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	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	all_effects	Allele	Gene	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	AF	AFR_AF	AMR_AF	ASN_AF	EAS_AF	EUR_AF	SAS_AF	AA_AF	EA_AF	CLIN_SIG	SOMATIC	PUBMED	MOTIF_NAME	MOTIF_POS	HIGH_INF_POS	MOTIF_SCORE_CHANGE	IMPACT	PICK	VARIANT_CLASS	TSL	HGVS_OFFSET	PHENO	MINIMISED	GENE_PHENO	FILTER	flanking_bps	vcf_id	vcf_qual	gnomAD_AF	gnomAD_AFR_AF	gnomAD_AMR_AF	gnomAD_ASJ_AF	gnomAD_EAS_AF	gnomAD_FIN_AF	gnomAD_NFE_AF	gnomAD_OTH_AF	gnomAD_SAS_AF	vcf_pos
NOC2L	0	.	GRCh37	chr1	888659	888659	+	Missense_Mutation	SNP	T	T	C	rs3748597	NA	L1	NORMAL	T	T	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.898A>G	p.Ile300Val	p.I300V	ENST00000327044	9/19	50	33	17	NA	NA	NA	NOC2L,missense_variant,p.Ile300Val,ENST00000327044,NM_015658.3;NOC2L,downstream_gene_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;NOC2L,downstream_gene_variant,,ENST00000469563,;	C	ENSG00000188976	ENST00000327044	Transcript	missense_variant	948/2790	898/2250	300/749	I/V	Atc/Gtc	rs3748597,COSV58989936	1	NA	-1	NOC2L	HGNC	24517	protein_coding	YES	CCDS3.1	ENSP00000317992	NOC2L_HUMAN		UPI000041820C	NM_015658.3	tolerated(1)	benign(0)	9/19		PANTHER:PTHR12687,PANTHER:PTHR12687:SF4,Superfamily:SSF48371	NA	0.907	0.9193	NA	0.9206	0.9533	0.9172	NA	NA		0,1		NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	ATC	rs3748597	2045.33	NA	NA	NA	NA	NA	NA	NA	NA	NA	888659
NOC2L	0	.	GRCh37	chr1	889238	889238	+	Missense_Mutation	SNP	G	G	A	rs3828049	NA	L1	NORMAL	G	G	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.812C>T	p.Ala271Val	p.A271V	ENST00000327044	8/19	6	3	3	NA	NA	NA	NOC2L,missense_variant,p.Ala271Val,ENST00000327044,NM_015658.3;NOC2L,downstream_gene_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;NOC2L,downstream_gene_variant,,ENST00000469563,;	A	ENSG00000188976	ENST00000327044	Transcript	missense_variant	862/2790	812/2250	271/749	A/V	gCg/gTg	rs3828049,COSV58986908	1	NA	-1	NOC2L	HGNC	24517	protein_coding	YES	CCDS3.1	ENSP00000317992	NOC2L_HUMAN		UPI000041820C	NM_015658.3	tolerated(0.06)	possibly_damaging(0.88)	8/19		PANTHER:PTHR12687,PANTHER:PTHR12687:SF4,Superfamily:SSF48371	NA	0.0197	0.0764	NA	0.0774	0.0467	0.0808	NA	NA		0,1		NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	CGC	rs3828049	63.1	NA	NA	NA	NA	NA	NA	NA	NA	NA	889238
C1orf170	0	.	GRCh37	chr1	916549	916549	+	Missense_Mutation	SNP	A	G	G	rs6660139	NA	L1	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.58T>C	p.Trp20Arg	p.W20R	ENST00000433179	2/5	8	1	7	NA	NA	NA	C1orf170,missense_variant,p.Trp20Arg,ENST00000433179,;C1orf170,5_prime_UTR_variant,,ENST00000341290,;C1orf170,upstream_gene_variant,,ENST00000479361,;	G	ENSG00000187642	ENST00000433179	Transcript	missense_variant	58/3064	58/2091	20/696	W/R	Tgg/Cgg	rs6660139	1	NA	-1	C1orf170	HGNC	28208	protein_coding	YES		ENSP00000414022	CA170_HUMAN		UPI0000418FB0		tolerated_low_confidence(0.09)	unknown(0)	2/5		PANTHER:PTHR21712,PANTHER:PTHR21712:SF30	NA	0.5998	0.781	NA	0.88	0.7584	0.8323	NA	NA				NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	CAT	rs6660139	900	NA	NA	NA	NA	NA	NA	NA	NA	NA	916549
TTLL10	0	.	GRCh37	chr1	1116189	1116189	+	Missense_Mutation	SNP	G	G	A	rs137938349	NA	L1	NORMAL	G	G	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.704G>A	p.Arg235Gln	p.R235Q	ENST00000379290	8/16	10	5	5	NA	NA	NA	TTLL10,missense_variant,p.Arg235Gln,ENST00000379290,;TTLL10,missense_variant,p.Arg235Gln,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Arg162Gln,ENST00000379288,NM_153254.2;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,non_coding_transcript_exon_variant,,ENST00000460998,;TTLL10,non_coding_transcript_exon_variant,,ENST00000514695,;TTLL10,upstream_gene_variant,,ENST00000486379,;	A	ENSG00000162571	ENST00000379290	Transcript	missense_variant	877/2283	704/2022	235/673	R/Q	cGg/cAg	rs137938349	1	NA	1	TTLL10	HGNC	26693	protein_coding	YES	CCDS44036.1	ENSP00000368592	TTL10_HUMAN		UPI0000205ADB		tolerated(0.28)	benign(0.087)	8/16		PROSITE_profiles:PS51221,PANTHER:PTHR12241,PANTHER:PTHR12241:SF72	NA	0.025	0.0115	NA	NA	0.001	NA	NA	NA				NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	CGG	rs137938349	56.66	NA	NA	NA	NA	NA	NA	NA	NA	NA	1116189
SDF4	0	.	GRCh37	chr1	1164031	1164031	+	Missense_Mutation	SNP	A	A	G	rs61744664	NA	L1	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.143T>C	p.Val48Ala	p.V48A	ENST00000360001	2/7	33	17	16	NA	NA	NA	SDF4,missense_variant,p.Val48Ala,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,missense_variant,p.Val48Ala,ENST00000360001,;SDF4,missense_variant,p.Val48Ala,ENST00000545427,;B3GALT6,upstream_gene_variant,,ENST00000379198,NM_080605.3;SDF4,upstream_gene_variant,,ENST00000403997,;SDF4,non_coding_transcript_exon_variant,,ENST00000459994,;SDF4,missense_variant,p.Val48Ala,ENST00000465727,;	G	ENSG00000078808	ENST00000360001	Transcript	missense_variant	406/1956	143/1089	48/362	V/A	gTa/gCa	rs61744664	1	NA	-1	SDF4	HGNC	24188	protein_coding	YES	CCDS30553.1	ENSP00000353094	CAB45_HUMAN		UPI0000127156		tolerated(1)	benign(0)	2/7		PANTHER:PTHR10827,PANTHER:PTHR10827:SF39	NA	0.1286	0.0173	NA	NA	NA	NA	NA	NA				NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	TAC	rs61744664	313.33	NA	NA	NA	NA	NA	NA	NA	NA	NA	1164031
NOC2L	0	.	GRCh37	chr1	888659	888659	+	Missense_Mutation	SNP	T	C	C	rs3748597	NA	L2	NORMAL	T	T	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.898A>G	p.Ile300Val	p.I300V	ENST00000327044	9/19	22	0	22	NA	NA	NA	NOC2L,missense_variant,p.Ile300Val,ENST00000327044,NM_015658.3;NOC2L,downstream_gene_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;NOC2L,downstream_gene_variant,,ENST00000469563,;	C	ENSG00000188976	ENST00000327044	Transcript	missense_variant	948/2790	898/2250	300/749	I/V	Atc/Gtc	rs3748597,COSV58989936	1	NA	-1	NOC2L	HGNC	24517	protein_coding	YES	CCDS3.1	ENSP00000317992	NOC2L_HUMAN		UPI000041820C	NM_015658.3	tolerated(1)	benign(0)	9/19		PANTHER:PTHR12687,PANTHER:PTHR12687:SF4,Superfamily:SSF48371	NA	0.907	0.9193	NA	0.9206	0.9533	0.9172	NA	NA		0,1		NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	ATC	rs3748597	2045.33	NA	NA	NA	NA	NA	NA	NA	NA	NA	888659
C1orf170	0	.	GRCh37	chr1	916549	916549	+	Missense_Mutation	SNP	A	A	G	rs6660139	NA	L2	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.58T>C	p.Trp20Arg	p.W20R	ENST00000433179	2/5	39	17	22	NA	NA	NA	C1orf170,missense_variant,p.Trp20Arg,ENST00000433179,;C1orf170,5_prime_UTR_variant,,ENST00000341290,;C1orf170,upstream_gene_variant,,ENST00000479361,;	G	ENSG00000187642	ENST00000433179	Transcript	missense_variant	58/3064	58/2091	20/696	W/R	Tgg/Cgg	rs6660139	1	NA	-1	C1orf170	HGNC	28208	protein_coding	YES		ENSP00000414022	CA170_HUMAN		UPI0000418FB0		tolerated_low_confidence(0.09)	unknown(0)	2/5		PANTHER:PTHR21712,PANTHER:PTHR21712:SF30	NA	0.5998	0.781	NA	0.88	0.7584	0.8323	NA	NA				NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	CAT	rs6660139	900	NA	NA	NA	NA	NA	NA	NA	NA	NA	916549
TTLL10	0	.	GRCh37	chr1	1116182	1116182	+	Missense_Mutation	SNP	C	C	T	rs58991788	NA	L2	NORMAL	C	C	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.697C>T	p.Arg233Trp	p.R233W	ENST00000379290	8/16	13	7	6	NA	NA	NA	TTLL10,missense_variant,p.Arg233Trp,ENST00000379290,;TTLL10,missense_variant,p.Arg233Trp,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Arg160Trp,ENST00000379288,NM_153254.2;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,non_coding_transcript_exon_variant,,ENST00000460998,;TTLL10,non_coding_transcript_exon_variant,,ENST00000514695,;TTLL10,upstream_gene_variant,,ENST00000486379,;	T	ENSG00000162571	ENST00000379290	Transcript	missense_variant	870/2283	697/2022	233/673	R/W	Cgg/Tgg	rs58991788,COSV64960752	1	NA	1	TTLL10	HGNC	26693	protein_coding	YES	CCDS44036.1	ENSP00000368592	TTL10_HUMAN		UPI0000205ADB		deleterious(0.01)	probably_damaging(0.996)	8/16		PROSITE_profiles:PS51221,PANTHER:PTHR12241,PANTHER:PTHR12241:SF72	NA	0.0129	NA	NA	NA	0.001	NA	NA	NA		0,1		NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	TCG	rs58991788	214.49	NA	NA	NA	NA	NA	NA	NA	NA	NA	1116182
NOC2L	0	.	GRCh37	chr1	888659	888659	+	Missense_Mutation	SNP	T	C	C	rs3748597	NA	L3	NORMAL	T	T	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.898A>G	p.Ile300Val	p.I300V	ENST00000327044	9/19	23	0	23	NA	NA	NA	NOC2L,missense_variant,p.Ile300Val,ENST00000327044,NM_015658.3;NOC2L,downstream_gene_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;NOC2L,downstream_gene_variant,,ENST00000469563,;	C	ENSG00000188976	ENST00000327044	Transcript	missense_variant	948/2790	898/2250	300/749	I/V	Atc/Gtc	rs3748597,COSV58989936	1	NA	-1	NOC2L	HGNC	24517	protein_coding	YES	CCDS3.1	ENSP00000317992	NOC2L_HUMAN		UPI000041820C	NM_015658.3	tolerated(1)	benign(0)	9/19		PANTHER:PTHR12687,PANTHER:PTHR12687:SF4,Superfamily:SSF48371	NA	0.907	0.9193	NA	0.9206	0.9533	0.9172	NA	NA		0,1		NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	ATC	rs3748597	2045.33	NA	NA	NA	NA	NA	NA	NA	NA	NA	888659
C1orf170	0	.	GRCh37	chr1	916549	916549	+	Missense_Mutation	SNP	A	G	G	rs6660139	NA	L3	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.58T>C	p.Trp20Arg	p.W20R	ENST00000433179	2/5	4	0	4	NA	NA	NA	C1orf170,missense_variant,p.Trp20Arg,ENST00000433179,;C1orf170,5_prime_UTR_variant,,ENST00000341290,;C1orf170,upstream_gene_variant,,ENST00000479361,;	G	ENSG00000187642	ENST00000433179	Transcript	missense_variant	58/3064	58/2091	20/696	W/R	Tgg/Cgg	rs6660139	1	NA	-1	C1orf170	HGNC	28208	protein_coding	YES		ENSP00000414022	CA170_HUMAN		UPI0000418FB0		tolerated_low_confidence(0.09)	unknown(0)	2/5		PANTHER:PTHR21712,PANTHER:PTHR21712:SF30	NA	0.5998	0.781	NA	0.88	0.7584	0.8323	NA	NA				NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	CAT	rs6660139	900	NA	NA	NA	NA	NA	NA	NA	NA	NA	916549
AGRN	0	.	GRCh37	chr1	982722	982722	+	Missense_Mutation	SNP	A	A	G	rs142416636	NA	L3	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.3404A>G	p.Gln1135Arg	p.Q1135R	ENST00000379370	20/36	7	3	4	NA	NA	NA	AGRN,missense_variant,p.Gln1135Arg,ENST00000379370,NM_198576.3;AGRN,upstream_gene_variant,,ENST00000419249,;AGRN,non_coding_transcript_exon_variant,,ENST00000466223,;AGRN,upstream_gene_variant,,ENST00000461111,;AGRN,upstream_gene_variant,,ENST00000478677,;AGRN,downstream_gene_variant,,ENST00000479707,;AGRN,upstream_gene_variant,,ENST00000492947,;	G	ENSG00000188157	ENST00000379370	Transcript	missense_variant	3454/7323	3404/6138	1135/2045	Q/R	cAg/cGg	rs142416636	1	NA	1	AGRN	HGNC	329	protein_coding	YES	CCDS30551.1	ENSP00000368678	AGRIN_HUMAN	Q5XG79_HUMAN	UPI00001D7C8B	NM_198576.3	deleterious(0.01)	possibly_damaging(0.76)	20/36		Pfam:PF01390,PROSITE_profiles:PS50024,PANTHER:PTHR10574,PANTHER:PTHR10574:SF227,SMART:SM00200,Low_complexity_(Seg):seg	NA	8e-4	0.0029	NA	0.0069	0.008	0.0532	NA	NA	benign		25741868	NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	1	NA	1	.	CAG	rs142416636	64	NA	NA	NA	NA	NA	NA	NA	NA	NA	982722
TTLL10	0	.	GRCh37	chr1	1116182	1116182	+	Missense_Mutation	SNP	C	C	T	rs58991788	NA	L3	NORMAL	C	C	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.697C>T	p.Arg233Trp	p.R233W	ENST00000379290	8/16	8	2	6	NA	NA	NA	TTLL10,missense_variant,p.Arg233Trp,ENST00000379290,;TTLL10,missense_variant,p.Arg233Trp,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Arg160Trp,ENST00000379288,NM_153254.2;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,non_coding_transcript_exon_variant,,ENST00000460998,;TTLL10,non_coding_transcript_exon_variant,,ENST00000514695,;TTLL10,upstream_gene_variant,,ENST00000486379,;	T	ENSG00000162571	ENST00000379290	Transcript	missense_variant	870/2283	697/2022	233/673	R/W	Cgg/Tgg	rs58991788,COSV64960752	1	NA	1	TTLL10	HGNC	26693	protein_coding	YES	CCDS44036.1	ENSP00000368592	TTL10_HUMAN		UPI0000205ADB		deleterious(0.01)	probably_damaging(0.996)	8/16		PROSITE_profiles:PS51221,PANTHER:PTHR12241,PANTHER:PTHR12241:SF72	NA	0.0129	NA	NA	NA	0.001	NA	NA	NA		0,1		NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	TCG	rs58991788	214.49	NA	NA	NA	NA	NA	NA	NA	NA	NA	1116182
NOC2L	0	.	GRCh37	chr1	888659	888659	+	Missense_Mutation	SNP	T	C	C	rs3748597	NA	L4	NORMAL	T	T	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.898A>G	p.Ile300Val	p.I300V	ENST00000327044	9/19	24	0	24	NA	NA	NA	NOC2L,missense_variant,p.Ile300Val,ENST00000327044,NM_015658.3;NOC2L,downstream_gene_variant,,ENST00000487214,;NOC2L,non_coding_transcript_exon_variant,,ENST00000477976,;NOC2L,downstream_gene_variant,,ENST00000469563,;	C	ENSG00000188976	ENST00000327044	Transcript	missense_variant	948/2790	898/2250	300/749	I/V	Atc/Gtc	rs3748597,COSV58989936	1	NA	-1	NOC2L	HGNC	24517	protein_coding	YES	CCDS3.1	ENSP00000317992	NOC2L_HUMAN		UPI000041820C	NM_015658.3	tolerated(1)	benign(0)	9/19		PANTHER:PTHR12687,PANTHER:PTHR12687:SF4,Superfamily:SSF48371	NA	0.907	0.9193	NA	0.9206	0.9533	0.9172	NA	NA		0,1	NA	NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	ATC	rs3748597	2045.33	NA	NA	NA	NA	NA	NA	NA	NA	NA	888659
C1orf170	0	.	GRCh37	chr1	916549	916549	+	Missense_Mutation	SNP	A	G	G	rs6660139	NA	L4	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.58T>C	p.Trp20Arg	p.W20R	ENST00000433179	2/5	13	0	13	NA	NA	NA	C1orf170,missense_variant,p.Trp20Arg,ENST00000433179,;C1orf170,5_prime_UTR_variant,,ENST00000341290,;C1orf170,upstream_gene_variant,,ENST00000479361,;	G	ENSG00000187642	ENST00000433179	Transcript	missense_variant	58/3064	58/2091	20/696	W/R	Tgg/Cgg	rs6660139	1	NA	-1	C1orf170	HGNC	28208	protein_coding	YES		ENSP00000414022	CA170_HUMAN		UPI0000418FB0		tolerated_low_confidence(0.09)	unknown(0)	2/5		PANTHER:PTHR21712,PANTHER:PTHR21712:SF30	NA	0.5998	0.781	NA	0.88	0.7584	0.8323	NA	NA			NA	NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	CAT	rs6660139	900	NA	NA	NA	NA	NA	NA	NA	NA	NA	916549
TTLL10	0	.	GRCh37	chr1	1116182	1116182	+	Missense_Mutation	SNP	C	T	T	rs58991788	NA	L4	NORMAL	C	C	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.697C>T	p.Arg233Trp	p.R233W	ENST00000379290	8/16	3	1	2	NA	NA	NA	TTLL10,missense_variant,p.Arg233Trp,ENST00000379290,;TTLL10,missense_variant,p.Arg233Trp,ENST00000379289,NM_001130045.1;TTLL10,missense_variant,p.Arg160Trp,ENST00000379288,NM_153254.2;TTLL10-AS1,upstream_gene_variant,,ENST00000379317,;TTLL10,non_coding_transcript_exon_variant,,ENST00000460998,;TTLL10,non_coding_transcript_exon_variant,,ENST00000514695,;TTLL10,upstream_gene_variant,,ENST00000486379,;	T	ENSG00000162571	ENST00000379290	Transcript	missense_variant	870/2283	697/2022	233/673	R/W	Cgg/Tgg	rs58991788,COSV64960752	1	NA	1	TTLL10	HGNC	26693	protein_coding	YES	CCDS44036.1	ENSP00000368592	TTL10_HUMAN		UPI0000205ADB		deleterious(0.01)	probably_damaging(0.996)	8/16		PROSITE_profiles:PS51221,PANTHER:PTHR12241,PANTHER:PTHR12241:SF72	NA	0.0129	NA	NA	NA	0.001	NA	NA	NA		0,1	NA	NA	NA	NA	NA	MODERATE	1	SNV	NA	NA	0,1	NA	NA	.	TCG	rs58991788	214.49	NA	NA	NA	NA	NA	NA	NA	NA	NA	1116182
SDF4	0	.	GRCh37	chr1	1163929	1163929	+	Missense_Mutation	SNP	A	A	G	novel	NA	L4	NORMAL	A	A	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.245T>C	p.Phe82Ser	p.F82S	ENST00000360001	2/7	15	11	4	NA	NA	NA	SDF4,missense_variant,p.Phe82Ser,ENST00000263741,NM_016176.3,NM_016547.2;SDF4,missense_variant,p.Phe82Ser,ENST00000360001,;SDF4,missense_variant,p.Phe82Ser,ENST00000545427,;SDF4,missense_variant,p.Phe17Ser,ENST00000403997,;B3GALT6,upstream_gene_variant,,ENST00000379198,NM_080605.3;SDF4,non_coding_transcript_exon_variant,,ENST00000459994,;SDF4,missense_variant,p.Phe82Ser,ENST00000465727,;,regulatory_region_variant,,ENSR00001771241,;	G	ENSG00000078808	ENST00000360001	Transcript	missense_variant	508/1956	245/1089	82/362	F/S	tTc/tCc		1	NA	-1	SDF4	HGNC	24188	protein_coding	YES	CCDS30553.1	ENSP00000353094	CAB45_HUMAN		UPI0000127156		deleterious(0)	possibly_damaging(0.711)	2/7		PANTHER:PTHR10827,PANTHER:PTHR10827:SF39	NA	NA	NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	.	GAA	.	35.33	NA	NA	NA	NA	NA	NA	NA	NA	NA	1163929
UBE2J2	0	.	GRCh37	chr1	1190781	1190781	+	Missense_Mutation	SNP	C	C	G	novel	NA	L4	NORMAL	C	C	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	NA	c.630G>C	p.Glu210Asp	p.E210D	ENST00000400930	8/8	30	23	7	NA	NA	NA	UBE2J2,missense_variant,p.Glu142Asp,ENST00000347370,NM_194458.1;UBE2J2,missense_variant,p.Glu194Asp,ENST00000349431,NM_058167.2;UBE2J2,missense_variant,p.Glu142Asp,ENST00000348298,;UBE2J2,missense_variant,p.Glu142Asp,ENST00000400929,NM_194457.1;UBE2J2,missense_variant,p.Glu194Asp,ENST00000435198,;UBE2J2,missense_variant,p.Glu194Asp,ENST00000360466,;UBE2J2,missense_variant,p.Glu210Asp,ENST00000400930,NM_194315.1;UBE2J2,missense_variant,p.Glu159Asp,ENST00000339385,;UBE2J2,downstream_gene_variant,,ENST00000422076,;UBE2J2,downstream_gene_variant,,ENST00000502382,;UBE2J2,downstream_gene_variant,,ENST00000509720,;RP5-902P8.12,upstream_gene_variant,,ENST00000565563,;UBE2J2,non_coding_transcript_exon_variant,,ENST00000467339,;UBE2J2,downstream_gene_variant,,ENST00000491779,;UBE2J2,3_prime_UTR_variant,,ENST00000450390,;UBE2J2,3_prime_UTR_variant,,ENST00000464036,;UBE2J2,3_prime_UTR_variant,,ENST00000473215,;UBE2J2,downstream_gene_variant,,ENST00000466752,;UBE2J2,downstream_gene_variant,,ENST00000471154,;UBE2J2,downstream_gene_variant,,ENST00000477894,;UBE2J2,downstream_gene_variant,,ENST00000503294,;	G	ENSG00000160087	ENST00000400930	Transcript	missense_variant	798/1021	630/828	210/275	E/D	gaG/gaC		1	NA	-1	UBE2J2	HGNC	19268	protein_coding	YES	CCDS15.1	ENSP00000383719	UB2J2_HUMAN	D6REN4_HUMAN,D6RD90_HUMAN,D6R9H0_HUMAN,B1AMF1_HUMAN,A6NGS0_HUMAN	UPI00001D69F8	NM_194315.1	tolerated(0.25)	benign(0)	8/8		PANTHER:PTHR24067:SF42,PANTHER:PTHR24067	NA	NA	NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	MODERATE	1	SNV	NA	NA		NA	NA	LowQual	TCT	.	16.44	NA	NA	NA	NA	NA	NA	NA	NA	NA	1190781