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
CTNNA3	29119	broad.mit.edu	37	10	68940142	68940142	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr10:68940142C>T	ENST00000433211.2	-	7	1154	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	CTNNA3_ENST00000545309.1_Missense_Mutation_p.R327Q|CTNNA3_ENST00000373744.4_Missense_Mutation_p.R327Q	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3	p.R327Q(2)		95					TGCGATAATCCGCTCTCGGTG	0.517000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000433211.2	1	1	hg19	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	33.000000	5.199060	0.949970	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.38722	1.45;1.45;1.12	5.830000	5.830000	0.931110	.	0.000000	0.46442	D	0.000281	T	0.64811	0.2632	M	0.67700	2.07	0.492130	D	0.999767	D;D;D;D	0.89917	1.0;1.0;0.984;0.998	D;D;P;D	0.87578	0.998;0.998;0.889;0.992	T	0.61816	-0.6985	10	0.45353	T	0.12	-7.9917	18.881400	0.923570	0.0:1.0:0.0:0.0	.	327;327;327;327	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	Q	327	ENSP00000389714:R327Q;ENSP00000362849:R327Q;ENSP00000441444:R327Q	ENSP00000362849:R327Q	R	-	2	0	CTNNA3	68610148	1.000000	0.71417	9.950000e-01	0.509660	0.937000	0.578000	6.079000	0.71291	2.753000	0.944830	0.585000	0.799380	CGG		TCGA-HZ-8317-01A-11D-2396-08	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	0	0	0	17	453	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.999963	17	448	0	67	2								-2.788331	1	1	121400	1	29	1	1	2	3	2.005453	0	0.120000	2	0.125770	0.630000	0.370000	1.000000	0.600000	0.662434	0.630000	0	0.480000	0.850000
GRIK4	2900	broad.mit.edu	37	11	120838027	120838027	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:120838027C>T	ENST00000527524.2	+	19	2677	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A797V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4			69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)			GATCACAGAGCTAAAGGTAAG	0.522000																								0							SO:0001583	missense			ENST00000527524.2	0	1	hg19	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	35.000000	5.503700	0.963710	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.54479	0.57;0.57	5.410000	5.410000	0.785170	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.64676	1.99	0.807220	D	1.000000	D	0.76494	0.999	D	0.74023	0.982	T	0.73678	-0.3907	10	0.87932	D	0	.	18.790500	0.919730	0.0:1.0:0.0:0.0	.	797	Q16099	GRIK4_HUMAN	V	797	ENSP00000435648:A797V;ENSP00000404063:A797V	ENSP00000404063:A797V	A	+	2	0	GRIK4	120343237	1.000000	0.71417	1	0.803570	0.995000	0.863560	6.032000	0.70918	2.537000	0.855490	0.563000	0.778840	GCT		TCGA-HZ-8317-01A-11D-2396-08	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	0	0	0	6	246	1	36		0	0	0	1	36	2		0	0	0	0	0	2	0	0.002207	6	245	1	36	21								-7.284224	1	1	0	0		1	1	2	3	2.007412	0	0.120000	2	0.126291	0.440000	0.180000	1.000000	0.390000	0.502783	0.440000	0	0.290000	0.720000
LDHC	3948	broad.mit.edu	37	11	18467784	18467784	+	Silent	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:18467784G>T	ENST00000541669.1	+	7	849	c.738G>T	c.(736-738)ggG>ggT	p.G246G	LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000280704.4_Silent_p.G246G|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Silent_p.G232G			P07864	LDHC_HUMAN	lactate dehydrogenase C			24					AGCTGAAGGGGTATACCTCTT	0.378000																								0							SO:0001819	synonymous_variant			ENST00000541669.1	1	1	hg19	CCDS7840.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	0	0	0	25	679	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1.000000	25	672	0	102	2								-3.697135	1	1	0	0		1	1	2	3	2.007412	0	0.120000	2	0.126291	0.610000	0.400000	1.000000	0.590000	0.649536	0.610000	0	0.490000	0.790000
OR52A1	23538	broad.mit.edu	37	11	5173196	5173196	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:5173196G>A	ENST00000380367.1	-	2	821	c.404C>T	c.(403-405)gCc>gTc	p.A135V	OR52A1_ENST00000328942.1_Missense_Mutation_p.A135V			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1			19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)			GAAGATGTTGGCATGTCTTAG	0.498000																								0							SO:0001583	missense			ENST00000380367.1	1	1	hg19	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	G	12.380000	1.919421	0.339080	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00411	7.53;7.53	5.280000	3.380000	0.387090	GPCR, rhodopsin-like superfamily (1);	0.674735	0.13640	N	0.373031	T	0.00496	0.0016	M	0.68952	2.095	0.093100	N	1.000000	P	0.42161	0.772	B	0.38842	0.283	T	0.49862	-0.8894	10	0.87932	D	0	.	14.459800	0.674400	0.0:0.3045:0.6955:0.0	.	135	Q9UKL2	O52A1_HUMAN	V	135	ENSP00000369725:A135V;ENSP00000333684:A135V	ENSP00000333684:A135V	A	-	2	0	OR52A1	5129772	0.000000	0.05858	2.200000e-02	0.168110	0.311000	0.279550	0.180000	0.16860	0.765000	0.332210	0.591000	0.815410	GCC		TCGA-HZ-8317-01A-11D-2396-08	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	0	0	0	11	259	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.998362	11	257	0	46	2								-3.276522	1	1	121412	7	37	1	1	2	3	2.007412	0	0.120000	2	0.126291	0.720000	0.370000	1.000000	1.000000	0.738210	0.720000	0	0.520000	1.000000
STK33	65975	broad.mit.edu	37	11	8486310	8486310	+	Silent	SNP	C	C	T	rs1446464	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr11:8486310C>T	ENST00000447869.1	-	3	1317	c.399G>A	c.(397-399)gcG>gcA	p.A133A	STK33_ENST00000534493.1_Silent_p.A92A|STK33_ENST00000315204.1_Silent_p.A133A|STK33_ENST00000396673.1_Silent_p.A133A|STK33_ENST00000396672.1_Silent_p.A133A|STK33_ENST00000358872.3_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	p.A133A(1)		23					CCTTGTCTGTCGCTTCAATGA	0.393000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000447869.1	1	0	hg19	CCDS7789.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	1	0	0	30	620	0	61	0	1.757860e-01	0	16	0	61	2		0	0	0	0	0	2	1	1.000000	30	612	0	60	2								-2.148813	0	1	0	0		1	1	2	3	2.007412	0	0.120000	2	0.126291	0.790000	0.540000	1.000000	1.000000	0.805205	0.790000	0	0.650000	1.000000
DDX11	1663	broad.mit.edu	37	12	31256819	31256819	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:31256819C>G	ENST00000407793.2	+	27	3016	c.2765C>G	c.(2764-2766)cCg>cGg	p.P922R	DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.P922R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000542838.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11			57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)				TTGTCCTGCCCGCTGGAGACA	0.607000										Multiple Myeloma(12;0.14)														0							SO:0001583	missense			ENST00000407793.2	0	1	hg19	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	3.745000	-0.052757	0.073620	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.73152	-0.72;-0.72	1.320000	0.398000	0.163190	.	.	.	.	.	T	0.44435	0.1293	N	0.08118	0	0.093100	N	0.999997	B	0.29232	0.238	B	0.27608	0.081	T	0.30416	-0.9979	9	0.41790	T	0.15	.	3.888700	0.091100	0.0:0.756:0.0:0.244	.	922	Q96FC9	DDX11_HUMAN	R	922	ENSP00000384703:P922R;ENSP00000440402:P922R	ENSP00000384703:P922R	P	+	2	0	DDX11	31148086	0.000000	0.05858	1.000000e-02	0.147220	0.007000	0.059690	-0.158000	0.10070	0.136000	0.187330	-1.250000	0.015140	CCG		TCGA-HZ-8317-01A-11D-2396-08	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	0	0	0	13	357	0	76	1	2.013004e-01	3	18	0	76	2		0	0	0	0	0	2	1	0.999529	13	354	0	76	2								-2.410988	0	1	0	0		1	0	1	1	1.999956	0	0.120000	2	0.115222	0.590000	0.330000	0.930000	0.570000	0.609678	0.590000	0	0.440000	0.760000
KCNA1	3736	broad.mit.edu	37	12	5021286	5021286	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:5021286G>A	ENST00000382545.3	+	2	1849	c.742G>A	c.(742-744)Gac>Aac	p.D248N	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)			63				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CAGCAAGACGGACTTCTTCAA	0.493000																								0							SO:0001583	missense			ENST00000382545.3	1	1	hg19	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	11.100000	1.538245	0.274750	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97256	-4.31	4.970000	4.970000	0.658230	Ion transport (1);	0.124139	0.56097	D	0.000038	D	0.94059	0.8096	L	0.31664	0.95	0.416050	D	0.988877	B	0.16603	0.018	B	0.25759	0.063	D	0.90746	0.4653	10	0.19590	T	0.45	.	17.772800	0.884970	0.0:0.0:1.0:0.0	.	248	Q09470	KCNA1_HUMAN	N	248	ENSP00000371985:D248N	ENSP00000228858:D248N	D	+	1	0	KCNA1	4891547	1.000000	0.71417	9.990000e-01	0.593770	0.998000	0.957120	7.661000	0.83786	2.735000	0.937410	0.655000	0.942530	GAC		TCGA-HZ-8317-01A-11D-2396-08	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	0	0	17	514	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.999960	17	505	0	67	2								-15.019970	1	1	0	0		1	0	1	1	1.995546	0	0.120000	2	0.114153	0.530000	0.320000	0.800000	0.520000	0.550898	0.530000	0	0.410000	0.670000
LRP1	4035	broad.mit.edu	37	12	57606324	57606324	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:57606324G>A	ENST00000243077.3	+	89	14087	c.13621G>A	c.(13621-13623)Gac>Aac	p.D4541N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGAGATAGGGGACCCCTTGGC	0.677000																								0							SO:0001583	missense			ENST00000243077.3	0	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	20.400000	3.978696	0.743600	.	.	ENSG00000123384	ENST00000243077	D	0.91068	-2.78	4.660000	4.660000	0.583980	.	0.000000	0.56097	D	0.000037	D	0.85932	0.5812	L	0.44542	1.39	0.807220	D	1.000000	B	0.27498	0.18	B	0.24848	0.056	D	0.84674	0.0713	10	0.66056	D	0.02	.	10.706400	0.459580	0.0925:0.0:0.9075:0.0	.	4541	Q07954	LRP1_HUMAN	N	4541	ENSP00000243077:D4541N	ENSP00000243077:D4541N	D	+	1	0	LRP1	55892591	1.000000	0.71417	1	0.803570	0.997000	0.918780	7.464000	0.80887	2.403000	0.816810	0.491000	0.489740	GAC		TCGA-HZ-8317-01A-11D-2396-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	0	0	0	9	324	0	42	1	9.970539e-01	6	375	0	42	2		0	0	0	0	0	2	1	0.994303	9	323	0	42	2								-9.451333	1	1	0	0		1	0	1	1	1.999956	0	0.120000	2	0.115222	0.460000	0.220000	0.790000	0.440000	0.483256	0.460000	0	0.330000	0.620000
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr12:7559406C>T	ENST00000313599.3	-	5	866	c.809G>A	c.(808-810)cGc>cAc	p.R270H	CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H|CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1			96					CCCCATACAGCGGTTAGTTCC	0.448000																								0							SO:0001583	missense			ENST00000313599.3	1	1	hg19	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	10.370000	1.331677	0.241670	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	1.880000	-1.440000	0.088560	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.24044	0.0582	L	0.37697	1.125	0.093100	N	1.000000	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.21008	-1.0258	9	0.42905	T	0.14	.	5.806100	0.184400	0.0:0.3986:0.0:0.6014	.	280;270	E7EVK4;Q9NR16	.;C163B_HUMAN	H	270;280;270	ENSP00000315945:R270H;ENSP00000393474:R280H;ENSP00000379871:R270H	ENSP00000315945:R270H	R	-	2	0	CD163L1	7450673	0.000000	0.05858	0	0.037020	0.560000	0.356170	-4.189000	0.00277	-0.331000	0.085010	0.460000	0.390300	CGC		TCGA-HZ-8317-01A-11D-2396-08	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	1	0	0	27	545	0	88	0	1.147734e-01	0	12	0	88	2		0	0	0	0	0	2	1	1.000000	24	539	0	88	2								-4.786469	1	1	121412	2	37	1	0	1	1	1.995546	0	0.120000	2	0.114153	0.780000	0.520000	1.000000	1.000000	0.789459	0.780000	0	0.640000	0.940000
CHD8	57680	broad.mit.edu	37	14	21868724	21868724	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:21868724C>T	ENST00000557364.1	-	23	4681	c.4418G>A	c.(4417-4419)cGt>cAt	p.R1473H	CHD8_ENST00000430710.3_Missense_Mutation_p.R1194H|CHD8_ENST00000399982.2_Missense_Mutation_p.R1473H|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8			85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)		TTCAGTCATACGTCGCTTGAA	0.428000																								0							SO:0001583	missense			ENST00000557364.1	0	1	hg19	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	10.690000	1.421067	0.256390	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.83335	-1.71;-1.71;-1.71	4.920000	4.920000	0.645770	.	0.061161	0.64402	D	0.000003	T	0.66327	0.2778	N	0.11313	0.125	0.510120	D	0.999901	B;B	0.11235	0.001;0.004	B;B	0.11329	0.005;0.006	T	0.61202	-0.7110	10	0.22706	T	0.39	-8.9064	10.621200	0.454810	0.0:0.9113:0.0:0.0887	.	1473;1194	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	H	1194;1473;1193;1473	ENSP00000406288:R1194H;ENSP00000382863:R1473H;ENSP00000451601:R1473H	ENSP00000262707:R1193H	R	-	2	0	CHD8	20938564	0.947000	0.32204	1	0.803570	0.974000	0.676020	2.058000	0.41374	2.546000	0.858600	0.650000	0.862430	CGT		TCGA-HZ-8317-01A-11D-2396-08	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	0	0	0	8	189	0	36	1	3.879856e-01	3	27	0	36	2		0	0	0	0	0	2	1	0.989376	8	187	0	36	2								-10.194580	1	1	120810	1	36	1	0	0	0	1.958275	0	0.120000	2	0.096138	0.660000	0.320000	1.000000	1.000000	0.684868	0.660000	0	0.470000	0.910000
CTSG	1511	broad.mit.edu	37	14	25043976	25043976	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:25043976G>A	ENST00000216336.2	-	3	280	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G			25					GTGTTTTCCCGTCTCTGGATA	0.532000																								0							SO:0001583	missense			ENST00000216336.2	1	1	hg19	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	G	17.180000	3.323852	0.606340	.	.	ENSG00000100448	ENST00000216336	D	0.89270	-2.49	5.140000	-0.234000	0.130740	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.162600	0.03040	N	0.153196	D	0.90082	0.6902	L	0.42686	1.345	0.093100	N	1.000000	D	0.53462	0.96	P	0.57324	0.818	T	0.77091	-0.2716	10	0.72032	D	0.01	.	6.454400	0.219220	0.1768:0.4321:0.3911:0.0	.	82	P08311	CATG_HUMAN	W	82	ENSP00000216336:R82W	ENSP00000216336:R82W	R	-	1	2	CTSG	24113816	0.000000	0.05858	0	0.037020	0.004000	0.042600	-0.555000	0.05999	-0.140000	0.113940	0.655000	0.942530	CGG		TCGA-HZ-8317-01A-11D-2396-08	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	0	0	0	16	495	0	70	0	6.513625e-01	0	69	0	70	2		0	0	0	0	0	2	1	0.999929	16	491	0	70	2								-3.206707	1	1	0	0		1	0	0	0	1.983519	0	0.120000	2	0.108229	0.520000	0.300000	0.790000	0.510000	0.536177	0.520000	0	0.400000	0.660000
RALGAPA1	253959	broad.mit.edu	37	14	36064899	36064899	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:36064899C>T	ENST00000389698.3	-	36	6022	c.5632G>A	c.(5632-5634)Gta>Ata	p.V1878I	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.V1891I|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.V1925I|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.V1878I	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)			67					TGAAATATTACCTCTACTGTA	0.353000																								0							SO:0001583	missense			ENST00000389698.3	1	1	hg19	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	24.500000	4.542814	0.860220	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	5.050000	5.050000	0.679360	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	L	0.39085	1.19	0.536880	D	0.999976	D;P;P;P	0.76494	0.999;0.927;0.918;0.756	D;P;P;P	0.80764	0.994;0.842;0.554;0.531	D	0.94142	0.7398	10	0.51188	T	0.08	-13.6603	18.791100	0.919740	0.0:1.0:0.0:0.0	.	1925;1891;1878;1878	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	I	1878;1878;1878;1925;516;1891;1925	ENSP00000374348:V1878I;ENSP00000302647:V1878I;ENSP00000258840:V1925I;ENSP00000451133:V516I;ENSP00000371803:V1891I;ENSP00000451877:V1925I	ENSP00000258840:V1925I	V	-	1	0	RALGAPA1	35134650	1.000000	0.71417	1	0.803570	0.991000	0.796840	6.039000	0.70972	2.493000	0.841230	0.655000	0.942530	GTA		TCGA-HZ-8317-01A-11D-2396-08	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	0	0	0	12	516	0	76	1	3.861833e-01	3	52	0	76	2		0	0	0	0	0	2	1	0.999100	12	513	0	76	2								-3.171494	1	1	0	0		1	0	0	0	1.983519	0	0.120000	2	0.108229	0.380000	0.200000	0.620000	0.360000	0.397124	0.380000	0	0.280000	0.500000
GPR135	64582	broad.mit.edu	37	14	59930560	59930560	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:59930560C>T	ENST00000395116.1	-	1	1500	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	p.R462H(2)		13					TGGATTTTTGCGGGCCCACAT	0.607000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000395116.1	0	1	hg19	CCDS9738.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	22.500000	4.292998	0.809140	.	.	ENSG00000181619	ENST00000395116	T	0.61980	0.06	4.890000	3.080000	0.355060	.	0.387780	0.22539	U	0.058753	T	0.46034	0.1372	N	0.24115	0.695	0.807220	D	1.000000	B	0.09022	0.002	B	0.04013	0.001	T	0.30297	-0.9983	10	0.39692	T	0.17	-2.7593	11.064700	0.479680	0.0:0.8502:0.0:0.1498	.	462	Q8IZ08	GP135_HUMAN	H	462	ENSP00000378548:R462H	ENSP00000378548:R462H	R	-	2	0	GPR135	59000313	1.000000	0.71417	9.400000e-01	0.379240	0.994000	0.842990	3.548000	0.53670	0.675000	0.312640	0.651000	0.884530	CGC		TCGA-HZ-8317-01A-11D-2396-08	GPR135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276941.1	0	0	0	4	156	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	0.885401	4	153	0	31	2								-3.207487	1	1	121410	3	33	1	0	0	0	1.983519	0	0.120000	2	0.108229	0.440000	0.150000	0.920000	0.390000	0.479153	0.440000	0	0.270000	0.680000
SPTB	6710	broad.mit.edu	37	14	65260215	65260215	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr14:65260215C>T	ENST00000389721.5	-	13	2198	c.2166G>A	c.(2164-2166)tcG>tcA	p.S722S	SPTB_ENST00000389722.3_Silent_p.S722S|SPTB_ENST00000389720.3_Silent_p.S722S|SPTB_ENST00000556626.1_Silent_p.S722S|SPTB_ENST00000542895.1_Silent_p.S722S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic			106		all_lung(585;4.15e-09)			CCCACTGTGCCGACACCTCCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000389721.5	0	1	hg19	CCDS32100.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1	0	0	0	11	358	1	40		0	0	0	1	40	2		0	0	0	0	0	2	0	0.005231	11	355	1	38	27								-10.809540	1	1	121412	6	35	1	0	0	0	1.983519	0	0.120000	2	0.108229	0.500000	0.260000	0.820000	0.480000	0.519884	0.500000	0	0.360000	0.660000
HERC2	8924	broad.mit.edu	37	15	28370291	28370291	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:28370291C>T	ENST00000261609.7	-	84	12959	c.12851G>A	c.(12850-12852)gGa>gAa	p.G4284E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			ATTGGTGGTTCCGTCTCCCAG	0.532000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.116754	0.943850	.	.	ENSG00000128731	ENST00000261609	D	0.84589	-1.87	5.190000	5.190000	0.717260	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	M	0.85859	2.78	0.807220	D	1.000000	D	0.89917	1.0	D	0.87578	0.998	D	0.94249	0.7492	10	0.87932	D	0	.	18.720100	0.916890	0.0:1.0:0.0:0.0	.	4284	O95714	HERC2_HUMAN	E	4284	ENSP00000261609:G4284E	ENSP00000261609:G4284E	G	-	2	0	HERC2	26043886	1.000000	0.71417	1	0.803570	0.952000	0.607820	7.808000	0.86044	2.408000	0.817970	0.655000	0.942530	GGA		TCGA-HZ-8317-01A-11D-2396-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	0	1	32	1058	0	228	1	6.829055e-01	7	72	0	228	2		0	0	0	0	0	2	1	1.000000	32	1046	0	228	2								-2.712279	1	1	121412	1	35	1	1	2	3	2.010751	0	0.120000	2	0.126811	0.500000	0.340000	1.000000	0.490000	0.556049	0.500000	0	0.410000	0.640000
TGM5	9333	broad.mit.edu	37	15	43527883	43527883	+	Nonsense_Mutation	SNP	G	G	A	rs144532387	byFrequency	TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:43527883G>A	ENST00000220420.5	-	10	1505	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*	TGM5_ENST00000349114.4_Nonsense_Mutation_p.R418*	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5			44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		L-Glutamine(DB00130)	TCACTGGGTCGAAGGGAAGGT	0.562000																								0							SO:0001587	stop_gained			ENST00000220420.5	0	1	hg19	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	26.800000	4.771567	0.901080	2.27E-4	1.16E-4	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	.	.	.	5.580000	5.580000	0.844980	.	1.990680	0.02559	N	0.096485	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-0.2829	15.060600	0.719510	0.0:0.0:1.0:0.0	.	.	.	.	X	500;418;499	.	ENSP00000220420:R500X	R	-	1	2	TGM5	41315175	0.001000	0.12720	3.200000e-02	0.178290	0.207000	0.242580	0.862000	0.27899	2.631000	0.891680	0.655000	0.942530	CGA		TCGA-HZ-8317-01A-11D-2396-08	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	0	0	0	12	278	0	46	0	6.164718e-03	0	3	0	46	2		0	0	0	0	0	2	1	0.999132	12	276	0	46	2								-3.318794	1	1	121412	6	38	1	1	2	3	2.010751	0	0.120000	2	0.126811	0.730000	0.390000	1.000000	1.000000	0.748289	0.730000	0	0.540000	1.000000
TLE3	7090	broad.mit.edu	37	15	70346894	70346894	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr15:70346894G>T	ENST00000558939.1	-	16	3095	c.1718C>A	c.(1717-1719)aCg>aAg	p.T573K	TLE3_ENST00000317509.8_Missense_Mutation_p.T561K|TLE3_ENST00000451782.2_Missense_Mutation_p.T570K|TLE3_ENST00000560939.1_Missense_Mutation_p.T575K|TLE3_ENST00000440567.3_Missense_Mutation_p.T563K|TLE3_ENST00000558201.1_Missense_Mutation_p.T579K|TLE3_ENST00000539550.1_Missense_Mutation_p.T500K|TLE3_ENST00000557997.1_Missense_Mutation_p.T565K|TLE3_ENST00000559191.1_Missense_Mutation_p.T154K|TLE3_ENST00000559048.1_Missense_Mutation_p.T573K|TLE3_ENST00000442299.2_Missense_Mutation_p.T565K|TLE3_ENST00000560589.1_Missense_Mutation_p.T517K|TLE3_ENST00000557907.1_Missense_Mutation_p.T565K|TLE3_ENST00000558379.1_Missense_Mutation_p.T568K|TLE3_ENST00000559929.1_Missense_Mutation_p.T583K	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3			31					AGCCGAGGACGTCAGCTCGGC	0.662000																								0							SO:0001583	missense			ENST00000558939.1	0	1	hg19	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	31.000000	5.098445	0.941970	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.830000	4.830000	0.623500	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	L	0.34521	1.04	0.807220	D	1.000000	D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.996;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D;P	0.74348	0.983;0.96;0.937;0.977;0.971;0.977;0.957;0.908	T	0.68209	-0.5469	10	0.49607	T	0.09	-5.6579	17.701900	0.882980	0.0:0.0:1.0:0.0	.	563;570;565;568;561;573;573;500	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	K	565;570;573;563;500	ENSP00000390007:T565K;ENSP00000394717:T570K;ENSP00000415057:T563K;ENSP00000442594:T500K	ENSP00000319233:T573K	T	-	2	0	TLE3	68133948	1.000000	0.71417	9.950000e-01	0.509660	0.982000	0.717510	9.530000	0.98051	2.515000	0.847970	0.462000	0.415740	ACG		TCGA-HZ-8317-01A-11D-2396-08	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	1	0	0	13	232	0	42	0	2.291915e-01	1	15	0	42	2		0	0	0	0	0	2	1	0.999525	13	228	0	42	2								-15.978110	1	1	0	0		1	1	2	3	2.010751	0	0.120000	2	0.126811	0.930000	0.510000	1.000000	1.000000	0.875582	0.930000	1	0.690000	1.000000
MYH4	4622	broad.mit.edu	37	17	10348217	10348217	+	Splice_Site	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:10348217C>A	ENST00000255381.2	-	38	5577		c.e38-1		RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle			149					GCTCTCTCACCTGGAAGGGAA	0.483000																								0							SO:0001630	splice_region_variant			ENST00000255381.2	0	1	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	22.600000	4.308539	0.812470	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.500000	5.500000	0.815520	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773900	0.963830	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10288942	1.000000	0.71417	1	0.803570	0.848000	0.482340	7.776000	0.85560	2.744000	0.940650	0.655000	0.942530	.		TCGA-HZ-8317-01A-11D-2396-08	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	0	0	0	7	725	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	0.979681	6	716	0	110	2								-2.556550	1	1	0	0		1	1	2	3	2.013150	0	0.120000	2	0.127330	0.170000	0.070000	1.000000	0.160000	0.272819	0.170000	0	0.110000	0.290000
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	p.P999P(1)		68	Lung NSC(42;0.00431)				CAGGGGGAAAAGGGCTGCCTG	0.493000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000528896.2	0	1	hg19	CCDS32595.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	0	0	6	763	0	108	0	1.596628e-01	0	77	0	108	2		0	0	0	0	0	2	1	0.963756	6	754	0	108	2								-1.822892	0	1	0	0		1	1	2	3	2.008007	0	0.120000	2	0.126291	0.140000	0.050000	1.000000	0.130000	0.233097	0.140000	0	0.090000	0.240000
SLFN5	162394	broad.mit.edu	37	17	33591445	33591445	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:33591445C>T	ENST00000299977.4	+	4	1530	c.1382C>T	c.(1381-1383)gCg>gTg	p.A461V	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	p.A461V(1)		34		Ovarian(249;0.17)			AAGTGGGATGCGGGGTGCAAG	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000299977.4	0	1	hg19	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	c	10.190000	1.281290	0.233920	.	.	ENSG00000166750	ENST00000299977	T	0.02103	4.45	3.460000	-6.550000	0.018540	.	3.058740	0.01369	N	0.012514	T	0.02688	0.0081	M	0.62723	1.935	0.093100	N	1.000000	B	0.14438	0.01	B	0.04013	0.001	T	0.43065	-0.9414	10	0.32370	T	0.25	.	2.054000	0.035770	0.1462:0.4354:0.1471:0.2712	.	461	Q08AF3	SLFN5_HUMAN	V	461	ENSP00000299977:A461V	ENSP00000299977:A461V	A	+	2	0	SLFN5	30615558	0.000000	0.05858	0	0.037020	0.052000	0.149880	-2.060000	0.01392	-1.294000	0.023600	-0.302000	0.093040	GCG		TCGA-HZ-8317-01A-11D-2396-08	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	0	0	0	5	494	0	68	0	6.757447e-02	0	34	0	68	2		0	0	0	0	0	2	1	0.936503	5	490	0	68	2								-2.290819	0	1	0	0		1	1	2	3	2.008007	0	0.120000	2	0.126291	0.190000	0.060000	1.000000	0.170000	0.275749	0.190000	0	0.110000	0.330000
TNRC6C	57690	broad.mit.edu	37	17	76046827	76046827	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr17:76046827G>A	ENST00000588061.1	+	5	2411	c.1684G>A	c.(1684-1686)Gca>Aca	p.A562T	TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562T|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C			40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		GAGTGGGGCCGCAAATCAGGA	0.582000																								0							SO:0001583	missense			ENST00000588061.1	0	1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	6.103000	0.387346	0.115810	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14516	2.5;2.51;2.51;2.5	5.750000	3.790000	0.435880	.	0.922167	0.09205	N	0.834117	T	0.10680	0.0261	L	0.29908	0.895	0.268780	N	0.967600	B;B;B	0.13145	0.005;0.007;0.004	B;B;B	0.08055	0.002;0.003;0.001	T	0.38286	-0.9668	10	0.13108	T	0.6	0.8073	10.477800	0.446760	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	562	ENSP00000336783:A562T;ENSP00000301624:A562T;ENSP00000440310:A562T;ENSP00000442421:A562T	ENSP00000301624:A562T	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	5.570000e-01	0.283060	0.995000	0.863560	3.175000	0.50855	0.800000	0.340410	0.655000	0.942530	GCA		TCGA-HZ-8317-01A-11D-2396-08	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	0	0	0	5	544	1	87	0	2.448587e-03	0	22	1	87	3		0	0	0	0	0	2	0	0.001497	5	531	1	86	20								-1.985803	0	1	120932	32	47	1	1	2	3	2.008007	0	0.120000	2	0.126291	0.170000	0.060000	1.000000	0.150000	0.259706	0.170000	0	0.100000	0.300000
SMAD4	4089	broad.mit.edu	37	18	48593394	48593394	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr18:48593394A>T	ENST00000342988.3	+	10	1683	c.1145A>T	c.(1144-1146)cAc>cTc	p.H382L	SMAD4_ENST00000588745.1_Missense_Mutation_p.H286L|SMAD4_ENST00000398417.2_Missense_Mutation_p.H382L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CTAAGGTTGCACATAGGCAAA	0.338000																								38	Whole gene deletion(36)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	28.200000	4.901257	0.920350	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98822	-5.16;-5.16	5.650000	5.650000	0.869990	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.67700	2.07	0.807220	D	1.000000	D	0.89917	1.0	D	0.87578	0.998	D	0.99873	1.1099	10	0.87932	D	0	.	14.869300	0.704440	1.0:0.0:0.0:0.0	.	382	Q13485	SMAD4_HUMAN	L	382	ENSP00000341551:H382L;ENSP00000381452:H382L	ENSP00000341551:H382L	H	+	2	0	SMAD4	46847392	1.000000	0.71417	1	0.803570	0.997000	0.918780	9.236000	0.95360	2.151000	0.671560	0.460000	0.390300	CAC		TCGA-HZ-8317-01A-11D-2396-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	0	17	466	0	79	1	7.102852e-01	2	67	0	79	2	1	9.999855e-01	22	509	0	591	2	1	0.999961	17	458	0	79	2								-3.998939	1	1	0	0		1	1	2	3	2.001983	0	0.120000	2	0.125249	0.610000	0.360000	1.000000	0.580000	0.644069	0.610000	0	0.470000	0.810000
LYPD3	27076	broad.mit.edu	37	19	43965886	43965886	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:43965886G>A	ENST00000244333.3	-	5	746	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3			11		Prostate(69;0.0153)			GAGTTACAGCGGGACCCCTGG	0.622000																								0							SO:0001583	missense			ENST00000244333.3	1	1	hg19	CCDS12620.1	.	.	.	.	.	.	.	.	.	.	G	18.230000	3.578355	0.658780	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	T	0.69926	-0.44	4.380000	4.380000	0.526670	CD59 antigen (1);	0.194301	0.35067	N	0.003473	T	0.71829	0.3386	L	0.36672	1.1	0.489750	D	0.999739	D	0.89917	1.0	D	0.70716	0.97	T	0.70461	-0.4865	10	0.38643	T	0.18	.	13.210000	0.598190	0.0:0.0:1.0:0.0	.	220	O95274	LYPD3_HUMAN	C	220;168	ENSP00000244333:R220C	ENSP00000244333:R220C	R	-	1	0	LYPD3	48657726	1.000000	0.71417	1	0.803570	0.986000	0.746190	4.529000	0.60588	2.396000	0.815110	0.603000	0.832160	CGC		TCGA-HZ-8317-01A-11D-2396-08	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	0	0	0	28	741	0	101	1	2.977999e-01	3	26	0	101	2		0	0	0	0	0	2	1	1.000000	28	730	0	97	2								-2.494819	0	1	121412	9	43	1	1	2	3	2.016719	0	0.120000	2	0.128368	0.630000	0.420000	1.000000	0.610000	0.674103	0.630000	0	0.510000	0.840000
ZNF473	25888	broad.mit.edu	37	19	50548290	50548290	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:50548290G>T	ENST00000595661.1	+	6	1085	c.590G>T	c.(589-591)aGc>aTc	p.S197I	ZNF473_ENST00000391821.2_Missense_Mutation_p.S197I|ZNF473_ENST00000270617.3_Missense_Mutation_p.S197I|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.S185I			Q8WTR7	ZN473_HUMAN	zinc finger protein 473			37		all_neural(266;0.0459)|Ovarian(192;0.0728)			TCCGACCACAGCCAGCAGGAT	0.468000																								0							SO:0001583	missense			ENST00000595661.1	1	1	hg19	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	13.950000	2.391145	0.424100	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09817	3.01;3.01;2.94	4.360000	0.983000	0.197670	.	0.440569	0.19421	N	0.114692	T	0.07413	0.0187	L	0.29908	0.895	0.281360	N	0.929982	P	0.50943	0.94	P	0.45037	0.467	T	0.27606	-1.0069	10	0.15499	T	0.54	-6.7845	6.053000	0.197960	0.1824:0.158:0.6596:0.0	.	197	Q8WTR7	ZN473_HUMAN	I	197;197;185	ENSP00000270617:S197I;ENSP00000375697:S197I;ENSP00000388961:S185I	ENSP00000270617:S197I	S	+	2	0	ZNF473	55240102	.	.	1.240000e-01	0.218200	0.120000	0.201740	.	.	0.336000	0.236390	0.655000	0.942530	AGC		TCGA-HZ-8317-01A-11D-2396-08	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	0	0	0	14	434	0	67	1	2.848522e-02	2	6	0	67	2		0	0	0	0	0	2	1	0.999734	14	427	0	67	2								-13.004760	1	1	0	0		1	1	2	3	2.016719	0	0.120000	2	0.128368	0.560000	0.310000	1.000000	0.520000	0.608495	0.560000	0	0.410000	0.820000
LILRB2	10288	broad.mit.edu	37	19	54782828	54782828	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:54782828C>T	ENST00000391749.4	-	6	1065	c.794G>A	c.(793-795)cGc>cAc	p.R265H	LILRB2_ENST00000434421.1_Missense_Mutation_p.R149H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R265H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R265H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391748.1_Missense_Mutation_p.R265H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2			44	Ovarian(34;0.19)				AGGGAGCTGGCGAAGGTCACG	0.637000																								0							SO:0001583	missense			ENST00000391749.4	0	1	hg19	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	C	12.710000	2.018126	0.356060	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	2.600000	-3.340000	0.049430	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.782710	0.03355	N	0.196682	T	0.17704	0.0425	L	0.42581	1.335	0.093100	N	1.000000	D;P;D	0.58970	0.961;0.933;0.984	P;P;P	0.53809	0.735;0.735;0.735	T	0.24154	-1.0168	10	0.23302	T	0.38	.	5.368900	0.161290	0.6328:0.1698:0.1974:0.0	.	265;282;265	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	265;265;265;265;149	ENSP00000375628:R265H;ENSP00000319960:R265H;ENSP00000375629:R265H;ENSP00000375626:R265H;ENSP00000410117:R149H	ENSP00000319960:R265H	R	-	2	0	LILRB2	59474640	0.000000	0.05858	0	0.037020	0.003000	0.035180	-1.344000	0.02639	-1.121000	0.029490	-1.465000	0.010170	CGC		TCGA-HZ-8317-01A-11D-2396-08	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1	0	0	0	17	504	1	63	0	3.761790e-02	0	9	1	63	2		0	0	0	0	0	2	0	0.113788	16	490	1	62	25								-2.740496	1	1	121366	12	42	1	1	2	3	2.109859	0	0.120000	2	0.149101	0.620000	0.350000	1.000000	0.560000	0.684709	0.620000	0	0.460000	1.000000
USP29	57663	broad.mit.edu	37	19	57642253	57642253	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr19:57642253G>A	ENST00000254181.4	+	4	2664	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y	USP29_ENST00000598197.1_Missense_Mutation_p.C737Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29			85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)			CTCCAGCAGTGTATTGAGGAG	0.458000																								0							SO:0001583	missense			ENST00000254181.4	1	1	hg19	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	0.005000	-2.235668	0.002770	.	.	ENSG00000131864	ENST00000254181	T	0.41400	1.0	2.180000	-3.460000	0.047670	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.15089	0.0364	N	0.10916	0.065	0.093100	N	1.000000	B	0.21381	0.055	B	0.22386	0.039	T	0.26916	-1.0089	9	0.09084	T	0.74	.	0.537200	0.006380	0.4081:0.1745:0.2268:0.1905	.	737	Q9HBJ7	UBP29_HUMAN	Y	737	ENSP00000254181:C737Y	ENSP00000254181:C737Y	C	+	2	0	USP29	62334065	0.001000	0.12720	0	0.037020	0.039000	0.134160	0.000000	0.12993	-0.815000	0.043460	0.467000	0.429560	TGT		TCGA-HZ-8317-01A-11D-2396-08	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1	1	0	0	23	398	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	0.999999	23	395	0	48	2								-19.999990	1	1	0	0		1	1	2	3	2.032443	0	0.120000	2	0.131465	0.970000	0.610000	1.000000	1.000000	0.910166	0.970000	1	0.770000	1.000000
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated			10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL										Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0							SO:0001583	missense			ENST00000368395.1	0	1	hg19	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249000	0.808546	0.164670	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.730000	0.350000	0.160370	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.093100	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.184400	0.065960	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	1.000000e-03	0.086480	0.003000	0.035180	-0.417000	0.07088	0.027000	0.152970	-1.038000	0.023830	ACC		TCGA-HZ-8317-01A-11D-2396-08	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	0	0	22	91	1	17	1	9.863666e-01	91	550	1	17	77		0	0	0	0	0	2	1	0.763028	21	88	1	17	18								-2.653245	1	1	120668	181	36	1	1	2	3	2.087313	0	0.120000	2	0.143135	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
AKR7A2	8574	broad.mit.edu	37	1	19632583	19632583	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:19632583C>T	ENST00000235835.3	-	6	868	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)			9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)			GCGCCATATGCGGCCTGCAGG	0.632000																								0							SO:0001583	missense			ENST00000235835.3	0	1	hg19	CCDS194.1	.	.	.	.	.	.	.	.	.	.	C	2.734000	-0.263746	0.057540	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.04234	3.67;3.67	3.840000	-4.860000	0.031320	NADP-dependent oxidoreductase domain (3);	0.486606	0.22144	N	0.064003	T	0.02807	0.0084	L	0.32530	0.975	0.093100	N	1.000000	B	0.09022	0.002	B	0.08055	0.003	T	0.41963	-0.9479	10	0.20046	T	0.44	.	6.440100	0.218450	0.123:0.3475:0.0:0.5296	.	283	O43488	ARK72_HUMAN	T	283;238;145	ENSP00000235835:A283T;ENSP00000339084:A238T	ENSP00000235835:A283T	A	-	1	0	AKR7A2	19505170	0.010000	0.17322	1.000000e-03	0.086480	0.017000	0.094130	0.315000	0.19451	-0.830000	0.042620	-1.010000	0.024710	GCA		TCGA-HZ-8317-01A-11D-2396-08	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007165.2	0	0	0	6	559	0	67	1	4.924976e-01	2	137	0	67	2		0	0	0	0	0	2	1	0.964157	6	554	0	67	2								-2.217485	0	0	121412	2	36	1	1	2	3	2.016801	0	0.120000	2	0.128368	0.200000	0.070000	1.000000	0.170000	0.305180	0.200000	0	0.130000	0.360000
HEATR1	55127	broad.mit.edu	37	1	236739626	236739626	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:236739626G>A	ENST00000366582.3	-	22	3091	c.2977C>T	c.(2977-2979)Cat>Tat	p.H993Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.H993Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1			87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		AACTTCTGATGAGATTTCAGT	0.318000																								0							SO:0001583	missense			ENST00000366582.3	1	1	hg19	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	2.336000	-0.352148	0.051730	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66099	-0.17;-0.19	5.330000	3.460000	0.396130	Armadillo-type fold (2);	0.584047	0.17920	N	0.157540	T	0.44138	0.1279	L	0.31294	0.92	0.807220	D	1.000000	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27226	-1.0080	10	0.02654	T	1	.	11.691000	0.515160	0.1441:0.0:0.8559:0.0	.	993;993	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Y	993	ENSP00000355541:H993Y;ENSP00000355540:H993Y	ENSP00000355540:H993Y	H	-	1	0	HEATR1	234806249	1.000000	0.71417	9.830000e-01	0.444330	0.946000	0.594870	2.700000	0.47085	0.646000	0.306930	0.460000	0.390300	CAT		TCGA-HZ-8317-01A-11D-2396-08	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	0	0	24	700	0	101	0	1.515303e-01	0	20	0	101	2		0	0	0	0	0	2	1	1.000000	23	697	0	101	2								-2.903066	1	1	0	0		1	0	1	1	1.995684	0	0.120000	2	0.114688	0.550000	0.360000	0.780000	0.550000	0.564383	0.550000	0	0.440000	0.670000
IFI44	10561	broad.mit.edu	37	1	79128422	79128422	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr1:79128422C>G	ENST00000370747.4	+	8	1232	c.1147C>G	c.(1147-1149)Ctt>Gtt	p.L383V	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44			21					TGGATTTGCTCTTTCTGACAT	0.368000																								0							SO:0001583	missense			ENST00000370747.4	1	1	hg19	CCDS688.1	.	.	.	.	.	.	.	.	.	.	C	3.724000	-0.056868	0.073620	.	.	ENSG00000137965	ENST00000370747	T	0.08458	3.09	3.790000	0.729000	0.182660	.	0.232813	0.26457	N	0.024265	T	0.01489	0.0048	L	0.39633	1.23	0.807220	D	1.000000	B	0.33266	0.404	B	0.27715	0.082	T	0.47497	-0.9113	10	0.13108	T	0.6	-4.7103	3.452200	0.075020	0.0:0.4573:0.1987:0.344	.	383	Q8TCB0	IFI44_HUMAN	V	383	ENSP00000359783:L383V	ENSP00000359783:L383V	L	+	1	0	IFI44	78901010	0.907000	0.30839	7.900000e-02	0.204130	0.941000	0.585150	0.126000	0.15769	0.153000	0.192130	0.514000	0.502590	CTT		TCGA-HZ-8317-01A-11D-2396-08	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	1	0	0	14	353	0	64	1	8.486199e-01	7	81	0	64	2		0	0	0	0	0	2	1	0.999733	13	347	0	64	2								-3.912737	1	1	0	0		1	0	0	0	1.978634	0	0.120000	2	0.106054	0.630000	0.360000	0.980000	1.000000	0.649344	0.630000	0	0.480000	0.810000
DNMT3B	1789	broad.mit.edu	37	20	31385055	31385055	+	Silent	SNP	G	G	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:31385055G>C	ENST00000328111.2	+	14	1761	c.1440G>C	c.(1438-1440)gtG>gtC	p.V480V	DNMT3B_ENST00000348286.2_Silent_p.V460V|DNMT3B_ENST00000353855.2_Silent_p.V460V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Silent_p.V460V|DNMT3B_ENST00000456297.2_Silent_p.V384V|DNMT3B_ENST00000443239.3_Silent_p.V418V|DNMT3B_ENST00000201963.3_Silent_p.V472V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta			39					ACTGCACTGTGTGCTGCGAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000328111.2	1	1	hg19	CCDS13205.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	1	0	0	62	728	0	100	1	1.023110e-01	2	5	0	100	2		0	0	0	0	0	2	1	1.000000	62	720	0	98	2								-14.341810	1	1	0	0		1	1	2	3	2.079120	0	0.120000	2	0.141631	0.990000	0.990000	1.000000	1.000000	0.999631	0.990000	1	0.990000	1.000000
ZNF335	63925	broad.mit.edu	37	20	44578999	44578999	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:44578999C>T	ENST00000322927.2	-	22	3446	c.3346G>A	c.(3346-3348)Ggg>Agg	p.G1116R	ZNF335_ENST00000426788.1_Missense_Mutation_p.G961R	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	p.G1116W(1)		51		Myeloproliferative disorder(115;0.0122)			TTGAGGTGCCCGTTACGGTTG	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000322927.2	1	1	hg19	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	17.100000	3.302358	0.601950	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10192	3.05;2.9	4.640000	4.640000	0.579460	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.24115	0.695	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.03077	-1.1075	10	0.72032	D	0.01	-33.3619	17.019900	0.864310	0.0:1.0:0.0:0.0	.	961;1116	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	R	1116;893;961	ENSP00000325326:G1116R;ENSP00000397098:G961R	ENSP00000243961:G893R	G	-	1	0	ZNF335	44012406	1.000000	0.71417	9.640000e-01	0.405700	0.400000	0.307500	7.178000	0.77657	2.585000	0.873010	0.655000	0.942530	GGG		TCGA-HZ-8317-01A-11D-2396-08	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	1	0	0	53	649	0	107	1	8.346610e-01	7	35	0	107	2		0	0	0	0	0	2	1	1.000000	53	637	0	105	2								-2.352652	0	1	121400	1	35	1	1	2	3	2.079120	0	0.120000	2	0.141631	0.990000	0.990000	1.000000	1.000000	0.998705	0.990000	1	0.990000	1.000000
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	rs121913495		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		CTTCGCTGCCGTGTCCTGACT	0.423000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	88	Substitution - Missense(88)						SO:0001583	missense			ENST00000371085.3	0	1	hg19	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35.000000	5.430570	0.961500	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.530000	5.530000	0.826870	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.460600	0.949150	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	9.630000e-01	0.404240	0.936000	0.576290	9.291000	0.96070	2.596000	0.877370	0.563000	0.778840	CGT		TCGA-HZ-8317-01A-11D-2396-08	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	1	0	0	37	401	1	62	1	9.999708e-01	321	2045	1	62	91	1	1	38	536	0	523	2	1	0.983810	37	399	1	62	22								-2.716734	1	1	121412	10	32	1	1	2	3	2.079120	0	0.120000	2	0.141631	0.990000	0.990000	1.000000	1.000000	0.999374	0.990000	1	0.990000	1.000000
CRYBB3	1417	broad.mit.edu	37	22	25597368	25597368	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:25597368C>T	ENST00000215855.2	+	2	85	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CRYBB3_ENST00000404334.1_Missense_Mutation_p.A2V	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	p.A2V(1)		5					GGGGAGATGGCGGAACAGCAC	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000215855.2	0	1	hg19	CCDS13830.1	.	.	.	.	.	.	.	.	.	.	C	10.280000	1.307872	0.238210	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.79554	-0.93;-1.28	4.810000	2.290000	0.286100	.	0.512848	0.13707	U	0.368369	T	0.64382	0.2593	L	0.34521	1.04	0.283660	N	0.920233	B	0.34313	0.448	B	0.25140	0.058	T	0.61192	-0.7112	10	0.72032	D	0.01	.	3.797500	0.087460	0.1677:0.5667:0.1634:0.1022	.	2	P26998	CRBB3_HUMAN	V	2	ENSP00000215855:A2V;ENSP00000386123:A2V	ENSP00000215855:A2V	A	+	2	0	CRYBB3	23927368	0.964000	0.33143	8.690000e-01	0.341120	0.052000	0.149880	2.195000	0.42677	1.018000	0.395210	-0.122000	0.150050	GCG		TCGA-HZ-8317-01A-11D-2396-08	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	0	0	0	7	739	0	100	0	3.821138e-04	0	3	0	100	2		0	0	0	0	0	2	1	0.980279	6	735	0	100	2								-1.898831	0	1	121412	1	35	1	0	0	0	1.926876	0	0.120000	2	0.081420	0.150000	0.060000	0.290000	0.150000	0.168187	0.150000	0	0.100000	0.220000
MYH9	4627	broad.mit.edu	37	22	36702080	36702080	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr22:36702080C>T	ENST00000216181.5	-	17	2285	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle			86					GCACGAGATGCGGGTCCAGCT	0.592000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated						Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0							SO:0001819	synonymous_variant	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	ENST00000216181.5	0	1	hg19	CCDS13927.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	0	0	0	6	533	1	90	0	5.177535e-03	0	419	1	90	16		0	0	0	0	0	2	1	0.963915	6	527	0	89	2								-2.229277	0	1	121404	4	36	1	0	0	0	1.926876	0	0.120000	2	0.081420	0.180000	0.070000	0.360000	0.180000	0.202276	0.180000	0	0.120000	0.270000
SLC8A1	6546	broad.mit.edu	37	2	40656239	40656239	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr2:40656239G>A	ENST00000403092.1	-	2	1215	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	SLC8A1_ENST00000542024.1_Silent_p.H394H|SLC8A1_ENST00000406391.2_Silent_p.H394H|SLC8A1_ENST00000542756.1_Silent_p.H394H|SLC8A1_ENST00000332839.4_Silent_p.H394H|SLC8A1_ENST00000402441.1_Silent_p.H394H|SLC8A1_ENST00000405269.1_Silent_p.H394H|SLC8A1_ENST00000408028.2_Silent_p.H394H|SLC8A1_ENST00000405901.3_Silent_p.H394H|SLC8A1_ENST00000406785.2_Silent_p.H394H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1			100				Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGTTGACCTCGTGCATGCTGA	0.468000																								0							SO:0001819	synonymous_variant			ENST00000403092.1	1	1	hg19	CCDS1806.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	0	0	0	16	456	1	83	0	1.015588e-01	0	15	1	83	2		0	0	0	0	0	2	0	0.365502	16	457	1	83	19								-3.906712	1	1	121402	4	36	1	1	2	3	2.008043	0	0.120000	2	0.126291	0.590000	0.340000	1.000000	0.560000	0.632195	0.590000	0	0.450000	0.810000
TATDN2	9797	broad.mit.edu	37	3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	p.R415H(1)		28					AGCCGGAGCCGCATGAGTGAT	0.567000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000287652.4	0	1	hg19	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	8.315000	0.822940	0.166780	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.43294	0.95;0.95	4.650000	-7.600000	0.013030	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.093100	N	1.000000	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	9	0.30854	T	0.27	-1.0794	1.762900	0.029950	0.2604:0.0815:0.319:0.3391	.	415	Q93075	TATD2_HUMAN	H	415	ENSP00000287652:R415H;ENSP00000408736:R415H	ENSP00000287652:R415H	R	+	2	0	TATDN2	10287110	0.000000	0.05858	2.000000e-03	0.105220	0.142000	0.213510	-0.096000	0.11059	-0.765000	0.046450	-0.280000	0.100490	CGC		TCGA-HZ-8317-01A-11D-2396-08	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	0	0	0	6	826	0	117	0	6.819056e-02	0	49	0	117	2		0	0	0	0	0	2	1	0.964246	6	821	0	116	2								-1.859880	0	1	121412	2	39	1	1	2	3	2.002898	0	0.120000	2	0.125249	0.130000	0.050000	1.000000	0.120000	0.209160	0.130000	0	0.080000	0.220000
TPRG1	285386	broad.mit.edu	37	3	189028237	189028237	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:189028237G>A	ENST00000345063.3	+	5	709	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TPRG1_ENST00000433971.1_Missense_Mutation_p.R181H	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1			16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)		CTTCTGTCCCGCTGGAACCCA	0.473000																								0							SO:0001583	missense			ENST00000345063.3	0	1	hg19	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	19.640000	3.865563	0.719490	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.830000	4.930000	0.648220	.	0.052144	0.64402	D	0.000001	T	0.61350	0.2340	M	0.74647	2.275	0.520990	D	0.999945	B	0.17465	0.022	B	0.10450	0.005	T	0.62248	-0.6894	9	0.87932	D	0	-2.1854	10.239600	0.433030	0.1661:0.0:0.8339:0.0	.	181	Q6ZUI0	TPRG1_HUMAN	H	181	.	ENSP00000341031:R181H	R	+	2	0	TPRG1	190510931	1.000000	0.71417	4.940000e-01	0.275150	0.710000	0.409340	4.374000	0.59543	1.416000	0.470570	0.585000	0.799380	CGC		TCGA-HZ-8317-01A-11D-2396-08	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	0	0	0	5	375	0	66	0	4.661744e-02	0	21	0	66	2		0	0	0	0	0	2	1	0.937502	5	374	0	65	2								-2.774100	1	1	121406	7	37	1	1	2	3	2.002898	0	0.120000	2	0.125249	0.250000	0.090000	1.000000	0.210000	0.318509	0.250000	0	0.150000	0.410000
CCR3	1232	broad.mit.edu	37	3	46307531	46307531	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:46307531C>T	ENST00000357422.2	+	4	1425	c.882C>T	c.(880-882)tgC>tgT	p.C294C	CCR3_ENST00000541018.1_Silent_p.C294C|CCR3_ENST00000545097.1_Silent_p.C315C|CCR3_ENST00000395940.2_Silent_p.C294C|CCR3_ENST00000395942.2_Silent_p.C294C			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3			18					ACTCCCACTGCTGCATGAACC	0.527000																								0							SO:0001819	synonymous_variant			ENST00000357422.2	0	1	hg19	CCDS2738.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2	0	0	0	5	366	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.934313	5	358	0	54	2								-5.330120	1	1	0	0		1	1	2	3	2.002898	0	0.120000	2	0.125249	0.250000	0.090000	1.000000	0.230000	0.324132	0.250000	0	0.160000	0.420000
RHOA	387	broad.mit.edu	37	3	49405942	49405942	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr3:49405942A>T	ENST00000418115.1	-	3	580	c.196T>A	c.(196-198)Tat>Aat	p.Y66N	RHOA_ENST00000422781.1_Missense_Mutation_p.Y66N|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Intron	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A			12					AGGCGATCATAATCTTCCTGC	0.493000																								0							SO:0001583	missense			ENST00000418115.1	1	1	hg19	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	A	28.100000	4.889072	0.918140	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.81579	-1.51;-1.51;-1.51	5.780000	5.780000	0.914870	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.92970	3.365	0.807220	D	1.000000	P	0.40398	0.716	P	0.60012	0.867	D	0.93013	0.6433	10	0.87932	D	0	.	14.961900	0.711640	1.0:0.0:0.0:0.0	.	66	P61586	RHOA_HUMAN	N	66	ENSP00000400175:Y66N;ENSP00000413587:Y66N;ENSP00000408402:Y66N	ENSP00000400175:Y66N	Y	-	1	0	RHOA	49380946	1.000000	0.71417	1	0.803570	0.987000	0.754690	9.163000	0.94750	2.219000	0.720660	0.450000	0.298270	TAT		TCGA-HZ-8317-01A-11D-2396-08	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	1	0	1	33	609	0	90	1	1	193	1322	0	90	2		0	0	0	0	0	2	1	1.000000	33	606	0	88	2								-20.000000	1	1	0	0		1	1	2	3	2.002898	0	0.120000	2	0.125249	0.870000	0.610000	1.000000	1.000000	0.869421	0.870000	1	0.730000	1.000000
POU4F2	5458	broad.mit.edu	37	4	147561030	147561030	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:147561030C>A	ENST00000281321.3	+	2	548	c.300C>A	c.(298-300)ttC>ttA	p.F100L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2			33	all_hematologic(180;0.151)				GCAATATATTCGGCGGGCTGG	0.612000																								0							SO:0001583	missense			ENST00000281321.3	0	1	hg19	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	18.590000	3.656967	0.675860	.	.	ENSG00000151615	ENST00000281321	T	0.20881	2.04	5.900000	5.050000	0.679360	.	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.59436	1.845	0.807220	D	1.000000	D	0.89917	1.0	D	0.79108	0.992	T	0.19451	-1.0305	10	0.59425	D	0.04	.	10.116300	0.425930	0.0:0.8456:0.0:0.1544	.	100	Q12837	PO4F2_HUMAN	L	100	ENSP00000281321:F100L	ENSP00000281321:F100L	F	+	3	2	POU4F2	147780480	1.000000	0.71417	1	0.803570	0.992000	0.810270	1.989000	0.40707	1.489000	0.484500	0.563000	0.778840	TTC		TCGA-HZ-8317-01A-11D-2396-08	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	0	0	0	5	349	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.935132	5	343	0	36	2								-3.144570	1	1	0	0		1	1	2	3	2.005616	0	0.120000	2	0.125770	0.270000	0.090000	1.000000	0.230000	0.341458	0.270000	0	0.160000	0.450000
KLB	152831	broad.mit.edu	37	4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta			29					CAAGACCGGGGACTACCCCGC	0.672000																								0							SO:0001583	missense			ENST00000257408.4	1	1	hg19	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	19.580000	3.854905	0.717190	.	.	ENSG00000134962	ENST00000257408	T	0.33654	1.4	4.950000	4.950000	0.653090	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.050736	0.85682	D	0.000000	T	0.41465	0.1160	M	0.65975	2.015	0.490510	D	0.999740	P;P	0.44139	0.827;0.827	B;B	0.43445	0.42;0.42	T	0.46289	-0.9202	10	0.87932	D	0	-32.5532	12.628900	0.566460	0.0803:0.0:0.9197:0.0	.	772;781	B7ZL50;Q86Z14	.;KLOTB_HUMAN	N	781	ENSP00000257408:D781N	ENSP00000257408:D781N	D	+	1	0	KLB	39125082	1.000000	0.71417	1	0.803570	0.434000	0.317750	5.387000	0.66243	2.293000	0.772030	0.313000	0.208870	GAC		TCGA-HZ-8317-01A-11D-2396-08	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	1	0	0	16	420	0	51	0	4.636798e-03	0	3	0	51	2		0	0	0	0	0	2	1	0.999930	16	415	0	51	2								-15.594620	1	1	0	0		1	1	2	3	2.005616	0	0.120000	2	0.125770	0.640000	0.370000	1.000000	0.610000	0.671535	0.640000	0	0.490000	0.870000
LPHN3	23284	broad.mit.edu	37	4	62812695	62812695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:62812695C>T	ENST00000514591.1	+	15	2608	c.2279C>T	c.(2278-2280)gCc>gTc	p.A760V	LPHN3_ENST00000511324.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514996.1_Missense_Mutation_p.A760V|LPHN3_ENST00000506700.1_Missense_Mutation_p.A760V|LPHN3_ENST00000509896.1_Missense_Mutation_p.A828V|LPHN3_ENST00000508946.1_Missense_Mutation_p.A760V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.A828V|LPHN3_ENST00000514157.1_Missense_Mutation_p.A760V|LPHN3_ENST00000512091.2_Missense_Mutation_p.A760V|LPHN3_ENST00000507164.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506746.1_Missense_Mutation_p.A828V|LPHN3_ENST00000506720.1_Missense_Mutation_p.A828V|LPHN3_ENST00000507625.1_Missense_Mutation_p.A828V|LPHN3_ENST00000545650.1_Missense_Mutation_p.A760V|LPHN3_ENST00000504896.1_Missense_Mutation_p.A760V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	p.A760V(3)|p.A760G(1)		125					ACGGAGAATGCCAGTATGAAG	0.403000																								4	Substitution - Missense(4)						SO:0001583	missense			ENST00000514591.1	0	1	hg19	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	34.000000	5.409129	0.960720	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	5.510000	5.510000	0.819320	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.65975	2.015	0.807220	D	1.000000	D;D;D	0.56746	0.977;0.977;0.972	P;P;P	0.59703	0.862;0.862;0.616	T	0.00849	-1.1541	10	0.66056	D	0.02	.	19.427800	0.947510	0.0:1.0:0.0:0.0	.	760;747;760	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	V	760;760;828;828;760;760;747;760;828;828;828;760;760;760;828;828;760	ENSP00000423388:A760V;ENSP00000422533:A760V;ENSP00000423787:A828V;ENSP00000425033:A828V;ENSP00000424120:A760V;ENSP00000439831:A760V;ENSP00000421476:A828V;ENSP00000424030:A828V;ENSP00000421372:A828V;ENSP00000425201:A760V;ENSP00000423434:A760V;ENSP00000421627:A760V;ENSP00000420931:A828V;ENSP00000425884:A828V;ENSP00000424258:A760V	ENSP00000280009:A760V	A	+	2	0	LPHN3	62495290	1.000000	0.71417	1	0.803570	0.997000	0.918780	7.818000	0.86416	2.595000	0.876830	0.557000	0.710580	GCC		TCGA-HZ-8317-01A-11D-2396-08	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1	0	0	0	7	1259	0	167	0	4.474573e-05	0	2	0	167	2		0	0	0	0	0	2	1	0.979846	7	1246	0	165	2								-1.905658	0	1	0	0		1	1	2	3	2.005616	0	0.120000	2	0.125770	0.100000	0.030000	1.000000	0.090000	0.184781	0.100000	0	0.060000	0.160000
COPS4	51138	broad.mit.edu	37	4	83978424	83978424	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr4:83978424G>A	ENST00000264389.2	+	6	713	c.578G>A	c.(577-579)cGt>cAt	p.R193H	COPS4_ENST00000509093.1_Missense_Mutation_p.R193H|COPS4_ENST00000503682.1_Missense_Mutation_p.R193H|COPS4_ENST00000511653.1_Missense_Mutation_p.R193H	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4			13		Hepatocellular(203;0.114)			TGCTATGCACGTGTTCTTGAT	0.338000																								0							SO:0001583	missense			ENST00000264389.2	1	1	hg19	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	25.800000	4.672433	0.883480	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.57107	0.47;0.59;0.65;0.42;0.55	5.570000	4.730000	0.599950	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.86028	2.79	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.79784	0.991;0.721;0.981;0.993	T	0.79200	-0.1901	10	0.66056	D	0.02	-7.0725	14.299800	0.663390	0.0714:0.0:0.9286:0.0	.	193;193;193;193	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	H	193;193;81;193;193	ENSP00000425976:R193H;ENSP00000264389:R193H;ENSP00000425486:R81H;ENSP00000424791:R193H;ENSP00000424655:R193H	ENSP00000264389:R193H	R	+	2	0	COPS4	84197448	1.000000	0.71417	1	0.803570	0.994000	0.842990	9.370000	0.97159	1.355000	0.458650	0.467000	0.429560	CGT		TCGA-HZ-8317-01A-11D-2396-08	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1	0	0	0	9	346	0	46	1	7.164739e-01	4	91	0	46	2		0	0	0	0	0	2	1	0.994065	8	343	0	46	2								-9.025456	1	1	0	0		1	1	2	3	2.005616	0	0.120000	2	0.125770	0.450000	0.220000	1.000000	0.420000	0.508598	0.450000	0	0.320000	0.680000
PCDHB13	56123	broad.mit.edu	37	5	140594939	140594939	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140594939C>T	ENST00000341948.4	+	1	1431	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13			66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		GAAAGCAGAGCGGAATACAAC	0.478000																								0							SO:0001583	missense			ENST00000341948.4	0	1	hg19	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	14.500000	2.553086	0.454870	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.03663	3.85	3.500000	1.630000	0.238070	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14270	0.0345	H	0.94423	3.535	0.093100	N	1.000000	P	0.36199	0.543	B	0.42462	0.388	T	0.03863	-1.0997	9	0.87932	D	0	.	10.354900	0.439580	0.148:0.7087:0.1433:0.0	.	415	Q9Y5F0	PCDBD_HUMAN	V	415	ENSP00000345491:A415V	ENSP00000345491:A415V	A	+	2	0	PCDHB13	140575123	0.000000	0.05858	0	0.037020	0.035000	0.128510	1.246000	0.32803	0.051000	0.159780	-2.031000	0.004240	GCG		TCGA-HZ-8317-01A-11D-2396-08	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	0	0	0	19	618	0	81	0	9.583748e-03	0	5	0	81	2		0	0	0	0	0	2	1	0.999989	19	608	0	81	2								-3.420294	1	1	121412	2	35	1	1	2	3	2.007773	0	0.120000	2	0.126291	0.520000	0.310000	1.000000	0.490000	0.566118	0.520000	0	0.400000	0.700000
PCDHGA1	56114	broad.mit.edu	37	5	140712120	140712120	+	Silent	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr5:140712120G>A	ENST00000517417.1	+	1	1869	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	PCDHGA1_ENST00000378105.3_Silent_p.T623T	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTCTGCACACGGGCGAGGTGC	0.701000																								0							SO:0001819	synonymous_variant			ENST00000517417.1	0	1	hg19	CCDS54922.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	0	0	0	20	390	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.999951	17	301	0	91	2								-2.671616	1	1	120766	1	26	1	1	2	3	2.007773	0	0.120000	2	0.126291	0.840000	0.520000	1.000000	1.000000	0.837788	0.840000	0	0.670000	1.000000
STXBP5	134957	broad.mit.edu	37	6	147703993	147703993	+	Silent	SNP	A	A	G			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:147703993A>G	ENST00000321680.6	+	27	3273	c.3273A>G	c.(3271-3273)aaA>aaG	p.K1091K	STXBP5_ENST00000367481.3_Silent_p.K1055K|STXBP5_ENST00000179882.6_Silent_p.K746K|STXBP5_ENST00000367480.3_Silent_p.K1038K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)			42		Ovarian(120;0.0164)			AAGGCGTAAAAGGGGCAGCAT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000321680.6	0	1	hg19	CCDS47499.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1	0	0	0	6	915	0	114	0	4.028711e-02	0	40	0	114	2		0	0	0	0	0	2	1	0.963939	6	906	0	113	2								-2.475667	0	1	0	0		1	0	0	0	1.963680	0	0.120000	2	0.099468	0.110000	0.040000	0.220000	0.110000	0.122305	0.110000	0	0.070000	0.170000
SYNGAP1	8831	broad.mit.edu	37	6	33405686	33405686	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr6:33405686G>A	ENST00000418600.2	+	8	1105	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R276H|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R335H|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1			43					GACAAAAAGCGCAAGAAGGAC	0.607000																								0							SO:0001583	missense			ENST00000418600.2	0	1	hg19	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	G	19.110000	3.763499	0.697630	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.40476	1.03;1.03;1.03	4.500000	3.630000	0.416090	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.41558	0.1164	L	0.44542	1.39	0.514820	D	0.999924	D;D;D;P	0.89917	1.0;1.0;1.0;0.889	D;D;D;P	0.87578	0.998;0.996;0.996;0.487	T	0.43877	-0.9364	10	0.87932	D	0	.	8.488600	0.330860	0.1058:0.0:0.8942:0.0	.	335;335;335;335	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	H	335;335;335;276	ENSP00000293748:R335H;ENSP00000403636:R335H;ENSP00000412475:R276H	ENSP00000293748:R335H	R	+	2	0	SYNGAP1	33513664	1.000000	0.71417	9.980000e-01	0.565050	0.996000	0.888480	2.360000	0.44151	1.110000	0.416990	0.655000	0.942530	CGC		TCGA-HZ-8317-01A-11D-2396-08	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	0	0	0	7	528	0	77	0	1.698580e-02	0	12	0	77	2		0	0	0	0	0	2	1	0.979797	7	521	0	77	2								-2.746196	1	1	0	0		1	0	0	0	1.963680	0	0.120000	2	0.099468	0.220000	0.090000	0.410000	0.210000	0.238534	0.220000	0	0.150000	0.320000
ENTPD8	377841	broad.mit.edu	37	9	140331454	140331454	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:140331454T>C	ENST00000472938.1	-	4	438	c.422A>G	c.(421-423)gAc>gGc	p.D141G	ENTPD8_ENST00000371506.2_Missense_Mutation_p.D141G|ENTPD8_ENST00000344119.2_Missense_Mutation_p.D141G			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8			7	all_cancers(76;0.0926)				TGCAAAGATGTCCCTGGCCTG	0.682000																								0							SO:0001583	missense			ENST00000472938.1	1	1	hg19	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	T	12.450000	1.941896	0.342830	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.12039	2.72;2.72;2.72	4.070000	-2.280000	0.068260	.	1.335750	0.04809	N	0.434870	T	0.11452	0.0279	L	0.49455	1.56	0.188730	N	0.999981	B;B	0.34399	0.452;0.005	B;B	0.29862	0.108;0.021	T	0.30650	-0.9971	10	0.38643	T	0.18	0.6553	4.565400	0.121840	0.0:0.2689:0.3092:0.4219	.	141;141	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	G	141	ENSP00000344089:D141G;ENSP00000360561:D141G;ENSP00000420531:D141G	ENSP00000344089:D141G	D	-	2	0	ENTPD8	139451275	0.000000	0.05858	3.300000e-02	0.179140	0.596000	0.367810	0.070000	0.14573	-0.340000	0.083880	0.459000	0.354650	GAC		TCGA-HZ-8317-01A-11D-2396-08	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	0	0	12	335	0	55	0	6.355940e-02	0	11	0	55	2		0	0	0	0	0	2	1	0.999109	12	332	0	54	2								-12.829270	1	1	0	0		1	0	0	0	1.941747	0	0.120000	2	0.088272	0.560000	0.300000	0.900000	0.540000	0.580626	0.560000	0	0.420000	0.730000
FREM1	158326	broad.mit.edu	37	9	14842569	14842569	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chr9:14842569C>T	ENST00000380880.3	-	9	2266	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	FREM1_ENST00000380881.4_Missense_Mutation_p.V496M|FREM1_ENST00000422223.2_Missense_Mutation_p.V495M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	p.V496L(1)		100					CGGAAGACCACGAAGTCTTTG	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000380880.3	1	1	hg19	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	18.110000	3.549879	0.653110	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.46063	0.88;0.88;0.88	5.630000	2.760000	0.324660	.	0.122894	0.56097	D	0.000034	T	0.53142	0.1778	M	0.66939	2.045	0.396280	D	0.970137	D	0.76494	0.999	D	0.63957	0.92	T	0.54846	-0.8232	10	0.62326	D	0.03	-13.2093	5.431200	0.164540	0.0:0.5833:0.1427:0.274	.	495	Q5H8C1	FREM1_HUMAN	M	496;495;495	ENSP00000370263:V496M;ENSP00000412940:V495M;ENSP00000370262:V495M	ENSP00000370257:V498M	V	-	1	0	FREM1	14832569	1.000000	0.71417	9.990000e-01	0.593770	0.963000	0.636630	1.080000	0.30779	0.847000	0.351670	0.655000	0.942530	GTG		TCGA-HZ-8317-01A-11D-2396-08	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	0	0	0	20	580	0	99	0	3.721191e-03	0	3	0	99	2		0	0	0	0	0	2	1	0.999995	20	573	0	98	2								-3.712540	1	1	121018	1	35	1	0	1	1	1.987992	0	0.120000	2	0.112545	0.550000	0.340000	0.810000	0.550000	0.568880	0.550000	0	0.440000	0.680000
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	p.Q394Q(1)		43					gctgctgctgctgttgttggt	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000524145.1	0	1	hg19	CCDS48154.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	0	0	0	7	374	0	41	0	2.306821e-02	0	11	0	41	2	0	0	0	1	0	1	2	1	0.984412	3	400	0	45	2								-2.975317	1	1	0	0		1	0	1	1			0.120000	2	0.120000	0.320000	0.140000	0.590000	0.300000	0.341430	0.320000	0	0.210000	0.450000
NSDHL	50814	broad.mit.edu	37	X	152031181	152031181	+	Silent	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:152031181C>T	ENST00000370274.3	+	5	650	c.456C>T	c.(454-456)ggC>ggT	p.G152G	NSDHL_ENST00000440023.1_Silent_p.G152G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	p.G152G(1)		15	Acute lymphoblastic leukemia(192;6.56e-05)				TCTTTGAGGGCGTCGATATCA	0.413000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000370274.3	1	1	hg19	CCDS14717.1																																																																																				TCGA-HZ-8317-01A-11D-2396-08	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	0	0	0	24	636	0	112	0	6.166855e-01	0	56	0	112	2		0	0	0	0	0	2	1	1.000000	24	634	0	112	2								-3.984244	1	1	0	0		1	0	1	1			0.120000	2	0.120000	0.600000	0.400000	0.860000	0.600000	0.622241	0.600000	0	0.490000	0.740000
PLXNB3	5365	broad.mit.edu	37	X	153036952	153036952	+	Missense_Mutation	SNP	G	G	A	rs141109198		TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:153036952G>A	ENST00000361971.5	+	14	2473	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	PLXNB3_ENST00000538282.1_Missense_Mutation_p.D397N|PLXNB3_ENST00000538776.1_Missense_Mutation_p.D440N|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.D810N	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3			32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				GATCCTGTACGACTGCGCCAT	0.672000																								0							SO:0001583	missense			ENST00000361971.5	1	1	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	9.597000	1.127716	0.209590	0.0	2.98E-4	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.65549	5.37;5.34;4.75;-0.16	5.110000	5.110000	0.695290	.	0.049715	0.85682	D	0.000000	T	0.36853	0.0982	N	0.21373	0.66	0.442610	D	0.997117	B;P;B;B	0.36249	0.008;0.545;0.024;0.003	B;B;B;B	0.28849	0.004;0.095;0.02;0.003	T	0.41893	-0.9483	10	0.02654	T	1	.	8.734900	0.345230	0.1051:0.0:0.8949:0.0	.	440;469;810;787	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	N	810;787;440;397	ENSP00000442736:D810N;ENSP00000355378:D787N;ENSP00000445569:D440N;ENSP00000441919:D397N	ENSP00000355378:D787N	D	+	1	0	PLXNB3	152690146	0.213000	0.23551	9.850000e-01	0.450670	0.052000	0.149880	1.359000	0.34113	2.111000	0.644770	0.529000	0.557590	GAC		TCGA-HZ-8317-01A-11D-2396-08	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	0	12	253	0	56	0	1.488194e-01	0	14	0	56	2		0	0	0	0	0	2	1	0.999137	12	251	0	55	2								-14.026490	1	1	120806	9	36	1	0	1	1			0.120000	2	0.120000	0.760000	0.420000	1.000000	1.000000	0.767359	0.760000	0	0.570000	0.990000
FTHL17	53940	broad.mit.edu	37	X	31089614	31089614	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8317-01A-11D-2396-08	TCGA-HZ-8317-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9626cf9d-70d8-414a-87ff-4626c3cc4023	c3e58127-1737-432b-b0a5-aedcfc3ddab4	g.chrX:31089614C>T	ENST00000359202.3	-	1	556	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17			23					AGGTTGCTCACGTAGCCACCC	0.617000																								0							SO:0001583	missense			ENST00000359202.3	1	1	hg19	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	C	11.190000	1.565741	0.279150	.	.	ENSG00000132446	ENST00000359202	T	0.65549	-0.16	3.950000	-7.890000	0.011740	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.813860	0.11045	N	0.605645	T	0.63307	0.2500	M	0.75777	2.31	0.204890	N	0.999899	D	0.67145	0.996	P	0.52109	0.69	T	0.73445	-0.3980	10	0.62326	D	0.03	.	7.107100	0.253700	0.0696:0.0807:0.4098:0.4399	.	153	Q9BXU8	FHL17_HUMAN	M	153	ENSP00000368207:V153M	ENSP00000368207:V153M	V	-	1	0	FTHL17	30999535	0.000000	0.05858	0	0.037020	0.013000	0.082790	-5.299000	0.00133	-5.197000	0.000190	-0.337000	0.081490	GTG		TCGA-HZ-8317-01A-11D-2396-08	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	1	0	0	19	453	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	0.999990	19	449	0	65	2								-18.315950	1	1	0	0		1	0	1	1			0.120000	2	0.120000	0.670000	0.420000	0.990000	1.000000	0.689982	0.670000	0	0.530000	0.840000