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
SLC4A1	6521	broad.mit.edu	37	17	42330701	42330701	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:42330701delC	ENST00000262418.6	-	17	2251	c.2096delG	c.(2095-2097)ggcfs	p.G699fs		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)			40		Breast(137;0.014)|Prostate(33;0.0181)			GAAGCCGGAGCCCTTGACCAT	0.637000																								0							SO:0001589	frameshift_variant			ENST00000262418.6	1	0	hg19	CCDS11481.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	1	0	0	40	295	0	63			0	0	0	63				0	0	0	0		1	0.928932	49	293	3	65	30	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.028634	0	0.270000	1.940000	0.273921	0.890000	0.650000	1.000000	1.000000	0.884479	0.890000	1	7.600000e-01	1
ARID1A	8289	broad.mit.edu	37	1	27058070	27058070	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:27058070delC	ENST00000324856.7	+	3	2149	c.1778delC	c.(1777-1779)tccfs	p.S593fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S210fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S593fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			ACTGCCTATTCCCAGCAGCGC	0.587000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001589	frameshift_variant			ENST00000324856.7	1	0	hg19	CCDS285.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	0	113	953	0	160	1	9.953671e-01	4	65	0	160	2	1	1	85	643	0	539	2	1	0.999990	143	946	6	156	62	0	0	0	0	0	0		-3.318794	1	1	0	0		1	1	2	3	2.037843	0	0.270000	1.940000	0.275865	0.790000	0.650000	1.000000	0.790000	0.804669	0.790000	0	7.200000e-01	8.800000e-01
ACVR2A	92	broad.mit.edu	37	2	148657137	148657138	+	Splice_Site	INS	-	-	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:148657137_148657138insT	ENST00000241416.7	+	3	1009		c.e3+1		ACVR2A_ENST00000404590.1_Splice_Site|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Splice_Site	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA			45					GTCACACAGCGTAAGTTCACAG	0.366000																								0							SO:0001630	splice_region_variant			ENST00000241416.7	0	1	hg19	CCDS33301.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	1	0	0	157	1257	0	227	0	8.722748e-01	0	31	0	227	2	1	1	51	388	0	272	2	1	1.000000	158	1241	0	222	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.018485	0	0.270000	1.940000	0.270984	0.810000	0.700000	0.950000	0.820000	0.825991	0.810000	0	7.500000e-01	8.900000e-01
SLC22A7	10864	broad.mit.edu	37	6	43269953	43269955	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr6:43269953_43269955delCTC	ENST00000372585.5	+	8	1172_1174	c.1077_1079delCTC	c.(1075-1080)ttctcc>ttc	p.S360del	SLC22A7_ENST00000372589.3_In_Frame_Del_p.S358del|SLC22A7_ENST00000372574.3_In_Frame_Del_p.S358del	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7			26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)	Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAGTGAACTTCTCCTATTACGGC	0.562000																								0							SO:0001651	inframe_deletion			ENST00000372585.5	0	1	hg19	CCDS4893.2																																																																																				TCGA-HZ-8315-01A-11D-2396-08	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1	1	0	0	36	322	0	69			0	0	0	69				0	0	0	0		1	0.998276	48	332	1	71	18	0	0	0	0	0	0		-13.052940	1	1	0	0		1	0	1	1	1.758375	1	0.270000	1.940000	0.156069	0.630000	0.450000	0.840000	0.640000	0.648278	0.630000	0	5.400000e-01	7.400000e-01
DCHS1	8642	broad.mit.edu	37	11	6661892	6661892	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr11:6661892C>T	ENST00000299441.3	-	2	1364	c.953G>A	c.(952-954)cGg>cAg	p.R318Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1			103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)			GTCCAGTGGCCGCTCTAACTG	0.612000																								0							SO:0001583	missense			ENST00000299441.3	1	1	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498727	0.64298	.	.	ENSG00000166341	ENST00000299441	T	0.52295	0.67	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.000000	0.42964	D	0.000628	T	0.35098	0.0920	L	0.28649	0.875	0.31682	N	0.643017	P	0.47545	0.897	P	0.45343	0.477	T	0.32107	-0.9919	10	0.17832	T	0.49	.	7.5326	0.27691	0.0:0.8152:0.0:0.1848	.	318	Q96JQ0	PCD16_HUMAN	Q	318	ENSP00000299441:R318Q	ENSP00000299441:R318Q	R	-	2	0	DCHS1	6618468	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.706000	0.47135	2.381000	0.81170	0.637000	0.83480	CGG		TCGA-HZ-8315-01A-11D-2396-08	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	1	0	1	72	461	0	93	0	6.911029e-01	0	17	0	93	2		0	0	0	0	0	2	1	1.000000	64	408	0	76	2		0	0	0	0	93	2	-3.221907	1	1	0	0		1	1	2	3	2.022644	0	0.270000	1.940000	0.271966	0.990000	0.790000	1.000000	1.000000	0.960785	0.990000	1	8.900000e-01	1
MYBPC1	4604	broad.mit.edu	37	12	102056180	102056180	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:102056180A>G	ENST00000550270.1	+	19	2002	c.2002A>G	c.(2002-2004)Agg>Ggg	p.R668G	RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R681G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R655G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R654G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R649G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R642G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R569G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R656G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type			57					CAGGTGGATGAGGCTGAATTT	0.403000																								0							SO:0001583	missense			ENST00000550270.1	1	1	hg19	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829492	0.71258	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.86	3.41	0.39046	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000027	T	0.71341	0.3328	M	0.78223	2.4	0.54753	D	0.999987	D;D;D;D;D;P;D;D;D;D	0.89917	0.991;1.0;0.973;0.996;0.999;0.745;0.995;0.996;0.974;0.995	D;D;D;D;D;P;D;D;D;D	0.91635	0.975;0.999;0.95;0.997;0.997;0.62;0.995;0.998;0.962;0.996	T	0.73707	-0.3898	10	0.87932	D	0	.	12.8782	0.58001	0.6074:0.3926:0.0:0.0	.	649;656;668;668;655;642;668;668;693;693	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	G	642;668;668;668;655;654;693;681;668;693;668;649;656;693;569;668	ENSP00000448175:R642G;ENSP00000400908:R668G;ENSP00000388989:R668G;ENSP00000353822:R668G;ENSP00000376665:R655G;ENSP00000447362:R654G;ENSP00000354845:R693G;ENSP00000447660:R681G;ENSP00000447900:R668G;ENSP00000440034:R668G;ENSP00000446128:R649G;ENSP00000442847:R656G;ENSP00000354849:R693G;ENSP00000447116:R569G;ENSP00000449702:R668G	ENSP00000353822:R668G	R	+	1	2	MYBPC1	100580311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.892000	0.56235	0.509000	0.28195	0.528000	0.53228	AGG		TCGA-HZ-8315-01A-11D-2396-08	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1	1	0	1	31	240	0	52	0	0	0	1	0	52	2		0	0	0	0	0	2	1	1.000000	31	239	0	52	2		0	0	0	0	52	2	-13.153570	1	1	0	0		1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.840000	0.590000	1.000000	1.000000	0.842021	0.840000	0	7.000000e-01	9.900000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-8315-01A-11D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	11	73	0	15	1	8.437386e-01	8	17	0	15	2	1	1	61	485	0	373	2	1	0.998710	11	73	0	15	2	1	1	1433	6444	0	15	2	-8.358520	1	1	121404	2	44	1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.960000	0.530000	1.000000	1.000000	0.892294	0.960000	1	7.200000e-01	1
TM7SF3	51768	broad.mit.edu	37	12	27149763	27149763	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:27149763C>T	ENST00000343028.4	-	4	655	c.430G>A	c.(430-432)Gat>Aat	p.D144N	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3			18	Colorectal(261;0.0847)				ATATCTAAATCGAACTCCAAA	0.383000																								0							SO:0001583	missense			ENST00000343028.4	1	1	hg19	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453206	0.26161	.	.	ENSG00000064115	ENST00000343028;ENST00000543803;ENST00000539741;ENST00000543088;ENST00000535423	T;T;T;T	0.47177	1.47;0.94;0.93;0.85	4.4	3.5	0.40072	.	0.265132	0.37669	N	0.001996	T	0.34164	0.0888	L	0.52266	1.64	0.34122	D	0.664214	B	0.30021	0.265	B	0.12837	0.008	T	0.42799	-0.9430	10	0.28530	T	0.3	-22.7313	7.8384	0.29384	0.0:0.7662:0.0:0.2338	.	144	Q9NS93	TM7S3_HUMAN	N	144;42;22;22;22	ENSP00000342322:D144N;ENSP00000442617:D42N;ENSP00000441027:D22N;ENSP00000444632:D22N	ENSP00000342322:D144N	D	-	1	0	TM7SF3	27041030	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.019000	0.30014	2.448000	0.82819	0.563000	0.77884	GAT		TCGA-HZ-8315-01A-11D-2396-08	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	1	0	1	25	215	0	34	1	9.999121e-01	37	93	0	34	2		0	0	0	0	0	2	1	1.000000	24	215	0	34	2		0	0	0	0	34	2	-20.000000	1	1	0	0		1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.760000	0.510000	1.000000	1.000000	0.776813	0.760000	0	6.300000e-01	9.200000e-01
CSAD	51380	broad.mit.edu	37	12	53552313	53552313	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:53552313C>T	ENST00000444623.1	-	17	1731	c.1464G>A	c.(1462-1464)cgG>cgA	p.R488R	CSAD_ENST00000379846.1_Silent_p.R341R|CSAD_ENST00000453446.2_Silent_p.R488R|CSAD_ENST00000379843.3_Silent_p.R341R|CSAD_ENST00000267085.4_Silent_p.R515R|RP11-1136G11.8_ENST00000550908.1_lincRNA	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase			14				L-Cysteine(DB00151)	CCTGGCCTAGCCGCTCCAGCT	0.622000													Ovarian(109;252 1546 16882 28524 44645)											0							SO:0001819	synonymous_variant			ENST00000444623.1	1	1	hg19	CCDS58235.1	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575840	0.13623	.	.	ENSG00000139631	ENST00000379850	.	.	.	4.49	0.356	0.16074	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21075	-1.0256	4	.	.	.	-13.2112	3.9686	0.09443	0.1186:0.5019:0.2319:0.1476	.	.	.	.	T	514	.	.	A	-	1	0	CSAD	51838580	0.762000	0.28451	0.473000	0.27253	0.771000	0.43674	0.028000	0.13644	-0.247000	0.09597	-1.744000	0.00683	GCT		TCGA-HZ-8315-01A-11D-2396-08	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	1	0	1	32	202	0	40	1	7.789648e-01	4	16	0	40	2		0	0	0	0	0	2	1	1.000000	32	201	0	40	2		0	0	0	0	40	2	-3.321871	1	1	0	0		1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.990000	0.710000	1.000000	1.000000	0.943670	0.990000	1	8.400000e-01	1
NCKAP1L	3071	broad.mit.edu	37	12	54929924	54929924	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:54929924C>T	ENST00000293373.6	+	28	3047	c.2968C>T	c.(2968-2970)Cct>Tct	p.P990S	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.P940S	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like			80					TACTTCATCTCCTGAGGAGGA	0.443000																								0							SO:0001583	missense			ENST00000293373.6	1	1	hg19	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791160	0.31685	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.30981	1.51;1.51	4.31	0.435	0.16544	.	0.299519	0.32343	N	0.006238	T	0.15825	0.0381	N	0.17631	0.505	0.33491	D	0.58865	B	0.06786	0.001	B	0.10450	0.005	T	0.20338	-1.0278	10	0.21540	T	0.41	-4.5611	7.885	0.29644	0.0:0.6346:0.0:0.3654	.	990	P55160	NCKPL_HUMAN	S	990;940	ENSP00000293373:P990S;ENSP00000445596:P940S	ENSP00000293373:P990S	P	+	1	0	NCKAP1L	53216191	0.001000	0.12720	0.960000	0.40013	0.751000	0.42716	0.442000	0.21628	-0.017000	0.14103	0.655000	0.94253	CCT		TCGA-HZ-8315-01A-11D-2396-08	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	1	0	1	41	328	0	41	0	9.849181e-01	0	55	0	41	2		0	0	0	0	0	2	1	1.000000	40	325	0	41	2		0	0	0	0	41	2	-15.836590	1	1	0	0		1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.810000	0.600000	1.000000	1.000000	0.822718	0.810000	0	7.000000e-01	9.400000e-01
SLC26A10	65012	broad.mit.edu	37	12	58019519	58019519	+	Silent	SNP	C	C	T	rs145592443		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:58019519C>T	ENST00000320442.4	+	14	1994	c.1683C>T	c.(1681-1683)tgC>tgT	p.C561C	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10			19	Melanoma(17;0.122)				CACTGGGCTGCGGCAAGTGAG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000320442.4	1	1	hg19	CCDS8949.2																																																																																				TCGA-HZ-8315-01A-11D-2396-08	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2	1	0	1	42	246	0	42	0	8.935166e-01	0	25	0	42	2		0	0	0	0	0	2	1	1.000000	41	244	0	42	2		0	0	0	0	42	2	-3.323239	1	1	120168	14	42	1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.990000	0.790000	1.000000	1.000000	0.972912	0.990000	1	9.200000e-01	1
PTPN6	5777	broad.mit.edu	37	12	7061156	7061156	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061156C>G	ENST00000318974.9	+	3	386	c.142C>G	c.(142-144)Cag>Gag	p.Q48E	PTPN6_ENST00000447931.2_Missense_Mutation_p.Q9E|PTPN6_ENST00000399448.1_Missense_Mutation_p.Q50E|PTPN6_ENST00000456013.1_Missense_Mutation_p.Q48E	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6			18					GGTGGGGGATCAGGTGACCCA	0.597000																								0							SO:0001583	missense			ENST00000318974.9	0	1	hg19	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	1.112	-0.657924	0.03454	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96365	-2.33;-2.33;-3.99;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.75	3.85	0.44370	SH2 motif (5);	0.577535	0.17289	N	0.179712	T	0.82125	0.4969	N	0.00560	-1.38	0.09310	N	0.999992	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.72994	-0.4122	10	0.02654	T	1	.	8.6522	0.34042	0.0:0.766:0.1536:0.0804	.	36;9;48;48;50	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	E	69;50;9;48;48;48;48;48;7	ENSP00000443393:Q69E;ENSP00000382376:Q50E;ENSP00000415979:Q9E;ENSP00000438740:Q48E;ENSP00000326010:Q48E;ENSP00000391592:Q48E;ENSP00000444337:Q48E;ENSP00000445646:Q48E;ENSP00000440114:Q7E	ENSP00000326010:Q48E	Q	+	1	0	PTPN6	6931417	0.632000	0.27172	0.990000	0.47175	0.986000	0.74619	1.392000	0.34486	0.981000	0.38548	0.561000	0.74099	CAG		TCGA-HZ-8315-01A-11D-2396-08	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	0	0	0	17	189	0	30	1	9.959320e-01	21	82	0	30	2		0	0	0	0	0	2	1	0.999971	17	188	0	30	2		0	0	0	0	30	2	-19.998700	1	1	0	0		1	0	1	1	2.010562	0	0.270000	1.940000	0.268024	0.610000	0.370000	0.910000	0.600000	0.630208	0.610000	0	4.800000e-01	7.700000e-01
PTPN6	5777	broad.mit.edu	37	12	7061302	7061302	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7061302C>T	ENST00000318974.9	+	3	532	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PTPN6_ENST00000447931.2_Silent_p.L57L|PTPN6_ENST00000399448.1_Silent_p.L98L|PTPN6_ENST00000456013.1_Silent_p.L96L	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6			18					TCATCCACCTCAAGTACCCGC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000318974.9	1	1	hg19	CCDS44820.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	1	0	1	59	386	0	102	1	9.999031e-01	11	79	0	102	2		0	0	0	0	0	2	1	1.000000	59	384	0	101	2		0	0	0	0	102	2	-2.966662	1	1	0	0		1	0	1	1	2.010562	0	0.270000	1.940000	0.268024	0.970000	0.750000	1.000000	1.000000	0.945024	0.970000	1	8.600000e-01	1
C1S	716	broad.mit.edu	37	12	7173836	7173836	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:7173836A>G	ENST00000406697.1	+	11	1514	c.886A>G	c.(886-888)Aag>Gag	p.K296E	C1S_ENST00000328916.3_Missense_Mutation_p.K296E|C1S_ENST00000360817.5_Missense_Mutation_p.K296E|C1S_ENST00000402681.3_Missense_Mutation_p.K129E			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GCCCTGCCCTAAGGAAGACAC	0.418000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001583	missense			ENST00000406697.1	1	1	hg19	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	A	3.314	-0.140144	0.06669	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	D;D;D;D;T	0.84298	-1.78;-1.78;-1.78;-1.83;2.22	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.45361	D	0.000367	T	0.79046	0.4380	M	0.62266	1.93	0.09310	N	1	B	0.23249	0.082	B	0.25987	0.065	T	0.62544	-0.6832	10	0.06757	T	0.87	.	6.8762	0.24149	0.7708:0.1521:0.0771:0.0	.	296	P09871	C1S_HUMAN	E	296;296;296;284;129;129	ENSP00000385035:K296E;ENSP00000328173:K296E;ENSP00000354057:K296E;ENSP00000384171:K129E;ENSP00000442298:K129E	ENSP00000328173:K296E	K	+	1	0	C1S	7044097	0.010000	0.17322	0.152000	0.22495	0.176000	0.22953	1.798000	0.38814	2.124000	0.65301	0.460000	0.39030	AAG		TCGA-HZ-8315-01A-11D-2396-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1	31	205	0	32	1	1	2	1270	0	32	2		0	0	0	0	0	2	1	1.000000	30	205	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	2.010562	0	0.270000	1.940000	0.268024	0.960000	0.680000	1.000000	1.000000	0.926014	0.960000	1	8.100000e-01	1
LIN7A	8825	broad.mit.edu	37	12	81242056	81242056	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr12:81242056C>T	ENST00000552864.1	-	3	449	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)			15					GCACGGAATTCGGGACAGCCA	0.358000																								0							SO:0001583	missense			ENST00000552864.1	0	1	hg19	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762707	0.89932	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.27557	2.18;1.66	5.8	5.8	0.92144	L27, C-terminal (1);PDZ/DHR/GLGF (1);L27 (1);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	L	0.57536	1.79	0.80722	D	1	D	0.61697	0.99	P	0.55965	0.788	T	0.46289	-0.9202	10	0.87932	D	0	-17.324	20.0637	0.97700	0.0:1.0:0.0:0.0	.	83	O14910	LIN7A_HUMAN	K	83;77	ENSP00000447488:E83K;ENSP00000448975:E77K	ENSP00000261203:E83K	E	-	1	0	LIN7A	79766187	1.000000	0.71417	0.967000	0.41034	0.934000	0.57294	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	GAA		TCGA-HZ-8315-01A-11D-2396-08	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1	1	0	1	15	151	0	22	0	2.671175e-02	0	3	0	22	2		0	0	0	0	0	2	1	0.999887	15	149	0	20	2		0	0	0	0	22	2	-2.879519	1	1	121408	2	27	1	0	0	0	2.005592	0	0.270000	1.940000	0.266037	0.670000	0.390000	1.000000	1.000000	0.686750	0.670000	0	5.200000e-01	8.500000e-01
RASA3	22821	broad.mit.edu	37	13	114795342	114795342	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:114795342G>A	ENST00000334062.7	-	5	515	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	RASA3_ENST00000542651.1_Missense_Mutation_p.A100V|RASA3_ENST00000389544.4_Missense_Mutation_p.R100W	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3			47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)		TCGCTCAGCCGCAGCTCCAGG	0.642000																								0							SO:0001583	missense			ENST00000334062.7	0	1	hg19	CCDS32016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.176924|4.176924	0.78564|0.78564	.|.	.|.	ENSG00000185989|ENSG00000185989	ENST00000542651|ENST00000334062;ENST00000389544	T|T;T	0.18502|0.71934	2.21|-0.61;-0.61	4.5|4.5	-9.0|-9.0	0.00747|0.00747	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71281|0.71281	0.3321|0.3321	L|L	0.47716|0.47716	1.5|1.5	0.22305|0.22305	N|N	0.99922|0.99922	.|D	.|0.89917	.|1.0	.|P	.|0.60236	.|0.871	T|T	0.75150|0.75150	-0.3419|-0.3419	6|9	.|.	.|.	.|.	.|.	19.117|19.117	0.93344|0.93344	0.0:0.0:0.7474:0.2526|0.0:0.0:0.7474:0.2526	.|.	.|132	.|Q14644	.|RASA3_HUMAN	V|W	100|132;100	ENSP00000439008:A100V|ENSP00000335029:R132W;ENSP00000374195:R100W	.|.	A|R	-|-	2|1	0|2	RASA3|RASA3	113813444|113813444	1.000000|1.000000	0.71417|0.71417	0.423000|0.423000	0.26634|0.26634	0.966000|0.966000	0.64601|0.64601	1.343000|1.343000	0.33930|0.33930	-2.187000|-2.187000	0.00759|0.00759	-0.314000|-0.314000	0.08810|0.08810	GCG|CGG		TCGA-HZ-8315-01A-11D-2396-08	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045957.2	1	0	0	6	21	0	9	1	9.953876e-01	7	37	0	9	2		0	0	0	0	0	2	1	0.971191	6	21	0	9	2		0	0	0	0	9	2	-14.208020	1	1	118804	12	32	1	1	2	3	2.019451	0	0.270000	1.940000	0.271966	0.990000	0.690000	1.000000	1.000000	0.976766	0.990000	1	9.900000e-01	1
TRPC4	7223	broad.mit.edu	37	13	38225420	38225420	+	Silent	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr13:38225420T>C	ENST00000379705.3	-	8	2918	c.2061A>G	c.(2059-2061)gaA>gaG	p.E687E	TRPC4_ENST00000447043.1_Silent_p.E687E|TRPC4_ENST00000355779.2_Silent_p.E687E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Silent_p.E514E|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000379681.3_Silent_p.E687E|TRPC4_ENST00000379679.1_Silent_p.E514E|TRPC4_ENST00000358477.2_Silent_p.E687E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4			83					TTCCAAAACTTTCTGGCTTTC	0.368000																								0							SO:0001819	synonymous_variant			ENST00000379705.3	1	1	hg19	CCDS9365.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	1	0	0	60	363	0	59	0	1.532782e-01	0	5	0	59	2		0	0	0	0	0	2	1	1.000000	60	361	0	59	2		0	0	0	0	59	2	-20.000000	1	0	0	0		1	1	2	3	2.019451	0	0.270000	1.940000	0.271966	0.990000	0.820000	1.000000	1.000000	0.975081	0.990000	1	9.300000e-01	1
PTGR2	145482	broad.mit.edu	37	14	74345810	74345810	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr14:74345810C>G	ENST00000555661.1	+	6	676	c.531C>G	c.(529-531)ttC>ttG	p.F177L	PTGR2_ENST00000267568.4_Missense_Mutation_p.F177L|PTGR2_ENST00000553813.1_Missense_Mutation_p.F43L|RP5-1021I20.4_ENST00000556551.2_Intron|PTGR2_ENST00000555228.1_Missense_Mutation_p.F177L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2			9				Indomethacin(DB00328)	TTGGCCATTTCTTAGGTTGTT	0.353000													Esophageal Squamous(98;1155 1417 16452 47043 47872)											0							SO:0001583	missense			ENST00000555661.1	1	1	hg19	CCDS9820.1	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296449	0.10622	.	.	ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000140043;ENSG00000258653	ENST00000555228;ENST00000555661;ENST00000267568;ENST00000554885;ENST00000553813	T;T;T;T;T	0.03745	3.82;3.82;3.82;3.82;3.82	5.52	2.76	0.32466	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.256361	0.35870	N	0.002939	T	0.00468	0.0015	N	0.00006	-3.25	0.25447	N	0.988045	B	0.02656	0.0	B	0.01281	0.0	T	0.42666	-0.9438	10	0.02654	T	1	-0.5166	4.2981	0.10911	0.1348:0.1253:0.611:0.1289	.	177	Q8N8N7	PTGR2_HUMAN	L	177;177;177;128;43	ENSP00000450975:F177L;ENSP00000452280:F177L;ENSP00000267568:F177L;ENSP00000451158:F128L;ENSP00000450824:F43L	ENSP00000267568:F177L	F	+	3	2	RP5-1021I20.4;PTGR2	73415563	1.000000	0.71417	0.870000	0.34147	0.622000	0.37654	2.944000	0.49034	0.311000	0.23014	-0.759000	0.03464	TTC		TCGA-HZ-8315-01A-11D-2396-08	PTGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412575.1	1	0	1	71	501	0	91	1	6.438429e-01	5	12	0	91	2		0	0	0	0	0	2	1	1.000000	71	499	0	91	2		0	0	0	0	91	2	-20.000000	1	1	0	0		1	0	1	1	2.014250	0	0.270000	1.940000	0.269013	0.910000	0.720000	1.000000	1.000000	0.909464	0.910000	1	8.100000e-01	1
MVP	9961	broad.mit.edu	37	16	29852959	29852959	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:29852959G>A	ENST00000357402.5	+	9	1372	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E412K	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein			27					GACCCAGGACGAAGTCCTGTG	0.617000																								0							SO:0001583	missense			ENST00000357402.5	1	1	hg19	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241347	0.79912	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.14893	2.47;2.47	5.61	5.61	0.85477	.	0.148857	0.64402	D	0.000015	T	0.51500	0.1678	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	T	0.61855	-0.6977	10	0.59425	D	0.04	-11.9549	17.1387	0.86747	0.0:0.0:1.0:0.0	.	412	Q14764	MVP_HUMAN	K	412	ENSP00000349977:E412K;ENSP00000378760:E412K	ENSP00000349977:E412K	E	+	1	0	MVP	29760460	1.000000	0.71417	0.731000	0.30826	0.944000	0.59088	7.739000	0.84976	2.627000	0.88993	0.563000	0.77884	GAA		TCGA-HZ-8315-01A-11D-2396-08	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	1	0	1	14	76	0	23	1	1	118	376	0	23	2		0	0	0	0	0	2	1	0.999824	14	75	0	23	2		0	0	0	0	23	2	-19.999920	1	1	0	0		1	1	2	3	2.025407	0	0.270000	1.940000	0.271966	0.990000	0.680000	1.000000	1.000000	0.960655	0.990000	1	8.900000e-01	1
NOD2	64127	broad.mit.edu	37	16	50745886	50745886	+	Silent	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:50745886C>A	ENST00000300589.2	+	4	2169	c.2064C>A	c.(2062-2064)ggC>ggA	p.G688G	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2			52		all_cancers(37;0.0156)			AGCACTGGGGCCTGCTGGCTG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000300589.2	1	1	hg19	CCDS10746.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	1	0	1	33	211	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1.000000	33	210	0	40	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	1	2	3	2.025407	0	0.270000	1.940000	0.271966	0.990000	0.710000	1.000000	1.000000	0.943951	0.990000	1	8.500000e-01	1
TMEM208	29100	broad.mit.edu	37	16	67262758	67262758	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:67262758C>G	ENST00000304800.9	+	5	464	c.358C>G	c.(358-360)Ctc>Gtc	p.L120V	LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000565201.1_Missense_Mutation_p.L120V|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000393992.1_5'Flank|TMEM208_ENST00000563953.1_Missense_Mutation_p.L50V|TMEM208_ENST00000563426.1_Intron	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208			5		Ovarian(137;0.0563)			CTGCTTCTCTCTCTATGTCTG	0.522000																								0							SO:0001583	missense			ENST00000304800.9	1	1	hg19	CCDS45511.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813010	0.32053	.	.	ENSG00000168701	ENST00000304800	T	0.28666	1.6	5.62	5.62	0.85841	.	0.745366	0.11021	N	0.608350	T	0.34745	0.0908	L	0.59436	1.845	0.35503	D	0.799939	P	0.35656	0.514	B	0.31812	0.136	T	0.42783	-0.9431	10	0.33940	T	0.23	.	18.2269	0.89920	0.0:1.0:0.0:0.0	.	120	Q9BTX3	TM208_HUMAN	V	120	ENSP00000305892:L120V	ENSP00000305892:L120V	L	+	1	0	TMEM208	65820259	0.961000	0.32948	1.000000	0.80357	0.957000	0.61999	2.027000	0.41078	2.637000	0.89404	0.561000	0.74099	CTC		TCGA-HZ-8315-01A-11D-2396-08	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2	1	0	1	75	508	0	94	1	1	46	251	0	94	2		0	0	0	0	0	2	1	1.000000	72	500	0	91	2		0	0	0	0	94	2	-3.221885	1	1	0	0		1	1	2	3	2.017088	0	0.270000	1.940000	0.270984	0.950000	0.760000	1.000000	1.000000	0.934984	0.950000	1	8.500000e-01	1
CLEC18A	348174	broad.mit.edu	37	16	69988323	69988323	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr16:69988323G>T	ENST00000288040.6	+	3	490	c.303G>T	c.(301-303)tgG>tgT	p.W101C	CLEC18A_ENST00000449317.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000393701.2_Missense_Mutation_p.W101C|CLEC18A_ENST00000568461.1_Missense_Mutation_p.W101C	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A			5					CCGGCCTGTGGCGCACCCTGC	0.657000																								0							SO:0001583	missense			ENST00000288040.6	1	1	hg19	CCDS10886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.308|9.308	1.054888|1.054888	0.19907|0.19907	.|.	.|.	ENSG00000157322|ENSG00000157322	ENST00000545150|ENST00000393701;ENST00000539957;ENST00000449317;ENST00000288040	.|T;T;T	.|0.07444	.|3.19;3.19;3.19	1.76|1.76	-1.94|-1.94	0.07571|0.07571	.|CAP domain (3);	.|1.776390	.|0.02581	.|N	.|0.098870	T|T	0.05731|0.05731	0.0150|0.0150	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.50943	.|0.94;0.873;0.846	.|P;P;P	.|0.51701	.|0.677;0.579;0.517	T|T	0.05666|0.05666	-1.0871|-1.0871	5|9	.|.	.|.	.|.	.|.	2.0146|2.0146	0.03495|0.03495	0.3592:0.0:0.3832:0.2576|0.3592:0.0:0.3832:0.2576	.|.	.|101;101;101	.|B4DPF2;A5D8T8;F8W692	.|.;CL18A_HUMAN;.	S|C	100|101	.|ENSP00000377304:W101C;ENSP00000413990:W101C;ENSP00000288040:W101C	.|.	A|W	+|+	1|3	0|0	CLEC18A|CLEC18A	68545824|68545824	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.021000|0.021000	0.10359|0.10359	0.075000|0.075000	0.14686|0.14686	-0.471000|-0.471000	0.06891|0.06891	0.184000|0.184000	0.17185|0.17185	GCG|TGG		TCGA-HZ-8315-01A-11D-2396-08	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268955.2	1	0	0	15	184	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.999819	14	172	0	42	2		0	0	0	0	39	2	-6.476399	1	1	0	0		1	1	2	3	2.017088	0	0.270000	1.940000	0.270984	0.560000	0.330000	0.880000	0.550000	0.582210	0.560000	0	4.300000e-01	7.200000e-01
SPOP	8405	broad.mit.edu	37	17	47677787	47677787	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:47677787G>A	ENST00000393328.2	-	11	1443	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	SPOP_ENST00000347630.2_Nonsense_Mutation_p.Q360*|SPOP_ENST00000504102.1_Nonsense_Mutation_p.Q360*|SPOP_ENST00000393331.3_Nonsense_Mutation_p.Q360*|SPOP_ENST00000503676.1_Nonsense_Mutation_p.Q360*	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein			63					AAAGGGCACTGTGCTGAAGCC	0.527000										Prostate(2;0.17)														0							SO:0001587	stop_gained			ENST00000393328.2	0	1	hg19	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	40	8.243401	0.98722	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.4971	19.5069	0.95121	0.0:0.0:1.0:0.0	.	.	.	.	X	360;360;360;360;244;360;313	.	ENSP00000240327:Q360X	Q	-	1	0	SPOP	45032786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.621000	0.83083	2.941000	0.99782	0.655000	0.94253	CAG		TCGA-HZ-8315-01A-11D-2396-08	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	1	0	0	152	922	0	153	1	9.999995e-01	21	98	0	153	2		0	0	0	0	0	2	1	1.000000	151	911	0	152	2		0	0	0	0	153	2	-20.000000	1	1	0	0		1	1	2	3	2.027700	0	0.270000	1.940000	0.273921	0.990000	0.900000	1.000000	1.000000	0.989518	0.990000	1	9.700000e-01	1
APOH	350	broad.mit.edu	37	17	64225477	64225477	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:64225477G>A	ENST00000205948.6	-	1	58	c.21C>T	c.(19-21)atC>atT	p.I7I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)			17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		TCGAGAACAAGATGAGCACTG	0.388000													Melanoma(155;624 1882 16869 48804 51309)											0							SO:0001819	synonymous_variant			ENST00000205948.6	1	1	hg19	CCDS11663.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	1	0	1	24	165	0	30	0	4.738468e-01	0	12	0	30	2		0	0	0	0	0	2	1	1.000000	21	163	0	30	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	1	2	3	2.027700	0	0.270000	1.940000	0.273921	0.950000	0.630000	1.000000	1.000000	0.909698	0.950000	1	7.800000e-01	1
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		TCGA-HZ-8315-01A-11D-2396-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	34	201	0	52	1	9.925617e-01	15	33	0	52	2	1	1	149	657	0	894	2	1	1.000000	33	199	0	51	2		0	0	0	0	52	2	-20.000000	1	1	0	0		1	0	1	1	1.753571	1	0.270000	1.940000	0.156069	0.860000	0.640000	0.990000	0.910000	0.855573	0.860000	1	7.500000e-01	9.600000e-01
DNMT1	1786	broad.mit.edu	37	19	10257056	10257056	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:10257056C>T	ENST00000340748.4	-	27	3052	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	DNMT1_ENST00000359526.4_Silent_p.V955V|DNMT1_ENST00000540357.1_Silent_p.V939V|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1			70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGGGCAGGTACACACCATCAC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000340748.4	1	1	hg19	CCDS12228.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	1	0	0	22	209	0	43	0	8.542056e-01	0	35	0	43	2		0	0	0	0	0	2	1	0.999999	23	209	0	42	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1						0.270000	1.940000									0	0
LSM4	25804	broad.mit.edu	37	19	18420597	18420597	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:18420597G>A	ENST00000593829.1	-	4	472	c.219C>T	c.(217-219)gaC>gaT	p.D73D	LSM4_ENST00000252816.6_Silent_p.D59D	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)			6					CGATGATCTCGTCGGGGATGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000593829.1	1	1	hg19	CCDS12374.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1	1	0	1	37	174	0	33	1	1	56	141	0	33	2		0	0	0	0	0	2	1	1.000000	37	172	0	33	2		0	0	0	0	33	2	-20.000000	1	1	121406	1	26	1	0	0	0	1.968727	0	0.270000	1.940000	0.249743	0.990000	0.910000	1.000000	1.000000	0.995276	0.990000	1	9.900000e-01	1
ZNF43	7594	broad.mit.edu	37	19	21990677	21990677	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:21990677A>G	ENST00000354959.4	-	4	2331	c.2162T>C	c.(2161-2163)cTt>cCt	p.L721P	ZNF43_ENST00000594012.1_Missense_Mutation_p.L715P|ZNF43_ENST00000598381.1_Missense_Mutation_p.L715P|ZNF43_ENST00000595461.1_Missense_Mutation_p.L715P	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43			51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)			ATGTTCAATAAGGTTTGAGGA	0.358000																								0							SO:0001583	missense			ENST00000354959.4	1	1	hg19	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159953	0.38119	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.53857	0.6	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76033	0.3931	M	0.93808	3.46	0.23572	N	0.99739	D	0.89917	1.0	D	0.97110	1.0	T	0.62539	-0.6833	9	0.87932	D	0	.	8.2856	0.31926	1.0:0.0:0.0:0.0	.	721	P17038	ZNF43_HUMAN	P	720;721	ENSP00000347045:L721P	ENSP00000347045:L721P	L	-	2	0	ZNF43	21782517	0.247000	0.23920	0.003000	0.11579	0.850000	0.48378	2.617000	0.46385	0.808000	0.34231	0.254000	0.18369	CTT		TCGA-HZ-8315-01A-11D-2396-08	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	1	0	1	56	316	0	52	0	5.143540e-01	0	11	0	52	2		0	0	0	0	0	2	1	1.000000	56	310	0	51	2		0	0	0	0	52	2	-20.000000	1	1	0	0		1	0	0	0	1.968727	0	0.270000	1.940000	0.249743	0.990000	0.830000	1.000000	1.000000	0.981239	0.990000	1	9.500000e-01	1
CHST8	64377	broad.mit.edu	37	19	34180278	34180278	+	Silent	SNP	C	C	T	rs150945646		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:34180278C>T	ENST00000262622.4	+	2	869	c.111C>T	c.(109-111)ctC>ctT	p.L37L	CHST8_ENST00000438847.3_Silent_p.L37L|CHST8_ENST00000434302.1_Silent_p.L37L|CHST8_ENST00000604556.1_3'UTR	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8			27	Esophageal squamous(110;0.162)				CTACGGAGCTCGCCCCCCAGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000262622.4	1	1	hg19	CCDS12433.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	1	0	0	56	521	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1.000000	55	514	0	96	2		0	0	0	0	96	2	-2.920853	1	1	121406	11	44	1	0	0	0	1.968727	0	0.270000	1.940000	0.249743	0.690000	0.530000	0.870000	0.700000	0.705811	0.690000	0	6.100000e-01	7.900000e-01
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:43766196G>A	ENST00000270077.3	-	3	621	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000593948.1_Silent_p.D175D|PSG9_ENST00000244293.7_Silent_p.D175D|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9			41		Prostate(69;0.00682)			GGTAGCTTGCGTCCAGAGTCT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000270077.3	1	1	hg19	CCDS12618.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	0	0	1	777	1352	0	247		0	0	0	0	247	2		0	0	0	0	0	2	1	1.000000	773	1339	0	246	2		0	0	0	0	247	2	-20.000000	1	1	121412	1	43	1	1	4	5	2.702820	1	0.270000	1.940000	0.460199	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNC3	3748	broad.mit.edu	37	19	50823922	50823922	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:50823922G>A	ENST00000477616.1	-	3	2392	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	KCNC3_ENST00000474951.1_Missense_Mutation_p.R16C|KCNC3_ENST00000391818.2_Silent_p.A36A|KCNC3_ENST00000376959.2_Missense_Mutation_p.R700C	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3			13		all_neural(266;0.057)|Ovarian(192;0.208)		Dalfampridine(DB06637)	CGGCTATAGCGGCCACGGCTT	0.652000													Melanoma(91;1496 2324 50908)											0							SO:0001583	missense			ENST00000477616.1	1	1	hg19	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399766	0.42512	.	.	ENSG00000131398	ENST00000376959;ENST00000474951;ENST00000477616;ENST00000443843	D;D	0.99032	-5.29;-5.35	2.72	2.72	0.32119	.	1.188930	0.06896	U	0.805029	D	0.98454	0.9485	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.71414	0.973;0.876	D	0.95938	0.8944	10	0.87932	D	0	.	9.0178	0.36182	0.0:0.0:1.0:0.0	.	700;700	Q14003;E7ETH1	KCNC3_HUMAN;.	C	700;16;700;514	ENSP00000366158:R700C;ENSP00000434241:R700C	ENSP00000366158:R700C	R	-	1	0	KCNC3	55515734	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	3.340000	0.52143	1.540000	0.49301	0.460000	0.39030	CGC		TCGA-HZ-8315-01A-11D-2396-08	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	1	0	1	27	174	0	33	1	1.972223e-01	3	3	0	33	2		0	0	0	0	0	2	1	1.000000	27	170	0	32	2		0	0	0	0	33	2	-13.862510	1	1	121400	6	35	1	1	2	3	2.051604	0	0.270000	1.940000	0.277800	0.990000	0.690000	1.000000	1.000000	0.942602	0.990000	1	8.400000e-01	1
ZNF320	162967	broad.mit.edu	37	19	53384748	53384748	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:53384748G>A	ENST00000595635.1	-	8	1132	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.H211Y|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320			24					TCTCCCCTGTGAATTCTAGTA	0.378000																								0							SO:0001583	missense			ENST00000595635.1	1	1	hg19	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	18.41	3.616954	0.66672	.	.	ENSG00000182986	ENST00000391781	T	0.67523	-0.27	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84602	0.5508	H	0.94698	3.57	0.32028	N	0.599881	D	0.89917	1.0	D	0.87578	0.998	D	0.85343	0.1097	9	0.72032	D	0.01	.	10.504	0.44823	0.0:0.0:1.0:0.0	.	211	A2RRD8	ZN320_HUMAN	Y	211	ENSP00000375660:H211Y	ENSP00000375660:H211Y	H	-	1	0	ZNF320	58076560	0.994000	0.37717	0.002000	0.10522	0.509000	0.34042	2.912000	0.48782	0.960000	0.38005	0.194000	0.17425	CAC		TCGA-HZ-8315-01A-11D-2396-08	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	1	0	1	66	417	0	80	1	9.634747e-01	4	32	0	80	2		0	0	0	0	0	2	1	1.000000	65	414	0	79	2		0	0	0	0	80	2	-20.000000	1	1	0	0		1	1	2	3	2.051604	0	0.270000	1.940000	0.277800	0.990000	0.800000	1.000000	1.000000	0.968927	0.990000	1	9.100000e-01	1
MUC16	94025	broad.mit.edu	37	19	9026241	9026241	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9026241G>A	ENST00000397910.4	-	14	36948	c.36745C>T	c.(36745-36747)Cgc>Tgc	p.R12249C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GAGCCAGTGCGACGCATGTCC	0.552000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.444	0.450006	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.39056	1.1	2.58	0.112	0.14623	.	.	.	.	.	T	0.29524	0.0736	M	0.71581	2.175	.	.	.	P	0.46277	0.875	B	0.28553	0.091	T	0.39121	-0.9629	8	0.87932	D	0	.	3.3118	0.07020	0.1519:0.0:0.5975:0.2506	.	12249	B5ME49	.	C	12249	ENSP00000381008:R12249C	ENSP00000381008:R12249C	R	-	1	0	MUC16	8887241	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.995000	0.01472	0.109000	0.17891	0.195000	0.17529	CGC		TCGA-HZ-8315-01A-11D-2396-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	102	555	0	152	1	8.170057e-01	19	0	0	152	2		0	0	0	0	0	2	1	1.000000	101	550	0	151	2		0	0	0	0	152	2	-20.000000	1	1	121040	2	36	1	0	1	1	1.750363	1	0.270000	1.940000	0.156069	0.930000	0.790000	1.000000	0.990000	0.929411	0.930000	1	8.600000e-01	9.800000e-01
MUC16	94025	broad.mit.edu	37	19	9047967	9047967	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr19:9047967A>G	ENST00000397910.4	-	5	33867	c.33664T>C	c.(33664-33666)Ttt>Ctt	p.F11222L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					AGATTTGAAAACGCACTGGTC	0.478000																								0							SO:0001583	missense			ENST00000397910.4	0	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	8.449	0.852667	0.17106	.	.	ENSG00000181143	ENST00000397910	T	0.02446	4.29	3.15	-6.29	0.02013	.	.	.	.	.	T	0.02533	0.0077	L	0.34521	1.04	.	.	.	B	0.23735	0.09	B	0.30029	0.11	T	0.41752	-0.9491	8	0.87932	D	0	.	5.9379	0.19175	0.2189:0.4934:0.0:0.2877	.	11222	B5ME49	.	L	11222	ENSP00000381008:F11222L	ENSP00000381008:F11222L	F	-	1	0	MUC16	8908967	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.762000	0.04745	-2.422000	0.00563	0.398000	0.26397	TTT		TCGA-HZ-8315-01A-11D-2396-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	13	117	0	24	1	4.738197e-01	14	1	0	24	2		0	0	0	0	0	2	1	0.999606	12	117	0	24	2		0	0	0	0	24	2	-19.718750	1	1	0	0		1	0	1	1	1.750363	1	0.270000	1.940000	0.156069	0.620000	0.360000	0.920000	0.620000	0.640900	0.620000	0	4.800000e-01	7.900000e-01
AMY2A	279	broad.mit.edu	37	1	104160219	104160219	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:104160219G>C	ENST00000414303.2	+	1	221	c.157G>C	c.(157-159)Gga>Cga	p.G53R		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)			22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	GAAGGGATTTGGAGGGGTTCA	0.408000																								0							SO:0001583	missense			ENST00000414303.2	1	1	hg19	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.95|13.95	2.389476|2.389476	0.42410|0.42410	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	D|.	0.98249|.	-4.82|.	3.22|3.22	3.22|3.22	0.36961|0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);|.	0.049955|.	0.85682|.	D|.	0.000000|.	T|T	0.75613|0.75613	0.3873|0.3873	M|M	0.89534|0.89534	3.04|3.04	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.994;0.996|.	T|T	0.81378|0.81378	-0.0960|-0.0960	10|5	0.87932|.	D|.	0|.	.|.	14.5293|14.5293	0.67912|0.67912	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53;53|.	B9EJG1;P04746|.	.;AMYP_HUMAN|.	R|S	53|51	ENSP00000397582:G53R|.	ENSP00000377509:G53R|.	G|W	+|+	1|2	0|0	AMY2A|AMY2A	103961742|103961742	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.031000|0.031000	0.12232|0.12232	8.935000|8.935000	0.92923|0.92923	1.784000|1.784000	0.52394|0.52394	0.455000|0.455000	0.32223|0.32223	GGA|TGG		TCGA-HZ-8315-01A-11D-2396-08	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	1	0	1	117	594	0	141	0	1	0	162	0	141	2		0	0	0	0	0	2	1	1.000000	71	430	0	156	2		0	0	0	0	141	2	-20.000000	1	1	0	0		1	1	2	3	2.045032	0	0.270000	1.940000	0.276834	0.990000	0.990000	1.000000	1.000000	0.999725	0.990000	1	9.900000e-01	1
ATAD3C	219293	broad.mit.edu	37	1	1389850	1389850	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:1389850G>A	ENST00000378785.2	+	4	1343	c.348G>A	c.(346-348)acG>acA	p.T116T		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C			7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			CCCGCATCACGGTGCTTGAGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000378785.2	0	1	hg19	CCDS44039.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	1	0	0	4	85	0	19	0	3.583373e-03	0	2	0	19	2		0	0	0	0	0	2	1	0.891987	4	85	0	19	2		0	0	0	0	19	2	-7.442292	1	0	0	0		1	1	2	3	2.037207	0	0.270000	1.940000	0.275865	0.380000	0.120000	1.000000	0.330000	0.426281	0.380000	0	2.300000e-01	6.100000e-01
PINK1	65018	broad.mit.edu	37	1	20964418	20964418	+	Silent	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:20964418G>C	ENST00000321556.4	+	2	565	c.471G>C	c.(469-471)ctG>ctC	p.L157L		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1			14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			AGGAGTATCTGATAGGGCAGT	0.547000													Esophageal Squamous(145;853 1803 8146 34412 35011)											0							SO:0001819	synonymous_variant			ENST00000321556.4	1	1	hg19	CCDS211.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	1	0	1	52	346	0	67	1	1	40	189	0	67	2		0	0	0	0	0	2	1	1.000000	52	341	0	67	2		0	0	0	0	67	2	-20.000000	1	1	0	0		1	1	2	3	2.037843	0	0.270000	1.940000	0.275865	0.980000	0.740000	1.000000	1.000000	0.943427	0.980000	1	8.500000e-01	1
PLCH2	9651	broad.mit.edu	37	1	2418364	2418364	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:2418364G>A	ENST00000419816.2	+	6	1109	c.835G>A	c.(835-837)Gag>Aag	p.E279K	PLCH2_ENST00000378486.3_Missense_Mutation_p.E279K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E279K|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000449969.1_Missense_Mutation_p.E252K			O75038	PLCH2_HUMAN	phospholipase C, eta 2			20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)			TGTGACCCTCGAGAGCTGCCA	0.627000																								0							SO:0001583	missense			ENST00000419816.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.95	2.983526	0.53827	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.19938	2.11;2.11;2.11	3.87	3.87	0.44632	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.120124	0.56097	D	0.000039	T	0.42787	0.1218	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.69078	0.995;0.997;0.942;0.991	P;D;P;P	0.67548	0.869;0.952;0.563;0.876	T	0.34329	-0.9833	10	0.37606	T	0.19	.	14.9819	0.71316	0.0:0.0:1.0:0.0	.	126;67;252;279	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	K	252;279;279;126;67	ENSP00000397289:E252K;ENSP00000367747:E279K;ENSP00000367749:E279K	ENSP00000278878:E67K	E	+	1	0	PLCH2	2408224	1.000000	0.71417	0.844000	0.33320	0.547000	0.35210	6.280000	0.72626	2.006000	0.58801	0.561000	0.74099	GAG		TCGA-HZ-8315-01A-11D-2396-08	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	1	0	1	10	54	0	9	0	2.659207e-01	1	5	0	9	2		0	0	0	0	0	2	1	0.997454	10	53	0	9	2		0	0	0	0	9	2	-18.299340	1	1	120952	1	31	1	1	2	3	2.037207	0	0.270000	1.940000	0.275865	0.990000	0.620000	1.000000	1.000000	0.952489	0.990000	1	8.700000e-01	1
COL16A1	1307	broad.mit.edu	37	1	32137235	32137235	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:32137235G>A	ENST00000373672.3	-	48	3647	c.3131C>T	c.(3130-3132)cCg>cTg	p.P1044L	COL16A1_ENST00000271069.6_Missense_Mutation_p.P1044L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1			48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)			TGGAGGACCCGGGGAGCCCCT	0.602000													Colon(143;498 1786 21362 25193 36625)											0							SO:0001583	missense			ENST00000373672.3	1	1	hg19	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217879	0.58560	0.0	2.43E-4	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.94184	-3.37;-3.17	5.21	5.21	0.72293	.	0.218028	0.39834	N	0.001253	D	0.96352	0.8810	M	0.78285	2.405	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96373	0.9275	10	0.62326	D	0.03	.	14.6242	0.68608	0.0:0.0:1.0:0.0	.	1044;1044	Q07092;Q07092-2	COGA1_HUMAN;.	L	1044	ENSP00000362776:P1044L;ENSP00000271069:P1044L	ENSP00000271069:P1044L	P	-	2	0	COL16A1	31909822	1.000000	0.71417	0.957000	0.39632	0.844000	0.47949	3.842000	0.55858	2.599000	0.87857	0.655000	0.94253	CCG		TCGA-HZ-8315-01A-11D-2396-08	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	1	0	1	21	147	0	30	1	9.999991e-01	13	164	0	30	2		0	0	0	0	0	2	1	0.999998	20	147	0	30	2		0	0	0	0	30	2	-2.668485	1	1	120852	23	43	1	1	2	3	2.037843	0	0.270000	1.940000	0.275865	0.940000	0.610000	1.000000	1.000000	0.901949	0.940000	1	7.600000e-01	1
ZNF362	149076	broad.mit.edu	37	1	33745956	33745956	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:33745956G>A	ENST00000539719.1	+	5	751	c.581G>A	c.(580-582)cGc>cAc	p.R194H	ZNF362_ENST00000373428.5_Missense_Mutation_p.R194H	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362			10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)			GAACGCGGCCGCAAAAAGATC	0.647000													Pancreas(162;1431 2676 35353 38425)											0							SO:0001583	missense			ENST00000539719.1	0	1	hg19	CCDS377.1	.	.	.	.	.	.	.	.	.	.	G	36	5.713649	0.96830	.	.	ENSG00000160094	ENST00000483388;ENST00000539719;ENST00000373428	T;T	0.09163	3.01;3.01	5.99	5.99	0.97316	.	0.468737	0.18085	N	0.152172	T	0.37404	0.1002	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.02512	-1.1148	10	0.87932	D	0	-36.2752	18.0311	0.89285	0.0:0.0:1.0:0.0	.	194	Q5T0B9	ZN362_HUMAN	H	181;194;194	ENSP00000446335:R194H;ENSP00000362527:R194H	ENSP00000362527:R194H	R	+	2	0	ZNF362	33518543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.314000	0.96306	2.857000	0.98124	0.650000	0.86243	CGC		TCGA-HZ-8315-01A-11D-2396-08	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011857.2	0	0	0	6	251	0	38	0	4.163360e-01	0	54	0	38	2		0	0	0	0	0	2	1	0.964198	6	248	0	37	2		0	0	0	0	38	2	-2.803090	1	1	0	0		1	1	2	3	2.037843	0	0.270000	1.940000	0.275865	0.190000	0.070000	1.000000	0.170000	0.237351	0.190000	0	1.200000e-01	2.900000e-01
DOCK7	85440	broad.mit.edu	37	1	62954668	62954668	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:62954668A>C	ENST00000340370.5	-	41	5354	c.5337T>G	c.(5335-5337)gaT>gaG	p.D1779E	DOCK7_ENST00000251157.5_Missense_Mutation_p.D1801E	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7			92					GTTTCTTTGCATCCCGATTAG	0.328000																								0							SO:0001583	missense			ENST00000340370.5	1	1	hg19	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.05|17.05	3.289641|3.289641	0.59976|0.59976	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000454575|ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.|T;T	.|0.05319	.|3.46;3.46	5.74|5.74	0.777|0.777	0.18538|0.18538	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.07908|0.07908	0.0198|0.0198	L|L	0.46885|0.46885	1.475|1.475	0.58432|0.58432	D|D	0.999998|0.999998	.|B;P;P;P;P;P	.|0.51351	.|0.264;0.46;0.944;0.765;0.494;0.627	.|B;B;P;B;B;B	.|0.46659	.|0.171;0.307;0.523;0.441;0.262;0.399	T|T	0.27673|0.27673	-1.0067|-1.0067	5|10	.|0.36615	.|T	.|0.2	.|.	9.7468|9.7468	0.40451|0.40451	0.7365:0.0:0.2635:0.0|0.7365:0.0:0.2635:0.0	.|.	.|1810;1801;1779;1770;1770;1801	.|Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.|DOCK7_HUMAN;.;.;.;.;.	G|E	973|1810;1801;1779;540	.|ENSP00000251157:D1801E;ENSP00000340742:D1779E	.|ENSP00000251157:D1801E	C|D	-|-	1|3	0|2	DOCK7|DOCK7	62727256|62727256	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.731000|0.731000	0.26058|0.26058	0.120000|0.120000	0.18254|0.18254	0.482000|0.482000	0.46254|0.46254	TGC|GAT		TCGA-HZ-8315-01A-11D-2396-08	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	1	0	1	34	259	0	48	1	9.978092e-01	16	58	0	48	2		0	0	0	0	0	2	1	1.000000	34	258	0	48	2		0	0	0	0	48	2	-14.474980	1	1	0	0		1	1	2	3	2.037843	0	0.270000	1.940000	0.275865	0.870000	0.620000	1.000000	1.000000	0.868529	0.870000	1	7.300000e-01	1
TCTEX1D1	200132	broad.mit.edu	37	1	67242967	67242967	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr1:67242967C>T	ENST00000282670.2	+	5	498	c.370C>T	c.(370-372)Cca>Tca	p.P124S		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1			13					CTTGATGATTCCACGGTATAA	0.383000																								0							SO:0001583	missense			ENST00000282670.2	1	1	hg19	CCDS633.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582064	0.46006	.	.	ENSG00000152760	ENST00000282670	T	0.31247	1.5	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.38692	0.1050	M	0.75264	2.295	0.80722	D	1	P	0.42123	0.771	P	0.48334	0.574	T	0.10154	-1.0642	10	0.44086	T	0.13	-5.2119	19.7289	0.96175	0.0:1.0:0.0:0.0	.	124	Q8N7M0	TC1D1_HUMAN	S	124	ENSP00000282670:P124S	ENSP00000282670:P124S	P	+	1	0	TCTEX1D1	67015555	1.000000	0.71417	0.977000	0.42913	0.029000	0.11900	5.357000	0.66058	2.770000	0.95276	0.655000	0.94253	CCA		TCGA-HZ-8315-01A-11D-2396-08	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	1	0	1	73	515	0	65	0	7.970409e-02	0	4	0	65	2		0	0	0	0	0	2	1	1.000000	72	513	0	65	2		0	0	0	0	65	2	-20.000000	1	1	0	0		1	1	2	3	2.037843	0	0.270000	1.940000	0.275865	0.930000	0.730000	1.000000	1.000000	0.920342	0.930000	1	8.200000e-01	1
ISM1	140862	broad.mit.edu	37	20	13260457	13260457	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor			17					GTACCTCAGACGACAGCAACT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000262487.4	1	1	hg19	CCDS46579.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2	1	0	1	34	309	0	62	0	9.922688e-01	0	71	0	62	2		0	0	0	0	0	2	1	1.000000	34	305	0	62	2		0	0	0	0	62	2	-9.746629	1	1	120832	17	43	1	0	0	0	2.006643	0	0.270000	1.940000	0.266037	0.720000	0.510000	0.970000	0.720000	0.740312	0.720000	0	6.100000e-01	8.500000e-01
PLTP	5360	broad.mit.edu	37	20	44539794	44539794	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:44539794G>C	ENST00000477313.1	-	2	791	c.197C>G	c.(196-198)tCt>tGt	p.S66C	PLTP_ENST00000542937.1_Missense_Mutation_p.S86C|PLTP_ENST00000372431.3_Missense_Mutation_p.S66C|PLTP_ENST00000354050.4_Missense_Mutation_p.S66C|PLTP_ENST00000420868.2_Missense_Mutation_p.S66C|PLTP_ENST00000372420.1_5'Flank			P55058	PLTP_HUMAN	phospholipid transfer protein			21		Myeloproliferative disorder(115;0.0122)			CACTTACTCAGAGATGTTGTA	0.637000																								0							SO:0001583	missense			ENST00000477313.1	1	1	hg19	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886362	0.72410	.	.	ENSG00000100979	ENST00000372431;ENST00000354050;ENST00000477313;ENST00000542937;ENST00000420868	T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.41	5.07	5.07	0.68467	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.208418	0.48767	D	0.000178	T	0.24275	0.0588	M	0.64997	1.995	0.49687	D	0.999818	D;D;D;D;D;D	0.76494	0.994;0.997;0.999;0.999;0.999;0.999	P;P;D;D;D;D	0.70227	0.819;0.819;0.968;0.946;0.968;0.968	T	0.00086	-1.2094	10	0.62326	D	0.03	.	12.8555	0.57882	0.0:0.2974:0.7026:0.0	.	66;66;66;66;66;86	E7EV16;B4DRB4;Q53H91;P55058-2;P55058;B3KUE5	.;.;.;.;PLTP_HUMAN;.	C	66;66;66;86;66	ENSP00000361508:S66C;ENSP00000335290:S66C;ENSP00000417138:S66C;ENSP00000440296:S86C;ENSP00000411671:S66C	ENSP00000335290:S66C	S	-	2	0	PLTP	43973201	0.997000	0.39634	0.964000	0.40570	0.993000	0.82548	2.708000	0.47152	2.636000	0.89361	0.467000	0.42956	TCT		TCGA-HZ-8315-01A-11D-2396-08	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	1	0	1	71	447	0	98	1	1	4	197	0	98	2		0	0	0	0	0	2	1	1.000000	70	443	0	97	2		0	0	0	0	98	2	-3.075803	1	1	0	0		1	0	0	0	2.006643	0	0.270000	1.940000	0.266037	0.990000	0.800000	1.000000	1.000000	0.962854	0.990000	1	8.900000e-01	1
KCNB1	3745	broad.mit.edu	37	20	47990731	47990731	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:47990731G>A	ENST00000371741.4	-	2	1532	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1			53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	Dalfampridine(DB06637)	TCAATGCTCCGGGCAAAAGCA	0.453000																								0							SO:0001583	missense			ENST00000371741.4	1	1	hg19	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650170	0.67472	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96940	-4.18	5.77	4.81	0.61882	.	0.068374	0.64402	D	0.000015	D	0.97660	0.9233	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98457	1.0594	10	0.72032	D	0.01	.	16.1196	0.81342	0.0:0.0:0.8649:0.135	.	456	Q14721	KCNB1_HUMAN	W	456;411	ENSP00000360806:R456W	ENSP00000360806:R456W	R	-	1	2	KCNB1	47424138	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.569000	0.73992	1.552000	0.49463	0.655000	0.94253	CGG		TCGA-HZ-8315-01A-11D-2396-08	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	1	0	1	106	661	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1.000000	106	657	0	112	2		0	0	0	0	112	2	-2.443734	0	1	0	0		1	0	0	0	2.007955	0	0.270000	1.940000	0.266037	0.990000	0.840000	1.000000	1.000000	0.973316	0.990000	1	9.200000e-01	1
ADNP	23394	broad.mit.edu	37	20	49510803	49510803	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr20:49510803C>T	ENST00000396029.3	-	5	1015	c.448G>A	c.(448-450)Gat>Aat	p.D150N	ADNP_ENST00000349014.3_Missense_Mutation_p.D150N|ADNP_ENST00000396032.3_Missense_Mutation_p.D150N|ADNP_ENST00000371602.4_Missense_Mutation_p.D150N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox			39					TTAAGGCCATCATTTTTGTTT	0.398000																								0							SO:0001583	missense			ENST00000396029.3	1	1	hg19	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251232	0.39797	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.87	5.87	0.94306	.	0.086182	0.85682	D	0.000000	T	0.59473	0.2196	N	0.19112	0.55	0.48571	D	0.999676	B	0.31318	0.319	B	0.29598	0.104	T	0.55535	-0.8126	10	0.31617	T	0.26	-14.7975	20.206	0.98277	0.0:1.0:0.0:0.0	.	150	Q9H2P0	ADNP_HUMAN	N	150	ENSP00000360662:D150N;ENSP00000342905:D150N;ENSP00000379346:D150N;ENSP00000379349:D150N;ENSP00000436181:D150N	ENSP00000342905:D150N	D	-	1	0	ADNP	48944210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.286000	0.58995	2.785000	0.95823	0.655000	0.94253	GAT		TCGA-HZ-8315-01A-11D-2396-08	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	1	0	1	127	895	0	154	1	9.999262e-01	20	75	0	154	2		0	0	0	0	0	2	1	1.000000	127	888	0	153	2		0	0	0	0	154	2	-20.000000	1	1	0	0		1	0	0	0	2.007955	0	0.270000	1.940000	0.266037	0.910000	0.760000	1.000000	1.000000	0.912477	0.910000	1	8.300000e-01	9.900000e-01
ADAMTS5	11096	broad.mit.edu	37	21	28296738	28296738	+	Silent	SNP	G	G	A	rs11911960	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr21:28296738G>A	ENST00000284987.5	-	8	2548	c.2427C>T	c.(2425-2427)agC>agT	p.S809S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5			72					GGCTCCAACCGCTATAGTTCA	0.443000													Esophageal Squamous(53;683 1080 10100 14424 45938)											0							SO:0001819	synonymous_variant			ENST00000284987.5	1	0	hg19	CCDS13579.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	1	0	1	118	742	0	132	0	2.504840e-01	0	7	0	132	2		0	0	0	0	0	2	1	1.000000	118	731	0	132	2		0	0	0	0	132	2	-8.465305	1	1	121412	295	59	1	1	2	3	2.017182	0	0.270000	1.940000	0.270984	0.990000	0.850000	1.000000	1.000000	0.974852	0.990000	1	9.200000e-01	1
THOC5	8563	broad.mit.edu	37	22	29913325	29913325	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr22:29913325C>A	ENST00000490103.1	-	16	1642	c.1520G>T	c.(1519-1521)tGc>tTc	p.C507F	THOC5_ENST00000397873.2_Missense_Mutation_p.C507F|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.C507F|THOC5_ENST00000397872.1_Missense_Mutation_p.C507F	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5			21					GAGGTACTGGCAATCACTGGT	0.488000																								0							SO:0001583	missense			ENST00000490103.1	1	1	hg19	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760500	0.89932	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.39358	0.1075	M	0.65975	2.015	0.80722	D	1	D	0.55605	0.972	P	0.47528	0.549	T	0.19943	-1.0290	10	0.56958	D	0.05	-28.072	19.6653	0.95890	0.0:1.0:0.0:0.0	.	507	Q13769	THOC5_HUMAN	F	507	ENSP00000420306:C507F;ENSP00000380970:C507F;ENSP00000380969:C507F;ENSP00000380971:C507F	ENSP00000380969:C507F	C	-	2	0	THOC5	28243325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.792000	0.69052	2.733000	0.93635	0.655000	0.94253	TGC		TCGA-HZ-8315-01A-11D-2396-08	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	1	0	1	22	140	0	29	1	9.993355e-01	19	59	0	29	2		0	0	0	0	0	2	1	0.999999	22	139	0	28	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	1	2	3	2.025855	0	0.270000	1.940000	0.271966	0.990000	0.660000	1.000000	1.000000	0.934321	0.990000	1	8.200000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	125281910	125281910	+	Missense_Mutation	SNP	C	C	T	rs17727261	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:125281910C>T	ENST00000431078.1	+	9	1719	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					CTGTGGCACTCGGTTAGCATC	0.522000																								0							SO:0001583	missense			ENST00000431078.1	1	0	hg19	CCDS46401.1	59	0.027014652014652016	2	0.0040650406504065045	9	0.024861878453038673	0	0.0	48	0.0633245382585752	C	15.22	2.768382	0.49680	0.005532	0.050866	ENSG00000155052	ENST00000431078	T	0.79033	-1.23	5.95	5.95	0.96441	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.339680	0.21126	N	0.079740	T	0.34250	0.0891	M	0.66439	2.03	0.44337	D	0.997224	B	0.14805	0.011	B	0.11329	0.006	T	0.61584	-0.7033	10	0.54805	T	0.06	.	19.3736	0.94500	0.0:1.0:0.0:0.0	rs17727261;rs52806650;rs17727261	452	Q8WYK1	CNTP5_HUMAN	L	452	ENSP00000399013:S452L	ENSP00000399013:S452L	S	+	2	0	CNTNAP5	124998380	0.758000	0.28405	0.908000	0.35775	0.349000	0.29174	1.421000	0.34815	2.825000	0.97269	0.655000	0.94253	TCG		TCGA-HZ-8315-01A-11D-2396-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	0	0	1	32	186	0	39	0	0	0	1	0	39	2		0	0	0	0	0	2	1	1.000000	32	185	0	39	2		0	0	0	0	39	2	-2.427948	0	1	121040	4107	67	1	1	2	3	2.018485	0	0.270000	1.940000	0.270984	0.990000	0.770000	1.000000	1.000000	0.970097	0.990000	1	9.100000e-01	1
THSD7B	80731	broad.mit.edu	37	2	138208441	138208441	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:138208441C>T	ENST00000409968.1	+	15	3164	c.2986C>T	c.(2986-2988)Ccc>Tcc	p.P996S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P996S|THSD7B_ENST00000413152.2_Missense_Mutation_p.P965S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B			134					ATGTGTCATTCCCTGCCCATT	0.363000																								0							SO:0001583	missense			ENST00000409968.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.22	3.784951	0.70222	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.62232	2.24;0.04;0.04	5.83	5.83	0.93111	.	0.056119	0.64402	N	0.000001	T	0.78272	0.4257	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74668	-0.3588	10	0.38643	T	0.18	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	965	C9JKN6	.	S	996;996;965	ENSP00000387145:P996S;ENSP00000272643:P996S;ENSP00000413841:P965S	ENSP00000272643:P996S	P	+	1	0	THSD7B	137924911	1.000000	0.71417	0.951000	0.38953	0.314000	0.28054	4.906000	0.63293	2.776000	0.95493	0.650000	0.86243	CCC		TCGA-HZ-8315-01A-11D-2396-08	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	0	0	1	31	159	0	25	0	5.110579e-01	0	10	0	25	2		0	0	0	0	0	2	1	1.000000	31	158	0	25	2		0	0	0	0	25	2	-17.608500	1	1	0	0		1	1	2	3	2.018485	0	0.270000	1.940000	0.270984	0.990000	0.850000	1.000000	1.000000	0.989123	0.990000	1	9.900000e-01	1
SCN1A	6323	broad.mit.edu	37	2	166904211	166904211	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:166904211C>G	ENST00000303395.4	-	8	1095	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D366H|SCN1A_ENST00000409050.1_Missense_Mutation_p.D366H|SCN1A_ENST00000423058.2_Missense_Mutation_p.D366H|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAAGGTATCAAAGCTTGTG	0.418000																								0							SO:0001583	missense			ENST00000303395.4	1	1	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006572	0.74932	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99149	0.9706	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.97110	0.789;1.0;0.998	D	0.98988	1.0807	10	0.87932	D	0	.	18.6483	0.91419	0.0:1.0:0.0:0.0	.	366;366;366	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	H	366	ENSP00000407030:D366H;ENSP00000303540:D366H;ENSP00000364554:D366H;ENSP00000386312:D366H	ENSP00000303540:D366H	D	-	1	0	SCN1A	166612457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.773000	0.85462	2.492000	0.84095	0.655000	0.94253	GAT		TCGA-HZ-8315-01A-11D-2396-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	72	495	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1.000000	72	494	0	104	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	1	2	3	2.018485	0	0.270000	1.940000	0.270984	0.930000	0.740000	1.000000	1.000000	0.926408	0.930000	1	8.300000e-01	1
HECW2	57520	broad.mit.edu	37	2	197183345	197183345	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:197183345C>T	ENST00000260983.3	-	9	2451	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K	HECW2_ENST00000409111.1_Missense_Mutation_p.E401K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					GCACTGCCTTCTTCTTGCGGT	0.657000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	8.519	0.868363	0.17250	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.32515	1.45;1.48	4.91	4.91	0.64330	.	1.013590	0.07918	N	0.975412	T	0.22742	0.0549	N	0.19112	0.55	0.33047	D	0.532252	B	0.23316	0.083	B	0.19946	0.027	T	0.04781	-1.0927	10	0.07813	T	0.8	.	16.4632	0.84070	0.0:1.0:0.0:0.0	.	757	Q9P2P5	HECW2_HUMAN	K	401;757	ENSP00000386775:E401K;ENSP00000260983:E757K	ENSP00000260983:E757K	E	-	1	0	HECW2	196891590	1.000000	0.71417	0.057000	0.19452	0.030000	0.12068	5.590000	0.67530	2.558000	0.86282	0.462000	0.41574	GAA		TCGA-HZ-8315-01A-11D-2396-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	42	244	0	62	0	3.969538e-01	0	9	0	62	2		0	0	0	0	0	2	1	1.000000	42	240	0	61	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	0	1	1	2.014552	0	0.270000	1.940000	0.269013	0.990000	0.800000	1.000000	1.000000	0.975877	0.990000	1	9.300000e-01	1
CYP26B1	56603	broad.mit.edu	37	2	72362468	72362468	+	Silent	SNP	G	G	A	rs145145054		TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr2:72362468G>A	ENST00000001146.2	-	3	713	c.510C>T	c.(508-510)cgC>cgT	p.R170R	CYP26B1_ENST00000546307.1_Silent_p.R95R|CYP26B1_ENST00000412253.1_5'UTR	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1			28					TGCTCCAGGCGCGCAGTGTGT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000001146.2	1	1	hg19	CCDS1919.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	1	0	1	78	456	0	97	1	1.601893e-01	2	3	0	97	2		0	0	0	0	0	2	1	1.000000	78	452	0	95	2		0	0	0	0	97	2	-20.000000	1	1	121412	9	42	1	1	2	3	2.018485	0	0.270000	1.940000	0.270984	0.990000	0.870000	1.000000	1.000000	0.986591	0.990000	1	9.700000e-01	1
MFI2	4241	broad.mit.edu	37	3	196736601	196736601	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:196736601C>T	ENST00000296350.5	-	11	1526	c.1413G>A	c.(1411-1413)cgG>cgA	p.R471R		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5			20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)		AGCGCTTGCCCCGAAGCTCAT	0.642000																								0							SO:0001819	synonymous_variant			ENST00000296350.5	1	1	hg19	CCDS3325.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1	1	0	1	42	304	0	72	1	9.998600e-01	33	65	0	72	2		0	0	0	0	0	2	1	1.000000	42	299	0	71	2		0	0	0	0	72	2	-2.774755	1	1	0	0		1	1	2	3	2.018515	0	0.270000	1.940000	0.270984	0.890000	0.660000	1.000000	1.000000	0.889747	0.890000	1	7.700000e-01	1
SEC22C	9117	broad.mit.edu	37	3	42590112	42590112	+	Missense_Mutation	SNP	G	G	A	rs145549289	by1000genomes	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:42590112G>A	ENST00000273156.7	-	7	958	c.749C>T	c.(748-750)tCg>tTg	p.S250L	SEC22C_ENST00000536332.1_Missense_Mutation_p.S180L|SEC22C_ENST00000417572.1_Missense_Mutation_p.S250L|SEC22C_ENST00000423701.2_Missense_Mutation_p.S228L	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)			3					GCTGGCTCACGAGGTTTGGTC	0.547000																								0							SO:0001583	missense			ENST00000273156.7	1	1	hg19	CCDS2699.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.00	2.702337	0.48307	.	.	ENSG00000093183	ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332	T;T;T;T	0.24151	2.23;2.22;2.22;1.87	3.71	-4.25	0.03766	.	.	.	.	.	T	0.14098	0.0341	N	0.22421	0.69	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.27872	-1.0061	9	0.87932	D	0	.	5.8941	0.18929	0.5888:0.0:0.2683:0.143	.	180;228;250	F5H0H7;Q9BRL7-3;Q9BRL7-2	.;.;.	L	228;250;250;180	ENSP00000414576:S228L;ENSP00000273156:S250L;ENSP00000407564:S250L;ENSP00000439845:S180L	ENSP00000273156:S250L	S	-	2	0	SEC22C	42565116	0.017000	0.18338	0.000000	0.03702	0.029000	0.11900	0.171000	0.16685	-1.089000	0.03073	-0.182000	0.12963	TCG		TCGA-HZ-8315-01A-11D-2396-08	SEC22C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254733.1	0	0	1	28	206	0	49	1	9.999955e-01	20	128	0	49	2		0	0	0	0	0	2	1	1.000000	28	205	0	49	2		0	0	0	0	49	2	-2.841989	1	1	121412	33	44	1	1	2	3	2.018515	0	0.270000	1.940000	0.270984	0.880000	0.610000	1.000000	1.000000	0.874588	0.880000	1	7.400000e-01	1
CADPS	8618	broad.mit.edu	37	3	62535605	62535605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr3:62535605G>A	ENST00000383710.4	-	11	2288	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	CADPS_ENST00000283269.9_Nonsense_Mutation_p.Q647*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.Q647*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator			92		Lung SC(41;0.0452)			GCATCCAGCTGAGGTACATTT	0.478000																								0							SO:0001587	stop_gained			ENST00000383710.4	0	1	hg19	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	43	10.157087	0.99349	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.2011	0.89838	0.0:0.0:1.0:0.0	.	.	.	.	X	647;647;647;647;142	.	ENSP00000283269:Q647X	Q	-	1	0	CADPS	62510645	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.601000	0.98297	2.612000	0.88384	0.585000	0.79938	CAG		TCGA-HZ-8315-01A-11D-2396-08	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	1	0	1	57	416	0	89	0	4.391032e-01	0	12	0	89	2		0	0	0	0	0	2	1	1.000000	56	413	0	88	2		0	0	0	0	89	2	-3.075757	1	1	0	0		1	1	2	3	2.018515	0	0.270000	1.940000	0.270984	0.890000	0.680000	1.000000	1.000000	0.888487	0.890000	1	7.800000e-01	1
DCUN1D4	23142	broad.mit.edu	37	4	52779460	52779460	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr4:52779460C>G	ENST00000334635.5	+	10	905	c.725C>G	c.(724-726)tCa>tGa	p.S242*	DCUN1D4_ENST00000381437.4_Nonsense_Mutation_p.S182*|DCUN1D4_ENST00000381441.3_Nonsense_Mutation_p.S207*|DCUN1D4_ENST00000451288.2_Nonsense_Mutation_p.S286*	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4			9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)		CATCAGCAATCAAAATACAAA	0.333000																								0							SO:0001587	stop_gained			ENST00000334635.5	0	1	hg19	CCDS33982.1	.	.	.	.	.	.	.	.	.	.	C	39	7.793471	0.98492	.	.	ENSG00000109184	ENST00000334635;ENST00000381441;ENST00000381437;ENST00000451288;ENST00000510808	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-10.8354	19.5352	0.95251	0.0:1.0:0.0:0.0	.	.	.	.	X	242;207;182;286;52	.	ENSP00000334625:S242X	S	+	2	0	DCUN1D4	52474217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	TCA		TCGA-HZ-8315-01A-11D-2396-08	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250599.2	1	0	0	21	151	0	30	0	9.666357e-01	1	42	0	30	2		0	0	0	0	0	2	1	0.999998	19	151	0	30	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	1	2	3	2.034066	0	0.270000	1.940000	0.274894	0.920000	0.590000	1.000000	1.000000	0.888370	0.920000	1	7.400000e-01	1
FCHSD1	89848	broad.mit.edu	37	5	141028827	141028827	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr5:141028827G>A	ENST00000435817.2	-	6	474	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	FCHSD1_ENST00000519800.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R140W|FCHSD1_ENST00000522126.1_Missense_Mutation_p.R66W	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1		FCHSD1/BRAF(2)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCAGCTCCCGGACAGACTGC	0.602000																								0							SO:0001583	missense			ENST00000435817.2	1	1	hg19	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634995	0.67130	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.11	3.09	0.35607	.	0.154663	0.38436	N	0.001683	T	0.24314	0.0589	L	0.40543	1.245	0.32546	N	0.532998	D	0.76494	0.999	D	0.63793	0.918	T	0.24404	-1.0161	10	0.87932	D	0	-18.4959	11.9792	0.53111	0.0:0.0:0.5971:0.4029	.	142	Q86WN1	FCSD1_HUMAN	W	142;66;140;140	ENSP00000399259:R142W;ENSP00000427796:R66W;ENSP00000428677:R140W;ENSP00000428776:R140W	ENSP00000399259:R142W	R	-	1	2	FCHSD1	141009011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.385000	0.34408	1.129000	0.42072	0.561000	0.74099	CGG		TCGA-HZ-8315-01A-11D-2396-08	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	1	0	0	96	672	0	166	1	8.912457e-01	12	16	0	166	2		0	0	0	0	0	2	1	1.000000	94	666	0	162	2		0	0	0	0	166	2	-2.716734	1	1	121194	91	53	1	1	2	3	2.023144	0	0.270000	1.940000	0.271966	0.920000	0.760000	1.000000	1.000000	0.921257	0.920000	1	8.300000e-01	1
ABCB5	340273	broad.mit.edu	37	7	20668330	20668330	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:20668330T>C	ENST00000404938.2	+	4	780	c.128T>C	c.(127-129)cTg>cCg	p.L43P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					GCTGATGGACTGGACATCACA	0.463000																								0							SO:0001583	missense			ENST00000404938.2	0	1	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	T	8.232	0.804788	0.16467	.	.	ENSG00000004846	ENST00000404938	D	0.87256	-2.23	4.29	4.29	0.51040	.	.	.	.	.	T	0.73984	0.3657	N	0.08118	0	0.80722	D	1	B	0.24768	0.111	B	0.25884	0.064	T	0.70978	-0.4725	9	0.39692	T	0.17	.	10.4067	0.44260	0.0:0.0:0.0:1.0	.	43	A7BKA4	.	P	43	ENSP00000384881:L43P	ENSP00000384881:L43P	L	+	2	0	ABCB5	20634855	1.000000	0.71417	0.931000	0.37212	0.198000	0.23893	3.709000	0.54853	1.892000	0.54788	0.377000	0.23210	CTG		TCGA-HZ-8315-01A-11D-2396-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	18	121	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	0.999988	18	121	0	17	2		0	0	0	0	17	2	-20.000000	1	1	0	0		1	0	1	1	2.013477	0	0.270000	1.940000	0.268024	0.950000	0.600000	1.000000	1.000000	0.904486	0.950000	1	7.600000e-01	1
STK31	56164	broad.mit.edu	37	7	23826539	23826539	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr7:23826539C>T	ENST00000355870.3	+	20	2602	c.2483C>T	c.(2482-2484)tCa>tTa	p.S828L	STK31_ENST00000354639.3_Missense_Mutation_p.S805L|STK31_ENST00000428484.1_Missense_Mutation_p.S805L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.S828L	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31			67					CCTTTAAATTCAGAAGTAAGT	0.353000																								0							SO:0001583	missense			ENST00000355870.3	1	1	hg19	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	2.271	-0.366888	0.05069	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.72051	-0.62;2.32;-0.62;-0.62	5.45	3.65	0.41850	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.330943	0.28659	N	0.014566	T	0.46171	0.1379	N	0.05574	-0.02	0.34125	D	0.664527	B;B	0.18461	0.012;0.028	B;B	0.19946	0.016;0.027	T	0.45948	-0.9226	10	0.10111	T	0.7	-0.3709	10.3969	0.44207	0.0:0.7807:0.0:0.2193	.	828;828	B4DZ06;Q9BXU1	.;STK31_HUMAN	L	828;828;805;805	ENSP00000348132:S828L;ENSP00000411852:S828L;ENSP00000346660:S805L;ENSP00000406146:S805L	ENSP00000346660:S805L	S	+	2	0	STK31	23793064	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	1.847000	0.39299	0.684000	0.31448	-0.225000	0.12378	TCA		TCGA-HZ-8315-01A-11D-2396-08	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	1	0	1	64	458	0	96	0	7.844409e-02	1	3	0	96	2		0	0	0	0	0	2	1	1.000000	63	457	0	95	2		0	0	0	0	96	2	-19.999820	1	1	0	0		1	0	1	1	2.013477	0	0.270000	1.940000	0.268024	0.900000	0.700000	1.000000	1.000000	0.898842	0.900000	1	8.000000e-01	1
SOX17	64321	broad.mit.edu	37	8	55372342	55372342	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr8:55372342C>T	ENST00000297316.4	+	2	1236	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17			18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		CCTGCCGGGACGGCACGGACC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000297316.4	0	1	hg19	CCDS6159.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2	1	0	0	12	62	0	15	0	2.758901e-01	0	6	0	15	2		0	0	0	0	0	2	1	0.999389	12	62	0	15	2		0	0	0	0	15	2	-19.990370	1	1	0	0		1	1	2	3	2.023674	0	0.270000	1.940000	0.271966	0.990000	0.680000	1.000000	1.000000	0.964044	0.990000	1	9.100000e-01	1
ZNF483	158399	broad.mit.edu	37	9	114304519	114304519	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:114304519G>C	ENST00000309235.5	+	6	1462	c.1304G>C	c.(1303-1305)gGa>gCa	p.G435A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483			31					AATGAGAGTGGAGAAAAAACT	0.398000																								0							SO:0001583	missense			ENST00000309235.5	1	1	hg19	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638780	0.47153	.	.	ENSG00000173258	ENST00000309235	T	0.64618	-0.11	4.34	0.334	0.15948	.	0.376195	0.19591	N	0.110638	T	0.53546	0.1803	M	0.67625	2.065	0.80722	D	1	B	0.19331	0.035	B	0.18561	0.022	T	0.49093	-0.8975	10	0.66056	D	0.02	-8.169	5.1547	0.15029	0.2783:0.1531:0.5686:0.0	.	435	Q8TF39	ZN483_HUMAN	A	435	ENSP00000311679:G435A	ENSP00000311679:G435A	G	+	2	0	ZNF483	113344340	0.988000	0.35896	0.063000	0.19743	0.538000	0.34931	1.257000	0.32932	0.066000	0.16515	0.650000	0.86243	GGA		TCGA-HZ-8315-01A-11D-2396-08	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	1	0	1	62	392	0	62		0	0	0	0	62	2		0	0	0	0	0	2	1	1.000000	62	390	0	62	2		0	0	0	0	62	2	-2.966719	1	1	0	0		1	0	1	1	2.014283	0	0.270000	1.940000	0.269013	0.990000	0.780000	1.000000	1.000000	0.960360	0.990000	1	8.900000e-01	1
DDX31	64794	broad.mit.edu	37	9	135505739	135505739	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:135505739C>A	ENST00000372159.3	-	16	2009	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	DDX31_ENST00000438527.3_Missense_Mutation_p.A491S|DDX31_ENST00000372153.1_Silent_p.P611P	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31			27					CCAATCCGGGCGGTTCTTCCA	0.478000																								0							SO:0001583	missense			ENST00000372159.3	1	1	hg19	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576160	0.86645	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000438527	T;T	0.77358	-1.09;-1.09	5.54	5.54	0.83059	Helicase, C-terminal (3);	0.045953	0.85682	D	0.000000	D	0.90280	0.6960	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.87932	D	0	-21.3098	18.551	0.91065	0.0:1.0:0.0:0.0	.	620	Q9H8H2	DDX31_HUMAN	S	620;620;491	ENSP00000361232:A620S;ENSP00000387730:A491S	ENSP00000361228:A620S	A	-	1	0	DDX31	134495560	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	6.339000	0.72969	2.619000	0.88677	0.650000	0.86243	GCC		TCGA-HZ-8315-01A-11D-2396-08	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	1	0	1	82	675	0	116	1	5.971098e-01	5	13	0	116	2		0	0	0	0	0	2	1	1.000000	82	668	0	116	2		0	0	0	0	116	2	-3.318794	1	1	0	0		1	0	1	1	2.014283	0	0.270000	1.940000	0.269013	0.790000	0.640000	0.960000	0.800000	0.805574	0.790000	0	7.100000e-01	8.900000e-01
MAN1B1	11253	broad.mit.edu	37	9	139994279	139994279	+	Missense_Mutation	SNP	G	G	A	rs138090529	byFrequency	TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:139994279G>A	ENST00000371589.4	+	6	935	c.862G>A	c.(862-864)Ggt>Agt	p.G288S	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1			14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)		GTTTGGCCTCGGTCTCACACT	0.582000																								0							SO:0001583	missense			ENST00000371589.4	1	1	hg19	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.834053|3.834053	0.71373|0.71373	0.001589|0.001589	0.0|0.0	ENSG00000177239|ENSG00000177239	ENST00000371589|ENST00000535144	T|.	0.73469|.	-0.75|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.73321|0.73321	0.3572|0.3572	M|M	0.69248|0.69248	2.105|2.105	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.997;0.997;0.999|.	T|T	0.73603|0.73603	-0.3930|-0.3930	9|5	.|.	.|.	.|.	-24.0316|-24.0316	16.7961|16.7961	0.85602|0.85602	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	189;252;288;189|.	B4DPS9;B4DR05;Q9UKM7;Q68D80|.	.;.;MA1B1_HUMAN;.|.	S|Q	288|261	ENSP00000360645:G288S|.	.|.	G|R	+|+	1|2	0|0	MAN1B1|MAN1B1	139114100|139114100	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.045000|0.045000	0.14185|0.14185	9.492000|9.492000	0.97957|0.97957	2.221000|2.221000	0.72209|0.72209	0.561000|0.561000	0.74099|0.74099	GGT|CGG		TCGA-HZ-8315-01A-11D-2396-08	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	1	0	1	68	367	0	102	1	9.999997e-01	27	92	0	102	2		0	0	0	0	0	2	1	1.000000	68	364	0	101	2		0	0	0	0	102	2	-2.478464	0	1	121412	14	45	1	0	1	1	2.014283	0	0.270000	1.940000	0.269013	0.990000	0.910000	1.000000	1.000000	0.994466	0.990000	1	9.900000e-01	1
EXD3	54932	broad.mit.edu	37	9	140218269	140218269	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140218269C>T	ENST00000340951.4	-	19	2287	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	EXD3_ENST00000342129.4_Missense_Mutation_p.D349N	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3			12					AGGGAGCAGTCGACCGAGAGG	0.672000																								0							SO:0001583	missense			ENST00000340951.4	1	1	hg19	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	3.497	-0.102696	0.06967	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.63417	-0.04;0.62	3.9	1.53	0.23141	.	0.123662	0.53938	D	0.000054	T	0.35307	0.0927	N	0.13235	0.315	0.24060	N	0.996012	P;P	0.46064	0.872;0.87	B;B	0.40134	0.274;0.32	T	0.27191	-1.0081	10	0.14252	T	0.57	.	5.8079	0.18450	0.0:0.6142:0.0:0.3858	.	349;698	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	N	349;698	ENSP00000343705:D349N;ENSP00000340474:D698N	ENSP00000340474:D698N	D	-	1	0	EXD3	139338090	0.153000	0.22777	0.245000	0.24217	0.031000	0.12232	0.399000	0.20916	0.567000	0.29293	0.305000	0.20034	GAC		TCGA-HZ-8315-01A-11D-2396-08	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	1	0	1	21	143	0	37	1	8.826903e-01	3	25	0	37	2		0	0	0	0	0	2	1	0.999998	21	139	0	37	2		0	0	0	0	37	2	-20.000000	1	1	120438	2	31	1	0	1	1	2.014283	0	0.270000	1.940000	0.269013	0.940000	0.610000	1.000000	1.000000	0.904131	0.940000	1	7.600000e-01	1
CACNA1B	774	broad.mit.edu	37	9	140952517	140952517	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:140952517G>A	ENST00000371372.1	+	28	4268	c.4123G>A	c.(4123-4125)Gtg>Atg	p.V1375M	CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1375M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.V571M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1376M|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1375M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1376M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAACACTCCGTGGATGCCAC	0.557000																								0							SO:0001583	missense			ENST00000371372.1	1	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939034	0.73557	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.33	5.33	0.75918	.	0.120881	0.56097	D	0.000031	D	0.96571	0.8881	N	0.01809	-0.71	0.80722	D	1	B;D;D	0.89917	0.219;1.0;1.0	B;D;D	0.80764	0.052;0.994;0.994	D	0.97604	1.0125	10	0.38643	T	0.18	.	19.4443	0.94840	0.0:0.0:1.0:0.0	.	1375;1376;1375	B1AQK4;B1AQK7;B1AQK6	.;.;.	M	1375;1375;571;1375;1376;1376	ENSP00000360423:V1375M;ENSP00000277551:V1375M;ENSP00000277549:V571M;ENSP00000360414:V1375M;ENSP00000360408:V1376M;ENSP00000360406:V1376M	ENSP00000277549:V571M	V	+	1	0	CACNA1B	140072338	1.000000	0.71417	0.938000	0.37757	0.920000	0.55202	9.725000	0.98778	2.682000	0.91365	0.555000	0.69702	GTG		TCGA-HZ-8315-01A-11D-2396-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	36	262	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1.000000	36	260	0	47	2		0	0	0	0	47	2	-15.479160	1	1	120952	4	37	1	0	1	1	2.014283	0	0.270000	1.940000	0.269013	0.890000	0.640000	1.000000	1.000000	0.882651	0.890000	1	7.600000e-01	1
MELK	9833	broad.mit.edu	37	9	36651774	36651774	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chr9:36651774T>G	ENST00000298048.2	+	12	1137	c.953T>G	c.(952-954)cTt>cGt	p.L318R	MELK_ENST00000541717.1_Missense_Mutation_p.L318R|MELK_ENST00000543751.1_Missense_Mutation_p.L286R|MELK_ENST00000536329.1_Missense_Mutation_p.L247R|MELK_ENST00000545008.1_Missense_Mutation_p.L247R|MELK_ENST00000538311.1_Missense_Mutation_p.L124R|MELK_ENST00000536987.1_Missense_Mutation_p.L187R|MELK_ENST00000536860.1_Missense_Mutation_p.L270R	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase			29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)		GCTACCTATCTTCTGCTTCTA	0.418000													Ovarian(82;980 1317 7225 14391 18624)											0							SO:0001583	missense			ENST00000298048.2	0	1	hg19	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723067	0.68959	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.73575	-0.56;0.41;0.19;0.72;0.1;-0.76;-0.46;-0.57	5.63	4.45	0.53987	.	0.056841	0.64402	D	0.000001	T	0.80581	0.4650	L	0.57536	1.79	0.58432	D	0.999995	D;D;P;P;D;P;P	0.62365	0.983;0.982;0.746;0.548;0.991;0.923;0.761	D;D;P;B;P;P;B	0.65684	0.937;0.914;0.508;0.328;0.86;0.771;0.21	T	0.81158	-0.1060	10	0.59425	D	0.04	-12.4522	9.0796	0.36542	0.162:0.0:0.0:0.838	.	238;247;270;318;247;286;318	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	R	318;124;187;247;270;247;318;286	ENSP00000298048:L318R;ENSP00000438226:L124R;ENSP00000439184:L187R;ENSP00000445452:L247R;ENSP00000439792:L270R;ENSP00000443550:L247R;ENSP00000437804:L318R;ENSP00000441596:L286R	ENSP00000298048:L318R	L	+	2	0	MELK	36641774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.724000	0.47285	2.145000	0.66743	0.533000	0.62120	CTT		TCGA-HZ-8315-01A-11D-2396-08	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	0	0	0	28	1423	0	242	0	1.649973e-02	0	10	0	242	2		0	0	0	0	0	2	1	1.000000	27	1410	0	240	2		0	0	0	0	242	2	-2.969780	1	1	0	0		1	1	2	3	2.024828	0	0.270000	1.940000	0.271966	0.140000	0.090000	0.210000	0.140000	0.156312	0.140000	0	1.100000e-01	1.800000e-01
ARHGAP6	395	broad.mit.edu	37	X	11157013	11157013	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:11157013G>A	ENST00000337414.4	-	13	3767	c.2895C>T	c.(2893-2895)aaC>aaT	p.N965N	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Silent_p.N762N|ARHGAP6_ENST00000380736.1_Silent_p.N762N	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6			38					GGGCATCGGGGTTGTCGGTCG	0.741000																								0							SO:0001819	synonymous_variant			ENST00000337414.4	0	1	hg19	CCDS14140.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	1	0	0	6	56	0	10	0	3.565390e-02	0	3	0	10	2		0	0	0	0	0	2	1	0.964019	6	55	0	10	2		0	0	0	0	10	2	-14.399860	1	1	0	0		1	0	1	1			0.270000	1.940000	0.270000	0.730000	0.320000	1.000000	1.000000	0.738314	0.730000	0	5.000000e-01	1
DCAF12L2	340578	broad.mit.edu	37	X	125298663	125298663	+	Silent	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:125298663G>A	ENST00000360028.2	-	1	1271	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	DCAF12L2_ENST00000538699.1_Silent_p.D415D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2			64					TCACCCAGACGTCATCTTGGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000360028.2	1	1	hg19	CCDS43991.1																																																																																				TCGA-HZ-8315-01A-11D-2396-08	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	1	0	0	120	778	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	119	765	0	99	2		0	0	0	0	101	2	-20.000000	1	1	121408	2	34	1	0	1	1			0.270000	1.940000	0.270000	0.980000	0.820000	1.000000	1.000000	0.962663	0.980000	1	9.000000e-01	1
MTM1	4534	broad.mit.edu	37	X	149839952	149839952	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:149839952G>A	ENST00000370396.2	+	15	1750	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E451K|MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	p.E566K(1)		26	Acute lymphoblastic leukemia(192;6.56e-05)				CTTACGCGACGAATACATAAA	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370396.2	1	1	hg19	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781327	0.31502	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.96011	-3.88;-3.65;-3.85	4.85	4.85	0.62838	.	0.256266	0.40554	N	0.001065	D	0.91690	0.7373	L	0.28400	0.85	0.34666	D	0.723206	B;B	0.31435	0.323;0.323	B;B	0.25884	0.064;0.064	D	0.94029	0.7299	10	0.72032	D	0.01	.	17.4112	0.87486	0.0:0.0:1.0:0.0	.	529;566	B7Z491;Q13496	.;MTM1_HUMAN	K	566;451;529	ENSP00000359423:E566K;ENSP00000439784:E451K;ENSP00000389157:E529K	ENSP00000359423:E566K	E	+	1	0	MTM1	149590610	1.000000	0.71417	0.022000	0.16811	0.059000	0.15707	5.349000	0.66010	2.123000	0.65237	0.600000	0.82982	GAA		TCGA-HZ-8315-01A-11D-2396-08	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	1	0	1	40	292	0	65	0	8.874977e-01	0	30	0	65	2		0	0	0	0	0	2	1	1.000000	40	289	0	62	2		0	0	0	0	65	2	-20.000000	1	1	0	0		1	0	1	1			0.270000	1.940000	0.270000	0.880000	0.650000	1.000000	1.000000	0.883291	0.880000	1	7.600000e-01	1
RBBP7	5931	broad.mit.edu	37	X	16876907	16876907	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:16876907C>T	ENST00000380087.2	-	4	733	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RBBP7_ENST00000404022.1_Missense_Mutation_p.E116K|RBBP7_ENST00000380084.4_Missense_Mutation_p.E169K			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7			25	Hepatocellular(33;0.0997)				CGGTTTACTTCTCCTTCGTGA	0.393000																								0							SO:0001583	missense			ENST00000380087.2	1	1	hg19	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395799	0.96009	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000416035	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.01	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	H	0.96720	3.87	0.80722	D	1	P;D;D	0.76494	0.932;0.999;0.976	P;D;P	0.68765	0.631;0.96;0.494	D	0.90904	0.4771	10	0.87932	D	0	-0.0253	16.9044	0.86122	0.0:1.0:0.0:0.0	.	116;125;169	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	K	125;169;116;45	ENSP00000369427:E125K;ENSP00000369424:E169K;ENSP00000386068:E116K;ENSP00000392714:E45K	ENSP00000369424:E169K	E	-	1	0	RBBP7	16786828	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.772000	0.85439	2.286000	0.76751	0.594000	0.82650	GAA		TCGA-HZ-8315-01A-11D-2396-08	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	1	0	1	68	494	0	79	1	1	221	206	0	79	2		0	0	0	0	0	2	1	1.000000	66	491	0	79	2		0	0	0	0	79	2	-20.000000	1	1	0	0		1	0	1	1			0.270000	1.940000	0.270000	0.890000	0.700000	1.000000	1.000000	0.892026	0.890000	1	7.900000e-01	1
NLGN3	54413	broad.mit.edu	37	X	70367846	70367846	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:70367846C>T	ENST00000358741.3	+	2	550	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	NLGN3_ENST00000536169.1_Missense_Mutation_p.R83C|NLGN3_ENST00000374051.3_Missense_Mutation_p.R83C	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3			37	Renal(35;0.156)				CGGCGAGAAACGTTTCCTGCC	0.642000													Esophageal Squamous(103;760 1488 16849 22250 40351)											0							SO:0001583	missense			ENST00000358741.3	1	1	hg19	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395069	0.62066	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	H	0.99425	4.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96501	0.9371	10	0.87932	D	0	.	13.1622	0.59550	0.1595:0.8405:0.0:0.0	.	83;83;83	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	C	83	ENSP00000445298:R83C;ENSP00000363163:R83C;ENSP00000379196:R83C;ENSP00000351591:R83C	ENSP00000351591:R83C	R	+	1	0	NLGN3	70284571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.908000	0.48750	2.044000	0.60594	0.436000	0.28706	CGT		TCGA-HZ-8315-01A-11D-2396-08	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	1	0	1	26	157	0	37	0	2.173538e-02	0	2	0	37	2		0	0	0	0	0	2	1	1.000000	26	151	0	35	2		0	0	0	0	37	2	-20.000000	1	1	0	0		1	0	1	1			0.270000	1.940000	0.270000	0.990000	0.710000	1.000000	1.000000	0.954204	0.990000	1	8.700000e-01	1
ABCB7	22	broad.mit.edu	37	X	74282184	74282184	+	Silent	SNP	C	C	T			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:74282184C>T	ENST00000373394.3	-	14	1921	c.1914G>A	c.(1912-1914)tcG>tcA	p.S638S	ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000339447.4_Silent_p.S598S|ABCB7_ENST00000253577.3_Silent_p.S639S			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7			20					TCGAATCTAACGATGAAGTAG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000373394.3	1	1	hg19																																																																																					TCGA-HZ-8315-01A-11D-2396-08	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	1	0	1	41	258	0	42	0	9.993014e-01	0	72	0	42	2		0	0	0	0	0	2	1	1.000000	40	256	0	42	2		0	0	0	0	42	2	-18.697620	1	1	121386	1	38	1	0	1	1			0.270000	1.940000	0.270000	0.990000	0.740000	1.000000	1.000000	0.953382	0.990000	1	8.700000e-01	1
CYLC1	1538	broad.mit.edu	37	X	83128929	83128929	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8315-01A-11D-2396-08	TCGA-HZ-8315-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fde75dc0-9d77-41e0-b20e-df1f53944288	0f6b2835-2fa6-48d2-9d05-1a6db3f410af	g.chrX:83128929T>G	ENST00000329312.4	+	4	1250	c.1213T>G	c.(1213-1215)Ttc>Gtc	p.F405V		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1			58					GAAAATTACATTCTCTACTGA	0.318000																								0							SO:0001583	missense			ENST00000329312.4	0	1	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	t	0.010	-1.788629	0.00623	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.17370	2.28	3.29	-0.897	0.10553	.	.	.	.	.	T	0.03959	0.0111	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37934	-0.9684	9	0.02654	T	1	29.047	2.6173	0.04907	0.2556:0.0:0.3484:0.396	.	405;405	P35663;F5H4V5	CYLC1_HUMAN;.	V	405	ENSP00000331556:F405V	ENSP00000331556:F405V	F	+	1	0	CYLC1	83015585	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.233000	0.09041	-0.546000	0.06216	-0.175000	0.13238	TTC		TCGA-HZ-8315-01A-11D-2396-08	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	1	0	1	18	123	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	0.999987	18	122	0	13	2		0	0	0	0	14	2	-3.024453	1	1	0	0		1	0	1	1			0.270000	1.940000	0.270000	0.940000	0.590000	1.000000	1.000000	0.899132	0.940000	1	7.500000e-01	1
