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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
RELN	5649	broad.mit.edu	37	7	103180786	103180786	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:103180786delT	ENST00000428762.1	-	44	6947	c.6788delA	c.(6787-6789)gagfs	p.E2263fs	RELN_ENST00000343529.5_Frame_Shift_Del_p.E2263fs|RELN_ENST00000424685.2_Frame_Shift_Del_p.E2263fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					GAAAAGGAACTCCTGAAGAAG	0.542000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001589	frameshift_variant			ENST00000428762.1	0	1	hg19	CCDS47680.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	0	37	411	0	94			0	0	0	94				0	0	0	0		1	1.000000	37	405	0	90	2	0	0	0	0	0	0		-3.017764	1	1	0	0		1	2	2	4	2.097417	0	0.550000	3.730000	0.709677	0.460000	3.300000e-01	0.620000	0.480000	0.475535	0.460000	0	3.900000e-01	0.550000
INA	9118	broad.mit.edu	37	10	105037160	105037160	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:105037160G>A	ENST00000369849.4	+	1	241	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha			13					GCCTCGGCCTGGCCTATCGCC	0.741000																								0							SO:0001819	synonymous_variant			ENST00000369849.4	1	1	hg19	CCDS7545.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	1	0	0	18	60	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.999989	17	58	0	16	2		0	0	0	0	16	2	-20.000000	1	1	0	0		1	2	2	4	2.139192	1	0.550000	3.730000	0.709677	0.990000	8.400000e-01	1.000000	1.000000	0.989482	0.990000	1	9.900000e-01	1.000000
ATRNL1	26033	broad.mit.edu	37	10	117226743	117226743	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:117226743G>A	ENST00000355044.3	+	23	3603	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Silent_p.T210T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1			95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)			TCAACATTACGTGGTCTGTCG	0.294000																								0							SO:0001819	synonymous_variant			ENST00000355044.3	1	1	hg19	CCDS7592.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	1	0	0	20	314	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	0.831260	19	307	1	78	15		0	0	0	0	80	2	-19.999080	1	1	0	0		1	2	2	4	2.139192	1	0.550000	3.730000	0.709677	0.340000	2.100000e-01	0.500000	0.330000	0.351850	0.340000	0	2.700000e-01	0.420000
PNLIPRP3	119548	broad.mit.edu	37	10	118203960	118203960	+	Missense_Mutation	SNP	A	A	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:118203960A>C	ENST00000369230.3	+	4	537	c.391A>C	c.(391-393)Atc>Ctc	p.I131L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3			50					ACGGGAATACATCCATGCTGT	0.318000																								0							SO:0001583	missense			ENST00000369230.3	0	1	hg19	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117608	0.37339	.	.	ENSG00000203837	ENST00000369230	D	0.90620	-2.7	5.28	-0.352	0.12598	Lipase, N-terminal (1);	0.753542	0.11427	N	0.565260	T	0.82070	0.4957	L	0.33668	1.02	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.69435	-0.5146	10	0.66056	D	0.02	.	2.765	0.05317	0.6175:0.1526:0.1158:0.114	.	131	Q17RR3	LIPR3_HUMAN	L	131	ENSP00000358232:I131L	ENSP00000358232:I131L	I	+	1	0	PNLIPRP3	118193950	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.284000	0.18864	-0.211000	0.10124	0.482000	0.46254	ATC		TCGA-YY-A8LH-01A-11D-A36O-08	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	0	0	0	10	534	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	0.996720	10	527	0	124	2		0	0	0	0	126	2	-8.530329	1	1	0	0		1	2	2	4	2.139192	1	0.550000	3.730000	0.709677	0.100000	4.000000e-02	0.190000	0.120000	0.113513	0.100000	0	7.000000e-02	0.150000
MKI67	4288	broad.mit.edu	37	10	129905212	129905212	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:129905212C>T	ENST00000368654.3	-	13	5267	c.4892G>A	c.(4891-4893)cGa>cAa	p.R1631Q	MKI67_ENST00000368653.3_Missense_Mutation_p.R1271Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67			159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)			CTTGAGCCGTCGCTTGGAGCT	0.502000																								0							SO:0001583	missense			ENST00000368654.3	0	1	hg19	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.711	0.912034	0.17907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03152	4.03;4.03	2.6	0.628	0.17681	.	0.461817	0.16195	N	0.225197	T	0.02230	0.0069	L	0.34521	1.04	0.09310	N	1	B;P;B	0.34562	0.053;0.457;0.275	B;B;B	0.22753	0.007;0.041;0.033	T	0.47355	-0.9124	10	0.25751	T	0.34	.	4.3863	0.11318	0.0:0.5705:0.1925:0.237	.	1630;1271;1631	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	1631;1271;1630	ENSP00000357643:R1631Q;ENSP00000357642:R1271Q	ENSP00000357642:R1271Q	R	-	2	0	MKI67	129795202	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.262000	0.32992	0.166000	0.19597	-0.244000	0.11960	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	0	0	17	1034	1	300	0	1.510390e-02	0	11	1	300	2		0	0	0	0	0	2	1	0.755046	17	1023	1	294	14		0	0	0	1	300	2	-2.430833	0	1	121412	2	43	1	2	2	4	2.139192	1	0.550000	3.730000	0.709677	0.080000	4.000000e-02	0.150000	0.080000	0.095613	0.080000	0	6.000000e-02	0.120000
RBP3	5949	broad.mit.edu	37	10	48388910	48388910	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:48388910G>A	ENST00000224600.4	-	1	2081	c.1968C>T	c.(1966-1968)gtC>gtT	p.V656V	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial			59				Vitamin A(DB00162)	TCTGCCCCACGACCTCTGGCC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000224600.4	1	1	hg19	CCDS7218.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	1	0	1	16	91	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999946	15	89	0	32	2		0	0	0	0	32	2	-20.000000	1	1	121162	1	26	1	2	2	4	2.135981	1	0.550000	3.730000	0.709677	0.850000	5.200000e-01	1.000000	1.000000	0.842551	0.850000	1	6.700000e-01	1.000000
C10orf53	282966	broad.mit.edu	37	10	50916592	50916592	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:50916592G>A	ENST00000374112.3	+	3	415	c.403G>A	c.(403-405)Gac>Aac	p.D135N	C10orf53_ENST00000535836.1_Missense_Mutation_p.D135N	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53			7		all_neural(218;0.107)			caatctttgtgacctgggttg	0.488000																								0							SO:0001583	missense			ENST00000374112.3	0	1	hg19	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594908	0.28445	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	P	0.41947	0.766	B	0.33521	0.165	T	0.10268	-1.0637	8	0.87932	D	0	.	6.7374	0.23417	0.0:0.0:1.0:0.0	.	135	B9ZVK6	.	N	135	.	ENSP00000363226:D135N	D	+	1	0	C10orf53	50586598	0.028000	0.19301	0.022000	0.16811	0.046000	0.14306	0.550000	0.23345	1.229000	0.43630	0.491000	0.48974	GAC		TCGA-YY-A8LH-01A-11D-A36O-08	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1	0	0	0	8	521	0	166		0	0	0	0	166	2		0	0	0	0	0	2	1	0.988876	8	514	0	166	2		0	0	0	0	166	2	-2.976057	1	1	0	0		1	2	2	4	2.135981	1	0.550000	3.730000	0.709677	0.080000	2.000000e-02	0.170000	0.080000	0.095784	0.080000	0	5.000000e-02	0.130000
PCDH15	65217	broad.mit.edu	37	10	55849770	55849770	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:55849770A>G	ENST00000320301.6	-	16	2365	c.1971T>C	c.(1969-1971)ccT>ccC	p.P657P	PCDH15_ENST00000395433.1_Silent_p.P635P|PCDH15_ENST00000373965.2_Silent_p.P664P|PCDH15_ENST00000395430.1_Silent_p.P657P|PCDH15_ENST00000373957.3_Silent_p.P635P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.P657P|PCDH15_ENST00000409834.1_Silent_p.P268P|PCDH15_ENST00000395438.1_Silent_p.P657P|PCDH15_ENST00000361849.3_Silent_p.P657P|PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395445.1_Silent_p.P664P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P620P|PCDH15_ENST00000373955.1_Silent_p.P657P|PCDH15_ENST00000414778.1_Silent_p.P662P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15			237		Melanoma(3;0.117)|Lung SC(717;0.238)			AAACTCTCTGAGGATCTCCAT	0.338000										HNSCC(58;0.16)														0							SO:0001819	synonymous_variant			ENST00000320301.6	1	1	hg19	CCDS7248.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	0	0	0	14	650	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	0.999731	14	641	0	134	2		0	0	0	0	135	2	-4.304782	1	1	0	0		1	2	2	4	2.135981	1	0.550000	3.730000	0.709677	0.110000	5.000000e-02	0.200000	0.120000	0.126801	0.110000	0	8.000000e-02	0.160000
ANKRD2	26287	broad.mit.edu	37	10	99338074	99338074	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr10:99338074C>A	ENST00000307518.5	+	3	615	c.348C>A	c.(346-348)atC>atA	p.I116I	ANKRD2_ENST00000455090.1_Silent_p.I89I|ANKRD2_ENST00000370655.1_Silent_p.I89I|ANKRD2_ENST00000298808.5_Silent_p.I116I			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)			7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)			AGAACCTCATCGAGCTGCGGA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000307518.5	1	1	hg19	CCDS7466.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	40	147	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	1.000000	39	145	0	48	2		0	0	0	0	50	2	-20.000000	1	1	0	0		1	2	2	4	2.139192	1	0.550000	3.730000	0.709677	0.990000	8.900000e-01	1.000000	1.000000	0.993634	0.990000	1	9.900000e-01	1.000000
MRVI1	10335	broad.mit.edu	37	11	10622527	10622527	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:10622527G>A	ENST00000436272.1	-	14	1952	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MRVI1_ENST00000534266.2_Missense_Mutation_p.A337V|MRVI1_ENST00000545852.1_Missense_Mutation_p.A337V|MRVI1_ENST00000531107.1_Missense_Mutation_p.A644V|MRVI1_ENST00000547195.1_Missense_Mutation_p.A561V|MRVI1_ENST00000423302.2_Missense_Mutation_p.A652V|MRVI1_ENST00000527509.2_Missense_Mutation_p.A561V|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.A446V|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Missense_Mutation_p.A337V|MRVI1_ENST00000552103.1_Missense_Mutation_p.A561V|MRVI1_ENST00000424001.1_Missense_Mutation_p.A337V|MRVI1_ENST00000421747.1_Missense_Mutation_p.A643V|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog			22					CATGAGCTCCGCATGGTCCTT	0.517000																								0							SO:0001583	missense			ENST00000436272.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.484238	0.96307	0.0	1.21E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.999;0.998	T	0.57075	-0.7873	10	0.72032	D	0.01	-10.4332	19.2679	0.93997	0.0:0.0:1.0:0.0	.	446;625;644;643	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	V	643;626;625;561;561;337;337;652;446;644;561	ENSP00000414598:A643V;ENSP00000412229:A625V;ENSP00000448278:A561V;ENSP00000446764:A561V;ENSP00000441971:A337V;ENSP00000401205:A337V;ENSP00000412130:A652V;ENSP00000437784:A446V;ENSP00000432436:A644V;ENSP00000432067:A561V	ENSP00000307885:A626V	A	-	2	0	MRVI1	10579103	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.557000	0.71058	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		0	0	0	8	633	0	202	0	2.166691e-04	0	2	0	202	2		0	0	0	0	0	2	1	0.988944	8	626	0	200	2		0	0	0	0	202	2	-2.353778	0	1	120882	9	46	1	2	3	5	2.070863	1	0.550000	3.730000	0.707079	0.080000	1.000000e-02	1.000000	0.080000	0.280792	0.080000	0	4.000000e-02	1.000000
RDX	5962	broad.mit.edu	37	11	110108333	110108333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:110108333G>A	ENST00000343115.4	-	11	1454	c.1135C>T	c.(1135-1137)Cga>Tga	p.R379*	RDX_ENST00000544551.1_Nonsense_Mutation_p.R243*|RDX_ENST00000405097.1_Nonsense_Mutation_p.R379*|RDX_ENST00000528498.1_Nonsense_Mutation_p.R379*|RDX_ENST00000530301.1_Intron|RDX_ENST00000528900.1_Nonsense_Mutation_p.R32*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin			18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			GCTCGTTTTCGTTCTTGATCC	0.423000													Esophageal Squamous(55;25 1062 11040 28755 44273)											0							SO:0001587	stop_gained			ENST00000343115.4	0	1	hg19	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	G	41	8.635797	0.98895	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	.	.	.	5.78	3.73	0.42828	.	0.148841	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	14.0536	0.64754	0.0:0.0:0.6747:0.3253	.	.	.	.	X	379;379;32;379;243;49	.	ENSP00000342830:R379X	R	-	1	2	RDX	109613543	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.822000	0.48073	2.730000	0.93505	0.650000	0.86243	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	1	0	0	51	576	0	177	0	1.379818e-01	0	8	0	177	2		0	0	0	0	0	2	1	1.000000	50	570	0	174	2		0	0	0	0	177	2	-12.955910	1	1	0	0		1	2	2	4	2.085219	0	0.550000	3.730000	0.708644	0.450000	3.400000e-01	0.590000	0.450000	0.464007	0.450000	0	3.900000e-01	0.530000
FAM160A2	84067	broad.mit.edu	37	11	6235766	6235766	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:6235766G>A	ENST00000449352.2	-	11	2695	c.2432C>T	c.(2431-2433)gCg>gTg	p.A811V	FAM160A2_ENST00000265978.4_Missense_Mutation_p.A825V|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2			42					CTGGGAAGCCGCAAAGTTCTC	0.532000																								0							SO:0001583	missense			ENST00000449352.2	0	1	hg19	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.717264	0.89205	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.11277	2.81;2.79	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	T	0.00731	-1.1590	10	0.30078	T	0.28	-9.5991	17.6957	0.88281	0.0:0.0:1.0:0.0	.	811;825	Q8N612;Q8N612-2	F16A2_HUMAN;.	V	811;825	ENSP00000416918:A811V;ENSP00000265978:A825V	ENSP00000265978:A825V	A	-	2	0	FAM160A2	6192342	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.136000	0.94489	2.391000	0.81399	0.457000	0.33378	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	0	0	0	6	542	1	151	0	3.738182e-02	1	331	1	151	10		0	0	0	0	0	2	0	0.006521	6	540	2	148	19		0	0	0	1	151	2	-1.717238	0	1	0	0		1	2	4	6	2.051836	1	0.550000	3.730000	0.701195	0.070000	1.000000e-02	1.000000	0.070000	0.292879	0.070000	0	3.000000e-02	1.000000
PPFIA1	8500	broad.mit.edu	37	11	70171012	70171012	+	Silent	SNP	C	C	A	rs144282210	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr11:70171012C>A	ENST00000253925.7	+	4	641	c.426C>A	c.(424-426)acC>acA	p.T142T	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.T142T|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	p.T142T(1)		65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		TTAGGATGACCGTGGTGAAGA	0.473000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000253925.7	0	1	hg19	CCDS31627.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	0	0	0	9	765	0	200	0	7.544369e-03	1	9	0	200	2		0	0	0	0	0	2	1	0.993928	8	757	0	198	2		0	0	0	0	200	2	-1.744953	0	1	0	0		1	2	2	4	2.108094	1	0.550000	3.730000	0.709677	0.060000	1.000000e-02	0.130000	0.080000	0.072539	0.060000	0	3.000000e-02	0.100000
KSR2	283455	broad.mit.edu	37	12	118405988	118405988	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:118405988C>A	ENST00000339824.5	-	1	800	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	KSR2_ENST00000425217.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2			67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TGGACCAGTTCGCACTGCTGT	0.507000																								0							SO:0001587	stop_gained			ENST00000339824.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	46	12.515743	0.99674	.	.	ENSG00000171435	ENST00000339824	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.2228	0.73327	0.0:1.0:0.0:0.0	.	.	.	.	X	25	.	ENSP00000339952:E25X	E	-	1	0	KSR2	116890371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.802000	0.75175	2.158000	0.67659	0.491000	0.48974	GAA		TCGA-YY-A8LH-01A-11D-A36O-08	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	0	0	0	10	633	0	152	0	0	0	1	0	152	2		0	0	0	0	0	2	1	0.996409	10	614	0	151	2		0	0	0	0	152	2	-2.273934	0	1	0	0		1	2	2	4	2.022142	0	0.550000	3.730000	0.698997	0.080000	3.000000e-02	1.000000	0.080000	0.166381	0.080000	0	5.000000e-02	0.140000
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D			152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			GGCGCCATCCGCACTGGAGAG	0.592000																								0							SO:0001583	missense			ENST00000422113.2	1	1	hg19	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611470	0.14066	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.15	-9.46	0.00597	.	1.098670	0.06965	N	0.817048	T	0.05547	0.0146	N	0.05230	-0.09	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44251	-0.9340	9	.	.	.	-7.6336	13.872	0.63624	0.2209:0.0943:0.6848:0.0	.	373	Q14C87	T132D_HUMAN	V	373	ENSP00000408581:A373V	.	A	-	2	0	TMEM132D	128388313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.065000	0.11617	-2.151000	0.00795	-0.889000	0.02933	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	0	0	0	12	372	1	92	0	0	0	1	1	92	2		0	0	0	0	0	2	0	0.330087	12	366	1	91	15		0	0	0	1	92	2	-2.788778	1	1	0	0		1	2	2	4	2.022142	0	0.550000	3.730000	0.698997	0.170000	8.000000e-02	1.000000	0.160000	0.248988	0.170000	0	1.200000e-01	0.260000
FZD10	11211	broad.mit.edu	37	12	130648711	130648711	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:130648711C>T	ENST00000229030.4	+	1	1708	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	FZD10_ENST00000539839.1_Missense_Mutation_p.R376W|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10			35	all_neural(191;0.101)|Medulloblastoma(191;0.163)				ACCTGGTCATCGGCACGTCCT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000229030.4	1	1	hg19	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	8.505	0.865101	0.17250	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	-2.84	0.05751	.	.	.	.	.	T	0.68888	0.3050	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72903	-0.4151	5	0.87932	D	0	.	12.273	0.54716	0.0:0.2908:0.5973:0.1119	.	.	.	.	W	376	.	ENSP00000438460:R376W	R	+	1	2	FZD10	129214664	0.038000	0.19896	0.092000	0.20876	0.725000	0.41563	-0.798000	0.04565	-0.407000	0.07576	-0.305000	0.09177	CGG		TCGA-YY-A8LH-01A-11D-A36O-08	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	64	214	1	73		0	0	0	1	73	2		0	0	0	0	0	2	1	1.000000	64	210	1	73	14		0	0	0	1	73	2	-20.000000	1	1	0	0		1	2	2	4	2.022142	0	0.550000	3.730000	0.698997	0.990000	9.900000e-01	1.000000	1.000000	0.998965	0.990000	1	9.900000e-01	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-YY-A8LH-01A-11D-A36O-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	97	237	0	95	1	9.980131e-01	16	10	0	95	2	1	1	72	221	0	353	2	1	1.000000	96	235	0	93	2	1	1	3123	4899	0	95	2	-20.000000	1	1	0	0		1	2	2	4	2.022142	0	0.550000	3.730000	0.698997	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
LARP4	113251	broad.mit.edu	37	12	50847262	50847262	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:50847262A>G	ENST00000398473.2	+	9	936	c.824A>G	c.(823-825)aAt>aGt	p.N275S	LARP4_ENST00000429001.3_Missense_Mutation_p.N281S|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000293618.8_Missense_Mutation_p.N275S|LARP4_ENST00000518561.1_Missense_Mutation_p.N205S|LARP4_ENST00000522085.1_Missense_Mutation_p.N275S|LARP4_ENST00000518444.1_Missense_Mutation_p.N274S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4			23					AAAGCCATCAATACATTTTTT	0.308000																								0							SO:0001583	missense			ENST00000398473.2	1	1	hg19	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	A	19.98	3.926632	0.73327	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.57595	1.24;0.94;0.92;0.39;0.89;0.5	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P	0.69078	0.997;0.957;0.996;0.995;0.553	D;D;D;D;P	0.77557	0.985;0.914;0.99;0.956;0.627	T	0.72899	-0.4152	10	0.49607	T	0.09	.	13.3994	0.60874	1.0:0.0:0.0:0.0	.	176;274;275;275;281	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	S	275;281;275;275;275;274;205;176	ENSP00000293618:N275S;ENSP00000415464:N281S;ENSP00000381490:N275S;ENSP00000429781:N275S;ENSP00000429077:N274S;ENSP00000430851:N205S	ENSP00000293618:N275S	N	+	2	0	LARP4	49133529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.707000	0.91367	1.724000	0.51502	0.260000	0.18958	AAT		TCGA-YY-A8LH-01A-11D-A36O-08	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	1	0	1	93	214	0	95	1	4.797068e-01	2	3	0	95	2		0	0	0	0	0	2	1	1.000000	93	211	0	95	2		0	0	0	0	95	2	-20.000000	1	1	0	0		1	2	2	4	2.022142	0	0.550000	3.730000	0.698997	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
RNF41	10193	broad.mit.edu	37	12	56600246	56600246	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:56600246G>A	ENST00000345093.4	-	7	1308	c.939C>T	c.(937-939)ggC>ggT	p.G313G	RNF41_ENST00000394013.2_Silent_p.G242G|RNF41_ENST00000552656.1_Silent_p.G313G	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase			11					TCTCTTCCACGCCATGCGCAA	0.522000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000345093.4	1	1	hg19	CCDS8909.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1	0	0	0	53	692	0	226	1	9.525136e-01	5	62	0	226	2		0	0	0	0	0	2	1	1.000000	52	686	0	222	2		0	0	0	0	226	2	-10.535360	1	1	121412	4	42	1	2	2	4	2.022142	0	0.550000	3.730000	0.698997	0.390000	2.800000e-01	1.000000	0.380000	0.441890	0.390000	0	3.300000e-01	0.470000
ACRBP	84519	broad.mit.edu	37	12	6753307	6753307	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr12:6753307C>T	ENST00000229243.2	-	5	1033	c.940G>A	c.(940-942)Ggc>Agc	p.G314S	ACRBP_ENST00000414226.2_Missense_Mutation_p.G281S|ACRBP_ENST00000536350.1_Missense_Mutation_p.G314S|ACRBP_ENST00000542357.1_5'Flank	NM_032489.2	NP_115878.2			acrosin binding protein			17					CTATACCTGCCAGGGTTTTGG	0.463000																								0							SO:0001583	missense			ENST00000229243.2	0	1	hg19	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612970	0.46631	.	.	ENSG00000111644	ENST00000229243;ENST00000414226;ENST00000536350	T;T	0.44881	0.92;0.91	4.25	2.41	0.29592	.	0.596770	0.15767	N	0.245645	T	0.29914	0.0748	L	0.50919	1.6	0.21325	N	0.999725	P;P	0.37525	0.598;0.598	B;B	0.31614	0.133;0.133	T	0.14504	-1.0470	10	0.41790	T	0.15	.	5.855	0.18714	0.0:0.767:0.0:0.233	.	281;314	E7EP66;Q8NEB7	.;ACRBP_HUMAN	S	314;281;314	ENSP00000229243:G314S;ENSP00000402725:G281S	ENSP00000229243:G314S	G	-	1	0	ACRBP	6623568	0.505000	0.26131	0.620000	0.29132	0.535000	0.34838	0.691000	0.25467	1.135000	0.42183	0.561000	0.74099	GGC		TCGA-YY-A8LH-01A-11D-A36O-08	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	0	0	0	7	364	0	103	0	2.987832e-03	0	4	0	103	2		0	0	0	0	0	2	1	0.980661	7	363	0	102	2		0	0	0	0	103	2	-6.898041	1	1	0	0		1	2	2	4	2.040923	0	0.550000	3.730000	0.701195	0.110000	4.000000e-02	1.000000	0.110000	0.174193	0.110000	0	7.000000e-02	0.170000
COL4A1	1282	broad.mit.edu	37	13	110857736	110857736	+	Silent	SNP	G	G	A	rs138809869		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:110857736G>A	ENST00000375820.4	-	17	1042	c.921C>T	c.(919-921)ccC>ccT	p.P307P	COL4A1_ENST00000543140.1_Silent_p.P307P	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1			105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		CTGGGTACCCGGGTTCACCAG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000375820.4	1	1	hg19	CCDS9511.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	1	0	1	96	318	0	119	1	9.999999e-01	8	71	0	119	2		0	0	0	0	0	2	1	1.000000	96	311	0	117	2		0	0	0	0	119	2	-3.752635	1	1	121412	2	36	1	2	2	4	2.108966	1	0.550000	3.730000	0.709677	0.990000	9.900000e-01	1.000000	1.000000	0.999923	0.990000	1	9.900000e-01	1.000000
FNDC3A	22862	broad.mit.edu	37	13	49775956	49775956	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:49775956G>C	ENST00000492622.2	+	24	3313	c.3008G>C	c.(3007-3009)gGa>gCa	p.G1003A	FNDC3A_ENST00000398316.3_Missense_Mutation_p.G947A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.G1003A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A			41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		CTATACAGAGGACCATGTCAT	0.328000																								0							SO:0001583	missense			ENST00000492622.2	0	1	hg19	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833531	0.91036	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56611	0.45;0.45;0.45	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.78723	0.4328	M	0.90082	3.085	0.80722	D	1	D;P	0.89917	1.0;0.936	D;P	0.91635	0.999;0.908	T	0.76822	-0.2817	10	0.33141	T	0.24	-24.3933	19.848	0.96722	0.0:0.0:1.0:0.0	.	947;1003	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	A	1003;939;1003;947	ENSP00000417257:G1003A;ENSP00000441831:G1003A;ENSP00000381362:G947A	ENSP00000338579:G939A	G	+	2	0	FNDC3A	48673957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.937000	0.99478	0.650000	0.86243	GGA		TCGA-YY-A8LH-01A-11D-A36O-08	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	0	0	0	6	442	0	102	0	2.022002e-01	0	53	0	102	2		0	0	0	0	0	2	1	0.964476	6	439	0	102	2		0	0	0	0	102	2	-4.870415	1	1	0	0		1	2	2	4	2.108966	1	0.550000	3.730000	0.709677	0.070000	1.000000e-02	0.160000	0.080000	0.087277	0.070000	0	4.000000e-02	0.120000
CCDC70	83446	broad.mit.edu	37	13	52439534	52439534	+	Missense_Mutation	SNP	G	G	T	rs141731440		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52439534G>T	ENST00000242819.4	+	2	316	c.20G>T	c.(19-21)cGg>cTg	p.R7L		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70			15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)			CCGCCATTCCGGCTGATAAGG	0.577000																								0							SO:0001583	missense			ENST00000242819.4	0	1	hg19	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	G	3.641	-0.073442	0.07184	.	.	ENSG00000123171	ENST00000242819	T	0.35789	1.29	4.67	1.94	0.25998	.	1.136360	0.06681	N	0.767977	T	0.25827	0.0629	N	0.24115	0.695	0.09310	N	1	B	0.23185	0.081	B	0.23275	0.045	T	0.29488	-1.0010	10	0.46703	T	0.11	-2.2162	6.8951	0.24251	0.2994:0.0:0.7006:0.0	.	7	Q6NSX1	CCD70_HUMAN	L	7	ENSP00000242819:R7L	ENSP00000242819:R7L	R	+	2	0	CCDC70	51337535	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.745000	0.26259	0.143000	0.18926	-0.672000	0.03802	CGG		TCGA-YY-A8LH-01A-11D-A36O-08	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	0	0	0	6	244	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.962808	6	238	0	52	2		0	0	0	0	54	2	-3.190722	1	1	0	0		1	2	2	4	2.108966	1	0.550000	3.730000	0.709677	0.140000	5.000000e-02	0.280000	0.130000	0.156340	0.140000	0	9.000000e-02	0.210000
ATP7B	540	broad.mit.edu	37	13	52585461	52585461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr13:52585461C>A	ENST00000242839.4	-	1	169	c.13G>T	c.(13-15)Gag>Tag	p.E5*	ALG11_ENST00000521508.1_5'Flank|ATP7B_ENST00000448424.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.E5*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.E5*|ALG11_ENST00000523764.1_5'Flank|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.E5*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.E5*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide			55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATCTGTCTCTCCTGCTCAGGC	0.592000									Wilson disease															0							SO:0001587	stop_gained	Familial Cancer Database		ENST00000242839.4	0	1	hg19	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225575	0.79576	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097	.	.	.	3.89	1.0	0.19881	.	0.976046	0.08296	U	0.967727	.	.	.	.	.	.	0.19945	N	0.999943	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.074	2.4796	0.04584	0.1932:0.5103:0.1876:0.1088	.	.	.	.	X	5	.	ENSP00000242839:E5X	E	-	1	0	ATP7B	51483462	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.524000	0.22940	0.051000	0.15978	-0.378000	0.06908	GAG		TCGA-YY-A8LH-01A-11D-A36O-08	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	1	0	0	64	239	0	82	0	2.888312e-01	0	5	0	82	2		0	0	0	0	0	2	1	1.000000	63	235	0	80	2		0	0	0	0	82	2	-20.000000	1	1	0	0		1	2	2	4	2.108966	1	0.550000	3.730000	0.709677	0.990000	9.400000e-01	1.000000	1.000000	0.996829	0.990000	1	9.900000e-01	1.000000
MDGA2	161357	broad.mit.edu	37	14	47426671	47426671	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:47426671G>A	ENST00000399232.2	-	9	2152	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y	MDGA2_ENST00000357362.3_Silent_p.Y367Y|MDGA2_ENST00000426342.1_Silent_p.Y367Y|MDGA2_ENST00000439988.3_Silent_p.Y665Y|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2			76					TCTTCACAGCGTACTCTGTGT	0.443000																								0							SO:0001819	synonymous_variant			ENST00000399232.2	1	1	hg19																																																																																					TCGA-YY-A8LH-01A-11D-A36O-08	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	0	0	0	13	376	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.999520	12	373	0	77	2		0	0	0	0	79	2	-3.687590	1	1	120838	10	42	1	2	2	4	2.105174	1	0.550000	3.730000	0.709677	0.190000	9.000000e-02	0.310000	0.200000	0.201607	0.190000	0	1.400000e-01	0.250000
RPS6KA5	9252	broad.mit.edu	37	14	91372565	91372565	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:91372565C>T	ENST00000261991.3	-	8	1058	c.885G>A	c.(883-885)atG>atA	p.M295I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M216I|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M295I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5			24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)			TGGGATCTTTCATCAAAAGAC	0.383000																								0							SO:0001583	missense			ENST00000261991.3	0	1	hg19	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031697	0.35797	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.52983	0.64;0.64;0.64	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239079	0.49916	D	0.000136	T	0.24812	0.0602	N	0.03999	-0.3	0.41859	D	0.990216	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09292	-1.0681	10	0.35671	T	0.21	.	9.9904	0.41868	0.0:0.8486:0.0:0.1514	.	295;295	O75582-2;O75582	.;KS6A5_HUMAN	I	295;216;295	ENSP00000261991:M295I;ENSP00000442803:M216I;ENSP00000402787:M295I	ENSP00000261991:M295I	M	-	3	0	RPS6KA5	90442318	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.240000	0.32731	2.640000	0.89533	0.585000	0.79938	ATG		TCGA-YY-A8LH-01A-11D-A36O-08	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	0	0	0	6	409	0	105	0	0	0	1	0	105	2		0	0	0	0	0	2	1	0.963634	6	403	0	104	2		0	0	0	0	105	2	-3.031096	1	1	0	0		1	2	2	4	2.105174	1	0.550000	3.730000	0.709677	0.080000	1.000000e-02	0.170000	0.080000	0.094387	0.080000	0	5.000000e-02	0.130000
VRK1	7443	broad.mit.edu	37	14	97319216	97319216	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr14:97319216A>G	ENST00000216639.3	+	6	572	c.423A>G	c.(421-423)atA>atG	p.I141M		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1			12		Melanoma(154;0.155)			TTCAGAAAATATATGAAGCAA	0.328000																								0							SO:0001583	missense			ENST00000216639.3	1	1	hg19	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165260	0.38217	.	.	ENSG00000100749	ENST00000216639	T	0.21191	2.02	5.76	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.418609	0.30446	N	0.009607	T	0.18509	0.0444	M	0.65498	2.005	0.41806	D	0.989943	P	0.44734	0.842	B	0.39876	0.312	T	0.07462	-1.0771	10	0.72032	D	0.01	-21.5458	1.8397	0.03147	0.4436:0.3034:0.106:0.1471	.	141	Q99986	VRK1_HUMAN	M	141	ENSP00000216639:I141M	ENSP00000216639:I141M	I	+	3	3	VRK1	96388969	0.957000	0.32711	1.000000	0.80357	0.997000	0.91878	0.138000	0.16016	0.978000	0.38470	0.482000	0.46254	ATA		TCGA-YY-A8LH-01A-11D-A36O-08	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	1	0	0	24	316	0	57	1	4.795262e-01	3	19	0	57	2		0	0	0	0	0	2	1	1.000000	24	313	0	55	2		0	0	0	0	57	2	-20.000000	1	1	0	0		1	2	2	4	2.105174	1	0.550000	3.730000	0.709677	0.400000	2.600000e-01	0.570000	0.400000	0.411529	0.400000	0	3.200000e-01	0.490000
NIPA1	123606	broad.mit.edu	37	15	23049053	23049053	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:23049053C>T	ENST00000337435.4	-	5	790	c.766G>A	c.(766-768)Gac>Aac	p.D256N	NIPA1_ENST00000437912.2_Missense_Mutation_p.D181N|NIPA1_ENST00000538684.1_Missense_Mutation_p.D86N|NIPA1_ENST00000561183.1_Missense_Mutation_p.D181N	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1			15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)			ACCGAGGAGTCGAAGCACTCC	0.612000																								0							SO:0001583	missense			ENST00000337435.4	1	1	hg19	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929927	0.18131	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.87887	-2.31;-2.31;-2.31	5.46	5.46	0.80206	.	0.090329	0.85682	D	0.000000	T	0.78394	0.4276	N	0.04880	-0.145	0.47737	D	0.999502	D	0.67145	0.996	P	0.49561	0.615	T	0.76677	-0.2871	10	0.02654	T	1	-31.8615	19.2935	0.94112	0.0:1.0:0.0:0.0	.	256	Q7RTP0	NIPA1_HUMAN	N	256;181;86	ENSP00000337452:D256N;ENSP00000393962:D181N;ENSP00000440957:D86N	ENSP00000337452:D256N	D	-	1	0	NIPA1	20600494	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.979000	0.56888	2.572000	0.86782	0.591000	0.81541	GAC		TCGA-YY-A8LH-01A-11D-A36O-08	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	1	0	0	8	164	0	54	1	3.115840e-01	4	18	0	54	2		0	0	0	0	0	2	1	0.989394	8	162	0	54	2		0	0	0	0	54	2	-10.684450	1	1	0	0		1	2	2	4	2.074351	0	0.550000	3.730000	0.707602	0.270000	1.200000e-01	0.530000	0.260000	0.295742	0.270000	0	1.900000e-01	0.390000
MYO9A	4649	broad.mit.edu	37	15	72300289	72300289	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:72300289A>G	ENST00000356056.5	-	8	1730	c.1258T>C	c.(1258-1260)Ttc>Ctc	p.F420L	MYO9A_ENST00000444904.1_Missense_Mutation_p.F401L|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000424560.1_Missense_Mutation_p.F420L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F420L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F15L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					AGAAGAGAGAAAATCCTGGGA	0.343000																								0							SO:0001583	missense			ENST00000356056.5	0	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657601	0.88154	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.87256	-2.23;-2.23;-2.23	5.28	5.28	0.74379	Myosin head, motor domain (2);	.	.	.	.	D	0.89966	0.6868	L	0.59436	1.845	0.80722	D	1	D;P;P;P	0.69078	0.997;0.474;0.794;0.859	P;P;P;P	0.59643	0.861;0.523;0.523;0.781	D	0.90607	0.4549	9	0.72032	D	0.01	.	11.2077	0.48780	0.8465:0.1535:0.0:0.0	.	401;420;401;420	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	L	420;420;401;401;420	ENSP00000348349:F420L;ENSP00000399162:F420L;ENSP00000398250:F401L	ENSP00000261864:F401L	F	-	1	0	MYO9A	70087343	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.834000	0.75339	2.107000	0.64212	0.460000	0.39030	TTC		TCGA-YY-A8LH-01A-11D-A36O-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	0	5	300	0	68	0	4.441812e-04	0	2	0	68	2		0	0	0	0	0	2	1	0.936960	5	298	0	67	2		0	0	0	0	68	2	-6.393507	1	1	0	0		1	2	2	4	2.138324	1	0.550000	3.730000	0.709677	0.090000	2.000000e-02	0.210000	0.080000	0.109849	0.090000	0	5.000000e-02	0.150000
BLM	641	broad.mit.edu	37	15	91303899	91303899	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr15:91303899T>C	ENST00000355112.3	+	7	1414	c.1296T>C	c.(1294-1296)ccT>ccC	p.P432P	BLM_ENST00000560509.1_Silent_p.P432P	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like			51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)		GATACAGGCCTGATTCACTTG	0.418000			Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000355112.3	0	1	hg19	CCDS10363.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0	0	0	7	856	0	213		0	0	0	0	213	2		0	0	0	0	0	2	1	0.980056	7	849	0	210	2		0	0	0	0	213	2	-2.454305	0	1	0	0		1	2	2	4	2.138324	1	0.550000	3.730000	0.709677	0.040000	0	0.100000	0.040000	0.049176	0.040000	0	2.000000e-02	0.070000
APRT	353	broad.mit.edu	37	16	88877975	88877975	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr16:88877975C>T	ENST00000378364.3	-	2	214	c.170G>A	c.(169-171)cGc>cAc	p.R57H	APRT_ENST00000426324.2_Missense_Mutation_p.R57H|APRT_ENST00000563655.1_Missense_Mutation_p.R57H	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase			3				Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTAGTCGATGCGGCCCCCGTG	0.716000																								0							SO:0001583	missense			ENST00000378364.3	0	1	hg19	CCDS32511.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610499	0.46527	.	.	ENSG00000198931	ENST00000378364;ENST00000426324	D;D	0.99369	-3.3;-5.78	4.63	-0.359	0.12571	Phosphoribosyltransferase (1);	0.950123	0.08812	N	0.890115	D	0.95510	0.8541	N	0.03891	-0.335	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	D	0.90882	0.4754	10	0.72032	D	0.01	-3.3317	9.307	0.37881	0.0:0.5341:0.0:0.4659	.	57;57	G5E9J2;P07741	.;APT_HUMAN	H	57	ENSP00000367615:R57H;ENSP00000397007:R57H	ENSP00000367615:R57H	R	-	2	0	APRT	87405476	0.001000	0.12720	0.026000	0.17262	0.926000	0.56050	0.200000	0.17257	-0.387000	0.07809	0.313000	0.20887	CGC		TCGA-YY-A8LH-01A-11D-A36O-08	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	0	0	0	4	51	0	17	0	9.999972e-01	1	945	0	17	2		0	0	0	0	0	2	1	0.884115	4	49	0	17	2		0	0	0	0	17	2	-8.347408	1	1	0	0		1	2	2	4	2.139844	1	0.550000	3.730000	0.709677	0.450000	1.500000e-01	0.920000	1.000000	0.488478	0.450000	0	2.800000e-01	0.690000
MYH4	4622	broad.mit.edu	37	17	10350494	10350494	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:10350494C>T	ENST00000255381.2	-	35	5115	c.5005G>A	c.(5005-5007)Gat>Aat	p.D1669N	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	p.D1669N(1)		149					TTAAGGTCATCTTGGCCTCTG	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000255381.2	1	1	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200015	0.94997	.	.	ENSG00000141048	ENST00000255381	T	0.79845	-1.31	5.29	5.29	0.74685	Myosin tail (1);	0.189171	0.25052	U	0.033501	D	0.86226	0.5882	M	0.85197	2.74	0.52099	D	0.999943	P	0.37781	0.608	B	0.42462	0.388	D	0.88012	0.2763	10	0.72032	D	0.01	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1669	Q9Y623	MYH4_HUMAN	N	1669	ENSP00000255381:D1669N	ENSP00000255381:D1669N	D	-	1	0	MYH4	10291219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.763000	0.85283	2.646000	0.89796	0.563000	0.77884	GAT		TCGA-YY-A8LH-01A-11D-A36O-08	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1	21	167	0	61	0	1.905298e-01	0	7	0	61	2		0	0	0	0	0	2	1	0.999998	21	167	0	60	2		0	0	0	0	61	2	-20.000000	1	1	0	0		1	0	2	2	1.436748	1	0.550000	3.730000	0.550000	0.400000	2.600000e-01	0.580000	0.400000	0.419218	0.400000	0	3.300000e-01	0.500000
MYO1D	4642	broad.mit.edu	37	17	31094737	31094737	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:31094737C>G	ENST00000318217.5	-	7	1052	c.748G>C	c.(748-750)Gtt>Ctt	p.V250L	MYO1D_ENST00000583621.1_Missense_Mutation_p.V250L|MYO1D_ENST00000394649.4_Missense_Mutation_p.V162L|MYO1D_ENST00000579584.1_Missense_Mutation_p.V250L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID			39			BRCA - Breast invasive adenocarcinoma(9;0.0362)		GCATCAGCAACAACTCTGAAT	0.388000																								0							SO:0001583	missense			ENST00000318217.5	0	1	hg19	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	C	33	5.288156	0.95517	.	.	ENSG00000176658	ENST00000318217	D	0.86627	-2.15	6.0	6.0	0.97389	Myosin head, motor domain (2);	0.000000	0.35646	U	0.003065	D	0.89329	0.6684	L	0.45698	1.435	0.58432	D	0.999999	P;P	0.51933	0.949;0.913	P;P	0.53760	0.734;0.649	D	0.89435	0.3719	10	0.62326	D	0.03	.	17.9887	0.89162	0.0:1.0:0.0:0.0	.	161;250	Q7Z3N6;O94832	.;MYO1D_HUMAN	L	250	ENSP00000324527:V250L	ENSP00000324527:V250L	V	-	1	0	MYO1D	28118850	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	7.487000	0.81328	2.848000	0.98002	0.655000	0.94253	GTT		TCGA-YY-A8LH-01A-11D-A36O-08	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1	0	0	0	5	328	0	86	0	2.711816e-01	0	57	0	86	2		0	0	0	0	0	2	1	0.934451	5	321	0	85	2		0	0	0	0	86	2	-5.827601	1	1	0	0		1	2	2	4	2.137762	1	0.550000	3.730000	0.709677	0.090000	1.000000e-02	0.190000	0.080000	0.100544	0.090000	0	5.000000e-02	0.140000
CNTNAP1	8506	broad.mit.edu	37	17	40839935	40839935	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:40839935C>A	ENST00000264638.4	+	8	1459	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1			49		Breast(137;0.000143)			AGCTGACGCTCAGCGAAGGGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000264638.4	0	1	hg19	CCDS11436.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	0	0	0	11	395	0	105	0	1.751589e-02	0	7	0	105	2		0	0	0	0	0	2	1	0.998194	11	387	0	104	2		0	0	0	0	105	2	-2.948390	1	1	0	0		1	3	4	7	2.171898	1	0.550000	3.730000	0.719626	0.180000	8.000000e-02	1.000000	0.170000	0.369384	0.180000	0	1.200000e-01	1.000000
RNF43	54894	broad.mit.edu	37	17	56434978	56434978	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56434978G>A	ENST00000584437.1	-	8	4114	c.2159C>T	c.(2158-2160)tCa>tTa	p.S720L	RNF43_ENST00000407977.2_Missense_Mutation_p.S720L|RNF43_ENST00000583753.1_Missense_Mutation_p.S679L|RNF43_ENST00000500597.2_Missense_Mutation_p.S679L|RNF43_ENST00000581868.1_Missense_Mutation_p.S593L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S720L|RNF43_ENST00000577625.1_Missense_Mutation_p.S593L			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				CTGTGAATTTGAGTAACAGGG	0.592000																								0							SO:0001583	missense			ENST00000584437.1	1	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720039	0.48728	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08807	3.19;3.05	5.71	5.71	0.89125	.	0.652107	0.13771	N	0.363914	T	0.10337	0.0253	N	0.19112	0.55	0.25753	N	0.985036	B;P;B	0.41131	0.13;0.739;0.079	B;P;B	0.45232	0.149;0.474;0.071	T	0.20940	-1.0260	10	0.66056	D	0.02	-8.0908	15.33	0.74200	0.0:0.0:1.0:0.0	.	679;720;720	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	720;679	ENSP00000385328:S720L;ENSP00000441969:S679L	ENSP00000385328:S720L	S	-	2	0	RNF43	53789977	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.986000	0.56937	2.698000	0.92095	0.511000	0.50034	TCA		TCGA-YY-A8LH-01A-11D-A36O-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	37	284	0	126	1	9.873056e-01	5	50	0	126	2	1	1	24	196	0	462	2	1	1.000000	37	282	0	126	2		0	0	0	0	126	2	-3.142717	1	1	0	0		1	0	3	3	1.475516	1	0.550000	3.730000	0.626091	0.520000	3.600000e-01	1.000000	0.500000	0.603510	0.520000	0	4.400000e-01	1.000000
RNF43	54894	broad.mit.edu	37	17	56435359	56435359	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56435359G>A	ENST00000584437.1	-	8	3733	c.1778C>T	c.(1777-1779)tCt>tTt	p.S593F	RNF43_ENST00000407977.2_Missense_Mutation_p.S593F|RNF43_ENST00000583753.1_Missense_Mutation_p.S552F|RNF43_ENST00000500597.2_Missense_Mutation_p.S552F|RNF43_ENST00000581868.1_Missense_Mutation_p.S466F|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S593F|RNF43_ENST00000577625.1_Missense_Mutation_p.S466F			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				CTGATCAGGAGAAGGTGGCTC	0.652000																								0							SO:0001583	missense			ENST00000584437.1	1	0	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	5.168	0.216617	0.09810	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.21031	2.03;2.03	4.66	3.65	0.41850	.	1.839710	0.02178	N	0.060263	T	0.17280	0.0415	N	0.24115	0.695	0.09310	N	1	B;B;B	0.14012	0.001;0.009;0.0	B;B;B	0.14023	0.005;0.01;0.002	T	0.19224	-1.0312	10	0.59425	D	0.04	-13.7741	5.2898	0.15721	0.1836:0.0:0.8164:0.0	.	552;593;593	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	F	593;552	ENSP00000385328:S593F;ENSP00000441969:S552F	ENSP00000385328:S593F	S	-	2	0	RNF43	53790358	0.633000	0.27181	0.009000	0.14445	0.257000	0.26127	3.840000	0.55843	1.049000	0.40321	0.205000	0.17691	TCT		TCGA-YY-A8LH-01A-11D-A36O-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	0	51	381	0	143	1	9.872006e-01	3	50	0	143	2	1	1	29	236	1	513	4	1	1.000000	51	374	0	143	2		0	0	0	0	143	2	-18.988750	1	0	0	0		1	0	3	3	1.475516	1	0.550000	3.730000	0.626091	0.530000	3.900000e-01	1.000000	0.520000	0.611441	0.530000	0	4.500000e-01	1.000000
RNF43	54894	broad.mit.edu	37	17	56448366	56448366	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56448366C>A	ENST00000584437.1	-	2	2236	c.281G>T	c.(280-282)aGt>aTt	p.S94I	RNF43_ENST00000407977.2_Missense_Mutation_p.S94I|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.S94I|RNF43_ENST00000577625.1_5'UTR			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GTCGTCATCACTGGCATTGCA	0.582000																								0							SO:0001583	missense			ENST00000584437.1	1	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006071	0.93287	.	.	ENSG00000108375	ENST00000407977	T	0.47177	0.85	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.27053	0.805	0.80722	D	1	D	0.57257	0.979	P	0.60415	0.874	T	0.41787	-0.9489	10	0.22706	T	0.39	-22.6639	18.2765	0.90085	0.0:1.0:0.0:0.0	.	94	Q68DV7	RNF43_HUMAN	I	94	ENSP00000385328:S94I	ENSP00000385328:S94I	S	-	2	0	RNF43	53803365	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.495000	0.73665	2.555000	0.86185	0.655000	0.94253	AGT		TCGA-YY-A8LH-01A-11D-A36O-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	60	112	0	66	1	9.999600e-01	21	12	0	66	2	1	1	115	197	0	596	2	1	1.000000	59	111	0	65	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	0	3	3	1.475516	1	0.550000	3.730000	0.626091	0.990000	9.900000e-01	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1.000000
HSF5	124535	broad.mit.edu	37	17	56557381	56557381	+	Silent	SNP	G	G	A	rs115372024	byFrequency	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:56557381G>A	ENST00000323777.3	-	2	907	c.798C>T	c.(796-798)acC>acT	p.T266T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5			16	Medulloblastoma(34;0.127)|all_neural(34;0.237)				GCAGTGTATAGGTAACCTCAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000323777.3	1	1	hg19	CCDS32690.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	1	0	1	135	277	0	185		0	0	0	0	185	2		0	0	0	0	0	2	1	1.000000	134	274	0	182	2		0	0	0	0	185	2	-2.920853	1	1	121412	104	55	1	0	3	3	1.475516	1	0.550000	3.730000	0.626091	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
POLR2A	5430	broad.mit.edu	37	17	7416998	7416998	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:7416998C>T	ENST00000322644.6	+	29	5814	c.5415C>T	c.(5413-5415)tcC>tcT	p.S1805S		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa			50		Prostate(122;0.173)			CAAGTTACTCCCCTTCCAGCC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000322644.6	1	1	hg19	CCDS32548.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	1	0	1	113	761	0	429	1	1	59	253	0	429	2		0	0	0	0	0	2	1	1.000000	109	739	0	423	2		0	0	0	0	429	2	-20.000000	1	1	0	0		1	0	2	2	1.436748	1	0.550000	3.730000	0.550000	0.460000	3.800000e-01	0.550000	0.470000	0.472772	0.460000	0	4.200000e-01	0.510000
ARHGEF15	22899	broad.mit.edu	37	17	8216367	8216367	+	Silent	SNP	G	G	A	rs150417950		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr17:8216367G>A	ENST00000361926.3	+	3	839	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ARHGEF15_ENST00000421050.1_Silent_p.P243P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15			37					GGGCCTCCCCGCTGCGGACCT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000361926.3	1	1	hg19	CCDS11139.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	0	0	0	12	271	0	137	0	6.465165e-03	0	3	0	137	2		0	0	0	0	0	2	1	0.999055	12	265	0	132	2		0	0	0	0	137	2	-3.273029	1	1	121406	1	33	1	0	2	2	1.436748	1	0.550000	3.730000	0.550000	0.150000	8.000000e-02	0.260000	0.160000	0.165375	0.150000	0	1.100000e-01	0.210000
LAMA3	3909	broad.mit.edu	37	18	21355821	21355821	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:21355821C>G	ENST00000313654.9	+	10	1580	c.1339C>G	c.(1339-1341)Cca>Gca	p.P447A	LAMA3_ENST00000399516.3_Missense_Mutation_p.P447A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3			128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				TCACTGCAAGCCAAATTTCCA	0.498000																								0							SO:0001583	missense			ENST00000313654.9	0	1	hg19	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	7.523	0.657060	0.14580	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.62105	0.05;0.05	4.76	1.88	0.25563	EGF-like, laminin (4);EGF-like region, conserved site (1);	.	.	.	.	T	0.53158	0.1779	L	0.58510	1.815	0.48288	D	0.99962	B;B;B	0.34399	0.452;0.216;0.064	B;B;B	0.36567	0.228;0.069;0.069	T	0.37596	-0.9699	9	0.18710	T	0.47	.	7.7107	0.28675	0.0:0.7066:0.1346:0.1588	.	447;447;447	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	A	447;447;445;447	ENSP00000324532:P447A;ENSP00000382432:P447A	ENSP00000324532:P447A	P	+	1	0	LAMA3	19609819	0.034000	0.19679	0.358000	0.25811	0.709000	0.40893	0.580000	0.23803	0.603000	0.29913	-0.186000	0.12905	CCA		TCGA-YY-A8LH-01A-11D-A36O-08	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	0	0	6	371	0	89	0	7.547252e-03	0	7	0	89	2		0	0	0	0	0	2	1	0.963808	6	366	0	89	2		0	0	0	0	89	2	-4.506028	1	1	0	0		1	3	3	6	2.191191	1	0.550000	3.730000	0.721535	0.110000	2.000000e-02	1.000000	0.090000	0.321365	0.110000	0	6.000000e-02	1.000000
TCEB3B	51224	broad.mit.edu	37	18	44559687	44559687	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr18:44559687G>A	ENST00000332567.4	-	1	2301	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)			58					ATCATAAGGCGTCTTGGCCAC	0.537000																								0							SO:0001583	missense			ENST00000332567.4	1	1	hg19	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307100	0.23821	.	.	ENSG00000206181	ENST00000332567	T	0.07216	3.21	1.4	-0.709	0.11237	.	0.754074	0.11156	U	0.593616	T	0.16471	0.0396	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.15636	-1.0430	10	0.62326	D	0.03	-1.8221	6.9376	0.24474	0.0:0.5733:0.4267:0.0	.	650	Q8IYF1	ELOA2_HUMAN	M	650	ENSP00000331302:T650M	ENSP00000331302:T650M	T	-	2	0	TCEB3B	42813685	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.276000	0.18716	-0.250000	0.09555	-0.222000	0.12452	ACG		TCGA-YY-A8LH-01A-11D-A36O-08	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	1	0	1	261	598	0	280		0	0	0	0	280	2		0	0	0	0	0	2	1	1.000000	259	585	0	279	2		0	0	0	0	280	2	-20.000000	1	1	0	0		1	3	4	7	2.256128	1	0.550000	3.730000	0.728916	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
ZNF709	163051	broad.mit.edu	37	19	12575884	12575884	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:12575884T>C	ENST00000397732.3	-	4	1023	c.852A>G	c.(850-852)caA>caG	p.Q284Q	ZNF709_ENST00000428311.1_Silent_p.Q284Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709			6					CTTTACCACATTGCTTACACT	0.373000													GBM(33;565 669 12371 29134 51667)											0							SO:0001819	synonymous_variant			ENST00000397732.3	1	1	hg19	CCDS42504.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	1	0	0	142	268	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1.000000	140	266	0	104	2		0	0	0	0	108	2	-20.000000	1	1	121280	1	35	1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
FARSA	2193	broad.mit.edu	37	19	13039582	13039582	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:13039582C>T	ENST00000314606.4	-	5	601	c.583G>A	c.(583-585)Gag>Aag	p.E195K	FARSA_ENST00000588025.1_Missense_Mutation_p.E235K|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Intron	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit			20				L-Phenylalanine(DB00120)	GAGATCATCTCTGGGCTCAGC	0.627000																								0							SO:0001583	missense			ENST00000314606.4	1	1	hg19	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517058	0.85495	.	.	ENSG00000179115	ENST00000314606	T	0.68903	-0.36	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.91872	3.25	0.80722	D	1	D;D	0.57571	0.98;0.98	P;P	0.55222	0.771;0.771	D	0.87035	0.2137	10	0.87932	D	0	-15.1624	17.0788	0.86593	0.0:1.0:0.0:0.0	.	195;195	Q6IBR2;Q9Y285	.;SYFA_HUMAN	K	195	ENSP00000320309:E195K	ENSP00000320309:E195K	E	-	1	0	FARSA	12900582	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.952000	0.75989	2.563000	0.86464	0.563000	0.77884	GAG		TCGA-YY-A8LH-01A-11D-A36O-08	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	1	0	1	61	231	0	91	1	1	80	135	0	91	2		0	0	0	0	0	2	1	1.000000	61	228	0	91	2		0	0	0	0	91	2	-3.497112	1	1	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.990000	9.200000e-01	1.000000	1.000000	0.995726	0.990000	1	9.900000e-01	1.000000
ZNF208	7757	broad.mit.edu	37	19	22171676	22171676	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:22171676G>T	ENST00000397126.4	-	2	187	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ZNF208_ENST00000601773.1_Missense_Mutation_p.F13L|ZNF208_ENST00000599916.1_Missense_Mutation_p.F13L|ZNF208_ENST00000597040.1_5'UTR	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208			113		all_lung(12;0.0961)|Lung NSC(12;0.103)			CCTCCAGAGAGAATTCTATGG	0.408000																								0							SO:0001583	missense			ENST00000397126.4	1	1	hg19	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805557	0.31961	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.12879	2.64	1.32	-0.37	0.12530	Krueppel-associated box (4);	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	D;B	0.57571	0.98;0.087	P;B	0.60012	0.867;0.084	T	0.12785	-1.0534	8	0.72032	D	0.01	.	3.7697	0.08636	0.0:0.0:0.5735:0.4265	.	13;13	O43345;F8WEA0	ZN208_HUMAN;.	L	13	ENSP00000380315:F13L	ENSP00000380315:F13L	F	-	3	2	ZNF208	21963516	0.005000	0.15991	0.009000	0.14445	0.601000	0.36947	-0.135000	0.10420	0.636000	0.30508	0.281000	0.19383	TTC		TCGA-YY-A8LH-01A-11D-A36O-08	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	0	0	0	23	875	0	237	0	0	0	1	0	237	2		0	0	0	0	0	2	1	0.999998	23	791	0	235	2		0	0	0	0	237	2	-3.006749	1	1	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.140000	8.000000e-02	0.220000	0.160000	0.150196	0.140000	0	1.000000e-01	0.180000
ZNF555	148254	broad.mit.edu	37	19	2852530	2852530	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:2852530G>A	ENST00000334241.4	+	4	605	c.467G>A	c.(466-468)cGc>cAc	p.R156H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R155H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555			23					ATGCATCGCCGCACATCCCTC	0.468000																								0							SO:0001583	missense			ENST00000334241.4	0	1	hg19	CCDS12096.1	.	.	.	.	.	.	.	.	.	.	G	7.901	0.734449	0.15574	.	.	ENSG00000186300	ENST00000334241;ENST00000382127	T	0.76448	-1.02	3.4	-6.8	0.01709	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.54062	0.1835	N	0.20685	0.6	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42965	-0.9420	9	0.12430	T	0.62	.	7.4147	0.27038	0.2247:0.2852:0.4901:0.0	.	156;155	Q8NEP9;A8KA89	ZN555_HUMAN;.	H	156;155	ENSP00000334853:R156H	ENSP00000334853:R156H	R	+	2	0	ZNF555	2803530	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.082000	0.14847	-1.664000	0.01479	-1.567000	0.00876	CGC		TCGA-YY-A8LH-01A-11D-A36O-08	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451637.3	0	0	0	5	380	0	91	0	3.971434e-03	1	5	0	91	2		0	0	0	0	0	2	1	0.936204	5	376	0	91	2		0	0	0	0	91	2	-2.200178	0	1	121412	2	36	1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.070000	1.000000e-02	0.170000	0.080000	0.086682	0.070000	0	4.000000e-02	0.120000
ZNF536	9745	broad.mit.edu	37	19	30936183	30936183	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:30936183G>T	ENST00000355537.3	+	2	1861	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				AGTGGGAGCAGATGGCTCCAA	0.527000																								0							SO:0001583	missense			ENST00000355537.3	1	1	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973891	0.34848	.	.	ENSG00000198597	ENST00000355537	T	0.46819	0.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.51450	-0.8704	10	0.08599	T	0.76	-22.8705	19.4573	0.94900	0.0:0.0:1.0:0.0	.	572;572	A7E228;O15090	.;ZN536_HUMAN	Y	572	ENSP00000347730:D572Y	ENSP00000347730:D572Y	D	+	1	0	ZNF536	35628023	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.435000	0.97529	2.582000	0.87167	0.655000	0.94253	GAT		TCGA-YY-A8LH-01A-11D-A36O-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	0	30	326	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1.000000	30	320	0	106	2		0	0	0	0	108	2	-20.000000	1	1	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.470000	3.200000e-01	0.650000	0.480000	0.487515	0.470000	0	3.900000e-01	0.570000
ZNF585B	92285	broad.mit.edu	37	19	37677796	37677796	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:37677796C>T	ENST00000532828.2	-	5	894	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	ZNF585B_ENST00000531805.1_Missense_Mutation_p.E160K|ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_Silent_p.*158*	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B			29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TCACTACATTCATATAGTTTT	0.388000													Melanoma(93;882 1454 18863 28917 48427)											0							SO:0001583	missense			ENST00000532828.2	0	1	hg19	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	0.207	-1.040081	0.02013	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.19250	2.16;2.16	2.78	0.507	0.16967	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.683944	0.12041	N	0.505100	T	0.06280	0.0162	N	0.04148	-0.265	0.09310	N	0.999998	B;B	0.14438	0.006;0.01	B;B	0.12156	0.007;0.007	T	0.37267	-0.9713	10	0.08599	T	0.76	.	0.6148	0.00767	0.1968:0.3698:0.1925:0.2409	.	160;215	E9PQH3;Q52M93	.;Z585B_HUMAN	K	160;215	ENSP00000436774:E160K;ENSP00000433773:E215K	ENSP00000436774:E160K	E	-	1	0	ZNF585B	42369636	0.000000	0.05858	0.080000	0.20451	0.159000	0.22180	-2.725000	0.00808	0.069000	0.16605	-0.384000	0.06662	GAA		TCGA-YY-A8LH-01A-11D-A36O-08	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	0	0	0	8	600	0	171	0	2.329209e-03	0	5	0	171	2		0	0	0	0	0	2	1	0.988851	8	592	0	171	2		0	0	0	0	171	2	-3.077771	1	1	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.070000	1.000000e-02	0.150000	0.080000	0.083343	0.070000	0	4.000000e-02	0.110000
RYR1	6261	broad.mit.edu	37	19	39070714	39070714	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:39070714G>A	ENST00000359596.3	+	100	14457	c.14457G>A	c.(14455-14457)atG>atA	p.M4819I	RYR1_ENST00000360985.3_Missense_Mutation_p.M4814I|RYR1_ENST00000355481.4_Missense_Mutation_p.M4814I			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACATCGCCATGGGGGTCAAGA	0.597000																								0							SO:0001583	missense			ENST00000359596.3	0	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962210	0.53400	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98400	-4.91;-4.91;-4.91	4.57	4.57	0.56435	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.98040	0.9354	L	0.38953	1.18	0.58432	D	0.999997	D;D	0.54964	0.962;0.969	D;D	0.70227	0.946;0.968	D	0.98600	1.0658	10	0.46703	T	0.11	.	17.129	0.86722	0.0:0.0:1.0:0.0	.	4814;4819	P21817-2;P21817	.;RYR1_HUMAN	I	4819;4814;4814	ENSP00000352608:M4819I;ENSP00000347667:M4814I;ENSP00000354254:M4814I	ENSP00000347667:M4814I	M	+	3	0	RYR1	43762554	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.612000	0.98347	2.357000	0.79964	0.462000	0.41574	ATG		TCGA-YY-A8LH-01A-11D-A36O-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	0	5	314	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	0.934858	5	308	0	80	2		0	0	0	0	80	2	-2.795017	1	1	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.090000	2.000000e-02	0.200000	0.080000	0.105002	0.090000	0	5.000000e-02	0.150000
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6			44		Prostate(69;0.00899)			GTTAGAGTCCGCAAAGCAGGA	0.448000																								0							SO:0001583	missense			ENST00000292125.2	0	1	hg19	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	0	0	8	1085	0	307		0	0	0	0	307	2		0	0	0	0	0	2	1	0.988613	7	1068	0	305	2		0	0	0	0	307	2	-1.713217	0	1	121350	3	44	1	3	3	6	2.212610	1	0.550000	3.730000	0.725275	0.040000	0	1.000000	0.040000	0.271785	0.040000	0	2.000000e-02	1.000000
GPR4	2828	broad.mit.edu	37	19	46094142	46094142	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46094142G>T	ENST00000323040.4	-	2	1927	c.983C>A	c.(982-984)aCc>aAc	p.T328N	GPR4_ENST00000591614.1_5'Flank|OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4			23					CCTCTTGGAGGTGAGTGGGGT	0.652000													Esophageal Squamous(117;181 1612 1673 14956 42937)											0							SO:0001583	missense			ENST00000323040.4	1	1	hg19	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674372	0.47781	.	.	ENSG00000177464	ENST00000323040	T	0.61742	0.08	4.53	4.53	0.55603	.	0.190762	0.35378	N	0.003255	T	0.32133	0.0819	N	0.08118	0	0.30785	N	0.741534	B	0.34103	0.437	B	0.27500	0.08	T	0.28870	-1.0030	10	0.19147	T	0.46	.	12.6317	0.56661	0.0:0.0:1.0:0.0	.	328	P46093	GPR4_HUMAN	N	328	ENSP00000319744:T328N	ENSP00000319744:T328N	T	-	2	0	GPR4	50785982	0.977000	0.34250	0.425000	0.26659	0.971000	0.66376	6.583000	0.74053	2.356000	0.79943	0.455000	0.32223	ACC		TCGA-YY-A8LH-01A-11D-A36O-08	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	0	0	0	13	552	0	119	0	7.432037e-02	0	18	0	119	2		0	0	0	0	0	2	1	0.999494	13	544	0	118	2		0	0	0	0	119	2	-3.414721	1	1	0	0		1	3	6	9	2.722969	1	0.550000	3.730000	0.775112	0.190000	8.000000e-02	1.000000	0.170000	0.378109	0.190000	0	1.300000e-01	1.000000
NANOS2	339345	broad.mit.edu	37	19	46417571	46417571	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:46417571G>A	ENST00000341294.2	-	1	465	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)			6		Ovarian(192;0.0308)|all_neural(266;0.0476)			AGTTGCGCCCGCTGCGGCGGT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000341294.2	1	1	hg19	CCDS33056.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1	1	0	0	12	152	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.999137	11	150	0	34	2		0	0	0	0	34	2	-16.511560	1	1	0	0		1	3	6	9	2.722969	1	0.550000	3.730000	0.775112	0.610000	3.100000e-01	1.000000	0.520000	0.672828	0.610000	0	4.300000e-01	1.000000
ZNF350	59348	broad.mit.edu	37	19	52469393	52469393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52469393C>A	ENST00000243644.4	-	5	540	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350			26		all_neural(266;0.0505)			GCATCATGTTCATGACATGGT	0.363000																								0							SO:0001587	stop_gained			ENST00000243644.4	0	1	hg19	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054148	0.55218	.	.	ENSG00000256683	ENST00000243644	.	.	.	3.25	-3.54	0.04653	.	0.733993	0.11162	N	0.592957	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	4.1621	0.10289	0.0:0.3024:0.19:0.5075	.	.	.	.	X	105	.	ENSP00000243644:E105X	E	-	1	0	ZNF350	57161205	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.533000	0.06157	-0.395000	0.07715	-0.142000	0.14014	GAA		TCGA-YY-A8LH-01A-11D-A36O-08	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	0	0	0	8	541	0	131	0	1.706219e-02	0	12	0	131	2		0	0	0	0	0	2	1	0.988890	7	536	0	130	2		0	0	0	0	131	2	-2.781414	1	1	0	0		1	2	2	4	2.155460	1	0.550000	3.730000	0.709677	0.080000	2.000000e-02	0.160000	0.080000	0.092338	0.080000	0	5.000000e-02	0.130000
PPP2R1A	5518	broad.mit.edu	37	19	52714630	52714630	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:52714630C>T	ENST00000322088.6	+	4	446	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P75S	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha			135					GCACTTTGTGCCGCTAGTGAA	0.657000			Mis		clear cell ovarian carcinoma										Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0							SO:0001583	missense			ENST00000322088.6	0	1	hg19	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624587	0.46840	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.35973	1.28;1.28	4.46	4.46	0.54185	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	T	0.43897	0.1268	M	0.85373	2.75	0.58432	D	0.999999	P;P;P	0.37233	0.493;0.588;0.588	B;B;B	0.34301	0.179;0.102;0.102	T	0.56757	-0.7926	10	0.66056	D	0.02	-36.5931	15.0187	0.71609	0.0:1.0:0.0:0.0	.	75;130;130	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	S	120;130;75	ENSP00000324804:P130S;ENSP00000415067:P75S	ENSP00000324804:P130S	P	+	1	0	PPP2R1A	57406442	1.000000	0.71417	0.994000	0.49952	0.038000	0.13279	6.787000	0.75099	2.482000	0.83794	0.655000	0.94253	CCG		TCGA-YY-A8LH-01A-11D-A36O-08	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	0	0	0	5	420	1	110	0	2.656785e-02	0	414	1	110	14		0	0	0	0	0	2	1	0.911943	5	365	0	80	2		0	0	0	1	110	2	-2.559621	1	1	0	0		1	2	2	4	2.155460	1	0.550000	3.730000	0.709677	0.070000	1.000000e-02	0.150000	0.080000	0.078196	0.070000	0	3.000000e-02	0.110000
RPL36	25873	broad.mit.edu	37	19	5691442	5691442	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:5691442C>T	ENST00000577222.1	+	5	750	c.206C>T	c.(205-207)gCc>gTc	p.A69V	RPL36_ENST00000579649.1_Missense_Mutation_p.A69V|RPL36_ENST00000394580.2_Missense_Mutation_p.A69V|RPL36_ENST00000579446.1_Missense_Mutation_p.A69V|RPL36_ENST00000347512.3_Missense_Mutation_p.A69V			Q9Y3U8	RL36_HUMAN	ribosomal protein L36			2					GACAAACGGGCCCTCAAATTT	0.642000											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000577222.1	0	1	hg19	CCDS12147.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311575	0.81358	.	.	ENSG00000130255	ENST00000347512;ENST00000394580	T;T	0.60920	0.15;0.15	4.21	4.21	0.49690	.	0.000000	0.85682	U	0.000000	T	0.77850	0.4192	H	0.95574	3.69	0.80722	D	1	P	0.48503	0.911	P	0.53360	0.724	D	0.85194	0.1011	10	0.72032	D	0.01	.	14.0553	0.64764	0.0:1.0:0.0:0.0	.	69	Q9Y3U8	RL36_HUMAN	V	69	ENSP00000252543:A69V;ENSP00000378081:A69V	ENSP00000252543:A69V	A	+	2	0	RPL36	5642442	1.000000	0.71417	0.959000	0.39883	0.303000	0.27691	7.568000	0.82369	1.881000	0.54492	0.467000	0.42956	GCC		TCGA-YY-A8LH-01A-11D-A36O-08	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	0	0	0	7	383	0	106	1	1	85	6342	0	106	2		0	0	0	0	0	2	1	0.979350	7	376	0	105	2		0	0	0	0	106	2	-3.075512	1	0	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.100000	3.000000e-02	0.200000	0.110000	0.115033	0.100000	0	6.000000e-02	0.160000
MUC16	94025	broad.mit.edu	37	19	9058858	9058858	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr19:9058858C>G	ENST00000397910.4	-	3	28791	c.28588G>C	c.(28588-28590)Gag>Cag	p.E9530Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TAGAGTTCCTCTGTAGCACTG	0.483000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223796	0.09863	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	2.3	-0.0756	0.13726	.	.	.	.	.	T	0.10465	0.0256	N	0.08118	0	.	.	.	B	0.16603	0.018	B	0.17979	0.02	T	0.16748	-1.0392	8	0.87932	D	0	.	8.0918	0.30805	0.0:0.5336:0.4664:0.0	.	9530	B5ME49	.	Q	9530	ENSP00000381008:E9530Q	ENSP00000381008:E9530Q	E	-	1	0	MUC16	8919858	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.149000	0.10204	0.072000	0.16694	0.305000	0.20034	GAG		TCGA-YY-A8LH-01A-11D-A36O-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	12	348	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.999108	11	346	0	95	2		0	0	0	0	95	2	-2.928019	1	1	0	0		1	2	2	4	2.124233	1	0.550000	3.730000	0.709677	0.190000	9.000000e-02	0.320000	0.200000	0.202186	0.190000	0	1.400000e-01	0.260000
COL11A1	1301	broad.mit.edu	37	1	103427802	103427802	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:103427802C>G	ENST00000370096.3	-	40	3356	c.3044G>C	c.(3043-3045)gGt>gCt	p.G1015A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G899A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1027A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G976A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1			258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)			CCCTGAGATACCTTGAGGACC	0.383000																								0							SO:0001583	missense			ENST00000370096.3	1	1	hg19	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822094	0.71028	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.37	5.37	0.77165	.	0.061018	0.64402	D	0.000003	D	0.99753	0.9901	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.997;0.998;0.998;0.995;0.994	D	0.97603	1.0124	10	0.59425	D	0.04	.	19.1062	0.93296	0.0:1.0:0.0:0.0	.	899;976;1027;1015;235	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1015;1027;976;235;899	ENSP00000359114:G1015A;ENSP00000351163:G1027A;ENSP00000302551:G976A;ENSP00000426533:G899A	ENSP00000302551:G976A	G	-	2	0	COL11A1	103200390	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.509000	0.84616	0.557000	0.71058	GGT		TCGA-YY-A8LH-01A-11D-A36O-08	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	1	0	1	98	225	0	94	0	5.880410e-01	0	6	0	94	2		0	0	0	0	0	2	1	1.000000	98	221	0	94	2		0	0	0	0	94	2	-20.000000	1	1	0	0		1	0	4	4	1.660921	1	0.550000	3.730000	0.631148	0.990000	9.900000e-01	1.000000	1.000000	0.999988	0.990000	1	9.900000e-01	1.000000
PSMB4	5692	broad.mit.edu	37	1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4			14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		TCGCATTATGCGAGTCAACAA	0.537000																								0							SO:0001587	stop_gained			ENST00000290541.6	0	1	hg19	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	0	0	0	7	1111	0	263	1	9.915177e-01	3	1382	0	263	2		0	0	0	0	0	2	1	0.979696	7	1097	0	260	2		0	0	0	0	263	2	-1.724933	0	0	0	0		1	3	5	8	2.670671	1	0.550000	3.730000	0.773869	0.060000	0	1.000000	0.060000	0.276291	0.060000	0	3.000000e-02	1.000000
GATAD2B	57459	broad.mit.edu	37	1	153789912	153789912	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:153789912G>A	ENST00000368655.4	-	6	1079	c.836C>T	c.(835-837)cCg>cTg	p.P279L		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B			38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		AGGCTTAGGCGGGCCCCGCTG	0.527000																								0							SO:0001583	missense			ENST00000368655.4	1	1	hg19	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284508	0.40394	.	.	ENSG00000143614	ENST00000368655	T	0.35605	1.3	5.87	5.87	0.94306	.	0.054498	0.85682	D	0.000000	T	0.19248	0.0462	L	0.38175	1.15	0.80722	D	1	D	0.53619	0.961	B	0.36989	0.238	T	0.02126	-1.1209	10	0.40728	T	0.16	-4.5218	19.3531	0.94398	0.0:0.0:1.0:0.0	.	279	Q8WXI9	P66B_HUMAN	L	279	ENSP00000357644:P279L	ENSP00000357644:P279L	P	-	2	0	GATAD2B	152056536	1.000000	0.71417	0.931000	0.37212	0.149000	0.21700	6.016000	0.70798	2.941000	0.99782	0.655000	0.94253	CCG		TCGA-YY-A8LH-01A-11D-A36O-08	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	1	0	1	103	284	0	79	1	6.720691e-01	2	6	0	79	2		0	0	0	0	0	2	1	1.000000	100	279	0	79	2		0	0	0	0	79	2	-6.151129	1	1	121412	6	39	1	3	5	8	2.670671	1	0.550000	3.730000	0.773869	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
ADAR	103	broad.mit.edu	37	1	154569625	154569625	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:154569625T>C	ENST00000368474.4	-	5	2252	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	ADAR_ENST00000368471.3_Missense_Mutation_p.T390A|ADAR_ENST00000292205.5_Missense_Mutation_p.T728A	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific			51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)		ATGGAGTTGGTCGCCTCCCCA	0.522000																								0							SO:0001583	missense			ENST00000368474.4	0	1	hg19	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	4.071	0.011032	0.07912	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14022	2.74;2.75;2.54;2.76	5.43	-3.95	0.04118	.	0.826008	0.10923	N	0.619176	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.47837	-0.9086	10	0.06625	T	0.88	-5.3793	9.0032	0.36094	0.1254:0.5779:0.0:0.2967	.	685;685;685	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	A	728;685;390;680	ENSP00000292205:T728A;ENSP00000357459:T685A;ENSP00000357456:T390A;ENSP00000431794:T680A	ENSP00000292205:T728A	T	-	1	0	ADAR	152836249	0.001000	0.12720	0.000000	0.03702	0.428000	0.31595	0.036000	0.13819	-0.609000	0.05724	0.533000	0.62120	ACC		TCGA-YY-A8LH-01A-11D-A36O-08	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	0	0	0	6	327	0	94	1	8.938192e-01	5	215	0	94	2		0	0	0	0	0	2	1	0.964349	6	324	0	94	2		0	0	0	0	94	2	-6.781585	1	1	0	0		1	3	5	8	2.670671	1	0.550000	3.730000	0.773869	0.160000	4.000000e-02	1.000000	0.120000	0.348384	0.160000	0	9.000000e-02	1.000000
LMNA	4000	broad.mit.edu	37	1	156105808	156105808	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156105808G>A	ENST00000368300.4	+	6	1265	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	LMNA_ENST00000368299.3_Silent_p.R351R|LMNA_ENST00000448611.2_Silent_p.R239R|LMNA_ENST00000392353.3_Silent_p.R270R|LMNA_ENST00000368297.1_Silent_p.R270R|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368301.2_Silent_p.R351R|LMNA_ENST00000473598.2_Silent_p.R252R|LMNA_ENST00000361308.4_Silent_p.R351R|LMNA_ENST00000347559.2_Silent_p.R351R	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C			10	Hepatocellular(266;0.158)				TGCGGGCAAGGATGCAGCAGC	0.647000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	ENST00000368300.4	1	0	hg19	CCDS1129.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	1	0	0	12	232	0	74	1	1	98	1725	0	74	2		0	0	0	0	0	2	1	0.999026	12	225	0	73	2		0	0	0	0	74	2	-14.306460	1	1	0	0		1	3	5	8	2.670671	1	0.550000	3.730000	0.773869	0.410000	2.000000e-01	1.000000	0.340000	0.525588	0.410000	0	2.800000e-01	1.000000
INSRR	3645	broad.mit.edu	37	1	156824033	156824033	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:156824033C>T	ENST00000368195.3	-	2	544	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor			42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				CCCTCCACCACGCTGCAGTTC	0.627000																								0							SO:0001583	missense			ENST00000368195.3	1	1	hg19	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450024	0.63290	.	.	ENSG00000027644	ENST00000368195	D	0.82081	-1.57	5.06	4.15	0.48705	EGF receptor, L domain (1);	0.000000	0.41294	D	0.000916	D	0.87939	0.6304	.	.	.	0.48341	D	0.999632	D	0.89917	1.0	D	0.81914	0.995	D	0.89318	0.3638	9	0.72032	D	0.01	.	11.4951	0.50404	0.0:0.9113:0.0:0.0887	.	50	P14616	INSRR_HUMAN	M	50	ENSP00000357178:V50M	ENSP00000357178:V50M	V	-	1	0	INSRR	155090657	0.646000	0.27295	0.893000	0.35052	0.832000	0.47134	1.287000	0.33284	1.146000	0.42352	-0.252000	0.11476	GTG		TCGA-YY-A8LH-01A-11D-A36O-08	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	1	0	1	69	111	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	69	109	0	42	2		0	0	0	0	42	2	-20.000000	1	1	121410	15	40	1	3	5	8	2.670671	1	0.550000	3.730000	0.773869	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
CLCNKA	1187	broad.mit.edu	37	1	16353850	16353850	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:16353850G>A	ENST00000331433.4	+	8	720	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	CLCNKA_ENST00000420078.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Missense_Mutation_p.R234Q|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R191Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka			19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		Niflumic Acid(DB04552)	TTCTCTGTCCGGGATTACTGG	0.637000																								0							SO:0001583	missense			ENST00000331433.4	0	1	hg19	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397759	0.62177	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	3.02	3.02	0.34903	Chloride channel, core (2);	0.189554	0.45606	D	0.000349	D	0.94212	0.8142	M	0.68728	2.09	0.28863	N	0.895394	B;P;B	0.39480	0.364;0.675;0.364	B;P;B	0.46026	0.342;0.501;0.342	D	0.90856	0.4735	10	0.51188	T	0.08	.	13.4842	0.61355	0.0:0.0:1.0:0.0	.	191;234;234	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	Q	234;234;191;234	ENSP00000364844:R234Q;ENSP00000410353:R234Q;ENSP00000414445:R191Q;ENSP00000332771:R234Q	ENSP00000332771:R234Q	R	+	2	0	CLCNKA	16226437	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.291000	0.65667	1.674000	0.50907	0.313000	0.20887	CGG		TCGA-YY-A8LH-01A-11D-A36O-08	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1	0	0	0	12	593	0	215	0	0	0	1	0	215	2		0	0	0	0	0	2	1	0.998940	12	574	0	212	2		0	0	0	0	215	2	-2.080577	0	1	0	0		1	0	6	6	1.806204	1	0.550000	3.730000	0.661654	0.100000	4.000000e-02	1.000000	0.100000	0.284638	0.100000	0	7.000000e-02	1.000000
F5	2153	broad.mit.edu	37	1	169519117	169519117	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:169519117G>C	ENST00000367797.3	-	10	1734	c.1533C>G	c.(1531-1533)atC>atG	p.I511M	F5_ENST00000367796.3_Missense_Mutation_p.I511M|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)			128	all_hematologic(923;0.208)			ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGTCTCTCATGATGTCCACGT	0.433000																								0							SO:0001583	missense			ENST00000367797.3	0	1	hg19	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049094	0.19827	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98602	-5.02;-5.02	5.71	0.262	0.15597	Cupredoxin (2);	0.596635	0.18720	N	0.133041	D	0.85600	0.5734	N	0.11064	0.09	0.25005	N	0.991444	B	0.26195	0.144	B	0.18263	0.021	T	0.74819	-0.3535	9	0.15066	T	0.55	-0.6017	7.1569	0.25643	0.2659:0.4684:0.2657:0.0	.	511	P12259	FA5_HUMAN	M	511	ENSP00000356771:I511M;ENSP00000356770:I511M	ENSP00000356770:I511M	I	-	3	3	F5	167785741	0.072000	0.21174	0.226000	0.23910	0.924000	0.55760	-0.367000	0.07553	0.060000	0.16281	-0.175000	0.13238	ATC		TCGA-YY-A8LH-01A-11D-A36O-08	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	0	0	8	479	0	102	0	3.654612e-02	0	16	0	102	2		0	0	0	0	0	2	1	0.988842	8	472	0	100	2		0	0	0	0	102	2	-3.240787	1	1	0	0		1	3	6	9	2.666250	1	0.550000	3.730000	0.770701	0.140000	4.000000e-02	1.000000	0.110000	0.342269	0.140000	0	8.000000e-02	1.000000
MRPS14	63931	broad.mit.edu	37	1	174983906	174983906	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:174983906G>A	ENST00000476371.1	-	3	302	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14	p.R96S(1)		10					CCACGCGGACGGGACGTCATA	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000476371.1	0	1	hg19	CCDS1316.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899841	0.91962	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94083	0.7346	9	0.87932	D	0	-16.0916	20.6593	0.99626	0.0:0.0:1.0:0.0	.	96	O60783	RT14_HUMAN	C	96	.	ENSP00000420714:R96C	R	-	1	0	MRPS14	173250529	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.365000	0.73090	2.885000	0.99019	0.655000	0.94253	CGT		TCGA-YY-A8LH-01A-11D-A36O-08	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084416.2	0	0	0	9	540	1	133	0	8.914797e-02	4	187	1	133	7		0	0	0	0	0	2	0	0.134414	8	526	1	130	15		0	0	0	1	133	2	-1.977340	0	1	0	0		1	3	6	9	2.666250	1	0.550000	3.730000	0.770701	0.140000	4.000000e-02	1.000000	0.110000	0.341029	0.140000	0	8.000000e-02	1.000000
CFHR1	3078	broad.mit.edu	37	1	196797211	196797211	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:196797211G>T	ENST00000320493.5	+	4	530	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L	CFHR1_ENST00000367424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1			11					CACTTCCTGTGTGAATCCGCC	0.383000																								0							SO:0001583	missense			ENST00000320493.5	0	1	hg19	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	6.008	0.369878	0.11352	.	.	ENSG00000244414	ENST00000320493	T	0.64260	-0.09	2.89	1.95	0.26073	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.55561	0.1928	L	0.37466	1.105	0.80722	D	1	B;D	0.54047	0.387;0.964	B;P	0.52554	0.326;0.702	T	0.47995	-0.9073	9	0.28530	T	0.3	.	6.0102	0.19571	0.1541:0.0:0.8459:0.0	.	148;1049	Q03591;A8K5T0	FHR1_HUMAN;.	L	148	ENSP00000314299:V148L	ENSP00000314299:V148L	V	+	1	0	CFHR1	195063834	0.321000	0.24625	0.995000	0.50966	0.022000	0.10575	0.327000	0.19663	0.520000	0.28426	0.398000	0.26397	GTG		TCGA-YY-A8LH-01A-11D-A36O-08	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	0	0	0	8	579	0	135		0	0	0	0	135	2		0	0	0	0	0	2	1	0.988836	8	571	0	133	2		0	0	0	0	135	2	-6.444139	1	1	0	0		1	3	6	9	2.666250	1	0.550000	3.730000	0.770701	0.110000	2.000000e-02	1.000000	0.110000	0.325133	0.110000	0	6.000000e-02	1.000000
ANGEL2	90806	broad.mit.edu	37	1	213178772	213178772	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:213178772C>A	ENST00000366962.3	-	5	891	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ANGEL2_ENST00000535388.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000544555.1_Missense_Mutation_p.R77L|ANGEL2_ENST00000540642.1_Missense_Mutation_p.R120L|ANGEL2_ENST00000360506.2_Missense_Mutation_p.R77L	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	p.R246L(1)		24					CCTTCCTGTCCGCATCTTATA	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366962.3	0	1	hg19	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606850	0.87157	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388	D;D;D;D;D	0.95622	-3.76;-3.16;-3.16;-3.76;-3.16	5.45	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.060391	0.64402	D	0.000003	D	0.98137	0.9385	M	0.93420	3.415	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.77557	0.959;0.99	D	0.99007	1.0813	10	0.87932	D	0	-10.8417	13.6511	0.62312	0.0:0.9244:0.0:0.0756	.	120;246	F5H476;Q5VTE6	.;ANGE2_HUMAN	L	246;77;77;120;77	ENSP00000355929:R246L;ENSP00000353696:R77L;ENSP00000443193:R77L;ENSP00000446124:R120L;ENSP00000438141:R77L	ENSP00000353696:R77L	R	-	2	0	ANGEL2	211245395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.604000	0.67626	1.398000	0.46701	0.650000	0.86243	CGG		TCGA-YY-A8LH-01A-11D-A36O-08	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	0	0	0	10	586	0	120	0	4.477750e-02	0	18	0	120	2		0	0	0	0	0	2	1	0.996730	9	580	0	120	2		0	0	0	0	120	2	-2.102206	0	1	0	0		1	3	6	9	2.666250	1	0.550000	3.730000	0.770701	0.140000	5.000000e-02	1.000000	0.110000	0.342352	0.140000	0	9.000000e-02	1.000000
RAB3GAP2	25782	broad.mit.edu	37	1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	rs151225064		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	p.A469V(1)		39					CCTTCTTGGCGCATAGATCAC	0.493000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358951.2	0	1	hg19	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508939	0.96386	0.0	2.33E-4	ENSG00000118873	ENST00000358951	D	0.90444	-2.67	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94568	0.7768	10	0.56958	D	0.05	.	19.7176	0.96129	0.0:0.0:1.0:0.0	.	469	Q9H2M9	RBGPR_HUMAN	V	469	ENSP00000351832:A469V	ENSP00000351832:A469V	A	-	2	0	RAB3GAP2	218431114	1.000000	0.71417	0.907000	0.35723	0.936000	0.57629	9.090000	0.94144	2.670000	0.90874	0.563000	0.77884	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	0	0	0	6	611	0	125	0	8.721834e-03	0	12	0	125	2		0	0	0	0	0	2	1	0.964035	6	606	0	124	2		0	0	0	0	125	2	-1.721084	0	1	121410	19	47	1	3	6	9	2.666250	1	0.550000	3.730000	0.770701	0.080000	1.000000e-02	1.000000	0.060000	0.301197	0.080000	0	4.000000e-02	1.000000
TRIM67	440730	broad.mit.edu	37	1	231339749	231339749	+	Silent	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:231339749A>G	ENST00000366653.5	+	6	1671	c.1671A>G	c.(1669-1671)ggA>ggG	p.G557G	TRIM67_ENST00000449018.3_Silent_p.G495G|TRIM67_ENST00000366652.2_Silent_p.G557G|TRIM67_ENST00000444294.3_Silent_p.G555G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67			29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)			GTGCCGGGGGACAGTTCCGGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000366653.5	1	1	hg19	CCDS44333.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	1	0	1	37	200	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1.000000	37	196	0	37	2		0	0	0	0	37	2	-20.000000	1	1	0	0		1	3	6	9	2.666250	1	0.550000	3.730000	0.770701	0.990000	8.300000e-01	1.000000	1.000000	0.985346	0.990000	1	9.800000e-01	1.000000
ARID1A	8289	broad.mit.edu	37	1	27099950	27099950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:27099950C>T	ENST00000324856.7	+	15	4200	c.3829C>T	c.(3829-3831)Cag>Tag	p.Q1277*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q894*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1277*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	p.G1274fs*7(2)|p.M1273fs(1)	ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			GGGACCACGACAGCACTATCC	0.602000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Complex(1)						SO:0001587	stop_gained			ENST00000324856.7	0	1	hg19	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.172493|9.172493	0.99089|0.99089	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	0.053822|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73938	.|0.3651	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72997	.|-0.4121	.|4	0.09843|.	T|.	0.71|.	-1.2962|-1.2962	18.2413|18.2413	0.89968|0.89968	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1277;1277;894|173	.|.	ENSP00000320485:Q1277X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26972537|26972537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.231000|7.231000	0.78106|0.78106	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	CAG|ACA		TCGA-YY-A8LH-01A-11D-A36O-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1	48	62	0	34	1	9.999679e-01	10	16	0	34	2	1	1	268	416	0	900	2	1	1.000000	47	62	0	33	2		0	0	0	0	34	2	-20.000000	1	1	0	0		1	0	5	5	1.780378	1	0.550000	3.730000	0.653045	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
BSND	7809	broad.mit.edu	37	1	55470697	55470697	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr1:55470697C>T	ENST00000371265.4	+	2	434	c.180C>T	c.(178-180)atC>atT	p.I60I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit			17					GCTTGCAGATCACCTTCGTCC	0.577000													Ovarian(191;1657 2078 22894 42033 48899)											0							SO:0001819	synonymous_variant			ENST00000371265.4	1	1	hg19	CCDS602.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	1	0	1	61	85	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	60	84	0	53	2		0	0	0	0	53	2	-20.000000	1	1	121412	1	33	1	0	5	5	1.780378	1	0.550000	3.730000	0.653045	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
ZHX3	23051	broad.mit.edu	37	20	39832133	39832133	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:39832133G>A	ENST00000309060.3	-	4	1839	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A475V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A475V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A475V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A475V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A475V|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	p.A475V(1)		31		Myeloproliferative disorder(115;0.00425)			CGACTGGGCCGCATTGACCAC	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000309060.3	0	1	hg19	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.997092	0.35226	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.34859	1.34;2.8;2.8;2.59;1.34	5.93	5.93	0.95920	.	0.242897	0.40469	N	0.001094	T	0.32645	0.0836	L	0.40543	1.245	0.18873	N	0.999981	P;B;P	0.41673	0.532;0.348;0.759	B;B;B	0.37480	0.251;0.102;0.176	T	0.38394	-0.9663	10	0.72032	D	0.01	-9.9771	16.3863	0.83505	0.0:0.1314:0.8686:0.0	.	475;475;475	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	V	475;475;475;475;253;475	ENSP00000312222:A475V;ENSP00000362360:A475V;ENSP00000442290:A475V;ENSP00000443783:A475V;ENSP00000415498:A475V	ENSP00000312222:A475V	A	-	2	0	ZHX3	39265547	0.534000	0.26362	0.181000	0.23098	0.707000	0.40811	2.718000	0.47236	2.815000	0.96918	0.561000	0.74099	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	0	0	0	5	180	0	50	0	1.097081e-02	0	5	0	50	2		0	0	0	0	0	2	1	0.934761	5	176	0	50	2		0	0	0	0	50	2	-2.799494	1	1	121412	5	36	1	3	3	6	2.220022	1	0.550000	3.730000	0.725275	0.200000	6.000000e-02	1.000000	0.170000	0.381746	0.200000	0	1.200000e-01	1.000000
DIDO1	11083	broad.mit.edu	37	20	61538515	61538515	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr20:61538515G>T	ENST00000266070.4	-	5	1683	c.1358C>A	c.(1357-1359)cCg>cAg	p.P453Q	DIDO1_ENST00000395340.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.P453Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.P453Q|DIDO1_ENST00000370366.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.P453Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.P453Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.P453Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	p.P453L(1)		99	Breast(26;5.68e-08)				ACCGCATTTCGGAAGACTGGG	0.527000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000266070.4	0	1	hg19	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504488	0.04261	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18338	3.06;3.06;2.72;2.72;2.22;2.22;2.22;2.23;2.23	4.91	1.78	0.24846	.	0.173706	0.27622	N	0.018547	T	0.11793	0.0287	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.33494	0.239;0.414;0.203;0.128	B;B;B;B	0.28991	0.097;0.097;0.034;0.026	T	0.17258	-1.0375	10	0.36615	T	0.2	-8.571	8.456	0.32899	0.0737:0.0:0.6357:0.2906	.	453;453;453;453	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	Q	453	ENSP00000266070:P453Q;ENSP00000378752:P453Q;ENSP00000378749:P453Q;ENSP00000378744:P453Q;ENSP00000359397:P453Q;ENSP00000359394:P453Q;ENSP00000346692:P453Q;ENSP00000359391:P453Q;ENSP00000266071:P453Q	ENSP00000266070:P453Q	P	-	2	0	DIDO1	61008960	0.105000	0.21958	0.097000	0.21041	0.010000	0.07245	0.494000	0.22467	0.557000	0.29117	0.561000	0.74099	CCG		TCGA-YY-A8LH-01A-11D-A36O-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	0	0	9	846	0	240	0	3.417694e-01	0	105	0	240	2		0	0	0	0	0	2	1	0.993916	8	836	0	236	2		0	0	0	0	240	2	-1.887496	0	1	0	0		1	3	3	6	2.220022	1	0.550000	3.730000	0.725275	0.070000	1.000000e-02	1.000000	0.070000	0.287662	0.070000	0	3.000000e-02	1.000000
CCT8L2	150160	broad.mit.edu	37	22	17072527	17072527	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:17072527G>T	ENST00000359963.3	-	1	1173	c.914C>A	c.(913-915)aCa>aAa	p.T305K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2			67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)			GTCCGCCAGTGTGAGGGTCTC	0.517000																								0							SO:0001583	missense			ENST00000359963.3	0	1	hg19	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	6.540	0.467967	0.12402	.	.	ENSG00000198445	ENST00000359963	T	0.74526	-0.85	1.98	-1.43	0.08884	.	1.219940	0.06186	U	0.680487	T	0.64327	0.2588	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.14578	0.011	T	0.53954	-0.8365	10	0.87932	D	0	-0.7241	5.2737	0.15638	0.5034:0.0:0.4966:0.0	.	305	Q96SF2	TCPQM_HUMAN	K	305	ENSP00000353048:T305K	ENSP00000353048:T305K	T	-	2	0	CCT8L2	15452527	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.513000	0.06305	-0.295000	0.08960	-1.325000	0.01285	ACA		TCGA-YY-A8LH-01A-11D-A36O-08	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1	0	0	0	9	478	0	200		0	0	0	0	200	2		0	0	0	0	0	2	1	0.991874	9	441	0	204	2		0	0	0	0	200	2	-3.002451	1	1	0	0		1	0	3	3	1.756595	1	0.550000	3.730000	0.647059	0.080000	3.000000e-02	0.160000	0.090000	0.094718	0.080000	0	5.000000e-02	0.130000
DGCR2	9993	broad.mit.edu	37	22	19035956	19035956	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19035956G>A	ENST00000263196.7	-	7	1250	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.P294S	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2			18	Colorectal(54;0.0993)				GTCTCACCTGGGTCCAGACAC	0.587000																								0							SO:0001583	missense			ENST00000263196.7	1	1	hg19	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711467	0.68730	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97114	0.87;-4.25	5.8	5.8	0.92144	.	0.100398	0.64402	D	0.000001	D	0.95338	0.8487	L	0.46157	1.445	0.80722	D	1	P;P	0.41232	0.743;0.485	B;B	0.38755	0.281;0.146	D	0.94464	0.7679	10	0.34782	T	0.22	.	19.6734	0.95921	0.0:0.0:1.0:0.0	.	291;335	B7Z3T5;P98153	.;IDD_HUMAN	S	294;335	ENSP00000440062:P294S;ENSP00000263196:P335S	ENSP00000263196:P335S	P	-	1	0	DGCR2	17415956	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.485000	0.73625	2.735000	0.93741	0.655000	0.94253	CCA		TCGA-YY-A8LH-01A-11D-A36O-08	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	0	0	0	14	421	0	212	1	6.531106e-01	5	62	0	212	2		0	0	0	0	0	2	1	0.999734	13	415	0	210	2		0	0	0	0	212	2	-3.002296	1	1	0	0		1	0	3	3	1.489688	1	0.550000	3.730000	0.618240	0.150000	7.000000e-02	1.000000	0.130000	0.334407	0.150000	0	1.000000e-01	1.000000
GNB1L	54584	broad.mit.edu	37	22	19794255	19794255	+	Missense_Mutation	SNP	T	T	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:19794255T>A	ENST00000329517.6	-	6	679	c.443A>T	c.(442-444)aAg>aTg	p.K148M	GNB1L_ENST00000405009.1_Missense_Mutation_p.K148M|GNB1L_ENST00000403325.1_Missense_Mutation_p.K148M|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like			12	Colorectal(54;0.0993)				CACTGACGTCTTGGAGGGCAT	0.572000																								0							SO:0001583	missense			ENST00000329517.6	1	1	hg19	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640031	0.87760	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.40756	1.02;1.02;5.0	5.21	4.16	0.48862	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.128959	0.50627	U	0.000116	T	0.52273	0.1724	M	0.77103	2.36	0.49299	D	0.999779	D	0.56746	0.977	P	0.49887	0.625	T	0.57774	-0.7753	10	0.87932	D	0	-3.2795	11.353	0.49598	0.1361:0.0:0.0:0.8639	.	148	Q9BYB4	GNB1L_HUMAN	M	148	ENSP00000331313:K148M;ENSP00000385154:K148M;ENSP00000384626:K148M	ENSP00000331313:K148M	K	-	2	0	GNB1L	18174255	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.204000	0.65180	0.798000	0.33994	-0.333000	0.08304	AAG		TCGA-YY-A8LH-01A-11D-A36O-08	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1	0	0	1	5	70	0	30	0	7.843762e-01	1	41	0	30	2		0	0	0	0	0	2	1	0.935284	5	68	0	30	2		0	0	0	0	30	2	-9.538021	1	1	0	0		1	0	3	3	1.489688	1	0.550000	3.730000	0.618240	0.350000	1.200000e-01	1.000000	0.290000	0.478250	0.350000	0	2.100000e-01	1.000000
SGSM3	27352	broad.mit.edu	37	22	40797636	40797636	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr22:40797636C>G	ENST00000248929.9	+	3	236	c.47C>G	c.(46-48)aCt>aGt	p.T16S	SGSM3_ENST00000454798.2_Intron	NM_015705.4	NP_056520.2			small G protein signaling modulator 3			19					TCAGCCCTGACTCCGAGCATA	0.567000																								0							SO:0001583	missense			ENST00000248929.9	1	1	hg19	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814574	0.90790	.	.	ENSG00000100359	ENST00000248929	T	0.13901	2.55	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	M	0.71581	2.175	0.80722	D	1	P;P;P	0.48230	0.887;0.907;0.907	P;B;B	0.52217	0.693;0.437;0.437	T	0.01045	-1.1470	10	0.54805	T	0.06	.	19.6801	0.95958	0.0:1.0:0.0:0.0	.	16;16;16	Q96HU1-2;B9A6J5;Q96HU1	.;.;SGSM3_HUMAN	S	16	ENSP00000248929:T16S	ENSP00000248929:T16S	T	+	2	0	SGSM3	39127582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.973000	0.76116	2.749000	0.94314	0.655000	0.94253	ACT		TCGA-YY-A8LH-01A-11D-A36O-08	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	1	0	1	109	227	0	164	1	1	37	34	0	164	2		0	0	0	0	0	2	1	1.000000	106	224	0	164	2		0	0	0	0	164	2	-20.000000	1	1	0	0		1	0	3	3	1.503948	1	0.550000	3.730000	0.620013	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1.000000
TTN	7273	broad.mit.edu	37	2	179433869	179433869	+	Missense_Mutation	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179433869G>T	ENST00000591111.1	-	276	72291	c.72067C>A	c.(72067-72069)Cag>Aag	p.Q24023K	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q23096K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q16599K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q25664K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q16791K|TTN_ENST00000359218.5_Missense_Mutation_p.Q16724K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TCTTGGAGCTGATCGATTTTC	0.388000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	2.557	-0.302746	0.05495	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.93	3.1	0.35709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26048	0.0635	N	0.02266	-0.62	0.33359	D	0.572126	B;B;B;B	0.14012	0.009;0.009;0.009;0.002	B;B;B;B	0.14023	0.005;0.005;0.005;0.01	T	0.16808	-1.0390	9	0.87932	D	0	.	14.5358	0.67960	0.0589:0.212:0.7291:0.0	.	16599;16724;16791;24023	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23096;16599;16791;16724;16597	ENSP00000343764:Q23096K;ENSP00000434586:Q16599K;ENSP00000340554:Q16791K;ENSP00000352154:Q16724K	ENSP00000340554:Q16791K	Q	-	1	0	TTN	179142115	1.000000	0.71417	0.163000	0.22734	0.218000	0.24690	4.194000	0.58393	0.087000	0.17167	-0.810000	0.03169	CAG		TCGA-YY-A8LH-01A-11D-A36O-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	12	887	0	249		0	0	0	0	249	2		0	0	0	0	0	2	1	0.999088	11	884	0	248	2		0	0	0	0	249	2	-2.277787	0	1	0	0		1	2	2	4	2.110673	1	0.550000	3.730000	0.709677	0.070000	2.000000e-02	0.140000	0.080000	0.082724	0.070000	0	5.000000e-02	0.110000
TTN	7273	broad.mit.edu	37	2	179434141	179434141	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179434141C>A	ENST00000591111.1	-	276	72019	c.71795G>T	c.(71794-71796)cGa>cTa	p.R23932L	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23005L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16508L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25573L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16700L|TTN_ENST00000359218.5_Missense_Mutation_p.R16633L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACTATCATATCGGTTGACATT	0.423000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.92	2.679673	0.47886	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65913	0.2737	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.67114	-0.5752	9	0.87932	D	0	.	19.8644	0.96799	0.0:1.0:0.0:0.0	.	16508;16633;16700;23932	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23005;16508;16700;16633;16506	ENSP00000343764:R23005L;ENSP00000434586:R16508L;ENSP00000340554:R16700L;ENSP00000352154:R16633L	ENSP00000340554:R16700L	R	-	2	0	TTN	179142387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	5	347	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	0.934621	5	340	0	105	2		0	0	0	0	106	2	-2.924756	1	1	0	0		1	2	2	4	2.110673	1	0.550000	3.730000	0.709677	0.080000	1.000000e-02	0.180000	0.080000	0.095034	0.080000	0	4.000000e-02	0.130000
TTN	7273	broad.mit.edu	37	2	179440550	179440550	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:179440550C>T	ENST00000591111.1	-	276	65610	c.65386G>A	c.(65386-65388)Ggc>Agc	p.G21796S	RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20869S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14372S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G23437S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14564S|TTN_ENST00000359218.5_Missense_Mutation_p.G14497S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	p.G14372C(1)|p.G20867C(1)		1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGGACTGGGCCTGGCGTGTCC	0.493000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.49	3.138080	0.56936	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.67	5.67	0.87782	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70298	0.3208	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.72124	-0.4385	9	0.87932	D	0	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	14372;14497;14564;21796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20869;14372;14564;14497;14370	ENSP00000343764:G20869S;ENSP00000434586:G14372S;ENSP00000340554:G14564S;ENSP00000352154:G14497S	ENSP00000340554:G14564S	G	-	1	0	TTN	179148796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.685000	0.91497	0.655000	0.94253	GGC		TCGA-YY-A8LH-01A-11D-A36O-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	31	571	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1.000000	32	566	0	177	2		0	0	0	0	179	2	-5.622918	1	1	0	0		1	2	2	4	2.110673	1	0.550000	3.730000	0.709677	0.290000	1.900000e-01	0.400000	0.280000	0.298419	0.290000	0	2.300000e-01	0.350000
DNER	92737	broad.mit.edu	37	2	230377562	230377562	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:230377562C>T	ENST00000341772.4	-	6	1218	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing			63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)			ATACAGCTCGCGTTGTTTTGG	0.438000																								0							SO:0001583	missense			ENST00000341772.4	1	1	hg19	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281809	0.59758	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.94232	-3.38	5.76	5.76	0.90799	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.221819	0.45867	D	0.000328	D	0.95082	0.8407	M	0.77486	2.375	0.27064	N	0.963488	D	0.57899	0.981	P	0.50049	0.629	D	0.91199	0.4990	10	0.72032	D	0.01	.	18.7207	0.91692	0.0:1.0:0.0:0.0	.	362	Q8NFT8	DNER_HUMAN	T	362;90	ENSP00000345229:A362T	ENSP00000345229:A362T	A	-	1	0	DNER	230085806	0.921000	0.31238	0.021000	0.16686	0.046000	0.14306	5.864000	0.69575	2.724000	0.93272	0.591000	0.81541	GCG		TCGA-YY-A8LH-01A-11D-A36O-08	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	1	0	0	31	392	0	93	0	1.656908e-02	0	3	0	93	2		0	0	0	0	0	2	1	1.000000	31	391	0	93	2		0	0	0	0	93	2	-8.468063	1	1	121412	7	39	1	2	2	4	2.110673	1	0.550000	3.730000	0.709677	0.410000	2.800000e-01	0.570000	0.400000	0.423984	0.410000	0	3.400000e-01	0.490000
VAX2	25806	broad.mit.edu	37	2	71148347	71148347	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:71148347C>T	ENST00000234392.2	+	2	399	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	p.R123S(1)		7					GGAGTTCCAGCGCTGCCAGTA	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000234392.2	1	1	hg19	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967070	0.74131	.	.	ENSG00000116035	ENST00000234392	D	0.96365	-3.99	5.43	4.47	0.54385	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.059173	0.64402	D	0.000005	D	0.96632	0.8901	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	D	0.96374	0.9276	10	0.72032	D	0.01	-14.5215	12.2143	0.54398	0.2453:0.7547:0.0:0.0	.	123	Q9UIW0	VAX2_HUMAN	C	123	ENSP00000234392:R123C	ENSP00000234392:R123C	R	+	1	0	VAX2	71001855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.230000	0.42999	2.547000	0.85894	0.655000	0.94253	CGC		TCGA-YY-A8LH-01A-11D-A36O-08	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1	1	0	0	25	241	0	69	0	2.518388e-01	0	10	0	69	2		0	0	0	0	0	2	1	1.000000	24	241	0	66	2		0	0	0	0	69	2	-10.026350	1	0	0	0		1	2	2	4	2.110673	1	0.550000	3.730000	0.709677	0.530000	3.500000e-01	0.740000	0.520000	0.545981	0.530000	0	4.300000e-01	0.640000
SEMA4C	54910	broad.mit.edu	37	2	97527586	97527586	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr2:97527586C>T	ENST00000305476.5	-	13	1621	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C			17					CAGTCGGCCACGGGCAGCTGC	0.682000																								0							SO:0001583	missense			ENST00000305476.5	1	1	hg19	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.906697	0.33628	.	.	ENSG00000168758	ENST00000305476	T	0.36340	1.26	4.93	1.01	0.19927	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.261632	0.33075	N	0.005317	T	0.22085	0.0532	L	0.28649	0.875	0.20489	N	0.999892	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.14868	-1.0457	10	0.52906	T	0.07	.	5.9613	0.19301	0.2318:0.4117:0.3565:0.0	.	497;207	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	M	497	ENSP00000306844:V497M	ENSP00000306844:V497M	V	-	1	0	SEMA4C	96891313	1.000000	0.71417	0.960000	0.40013	0.749000	0.42624	0.770000	0.26618	0.274000	0.22072	-0.232000	0.12228	GTG		TCGA-YY-A8LH-01A-11D-A36O-08	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	1	0	0	7	120	0	36	1	9.181122e-01	8	71	0	36	2		0	0	0	0	0	2	1	0.980486	7	118	0	36	2		0	0	0	0	36	2	-11.131590	1	1	121222	1	19	1	2	2	4	2.110673	1	0.550000	3.730000	0.709677	0.320000	1.400000e-01	0.590000	0.320000	0.348430	0.320000	0	2.200000e-01	0.460000
SLC6A1	6529	broad.mit.edu	37	3	11058924	11058924	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:11058924C>T	ENST00000287766.4	+	3	448	c.27C>T	c.(25-27)gcC>gcT	p.A9A	SLC6A1_ENST00000536032.1_5'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1			26		Ovarian(110;0.0392)		Clobazam(DB00349)|Tiagabine(DB00906)	GCAAGGTGGCCGACGGGCAGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000287766.4	1	1	hg19	CCDS2603.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	0	0	0	7	150	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	0.980480	7	148	0	56	2		0	0	0	0	56	2	-3.269789	1	1	0	0		1	1	2	3	1.724728	1	0.550000	3.730000	0.645530	0.210000	9.000000e-02	0.430000	0.210000	0.238991	0.210000	0	1.400000e-01	0.310000
FBXO40	51725	broad.mit.edu	37	3	121340995	121340995	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:121340995G>A	ENST00000338040.4	+	3	1133	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40			46					AGCTGTGAGAGCAAGAACAAG	0.458000																								0							SO:0001583	missense			ENST00000338040.4	0	1	hg19	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041439	0.02013	.	.	ENSG00000163833	ENST00000338040	T	0.43688	0.94	5.64	2.3	0.28687	.	1.305700	0.04337	N	0.353342	T	0.22475	0.0542	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.19647	-1.0299	10	0.17832	T	0.49	-0.1509	4.5317	0.12008	0.3425:0.1562:0.5013:0.0	.	240	Q9UH90	FBX40_HUMAN	N	240	ENSP00000337510:S240N	ENSP00000337510:S240N	S	+	2	0	FBXO40	122823685	0.057000	0.20700	0.014000	0.15608	0.512000	0.34134	0.903000	0.28475	0.121000	0.18284	0.591000	0.81541	AGC		TCGA-YY-A8LH-01A-11D-A36O-08	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	0	0	0	4	134	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.888040	4	132	0	38	2		0	0	0	0	39	2	-6.571600	1	1	0	0		1	1	2	3	1.690063	1	0.550000	3.730000	0.636877	0.150000	4.000000e-02	1.000000	0.140000	0.247795	0.150000	0	9.000000e-02	0.280000
OSBPL11	114885	broad.mit.edu	37	3	125279224	125279224	+	Splice_Site	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:125279224C>A	ENST00000296220.5	-	8	1443	c.1154G>T	c.(1153-1155)aGa>aTa	p.R385I		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11			27					ATTACTTACTCTTGTTAAATC	0.383000																								0							SO:0001630	splice_region_variant			ENST00000296220.5	1	0	hg19	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977820	0.74360	.	.	ENSG00000144909	ENST00000296220	T	0.34072	1.38	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68796	0.3040	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.76451	-0.2954	10	0.87932	D	0	-26.5516	18.9367	0.92589	0.0:1.0:0.0:0.0	.	385	Q9BXB4	OSB11_HUMAN	I	385	ENSP00000296220:R385I	ENSP00000296220:R385I	R	-	2	0	OSBPL11	126761914	1.000000	0.71417	0.922000	0.36590	0.516000	0.34256	7.555000	0.82223	2.776000	0.95493	0.655000	0.94253	AGA		TCGA-YY-A8LH-01A-11D-A36O-08	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	1	0	0	32	375	0	135	0	7.970774e-02	0	6	0	135	2		0	0	0	0	0	2	1	1.000000	32	367	0	134	2		0	0	0	0	135	2	-2.879461	1	1	0	0		1	1	2	3	1.720110	1	0.550000	3.730000	0.643987	0.360000	2.500000e-01	1.000000	0.360000	0.388478	0.360000	0	3.000000e-01	0.440000
ABCC5	10057	broad.mit.edu	37	3	183663704	183663704	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:183663704C>A	ENST00000334444.6	-	24	3678	c.3438G>T	c.(3436-3438)acG>acT	p.T1146T	ABCC5_ENST00000265586.6_Silent_p.T1103T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5			62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)	Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCAGTCTGACCGTAAACTGGA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000334444.6	0	1	hg19	CCDS43176.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	0	0	0	8	837	0	278	0	5.348054e-02	0	34	0	278	2		0	0	0	0	0	2	1	0.988967	8	829	0	275	2		0	0	0	0	278	2	-1.730994	0	1	0	0		1	1	2	3	1.720110	1	0.550000	3.730000	0.643987	0.040000	0	1.000000	0.050000	0.075009	0.040000	0	2.000000e-02	0.070000
EHHADH	1962	broad.mit.edu	37	3	184910478	184910478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:184910478G>A	ENST00000231887.3	-	7	1783	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R474*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase			24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		TGGCCAAATCGTCCTAATTCA	0.473000																								0							SO:0001587	stop_gained			ENST00000231887.3	0	1	hg19	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	39	7.633440	0.98403	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	-0.0269	0.13928	.	0.058373	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3739	17.2992	0.87177	0.0:0.0:0.3145:0.6855	.	.	.	.	X	570;474	.	ENSP00000231887:R570X	R	-	1	2	EHHADH	186393172	1.000000	0.71417	0.893000	0.35052	0.999000	0.98932	1.576000	0.36504	0.050000	0.15949	0.655000	0.94253	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1	0	0	0	9	369	0	133	0	7.132423e-03	0	5	0	133	2		0	0	0	0	0	2	1	0.993616	9	359	0	132	2		0	0	0	0	133	2	-3.747530	1	1	121412	2	31	1	1	2	3	1.720110	1	0.550000	3.730000	0.643987	0.110000	4.000000e-02	1.000000	0.120000	0.146087	0.110000	0	7.000000e-02	0.160000
LRRFIP2	9209	broad.mit.edu	37	3	37154441	37154441	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:37154441T>C	ENST00000336686.4	-	8	483	c.403A>G	c.(403-405)Aag>Gag	p.K135E	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.K104E|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.K135E|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	p.0?(1)		22					GACCTCTTCTTCATTCCATGA	0.328000																								1	Whole gene deletion(1)						SO:0001583	missense			ENST00000336686.4	1	1	hg19	CCDS2664.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886492	0.51908	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.46063	0.88;0.88;1.21	5.31	5.31	0.75309	.	0.394787	0.25872	N	0.027745	T	0.30355	0.0762	N	0.14661	0.345	0.32566	N	0.530498	P;P	0.45348	0.762;0.856	B;B	0.42738	0.303;0.396	T	0.40794	-0.9544	10	0.40728	T	0.16	-25.7202	14.3757	0.66874	0.0:0.0:0.0:1.0	.	104;135	A8MXR0;Q9Y608	.;LRRF2_HUMAN	E	135;135;104	ENSP00000392217:K135E;ENSP00000338727:K135E;ENSP00000379705:K104E	ENSP00000338727:K135E	K	-	1	0	LRRFIP2	37129445	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.517000	0.67061	2.145000	0.66743	0.482000	0.46254	AAG		TCGA-YY-A8LH-01A-11D-A36O-08	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253335.3	1	0	1	202	535	0	219		0	0	0	0	219	2		0	0	0	0	0	2	1	1.000000	199	528	0	218	2		0	0	0	0	219	2	-20.000000	1	1	0	0		1	1	2	3	1.724728	1	0.550000	3.730000	0.645530	0.990000	9.900000e-01	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1.000000
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502			19					CTCTTCTTTTCGAAAACACTC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000296091.4	0	1	hg19	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		TCGA-YY-A8LH-01A-11D-A36O-08	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	0	0	0	9	714	0	246	0	1.226507e-03	0	4	0	246	2		0	0	0	0	0	2	1	0.994066	11	707	0	245	2		0	0	0	0	246	2	-2.319485	0	1	0	0		1	1	2	3	1.724728	1	0.550000	3.730000	0.645530	0.050000	1.000000e-02	0.120000	0.060000	0.073238	0.050000	0	3.000000e-02	0.090000
CXCR6	10663	broad.mit.edu	37	3	45988477	45988477	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr3:45988477C>A	ENST00000458629.1	+	1	1967	c.504C>A	c.(502-504)atC>atA	p.I168I	CXCR6_ENST00000457814.1_Silent_p.I168I|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Silent_p.I168I|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Silent_p.I168I			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6			8					CCCAAATTATCTATGGCAATG	0.502000													Esophageal Squamous(63;1005 1117 15521 45762 47089)											0							SO:0001819	synonymous_variant			ENST00000458629.1	0	1	hg19	CCDS2735.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1	0	0	0	8	360	0	132	0	6.521172e-04	0	2	0	132	2		0	0	0	0	0	2	1	0.988955	8	355	0	129	2		0	0	0	0	132	2	-3.126642	1	1	0	0		1	1	2	3	1.724728	1	0.550000	3.730000	0.645530	0.100000	4.000000e-02	0.210000	0.100000	0.120831	0.100000	0	6.000000e-02	0.150000
PCDH10	57575	broad.mit.edu	37	4	134073128	134073128	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:134073128C>T	ENST00000264360.5	+	1	2659	c.1833C>T	c.(1831-1833)ggC>ggT	p.G611G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					CGGACGACGGCGAGAACGCCC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000264360.5	0	1	hg19	CCDS34063.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	0	5	214	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	0.936747	5	212	0	72	2		0	0	0	0	74	2	-6.531740	1	1	0	0		1	2	2	4	2.111114	1	0.550000	3.730000	0.709677	0.130000	4.000000e-02	0.280000	0.120000	0.152737	0.130000	0	8.000000e-02	0.210000
ZFYVE28	57732	broad.mit.edu	37	4	2355738	2355738	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2355738G>A	ENST00000290974.2	-	2	441	c.102C>T	c.(100-102)gcC>gcT	p.A34A	ZFYVE28_ENST00000509171.1_Intron|ZFYVE28_ENST00000515312.1_5'UTR|ZFYVE28_ENST00000503000.1_Silent_p.A34A|ZFYVE28_ENST00000515169.1_5'UTR|ZFYVE28_ENST00000511071.1_Silent_p.A34A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28			31					CCAGCTCCGCGGCCACCTGGT	0.677000																								0							SO:0001819	synonymous_variant			ENST00000290974.2	0	1	hg19	CCDS33942.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	1	0	1	7	37	0	14	1	6.893196e-01	5	9	0	14	2		0	0	0	0	0	2	1	0.982226	7	36	0	14	2		0	0	0	0	14	2	-14.381540	1	1	121166	36	38	1	2	2	4	2.111114	1	0.550000	3.730000	0.709677	0.930000	4.400000e-01	1.000000	1.000000	0.860893	0.930000	1	6.500000e-01	1.000000
FAM193A	8603	broad.mit.edu	37	4	2691390	2691390	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:2691390A>T	ENST00000324666.5	+	12	1967	c.1616A>T	c.(1615-1617)aAg>aTg	p.K539M	FAM193A_ENST00000545951.1_Missense_Mutation_p.K539M|FAM193A_ENST00000382839.3_Missense_Mutation_p.K539M|FAM193A_ENST00000505311.1_Missense_Mutation_p.K539M|FAM193A_ENST00000502458.1_Missense_Mutation_p.K561M	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A			40					ATGAATGATAAGAACTGGAAT	0.353000																								0							SO:0001583	missense			ENST00000324666.5	0	1	hg19	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973078	0.74246	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.997;0.998;0.997;0.998	T	0.47724	-0.9095	10	0.72032	D	0.01	-39.2116	14.6205	0.68582	1.0:0.0:0.0:0.0	.	539;561;539;561;539	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	M	539;539;539;561;393	ENSP00000372290:K539M;ENSP00000324587:K539M;ENSP00000443617:K539M;ENSP00000427505:K561M;ENSP00000427260:K393M	ENSP00000324587:K539M	K	+	2	0	FAM193A	2661188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.217000	0.72218	2.048000	0.60808	0.456000	0.33151	AAG		TCGA-YY-A8LH-01A-11D-A36O-08	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	0	0	0	8	374	0	88	0	4.424851e-02	0	14	0	88	2		0	0	0	0	0	2	1	0.989201	8	371	0	88	2		0	0	0	0	88	2	-8.269270	1	1	0	0		1	2	2	4	2.111114	1	0.550000	3.730000	0.709677	0.120000	4.000000e-02	0.220000	0.120000	0.132008	0.120000	0	8.000000e-02	0.180000
UGDH	7358	broad.mit.edu	37	4	39512385	39512385	+	Missense_Mutation	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:39512385T>C	ENST00000316423.6	-	4	703	c.361A>G	c.(361-363)Aat>Gat	p.N121D	UGDH_ENST00000507089.1_Missense_Mutation_p.N24D|UGDH_ENST00000506179.1_Missense_Mutation_p.N121D|UGDH_ENST00000501493.2_Intron|UGDH_ENST00000515398.1_5'Flank	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase			27					TTGTACCCATTTGAGTTTTGC	0.433000																								0							SO:0001583	missense			ENST00000316423.6	1	1	hg19	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563464	0.45694	.	.	ENSG00000109814	ENST00000316423;ENST00000506179;ENST00000507089;ENST00000515021;ENST00000514106;ENST00000509391	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.95	-0.408	0.12381	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.233858	0.49916	D	0.000133	T	0.53238	0.1784	N	0.17922	0.545	0.37435	D	0.914199	B	0.02656	0.0	B	0.06405	0.002	T	0.41998	-0.9477	10	0.12430	T	0.62	0.1388	11.693	0.51527	0.0828:0.0:0.1465:0.7707	.	121	O60701	UGDH_HUMAN	D	121;121;24;134;121;121	ENSP00000319501:N121D;ENSP00000421757:N121D;ENSP00000426560:N24D;ENSP00000421954:N134D;ENSP00000425834:N121D;ENSP00000422603:N121D	ENSP00000319501:N121D	N	-	1	0	UGDH	39188780	0.994000	0.37717	0.980000	0.43619	0.998000	0.95712	1.356000	0.34079	0.011000	0.14865	0.528000	0.53228	AAT		TCGA-YY-A8LH-01A-11D-A36O-08	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	1	0	1	207	466	0	162	1	1	22	57	0	162	2		0	0	0	0	0	2	1	1.000000	205	463	0	162	2		0	0	0	0	162	2	-20.000000	1	1	121410	4	42	1	2	2	4	2.111114	1	0.550000	3.730000	0.709677	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
HERC5	51191	broad.mit.edu	37	4	89414249	89414249	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr4:89414249G>A	ENST00000264350.3	+	17	2373	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P	AC083829.1_ENST00000408152.2_RNA|HERC5_ENST00000508159.1_Silent_p.P378P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5			53		Hepatocellular(203;0.114)			TGATCCAGCCGGAATATGGGA	0.443000													Esophageal Squamous(39;887 1012 34045 50514)											0							SO:0001819	synonymous_variant			ENST00000264350.3	1	1	hg19	CCDS3630.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	0	0	0	28	338	1	83	0	5.338351e-01	1	48	1	83	4		0	0	0	0	0	2	1	0.975938	28	333	1	82	16		0	0	0	1	83	2	-2.665581	1	1	121412	3	37	1	2	2	4	2.111114	1	0.550000	3.730000	0.709677	0.430000	2.900000e-01	0.600000	0.440000	0.443684	0.430000	0	3.500000e-01	0.520000
CTNND2	1501	broad.mit.edu	37	5	11364949	11364949	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:11364949G>A	ENST00000304623.8	-	8	1420	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CTNND2_ENST00000503622.1_Missense_Mutation_p.R74W|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R320W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R411W|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2			136					TGCAGGGCCCGCAACTCTGGG	0.577000																								0							SO:0001583	missense			ENST00000304623.8	1	1	hg19	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504805	0.85176	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	D;D;D;T	0.83419	-1.6;-1.72;-1.6;-1.41	5.47	4.52	0.55395	.	0.000000	0.64402	D	0.000019	D	0.88097	0.6345	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.88375	0.2997	10	0.87932	D	0	-20.37	10.9741	0.47456	0.0:0.0:0.5842:0.4157	.	74;411	B4DRK2;Q9UQB3	.;CTND2_HUMAN	W	411;411;320;74;151	ENSP00000307134:R411W;ENSP00000352661:R411W;ENSP00000426510:R320W;ENSP00000426887:R74W	ENSP00000307134:R411W	R	-	1	2	CTNND2	11417949	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.008000	0.49544	2.581000	0.87130	0.655000	0.94253	CGG		TCGA-YY-A8LH-01A-11D-A36O-08	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	1	0	1	29	109	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1.000000	28	105	0	28	2		0	0	0	0	28	2	-3.771706	1	1	0	0		1	2	2	4	1.978537	0	0.550000	3.730000	0.692202	0.990000	8.000000e-01	1.000000	1.000000	0.979939	0.990000	1	9.600000e-01	1.000000
FBN2	2201	broad.mit.edu	37	5	127624885	127624885	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:127624885C>T	ENST00000508053.1	-	58	7545	c.6571G>A	c.(6571-6573)Gac>Aac	p.D2191N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2191N			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		AAAGATCCGTCGGTGTTGATA	0.413000																								0							SO:0001583	missense			ENST00000508053.1	1	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715887	0.89112	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92299	-3.01;-3.01	5.76	4.88	0.63580	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.090325	0.48286	D	0.000191	D	0.87087	0.6090	L	0.46885	1.475	0.51233	D	0.999917	P	0.51933	0.949	B	0.35470	0.203	D	0.86989	0.2109	10	0.34782	T	0.22	.	15.7202	0.77705	0.0:0.9314:0.0:0.0686	.	2191	P35556	FBN2_HUMAN	N	2191	ENSP00000262464:D2191N;ENSP00000424571:D2191N	ENSP00000262464:D2191N	D	-	1	0	FBN2	127652784	1.000000	0.71417	0.702000	0.30337	0.730000	0.41778	5.939000	0.70179	2.882000	0.98803	0.655000	0.94253	GAC		TCGA-YY-A8LH-01A-11D-A36O-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	0	22	504	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	0.999999	22	497	0	134	2		0	0	0	0	137	2	-3.292531	1	1	0	0		1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.230000	1.400000e-01	0.350000	0.240000	0.244462	0.230000	0	1.800000e-01	0.300000
TRPC7	57113	broad.mit.edu	37	5	135692940	135692940	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:135692940G>A	ENST00000513104.1	-	2	418	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TRPC7_ENST00000355180.3_Missense_Mutation_p.R46C|TRPC7_ENST00000426057.2_Missense_Mutation_p.R46C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7			46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		TCCAGGAAGCGCTCCTCCTCG	0.612000																								0							SO:0001583	missense			ENST00000513104.1	1	1	hg19	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.814083|4.814083	0.90790|0.90790	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.79247	.|-1.09;-1.25;-1.21	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85327|0.85327	0.5671|0.5671	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999993|0.999993	.|P;D;D;D	.|0.89917	.|0.916;1.0;0.999;0.999	.|B;D;P;P	.|0.65010	.|0.232;0.931;0.899;0.899	D|D	0.86290|0.86290	0.1673|0.1673	5|10	.|0.72032	.|D	.|0.01	-15.4883|-15.4883	18.9316|18.9316	0.92568|0.92568	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|46;46;46;46	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	V|C	45|46	.|ENSP00000347312:R46C;ENSP00000441628:R46C;ENSP00000426070:R46C	.|ENSP00000265193:R46C	A|R	-|-	2|1	0|0	TRPC7|TRPC7	135720839|135720839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.761000|7.761000	0.85260|0.85260	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCG|CGC		TCGA-YY-A8LH-01A-11D-A36O-08	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	0	0	0	22	636	0	184		0	0	0	0	184	2		0	0	0	0	0	2	1	0.999999	22	629	0	184	2		0	0	0	0	184	2	-3.276538	1	1	0	0		1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.180000	1.100000e-01	0.290000	0.200000	0.195600	0.180000	0	1.400000e-01	0.240000
PCDHA9	9752	broad.mit.edu	37	5	140229544	140229544	+	Silent	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:140229544C>G	ENST00000532602.1	+	1	2497	c.1464C>G	c.(1462-1464)gcC>gcG	p.A488A	PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.A488A|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9			59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGGAGAACGCCCTGGTGTCCT	0.667000													Melanoma(55;1800 1972 14909)											0							SO:0001819	synonymous_variant			ENST00000532602.1	1	1	hg19	CCDS54920.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	1	0	1	129	409	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1.000000	109	397	0	178	2		0	0	0	0	175	2	-4.882734	1	0	120800	8	41	1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.990000	9.900000e-01	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1.000000
TCERG1	10915	broad.mit.edu	37	5	145851118	145851118	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:145851118C>A	ENST00000296702.5	+	9	1618	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	TCERG1_ENST00000394421.2_Missense_Mutation_p.A506D	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1			46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		GTTGCTACTGCTCCTATTCCT	0.423000																								0							SO:0001583	missense			ENST00000296702.5	0	1	hg19	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095411	0.56075	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.44482	0.92;0.92	5.63	5.63	0.86233	.	0.094736	0.64402	D	0.000001	T	0.30978	0.0782	N	0.08118	0	0.31301	N	0.688266	P;P;B	0.42649	0.786;0.762;0.041	B;B;B	0.43082	0.407;0.242;0.003	T	0.15263	-1.0443	10	0.30078	T	0.28	-8.6494	19.6756	0.95930	0.0:1.0:0.0:0.0	.	506;506;527	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	D	527;506	ENSP00000296702:A527D;ENSP00000377943:A506D	ENSP00000296702:A527D	A	+	2	0	TCERG1	145831311	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	4.739000	0.62080	2.664000	0.90586	0.313000	0.20887	GCT		TCGA-YY-A8LH-01A-11D-A36O-08	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	0	0	0	5	526	0	105	0	3.286819e-02	0	24	0	105	2		0	0	0	0	0	2	1	0.933653	4	514	0	105	2		0	0	0	0	105	2	-4.486774	1	0	0	0		1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.050000	0	0.130000	0.040000	0.061583	0.050000	0	2.000000e-02	0.090000
GABRG2	2566	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:161580182C>T	ENST00000361925.4	+	9	1432	c.1212C>T	c.(1210-1212)taC>taT	p.Y404Y	GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000356592.3_Silent_p.Y412Y			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2			62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGAAGAGTACGGCTATGAGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000361925.4	0	1	hg19	CCDS4358.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1	0	0	0	6	318	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.963989	6	314	0	88	2		0	0	0	0	88	2	-2.841467	1	1	121410	17	44	1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.110000	3.000000e-02	0.230000	0.120000	0.120489	0.110000	0	6.000000e-02	0.170000
NKX2-5	1482	broad.mit.edu	37	5	172660081	172660081	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:172660081G>A	ENST00000329198.4	-	2	739	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5			12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		TGCTTGAAGCGCCGCTCCAGC	0.677000													Esophageal Squamous(72;810 1219 2387 13420 44943)											0							SO:0001583	missense			ENST00000329198.4	0	1	hg19	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038907	0.75617	.	.	ENSG00000183072	ENST00000329198	D	0.96136	-3.92	4.12	3.16	0.36331	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.52532	D	0.000063	D	0.96589	0.8887	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96214	0.9155	10	0.87932	D	0	.	11.6702	0.51396	0.0:0.0:0.7125:0.2875	.	156	P52952	NKX25_HUMAN	C	156	ENSP00000327758:R156C	ENSP00000327758:R156C	R	-	1	0	NKX2-5	172592687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.303000	0.51858	2.307000	0.77673	0.462000	0.41574	CGC		TCGA-YY-A8LH-01A-11D-A36O-08	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2	0	0	1	8	61	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	0.990252	7	61	0	24	2		0	0	0	0	24	2	-14.680890	1	1	0	0		1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.680000	3.300000e-01	1.000000	1.000000	0.694449	0.680000	0	4.800000e-01	0.920000
MRPS27	23107	broad.mit.edu	37	5	71533926	71533926	+	Missense_Mutation	SNP	A	A	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr5:71533926A>G	ENST00000261413.5	-	5	350	c.311T>C	c.(310-312)cTg>cCg	p.L104P	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L118P|MRPS27_ENST00000457646.4_Missense_Mutation_p.L48P|MRPS27_ENST00000515404.1_Missense_Mutation_p.L48P	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27			6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)			CCAGTTTCTCAGGTACCAGCA	0.413000																								0							SO:0001583	missense			ENST00000261413.5	0	1	hg19	CCDS4013.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.518352	0.85495	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	T	0.75657	0.3879	M	0.75264	2.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79317	-0.1853	10	0.87932	D	0	-18.2091	15.0979	0.72250	1.0:0.0:0.0:0.0	.	118;48;104	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	P	104;48;118;48;48	ENSP00000261413:L104P;ENSP00000428120:L48P;ENSP00000426941:L118P;ENSP00000426176:L48P;ENSP00000427237:L48P	ENSP00000261413:L104P	L	-	2	0	MRPS27	71569682	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.771000	0.91751	1.970000	0.57323	0.374000	0.22700	CTG		TCGA-YY-A8LH-01A-11D-A36O-08	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218560.2	0	0	0	6	664	0	157	1	6.069618e-02	2	35	0	157	2		0	0	0	0	0	2	1	0.963426	6	654	0	157	2		0	0	0	0	157	2	-2.999378	1	0	0	0		1	2	2	4	2.090344	0	0.550000	3.730000	0.708644	0.040000	0	0.110000	0.040000	0.056180	0.040000	0	2.000000e-02	0.090000
GRIK2	2898	broad.mit.edu	37	6	102266347	102266347	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266347A>T	ENST00000421544.1	+	9	1796	c.1306A>T	c.(1306-1308)Acc>Tcc	p.T436S	GRIK2_ENST00000369138.1_Missense_Mutation_p.T436S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436S|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTTGATTGTTACCACCATTTT	0.383000																								0							SO:0001583	missense			ENST00000421544.1	1	1	hg19	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541984	0.45280	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35973	2.79;2.79;2.79;2.79;2.79;2.79;1.28;2.79	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.28830	0.0715	L	0.61218	1.895	0.43226	D	0.995116	B;B;B	0.18863	0.031;0.002;0.007	B;B;B	0.27380	0.079;0.022;0.049	T	0.15723	-1.0427	10	0.72032	D	0.01	.	16.151	0.81622	1.0:0.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	S	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436S;ENSP00000405596:T436S;ENSP00000358134:T436S;ENSP00000358133:T436S;ENSP00000313276:T436S;ENSP00000358130:T387S;ENSP00000391988:T149S;ENSP00000407140:T35S	ENSP00000313276:T436S	T	+	1	0	GRIK2	102373040	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.412000	0.66392	2.221000	0.72209	0.523000	0.50628	ACC		TCGA-YY-A8LH-01A-11D-A36O-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	1	0	0	6	114	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	0.964399	6	112	0	38	2		0	0	0	0	38	2	-4.280973	1	1	0	0		1	0	2	2	1.454667	1	0.550000	3.730000	0.550000	0.190000	7.000000e-02	1.000000	0.180000	0.244449	0.190000	0	1.200000e-01	0.300000
GRIK2	2898	broad.mit.edu	37	6	102266348	102266348	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:102266348C>T	ENST00000421544.1	+	9	1797	c.1307C>T	c.(1306-1308)aCc>aTc	p.T436I	GRIK2_ENST00000369138.1_Missense_Mutation_p.T436I|GRIK2_ENST00000413795.1_Missense_Mutation_p.T436I|GRIK2_ENST00000318991.6_Missense_Mutation_p.T436I|GRIK2_ENST00000369137.3_Missense_Mutation_p.T436I|GRIK2_ENST00000369134.4_Missense_Mutation_p.T387I	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2			83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTGATTGTTACCACCATTTTG	0.383000																								0							SO:0001583	missense			ENST00000421544.1	1	1	hg19	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935787	0.73442	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610;ENST00000436862	T;T;T;T;T;T;T;T	0.35789	2.8;2.8;2.8;2.8;2.8;2.8;1.29;2.8	5.81	5.81	0.92471	Ionotropic glutamate receptor (1);	0.053012	0.85682	D	0.000000	T	0.56673	0.2001	M	0.77406	2.37	0.54753	D	0.999982	D;P;D	0.58970	0.984;0.932;0.984	D;P;P	0.65573	0.936;0.794;0.899	T	0.57665	-0.7772	10	0.59425	D	0.04	.	20.064	0.97700	0.0:1.0:0.0:0.0	.	436;436;436	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	I	436;436;436;436;436;436;387;398;149;35	ENSP00000397026:T436I;ENSP00000405596:T436I;ENSP00000358134:T436I;ENSP00000358133:T436I;ENSP00000313276:T436I;ENSP00000358130:T387I;ENSP00000391988:T149I;ENSP00000407140:T35I	ENSP00000313276:T436I	T	+	2	0	GRIK2	102373041	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.753000	0.94483	0.643000	0.83706	ACC		TCGA-YY-A8LH-01A-11D-A36O-08	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0	0	0	6	113	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.964395	6	111	0	39	2		0	0	0	0	39	2	-4.229092	1	1	0	0		1	0	2	2	1.454667	1	0.550000	3.730000	0.550000	0.190000	8.000000e-02	1.000000	0.180000	0.246070	0.190000	0	1.300000e-01	0.300000
LPA	4018	broad.mit.edu	37	6	161020546	161020546	+	Missense_Mutation	SNP	T	T	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:161020546T>G	ENST00000316300.5	-	20	3317	c.3273A>C	c.(3271-3273)gaA>gaC	p.E1091D	LPA_ENST00000447678.1_Missense_Mutation_p.E1091D			P08519	APOA_HUMAN	lipoprotein, Lp(a)			107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		Aminocaproic Acid(DB00513)	TTGGGTAGTTTTCTGGGGTCC	0.483000																								0							SO:0001583	missense			ENST00000316300.5	0	1	hg19	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	8.354	0.831520	0.16820	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.68025	-0.3;-0.3	2.48	-2.05	0.07321	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.31009	0.0783	L	0.41824	1.3	0.09310	N	1	B	0.15141	0.012	B	0.31751	0.135	T	0.39683	-0.9602	9	0.30078	T	0.28	.	2.9399	0.05826	0.0:0.3134:0.2443:0.4423	.	3599	P08519	APOA_HUMAN	D	1091	ENSP00000321334:E1091D;ENSP00000395608:E1091D	ENSP00000321334:E1091D	E	-	3	2	LPA	160940536	0.000000	0.05858	0.013000	0.15412	0.003000	0.03518	-0.976000	0.03786	-0.618000	0.05656	-0.782000	0.03352	GAA		TCGA-YY-A8LH-01A-11D-A36O-08	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	0	0	8	1211	0	638		0	0	0	0	638	2		0	0	0	0	0	2	1	0.988449	7	1188	0	626	2		0	0	0	0	638	2	-7.885989	1	0	0	0		1	0	2	2	1.454667	1	0.550000	3.730000	0.550000	0.010000	0	1.000000	0.020000	0.070741	0.010000	0	0	0.040000
PHIP	55023	broad.mit.edu	37	6	79711802	79711802	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr6:79711802G>A	ENST00000275034.4	-	17	1860	c.1693C>T	c.(1693-1695)Ctt>Ttt	p.L565F		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein			68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)			TCACGAATAAGTGGCCGATAA	0.358000																								0							SO:0001583	missense			ENST00000275034.4	1	1	hg19	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950918	0.73787	.	.	ENSG00000146247	ENST00000275034	T	0.61392	0.11	5.63	4.75	0.60458	.	0.088632	0.45867	D	0.000337	T	0.77890	0.4198	M	0.92604	3.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.82327	-0.0512	9	.	.	.	-16.7819	14.5837	0.68310	0.074:0.0:0.926:0.0	.	565;565	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	565	ENSP00000275034:L565F	.	L	-	1	0	PHIP	79768521	1.000000	0.71417	1.000000	0.80357	0.442000	0.32017	6.205000	0.72148	2.799000	0.96334	0.650000	0.86243	CTT		TCGA-YY-A8LH-01A-11D-A36O-08	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2	1	0	0	16	173	0	55	0	8.344241e-03	0	2	0	55	2		0	0	0	0	0	2	1	0.999946	16	173	0	55	2		0	0	0	0	55	2	-19.995470	1	1	0	0		1	0	2	2	1.454667	1	0.550000	3.730000	0.550000	0.310000	1.800000e-01	1.000000	0.300000	0.354078	0.310000	0	2.400000e-01	0.410000
GNB2	2783	broad.mit.edu	37	7	100276124	100276124	+	Missense_Mutation	SNP	A	A	T	rs147810006		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:100276124A>T	ENST00000303210.4	+	9	1285	c.803A>T	c.(802-804)aAc>aTc	p.N268I	GNB2_ENST00000393926.1_Missense_Mutation_p.N268I|GNB2_ENST00000427895.1_Missense_Mutation_p.N168I|GNB2_ENST00000436220.1_Missense_Mutation_p.N224I|GNB2_ENST00000393924.1_Missense_Mutation_p.N268I|GNB2_ENST00000424361.1_Missense_Mutation_p.N224I|GNB2_ENST00000419828.1_Missense_Mutation_p.N168I	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2			7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)			TCCCATGACAACATCATCTGT	0.607000																								0							SO:0001583	missense			ENST00000303210.4	1	1	hg19	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.125242	0.77436	0.0	2.33E-4	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;D;D;D;D;T;T	0.82619	5.0;-1.63;-1.63;-1.63;-1.63;5.0;5.0	5.67	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85952	0.5817	M	0.75264	2.295	0.58432	D	0.999996	B	0.32409	0.37	P	0.44732	0.459	D	0.86865	0.2032	10	0.72032	D	0.01	-11.881	10.667	0.45736	0.8397:0.1603:0.0:0.0	.	268	P62879	GBB2_HUMAN	I	268;224;224;168;168;268;268	ENSP00000305260:N268I;ENSP00000401873:N224I;ENSP00000389391:N224I;ENSP00000390543:N168I;ENSP00000400286:N168I;ENSP00000377503:N268I;ENSP00000377501:N268I	ENSP00000305260:N268I	N	+	2	0	GNB2	100114060	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.846000	0.39289	2.174000	0.68829	0.454000	0.30748	AAC		TCGA-YY-A8LH-01A-11D-A36O-08	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	1	0	1	43	144	0	48	1	1	291	857	0	48	2		0	0	0	0	0	2	1	1.000000	41	143	0	47	2		0	0	0	0	48	2	-20.000000	1	1	121412	2	38	1	2	2	4	2.097417	0	0.550000	3.730000	0.709677	0.990000	9.700000e-01	1.000000	1.000000	0.998207	0.990000	1	9.900000e-01	1.000000
NDUFA4	4697	broad.mit.edu	37	7	10979646	10979646	+	Silent	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:10979646C>A	ENST00000339600.5	-	1	237	c.39G>T	c.(37-39)ccG>ccT	p.P13P	RP5-855F16.1_ENST00000604183.1_lincRNA|NDUFA4_ENST00000492822.1_5'UTR	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated			3					AACTTACGCTCGGATGCTTCT	0.567000																								0							SO:0001819	synonymous_variant			ENST00000339600.5	0	1	hg19	CCDS5357.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	0	0	0	11	915	0	156	0	9.999990e-01	1	2601	0	156	2		0	0	0	0	0	2	1	0.998195	11	903	0	153	2		0	0	0	0	156	2	-2.028848	0	1	0	0		1	2	5	7	3.090611	1	0.550000	3.730000	0.801325	0.100000	1.000000e-02	1.000000	0.130000	0.162449	0.100000	0	5.000000e-02	0.160000
SSPO	23145	broad.mit.edu	37	7	149503953	149503953	+	RNA	SNP	G	G	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:149503953G>T	ENST00000378016.2	+	0	8777							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		GCCCCCGGCTGCACCTGCCCC	0.657000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-YY-A8LH-01A-11D-A36O-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	20	74	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.999997	18	74	0	20	2		0	0	0	0	21	2	-20.000000	1	1	0	0		1	2	2	4	2.097417	0	0.550000	3.730000	0.709677	0.990000	7.900000e-01	1.000000	1.000000	0.981714	0.990000	1	9.800000e-01	1.000000
HDAC9	9734	broad.mit.edu	37	7	18767353	18767353	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:18767353C>A	ENST00000432645.2	+	12	1873	c.1873C>A	c.(1873-1875)Cgc>Agc	p.R625S	HDAC9_ENST00000441542.2_Missense_Mutation_p.R628S|HDAC9_ENST00000401921.1_Missense_Mutation_p.R584S|HDAC9_ENST00000406451.4_Missense_Mutation_p.R625S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	AGCAATGGACCGCCCCCTCCA	0.527000																								0							SO:0001583	missense			ENST00000432645.2	0	1	hg19	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.276989	0.10403	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.57107	0.43;0.42;0.42;0.43	4.87	1.44	0.22558	.	0.387462	0.22358	N	0.061105	T	0.35537	0.0935	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.001;0.01;0.034;0.01;0.02;0.01;0.039	B;B;B;B;B;B;B	0.17979	0.003;0.01;0.018;0.018;0.008;0.018;0.02	T	0.10337	-1.0634	10	0.09338	T	0.73	-24.6513	9.38	0.38306	0.0:0.7311:0.0:0.2689	.	625;537;584;628;625;625;603	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	S	625;584;625;628;537	ENSP00000384657:R625S;ENSP00000383912:R584S;ENSP00000410337:R625S;ENSP00000408617:R628S	ENSP00000339165:R537S	R	+	1	0	HDAC9	18733878	1.000000	0.71417	0.829000	0.32907	0.991000	0.79684	1.096000	0.30976	0.150000	0.19136	0.557000	0.71058	CGC		TCGA-YY-A8LH-01A-11D-A36O-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	0	0	0	5	135	0	23	0	0	0	1	0	23	2		0	0	0	0	0	2	1	0.938689	5	135	0	22	2		0	0	0	0	23	2	-3.346692	1	1	0	0		1	2	5	7	3.090611	1	0.550000	3.730000	0.801325	0.330000	1.100000e-01	1.000000	0.270000	0.389371	0.330000	0	2.000000e-01	0.530000
FAM188B	84182	broad.mit.edu	37	7	30825421	30825421	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:30825421C>A	ENST00000265299.6	+	4	553	c.476C>A	c.(475-477)cCg>cAg	p.P159Q	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B			29					AAAAGGCCCCCGCACAAAAGT	0.448000																								0							SO:0001583	missense			ENST00000265299.6	0	1	hg19	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251521	0.05867	.	.	ENSG00000106125	ENST00000265299	T	0.23552	1.9	5.19	2.32	0.28847	.	0.790451	0.11983	N	0.510580	T	0.16642	0.0400	L	0.41236	1.265	0.09310	N	1	P	0.34955	0.477	B	0.24701	0.055	T	0.19943	-1.0290	10	0.87932	D	0	-7.9428	4.8572	0.13564	0.1701:0.6496:0.0:0.1803	.	159	Q4G0A6	F188B_HUMAN	Q	159	ENSP00000265299:P159Q	ENSP00000265299:P159Q	P	+	2	0	FAM188B	30791946	0.001000	0.12720	0.104000	0.21259	0.172000	0.22775	1.070000	0.30653	0.762000	0.33152	0.650000	0.86243	CCG		TCGA-YY-A8LH-01A-11D-A36O-08	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	0	0	0	9	683	0	100	0	6.828432e-02	0	29	0	100	2		0	0	0	0	0	2	1	0.993943	9	675	0	99	2		0	0	0	0	100	2	-2.063888	0	1	0	0		1	2	5	7	3.090611	1	0.550000	3.730000	0.801325	0.110000	2.000000e-02	1.000000	0.130000	0.175118	0.110000	0	6.000000e-02	0.180000
GLI3	2737	broad.mit.edu	37	7	42116379	42116379	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:42116379C>T	ENST00000395925.3	-	4	529	c.445G>A	c.(445-447)Gat>Aat	p.D149N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3			112					GGAGATGGATCGTAATGGTAA	0.433000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly															0							SO:0001583	missense	Familial Cancer Database	;	ENST00000395925.3	0	1	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070585	0.93950	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T;T	0.69561	-0.41;-0.41	5.65	5.65	0.86999	.	0.099090	0.64402	D	0.000003	T	0.72510	0.3469	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	P	0.57960	0.83	T	0.74411	-0.3674	10	0.72032	D	0.01	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	149	P10071	GLI3_HUMAN	N	149	ENSP00000379258:D149N;ENSP00000406135:D149N	ENSP00000379258:D149N	D	-	1	0	GLI3	42082904	1.000000	0.71417	0.966000	0.40874	0.990000	0.78478	7.252000	0.78309	2.817000	0.96982	0.563000	0.77884	GAT		TCGA-YY-A8LH-01A-11D-A36O-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	0	0	8	360	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	0.989319	8	358	0	46	2		0	0	0	0	47	2	-2.849615	1	1	0	0		1	2	5	7	3.090611	1	0.550000	3.730000	0.801325	0.190000	7.000000e-02	1.000000	0.200000	0.251803	0.190000	0	1.200000e-01	0.290000
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:48317894C>T	ENST00000435803.1	+	18	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13			270					TTATTTAATGCCCTTCTCAGG	0.308000																								0							SO:0001583	missense			ENST00000435803.1	1	1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	4.546	0.101394	0.08731	.	.	ENSG00000179869	ENST00000435803	T	0.55760	0.5	4.75	1.32	0.21799	.	1.533400	0.04221	N	0.333578	T	0.38480	0.1042	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34675	-0.9819	10	0.72032	D	0.01	.	2.659	0.05020	0.2212:0.501:0.0:0.2778	.	2368	Q86UQ4	ABCAD_HUMAN	V	2368	ENSP00000411096:A2368V	ENSP00000411096:A2368V	A	+	2	0	ABCA13	48288440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.498000	0.06420	0.517000	0.28361	0.561000	0.74099	GCC		TCGA-YY-A8LH-01A-11D-A36O-08	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	1	0	1	28	154	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1.000000	28	150	0	23	2		0	0	0	0	23	2	-20.000000	1	1	0	0		1	2	5	7	3.105492	1	0.550000	3.730000	0.802523	0.990000	8.900000e-01	1.000000	1.000000	0.993708	0.990000	1	9.900000e-01	1.000000
KCTD7	154881	broad.mit.edu	37	7	66103879	66103879	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:66103879G>A	ENST00000275532.3	+	4	714	c.530G>A	c.(529-531)cGt>cAt	p.R177H	KCTD7_ENST00000443322.1_Missense_Mutation_p.R177H	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	p.R177H(1)		16					GCCCGGCTGCGTGCGGTCCAG	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000275532.3	0	1	hg19	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320885	0.95682	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.79033	-1.23;-1.23	5.36	5.36	0.76844	.	.	.	.	.	T	0.79411	0.4441	L	0.43152	1.355	0.80722	D	1	D	0.67145	0.996	P	0.51170	0.661	T	0.80476	-0.1366	9	0.52906	T	0.07	.	18.4294	0.90620	0.0:0.0:1.0:0.0	.	177	Q96MP8	KCTD7_HUMAN	H	177	ENSP00000275532:R177H;ENSP00000411624:R177H	ENSP00000275532:R177H	R	+	2	0	KCTD7	65741314	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	9.097000	0.94193	2.675000	0.91044	0.655000	0.94253	CGT		TCGA-YY-A8LH-01A-11D-A36O-08	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	0	0	0	5	250	0	82	0	5.908465e-03	0	5	0	82	2		0	0	0	0	0	2	1	0.936200	5	248	0	81	2		0	0	0	0	82	2	-3.977127	1	1	0	0		1	2	2	4	2.097417	0	0.550000	3.730000	0.709677	0.110000	3.000000e-02	0.250000	0.120000	0.131341	0.110000	0	7.000000e-02	0.180000
SAMD9L	219285	broad.mit.edu	37	7	92764937	92764937	+	Silent	SNP	T	T	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:92764937T>C	ENST00000318238.4	-	5	1564	c.348A>G	c.(346-348)tcA>tcG	p.S116S	SAMD9L_ENST00000437805.1_Silent_p.S116S|SAMD9L_ENST00000411955.1_Silent_p.S116S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like			88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)		CAATATTAGATGACATTGAAT	0.323000																								0							SO:0001819	synonymous_variant			ENST00000318238.4	1	1	hg19	CCDS34681.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	1	0	1	131	286	0	98	1	9.605059e-01	6	8	0	98	2		0	0	0	0	0	2	1	1.000000	130	283	0	98	2		0	0	0	0	98	2	-20.000000	1	1	0	0		1	2	2	4	2.097417	0	0.550000	3.730000	0.709677	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
COL1A2	1278	broad.mit.edu	37	7	94039063	94039063	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr7:94039063G>A	ENST00000297268.6	+	19	1436	c.965G>A	c.(964-966)gGc>gAc	p.G322D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2		COL1A2/PLAG1(3)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)	Collagenase(DB00048)	GGGGCTCCCGGCCTCCCTGGA	0.577000										HNSCC(75;0.22)														0							SO:0001583	missense			ENST00000297268.6	1	1	hg19	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335985	0.81801	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99619	-6.28	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97235	0.9887	10	0.87932	D	0	.	19.966	0.97266	0.0:0.0:1.0:0.0	.	322	P08123	CO1A2_HUMAN	D	322;323	ENSP00000297268:G322D	ENSP00000297268:G322D	G	+	2	0	COL1A2	93876999	1.000000	0.71417	0.985000	0.45067	0.772000	0.43724	9.439000	0.97543	2.802000	0.96397	0.655000	0.94253	GGC		TCGA-YY-A8LH-01A-11D-A36O-08	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	1	0	0	25	302	0	74	0	9.999997e-01	0	311	0	74	2		0	0	0	0	0	2	1	1.000000	26	301	0	74	2		0	0	0	0	74	2	-8.187247	1	1	0	0		1	2	2	4	2.097417	0	0.550000	3.730000	0.709677	0.430000	2.800000e-01	0.610000	0.440000	0.444880	0.430000	0	3.500000e-01	0.530000
USP17L2	377630	broad.mit.edu	37	8	11995011	11995011	+	Nonsense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:11995011A>T	ENST00000333796.3	-	1	1575	c.1259T>A	c.(1258-1260)tTg>tAg	p.L420*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2			29					GCGCTCGTCCAACTCGGGTGC	0.567000																								0							SO:0001587	stop_gained			ENST00000333796.3	0	1	hg19	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	A	19.49	3.836544	0.71373	.	.	ENSG00000223443	ENST00000333796	.	.	.	0.36	-0.721	0.11189	.	0.944627	0.08527	U	0.932543	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	.	.	.	.	.	.	.	X	420	.	ENSP00000333329:L420X	L	-	2	0	USP17L2	12032420	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.011000	0.12721	-0.718000	0.04949	-0.731000	0.03576	TTG		TCGA-YY-A8LH-01A-11D-A36O-08	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	1	0	0	23	409	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	0.999999	23	385	0	121	2		0	0	0	0	121	2	-19.999990	1	1	0	0		1	3	3	6	2.162354	1	0.550000	3.730000	0.717691	0.330000	2.000000e-01	1.000000	0.310000	0.483988	0.330000	0	2.600000e-01	1.000000
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1			67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)			Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642000									Familial Hyperaldosteronism type I															0		GRCh37	HM972176	CYP11B1	M		SO:0001583	missense	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	ENST00000292427.4	1	1	hg19	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		TCGA-YY-A8LH-01A-11D-A36O-08	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2	1	0	0	44	524	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1.000000	43	516	0	176	2		0	0	0	0	178	2	-10.672130	1	1	121408	12	43	1	3	3	6	2.162354	1	0.550000	3.730000	0.717691	0.470000	3.300000e-01	1.000000	0.460000	0.588020	0.470000	0	3.900000e-01	1.000000
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					CGCTCACCTCGCTGCAGCTGC	0.687000																								0		GRCh37	CM050309	PLEC	M	rs137853161	SO:0001587	stop_gained			ENST00000322810.4	0	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	1	0	0	13	209	0	50	1	9.998292e-01	20	233	0	50	2		0	0	0	0	0	2	1	0.999555	14	206	0	47	2		0	0	0	0	50	2	-16.106850	1	1	0	0		1	3	3	6	2.162354	1	0.550000	3.730000	0.717691	0.380000	2.000000e-01	1.000000	0.330000	0.515406	0.380000	0	2.700000e-01	1.000000
BMP1	649	broad.mit.edu	37	8	22054897	22054897	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:22054897G>A	ENST00000306385.5	+	15	2741	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	BMP1_ENST00000397816.3_Missense_Mutation_p.V691M|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.V691M	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					CGACAACACCGTGTCCAAAAA	0.567000																								0							SO:0001583	missense			ENST00000306385.5	1	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895680	0.91962	0.0	1.16E-4	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349	T;T;T	0.30981	1.51;1.51;1.51	5.29	5.29	0.74685	CUB (5);	0.000000	0.34853	U	0.003625	T	0.58836	0.2150	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.993	T	0.63346	-0.6658	10	0.72032	D	0.01	.	17.6986	0.88289	0.0:0.0:1.0:0.0	.	691;764;691;691	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	M	691	ENSP00000305714:V691M;ENSP00000380917:V691M;ENSP00000306121:V691M	ENSP00000306121:V691M	V	+	1	0	BMP1	22110842	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.451000	0.82905	0.563000	0.77884	GTG		TCGA-YY-A8LH-01A-11D-A36O-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	0	0	22	676	0	213	0	7.014472e-01	1	74	0	213	2		0	0	0	0	0	2	1	0.999998	22	660	0	210	2		0	0	0	0	213	2	-3.047490	1	1	121412	4	42	1	3	3	6	2.162354	1	0.550000	3.730000	0.717691	0.200000	1.100000e-01	1.000000	0.170000	0.385379	0.200000	0	1.500000e-01	1.000000
OPRK1	4986	broad.mit.edu	37	8	54142191	54142191	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr8:54142191C>T	ENST00000265572.3	-	4	1106	c.809G>A	c.(808-810)cGt>cAt	p.R270H	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.R270H|OPRK1_ENST00000524278.1_Missense_Mutation_p.R181H	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1			43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)		Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GGTGATCCTACGCAGGTTGCG	0.572000																								0							SO:0001583	missense			ENST00000265572.3	0	1	hg19	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017222	0.54576	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.73681	-0.77;-0.77;-0.77	5.8	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.047781	0.85682	D	0.000000	D	0.87176	0.6112	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89336	0.3650	10	0.87932	D	0	.	16.2563	0.82519	0.1338:0.8662:0.0:0.0	.	270	P41145	OPRK_HUMAN	H	270;181;270;256	ENSP00000265572:R270H;ENSP00000430923:R181H;ENSP00000429706:R270H	ENSP00000265572:R270H	R	-	2	0	OPRK1	54304744	1.000000	0.71417	0.055000	0.19348	0.004000	0.04260	7.818000	0.86416	1.433000	0.47394	-0.188000	0.12872	CGT		TCGA-YY-A8LH-01A-11D-A36O-08	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1	0	0	0	7	179	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.979295	6	175	0	51	2		0	0	0	0	52	2	-9.099499	1	1	121412	2	35	1	3	3	6	2.162354	1	0.550000	3.730000	0.717691	0.260000	1.000000e-01	1.000000	0.210000	0.427731	0.260000	0	1.600000e-01	1.000000
OR2K2	26248	broad.mit.edu	37	9	114090184	114090184	+	Missense_Mutation	SNP	G	G	A	rs137871340	by1000genomes	TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:114090184G>A	ENST00000374428.1	-	1	616	c.617C>T	c.(616-618)aCg>aTg	p.T206M	OR2K2_ENST00000302681.1_Missense_Mutation_p.T177M			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2			20					AATTTCACACGTGAAGTGATC	0.517000																								0							SO:0001583	missense			ENST00000374428.1	1	1	hg19		3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	7.211	0.595400	0.13875	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00084	8.75;8.75	4.92	1.0	0.19881	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	U	0.000834	T	0.00144	0.0004	L	0.31926	0.97	0.18873	N	0.999982	D	0.89917	1.0	D	0.70716	0.97	T	0.52975	-0.8503	10	0.62326	D	0.03	.	3.5372	0.07798	0.2438:0.0:0.4545:0.3016	.	206	Q8NGT1	OR2K2_HUMAN	M	177;206	ENSP00000305055:T177M;ENSP00000363550:T206M	ENSP00000305055:T177M	T	-	2	0	OR2K2	113130005	0.000000	0.05858	0.023000	0.16930	0.086000	0.17979	0.148000	0.16224	0.096000	0.17463	-0.194000	0.12790	ACG		TCGA-YY-A8LH-01A-11D-A36O-08	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	9	207	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	0.993885	9	202	0	84	2		0	0	0	0	84	2	-3.277497	1	1	121410	35	46	1	1	2	3	1.623441	1	0.550000	3.730000	0.626943	0.200000	9.000000e-02	1.000000	0.190000	0.344041	0.200000	0	1.400000e-01	1.000000
ASS1	445	broad.mit.edu	37	9	133355188	133355188	+	Splice_Site	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:133355188G>A	ENST00000372394.1	+	11	1254		c.e11+1		ASS1_ENST00000493984.2_Splice_Site|ASS1_ENST00000372393.3_Splice_Site|ASS1_ENST00000352480.5_Splice_Site			P00966	ASSY_HUMAN	argininosuccinate synthase 1			17				Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ACGAAGTCGCGTGAGTGTCTG	0.617000																								0							SO:0001630	splice_region_variant			ENST00000372394.1	1	1	hg19	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686809	0.14973	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0774	0.86590	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASS1	132345009	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	8.569000	0.90744	2.270000	0.75569	0.467000	0.42956	.		TCGA-YY-A8LH-01A-11D-A36O-08	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	1	0	0	16	179	0	89	1	4.325148e-01	3	14	0	89	2		0	0	0	0	0	2	1	0.946225	15	177	1	88	9		0	0	0	0	89	2	-19.980240	1	1	0	0		1	1	2	3	1.664950	1	0.550000	3.730000	0.635258	0.390000	2.200000e-01	1.000000	0.370000	0.458941	0.390000	0	2.900000e-01	0.550000
C9orf72	203228	broad.mit.edu	37	9	27567059	27567059	+	Missense_Mutation	SNP	A	A	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chr9:27567059A>T	ENST00000380003.3	-	2	123	c.60T>A	c.(58-60)agT>agA	p.S20R	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.S20R	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72			23		all_neural(11;7.57e-10)			GTGATTTGCCACTTAAAGCAA	0.458000																								0							SO:0001583	missense			ENST00000380003.3	0	1	hg19	CCDS6522.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.242614	0.39598	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.44083	0.93;0.93;0.93	5.99	5.99	0.97316	.	0.225686	0.53938	D	0.000046	T	0.22859	0.0552	N	0.08118	0	0.33621	D	0.604779	B;B	0.16603	0.018;0.011	B;B	0.18871	0.023;0.003	T	0.32587	-0.9901	9	.	.	.	.	11.5134	0.50507	0.931:0.0:0.069:0.0	.	20;20	Q96LT7-2;Q96LT7	.;CI072_HUMAN	R	20	ENSP00000369339:S20R;ENSP00000369333:S20R;ENSP00000369331:S20R	.	S	-	3	2	C9orf72	27557059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.511000	0.35801	2.291000	0.77112	0.533000	0.62120	AGT		TCGA-YY-A8LH-01A-11D-A36O-08	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051969.1	0	0	0	5	300	0	97	0	1.409316e-02	0	9	0	97	2		0	0	0	0	0	2	0	0.933018	0	297	0	97	2		0	0	0	0	97	2	-5.987158	1	0	0	0		1	1	2	3	1.623441	1	0.550000	3.730000	0.626943	0.080000	2.000000e-02	1.000000	0.080000	0.249547	0.080000	0	4.000000e-02	1.000000
ACSL4	2182	broad.mit.edu	37	X	108906514	108906514	+	Missense_Mutation	SNP	T	T	C	rs148996116		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:108906514T>C	ENST00000469796.2	-	13	2027	c.1631A>G	c.(1630-1632)gAt>gGt	p.D544G	ACSL4_ENST00000348502.6_Missense_Mutation_p.D503G|ACSL4_ENST00000340800.2_Missense_Mutation_p.D544G			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4			22				Icosapent(DB00159)|Rosiglitazone(DB00412)	TCCATTTTCATCCACAGAATA	0.378000													Pancreas(188;358 2127 38547 41466 45492)											0							SO:0001583	missense			ENST00000469796.2	0	1	hg19	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.608081	0.87258	2.61E-4	0.0	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.13420	2.59;2.59;2.59	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.64525	-0.6387	10	0.87932	D	0	-21.9098	14.6742	0.68967	0.0:0.0:0.0:1.0	.	544	O60488	ACSL4_HUMAN	G	503;544;544	ENSP00000262835:D503G;ENSP00000419171:D544G;ENSP00000339787:D544G	ENSP00000339787:D544G	D	-	2	0	ACSL4	108793170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.035000	0.88872	1.846000	0.53633	0.486000	0.48141	GAT		TCGA-YY-A8LH-01A-11D-A36O-08	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	0	0	0	18	1304	0	351	0	1.005664e-01	0	37	0	351	2		0	0	0	0	0	2	1	0.999980	18	1295	0	349	2		0	0	0	0	351	2	-3.142737	1	1	121410	7	46	1	0	1	1			0.550000	3.730000	0.550000	0.040000	2.000000e-02	0.080000	0.050000	0.051789	0.040000	0	3.000000e-02	0.070000
ARHGAP36	158763	broad.mit.edu	37	X	130215846	130215846	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:130215846C>A	ENST00000276211.5	+	2	552	c.207C>A	c.(205-207)caC>caA	p.H69Q	ARHGAP36_ENST00000370921.1_5'Flank|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.H57Q	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36			71					CTGCTTACCACGAACTCGTGG	0.577000																								0							SO:0001583	missense			ENST00000276211.5	1	1	hg19	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436770	0.25900	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432	T;T;T	0.09255	3.0;3.0;3.01	4.36	-2.17	0.07059	.	0.475884	0.18258	N	0.146730	T	0.04363	0.0120	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.44050	-0.9353	10	0.22706	T	0.39	.	1.0036	0.01482	0.4372:0.2288:0.1417:0.1922	.	38;57;69	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	Q	69;57;21;38	ENSP00000276211:H69Q;ENSP00000359960:H57Q;ENSP00000408515:H38Q	ENSP00000276211:H69Q	H	+	3	2	ARHGAP36	130043527	0.778000	0.28640	0.937000	0.37676	0.976000	0.68499	-0.888000	0.04148	-0.670000	0.05282	-0.268000	0.10319	CAC		TCGA-YY-A8LH-01A-11D-A36O-08	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	1	0	0	40	736	0	205	0	0	0	1	0	205	2		0	0	0	0	0	2	1	1.000000	40	723	0	203	2		0	0	0	0	205	2	-6.349091	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.180000	1.300000e-01	0.250000	0.180000	0.191416	0.180000	0	1.500000e-01	0.220000
GPC4	2239	broad.mit.edu	37	X	132445300	132445300	+	Missense_Mutation	SNP	C	C	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:132445300C>A	ENST00000370828.3	-	4	1387	c.863G>T	c.(862-864)tGg>tTg	p.W288L	GPC4_ENST00000535467.1_Missense_Mutation_p.W218L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4			28	Acute lymphoblastic leukemia(192;0.000127)				GAAATTGTTCCATTCAAAATC	0.443000																								0							SO:0001583	missense			ENST00000370828.3	1	1	hg19	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763050	0.89932	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.80566	-1.39;-1.39	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	M	0.90082	3.085	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	D	0.93066	0.6478	10	0.87932	D	0	-19.8545	17.5641	0.87914	0.0:1.0:0.0:0.0	.	288	O75487	GPC4_HUMAN	L	288;282;218	ENSP00000359864:W288L;ENSP00000444959:W218L	ENSP00000359864:W288L	W	-	2	0	GPC4	132272966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.754000	0.85163	2.363000	0.80096	0.600000	0.82982	TGG		TCGA-YY-A8LH-01A-11D-A36O-08	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	1	0	0	51	733	0	181	0	9.464658e-01	0	71	0	181	2		0	0	0	0	0	2	1	1.000000	51	724	0	177	2		0	0	0	0	181	2	-2.966611	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.230000	1.700000e-01	0.300000	0.240000	0.240308	0.230000	0	2.000000e-01	0.270000
FGF13	2258	broad.mit.edu	37	X	137793125	137793125	+	Missense_Mutation	SNP	C	C	G			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:137793125C>G	ENST00000315930.6	-	1	702	c.41G>C	c.(40-42)aGg>aCg	p.R14T	FGF13-AS1_ENST00000438238.1_RNA|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron|FGF13-AS1_ENST00000446383.1_RNA|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13			24	Acute lymphoblastic leukemia(192;0.000127)				GCGGGCTTGCCTCTTCTGACG	0.597000																								0							SO:0001583	missense			ENST00000315930.6	1	1	hg19	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473036	0.84640	.	.	ENSG00000129682	ENST00000315930	D	0.84944	-1.92	4.29	4.29	0.51040	.	.	.	.	.	D	0.86464	0.5939	L	0.60455	1.87	0.80722	D	1	P	0.46277	0.875	P	0.48524	0.58	D	0.88447	0.3046	9	0.72032	D	0.01	.	15.3424	0.74309	0.0:1.0:0.0:0.0	.	14	Q92913	FGF13_HUMAN	T	14	ENSP00000322390:R14T	ENSP00000322390:R14T	R	-	2	0	FGF13	137620791	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.318000	0.79029	1.889000	0.54706	0.529000	0.55759	AGG		TCGA-YY-A8LH-01A-11D-A36O-08	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	0	0	0	13	450	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	0.999468	12	440	0	126	2		0	0	0	0	127	2	-11.792490	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.100000	5.000000e-02	0.170000	0.100000	0.109271	0.100000	0	7.000000e-02	0.140000
PASD1	139135	broad.mit.edu	37	X	150817142	150817142	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:150817142G>A	ENST00000370357.4	+	9	930	c.685G>A	c.(685-687)Gct>Act	p.A229T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1			48	Acute lymphoblastic leukemia(192;6.56e-05)				CGTTGAACCCgctgctgctgc	0.438000																								0							SO:0001583	missense			ENST00000370357.4	1	0	hg19	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567649	0.28003	.	.	ENSG00000166049	ENST00000370357	T	0.70869	-0.52	4.14	-1.2	0.09554	.	.	.	.	.	T	0.34135	0.0887	N	0.14661	0.345	0.09310	N	1	P	0.37997	0.614	B	0.24006	0.05	T	0.39542	-0.9609	9	0.02654	T	1	.	0.9417	0.01357	0.3078:0.1545:0.3775:0.1602	.	229	Q8IV76	PASD1_HUMAN	T	229	ENSP00000359382:A229T	ENSP00000359382:A229T	A	+	1	0	PASD1	150567798	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.428000	0.06991	-0.573000	0.05998	0.422000	0.28245	GCT		TCGA-YY-A8LH-01A-11D-A36O-08	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	1	0	1	308	327	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	1.000000	157	170	0	90	2		0	0	0	0	183	2	-20.000000	1	1	120992	1	41	1	0	1	1			0.550000	3.730000	0.550000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1.000000
MECP2	4204	broad.mit.edu	37	X	153296299	153296299	+	Missense_Mutation	SNP	G	G	A	rs61751369		TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:153296299G>A	ENST00000303391.6	-	4	1229	c.980C>T	c.(979-981)aCc>aTc	p.T327I	MECP2_ENST00000453960.2_Missense_Mutation_p.T339I|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	p.T327N(1)		23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CTCACCGAGGGTGGACACCAG	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000303391.6	1	1	hg19	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599919	0.46318	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960	D;D	0.91295	-2.82;-2.81	5.06	5.06	0.68205	.	0.554194	0.19741	N	0.107108	T	0.81531	0.4842	N	0.14661	0.345	0.80722	D	1	B;B	0.26400	0.144;0.148	B;B	0.27170	0.077;0.035	T	0.76683	-0.2869	10	0.19147	T	0.46	-5.948	11.8253	0.52263	0.0:0.0:0.8245:0.1755	.	339;327	P51608-2;P51608	.;MECP2_HUMAN	I	327;327;339	ENSP00000301948:T327I;ENSP00000395535:T339I	ENSP00000301948:T327I	T	-	2	0	MECP2	152949493	0.912000	0.30974	0.128000	0.21923	0.887000	0.51463	5.301000	0.65727	2.344000	0.79699	0.600000	0.82982	ACC		TCGA-YY-A8LH-01A-11D-A36O-08	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	0	0	0	13	446	0	118	1	8.692156e-01	5	122	0	118	2		0	0	0	0	0	2	1	0.999505	12	442	0	116	2		0	0	0	0	118	2	-11.963040	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.100000	5.000000e-02	0.170000	0.100000	0.110218	0.100000	0	7.000000e-02	0.140000
VBP1	7411	broad.mit.edu	37	X	154464621	154464621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:154464621C>T	ENST00000286428.5	+	5	613	c.496C>T	c.(496-498)Cga>Tga	p.R166*	VBP1_ENST00000459836.1_3'UTR|VBP1_ENST00000535916.1_Nonsense_Mutation_p.R161*	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	p.R166G(1)		12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				TGACTTTCTTCGAGATCAATT	0.353000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000286428.5	0	1	hg19	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	C	37	6.295580	0.97449	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	.	.	.	4.86	4.86	0.63082	.	0.109676	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9083	10.1751	0.42933	0.1991:0.8008:0.0:0.0	.	.	.	.	X	161;166	.	ENSP00000286428:R166X	R	+	1	2	VBP1	154117815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.440000	0.52886	2.324000	0.78689	0.594000	0.82650	CGA		TCGA-YY-A8LH-01A-11D-A36O-08	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1	0	0	0	9	739	0	168	0	4.759532e-01	0	123	0	168	2		0	0	0	0	0	2	1	0.993692	9	726	0	166	2		0	0	0	0	168	2	-2.598769	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.040000	1.000000e-02	0.080000	0.040000	0.048611	0.040000	0	2.000000e-02	0.060000
MAGEB6	158809	broad.mit.edu	37	X	26213024	26213024	+	Missense_Mutation	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:26213024G>A	ENST00000379034.1	+	2	1210	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6			33					GATCCTCCATGCTATGAGTTC	0.498000																								0							SO:0001583	missense			ENST00000379034.1	0	1	hg19	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	5.430	0.264533	0.10294	.	.	ENSG00000176746	ENST00000379034	T	0.04706	3.57	3.29	-2.14	0.07123	.	0.617794	0.14414	U	0.321058	T	0.04770	0.0129	M	0.66439	2.03	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.49881	-0.8892	10	0.08381	T	0.77	.	5.8566	0.18722	0.2283:0.511:0.2607:0.0	.	354	Q8N7X4	MAGB6_HUMAN	Y	354	ENSP00000368320:C354Y	ENSP00000368320:C354Y	C	+	2	0	MAGEB6	26122945	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.416000	0.02467	-0.702000	0.05056	-0.957000	0.02645	TGC		TCGA-YY-A8LH-01A-11D-A36O-08	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	0	0	0	26	367	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1.000000	20	319	0	202	2		0	0	0	0	138	2	-7.329741	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.230000	1.500000e-01	0.340000	0.240000	0.248030	0.230000	0	1.900000e-01	0.290000
BCOR	54880	broad.mit.edu	37	X	39922163	39922163	+	Missense_Mutation	SNP	C	C	T			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:39922163C>T	ENST00000378444.4	-	9	4237	c.4009G>A	c.(4009-4011)Gaa>Aaa	p.E1337K	BCOR_ENST00000378463.1_Missense_Mutation_p.E180K|BCOR_ENST00000342274.4_Missense_Mutation_p.E1303K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1303K|BCOR_ENST00000378455.4_Missense_Mutation_p.E1285K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor			126					TCCTCTTCTTCGTCTGCACAC	0.532000			F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic								Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0							SO:0001583	missense			ENST00000378444.4	1	1	hg19	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518746	0.85495	0.0	1.49E-4	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	T;T;T;T;T;T;T	0.70516	-0.42;0.97;1.0;0.98;0.93;0.98;-0.49	5.67	5.67	0.87782	.	.	.	.	.	T	0.75845	0.3905	N	0.19112	0.55	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;0.997	D;D;P	0.78314	0.951;0.991;0.896	T	0.78889	-0.2026	9	0.56958	D	0.05	-10.0684	18.7655	0.91871	0.0:1.0:0.0:0.0	.	1285;1337;1303	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	207;180;1285;1303;1337;1303;10	ENSP00000408006:E207K;ENSP00000367724:E180K;ENSP00000367716:E1285K;ENSP00000380512:E1303K;ENSP00000367705:E1337K;ENSP00000345923:E1303K;ENSP00000387552:E10K	ENSP00000345923:E1303K	E	-	1	0	BCOR	39807107	1.000000	0.71417	0.350000	0.25708	0.966000	0.64601	3.518000	0.53451	2.376000	0.81061	0.600000	0.82982	GAA		TCGA-YY-A8LH-01A-11D-A36O-08	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	1	0	1	9	138	0	43	1	9.788593e-01	29	77	0	43	2		0	0	0	0	0	2	1	0.994332	8	137	0	42	2		0	0	0	0	43	2	-4.988409	1	1	121388	6	28	1	0	1	1			0.550000	3.730000	0.550000	0.220000	1.100000e-01	0.390000	0.220000	0.242687	0.220000	0	1.600000e-01	0.310000
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:57620752G>A	ENST00000374888.1	+	1	2484	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	p.A757A(1)		27					CAACCAAAGCGGAGTGGAACG	0.488000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000374888.1	1	1	hg19	CCDS35313.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	0	0	1	89	283	1	122	0	7.787196e-01	0	11	1	122	2		0	0	0	0	0	2	1	1.000000	87	279	1	119	12		0	0	0	1	122	2	-4.614652	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.860000	7.100000e-01	1.000000	1.000000	0.870873	0.860000	1	7.800000e-01	0.950000
MAGEE2	139599	broad.mit.edu	37	X	75004797	75004797	+	Silent	SNP	G	G	A			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:75004797G>A	ENST00000373359.2	-	1	282	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	p.N30N(2)		34					ACCCGGAGGCGTTAGTAGCTT	0.577000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000373359.2	1	1	hg19	CCDS14431.1																																																																																				TCGA-YY-A8LH-01A-11D-A36O-08	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	1	0	1	89	145	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1.000000	87	143	0	55	2		0	0	0	0	56	2	-20.000000	1	1	118024	4	40	1	0	1	1			0.550000	3.730000	0.550000	0.990000	9.900000e-01	1.000000	1.000000	0.999994	0.990000	1	9.900000e-01	1.000000
RPS6KA6	27330	broad.mit.edu	37	X	83362013	83362013	+	Missense_Mutation	SNP	G	G	C			TCGA-YY-A8LH-01A-11D-A36O-08	TCGA-YY-A8LH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527590f9-cf74-408c-a748-c698f1be8d37	81f01f7f-56f1-4882-914f-76940d0d117d	g.chrX:83362013G>C	ENST00000262752.2	-	14	1154	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	RPS6KA6_ENST00000495332.1_5'Flank|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q383E	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6			46					TTGAAGAGCTGATGAGCATTT	0.343000																								0							SO:0001583	missense			ENST00000262752.2	1	1	hg19	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280893	0.23392	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.50548	0.74;0.74	4.93	4.93	0.64822	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.115806	0.64402	D	0.000014	T	0.26738	0.0654	N	0.04148	-0.265	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.18263	0.021;0.015	T	0.12243	-1.0555	10	0.09843	T	0.71	.	17.563	0.87912	0.0:0.0:1.0:0.0	.	383;383	B7ZL90;Q9UK32	.;KS6A6_HUMAN	E	383	ENSP00000262752:Q383E;ENSP00000440830:Q383E	ENSP00000262752:Q383E	Q	-	1	0	RPS6KA6	83248669	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.577000	0.82486	2.162000	0.67917	0.600000	0.82982	CAG		TCGA-YY-A8LH-01A-11D-A36O-08	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	1	0	0	24	341	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	1.000000	24	339	0	76	2		0	0	0	0	78	2	-20.000000	1	1	0	0		1	0	1	1			0.550000	3.730000	0.550000	0.230000	1.500000e-01	0.340000	0.240000	0.247140	0.230000	0	1.900000e-01	0.290000
