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
PPP2R5C	5527	broad.mit.edu	37	14	102349889	102349890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			-	T	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:102349889_102349890insT	ENST00000334743.5	+	5	667_668	c.619_620insT	c.(619-621)atafs	p.I207fs	PPP2R5C_ENST00000328724.5_Frame_Shift_Ins_p.I262fs|PPP2R5C_ENST00000557095.1_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000445439.3_Frame_Shift_Ins_p.I207fs|PPP2R5C_ENST00000422945.2_Frame_Shift_Ins_p.I238fs|PPP2R5C_ENST00000350249.3_Frame_Shift_Ins_p.I207fs	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma			20					GATAAATAATATATTTTATAGG	0.450000																								0							SO:0001589	frameshift_variant			ENST00000334743.5	0	1	hg19	CCDS9964.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	1	0	0	138	682	0	89	0	9.997236e-01	0	60	0	89	2	0	0	0	0	0	0		1	1.000000	140	663	0	89	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	2.048850	0	0.500000	1.910000	0.500000	0.660000	0.560000	0.770000	0.680000	0.675569	0.660000	0	6.100000e-01	7.300000e-01
SLC22A5	6584	broad.mit.edu	37	5	131724619	131724621	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr5:131724619_131724621delGAC	ENST00000245407.3	+	6	1179_1181	c.958_960delGAC	c.(958-960)gacdel	p.D320del	SLC22A5_ENST00000435065.2_In_Frame_Del_p.D344del|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5			8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	GCAGTTACAAGACCTAAGTTCCA	0.448000											OREG0003454	type=REGULATORY REGION|Gene=SLC22A5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay												0							SO:0001651	inframe_deletion			ENST00000245407.3	0	1	hg19	CCDS4154.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	1	0	0	26	266	0	39	1	4.964207e-01	4	14	0	39	2	0	0	0	0	0	0		1	1.000000	29	264	0	39	2	0	0	0	0	0	0		-20.000000	1	0	0	0		1	1	2	3	2.070271	0	0.500000	1.910000	0.502488	0.360000	0.240000	0.530000	0.360000	0.374127	0.360000	0	2.900000e-01	4.400000e-01
DMBT1	1755	broad.mit.edu	37	10	124389416	124389416	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:124389416C>A	ENST00000338354.3	+	44	5448	c.5342C>A	c.(5341-5343)tCc>tAc	p.S1781Y	DMBT1_ENST00000368909.3_Missense_Mutation_p.S1781Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.S501Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1153Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1771Y|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1153Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			TCCAGCCCATCCTACCCTGCA	0.458000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001583	missense			ENST00000338354.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.047	-1.262327	0.01445	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	4.42	-2.46	0.06461	CUB (5);	.	.	.	.	T	0.31295	0.0792	N	0.17800	0.525	0.09310	N	1	B;D;B;D;D;D;D	0.76494	0.046;0.999;0.007;0.998;0.994;0.996;0.991	B;D;B;D;D;D;D	0.83275	0.014;0.996;0.005;0.947;0.969;0.989;0.949	T	0.20174	-1.0283	9	0.35671	T	0.21	.	5.0923	0.14715	0.158:0.2727:0.0:0.5692	.	501;1761;1030;1910;1153;1771;1781	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	Y	1781;1910;1781;1781;1781;1781;1153;1771;1153;1153;1781;1771;1153;501	ENSP00000342210:S1781Y;ENSP00000343175:S1771Y;ENSP00000327747:S1153Y;ENSP00000357905:S1781Y;ENSP00000357951:S1771Y;ENSP00000357952:S1153Y;ENSP00000352593:S501Y	ENSP00000331522:S1153Y	S	+	2	0	DMBT1	124379406	0.000000	0.05858	0.873000	0.34254	0.769000	0.43574	-2.969000	0.00668	-0.668000	0.05296	-0.793000	0.03317	TCC		TCGA-PZ-A5RE-01A-11D-A32N-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1	208	579	0	102	1	1	133	168	0	102	2		0	0	0	0	0	2	1	1.000000	208	574	0	102	2		0	0	0	0	102	2	-20.000000	1	1	0	0		1	1	2	3	2.062320	0	0.500000	1.910000	0.501247	0.990000	0.930000	1.000000	1.000000	0.994515	0.990000	1	9.900000e-01	1
FRMPD2	143162	broad.mit.edu	37	10	49392828	49392828	+	Missense_Mutation	SNP	G	G	A	rs34002506	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr10:49392828G>A	ENST00000374201.3	-	19	2758	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FRMPD2_ENST00000407470.4_Missense_Mutation_p.T787M|FRMPD2_ENST00000305531.3_Missense_Mutation_p.T794M	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2			66					TGGTTTGATCGTTTTTGCTTT	0.348000																								0							SO:0001583	missense			ENST00000374201.3	1	1	hg19	CCDS31195.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	G	0.927	-0.714061	0.03206	0.001589	1.16E-4	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.39406	1.08;1.08;1.08	5.1	-4.42	0.03579	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.18425	0.0442	L	0.42245	1.32	0.09310	N	1	B;B;B	0.22604	0.072;0.014;0.072	B;B;B	0.13407	0.009;0.008;0.009	T	0.20638	-1.0269	9	0.33141	T	0.24	.	1.4061	0.02281	0.2083:0.1364:0.3532:0.3022	rs34002506	794;819;787	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	M	819;794;787	ENSP00000363317:T819M;ENSP00000307079:T794M;ENSP00000384339:T787M	ENSP00000307079:T794M	T	-	2	0	FRMPD2	49062834	0.826000	0.29277	0.022000	0.16811	0.008000	0.06430	0.117000	0.15583	-0.877000	0.04012	-3.274000	0.00048	ACG		TCGA-PZ-A5RE-01A-11D-A32N-08	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	1	0	1	35	116	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1.000000	35	115	0	24	2		0	0	0	0	24	2	-3.213634	1	1	121410	23	44	1						0.500000	1.910000									0	0
BTBD11	121551	broad.mit.edu	37	12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:108045467A>C	ENST00000280758.5	+	16	3536	c.3008A>C	c.(3007-3009)aAg>aCg	p.K1003T	BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|Y_RNA_ENST00000410228.1_RNA|BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11			53					TCTGCTGCTAAGTTTTTCCAG	0.438000																								0							SO:0001583	missense			ENST00000280758.5	1	1	hg19	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883579	0.72410	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.41573	1.285	0.58432	D	0.999999	D;D	0.64830	0.991;0.994	D;D	0.76575	0.988;0.946	T	0.04781	-1.0927	10	0.38643	T	0.18	.	15.235	0.73422	1.0:0.0:0.0:0.0	.	540;1003	E9PHS4;A6QL63	.;BTBDB_HUMAN	T	1003;884;540;82	ENSP00000280758:K1003T;ENSP00000413889:K884T;ENSP00000349690:K540T;ENSP00000448322:K82T	ENSP00000280758:K1003T	K	+	2	0	BTBD11	106569597	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	8.757000	0.91657	2.050000	0.60909	0.533000	0.62120	AAG		TCGA-PZ-A5RE-01A-11D-A32N-08	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	115	92	0	29	0	7.631145e-01	1	3	0	29	2		0	0	0	0	0	2	1	1.000000	115	90	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	0	1	1	2.000950	1	0.500000	1.910000	0.333333	0.980000	0.940000	1.000000	0.990000	0.989776	0.980000	1	9.700000e-01	1
KRAS	3845	broad.mit.edu	37	12	25380272	25380272	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380272C>T	ENST00000256078.4	-	3	249	c.186G>A	c.(184-186)gaG>gaA	p.E62E	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Silent_p.E62E	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.E62D(1)|p.E62_S65>D(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)		CACTGTACTCCTCTTGACCTG	0.423000		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	2	Substitution - Missense(1)|Complex - deletion inframe(1)						SO:0001819	synonymous_variant	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	119	160	0	36	1	9.999986e-01	28	4	0	36	2	1	1	184	307	0	960	2	1	1.000000	118	159	0	35	2	1	1	1045	3937	0	36	2	-19.831790	1	0	0	0		1	0	2	2	2.036976	1	0.500000	1.910000	0.500000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.Q61H(153)	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)		TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_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	153	Substitution - Missense(153)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		TCGA-PZ-A5RE-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	109	153	0	36	1	9.999872e-01	25	3	0	36	2	1	1	176	304	0	951	2	1	1.000000	108	152	0	35	2	1	1	4119	3912	0	36	2	-20.000000	1	1	0	0		1	0	2	2	2.036976	1	0.500000	1.910000	0.500000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MYH7	4625	broad.mit.edu	37	14	23886078	23886078	+	Splice_Site	SNP	T	T	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr14:23886078T>A	ENST00000355349.3	-	33	4805	c.4643A>T	c.(4642-4644)gAg>gTg	p.E1548V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta			137	all_cancers(95;2.54e-05)				CACACACACCTCGGCCTCCTC	0.592000																								0							SO:0001630	splice_region_variant			ENST00000355349.3	0	1	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.971197	0.74246	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.90676	-2.71	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.97018	0.9026	H	0.97983	4.12	0.80722	D	1	D	0.63880	0.993	D	0.69654	0.965	D	0.98472	1.0601	9	0.87932	D	0	.	14.8662	0.70419	0.0:0.0:0.0:1.0	.	1548	P12883	MYH7_HUMAN	V	1548;1553	ENSP00000347507:E1548V	ENSP00000347507:E1548V	E	-	2	0	MYH7	22955918	1.000000	0.71417	0.997000	0.53966	0.386000	0.30323	7.517000	0.81783	2.091000	0.63221	0.533000	0.62120	GAG		TCGA-PZ-A5RE-01A-11D-A32N-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	0	0	0	8	416	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.988887	8	410	0	52	2		0	0	0	0	52	2	-7.548153	1	1	0	0		1	0	0	0	2.048850	0	0.500000	1.910000	0.500000	0.070000	0.020000	0.140000	0.080000	0.084290	0.070000	0	5.000000e-02	1.100000e-01
SLC9A5	6553	broad.mit.edu	37	16	67298340	67298340	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr16:67298340G>A	ENST00000299798.11	+	13	1993	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	p.R643Q(1)		27		Ovarian(137;0.0563)			AACATGAAGCGGCGGCTGGAG	0.577000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000299798.11	1	1	hg19	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765611	0.49574	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.57752	0.38	5.33	4.37	0.52481	.	0.202625	0.42172	N	0.000749	T	0.49372	0.1553	L	0.55990	1.75	0.31443	N	0.671663	B;D	0.53462	0.196;0.96	B;B	0.42771	0.031;0.397	T	0.60652	-0.7221	10	0.44086	T	0.13	.	13.6817	0.62489	0.0752:0.0:0.9248:0.0	.	156;643	F8WDV9;Q14940	.;SL9A5_HUMAN	Q	643;156	ENSP00000299798:R643Q	ENSP00000299798:R643Q	R	+	2	0	SLC9A5	65855841	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.156000	0.58138	1.385000	0.46445	0.561000	0.74099	CGG		TCGA-PZ-A5RE-01A-11D-A32N-08	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1	1	0	1	68	196	0	48	0	3.868547e-01	1	4	0	48	2		0	0	0	0	0	2	1	1.000000	66	175	0	48	2		0	0	0	0	48	2	-20.000000	1	1	121144	6	37	1	0	0	0	2.046525	0	0.500000	1.910000	0.500000	0.990000	0.820000	1.000000	1.000000	0.972286	0.990000	1	9.200000e-01	1
DNAI2	64446	broad.mit.edu	37	17	72277972	72277972	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:72277972G>A	ENST00000311014.6	+	2	83	c.16G>A	c.(16-18)Gtg>Atg	p.V6M	DNAI2_ENST00000579490.1_Missense_Mutation_p.V63M|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.V6M|DNAI2_ENST00000582036.1_Missense_Mutation_p.V6M			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2			39					GATTGTGTACGTGTACGTCAA	0.632000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000311014.6	1	1	hg19	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903787	0.72754	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.68181	-0.31;-0.31	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.78916	2.43	0.80722	D	1	D	0.67145	0.996	P	0.52514	0.701	T	0.78740	-0.2086	10	0.46703	T	0.11	-48.1228	19.0564	0.93067	0.0:0.0:1.0:0.0	.	6	Q9GZS0	DNAI2_HUMAN	M	6	ENSP00000308312:V6M;ENSP00000400252:V6M	ENSP00000308312:V6M	V	+	1	0	DNAI2	69789567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.624000	0.61254	2.735000	0.93741	0.650000	0.86243	GTG		TCGA-PZ-A5RE-01A-11D-A32N-08	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	1	0	1	99	288	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	98	286	0	69	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	1	2	3	2.071479	0	0.500000	1.910000	0.502488	0.990000	0.850000	1.000000	1.000000	0.978191	0.990000	1	9.300000e-01	1
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr17:7578268A>T	ENST00000269305.4	-	6	770	c.581T>A	c.(580-582)cTt>cAt	p.L194H	TP53_ENST00000445888.2_Missense_Mutation_p.L194H|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194H|TP53_ENST00000420246.2_Missense_Mutation_p.L194H|TP53_ENST00000359597.4_Missense_Mutation_p.L194H|TP53_ENST00000413465.2_Missense_Mutation_p.L194H	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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CACTCGGATAAGATGCTGAGG	0.552000		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	108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(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	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086635	0.55861	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194H;ENSP00000352610:L194H;ENSP00000269305:L194H;ENSP00000398846:L194H;ENSP00000391127:L194H;ENSP00000391478:L194H;ENSP00000425104:L62H;ENSP00000423862:L101H	ENSP00000269305:L194H	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		TCGA-PZ-A5RE-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	50	140	0	32	1	9.999966e-01	37	21	0	32	2	1	1	178	398	1	1283	5	1	1.000000	50	141	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	1.562467	1	0.500000	1.910000	0.333333	0.770000	0.600000	0.950000	0.780000	0.784688	0.770000	0	6.800000e-01	8.700000e-01
DSC3	1825	broad.mit.edu	37	18	28581623	28581623	+	Missense_Mutation	SNP	T	T	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr18:28581623T>A	ENST00000360428.4	-	14	2276	c.2196A>T	c.(2194-2196)ttA>ttT	p.L732F	DSC3_ENST00000434452.1_Missense_Mutation_p.L732F	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3			56			OV - Ovarian serous cystadenocarcinoma(10;0.125)		TTGATATAATTAAGTTTTGCT	0.299000																								0							SO:0001583	missense			ENST00000360428.4	1	0	hg19	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151180	0.38021	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.62639	0.15;0.01	4.48	4.48	0.54585	.	0.000000	0.27302	N	0.019987	T	0.80959	0.4724	M	0.86420	2.815	0.53688	D	0.999975	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	D	0.84776	0.0770	10	0.87932	D	0	.	13.8919	0.63744	0.0:0.0:0.0:1.0	.	732;732	Q14574;Q14574-2	DSC3_HUMAN;.	F	732	ENSP00000353608:L732F;ENSP00000392068:L732F	ENSP00000353608:L732F	L	-	3	2	DSC3	26835621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.554000	0.45845	2.007000	0.58848	0.455000	0.32223	TTA		TCGA-PZ-A5RE-01A-11D-A32N-08	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	1	0	0	25	219	0	49		0	0	0	0	49	2		0	0	0	0	0	2	0	0.999999	0	215	0	49	2		0	0	0	0	49	2	-20.000000	1	0	0	0		1	0	1	1	1.566312	1	0.500000	1.910000	0.335548	0.300000	0.200000	0.430000	0.310000	0.315558	0.300000	0	2.500000e-01	3.700000e-01
SMAD4	4089	broad.mit.edu	37	18	48604785	48604785	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr18:48604785T>C	ENST00000342988.3	+	12	2145	c.1607T>C	c.(1606-1608)cTa>cCa	p.L536P	SMAD4_ENST00000588745.1_Missense_Mutation_p.L440P|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.L536P	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.L536fs*11(1)|p.L536Q(1)|p.L536fs*14(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CTCCAGCTCCTAGACGAAGTA	0.488000																								41	Whole gene deletion(36)|Deletion - Frameshift(2)|Unknown(2)|Substitution - Missense(1)	GRCh37	CI057962	SMAD4	I		SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502174	0.64298	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98474	-4.95;-4.95	6.07	6.07	0.98685	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	.	15.6232	0.76824	0.0:0.0:0.0:1.0	.	536	Q13485	SMAD4_HUMAN	P	536	ENSP00000341551:L536P;ENSP00000381452:L536P	ENSP00000341551:L536P	L	+	2	0	SMAD4	46858783	1.000000	0.71417	0.464000	0.27143	0.963000	0.63663	7.856000	0.86956	2.326000	0.78906	0.533000	0.62120	CTA		TCGA-PZ-A5RE-01A-11D-A32N-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	113	239	0	58	1	1	32	31	0	58	2	1	1	52	107	0	342	2	1	1.000000	111	236	0	57	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	0	1	1	1.566312	1	0.500000	1.910000	0.335548	0.930000	0.800000	1.000000	1.000000	0.931658	0.930000	1	8.700000e-01	9.900000e-01
SSBP4	170463	broad.mit.edu	37	19	18545046	18545046	+	Missense_Mutation	SNP	T	T	C			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:18545046T>C	ENST00000270061.7	+	18	1442	c.1148T>C	c.(1147-1149)aTg>aCg	p.M383T	SSBP4_ENST00000348495.6_Missense_Mutation_p.M361T|SSBP4_ENST00000599699.2_Missense_Mutation_p.M69T	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4			4					GGGATGACCATGAGCGTGTGA	0.716000																								0							SO:0001583	missense			ENST00000270061.7	1	1	hg19	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438264	0.62955	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.5	2.36	0.29203	.	0.000000	0.85682	U	0.000000	T	0.65964	0.2742	L	0.58101	1.795	0.46416	D	0.999039	D;D	0.76494	0.999;0.996	D;D	0.79108	0.992;0.967	T	0.66480	-0.5913	9	0.87932	D	0	-9.8727	5.5046	0.16846	0.2473:0.0:0.0:0.7527	.	361;383	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	T	383;361	.	ENSP00000270061:M383T	M	+	2	0	SSBP4	18406046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.606000	0.46291	1.393000	0.46605	0.397000	0.26171	ATG		TCGA-PZ-A5RE-01A-11D-A32N-08	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3	1	0	0	89	335	0	66	1	1	87	179	0	66	2		0	0	0	0	0	2	1	1.000000	88	330	0	66	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	0	0	0	2.026054	0	0.500000	1.910000	0.494949	0.820000	0.680000	0.980000	0.830000	0.833955	0.820000	0	7.500000e-01	9.100000e-01
ACTL9	284382	broad.mit.edu	37	19	8808041	8808041	+	Silent	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr19:8808041G>A	ENST00000324436.3	-	1	1131	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					AGAGAAGCACGTTTTGGGCCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000324436.3	1	1	hg19	CCDS12207.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	88	249	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	89	243	0	70	2		0	0	0	0	73	2	-20.000000	1	1	121362	3	37	1	0	1	1	2.038162	0	0.500000	1.910000	0.498747	0.990000	0.850000	1.000000	1.000000	0.980471	0.990000	1	9.400000e-01	1
RCSD1	92241	broad.mit.edu	37	1	167666774	167666774	+	Missense_Mutation	SNP	G	G	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:167666774G>T	ENST00000367854.3	+	6	1244	c.913G>T	c.(913-915)Gct>Tct	p.A305S	RCSD1_ENST00000537350.1_Missense_Mutation_p.A275S	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1			24	all_hematologic(923;0.215)				GGAAAAGCCAGCTGGAGAGGA	0.582000																								0							SO:0001583	missense			ENST00000367854.3	1	1	hg19	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065111	0.55432	.	.	ENSG00000198771	ENST00000367854;ENST00000537350	T;T	0.41758	0.99;0.99	4.97	0.767	0.18482	.	0.939217	0.09049	N	0.856052	T	0.12178	0.0296	L	0.27053	0.805	0.22240	N	0.999262	B;P	0.47409	0.288;0.895	B;P	0.50049	0.126;0.629	T	0.02983	-1.1086	9	0.07813	T	0.8	-1.646	1.7031	0.02876	0.2201:0.2709:0.3774:0.1316	.	275;305	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	S	305;275	ENSP00000356828:A305S;ENSP00000439409:A275S	ENSP00000356828:A305S	A	+	1	0	RCSD1	165933398	0.000000	0.05858	0.000000	0.03702	0.244000	0.25665	0.435000	0.21510	-0.057000	0.13199	0.585000	0.79938	GCT		TCGA-PZ-A5RE-01A-11D-A32N-08	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	1	0	1	14	34	0	15	0	9.647741e-01	0	17	0	15	2		0	0	0	0	0	2	1	0.999900	14	34	0	14	2		0	0	0	0	15	2	-20.000000	1	1	121324	1	24	1	1	2	3	2.086841	0	0.500000	1.910000	0.504950	0.990000	0.720000	1.000000	1.000000	0.969460	0.990000	1	9.300000e-01	1
PADI3	51702	broad.mit.edu	37	1	17593247	17593247	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:17593247G>A	ENST00000375460.3	+	5	482	c.442G>A	c.(442-444)Ggc>Agc	p.G148S		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III			32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		L-Citrulline(DB00155)	TGGGTATGGCGGCATCTTGCT	0.597000																								0							SO:0001583	missense			ENST00000375460.3	1	1	hg19	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146291	0.77888	.	.	ENSG00000142619	ENST00000375460	T	0.13538	2.58	5.15	5.15	0.70609	Protein-arginine deiminase (PAD), central domain (2);	0.052990	0.85682	D	0.000000	T	0.08846	0.0219	N	0.08118	0	0.40351	D	0.97913	B	0.32128	0.357	B	0.28139	0.086	T	0.26608	-1.0098	10	0.87932	D	0	-23.3232	17.1987	0.86900	0.0:0.0:1.0:0.0	.	148	Q9ULW8	PADI3_HUMAN	S	148	ENSP00000364609:G148S	ENSP00000364609:G148S	G	+	1	0	PADI3	17465834	1.000000	0.71417	0.655000	0.29622	0.831000	0.47069	8.699000	0.91316	2.403000	0.81681	0.561000	0.74099	GGC		TCGA-PZ-A5RE-01A-11D-A32N-08	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1	1	0	1	118	341	0	88	1	9.541041e-01	9	8	0	88	2		0	0	0	0	0	2	1	1.000000	114	340	0	87	2		0	0	0	0	88	2	-6.094170	1	1	121412	4	38	1	1	2	3	2.076294	0	0.500000	1.910000	0.502488	0.990000	0.870000	1.000000	1.000000	0.982391	0.990000	1	9.400000e-01	1
LEPR	3953	broad.mit.edu	37	1	66102496	66102496	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:66102496G>A	ENST00000349533.6	+	20	3481	c.3296G>A	c.(3295-3297)aGg>aAg	p.R1099K	LEPR_ENST00000406510.3_Missense_Mutation_p.R166K	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor			36					GACAAGTCAAGGGTATCGTGC	0.398000																								0							SO:0001583	missense			ENST00000349533.6	1	1	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.071802	0.00379	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.54866	0.55	5.11	2.09	0.27110	.	1.018570	0.07786	N	0.954206	T	0.15869	0.0382	L	0.54323	1.7	0.09310	N	1	B	0.21905	0.062	B	0.24394	0.053	T	0.32824	-0.9892	10	0.02654	T	1	-0.0346	1.9257	0.03316	0.2335:0.1353:0.4916:0.1395	.	1099	P48357	LEPR_HUMAN	K	1099;166	ENSP00000330393:R1099K	ENSP00000330393:R1099K	R	+	2	0	LEPR	65875084	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.953000	0.29162	0.273000	0.22049	-0.198000	0.12761	AGG		TCGA-PZ-A5RE-01A-11D-A32N-08	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	1	0	1	61	162	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	57	160	0	27	2		0	0	0	0	27	2	-5.117961	1	1	0	0		1	1	2	3	2.104892	0	0.500000	1.910000	0.507389	0.990000	0.880000	1.000000	1.000000	0.990063	0.990000	1	9.900000e-01	1
HFM1	164045	broad.mit.edu	37	1	91782011	91782011	+	Silent	SNP	G	G	A	rs74843031	byFrequency	TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr1:91782011G>A	ENST00000370425.3	-	26	2933	c.2835C>T	c.(2833-2835)atC>atT	p.I945I	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Silent_p.I177I|HFM1_ENST00000370424.3_Silent_p.I624I	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	p.I945I(1)		75		all_lung(203;0.00961)|Lung NSC(277;0.0351)			CAGCATTTACGATTGCATTTG	0.259000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000370425.3	1	0	hg19	CCDS30769.2	243	0.11126373626373626	47	0.09552845528455285	53	0.1464088397790055	78	0.13636363636363635	65	0.08575197889182058	G	8.343	0.829136	0.16749	0.106721	0.078205	ENSG00000162669	ENST00000430465	.	.	.	5.07	4.16	0.48862	.	.	.	.	.	T	0.55305	0.1912	.	.	.	0.09310	P	1.0	.	.	.	.	.	.	T	0.58255	-0.7668	3	.	.	.	.	15.3264	0.74168	0.0:0.8534:0.1466:0.0	.	.	.	.	L	157	.	.	S	-	2	0	HFM1	91554599	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.416000	0.59815	1.103000	0.41568	-0.357000	0.07601	TCG		TCGA-PZ-A5RE-01A-11D-A32N-08	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	0	0	1	85	293	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	1.000000	84	291	0	56	2		0	0	0	0	56	2	-0.812386	0	1	121388	11502	73	1	1	2	3	2.104892	0	0.500000	1.910000	0.507389	0.910000	0.740000	1.000000	1.000000	0.912492	0.910000	1	8.200000e-01	1
SRC	6714	broad.mit.edu	37	20	36014538	36014538	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr20:36014538C>T	ENST00000373578.2	+	5	660	c.311C>T	c.(310-312)tCc>tTc	p.S104F	SRC_ENST00000373567.2_Missense_Mutation_p.S104F|SRC_ENST00000373558.2_Missense_Mutation_p.S104F|SRC_ENST00000360723.4_Missense_Mutation_p.S104F|SRC_ENST00000445403.1_Missense_Mutation_p.S104F|SRC_ENST00000358208.4_Missense_Mutation_p.S104F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase			30		Myeloproliferative disorder(115;0.00878)		Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	ACAGACCTGTCCTTCAAGAAA	0.592000																								0							SO:0001583	missense			ENST00000373578.2	1	1	hg19	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275714	0.59649	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36	3.99	3.99	0.46301	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.93016	3.37	0.80722	D	1	D	0.63046	0.992	P	0.62089	0.898	T	0.82579	-0.0387	9	.	.	.	.	13.9562	0.64150	0.0:1.0:0.0:0.0	.	104	P12931	SRC_HUMAN	F	104	ENSP00000408503:S104F;ENSP00000362680:S104F;ENSP00000353950:S104F;ENSP00000350941:S104F;ENSP00000362668:S104F;ENSP00000362659:S104F	.	S	+	2	0	SRC	35447952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.761000	0.68801	2.222000	0.72286	0.561000	0.74099	TCC		TCGA-PZ-A5RE-01A-11D-A32N-08	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	1	0	1	223	645	0	144	1	1	35	48	0	144	2		0	0	0	0	0	2	1	1.000000	218	635	0	143	2		0	0	0	0	144	2	-20.000000	1	1	0	0		1	0	0	0	2.044869	0	0.500000	1.910000	0.500000	0.990000	0.900000	1.000000	1.000000	0.987966	0.990000	1	9.600000e-01	1
PFKL	5211	broad.mit.edu	37	21	45744744	45744744	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr21:45744744C>T	ENST00000349048.4	+	18	1876	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N	PFKL_ENST00000403390.1_Silent_p.N654N	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver			23					CGCAGGTCAACGTGGAGCACA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000349048.4	0	1	hg19	CCDS33582.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1	0	0	0	4	62	0	10	0	9.999228e-01	0	542	0	10	2		0	0	0	0	0	2	0	0.872979	1	60	0	10	2		0	0	0	0	10	2	-8.428394	1	0	121170	1	25	1	1	2	3	2.077640	0	0.500000	1.910000	0.504950	0.270000	0.090000	1.000000	0.240000	0.313068	0.270000	0	1.600000e-01	4.300000e-01
DNAH7	56171	broad.mit.edu	37	2	196674543	196674543	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:196674543G>A	ENST00000312428.6	-	52	9914	c.9814C>T	c.(9814-9816)Cgg>Tgg	p.R3272W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7			205					AAGAGTGACCGGCAGACATTA	0.353000																								0							SO:0001583	missense			ENST00000312428.6	1	1	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115184	0.94339	.	.	ENSG00000118997	ENST00000312428	T	0.80653	-1.4	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96201	0.9145	10	0.87932	D	0	.	19.2483	0.93912	0.0:0.0:1.0:0.0	.	3272	Q8WXX0	DYH7_HUMAN	W	3272	ENSP00000311273:R3272W	ENSP00000311273:R3272W	R	-	1	2	DNAH7	196382788	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.489000	0.97949	2.882000	0.98803	0.655000	0.94253	CGG		TCGA-PZ-A5RE-01A-11D-A32N-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	1	0	1	74	172	0	20	0	9.230470e-02	1	1	0	20	2		0	0	0	0	0	2	1	1.000000	75	168	0	20	2		0	0	0	0	20	2	-6.950865	1	1	120800	4	40	1	0	0	0	2.046581	0	0.500000	1.910000	0.500000	0.990000	0.970000	1.000000	1.000000	0.998509	0.990000	1	9.900000e-01	1
ANKRD39	51239	broad.mit.edu	37	2	97523690	97523690	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr2:97523690C>A	ENST00000393537.4	-	1	142	c.35G>T	c.(34-36)tGc>tTc	p.C12F		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39			6					ATGCGAGCAGCAGGGCCCGTC	0.741000																								0							SO:0001583	missense			ENST00000393537.4	0	1	hg19	CCDS2028.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705142	0.68615	.	.	ENSG00000213337	ENST00000393537	T	0.66995	-0.24	4.81	4.81	0.61882	.	0.000000	0.64402	U	0.000001	T	0.78285	0.4259	L	0.59436	1.845	0.48395	D	0.999647	D	0.89917	1.0	D	0.76575	0.988	T	0.79546	-0.1759	10	0.59425	D	0.04	-17.3271	14.9126	0.70770	0.0:1.0:0.0:0.0	.	12	Q53RE8	ANR39_HUMAN	F	12	ENSP00000377170:C12F	ENSP00000377170:C12F	C	-	2	0	ANKRD39	96887417	1.000000	0.71417	0.956000	0.39512	0.073000	0.16967	6.187000	0.72039	2.507000	0.84556	0.655000	0.94253	TGC		TCGA-PZ-A5RE-01A-11D-A32N-08	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2	0	0	0	5	42	0	9	0	7.324037e-01	0	23	0	9	2		0	0	0	0	0	2	0	0.916293	0	41	0	9	2		0	0	0	0	9	2	-11.232160	1	0	0	0		1	1	2	3	2.065166	0	0.500000	1.910000	0.502488	0.450000	0.180000	0.940000	0.420000	0.486386	0.450000	0	2.900000e-01	6.700000e-01
NBEAL2	23218	broad.mit.edu	37	3	47048744	47048744	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr3:47048744C>T	ENST00000450053.3	+	47	7417	c.7238C>T	c.(7237-7239)gCc>gTc	p.A2413V	NBEAL2_ENST00000383740.2_Missense_Mutation_p.A662V|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2229V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2			51		Acute lymphoblastic leukemia(5;0.0534)			ACTGTGAGTGCCAGTGGGCTG	0.597000																								0							SO:0001583	missense			ENST00000450053.3	0	1	hg19	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.020153|4.020153	0.75275|0.75275	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000416683	T;T;T|.	0.43688|.	0.94;0.95;0.94|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.117338|.	0.64402|.	D|.	0.000018|.	T|T	0.69115|0.69115	0.3075|0.3075	L|L	0.54323|0.54323	1.7|1.7	0.51482|0.51482	D|D	0.999927|0.999927	D;B|.	0.59767|.	0.986;0.076|.	P;B|.	0.56398|.	0.797;0.04|.	T|T	0.67684|0.67684	-0.5607|-0.5607	10|5	0.30854|.	T|.	0.27|.	.|.	16.0625|16.0625	0.80847|0.80847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2229;2413|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	V|S	2229;662;2413;356|1701	ENSP00000292309:A2229V;ENSP00000373246:A662V;ENSP00000415034:A2413V|.	ENSP00000292309:A2229V|.	A|P	+|+	2|1	0|0	NBEAL2|NBEAL2	47023748|47023748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.385000|4.385000	0.59613|0.59613	2.358000|2.358000	0.79984|0.79984	0.609000|0.609000	0.83330|0.83330	GCC|CCA		TCGA-PZ-A5RE-01A-11D-A32N-08	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	1	0	1	17	77	0	10	1	9.999994e-01	54	79	0	10	2		0	0	0	0	0	2	1	0.999981	17	77	0	10	2		0	0	0	0	10	2	-20.000000	1	1	120882	1	27	1	1	2	3	2.065945	0	0.500000	1.910000	0.502488	0.730000	0.450000	1.000000	1.000000	0.743429	0.730000	0	5.800000e-01	9.100000e-01
DCHS2	54798	broad.mit.edu	37	4	155219098	155219098	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:155219098G>A	ENST00000357232.4	-	18	5002	c.5003C>T	c.(5002-5004)aCg>aTg	p.T1668M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2			176	all_hematologic(180;0.208)	Renal(120;0.0854)			CAAGAGACCCGTGGTTGTCCT	0.453000																								0							SO:0001583	missense			ENST00000357232.4	1	1	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	7.042	0.562678	0.13498	.	.	ENSG00000197410	ENST00000357232	T	0.63744	-0.06	5.82	-0.253	0.12996	Cadherin (3);Cadherin-like (1);	0.840880	0.10403	N	0.678873	T	0.50411	0.1614	M	0.84326	2.69	0.09310	N	1	P	0.39737	0.685	B	0.21708	0.036	T	0.42085	-0.9472	10	0.31617	T	0.26	.	2.6536	0.05005	0.2432:0.2088:0.4478:0.1002	.	1668	Q6V1P9	PCD23_HUMAN	M	1668	ENSP00000349768:T1668M	ENSP00000349768:T1668M	T	-	2	0	DCHS2	155438548	0.004000	0.15560	0.000000	0.03702	0.384000	0.30261	0.265000	0.18515	-0.137000	0.11455	0.650000	0.86243	ACG		TCGA-PZ-A5RE-01A-11D-A32N-08	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	1	0	1	79	189	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	1.000000	77	188	0	28	2		0	0	0	0	28	2	-20.000000	1	1	121410	5	37	1	1	2	3	2.078093	0	0.500000	1.910000	0.504950	0.990000	0.970000	1.000000	1.000000	0.998436	0.990000	1	9.900000e-01	1
TLR6	10333	broad.mit.edu	37	4	38829687	38829687	+	Missense_Mutation	SNP	C	C	T	rs55833598		TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr4:38829687C>T	ENST00000381950.1	-	1	1473	c.1408G>A	c.(1408-1410)Gta>Ata	p.V470I	TLR6_ENST00000436693.2_Missense_Mutation_p.V470I			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6			22					TCCAGTTTTACGACTTGTTTA	0.383000																								0							SO:0001583	missense			ENST00000381950.1	1	0	hg19	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.242853	0.00274	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.56444	0.46;0.46	5.14	-0.835	0.10775	.	1.243260	0.05633	N	0.582058	T	0.32734	0.0839	N	0.17631	0.505	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.12430	T	0.62	.	6.6415	0.22911	0.1226:0.2076:0.0:0.6698	.	470	Q9Y2C9	TLR6_HUMAN	I	470	ENSP00000389600:V470I;ENSP00000371376:V470I	ENSP00000371376:V470I	V	-	1	0	TLR6	38506082	0.000000	0.05858	0.010000	0.14722	0.001000	0.01503	-2.359000	0.01085	0.282000	0.22254	-1.738000	0.00688	GTA		TCGA-PZ-A5RE-01A-11D-A32N-08	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	1	0	1	99	347	0	67	0	3.110819e-01	0	5	0	67	2		0	0	0	0	0	2	1	1.000000	96	331	0	69	2		0	0	0	0	67	2	-3.071839	1	1	121412	2	49	1	1	2	3	2.078093	0	0.500000	1.910000	0.504950	0.890000	0.740000	1.000000	1.000000	0.898503	0.890000	1	8.100000e-01	9.900000e-01
ABCB5	340273	broad.mit.edu	37	7	20744419	20744419	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:20744419C>A	ENST00000404938.2	+	20	3062	c.2410C>A	c.(2410-2412)Caa>Aaa	p.Q804K	ABCB5_ENST00000258738.6_Missense_Mutation_p.Q359K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5			77					AGATATAGCACAAATTCAAGG	0.363000																								0							SO:0001583	missense			ENST00000404938.2	1	1	hg19	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145226	0.37825	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.88277	-2.36;-2.36	4.66	3.77	0.43336	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.56097	D	0.000034	D	0.86711	0.5998	L	0.43152	1.355	0.30338	N	0.78601	P;P	0.43701	0.62;0.815	B;P	0.50537	0.223;0.643	T	0.83198	-0.0080	10	0.52906	T	0.07	.	6.0394	0.19726	0.0:0.7051:0.1939:0.1009	.	804;359	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	K	804;359	ENSP00000384881:Q804K;ENSP00000258738:Q359K	ENSP00000258738:Q359K	Q	+	1	0	ABCB5	20710944	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.445000	0.35079	2.591000	0.87537	0.462000	0.41574	CAA		TCGA-PZ-A5RE-01A-11D-A32N-08	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	1	0	1	59	133	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1.000000	57	133	0	31	2		0	0	0	0	31	2	-20.000000	1	1	0	0		1	1	2	3	2.557740	1	0.500000	1.910000	0.599198	0.990000	0.990000	1.000000	1.000000	0.999993	0.990000	1	9.900000e-01	1
ABCB1	5243	broad.mit.edu	37	7	87138667	87138667	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:87138667C>A	ENST00000265724.3	-	27	3830	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	ABCB1_ENST00000543898.1_Missense_Mutation_p.R1074L|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1			111	Esophageal squamous(14;0.00164)			Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGACACCACCCGGCTGTTGTC	0.512000																								0							SO:0001583	missense			ENST00000265724.3	1	1	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789644	0.70337	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88586	-2.39;-2.4	6.06	6.06	0.98353	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.052964	0.64402	D	0.000001	D	0.89280	0.6670	N	0.25426	0.745	0.80722	D	1	P;D	0.63880	0.933;0.993	P;P	0.54401	0.701;0.751	D	0.90156	0.4224	10	0.87932	D	0	-11.022	19.6164	0.95636	0.0:1.0:0.0:0.0	.	1074;1138	B5AK60;P08183	.;MDR1_HUMAN	L	919;1138;1074	ENSP00000265724:R1138L;ENSP00000444095:R1074L	ENSP00000265724:R1138L	R	-	2	0	ABCB1	86976603	1.000000	0.71417	0.973000	0.42090	0.768000	0.43524	4.938000	0.63519	2.871000	0.98454	0.655000	0.94253	CGG		TCGA-PZ-A5RE-01A-11D-A32N-08	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1	219	378	0	81	1	9.999875e-01	16	16	0	81	2		0	0	0	0	0	2	1	1.000000	218	371	0	81	2		0	0	0	0	81	2	-19.999760	1	1	0	0		1	1	2	3	2.553520	1	0.500000	1.910000	0.600000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
AZGP1	563	broad.mit.edu	37	7	99564799	99564799	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr7:99564799C>T	ENST00000292401.4	-	4	860	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding			16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				ACCTCGCCGGCCCGAGTCCAG	0.582000																								0							SO:0001583	missense			ENST00000292401.4	0	1	hg19	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390198	0.25118	.	.	ENSG00000160862	ENST00000292401	T	0.02812	4.15	2.17	2.17	0.27698	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.894418	0.09063	U	0.853996	T	0.04137	0.0115	L	0.42245	1.32	0.21386	N	0.999706	B	0.22683	0.073	B	0.32928	0.155	T	0.42632	-0.9440	10	0.87932	D	0	.	5.3065	0.15807	0.0:0.8132:0.0:0.1868	.	242	P25311	ZA2G_HUMAN	T	242	ENSP00000292401:A242T	ENSP00000292401:A242T	A	-	1	0	AZGP1	99402735	0.000000	0.05858	0.040000	0.18447	0.040000	0.13550	-0.072000	0.11486	1.130000	0.42092	0.313000	0.20887	GCC		TCGA-PZ-A5RE-01A-11D-A32N-08	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	1	0	1	49	90	0	32	1	9.999996e-01	42	6	0	32	2		0	0	0	0	0	2	1	1.000000	47	86	0	35	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	1.524028	1	0.500000	1.910000	0.333333	0.930000	0.770000	1.000000	0.990000	0.926127	0.930000	1	8.600000e-01	9.900000e-01
DLGAP2	9228	broad.mit.edu	37	8	1581003	1581003	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:1581003C>T	ENST00000421627.2	+	5	1495	c.1361C>T	c.(1360-1362)gCg>gTg	p.A454V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			GTGAGCGAGGCGGAGATCAAT	0.577000																								0							SO:0001583	missense			ENST00000421627.2	1	1	hg19	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352046|2.352046	0.41700|0.41700	4.58E-4|4.58E-4	0.0|0.0	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	D|.	0.91407|.	-2.84|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.052101|.	0.85682|.	D|.	0.000000|.	T|T	0.68760|0.68760	0.3036|0.3036	L|L	0.47016|0.47016	1.485|1.485	0.42839|0.42839	D|D	0.99404|0.99404	P;P|.	0.45240|.	0.854;0.773|.	B;B|.	0.42827|.	0.399;0.121|.	T|T	0.65981|0.65981	-0.6036|-0.6036	10|5	0.39692|.	T|.	0.17|.	-15.8913|-15.8913	18.7837|18.7837	0.91946|0.91946	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	533;533|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|W	499;454|471	ENSP00000400258:A454V|.	ENSP00000348366:A499V|.	A|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1568410|1568410	1.000000|1.000000	0.71417|0.71417	0.329000|0.329000	0.25429|0.25429	0.132000|0.132000	0.20833|0.20833	7.023000|7.023000	0.76437|0.76437	2.475000|2.475000	0.83589|0.83589	0.555000|0.555000	0.69702|0.69702	GCG|CGG		TCGA-PZ-A5RE-01A-11D-A32N-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	28	67	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	1.000000	28	67	0	16	2		0	0	0	0	18	2	-19.999890	1	1	121270	9	40	1	1	2	3	2.098846	0	0.500000	1.910000	0.507389	0.990000	0.850000	1.000000	1.000000	0.988810	0.990000	1	9.900000e-01	1
ANK1	286	broad.mit.edu	37	8	41513269	41513269	+	Missense_Mutation	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:41513269G>A	ENST00000347528.4	-	42	5706	c.5623C>T	c.(5623-5625)Cac>Tac	p.H1875Y	ANK1_ENST00000396945.1_Missense_Mutation_p.H1800Y|ANK1_ENST00000289734.7_3'UTR|ANK1_ENST00000457297.1_Missense_Mutation_p.H103Y|ANK1_ENST00000396942.1_3'UTR|ANK1_ENST00000522543.1_Missense_Mutation_p.H150Y|ANK1_ENST00000379758.2_Missense_Mutation_p.H1828Y|ANK1_ENST00000352337.4_3'UTR|ANK1_ENST00000522231.1_Missense_Mutation_p.H125Y|ANK1_ENST00000314214.8_3'UTR|ANK1_ENST00000265709.8_Missense_Mutation_p.H1891Y	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic			122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		GTCGAGGTGTGATCCTGGGAG	0.567000																								0							SO:0001583	missense			ENST00000347528.4	1	1	hg19	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862420	0.71949	.	.	ENSG00000029534	ENST00000347528;ENST00000379758;ENST00000396945;ENST00000457297;ENST00000522231;ENST00000522543;ENST00000265709;ENST00000348036	T;T;T;D;D;T	0.86164	-0.07;-0.04;-0.01;-1.62;-2.08;-0.07	5.14	5.14	0.70334	.	.	.	.	.	D	0.84325	0.5447	N	0.03608	-0.345	0.80722	D	1	P;B;B;B;B;B;B	0.48294	0.908;0.435;0.232;0.308;0.232;0.435;0.004	D;B;B;B;B;B;B	0.64144	0.922;0.135;0.135;0.064;0.135;0.136;0.004	D	0.86941	0.2079	9	0.41790	T	0.15	.	15.758	0.78051	0.0:0.0:1.0:0.0	.	125;1891;1713;1875;1850;103;150	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;A0PJN8;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.	Y	1875;1828;1800;103;125;150;1891;103	ENSP00000339620:H1875Y;ENSP00000369082:H1828Y;ENSP00000380149:H1800Y;ENSP00000428750:H125Y;ENSP00000430368:H150Y;ENSP00000265709:H1891Y	ENSP00000265709:H1891Y	H	-	1	0	ANK1	41632426	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	4.123000	0.57917	2.383000	0.81215	0.563000	0.77884	CAC		TCGA-PZ-A5RE-01A-11D-A32N-08	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	1	0	1	116	212	0	59	0	8.343013e-01	0	8	0	59	2		0	0	0	0	0	2	1	1.000000	114	209	0	57	2		0	0	0	0	59	2	-20.000000	1	1	0	0		1						0.500000	1.910000									0	0
RUNX1T1	862	broad.mit.edu	37	8	92983007	92983007	+	Missense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chr8:92983007C>T	ENST00000523629.1	-	11	1872	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R473Q|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R446Q|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R436Q|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R484Q|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R436Q	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)			86			BRCA - Breast invasive adenocarcinoma(11;0.0141)		GTGGGCTTTCCGCTCCGCCTC	0.617000																								0							SO:0001583	missense			ENST00000523629.1	1	1	hg19	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672112	0.88348	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	L	0.39326	1.205	0.80722	D	1	B;P;B;P	0.45827	0.285;0.824;0.44;0.867	B;B;B;B	0.41412	0.044;0.356;0.02;0.249	T	0.11591	-1.0581	10	0.07990	T	0.79	-15.8283	20.2182	0.98305	0.0:1.0:0.0:0.0	.	484;436;473;446	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	Q	473;446;473;436;436;436;484;446	ENSP00000428543:R473Q;ENSP00000379520:R446Q;ENSP00000265814:R473Q;ENSP00000353504:R436Q;ENSP00000390137:R436Q;ENSP00000428742:R436Q;ENSP00000402257:R484Q;ENSP00000430728:R446Q	ENSP00000265814:R473Q	R	-	2	0	RUNX1T1	93052183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	CGG		TCGA-PZ-A5RE-01A-11D-A32N-08	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	1	0	1	67	231	0	34	0	3.168156e-01	0	5	0	34	2		0	0	0	0	0	2	1	1.000000	66	230	0	34	2		0	0	0	0	34	2	-3.795612	1	1	121412	2	32	1	0	0	0	2.047590	0	0.500000	1.910000	0.500000	0.890000	0.710000	1.000000	1.000000	0.895015	0.890000	1	8.000000e-01	1
MAGEC1	9947	broad.mit.edu	37	X	140993257	140993257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:140993257C>T	ENST00000285879.4	+	4	353	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1			127	Acute lymphoblastic leukemia(192;6.56e-05)				TGAGAGTCCTCAGAGTTGTCC	0.567000										HNSCC(15;0.026)														0							SO:0001587	stop_gained			ENST00000285879.4	0	1	hg19	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	15.25	2.779207	0.49891	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	23;23;22	.	ENSP00000285879:Q23X	Q	+	1	0	MAGEC1	140820923	0.009000	0.17119	0.007000	0.13788	0.007000	0.05969	0.156000	0.16382	0.177000	0.19895	0.179000	0.17066	CAG		TCGA-PZ-A5RE-01A-11D-A32N-08	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	1	0	1	181	470	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	1.000000	180	458	0	103	2		0	0	0	0	102	2	-9.187218	1	1	0	0		1	0	1	1			0.500000	1.910000	0.500000	0.990000	0.970000	1.000000	1.000000	0.998550	0.990000	1	9.900000e-01	1
ATP2B3	492	broad.mit.edu	37	X	152808544	152808544	+	Silent	SNP	C	C	T			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:152808544C>T	ENST00000349466.2	+	6	1160	c.834C>T	c.(832-834)gcC>gcT	p.A278A	ATP2B3_ENST00000263519.4_Silent_p.A278A|ATP2B3_ENST00000370181.2_Silent_p.A278A|ATP2B3_ENST00000370186.1_Silent_p.A278A|ATP2B3_ENST00000359149.3_Silent_p.A278A|ATP2B3_ENST00000393842.1_Silent_p.A278A			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3			50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TGGTGACCGCCGTTGGCGTGA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000349466.2	1	1	hg19	CCDS35440.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	1	0	1	144	367	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1.000000	143	358	0	67	2		0	0	0	0	67	2	-8.106357	1	1	121410	1	35	1	0	1	1			0.500000	1.910000	0.500000	0.990000	0.970000	1.000000	1.000000	0.998403	0.990000	1	9.900000e-01	1
CCDC120	90060	broad.mit.edu	37	X	48923087	48923087	+	Missense_Mutation	SNP	C	C	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:48923087C>A	ENST00000376396.3	+	8	1004	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	CCDC120_ENST00000603986.1_Missense_Mutation_p.P297Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.P250Q|CCDC120_ENST00000597275.1_Missense_Mutation_p.P262Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.P262Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.P262Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120			14					CGGCGAACCCCATGGAAACCA	0.652000																								0							SO:0001583	missense			ENST00000376396.3	1	1	hg19	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424697	0.62733	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	5.15	3.26	0.37387	.	0.307063	0.35739	N	0.003002	T	0.39886	0.1095	L	0.34521	1.04	0.31337	N	0.684066	D;D;D;D	0.62365	0.99;0.981;0.981;0.991	P;P;P;P	0.56398	0.797;0.593;0.593;0.593	T	0.38090	-0.9677	9	0.27785	T	0.31	-5.9551	6.3643	0.21445	0.0:0.6106:0.2853:0.1041	.	250;297;250;262	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	Q	262;262;250	.	ENSP00000365577:P262Q	P	+	2	0	CCDC120	48810031	0.979000	0.34478	0.899000	0.35326	0.993000	0.82548	2.661000	0.46758	1.088000	0.41272	0.529000	0.55759	CCA		TCGA-PZ-A5RE-01A-11D-A32N-08	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1	1	0	1	54	171	0	25	0	9.727243e-01	0	21	0	25	2		0	0	0	0	0	2	1	1.000000	54	169	0	25	2		0	0	0	0	25	2	-20.000000	1	1	0	0		1	0	1	1			0.500000	1.910000	0.500000	0.950000	0.740000	1.000000	1.000000	0.934758	0.950000	1	8.400000e-01	1
SHROOM4	57477	broad.mit.edu	37	X	50378665	50378665	+	Silent	SNP	G	G	A			TCGA-PZ-A5RE-01A-11D-A32N-08	TCGA-PZ-A5RE-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12e8c551-d2c7-48e7-9b07-fa35a0d72776	a630c46b-cbf6-4d8b-91a2-900a19b9eebb	g.chrX:50378665G>A	ENST00000289292.7	-	4	691	c.408C>T	c.(406-408)gaC>gaT	p.D136D	SHROOM4_ENST00000460112.3_Silent_p.D20D|SHROOM4_ENST00000376020.2_Silent_p.D136D			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				GCACACACACGTCACTGTAAG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000289292.7	1	1	hg19	CCDS35277.1																																																																																				TCGA-PZ-A5RE-01A-11D-A32N-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	57	124	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	1.000000	56	123	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	0	1	1			0.500000	1.910000	0.500000	0.990000	0.990000	1.000000	1.000000	0.998872	0.990000	1	9.900000e-01	1