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
ZNF45	7596	broad.mit.edu	37	19	44417694	44417695	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:44417694_44417695delTT	ENST00000269973.5	-	10	2983_2984	c.1893_1894delAA	c.(1891-1896)caaagafs	p.R632fs	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Frame_Shift_Del_p.R632fs	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45			17					GTGTGAACTCTTTGATGGGCTT	0.485000																								0							SO:0001589	frameshift_variant			ENST00000269973.5	1	0	hg19	CCDS12632.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	1	0	0	103	649	0	203	1	6.658681e-01	2	14	0	203	2	0	0	0	0	0	0		1	1.000000	115	650	2	194	20	0	0	0	0	0	0		-3.221885	1	1	0	0		1	1	2	3	2.007661	0	0.330000	1.980000	0.331104	0.820000	0.680000	0.990000	0.830000	0.834494	0.820000	0	0.750000	0.910000
TDP2	51567	broad.mit.edu	37	6	24654677	24654682	+	In_Frame_Del	DEL	GGAAAA	GGAAAA	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:24654677_24654682delGGAAAA	ENST00000378198.4	-	5	764_769	c.594_599delTTTTCC	c.(592-600)ccttttcca>cca	p.198_200PFP>P	TDP2_ENST00000545995.1_In_Frame_Del_p.228_230PFP>P|TDP2_ENST00000478285.1_5'UTR|TDP2_ENST00000341060.3_In_Frame_Del_p.140_142PFP>P			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2			9					TTTGGTACTTGGAAAAGGAATAATCT	0.272000								Direct reversal of damage																0							SO:0001651	inframe_deletion			ENST00000378198.4	1	1	hg19	CCDS4557.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1	1	0	0	28	309	0	140	0	6.331938e-01	1	24	0	140	2	0	0	0	0	0	0		1	0.994756	51	323	2	139	15	0	0	0	0	0	0		-2.716734	1	1	0	0		1	0	0	0	1.961174	0	0.330000	1.980000	0.314157	0.490000	0.330000	0.680000	0.490000	0.503211	0.490000	0	0.400000	0.590000
MUC17	140453	broad.mit.edu	37	7	100679767	100679767	+	Frame_Shift_Del	DEL	T	T	-			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:100679767delT	ENST00000306151.4	+	3	5134	c.5070delT	c.(5068-5070)actfs	p.T1690fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated			343	Lung NSC(181;0.136)|all_lung(186;0.182)				AAGGAAGAACTCCTTTAACAA	0.473000																								0							SO:0001589	frameshift_variant			ENST00000306151.4	1	0	hg19	CCDS34711.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	0	165	1363	0	402			0	0	0	402		0	0	0	0	0	0		1	1.000000	204	1341	0	389	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.998491	0	0.330000	1.980000	0.327782	0.640000	0.550000	0.750000	0.650000	0.654506	0.640000	0	0.600000	0.700000
MRC1L1	0	broad.mit.edu	37	10	17949641	17949641	+	Silent	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:17949641A>G	ENST00000331429.2	+	28	4108	c.4005A>G	c.(4003-4005)ttA>ttG	p.L1335L									14					GTGTAGCTTTACATGCGTCTT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000331429.2	0	1	hg19																																																																																					TCGA-3A-A9I5-01A-11D-A38G-08	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1	0	0	0	108	533	0	253	0	2.877577e-02	0	2	0	253	2	0	0	0	0	0	0		1	1.000000	96	488	0	303	2	0	0	0	0	0	0		-20.000000	1	1	120534	1	32	1	1	2	3	2.006938	0	0.330000	1.980000	0.331104	0.990000	0.850000	1.000000	1.000000	0.975872	0.990000	1	0.930000	1.000000
ZEB1	6935	broad.mit.edu	37	10	31799625	31799625	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:31799625T>C	ENST00000320985.10	+	5	616	c.506T>C	c.(505-507)tTa>tCa	p.L169S	ZEB1_ENST00000446923.2_Missense_Mutation_p.L153S|ZEB1_ENST00000560721.2_Missense_Mutation_p.L149S|ZEB1_ENST00000361642.5_Missense_Mutation_p.L170S|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.L102S			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1			77		Prostate(175;0.0156)			TTTTCACAATTACTCACCTGT	0.318000													Ovarian(40;423 959 14296 36701 49589)											0							SO:0001583	missense			ENST00000320985.10	1	1	hg19	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.4|24.4	4.532407|4.532407	0.85812|0.85812	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.15139|.	2.45;2.52;2.45;2.52;2.5|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.291763|.	0.23908|.	N|.	0.043369|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.998;0.998;0.998;0.999;0.998;0.998|.	T|T	0.66143|0.66143	-0.5997|-0.5997	10|6	0.72032|0.18276	D|T	0.01|0.48	-8.4191|-8.4191	16.1952|16.1952	0.82023|0.82023	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	102;169;153;169;169;149;170;169|.	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;.;.;ZEB1_HUMAN|.	S|H	169;170;169;102;169;149;28;170;153|61	ENSP00000354487:L170S;ENSP00000444891:L102S;ENSP00000319248:L169S;ENSP00000415961:L170S;ENSP00000391612:L153S|.	ENSP00000319248:L169S|ENSP00000443742:Y61H	L|Y	+|+	2|1	0|0	ZEB1|ZEB1	31839631|31839631	1.000000|1.000000	0.71417|0.71417	0.883000|0.883000	0.34634|0.34634	0.979000|0.979000	0.70002|0.70002	7.630000|7.630000	0.83225|0.83225	2.236000|2.236000	0.73375|0.73375	0.482000|0.482000	0.46254|0.46254	TTA|TAC		TCGA-3A-A9I5-01A-11D-A38G-08	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	1	0	1	56	228	0	83		0	0	0	0	83	2	0	0	0	0	0	0		1	1.000000	55	225	0	83	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.006938	0	0.330000	1.980000	0.331104	0.990000	0.920000	1.000000	1.000000	0.995863	0.990000	1	0.990000	1.000000
ZNF32	7580	broad.mit.edu	37	10	44139613	44139613	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:44139613C>T	ENST00000395797.1	-	3	895	c.707G>A	c.(706-708)gGc>gAc	p.G236D	ZNF32_ENST00000374433.2_Missense_Mutation_p.G236D|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000485351.1_5'Flank	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32			14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)			GTGGATTTTGCCATGCAGAAT	0.532000																								0							SO:0001583	missense			ENST00000395797.1	0	1	hg19	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107138	0.37145	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07444	3.19;3.19	4.67	4.67	0.58626	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.135771	0.34411	N	0.003995	T	0.08044	0.0201	L	0.37750	1.13	0.33588	D	0.60073	B	0.15930	0.015	B	0.22880	0.042	T	0.02766	-1.1113	10	0.87932	D	0	-4.6653	8.9989	0.36069	0.0:0.9032:0.0:0.0968	.	236	P17041	ZNF32_HUMAN	D	236	ENSP00000363556:G236D;ENSP00000379143:G236D	ENSP00000363556:G236D	G	-	2	0	ZNF32	43459619	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.715000	0.25822	2.876000	0.98609	0.655000	0.94253	GGC		TCGA-3A-A9I5-01A-11D-A38G-08	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	0	0	0	4	222	1	88	0	9.417638e-02	0	372	1	88	15	0	0	0	0	0	0		0	0.082426	4	220	1	88	10	0	0	0	0	0	0		-2.983906	1	1	0	0		1	1	2	3	2.006938	0	0.330000	1.980000	0.331104	0.110000	0.030000	0.270000	0.110000	0.131939	0.110000	0	0.070000	0.190000
ANK3	288	broad.mit.edu	37	10	61831534	61831534	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr10:61831534G>A	ENST00000280772.2	-	37	9296	c.9105C>T	c.(9103-9105)tgC>tgT	p.C3035C	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					CGAGAGGTGGGCATAAACCTA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000280772.2	0	1	hg19	CCDS7258.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	0	6	557	0	165		0	0	0	0	165	2	0	0	0	0	0	0		1	0.962943	6	545	0	155	2	0	0	0	0	0	0		-1.787122	0	1	0	0		1	1	2	3	2.007897	0	0.330000	1.980000	0.331104	0.060000	0.020000	0.140000	0.060000	0.074961	0.060000	0	0.040000	0.100000
FAT3	120114	broad.mit.edu	37	11	92532244	92532244	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr11:92532244C>A	ENST00000298047.6	+	9	6082	c.6065C>A	c.(6064-6066)cCa>cAa	p.P2022Q	FAT3_ENST00000525166.1_Missense_Mutation_p.P1872Q|FAT3_ENST00000409404.2_Missense_Mutation_p.P2022Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			ATCTTAAACCCAGGAAATAAG	0.408000										TCGA Ovarian(4;0.039)														0							SO:0001583	missense			ENST00000298047.6	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.37	2.813099	0.50527	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49432	0.78;0.78;0.78	5.82	5.82	0.92795	.	.	.	.	.	T	0.36413	0.0966	L	0.32530	0.975	0.80722	D	1	P	0.35656	0.514	B	0.27715	0.082	T	0.31280	-0.9949	9	0.66056	D	0.02	.	14.8861	0.70570	0.1434:0.8566:0.0:0.0	.	2022	Q8TDW7-3	.	Q	2022;2022;1872	ENSP00000298047:P2022Q;ENSP00000387040:P2022Q;ENSP00000432586:P1872Q	ENSP00000298047:P2022Q	P	+	2	0	FAT3	92171892	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.778000	0.62368	2.760000	0.94817	0.655000	0.94253	CCA		TCGA-3A-A9I5-01A-11D-A38G-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	5	316	0	93		0	0	0	0	93	2	0	0	0	0	0	0		1	0.935410	5	311	0	91	2	0	0	0	0	0	0		-1.922709	0	1	0	0		1	0	1	1	2.000205	1	0.330000	1.980000	0.197605	0.080000	0.020000	0.170000	0.080000	0.092812	0.080000	0	0.050000	0.130000
LRP6	4040	broad.mit.edu	37	12	12284920	12284920	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr12:12284920G>A	ENST00000261349.4	-	18	3881	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'UTR|LRP6_ENST00000543091.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6			85		Prostate(47;0.0865)			CCATCGCACCGCCAAGCCACA	0.483000																								0							SO:0001583	missense			ENST00000261349.4	0	1	hg19	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726908	0.69074	.	.	ENSG00000070018	ENST00000261349	D	0.95980	-3.87	5.92	1.86	0.25419	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.56097	D	0.000024	D	0.96914	0.8992	M	0.66506	2.035	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96190	0.9137	10	0.52906	T	0.07	.	15.8612	0.79021	0.0:0.0:0.5352:0.4648	.	1269	O75581	LRP6_HUMAN	W	1269	ENSP00000261349:R1269W	ENSP00000261349:R1269W	R	-	1	2	LRP6	12176187	1.000000	0.71417	0.958000	0.39756	0.805000	0.45488	2.391000	0.44424	0.378000	0.24764	-0.182000	0.12963	CGG		TCGA-3A-A9I5-01A-11D-A38G-08	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1	0	0	0	5	255	0	108		0	0	0	0	108	2	0	0	0	0	0	0		1	0.933561	5	248	0	104	2	0	0	0	0	0	0		-2.288066	0	1	0	0		1	1	2	3	2.036704	0	0.330000	1.980000	0.336568	0.130000	0.040000	1.000000	0.120000	0.179539	0.130000	0	0.080000	0.210000
IFT88	8100	broad.mit.edu	37	13	21205194	21205194	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:21205194A>G	ENST00000319980.6	+	18	1693	c.1366A>G	c.(1366-1368)Aga>Gga	p.R456G	IFT88_ENST00000382778.4_Missense_Mutation_p.R456G|IFT88_ENST00000351808.5_Missense_Mutation_p.R447G|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000537103.1_Missense_Mutation_p.R428G	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	p.R456G(1)		27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)			AAAGGACAGTAGAGTGAAAAG	0.338000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000319980.6	1	1	hg19	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254980	0.59321	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.75938	-0.98;0.84;0.84;0.84	5.42	2.75	0.32379	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	M	0.72894	2.215	0.58432	D	0.999998	P;P;B;B	0.44734	0.842;0.756;0.243;0.376	P;B;B;B	0.47645	0.553;0.351;0.09;0.079	T	0.76498	-0.2937	10	0.39692	T	0.17	-17.5293	13.3327	0.60497	0.7395:0.2605:0.0:0.0	.	428;456;254;456	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	G	456;319;447;456;428	ENSP00000372228:R456G;ENSP00000261632:R447G;ENSP00000323580:R456G;ENSP00000437719:R428G	ENSP00000323580:R456G	R	+	1	2	IFT88	20103194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.496000	0.35638	0.849000	0.35215	0.533000	0.62120	AGA		TCGA-3A-A9I5-01A-11D-A38G-08	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	1	0	1	92	490	0	215	1	7.448150e-01	6	10	0	215	2	0	0	0	0	0	0		1	1.000000	91	483	0	212	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.997416	0	0.330000	1.980000	0.327782	0.950000	0.780000	1.000000	1.000000	0.938795	0.950000	1	0.860000	1.000000
COG6	57511	broad.mit.edu	37	13	40293931	40293931	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr13:40293931C>A	ENST00000455146.3	+	15	1601	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	COG6_ENST00000416691.1_Missense_Mutation_p.F517L	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6			13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)			TATTTGAATTCACTGACAGAC	0.348000																								0							SO:0001583	missense			ENST00000455146.3	1	1	hg19	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534911	0.85812	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.56275	0.47;0.47	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	M	0.85777	2.775	0.80722	D	1	D;D	0.67145	0.996;0.985	D;P	0.63381	0.914;0.873	T	0.70722	-0.4794	10	0.41790	T	0.15	-31.3845	10.4589	0.44567	0.0:0.8468:0.0:0.1532	.	538;517	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	L	517;548;517	ENSP00000403733:F517L;ENSP00000397441:F517L	ENSP00000255468:F548L	F	+	3	2	COG6	39191931	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.407000	0.34657	2.661000	0.90470	0.655000	0.94253	TTC		TCGA-3A-A9I5-01A-11D-A38G-08	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3	1	0	1	55	388	0	140	0	2.667516e-01	1	7	0	140	2	0	0	0	0	0	0		1	1.000000	55	385	0	139	2	0	0	0	0	0	0		-3.318800	1	1	0	0		1	0	0	0	1.997416	0	0.330000	1.980000	0.327782	0.740000	0.570000	0.940000	0.750000	0.756356	0.740000	0	0.650000	0.850000
CELF6	60677	broad.mit.edu	37	15	72611989	72611989	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr15:72611989G>A	ENST00000569547.1	-	1	298	c.227C>T	c.(226-228)aCg>aTg	p.T76M	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Missense_Mutation_p.T76M|CELF6_ENST00000539635.1_De_novo_Start_OutOfFrame|CELF6_ENST00000287202.5_Missense_Mutation_p.T76M			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6			13					CTTCAGCACCGTCAGCTCGTA	0.672000																								0							SO:0001583	missense			ENST00000569547.1	0	1	hg19	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140441	0.77775	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.16597	2.33	4.76	4.76	0.60689	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.45361	U	0.000362	T	0.36936	0.0985	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.15093	-1.0449	10	0.87932	D	0	-12.5926	16.3333	0.83050	0.0:0.0:1.0:0.0	.	76;76	B4DJB6;Q96J87	.;CELF6_HUMAN	M	76	ENSP00000287202:T76M	ENSP00000287202:T76M	T	-	2	0	CELF6	70399043	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.551000	0.82182	2.182000	0.69389	0.563000	0.77884	ACG		TCGA-3A-A9I5-01A-11D-A38G-08	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	0	0	0	3	30	0	19	0	4.247104e-02	0	3	0	19	2	0	0	0	0	0	0		1	0.812722	3	30	0	18	2	0	0	0	0	0	0		-8.631695	1	1	0	0		1	0	0	0	1.994058	0	0.330000	1.980000	0.325549	0.590000	0.180000	1.000000	1.000000	0.621114	0.590000	0	0.340000	0.930000
PTX4	390667	broad.mit.edu	37	16	1537593	1537593	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:1537593G>A	ENST00000447419.2	-	2	545	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	PTX4_ENST00000293922.1_Missense_Mutation_p.R169W|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long			17					ACGGGCAGCCGCCCCTCCAGA	0.721000																								0							SO:0001583	missense			ENST00000447419.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.721	1.159636	0.21454	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05996	3.52;3.36	5.28	0.783	0.18572	.	2.155680	0.01935	N	0.041519	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39165	-0.9627	10	0.42905	T	0.14	.	6.0711	0.19889	0.2607:0.0:0.608:0.1313	.	169	Q96A99-2	.	W	174;169	ENSP00000445277:R174W;ENSP00000293922:R169W	ENSP00000293922:R169W	R	-	1	2	PTX4	1477594	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.388000	0.20735	-0.209000	0.10156	-2.067000	0.00394	CGG		TCGA-3A-A9I5-01A-11D-A38G-08	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	1	0	0	8	42	0	36		0	0	0	0	36	2	0	0	0	0	0	0		1	0.990650	8	41	0	36	2	0	0	0	0	0	0		-15.988350	1	1	119952	2	27	1	0	1	1	1.771659	1	0.330000	1.980000	0.219205	0.770000	0.390000	1.000000	1.000000	0.770777	0.770000	0	0.570000	0.990000
PKD1	5310	broad.mit.edu	37	16	2150516	2150516	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:2150516C>T	ENST00000262304.4	-	27	9657	c.9449G>A	c.(9448-9450)gGc>gAc	p.G3150D	PKD1_ENST00000423118.1_Missense_Mutation_p.G3150D	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					GTGCCGGTGGCCGCTCCGGCT	0.672000																								0							SO:0001583	missense			ENST00000262304.4	0	1	hg19	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579605	0.86645	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.66280	-0.2;-0.2	4.49	4.49	0.54785	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.054327	0.64402	D	0.000001	T	0.77356	0.4118	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75374	-0.3340	10	0.28530	T	0.3	.	17.3723	0.87382	0.0:1.0:0.0:0.0	.	3150;3150	P98161-3;P98161	.;PKD1_HUMAN	D	3150;3150;2485	ENSP00000262304:G3150D;ENSP00000399501:G3150D	ENSP00000262304:G3150D	G	-	2	0	PKD1	2090517	1.000000	0.71417	0.996000	0.52242	0.760000	0.43138	7.193000	0.77780	2.326000	0.78906	0.555000	0.69702	GGC		TCGA-3A-A9I5-01A-11D-A38G-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	0	4	120	0	64	0	1.044746e-02	0	4	0	64	2	0	0	0	0	0	0		1	0.823319	3	94	0	66	2	0	0	0	0	0	0		-6.577764	1	0	0	0		1	0	1	1	1.771659	1	0.330000	1.980000	0.219205	0.180000	0.060000	0.380000	0.160000	0.200493	0.180000	0	0.110000	0.280000
CPNE2	221184	broad.mit.edu	37	16	57157386	57157386	+	Splice_Site	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:57157386G>A	ENST00000535318.2	+	11	1288		c.e11+1		CPNE2_ENST00000290776.8_Splice_Site|CPNE2_ENST00000537605.1_Splice_Site|CPNE2_ENST00000565874.1_Splice_Site			Q96FN4	CPNE2_HUMAN	copine II			21		all_neural(199;0.224)			CATGTTCACCGTAAGGCTCTC	0.577000																								0							SO:0001630	splice_region_variant			ENST00000535318.2	0	1	hg19	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493625	0.64186	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6008	0.91247	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPNE2	55714887	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	9.789000	0.99068	2.456000	0.83038	0.561000	0.74099	.		TCGA-3A-A9I5-01A-11D-A38G-08	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	0	0	0	5	288	0	74		0	0	0	0	74	2	0	0	0	0	0	0		1	0.934616	5	282	0	71	2	0	0	0	0	0	0		-2.557646	1	1	0	0		1	1	2	3	2.009631	0	0.330000	1.980000	0.331104	0.110000	0.030000	0.240000	0.100000	0.122624	0.110000	0	0.060000	0.170000
FOXC2	2303	broad.mit.edu	37	16	86602198	86602198	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr16:86602198G>A	ENST00000320354.4	+	1	1342	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)			15					ccgccgcggcGCAGGCGGCCT	0.756000									Late-onset Hereditary Lymphedema															0							SO:0001819	synonymous_variant	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	ENST00000320354.4	1	1	hg19	CCDS10958.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	1	0	0	10	54	0	38	0	0	0	1	0	38	2	0	0	0	0	0	0		1	0.996111	8	50	0	35	2	0	0	0	0	0	0		-19.036180	1	1	0	0		1	1	2	3	2.009631	0	0.330000	1.980000	0.331104	0.950000	0.510000	1.000000	1.000000	0.883112	0.950000	1	0.710000	1.000000
GSG2	83903	broad.mit.edu	37	17	3629075	3629075	+	Nonsense_Mutation	SNP	C	C	T	rs143259437	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:3629075C>T	ENST00000325418.4	+	1	1865	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)								AGAGCAAATGCGAACCAAGTT	0.493000																								0							SO:0001587	stop_gained			ENST00000325418.4	0	1	hg19	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	c	17.44	3.389675	0.61956	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.7	2.4	0.29515	.	0.312616	0.27956	N	0.017167	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.8234	10.2856	0.43564	0.6793:0.3207:0.0:0.0	.	.	.	.	X	616	.	ENSP00000325290:R616X	R	+	1	2	GSG2	3575824	0.759000	0.28416	0.406000	0.26421	0.044000	0.14063	1.353000	0.34045	0.349000	0.23975	-0.259000	0.10710	CGA		TCGA-3A-A9I5-01A-11D-A38G-08	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	0	0	1	63	425	0	265	0	1.729083e-02	1	1	0	265	2	0	0	0	0	0	0		1	1.000000	63	417	0	263	2	0	0	0	0	0	0		-3.221879	1	1	121410	60	51	1	1	2	3	2.015237	0	0.330000	1.980000	0.332204	0.780000	0.610000	1.000000	0.780000	0.792388	0.780000	0	0.690000	0.890000
KCNH4	23415	broad.mit.edu	37	17	40318480	40318480	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:40318480C>A	ENST00000264661.3	-	10	2007	c.1675G>T	c.(1675-1677)Gca>Tca	p.A559S	KCNH4_ENST00000607371.1_Missense_Mutation_p.A559S	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			CTGCTCGCTGCCCCGAACAAC	0.622000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	1	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202261	0.22121	.	.	ENSG00000089558	ENST00000264661	D	0.96459	-4.02	4.2	4.2	0.49525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.39341	N	0.001385	D	0.85340	0.5674	N	0.03000	-0.44	0.39245	D	0.963924	B	0.14438	0.01	B	0.20184	0.028	T	0.79408	-0.1816	10	0.07325	T	0.83	.	4.9932	0.14226	0.0:0.7295:0.0:0.2705	.	559	Q9UQ05	KCNH4_HUMAN	S	559	ENSP00000264661:A559S	ENSP00000264661:A559S	A	-	1	0	KCNH4	37572006	0.174000	0.23070	0.998000	0.56505	0.556000	0.35491	0.088000	0.14979	2.182000	0.69389	0.563000	0.77884	GCA		TCGA-3A-A9I5-01A-11D-A38G-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	1	79	171	0	89		0	0	0	0	89	2	0	0	0	0	0	0		1	1.000000	76	166	0	86	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.298072	1	0.330000	1.980000	0.417467	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CCDC43	124808	broad.mit.edu	37	17	42757964	42757964	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:42757964C>T	ENST00000315286.8	-	4	484	c.476G>A	c.(475-477)gGt>gAt	p.G159D	CCDC43_ENST00000457422.2_Intron|CCDC43_ENST00000588210.1_Missense_Mutation_p.G162D|C17orf104_ENST00000588805.1_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43			2		Prostate(33;0.0322)			TTTGTCAGAACCAATGTTCAT	0.433000																								0							SO:0001583	missense			ENST00000315286.8	0	1	hg19	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418900	0.62622	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.06	6.06	0.98353	.	0.509221	0.21926	N	0.067089	T	0.57080	0.2029	L	0.41710	1.295	0.39483	D	0.967924	B	0.18610	0.029	B	0.13407	0.009	T	0.51325	-0.8720	9	0.42905	T	0.14	-9.135	18.4128	0.90558	0.0:1.0:0.0:0.0	.	159	Q96MW1	CCD43_HUMAN	D	159	.	ENSP00000323782:G159D	G	-	2	0	CCDC43	40113490	0.314000	0.24563	0.994000	0.49952	0.936000	0.57629	1.807000	0.38902	2.880000	0.98712	0.650000	0.86243	GGT		TCGA-3A-A9I5-01A-11D-A38G-08	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	0	0	0	6	523	0	212	0	2.274641e-02	0	17	0	212	2	0	0	0	0	0	0		1	0.962592	6	512	0	207	2	0	0	0	0	0	0		-3.075015	1	1	0	0		1	1	2	3	2.298072	1	0.330000	1.980000	0.417467	0.080000	0.020000	1.000000	0.090000	0.157738	0.080000	0	0.050000	0.140000
SPNS2	124976	broad.mit.edu	37	17	4436651	4436651	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4436651C>T	ENST00000329078.3	+	8	1412	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)			6					CTGGTGTGTGCCGTGGGCATG	0.642000																								0							SO:0001583	missense			ENST00000329078.3	0	1	hg19	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	c	35	5.572813	0.96553	.	.	ENSG00000183018	ENST00000329078	T	0.58652	0.32	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81536	-0.0888	10	0.87932	D	0	.	16.2505	0.82481	0.0:1.0:0.0:0.0	.	401	Q8IVW8	SPNS2_HUMAN	V	401	ENSP00000333292:A401V	ENSP00000333292:A401V	A	+	2	0	SPNS2	4383400	1.000000	0.71417	0.956000	0.39512	0.972000	0.66771	7.815000	0.86186	2.161000	0.67846	0.486000	0.48141	GCC		TCGA-3A-A9I5-01A-11D-A38G-08	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1	0	0	0	4	182	0	78	0	6.502030e-02	0	15	0	78	2	0	0	0	0	0	0		1	0.886093	4	178	0	78	2	0	0	0	0	0	0		-3.544469	1	1	0	0		1	1	2	3	2.015237	0	0.330000	1.980000	0.332204	0.140000	0.040000	0.350000	0.130000	0.168205	0.140000	0	0.080000	0.230000
SPNS2	124976	broad.mit.edu	37	17	4439661	4439661	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr17:4439661G>A	ENST00000329078.3	+	11	1757	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)			6					GTCCTGGGCGGCATGTTCTTC	0.667000																								0							SO:0001583	missense			ENST00000329078.3	0	1	hg19	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027900	0.93518	.	.	ENSG00000183018	ENST00000329078	T	0.60040	0.22	4.82	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.84846	2.72	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.82255	-0.0548	10	0.87932	D	0	.	16.6284	0.84993	0.0:0.0:1.0:0.0	.	516	Q8IVW8	SPNS2_HUMAN	D	516	ENSP00000333292:G516D	ENSP00000333292:G516D	G	+	2	0	SPNS2	4386410	1.000000	0.71417	0.998000	0.56505	0.647000	0.38526	7.685000	0.84117	2.504000	0.84457	0.563000	0.77884	GGC		TCGA-3A-A9I5-01A-11D-A38G-08	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1	0	0	0	7	336	0	156	0	2.224059e-01	0	38	0	156	2	0	0	0	0	0	0		1	0.980263	7	332	0	155	2	0	0	0	0	0	0		-2.832811	1	1	0	0		1	1	2	3	2.015237	0	0.330000	1.980000	0.332204	0.130000	0.050000	0.270000	0.120000	0.148596	0.130000	0	0.080000	0.190000
RYR1	6261	broad.mit.edu	37	19	38976333	38976333	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:38976333G>A	ENST00000359596.3	+	34	5038	c.5038G>A	c.(5038-5040)Gtg>Atg	p.V1680M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1680M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1680M			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)	CAACAATCGCGTGGCGCACGC	0.672000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731538	0.69189	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98150	-4.75;-4.75;-4.75	4.07	4.07	0.47477	.	0.190439	0.31872	U	0.006936	D	0.98642	0.9545	M	0.83603	2.65	0.47153	D	0.999332	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99758	1.1020	10	0.87932	D	0	.	16.0625	0.80847	0.0:0.0:1.0:0.0	.	1680;1680	P21817-2;P21817	.;RYR1_HUMAN	M	1680	ENSP00000352608:V1680M;ENSP00000347667:V1680M;ENSP00000354254:V1680M	ENSP00000347667:V1680M	V	+	1	0	RYR1	43668173	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.556000	0.98127	2.096000	0.63516	0.650000	0.86243	GTG		TCGA-3A-A9I5-01A-11D-A38G-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	58	253	0	173		0	0	0	0	173	2	0	0	0	0	0	0		1	1.000000	57	246	0	172	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	2.002295	0	0.330000	1.980000	0.328893	0.990000	0.870000	1.000000	1.000000	0.989987	0.990000	1	0.990000	1.000000
RYR1	6261	broad.mit.edu	37	19	39008205	39008205	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:39008205G>A	ENST00000359596.3	+	66	9892	c.9892G>A	c.(9892-9894)Gcc>Acc	p.A3298T	RYR1_ENST00000360985.3_Missense_Mutation_p.A3298T|RYR1_ENST00000355481.4_Missense_Mutation_p.A3298T			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)	CGCCCTGCCCGCCGGCGCCCC	0.642000																								0							SO:0001583	missense			ENST00000359596.3	0	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083940	0.08583	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96554	-4.05;-4.05;-4.05	3.6	2.39	0.29439	.	0.186063	0.32868	U	0.005550	D	0.92107	0.7498	L	0.51422	1.61	0.24955	N	0.991763	P;B;B	0.36660	0.564;0.411;0.147	B;B;B	0.27262	0.078;0.054;0.007	D	0.84408	0.0564	10	0.22109	T	0.4	.	13.1533	0.59503	0.0:0.2423:0.7577:0.0	.	3298;3298;3298	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	T	3298;3298;3298;218	ENSP00000352608:A3298T;ENSP00000347667:A3298T;ENSP00000354254:A3298T	ENSP00000347667:A3298T	A	+	1	0	RYR1	43700045	0.680000	0.27605	0.892000	0.35008	0.030000	0.12068	2.996000	0.49449	1.567000	0.49668	0.205000	0.17691	GCC		TCGA-3A-A9I5-01A-11D-A38G-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	0	4	130	0	102		0	0	0	0	102	2	0	0	0	0	0	0		1	0.884364	4	127	0	99	2	0	0	0	0	0	0		-3.526471	1	1	121396	12	40	1	0	1	1	2.002295	0	0.330000	1.980000	0.328893	0.190000	0.060000	0.420000	0.180000	0.219086	0.190000	0	0.120000	0.310000
MEGF8	1954	broad.mit.edu	37	19	42860499	42860499	+	Missense_Mutation	SNP	C	C	T	rs142361779	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:42860499C>T	ENST00000251268.6	+	26	4516	c.4516C>T	c.(4516-4518)Cgc>Tgc	p.R1506C	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1439C	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			CACTGCCAGCCGCTTCCTGCA	0.652000																								0							SO:0001583	missense			ENST00000251268.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.14	3.770638	0.69992	4.54E-4	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.66460	-0.21;-0.21	5.02	5.02	0.67125	Galactose oxidase/kelch, beta-propeller (1);	0.000000	0.64402	D	0.000002	T	0.76535	0.4001	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.967	T	0.79037	-0.1967	10	0.72032	D	0.01	-31.8929	17.1145	0.86685	0.0:1.0:0.0:0.0	.	1506;1439	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	C	1439;1506	ENSP00000334219:R1439C;ENSP00000251268:R1506C	ENSP00000251268:R1506C	R	+	1	0	MEGF8	47552339	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.395000	0.59678	2.345000	0.79718	0.557000	0.71058	CGC		TCGA-3A-A9I5-01A-11D-A38G-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	15	85	0	37	0	6.870799e-02	0	3	0	37	2	0	0	0	0	0	0		1	0.999885	14	82	0	37	2	0	0	0	0	0	0		-19.999990	1	1	121402	7	36	1	1	2	3	2.007661	0	0.330000	1.980000	0.331104	0.910000	0.550000	1.000000	1.000000	0.876204	0.910000	1	0.710000	1.000000
PRR12	57479	broad.mit.edu	37	19	50101153	50101153	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:50101153C>T	ENST00000418929.2	+	4	3573	c.3561C>T	c.(3559-3561)ccC>ccT	p.P1187P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12			11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)			CTGCGGGGCCCGCCTCGGCCT	0.766000																								0							SO:0001819	synonymous_variant			ENST00000418929.2	0	1	hg19	CCDS46143.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	0	0	0	3	15	0	16	0	1.168831e-01	0	3	0	16	2	0	0	0	0	0	0		1	0.794372	3	14	0	11	2	0	0	0	0	0	0		-10.656440	1	1	0	0		1	1	2	3	2.007661	0	0.330000	1.980000	0.331104	0.990000	0.320000	1.000000	1.000000	0.854021	0.990000	1	0.610000	1.000000
KLK15	55554	broad.mit.edu	37	19	51330227	51330227	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:51330227G>A	ENST00000598239.1	-	3	418	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	KLK15_ENST00000596931.1_Missense_Mutation_p.R129C|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.R129C|KLK15_ENST00000301421.2_Missense_Mutation_p.R130C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15			24		all_neural(266;0.057)			TGGGGGCAACGCGTGGGTAGC	0.711000													Pancreas(140;10 2513 7143 9246)											0							SO:0001583	missense			ENST00000598239.1	1	1	hg19	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	14.99	2.699087	0.48307	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88975	-2.45	4.39	4.39	0.52855	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.444898	0.19247	N	0.119028	D	0.91945	0.7449	M	0.64997	1.995	0.09310	N	0.999999	D;P;D	0.89917	1.0;0.732;0.999	P;B;D	0.64877	0.892;0.167;0.93	D	0.84679	0.0716	10	0.72032	D	0.01	.	10.6517	0.45653	0.0:0.1948:0.8052:0.0	.	130;129;130	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	C	130	ENSP00000301421:R130C	ENSP00000301421:R130C	R	-	1	0	KLK15	56022039	0.000000	0.05858	0.063000	0.19743	0.016000	0.09150	-0.260000	0.08708	2.454000	0.82982	0.555000	0.69702	CGT		TCGA-3A-A9I5-01A-11D-A38G-08	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	1	0	1	47	200	0	116		0	0	0	0	116	2	0	0	0	0	0	0		1	1.000000	45	196	0	113	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.007661	0	0.330000	1.980000	0.331104	0.990000	0.870000	1.000000	1.000000	0.990298	0.990000	1	0.990000	1.000000
ZNF274	10782	broad.mit.edu	37	19	58718233	58718233	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr19:58718233G>T	ENST00000326804.4	+	5	862	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ZNF274_ENST00000424679.2_Missense_Mutation_p.D30Y|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D103Y	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274			21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)			ATATGCTGAAGATGGAAGCCT	0.597000																								0							SO:0001583	missense			ENST00000326804.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.784	1.176193	0.21704	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.08193	3.19;3.12;3.16	3.45	-1.9	0.07665	.	1.323810	0.05424	N	0.544714	T	0.18635	0.0447	L	0.51422	1.61	0.09310	N	1	D;D;P	0.76494	0.987;0.999;0.94	P;D;P	0.63703	0.663;0.917;0.462	T	0.30995	-0.9959	10	0.87932	D	0	-0.3588	6.8146	0.23822	0.5997:0.0:0.4003:0.0	.	30;103;135	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	Y	135;103;30	ENSP00000321209:D135Y;ENSP00000321187:D103Y;ENSP00000409872:D30Y	ENSP00000321209:D135Y	D	+	1	0	ZNF274	63410045	0.076000	0.21285	0.001000	0.08648	0.215000	0.24574	0.215000	0.17562	-0.267000	0.09325	0.462000	0.41574	GAT		TCGA-3A-A9I5-01A-11D-A38G-08	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	22	92	0	41	0	1.807444e-01	0	4	0	41	2	0	0	0	0	0	0		1	0.999999	22	91	0	41	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.044746	0	0.330000	1.980000	0.337650	0.990000	0.790000	1.000000	1.000000	0.980621	0.990000	1	0.970000	1.000000
GJA5	2702	broad.mit.edu	37	1	147230999	147230999	+	Missense_Mutation	SNP	C	C	G	rs150168016		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:147230999C>G	ENST00000271348.2	-	2	509	c.348G>C	c.(346-348)gaG>gaC	p.E116D	GJA5_ENST00000369237.1_Missense_Mutation_p.E116D|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa			20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)		AGCCCCGGACCTCTTTGGCCC	0.622000																								0							SO:0001583	missense			ENST00000271348.2	1	1	hg19	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.432319	0.01108	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.46;-4.46;-4.52	5.47	2.17	0.27698	.	0.857393	0.10119	N	0.713656	D	0.86339	0.5909	N	0.16478	0.41	0.09310	N	0.999997	B	0.15141	0.012	B	0.17979	0.02	T	0.79694	-0.1696	10	0.14656	T	0.56	.	6.9223	0.24395	0.2411:0.5858:0.106:0.0671	.	116	P36382	CXA5_HUMAN	D	116	ENSP00000271348:E116D;ENSP00000358240:E116D;ENSP00000407645:E116D	ENSP00000271348:E116D	E	-	3	2	GJA5	145697623	0.363000	0.24989	0.121000	0.21740	0.021000	0.10359	0.607000	0.24209	0.660000	0.30964	-0.309000	0.09137	GAG		TCGA-3A-A9I5-01A-11D-A38G-08	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	1	0	1	114	302	0	122	0	6.898578e-01	0	8	0	122	2	0	0	0	0	0	0		1	1.000000	114	294	0	120	2	0	0	0	0	0	0		-2.841725	1	1	0	0		1	1	3	4	2.591576	1	0.330000	1.980000	0.496241	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SNX27	81609	broad.mit.edu	37	1	151611414	151611414	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:151611414T>C	ENST00000458013.2	+	2	482	c.362T>C	c.(361-363)aTt>aCt	p.I121T	SNX27_ENST00000368843.3_Missense_Mutation_p.I121T|SNX27_ENST00000368838.1_Missense_Mutation_p.I28T			Q96L92	SNX27_HUMAN	sorting nexin family member 27			5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)		GTGGACCTGATTCGAGCAGGC	0.483000													Colon(46;291 966 40145 41237 41888)											0							SO:0001583	missense			ENST00000458013.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	19.79	3.892752	0.72524	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.56103	0.48;0.48;0.48	4.13	4.13	0.48395	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.63773	-0.6561	10	0.72032	D	0.01	.	12.3924	0.55366	0.0:0.0:0.0:1.0	.	121;121	Q96L92;Q96L92-3	SNX27_HUMAN;.	T	121;121;28	ENSP00000400333:I121T;ENSP00000357836:I121T;ENSP00000357831:I28T	ENSP00000357831:I28T	I	+	2	0	SNX27	149878038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.460000	0.80816	1.862000	0.54008	0.482000	0.46254	ATT		TCGA-3A-A9I5-01A-11D-A38G-08	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	1	0	1	34	283	0	103	0	1.234326e-02	0	2	0	103	2	0	0	0	0	0	0		1	1.000000	33	277	0	101	2	0	0	0	0	0	0		-13.516450	1	1	0	0		1	1	3	4	2.591576	1	0.330000	1.980000	0.496241	0.860000	0.610000	1.000000	1.000000	0.864276	0.860000	1	0.730000	1.000000
FAM129A	116496	broad.mit.edu	37	1	184764871	184764871	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:184764871A>T	ENST00000367511.3	-	14	2220	c.2027T>A	c.(2026-2028)cTc>cAc	p.L676H	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A			45					TGTGCCCGGGAGTCCTGCTGT	0.582000																								0							SO:0001583	missense			ENST00000367511.3	1	1	hg19	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795937	0.31777	.	.	ENSG00000135842	ENST00000367511	T	0.10005	2.92	5.17	2.64	0.31445	.	0.972905	0.08410	N	0.950059	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	P	0.45827	0.867	B	0.41202	0.35	T	0.32214	-0.9915	10	0.41790	T	0.15	0.0338	7.1356	0.25527	0.209:0.1395:0.6516:0.0	.	676	Q9BZQ8	NIBAN_HUMAN	H	676	ENSP00000356481:L676H	ENSP00000356481:L676H	L	-	2	0	FAM129A	183031494	0.000000	0.05858	0.003000	0.11579	0.060000	0.15804	0.365000	0.20348	0.960000	0.38005	0.402000	0.26972	CTC		TCGA-3A-A9I5-01A-11D-A38G-08	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	1	0	1	32	236	0	85	0	0	0	1	0	85	2	0	0	0	0	0	0		1	1.000000	31	226	0	80	2	0	0	0	0	0	0		-13.283360	1	1	0	0		1	1	3	4	2.628533	1	0.330000	1.980000	0.494988	0.960000	0.680000	1.000000	1.000000	0.924742	0.960000	1	0.810000	1.000000
HMCN1	83872	broad.mit.edu	37	1	186086639	186086639	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:186086639A>T	ENST00000271588.4	+	77	11961	c.11732A>T	c.(11731-11733)cAt>cTt	p.H3911L	HMCN1_ENST00000367492.2_Missense_Mutation_p.H3911L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					GTAACCAAACATGCCCCAGCA	0.438000																								0							SO:0001583	missense			ENST00000271588.4	0	1	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	0.018	-1.476078	0.01035	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	5.65	0.272	0.15645	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499501	0.22254	N	0.062503	T	0.33469	0.0864	N	0.02736	-0.51	0.19945	N	0.999942	B	0.32753	0.383	B	0.34038	0.174	T	0.23013	-1.0200	10	0.23302	T	0.38	.	4.2131	0.10521	0.3639:0.0:0.305:0.3311	.	3911	Q96RW7	HMCN1_HUMAN	L	3911	ENSP00000271588:H3911L;ENSP00000356462:H3911L	ENSP00000271588:H3911L	H	+	2	0	HMCN1	184353262	0.139000	0.22563	0.011000	0.14972	0.269000	0.26545	1.675000	0.37555	0.088000	0.17205	0.533000	0.62120	CAT		TCGA-3A-A9I5-01A-11D-A38G-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	0	5	608	0	125		0	0	0	0	125	2	0	0	0	0	0	0		1	0.934468	5	596	0	123	2	0	0	0	0	0	0		-4.628285	1	0	0	0		1	1	3	4	2.628533	1	0.330000	1.980000	0.494988	0.070000	0.010000	0.160000	0.080000	0.077366	0.070000	0	0.030000	0.110000
CACNA1S	779	broad.mit.edu	37	1	201079298	201079298	+	Silent	SNP	G	G	A	rs112868209	byFrequency	TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:201079298G>A	ENST00000362061.3	-	2	478	c.252C>T	c.(250-252)ctC>ctT	p.L84L	CACNA1S_ENST00000367338.3_Silent_p.L84L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTACCAGGCCGAGGTTCAGAG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000362061.3	1	0	hg19	CCDS1407.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	1	35	256	0	87		0	0	0	0	87	2	0	0	0	0	0	0		1	1.000000	35	250	0	86	2	0	0	0	0	0	0		-2.774700	1	1	121412	208	56	1	1	3	4	2.645065	1	0.330000	1.980000	0.494988	0.970000	0.690000	1.000000	1.000000	0.930179	0.970000	1	0.820000	1.000000
PTPN14	5784	broad.mit.edu	37	1	214557519	214557519	+	Missense_Mutation	SNP	T	T	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr1:214557519T>G	ENST00000366956.5	-	13	1873	c.1679A>C	c.(1678-1680)aAg>aCg	p.K560T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14			58					GAGATAGTTCTTAAGCATGTG	0.652000													Colon(92;557 1424 24372 34121 40073)											0							SO:0001583	missense			ENST00000366956.5	0	1	hg19	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086987	0.55861	.	.	ENSG00000152104	ENST00000366956	T	0.71341	-0.56	5.61	3.29	0.37713	.	0.095764	0.64402	D	0.000001	T	0.65523	0.2699	M	0.61703	1.905	0.80722	D	1	B	0.31383	0.321	B	0.31614	0.133	T	0.62383	-0.6866	10	0.52906	T	0.07	.	9.8328	0.40952	0.0:0.1389:0.0:0.8611	.	560	Q15678	PTN14_HUMAN	T	560	ENSP00000355923:K560T	ENSP00000355923:K560T	K	-	2	0	PTPN14	212624142	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	2.671000	0.46842	0.502000	0.28037	0.528000	0.53228	AAG		TCGA-3A-A9I5-01A-11D-A38G-08	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	0	0	0	6	399	0	135		0	0	0	0	135	2	0	0	0	0	0	0		1	0.963317	6	392	0	123	2	0	0	0	0	0	0		-6.452759	1	1	0	0		1	1	3	4	2.645065	1	0.330000	1.980000	0.494988	0.120000	0.040000	0.260000	0.120000	0.137982	0.120000	0	0.070000	0.190000
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr20:51872260C>T	ENST00000371497.5	+	2	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R752C|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R752C|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2			84			STAD - Stomach adenocarcinoma(23;0.1)		CGTGTCCAGGCGCTACCTGTT	0.512000																								0							SO:0001583	missense			ENST00000371497.5	1	1	hg19	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992826	0.35131	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.50277	0.75;0.75	5.23	5.23	0.72850	.	0.475787	0.23196	N	0.050846	T	0.43144	0.1234	M	0.68317	2.08	0.34997	D	0.755567	P	0.49358	0.923	B	0.34452	0.183	T	0.65709	-0.6102	10	0.87932	D	0	-5.9641	13.7395	0.62838	0.1538:0.8461:0.0:0.0	.	755	Q9NRE2	TSH2_HUMAN	C	755;752;281	ENSP00000360552:R755C;ENSP00000333114:R752C	ENSP00000333114:R752C	R	+	1	0	TSHZ2	51305667	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.499000	0.53310	2.438000	0.82558	0.579000	0.79373	CGC		TCGA-3A-A9I5-01A-11D-A38G-08	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	1	0	1	60	289	0	135	0	0	0	1	0	135	2	0	0	0	0	0	0		1	1.000000	58	281	0	130	2	0	0	0	0	0	0		-20.000000	1	1	121410	1	41	1	1	2	3	2.013415	0	0.330000	1.980000	0.332204	0.990000	0.810000	1.000000	1.000000	0.973289	0.990000	1	0.920000	1.000000
SON	6651	broad.mit.edu	37	21	34925616	34925616	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr21:34925616T>C	ENST00000356577.4	+	3	4554	c.4079T>C	c.(4078-4080)cTg>cCg	p.L1360P	SON_ENST00000290239.6_Missense_Mutation_p.L1360P|SON_ENST00000381679.4_Missense_Mutation_p.L1360P|SON_ENST00000300278.4_Missense_Mutation_p.L1360P|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein			72					ATGGCTGTCCTGGAGTCTTCG	0.572000																								0							SO:0001583	missense			ENST00000356577.4	0	0	hg19	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.596|8.596	0.885735|0.885735	0.17540|0.17540	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.10477|.	3.06;3.06;3.05;2.87|.	5.3|5.3	-0.528|-0.528	0.11905|0.11905	.|.	0.923213|.	0.09101|.	N|.	0.848564|.	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.001;0.0;0.001;0.0;0.001|.	T|T	0.27806|0.27806	-1.0063|-1.0063	10|5	0.02654|.	T|.	1|.	.|.	5.0629|5.0629	0.14566|0.14566	0.4286:0.4019:0.0:0.1695|0.4286:0.4019:0.0:0.1695	.|.	1360;1360;1041;1360;1360|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	P|R	1360|355	ENSP00000348984:L1360P;ENSP00000290239:L1360P;ENSP00000300278:L1360P;ENSP00000371095:L1360P|.	ENSP00000290239:L1360P|.	L|W	+|+	2|1	0|0	SON|SON	33847486|33847486	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.055000|0.055000	0.15305|0.15305	0.101000|0.101000	0.15251|0.15251	0.009000|0.009000	0.14813|0.14813	-0.231000|-0.231000	0.12243|0.12243	CTG|TGG		TCGA-3A-A9I5-01A-11D-A38G-08	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1	36	240	0	131	0	1.858741e-01	1	5	0	131	2	0	0	0	0	0	0		1	1.000000	43	227	0	128	2	0	0	0	0	0	0		-20.000000	1	0	119922	3	34	1	1	2	3	2.011505	0	0.330000	1.980000	0.331104	0.790000	0.570000	1.000000	1.000000	0.798399	0.790000	0	0.670000	0.920000
SON	6651	broad.mit.edu	37	21	34925626	34925626	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr21:34925626G>A	ENST00000356577.4	+	3	4564	c.4089G>A	c.(4087-4089)tcG>tcA	p.S1363S	SON_ENST00000290239.6_Silent_p.S1363S|SON_ENST00000381679.4_Silent_p.S1363S|SON_ENST00000300278.4_Silent_p.S1363S|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein			72					TGGAGTCTTCGGCTGTGACCG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000356577.4	1	0	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	4.547	0.101635	0.08731	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.08	-5.66	0.02451	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.31280	-0.9949	4	.	.	.	.	4.4732	0.11722	0.413:0.0:0.3013:0.2857	.	.	.	.	Q	358	.	.	R	+	2	0	SON	33847496	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.373000	0.07494	-0.705000	0.05035	-0.351000	0.07748	CGG		TCGA-3A-A9I5-01A-11D-A38G-08	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	1	0	1	41	235	0	139	1	5.521144e-01	2	10	0	139	2	0	0	0	0	0	0		1	1.000000	44	225	0	135	2	0	0	0	0	0	0		-2.304577	0	0	0	0		1	1	2	3	2.011505	0	0.330000	1.980000	0.331104	0.900000	0.660000	1.000000	1.000000	0.890716	0.900000	1	0.770000	1.000000
CACNA1I	8911	broad.mit.edu	37	22	40075258	40075258	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:40075258C>T	ENST00000402142.3	+	32	5202	c.5202C>T	c.(5200-5202)gaC>gaT	p.D1734D	CACNA1I_ENST00000400164.3_Silent_p.D1699D|CACNA1I_ENST00000404898.1_Silent_p.D1699D|CACNA1I_ENST00000401624.1_Silent_p.D1734D|CACNA1I_ENST00000336649.4_Silent_p.D1740D|CACNA1I_ENST00000407673.1_Silent_p.D1699D	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCACCTGGACGACAGCAACA	0.642000																								0							SO:0001819	synonymous_variant			ENST00000402142.3	1	1	hg19	CCDS46710.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	1	0	1	9	40	0	32		0	0	0	0	32	2	0	0	0	0	0	0		1	0.994771	9	38	0	32	2	0	0	0	0	0	0		-17.926420	1	1	119886	6	29	1	1	2	3	2.007387	0	0.330000	1.980000	0.331104	0.990000	0.580000	1.000000	1.000000	0.935063	0.990000	1	0.810000	1.000000
SCUBE1	80274	broad.mit.edu	37	22	43625113	43625113	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:43625113C>T	ENST00000360835.4	-	9	1175	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1			31		all_neural(38;0.0414)|Ovarian(80;0.07)			GATGTAGCCGCGGTGACACAG	0.677000											OREG0026614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000360835.4	1	1	hg19	CCDS14048.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.69	2.908995	0.52439	.	.	ENSG00000159307	ENST00000360835	D	0.92199	-2.99	4.96	2.8	0.32819	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.231622	0.41605	N	0.000847	D	0.82660	0.5085	N	0.16862	0.45	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.74990	-0.3475	10	0.51188	T	0.08	.	6.3429	0.21332	0.0:0.567:0.0:0.433	.	350	Q8IWY4	SCUB1_HUMAN	H	350	ENSP00000354080:R350H	ENSP00000354080:R350H	R	-	2	0	SCUBE1	41955057	0.764000	0.28473	0.977000	0.42913	0.412000	0.31113	1.204000	0.32296	0.729000	0.32403	-0.345000	0.07892	CGC		TCGA-3A-A9I5-01A-11D-A38G-08	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	1	0	1	29	108	0	79	0	0	0	1	0	79	2	0	0	0	0	0	0		1	1.000000	28	106	0	77	2	0	0	0	0	0	0		-20.000000	1	1	121314	7	36	1	1	2	3	2.035951	0	0.330000	1.980000	0.338729	0.990000	0.910000	1.000000	1.000000	0.995272	0.990000	1	0.990000	1.000000
ARSA	410	broad.mit.edu	37	22	51064677	51064677	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr22:51064677C>T	ENST00000547307.1	-	5	1283	c.878G>A	c.(877-879)gGc>gAc	p.G293D	ARSA_ENST00000395621.3_Missense_Mutation_p.G295D|ARSA_ENST00000356098.5_Missense_Mutation_p.G295D|ARSA_ENST00000395619.3_Missense_Mutation_p.G295D|ARSA_ENST00000547805.1_Missense_Mutation_p.G293D|ARSA_ENST00000453344.2_Missense_Mutation_p.G209D|ARSA_ENST00000216124.5_Missense_Mutation_p.G295D|ARSA_ENST00000610191.1_5'Flank			P15289	ARSA_HUMAN	arylsulfatase A			9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		Micafungin(DB01141)|Suramin(DB04786)	ACCGGAGCAGCCGCCTCGGGA	0.652000																								0		GRCh37	CM044574	ARSA	M		SO:0001583	missense			ENST00000547307.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	33	5.206728	0.95033	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	5.21	5.21	0.72293	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.096084	0.64402	D	0.000001	D	0.97480	0.9175	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98251	1.0493	10	0.87932	D	0	.	16.2653	0.82574	0.0:1.0:0.0:0.0	.	293	P15289	ARSA_HUMAN	D	295;295;293;293;295;209;295	ENSP00000348406:G295D;ENSP00000216124:G295D;ENSP00000448440:G293D;ENSP00000448932:G293D;ENSP00000378983:G295D;ENSP00000412542:G209D;ENSP00000378981:G295D	ENSP00000216124:G295D	G	-	2	0	ARSA	49411543	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	5.842000	0.69417	2.435000	0.82474	0.609000	0.83330	GGC		TCGA-3A-A9I5-01A-11D-A38G-08	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	3	53	0	30	0	9.849027e-01	0	169	0	30	2	0	0	0	0	0	0		1	0.794736	3	50	0	30	2	0	0	0	0	0	0		-6.883658	1	1	0	0		1	1	2	3	2.035951	0	0.330000	1.980000	0.338729	0.390000	0.110000	1.000000	0.310000	0.446131	0.390000	0	0.220000	0.670000
CASR	846	broad.mit.edu	37	3	121980827	121980827	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:121980827C>T	ENST00000490131.1	+	4	1317	c.945C>T	c.(943-945)ggC>ggT	p.G315G	CASR_ENST00000296154.5_Silent_p.G315G|CASR_ENST00000498619.1_Silent_p.G315G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor			84				Cinacalcet(DB01012)	ACGTGGTTGGCGGCACCATTG	0.587000																								0							SO:0001819	synonymous_variant			ENST00000490131.1	0	1	hg19	CCDS3010.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	0	0	0	4	257	1	88	0	4.320774e-04	0	2	1	88	2	0	0	0	0	0	0		0	0.034353	4	255	1	86	12	0	0	0	0	0	0		-3.004119	1	1	0	0		1	0	0	0	1.989794	0	0.330000	1.980000	0.325549	0.100000	0.020000	0.220000	0.090000	0.113549	0.100000	0	0.050000	0.160000
XRN1	54464	broad.mit.edu	37	3	142151540	142151540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:142151540G>A	ENST00000264951.4	-	2	388	c.271C>T	c.(271-273)Cga>Tga	p.R91*	XRN1_ENST00000463916.1_Nonsense_Mutation_p.R91*|XRN1_ENST00000544157.1_5'UTR|XRN1_ENST00000392981.2_Nonsense_Mutation_p.R91*|XRN1_ENST00000465074.1_5'Flank	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	p.R91*(1)		61					ATTTTTGCTCGAGGAGCCACA	0.338000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000264951.4	0	1	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683679	0.68157	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916	.	.	.	5.94	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7693	13.4404	0.61109	0.0:0.0:0.6797:0.3203	.	.	.	.	X	91	.	ENSP00000264951:R91X	R	-	1	2	XRN1	143634230	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	3.127000	0.50484	2.816000	0.96949	0.561000	0.74099	CGA		TCGA-3A-A9I5-01A-11D-A38G-08	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	1	0	1	17	136	0	77	0	0	0	1	0	77	2	0	0	0	0	0	0		1	0.999972	17	134	0	77	2	0	0	0	0	0	0		-19.999990	1	1	0	0		1	0	0	0	1.989794	0	0.330000	1.980000	0.325549	0.670000	0.410000	0.990000	1.000000	0.687540	0.670000	0	0.530000	0.830000
TNIK	23043	broad.mit.edu	37	3	170811703	170811703	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:170811703C>T	ENST00000436636.2	-	23	2990	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	TNIK_ENST00000538048.1_Silent_p.T834T|TNIK_ENST00000341852.6_Silent_p.T798T|TNIK_ENST00000470834.1_Silent_p.T845T|TNIK_ENST00000460047.1_Silent_p.T819T|TNIK_ENST00000475336.1_Silent_p.T790T|TNIK_ENST00000369326.5_Silent_p.T860T|TNIK_ENST00000488470.1_Silent_p.T827T|TNIK_ENST00000357327.5_Silent_p.T853T|TNIK_ENST00000284483.8_Silent_p.T874T	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase			62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		CCAGCCCATGCGTCCCCACCA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000436636.2	0	1	hg19	CCDS46956.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	0	0	0	4	186	0	83	0	0	0	1	0	83	2	0	0	0	0	0	0		1	0.882216	4	179	0	79	2	0	0	0	0	0	0		-3.252775	1	1	121016	10	40	1	0	0	0	1.989794	0	0.330000	1.980000	0.325549	0.130000	0.040000	0.300000	0.120000	0.155085	0.130000	0	0.080000	0.220000
EPHB3	2049	broad.mit.edu	37	3	184294634	184294634	+	Silent	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:184294634G>T	ENST00000330394.2	+	5	1469	c.1017G>T	c.(1015-1017)gtG>gtT	p.V339V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3			51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		TCACAGCCGTGCCATCTCCAC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000330394.2	1	1	hg19	CCDS3268.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	1	0	0	27	176	0	114	1	1.425224e-01	2	3	0	114	2	0	0	0	0	0	0		1	1.000000	27	173	0	113	2	0	0	0	0	0	0		-13.856190	1	1	0	0		1	0	0	0	1.989794	0	0.330000	1.980000	0.325549	0.800000	0.540000	1.000000	1.000000	0.806072	0.800000	0	0.660000	0.950000
ROBO2	6092	broad.mit.edu	37	3	77684144	77684144	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr3:77684144G>A	ENST00000461745.1	+	24	4784	c.3884G>A	c.(3883-3885)cGg>cAg	p.R1295Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.R1311Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.R1356Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)			117					AAGGGAGGGCGGATGGACCAA	0.517000																								0							SO:0001583	missense			ENST00000461745.1	1	1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346305	0.61073	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	T;T;T	0.63096	0.01;0.05;-0.02	5.34	4.45	0.53987	.	0.224186	0.21846	N	0.068253	T	0.34832	0.0911	N	0.08118	0	0.28032	N	0.934087	B;P;B	0.46327	0.196;0.876;0.196	B;B;B	0.28784	0.016;0.094;0.016	T	0.54227	-0.8325	9	0.36615	T	0.2	.	14.9245	0.70866	0.0725:0.0:0.9275:0.0	.	1311;1356;1295	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	1311;1311;1295;1356	ENSP00000417335:R1311Q;ENSP00000417164:R1295Q;ENSP00000327536:R1356Q	ENSP00000327536:R1356Q	R	+	2	0	ROBO2	77766834	0.998000	0.40836	0.981000	0.43875	0.987000	0.75469	4.160000	0.58164	2.664000	0.90586	0.650000	0.86243	CGG		TCGA-3A-A9I5-01A-11D-A38G-08	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	1	0	1	38	139	0	85	0	4.788214e-02	0	2	0	85	2	0	0	0	0	0	0		1	1.000000	38	135	0	84	2	0	0	0	0	0	0		-3.418639	1	1	120926	1	38	1	0	1	1	1.682018	1	0.330000	1.980000	0.200763	0.930000	0.740000	1.000000	1.000000	0.925005	0.930000	1	0.840000	1.000000
EGF	1950	broad.mit.edu	37	4	110909769	110909769	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:110909769G>A	ENST00000265171.5	+	18	3083	c.2638G>A	c.(2638-2640)Gtg>Atg	p.V880M	EGF_ENST00000503392.1_Missense_Mutation_p.V880M|EGF_ENST00000509793.1_Missense_Mutation_p.V838M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor			50		Hepatocellular(203;0.0893)		Sucralfate(DB00364)	GGGTGTCCCAGTGTGCCCCCC	0.463000																								0							SO:0001583	missense			ENST00000265171.5	1	1	hg19	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129552	0.37630	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	T;D;D	0.92199	1.97;-2.99;-2.99	5.25	3.48	0.39840	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.815723	0.11241	N	0.584665	D	0.88355	0.6414	N	0.25245	0.725	0.09310	N	1	P;P;P	0.51537	0.946;0.883;0.946	P;P;P	0.48840	0.592;0.456;0.592	T	0.79085	-0.1948	10	0.44086	T	0.13	.	9.6075	0.39643	0.0927:0.2322:0.6751:0.0	.	880;838;880	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	M	838;880;880	ENSP00000424316:V838M;ENSP00000265171:V880M;ENSP00000421384:V880M	ENSP00000265171:V880M	V	+	1	0	EGF	111129218	0.000000	0.05858	0.007000	0.13788	0.055000	0.15305	-0.548000	0.06048	1.206000	0.43276	0.655000	0.94253	GTG		TCGA-3A-A9I5-01A-11D-A38G-08	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	1	0	1	134	566	0	271		0	0	0	0	271	2	0	0	0	0	0	0		1	1.000000	131	557	0	259	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.706221	1	0.330000	1.980000	0.199187	0.930000	0.810000	1.000000	1.000000	0.934210	0.930000	1	0.870000	0.990000
ARHGAP10	79658	broad.mit.edu	37	4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10			33	all_hematologic(180;0.151)	Renal(17;0.0166)			TTGCAGGGGGACGGAGAGGTG	0.408000																								0							SO:0001583	missense			ENST00000336498.3	0	1	hg19	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368824	0.24771	.	.	ENSG00000071205	ENST00000336498	T	0.40756	1.02	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.053409	0.85682	D	0.000000	T	0.38692	0.1050	L	0.56769	1.78	0.80722	D	1	B	0.31026	0.304	B	0.29077	0.098	T	0.19257	-1.0311	10	0.19590	T	0.45	.	14.2898	0.66270	1.0:0.0:0.0:0.0	.	315	A1A4S6	RHG10_HUMAN	G	315	ENSP00000336923:D315G	ENSP00000336923:D315G	D	+	2	0	ARHGAP10	149022443	1.000000	0.71417	0.826000	0.32828	0.073000	0.16967	8.306000	0.89962	1.853000	0.53794	0.482000	0.46254	GAC		TCGA-3A-A9I5-01A-11D-A38G-08	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	0	0	0	7	430	1	181	0	5.262456e-03	0	6	1	181	2	0	0	0	0	0	0		0	0.302570	7	425	1	177	10	0	0	0	0	0	0		-2.059807	0	1	0	0		1	1	2	3	2.077278	0	0.330000	1.980000	0.343008	0.100000	0.040000	1.000000	0.100000	0.197957	0.100000	0	0.070000	0.180000
IRF2	3660	broad.mit.edu	37	4	185339858	185339858	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr4:185339858C>A	ENST00000393593.3	-	4	399	c.192G>T	c.(190-192)aaG>aaT	p.K64N	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2			22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)			CTGGTTGATGCTTTCCTAACA	0.378000																								0							SO:0001583	missense			ENST00000393593.3	1	1	hg19	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711954	0.68730	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	5.26	5.26	0.73747	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.98529	0.9509	M	0.66297	2.02	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98597	1.0657	10	0.87932	D	0	-8.3921	12.7922	0.57541	0.0:0.9154:0.0:0.0846	.	64	P14316	IRF2_HUMAN	N	64	ENSP00000377218:K64N;ENSP00000427204:K64N;ENSP00000424552:K64N;ENSP00000422860:K64N	ENSP00000377218:K64N	K	-	3	2	IRF2	185576852	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.950000	0.40323	2.740000	0.93945	0.561000	0.74099	AAG		TCGA-3A-A9I5-01A-11D-A38G-08	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1	0	0	1	26	102	0	71	1	9.272120e-01	16	4	0	71	2	0	0	0	0	0	0		1	1.000000	27	101	0	70	2	0	0	0	0	0	0		-17.877970	1	1	0	0		1	0	1	1	1.736724	1	0.330000	1.980000	0.203897	0.910000	0.660000	1.000000	1.000000	0.898734	0.910000	1	0.790000	1.000000
FGFR4	2264	broad.mit.edu	37	5	176523645	176523645	+	Missense_Mutation	SNP	G	G	A	rs67419797		TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr5:176523645G>A	ENST00000292408.4	+	16	2301	c.2056G>A	c.(2056-2058)Ggg>Agg	p.G686R	FGFR4_ENST00000393637.1_Missense_Mutation_p.G646R|FGFR4_ENST00000393648.2_Missense_Mutation_p.G618R|FGFR4_ENST00000292410.3_Missense_Mutation_p.G646R|FGFR4_ENST00000502906.1_Missense_Mutation_p.G686R	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4			34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Palifermin(DB00039)|Ponatinib(DB08901)	CTTCACCCTCGGGGGCTCCCC	0.667000										TSP Lung(9;0.080)														0							SO:0001583	missense			ENST00000292408.4	0	1	hg19	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	g	28.1	4.892229	0.91889	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	4.19	4.19	0.49359	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97231	0.9884	10	0.87932	D	0	.	16.1407	0.81519	0.0:0.0:1.0:0.0	.	618;646;686	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	R	686;618;686;646;646;914	ENSP00000292408:G686R;ENSP00000377259:G618R;ENSP00000424960:G686R;ENSP00000292410:G646R;ENSP00000377254:G646R	ENSP00000292408:G686R	G	+	1	0	FGFR4	176456251	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.855000	0.99526	1.891000	0.54761	0.556000	0.70494	GGG		TCGA-3A-A9I5-01A-11D-A38G-08	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1	0	0	0	5	454	0	214	1	9.738470e-01	21	599	0	214	2	0	0	0	0	0	0		1	0.933411	5	442	0	205	2	0	0	0	0	0	0		-3.193129	1	0	0	0		1	0	1	1	2.005941	0	0.330000	1.980000	0.328893	0.060000	0.020000	0.150000	0.060000	0.078401	0.060000	0	0.040000	0.110000
VGLL2	245806	broad.mit.edu	37	6	117593645	117593645	+	Silent	SNP	C	C	G			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:117593645C>G	ENST00000326274.5	+	4	1132	c.942C>G	c.(940-942)tcC>tcG	p.S314S	VGLL2_ENST00000352536.3_Silent_p.S140S	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2			5					GTGGTGCATCCCTCCTGAGCT	0.542000																								0							SO:0001819	synonymous_variant			ENST00000326274.5	1	1	hg19	CCDS5115.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	1	0	1	158	1012	0	598		0	0	0	0	598	2	0	0	0	0	0	0		1	1.000000	155	990	0	585	2	0	0	0	0	0	0		-20.000000	1	1	121412	1	38	1	0	0	0	1.984916	0	0.330000	1.980000	0.321038	0.800000	0.690000	0.920000	0.810000	0.809872	0.800000	0	0.740000	0.870000
LATS1	9113	broad.mit.edu	37	6	150004721	150004721	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:150004721G>A	ENST00000543571.1	-	4	2051	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C	LATS1_ENST00000392273.3_Missense_Mutation_p.R502C|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.R502C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1	p.R502C(1)		6		Ovarian(120;0.0164)			TTTAATACACGCATACTTTTC	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000543571.1	1	1	hg19	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285733	0.59867	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.58358	0.34;0.34;2.51	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.65048	0.2654	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.999	T	0.64296	-0.6441	9	.	.	.	.	14.635	0.68682	0.0:0.0:0.8543:0.1457	.	354;502;502	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	C	502	ENSP00000437550:R502C;ENSP00000253339:R502C;ENSP00000444678:R502C	.	R	-	1	0	LATS1	150046414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.163000	0.71880	2.767000	0.95098	0.655000	0.94253	CGT		TCGA-3A-A9I5-01A-11D-A38G-08	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	1	0	1	82	500	0	263	0	2.040745e-02	0	2	0	263	2	0	0	0	0	0	0		1	1.000000	80	493	0	260	2	0	0	0	0	0	0		-3.318846	1	1	0	0		1	0	0	0	1.984916	0	0.330000	1.980000	0.321038	0.830000	0.670000	1.000000	1.000000	0.845232	0.830000	0	0.750000	0.930000
DST	667	broad.mit.edu	37	6	56469950	56469950	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469950G>A	ENST00000361203.3	-	36	8850	c.8843C>T	c.(8842-8844)tCg>tTg	p.S2948L	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3126L|DST_ENST00000446842.2_Missense_Mutation_p.S2622L|DST_ENST00000312431.6_Missense_Mutation_p.S2948L|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S2948L			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		CCCTTCCCACGATGTAATGTC	0.333000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.894	0.166106	0.09339	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.81499	0.01;0.01;0.96;-1.5;-0.0;-0.36	4.75	-3.65	0.04502	.	2.471330	0.02034	N	0.048788	T	0.53658	0.1810	.	.	.	0.24495	N	0.994285	B	0.06786	0.001	B	0.04013	0.001	T	0.49781	-0.8903	8	0.46703	T	0.11	.	11.9841	0.53135	0.4817:0.0:0.5183:0.0	.	2622	Q03001-9	.	L	3126;2948;2622;2948;2948;2622	ENSP00000359790:S3126L;ENSP00000359805:S2948L;ENSP00000393645:S2622L;ENSP00000307959:S2948L;ENSP00000354508:S2948L;ENSP00000404924:S2622L	ENSP00000307959:S2948L	S	-	2	0	DST	56577909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.126000	0.10563	-0.441000	0.07201	-1.648000	0.00760	TCG		TCGA-3A-A9I5-01A-11D-A38G-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	0	20	139	0	52		0	0	0	0	52	2	0	0	0	0	0	0		1	0.999996	20	135	0	51	2	0	0	0	0	0	0		-3.322624	1	1	0	0		1	0	0	0	1.984916	0	0.330000	1.980000	0.321038	0.750000	0.480000	1.000000	1.000000	0.763236	0.750000	0	0.600000	0.920000
DST	667	broad.mit.edu	37	6	56469951	56469951	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr6:56469951A>T	ENST00000361203.3	-	36	8849	c.8842T>A	c.(8842-8844)Tcg>Acg	p.S2948T	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.S3126T|DST_ENST00000446842.2_Missense_Mutation_p.S2622T|DST_ENST00000312431.6_Missense_Mutation_p.S2948T|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S2948T			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		CCTTCCCACGATGTAATGTCT	0.333000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	7.748	0.702815	0.15172	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.82526	-0.1;-0.1;0.84;-1.62;-0.13;-0.49	4.44	-2.96	0.05547	.	2.471330	0.02034	N	0.048788	T	0.52338	0.1728	.	.	.	0.21473	N	0.999676	B	0.24721	0.11	B	0.24848	0.056	T	0.48692	-0.9013	8	0.36615	T	0.2	.	5.9227	0.19091	0.4464:0.3912:0.1624:0.0	.	2622	Q03001-9	.	T	3126;2948;2622;2948;2948;2622	ENSP00000359790:S3126T;ENSP00000359805:S2948T;ENSP00000393645:S2622T;ENSP00000307959:S2948T;ENSP00000354508:S2948T;ENSP00000404924:S2622T	ENSP00000307959:S2948T	S	-	1	0	DST	56577910	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.411000	0.21115	-0.581000	0.05937	-0.256000	0.11100	TCG		TCGA-3A-A9I5-01A-11D-A38G-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	0	1	21	136	0	53		0	0	0	0	53	2	0	0	0	0	0	0		1	0.999998	20	132	0	52	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.984916	0	0.330000	1.980000	0.321038	0.800000	0.520000	1.000000	1.000000	0.804284	0.800000	0	0.650000	0.970000
KBTBD2	25948	broad.mit.edu	37	7	32909811	32909811	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr7:32909811G>T	ENST00000304056.4	-	4	1717	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2			17			GBM - Glioblastoma multiforme(11;0.0499)		GCAGTCTGAAGTTTGCTTGTT	0.403000																								0							SO:0001583	missense			ENST00000304056.4	1	1	hg19	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	3.828	-0.036369	0.07497	.	.	ENSG00000170852	ENST00000304056;ENST00000537125	T	0.67345	-0.26	5.65	1.87	0.25490	Kelch-type beta propeller (1);	0.248699	0.40554	N	0.001063	T	0.58293	0.2112	L	0.54323	1.7	0.41608	D	0.988898	B	0.06786	0.001	B	0.06405	0.002	T	0.52555	-0.8560	10	0.45353	T	0.12	.	10.35	0.43929	0.2573:0.0:0.7427:0.0	.	340	Q8IY47	KBTB2_HUMAN	I	340;147	ENSP00000302586:L340I	ENSP00000302586:L340I	L	-	1	0	KBTBD2	32876336	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.583000	0.46094	0.140000	0.18849	-0.339000	0.08088	CTT		TCGA-3A-A9I5-01A-11D-A38G-08	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	1	0	1	102	589	0	225	1	7.930838e-01	5	14	0	225	2	0	0	0	0	0	0		1	1.000000	102	576	0	223	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.998491	0	0.330000	1.980000	0.327782	0.880000	0.730000	1.000000	1.000000	0.890866	0.880000	1	0.800000	0.970000
EGR3	1960	broad.mit.edu	37	8	22550452	22550452	+	Silent	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:22550452G>A	ENST00000317216.2	-	1	363	c.6C>T	c.(4-6)acC>acT	p.T2T	EGR3_ENST00000519492.1_Silent_p.T2T|EGR3_ENST00000522910.1_5'Flank|EGR3_ENST00000524088.1_5'Flank|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3			10		Prostate(55;0.0421)|Breast(100;0.102)			CGAGTTTGCCGGTCATAGCAC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000317216.2	0	1	hg19	CCDS6033.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	0	0	0	4	127	0	94	0	9.417016e-03	0	4	0	94	2	0	0	0	0	0	0		1	0.887900	4	125	0	92	2	0	0	0	0	0	0		-6.781042	1	1	0	0		1	0	1	1	1.713682	1	0.330000	1.980000	0.208552	0.170000	0.050000	0.360000	0.150000	0.187335	0.170000	0	0.100000	0.260000
ANK1	286	broad.mit.edu	37	8	41573238	41573238	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr8:41573238G>A	ENST00000347528.4	-	14	1617	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	ANK1_ENST00000396945.1_Missense_Mutation_p.R512C|ANK1_ENST00000289734.7_Missense_Mutation_p.R512C|ANK1_ENST00000396942.1_Missense_Mutation_p.R512C|ANK1_ENST00000379758.2_Missense_Mutation_p.R512C|ANK1_ENST00000352337.4_Missense_Mutation_p.R512C|ANK1_ENST00000265709.8_Missense_Mutation_p.R545C	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic			122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		TGGCCCTCACGGGCTGCAATG	0.607000																								0							SO:0001583	missense			ENST00000347528.4	1	1	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162987	0.57476	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	6.03	6.03	0.97812	Ankyrin repeat-containing domain (3);	0.059791	0.64402	D	0.000002	T	0.80565	0.4647	M	0.69185	2.1	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.703;0.997;1.0	D;D;B;P;D	0.79108	0.992;0.98;0.108;0.68;0.992	T	0.81284	-0.1002	10	0.87932	D	0	.	15.9973	0.80260	0.0:0.0:0.8649:0.1351	.	545;512;512;512;512	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	C	512;512;512;512;512;512;545;512	ENSP00000339620:R512C;ENSP00000289734:R512C;ENSP00000369082:R512C;ENSP00000380149:R512C;ENSP00000380147:R512C;ENSP00000309131:R512C;ENSP00000265709:R545C	ENSP00000265709:R545C	R	-	1	0	ANK1	41692395	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	5.396000	0.66297	2.868000	0.98415	0.555000	0.69702	CGT		TCGA-3A-A9I5-01A-11D-A38G-08	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1	35	287	0	123		0	0	0	0	123	2	0	0	0	0	0	0		1	1.000000	35	282	0	117	2	0	0	0	0	0	0		-2.402343	0	1	121412	4	41	1	1	2	3	2.314498	1	0.330000	1.980000	0.414105	0.770000	0.540000	1.000000	1.000000	0.789304	0.770000	0	0.640000	0.960000
RPL7A	6130	broad.mit.edu	37	9	136218131	136218131	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:136218131G>T	ENST00000323345.6	+	8	741	c.711G>T	c.(709-711)tgG>tgT	p.W237C	RPL7A_ENST00000463740.1_3'UTR|SNORD36A_ENST00000362874.1_RNA|SURF1_ENST00000495952.1_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.W122C|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|SNORD36B_ENST00000363961.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a			7					GCCGTCACTGGGGTGGCAATG	0.453000																								0							SO:0001583	missense			ENST00000323345.6	0	1	hg19	CCDS6965.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814931	0.32053	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.70164	0.06;-0.46	5.29	5.29	0.74685	.	0.057096	0.85682	D	0.000000	D	0.85256	0.5655	H	0.97783	4.075	0.80722	D	1	P	0.37997	0.614	P	0.47044	0.535	D	0.89670	0.3883	10	0.87932	D	0	.	17.9044	0.88914	0.0:0.0:1.0:0.0	.	237	P62424	RL7A_HUMAN	C	237;122	ENSP00000361076:W237C;ENSP00000361071:W122C	ENSP00000361071:W122C	W	+	3	0	RPL7A	135207952	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	9.081000	0.94049	2.481000	0.83766	0.561000	0.74099	TGG		TCGA-3A-A9I5-01A-11D-A38G-08	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054869.1	0	0	0	4	175	0	93	0	1	0	7735	0	93	2	0	0	0	0	0	0		1	0.887285	4	172	0	91	2	0	0	0	0	0	0		-2.695887	1	1	0	0		1	1	2	3	2.011654	0	0.330000	1.980000	0.331104	0.150000	0.040000	0.340000	0.140000	0.165813	0.150000	0	0.080000	0.240000
KIF27	55582	broad.mit.edu	37	9	86498835	86498835	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chr9:86498835T>A	ENST00000297814.2	-	10	2481	c.2338A>T	c.(2338-2340)Aag>Tag	p.K780*	KIF27_ENST00000334204.2_Nonsense_Mutation_p.K780*|KIF27_ENST00000413982.1_Nonsense_Mutation_p.K780*|KIF27_ENST00000376347.1_Nonsense_Mutation_p.K171*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27			43					TGTAGCTGCTTTTGTGTTTCA	0.388000																								0							SO:0001587	stop_gained			ENST00000297814.2	0	1	hg19	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	T	40	8.370270	0.98781	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204;ENST00000376347	.	.	.	5.36	5.36	0.76844	.	0.093400	0.45126	D	0.000388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3543	0.74415	0.0:0.0:0.0:1.0	.	.	.	.	X	780;780;780;171	.	ENSP00000297814:K780X	K	-	1	0	KIF27	85688655	1.000000	0.71417	0.992000	0.48379	0.954000	0.61252	3.791000	0.55469	2.022000	0.59522	0.477000	0.44152	AAG		TCGA-3A-A9I5-01A-11D-A38G-08	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	1	0	0	26	537	0	203	0	2.364051e-03	0	2	0	203	2	0	0	0	0	0	0		1	0.992695	26	527	1	196	12	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.011654	0	0.330000	1.980000	0.331104	0.280000	0.180000	0.410000	0.280000	0.289062	0.280000	0	0.220000	0.340000
DMD	1756	broad.mit.edu	37	X	32867854	32867854	+	Silent	SNP	C	C	T			TCGA-3A-A9I5-01A-11D-A38G-08	TCGA-3A-A9I5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242cc845-981e-4772-af88-8e6ce84038ee	e3d88c3f-250b-4419-be51-02552fe0d73e	g.chrX:32867854C>T	ENST00000357033.4	-	3	383	c.177G>A	c.(175-177)ggG>ggA	p.G59G	DMD_ENST00000288447.4_Silent_p.G51G|snoU13_ENST00000459244.1_RNA|DMD_ENST00000378677.2_Silent_p.G55G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin			77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)			CCAGTTTTTGCCCTGTCAGGC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000357033.4	0	1	hg19	CCDS14233.1																																																																																				TCGA-3A-A9I5-01A-11D-A38G-08	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	0	0	0	4	160	0	76		0	0	0	0	76	2	0	0	0	0	0	0		1	0.886972	4	157	0	75	2	0	0	0	0	0	0		-2.594059	1	1	0	0		1	0	1	1			0.330000	1.980000	0.330000	0.070000	0.020000	0.170000	0.070000	0.090142	0.070000	0	0.040000	0.130000
