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
CDKN2A	1029	broad.mit.edu	37	9	21971010	21971026	+	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	rs104894104		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			GTCCACGGGCAGACGGC	-	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	ENST00000304494.5	-	2	602_618	c.332_348delGCCGTCTGCCCGTGGAC	c.(331-348)ggccgtctgcccgtggacfs	p.GRLPVD111fs	CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GRLPVD60fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC	0.728000	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1426	Whole gene deletion(1316)|Substitution - Missense(52)|Unknown(44)|Deletion - Frameshift(6)|Substitution - coding silent(6)|Insertion - Frameshift(2)	GRCh37	CI962238|CM004887|CM013695|CM014526|CM983988|CX073790	CDKN2A	I|M|X	rs104894104|rs121913386	SO:0001589	frameshift_variant			ENST00000304494.5	0	1	hg19	CCDS6510.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	13	189	0	34	0	0	0	0	0	0		1	9.999760e-01	13	284	0	430	2	1	0.999738	22	194	0	34	2								-17.526030	1	1	0	0		1	0	1	1	1.907552	0	0.160000	1.970000	0.086957	0.700000	0.400000	0.970000	0.710000	0.709172	0.700000	0	0.540000	0.870000
BEND7	222389	broad.mit.edu	37	10	13534699	13534699	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	ENST00000396900.2	-	5	748	c.749T>A	c.(748-750)cTa>cAa	p.L250Q	BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000341083.3_Missense_Mutation_p.L198Q|BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q			Q8N7W2	BEND7_HUMAN	BEN domain containing 7			17					GAGAGCAGATAGCTCAGAGGC	0.522000																								0							SO:0001583	missense			ENST00000396900.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	0.062000	-1.222652	0.015300	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.42900	0.97;0.96;1.01;1.0	5.570000	1.770000	0.247750	.	1.910940	0.01827	N	0.034462	T	0.14743	0.0356	N	0.01352	-0.895	0.188730	N	0.999986	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.25537	-1.0129	10	0.11794	T	0.64	-0.0468	0.976300	0.014260	0.1446:0.1993:0.205:0.4511	.	263;198	E5RFC0;Q8N7W2-3	.;.	Q	250;198;263;211	ENSP00000380108:L250Q;ENSP00000345773:L198Q;ENSP00000380107:L263Q;ENSP00000367868:L211Q	ENSP00000345773:L198Q	L	-	2	0	BEND7	13574705	0.168000	0.229890	0.353000	0.257470	0.028000	0.117280	0.366000	0.203650	0.404000	0.255060	-0.347000	0.078160	CTA		TCGA-IB-7649-01A-11D-2154-08	BEND7-202	KNOWN	basic	protein_coding	protein_coding		1	0	0	77	941	0	128	0	4.574059e-01	0	20	0	128	2		0	0	0	0	0	2	1	1.000000	73	927	0	127	2								-20.000000	1	1	0	0		1	0	0	0	1.954395	0	0.160000	1.970000	0.135091	0.910000	0.720000	1.000000	1.000000	0.909130	0.910000	1	0.810000	1.000000
SLC29A3	55315	broad.mit.edu	37	10	73115969	73115969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:73115969T>C	ENST00000373189.5	+	5	794	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3			15					CATGGGACTCTACCTGCTGCT	0.557000													Esophageal Squamous(200;1319 2142 18949 31248 39672)											0							SO:0001583	missense			ENST00000373189.5	0	1	hg19	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	T	15.960000	2.986026	0.539340	.	.	ENSG00000198246	ENST00000373189	T	0.69040	-0.37	4.640000	4.640000	0.579460	.	0.079672	0.52532	D	0.000066	D	0.83271	0.5218	M	0.90922	3.16	0.462410	D	0.998940	P	0.52692	0.955	D	0.63283	0.913	D	0.89602	0.3835	9	0.87932	D	0	-16.1853	12.808400	0.576260	0.0:0.0:0.0:1.0	.	248	Q9BZD2	S29A3_HUMAN	H	248	ENSP00000362285:Y248H	ENSP00000362285:Y248H	Y	+	1	0	SLC29A3	72785975	1.000000	0.714170	1.000000	0.803570	0.084000	0.178310	7.100000	0.769890	1.961000	0.569910	0.460000	0.390300	TAC		TCGA-IB-7649-01A-11D-2154-08	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	0	0	0	15	413	0	60	1	1.717905e-01	3	17	0	60	2		0	0	0	0	0	2	1	0.999844	15	400	0	60	2								-14.941180	1	1	121412	1	34	1	0	0	0	1.969661	0	0.160000	1.970000	0.142157	0.430000	0.250000	0.670000	0.430000	0.449034	0.430000	0	0.330000	0.550000
BTAF1	9044	broad.mit.edu	37	10	93711219	93711219	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	ENST00000265990.6	+	5	768	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa			59		Colorectal(252;0.0846)			GAAGAAACTTGGCCTTAATAT	0.363000																								0							SO:0001583	missense			ENST00000265990.6	1	1	hg19	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	26.700000	4.762311	0.899320	.	.	ENSG00000095564	ENST00000265990	D	0.96041	-3.89	4.970000	4.970000	0.658230	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.84082	2.675	0.807220	D	1.000000	D	0.89917	1.0	D	0.70487	0.969	D	0.98183	1.0458	10	0.59425	D	0.04	-22.9285	18.594900	0.912260	0.0:0.0:1.0:0.0	.	154	O14981	BTAF1_HUMAN	R	154	ENSP00000265990:G154R	ENSP00000265990:G154R	G	+	1	0	BTAF1	93701199	1.000000	0.714170	1.000000	0.803570	0.988000	0.763860	9.420000	0.974260	2.478000	0.836690	0.467000	0.429560	GGC		TCGA-IB-7649-01A-11D-2154-08	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	1	0	0	34	461	0	65	0	3.890198e-01	0	19	0	65	2		0	0	0	0	0	2	1	1.000000	34	455	0	64	2								-3.017765	1	1	0	0		1	0	0	0	1.969661	0	0.160000	1.970000	0.142157	0.830000	0.590000	1.000000	1.000000	0.839907	0.830000	0	0.700000	0.980000
MRVI1	10335	broad.mit.edu	37	11	10597887	10597887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	ENST00000436272.1	-	20	2728	c.2650G>T	c.(2650-2652)Gag>Tag	p.E884*	MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000547195.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|LYVE1_ENST00000531706.1_Intron			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog			22					TCCTACTGCTCTGTAGGCTGC	0.577000																								0							SO:0001587	stop_gained			ENST00000436272.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	37.000000	6.421158	0.975550	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	.	.	.	5.820000	5.820000	0.927950	.	0.067651	0.56097	D	0.000025	.	.	.	.	.	.	0.482360	D	0.999611	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5337	17.893600	0.888790	0.0:1.0:0.0:0.0	.	.	.	.	X	902;885;884;820;820;596;596;911;705;903;820	.	ENSP00000307885:E885X	E	-	1	0	MRVI1	10554463	1.000000	0.714170	0.995000	0.509660	0.761000	0.431860	5.018000	0.640540	2.757000	0.946810	0.655000	0.942530	GAG		TCGA-IB-7649-01A-11D-2154-08	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	25	192	0	28	0	8.910128e-01	0	32	0	28	2	0	0	0	1	0	0	2	1	1.000000	26	190	0	28	2								-6.550968	1	1	0	0		1	1	2	3	2.128915	1	0.160000	1.970000	0.222222	0.990000	0.990000	1.000000	1.000000	0.998993	0.990000	1	0.990000	1.000000
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	ENST00000265840.7	+	12	1225	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1			19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)			CAGACATGGCGCTGTGCCCAC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000265840.7	1	1	hg19	CCDS44723.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	1	0	1	166	772	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	1.000000	163	764	0	156	2								-20.000000	1	1	121008	3	38	1	1	2	3	2.130045	1	0.160000	1.970000	0.222222	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SPTBN2	6712	broad.mit.edu	37	11	66468444	66468444	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	ENST00000533211.1	-	17	3457	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2			74					CGGTCTGCACCTCTCTCAGCC	0.692000																								0							SO:0001583	missense			ENST00000533211.1	1	1	hg19	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	9.744000	1.165688	0.215380	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35048	1.33;1.33;1.33	4.700000	3.790000	0.435880	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.49350	1.555	0.445620	D	0.997521	B	0.18013	0.025	B	0.20384	0.029	T	0.11991	-1.0565	10	0.33940	T	0.23	.	4.185100	0.103930	0.1848:0.6269:0.0:0.1883	.	1042	O15020	SPTN2_HUMAN	D	1042	ENSP00000432568:E1042D;ENSP00000311489:E1042D;ENSP00000433593:E1042D	ENSP00000311489:E1042D	E	-	3	2	SPTBN2	66225020	0.922000	0.312690	0.995000	0.509660	0.397000	0.306590	0.092000	0.150660	1.212000	0.433660	-0.339000	0.080880	GAG		TCGA-IB-7649-01A-11D-2154-08	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	1	0	1	47	264	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	46	259	0	38	2								-20.000000	1	1	0	0		1	1	2	3	2.119821	1	0.160000	1.970000	0.222222	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LRP5	4041	broad.mit.edu	37	11	68190978	68190978	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	ENST00000294304.7	+	14	3155	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					GACCTCTCTGAGCCAAGGCCA	0.587000																								0							SO:0001583	missense			ENST00000294304.7	1	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	12.730000	2.026432	0.357010	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	4.030000	-2.070000	0.072760	Six-bladed beta-propeller, TolB-like (1);	0.252624	0.26106	U	0.026301	D	0.83603	0.5290	L	0.32530	0.975	0.093100	N	1.000000	P;P	0.40875	0.731;0.731	B;B	0.42087	0.375;0.375	T	0.77051	-0.2731	10	0.54805	T	0.06	.	9.143400	0.369170	0.6278:0.0:0.3722:0.0	.	1017;1017	Q9UES7;O75197	.;LRP5_HUMAN	C	1017	ENSP00000294304:S1017C	ENSP00000294304:S1017C	S	+	1	0	LRP5	67947554	0.013000	0.178240	0.008000	0.141370	0.893000	0.520530	0.331000	0.197330	-0.329000	0.085270	0.397000	0.261710	AGC		TCGA-IB-7649-01A-11D-2154-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	1	0	1	122	694	0	115	1	9.999779e-01	29	57	0	115	2		0	0	0	0	0	2	1	1.000000	118	674	0	113	2								-20.000000	1	1	0	0		1	1	2	3	2.119821	1	0.160000	1.970000	0.222222	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
GAB2	9846	broad.mit.edu	37	11	77937956	77937956	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	ENST00000361507.4	-	4	847	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P216P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2		INTS4/GAB2(2)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		TGTGCCGGCTCGGCTTGGGAA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000361507.4	1	1	hg19	CCDS8259.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	1	0	0	27	373	0	60	1	4.550257e-01	2	20	0	60	2		0	0	0	0	0	2	1	1.000000	27	356	0	56	2								-3.075761	1	1	121412	4	36	1	1	2	3	2.119821	1	0.160000	1.970000	0.222222	0.910000	0.620000	1.000000	1.000000	0.891668	0.910000	1	0.750000	1.000000
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	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	21.300000	4.133750	0.776620	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.770000	5.770000	0.911460	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.807220	D	1.000000	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	.	9.983600	0.418280	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	0.714170	1.000000	0.803570	0.999000	0.989320	2.240000	0.430880	2.326000	0.789060	0.533000	0.621200	CAA		TCGA-IB-7649-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	36	382	0	49	1	6.719822e-01	5	21	0	49	2	1	1	45	388	0	732	2	1	1.000000	36	379	0	49	2								-20.000000	1	1	0	0		1	0	1	1	2.003622	0	0.160000	1.970000	0.155949	0.990000	0.760000	1.000000	1.000000	0.967083	0.990000	1	0.900000	1.000000
NBEA	26960	broad.mit.edu	37	13	35883716	35883716	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:35883716A>G	ENST00000400445.3	+	36	6424	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V|NBEA_ENST00000540320.1_Missense_Mutation_p.I1964V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin			108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)			TATTGAGCTCATCAATGAAGG	0.343000																								0							SO:0001583	missense			ENST00000400445.3	0	1	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	6.507000	0.461677	0.123420	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.46063	0.89;0.88;0.88;0.89	5.330000	5.330000	0.759180	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.16130	0.375	0.807220	D	1.000000	P;B	0.35612	0.512;0.008	B;B	0.24541	0.054;0.016	T	0.12863	-1.0531	10	0.05959	T	0.93	.	15.308800	0.740140	1.0:0.0:0.0:0.0	.	1964;1961	Q8NFP9;Q5T321	NBEA_HUMAN;.	V	1964;1964;1961;1964;591	ENSP00000440951:I1964V;ENSP00000383295:I1964V;ENSP00000369271:I1961V;ENSP00000308534:I1964V	ENSP00000308534:I1964V	I	+	1	0	NBEA	34781716	1.000000	0.714170	1.000000	0.803570	0.998000	0.957120	8.730000	0.915100	2.029000	0.598560	0.533000	0.621200	ATC		TCGA-IB-7649-01A-11D-2154-08	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	0	5	64	0	12	0	9.181216e-02	0	6	0	12	2		0	0	0	0	0	2	1	0.939947	5	64	0	12	2								-5.048415	1	1	0	0		1	1	2	3	2.020829	0	0.160000	1.970000	0.166667	0.980000	0.380000	1.000000	1.000000	0.856161	0.980000	1	0.620000	1.000000
MYH6	4624	broad.mit.edu	37	14	23870014	23870014	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	ENST00000356287.3	-	12	1343	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_ENST00000405093.3_Missense_Mutation_p.N438K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha			119	all_cancers(95;2.54e-05)				TCACCATCCAGTTGAACATCT	0.562000																								0							SO:0001583	missense			ENST00000356287.3	1	1	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	3.739000	-0.053937	0.073620	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86956	-2.19;-2.19	4.030000	4.030000	0.468770	Myosin head, motor domain (2);	.	.	.	.	T	0.71762	0.3378	N	0.02876	-0.465	0.382240	D	0.940852	B;B	0.30361	0.277;0.277	B;B	0.39339	0.297;0.297	T	0.69702	-0.5074	9	0.02654	T	1	.	12.149600	0.540420	0.0:0.3105:0.6895:0.0	.	438;438	D9YZU2;P13533	.;MYH6_HUMAN	K	438	ENSP00000386041:N438K;ENSP00000348634:N438K	ENSP00000348634:N438K	N	-	3	2	MYH6	22939854	0.001000	0.127200	1.000000	0.803570	0.995000	0.863560	-0.099000	0.110070	1.978000	0.576420	0.580000	0.794310	AAC		TCGA-IB-7649-01A-11D-2154-08	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	1	0	0	35	505	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1.000000	33	488	0	91	2								-20.000000	1	1	0	0		1	1	2	3	2.073408	0	0.160000	1.970000	0.177116	0.860000	0.590000	1.000000	1.000000	0.862035	0.860000	1	0.710000	1.000000
DDHD1	80821	broad.mit.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	ENST00000323669.5	-	4	1257	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N|DDHD1_ENST00000357758.3_Missense_Mutation_p.D420N	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	p.D420H(2)		25	Breast(41;0.037)				CTTCCTTGGTCCATTTTCTGC	0.363000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000323669.5	1	1	hg19	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.160544	0.947270	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.52526	0.66;0.66;0.66	5.580000	5.580000	0.844980	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.76002	2.32	0.807220	D	1.000000	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.99;0.999;0.936	T	0.71206	-0.4661	10	0.52906	T	0.07	-20.9578	19.563000	0.953800	0.0:1.0:0.0:0.0	.	427;420;420	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	N	420;427;420;291	ENSP00000327104:D420N;ENSP00000378970:D427N;ENSP00000350401:D420N	ENSP00000327104:D420N	D	-	1	0	DDHD1	52628284	1.000000	0.714170	1.000000	0.803570	0.994000	0.842990	7.694000	0.842350	2.630000	0.891190	0.561000	0.740990	GAC		TCGA-IB-7649-01A-11D-2154-08	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	1	0	1	83	567	0	83	1	4.229593e-01	2	9	0	83	2		0	0	0	0	0	2	1	1.000000	81	562	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.073408	0	0.160000	1.970000	0.177116	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
C15orf59	388135	broad.mit.edu	37	15	74032751	74032751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	ENST00000569673.1	-	3	1593	c.389C>T	c.(388-390)tCg>tTg	p.S130L	C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59			15					TGGCCGAGTCGACTCGGGACC	0.627000																								0							SO:0001583	missense			ENST00000569673.1	1	1	hg19	CCDS32289.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.372000	1.070796	0.201470	.	.	ENSG00000205363	ENST00000379822	T	0.45276	0.9	4.620000	3.710000	0.425840	.	0.982181	0.08300	N	0.967019	T	0.23171	0.0560	N	0.08118	0	0.265650	N	0.973666	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.28530	T	0.3	.	7.177700	0.257550	0.0896:0.0:0.7437:0.1667	.	130	Q2T9L4	CO059_HUMAN	L	130	ENSP00000369150:S130L	ENSP00000369150:S130L	S	-	2	0	C15orf59	71819804	0.002000	0.142020	0.245000	0.242170	0.633000	0.380330	0.051000	0.141410	1.156000	0.425140	0.561000	0.740990	TCG		TCGA-IB-7649-01A-11D-2154-08	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	1	0	1	89	607	0	129	0	4.234473e-01	0	11	0	129	2		0	0	0	0	0	2	1	1.000000	87	588	0	127	2								-20.000000	1	1	121410	3	37	1	0	1	1	1.924905	0	0.160000	1.970000	0.127907	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	p.P2791L(1)		136			Colorectal(24;0.198)		CCGGGAAGCCCGTCTGTCCGC	0.662000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000262518.4	1	1	hg19	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	1.783000	-0.481343	0.043830	2.28E-4	0.0	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.8;-2.82;-2.81	5.040000	4.070000	0.474770	.	0.266926	0.27122	N	0.020822	T	0.75087	0.3802	N	0.08118	0	0.345130	D	0.707273	P;P	0.39624	0.681;0.553	B;B	0.25140	0.058;0.026	T	0.81141	-0.1068	10	0.59425	D	0.04	-8.0891	8.310800	0.320710	0.1775:0.651:0.1714:0.0	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2791;2729;2633	ENSP00000262518:P2791L;ENSP00000378499:P2729L;ENSP00000343042:P2633L	ENSP00000262518:P2791L	P	+	2	0	SRCAP	30657234	0.061000	0.208360	0.988000	0.462120	0.069000	0.166280	0.750000	0.263340	1.316000	0.451310	0.591000	0.815410	CCG		TCGA-IB-7649-01A-11D-2154-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	0	22	485	0	84	1	5.361589e-01	5	35	0	84	2		0	0	0	0	0	2	1	0.999999	22	477	0	81	2								-2.725519	1	1	121006	11	43	1	1	2	3	2.044983	0	0.160000	1.970000	0.171924	0.570000	0.360000	1.000000	0.540000	0.627650	0.570000	0	0.450000	0.820000
NFAT5	10725	broad.mit.edu	37	16	69689654	69689654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	ENST00000354436.2	+	5	1412	c.1094C>T	c.(1093-1095)aCt>aTt	p.T365I	NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T289I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive			37					ATTGAAGGCACTACTGTTATA	0.423000																								0							SO:0001583	missense			ENST00000354436.2	1	1	hg19	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	31.000000	5.087559	0.941000	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.580000	5.580000	0.844980	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.77103	2.36	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74630	-0.3601	10	0.87932	D	0	-2.7308	19.569600	0.954060	0.0:1.0:0.0:0.0	.	383;365;383;289	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	I	383;383;289;365;289	ENSP00000396538:T383I;ENSP00000338806:T289I;ENSP00000346420:T365I;ENSP00000377343:T289I	ENSP00000338806:T289I	T	+	2	0	NFAT5	68247155	1.000000	0.714170	1.000000	0.803570	0.997000	0.918780	7.768000	0.853450	2.638000	0.894380	0.467000	0.429560	ACT		TCGA-IB-7649-01A-11D-2154-08	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	1	0	0	31	537	0	63	0	1.252076e-01	0	11	0	63	2		0	0	0	0	0	2	1	1.000000	30	530	0	62	2								-6.261738	1	1	0	0		1	0	1	1	1.918769	0	0.160000	1.970000	0.086957	0.620000	0.430000	0.840000	0.620000	0.633127	0.620000	0	0.520000	0.740000
TTC19	54902	broad.mit.edu	37	17	15909860	15909860	+	Silent	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	ENST00000261647.5	+	7	1123	c.654A>G	c.(652-654)gaA>gaG	p.E218E	TTC19_ENST00000486880.2_Silent_p.E339E|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19			5					GAGAAAAGGAATTAGCAGAAG	0.363000																								0							SO:0001819	synonymous_variant			ENST00000261647.5	1	1	hg19	CCDS11174.2																																																																																				TCGA-IB-7649-01A-11D-2154-08	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	1	0	1	69	398	0	73	1	9.963362e-01	4	47	0	73	2		0	0	0	0	0	2	1	1.000000	66	389	0	72	2								-20.000000	1	1	0	0		1	0	1	1	1.923930	0	0.160000	1.970000	0.086957	0.970000	0.890000	1.000000	0.990000	0.975159	0.970000	1	0.940000	1.000000
CACNB1	782	broad.mit.edu	37	17	37334238	37334238	+	Splice_Site	SNP	G	G	T	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	ENST00000394303.3	-	12	1352	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000344140.5_Splice_Site_p.P427H|CACNB1_ENST00000394310.3_Splice_Site_p.P382H	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit			16				Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537000													Esophageal Squamous(5;100 366 38393 41452 45827)											0							SO:0001630	splice_region_variant			ENST00000394303.3	0	1	hg19	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	17.520000	3.409770	0.623990	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83250	-1.7;-1.7;-1.7	5.120000	5.120000	0.697940	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.81239	2.535	0.807220	D	1.000000	D;D;D	0.89917	0.999;0.99;1.0	D;P;D	0.91635	0.953;0.683;0.999	D	0.92338	0.5879	10	0.87932	D	0	-17.0252	17.493000	0.877090	0.0:0.0:1.0:0.0	.	427;382;382	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	H	332;382;427;382;333	ENSP00000377840:P382H;ENSP00000345461:P427H;ENSP00000377847:P382H	ENSP00000345461:P427H	P	-	2	0	CACNB1	34587764	1.000000	0.714170	0.928000	0.369950	0.384000	0.302610	7.501000	0.816000	2.674000	0.910120	0.467000	0.429560	CCT		TCGA-IB-7649-01A-11D-2154-08	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3	0	0	0	62	598	1	100	0	7.497873e-02	1	4	1	100	2		0	0	0	0	0	2	1	0.999999	61	588	1	99	21								-2.920853	1	1	0	0		1	1	2	3	2.052635	0	0.160000	1.970000	0.173228	0.990000	0.930000	1.000000	1.000000	0.996361	0.990000	1	0.990000	1.000000
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T	rs68140816		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGGCAACTGACCGTGCAAGTC	0.532000		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	38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	GRCh37	CS951538	TP53	S		SO:0001630	splice_region_variant	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	.	.	.	.	.	.	.	.	.	.	C	20.600000	4.015182	0.751610	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.300000	4.300000	0.512180	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.658600	0.688520	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.714170	1.000000	0.803570	0.956000	0.617450	6.208000	0.721650	2.403000	0.816810	0.655000	0.942530	.		TCGA-IB-7649-01A-11D-2154-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	65	427	0	96		0	0	0	0	96	2	1	9.994936e-01	11	64	0	80	2	1	1.000000	65	423	0	96	2								-20.000000	1	1	0	0		1	0	1	1	1.914430	0	0.160000	1.970000	0.086957	0.970000	0.870000	1.000000	0.990000	0.968896	0.970000	1	0.930000	1.000000
ZNF653	115950	broad.mit.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653			17					ATGCACAAGATTGACGTGGTT	0.562000													Pancreas(83;980 1446 4542 6441 43352)											0							SO:0001583	missense			ENST00000293771.5	1	1	hg19	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	T	22.900000	4.348165	0.821320	.	.	ENSG00000161914	ENST00000293771	T	0.27557	1.66	5.260000	5.260000	0.737470	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.59436	1.845	0.584320	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.53457	-0.8436	10	0.72032	D	0.01	-65.4624	14.476400	0.675480	0.0:0.0:0.0:1.0	.	489	Q96CK0	ZN653_HUMAN	S	489	ENSP00000293771:N489S	ENSP00000293771:N489S	N	-	2	0	ZNF653	11457575	1.000000	0.714170	1.000000	0.803570	0.946000	0.594870	7.257000	0.783620	2.135000	0.660390	0.459000	0.354650	AAT		TCGA-IB-7649-01A-11D-2154-08	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	1	0	1	63	570	0	94	1	7.467700e-01	5	21	0	94	2		0	0	0	0	0	2	1	1.000000	63	558	0	94	2								-20.000000	1	1	0	0		1	1	2	3	2.034277	0	0.160000	1.970000	0.169304	0.990000	0.980000	1.000000	1.000000	0.998591	0.990000	1	0.990000	1.000000
MIDN	90007	broad.mit.edu	37	19	1257115	1257115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	ENST00000591446.2	+	7	1660	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	MIDN_ENST00000300952.2_Missense_Mutation_p.H417Q|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin			13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			GTCCGTACCACTGGTCACCCA	0.706000																								0							SO:0001583	missense			ENST00000591446.2	1	1	hg19	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	c	10.840000	1.464720	0.263350	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.440000	2.350000	0.291110	.	0.065017	0.64402	U	0.000010	T	0.33673	0.0871	N	0.21448	0.665	0.390960	D	0.961197	B	0.30824	0.296	B	0.31442	0.13	T	0.25222	-1.0138	9	0.40728	T	0.16	-22.3707	7.060100	0.251210	0.0:0.774:0.0:0.226	.	417	Q504T8	MIDN_HUMAN	Q	417	.	ENSP00000300952:H417Q	H	+	3	2	MIDN	1208115	1.000000	0.714170	1.000000	0.803570	0.352000	0.292680	1.267000	0.330500	1.756000	0.519510	0.486000	0.481410	CAC		TCGA-IB-7649-01A-11D-2154-08	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2	1	0	0	20	240	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	0.999995	19	233	0	46	2								-20.000000	1	1	0	0		1	1	2	3	2.034277	0	0.160000	1.970000	0.169304	0.990000	0.620000	1.000000	1.000000	0.924009	0.990000	1	0.790000	1.000000
RPS11	6205	broad.mit.edu	37	19	50000840	50000840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	ENST00000270625.2	+	3	294	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	hsa-mir-150_ENST00000602157.1_5'Flank|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V|RPS11_ENST00000596873.1_Missense_Mutation_p.R71W	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11			7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)			CATTCGAGGGCGGATCCTCTC	0.537000																								0							SO:0001583	missense			ENST00000270625.2	1	1	hg19	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	14.990000	2.701530	0.483070	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.120000	2.890000	0.336480	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.059690	0.64402	N	0.000002	T	0.54498	0.1862	M	0.67517	2.055	0.584320	D	0.999999	B	0.16802	0.019	B	0.08055	0.003	T	0.50725	-0.8794	8	.	.	.	-23.5769	8.288100	0.319410	0.1534:0.7625:0.0:0.0842	.	71	P62280	RS11_HUMAN	W	71	.	.	R	+	1	2	RPS11	54692652	0.995000	0.382120	0.965000	0.407200	0.743000	0.423510	3.032000	0.497360	1.164000	0.426520	0.561000	0.740990	CGG		TCGA-IB-7649-01A-11D-2154-08	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	1	0	0	71	499	1	74	1	1	1079	6701	1	74	227		0	0	0	0	0	2	1	1.000000	71	491	1	73	24								-3.221884	1	1	0	0		1	1	2	3	2.046686	0	0.160000	1.970000	0.173879	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
ZNRF4	148066	broad.mit.edu	37	19	5455852	5455852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:5455852C>T	ENST00000222033.4	+	1	427	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4			16					GCGGATCTGCCGGCGCTGTTC	0.672000																								0							SO:0001583	missense			ENST00000222033.4	1	1	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.800000	2.346448	0.415990	.	.	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.550000	4.550000	0.560140	.	0.000000	0.85682	U	0.000000	T	0.25680	0.0625	M	0.81682	2.555	0.520990	D	0.999943	D	0.89917	1.0	D	0.72625	0.978	T	0.02059	-1.1221	10	0.87932	D	0	.	13.999900	0.644270	0.0:1.0:0.0:0.0	.	117	Q8WWF5	ZNRF4_HUMAN	L	117	ENSP00000222033:P117L	ENSP00000222033:P117L	P	+	2	0	ZNRF4	5406852	0.939000	0.318650	0.297000	0.249880	0.033000	0.125480	4.439000	0.599680	2.082000	0.626650	0.491000	0.489740	CCG		TCGA-IB-7649-01A-11D-2154-08	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	0	0	0	20	562	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	0.999993	20	542	0	79	2								-2.975607	1	1	120894	2	38	1	1	2	3	2.034277	0	0.160000	1.970000	0.169304	0.450000	0.270000	1.000000	0.430000	0.511999	0.450000	0	0.350000	0.620000
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	ENST00000367175.1	-	1	3603	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000496057.1_5'Flank|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2			38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		AGGTGTCAGTCGAAGCCCAGC	0.637000																								0							SO:0001583	missense			ENST00000367175.1	1	1	hg19	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	14.710000	2.616534	0.467360	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.66099	-0.19;-0.19;-0.19	5.530000	5.530000	0.826870	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35805	N	0.002967	T	0.63522	0.2518	L	0.27975	0.815	0.402770	D	0.978359	D	0.76494	0.999	D	0.67103	0.949	T	0.66248	-0.5971	10	0.56958	D	0.05	.	7.625900	0.282120	0.0:0.798:0.0:0.202	.	464	O75325	LRRN2_HUMAN	Q	464	ENSP00000356144:R464Q;ENSP00000356145:R464Q;ENSP00000356143:R464Q	ENSP00000356143:R464Q	R	-	2	0	LRRN2	202854353	0.999000	0.422020	0.996000	0.522420	0.318000	0.281840	1.920000	0.400250	2.604000	0.880440	0.591000	0.815410	CGA		TCGA-IB-7649-01A-11D-2154-08	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	0	25	280	0	59	0	8.714230e-02	0	6	0	59	2		0	0	0	0	0	2	1	1.000000	25	274	0	58	2								-8.904589	1	1	121412	1	30	1	1	2	3	2.054711	0	0.160000	1.970000	0.177116	0.990000	0.710000	1.000000	1.000000	0.959358	0.990000	1	0.880000	1.000000
SGIP1	84251	broad.mit.edu	37	1	67109277	67109277	+	Missense_Mutation	SNP	G	G	A	rs17490057	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:67109277G>A	ENST00000371037.4	+	7	411	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SGIP1_ENST00000371036.3_Missense_Mutation_p.E87K|SGIP1_ENST00000371035.3_Missense_Mutation_p.E69K|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371039.1_Missense_Mutation_p.E88K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E116K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1			71					AGAAGAAGAAGAATCACATAA	0.343000																								0							SO:0001583	missense			ENST00000371037.4	1	0	hg19	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	25.800000	4.671407	0.883480	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03982	3.74;3.74;3.74;3.74;3.74;3.74	5.300000	5.300000	0.749950	.	0.048588	0.85682	D	0.000000	T	0.06188	0.0160	M	0.67397	2.05	0.199450	P	0.999949	P	0.46987	0.888	P	0.44561	0.453	T	0.25398	-1.0133	9	0.44086	T	0.13	-19.0025	19.316800	0.942180	0.0:0.0:1.0:0.0	.	112	Q9BQI5	SGIP1_HUMAN	K	116;88;112;69;115;115;87;112	ENSP00000237247:E116K;ENSP00000360078:E88K;ENSP00000410439:E112K;ENSP00000360074:E69K;ENSP00000360075:E87K;ENSP00000360076:E112K	ENSP00000237247:E116K	E	+	1	0	SGIP1	66881865	1.000000	0.714170	1.000000	0.803570	0.998000	0.957120	9.260000	0.955680	2.631000	0.891680	0.655000	0.942530	GAA		TCGA-IB-7649-01A-11D-2154-08	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	0	0	1	59	396	1	64	0	3.845633e-01	0	10	1	64	2		0	0	0	0	0	2	1	0.999996	57	397	1	64	22								-3.015427	1	1	0	0		1	0	2	2	1.927769	0	0.160000	1.970000	0.160000	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	0.990000	1.000000
CHGB	1114	broad.mit.edu	37	20	5903661	5903661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	ENST00000378961.4	+	4	1075	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)			47					GAGCAGGCCCGACAGGTCCTC	0.582000																								0							SO:0001583	missense			ENST00000378961.4	1	1	hg19	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	12.890000	2.073615	0.365660	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02050	4.48;4.48	5.110000	4.150000	0.487050	.	0.314175	0.28515	N	0.015066	T	0.02156	0.0067	L	0.46741	1.465	0.203070	N	0.999911	P	0.37997	0.614	B	0.34346	0.18	T	0.42816	-0.9429	10	0.12766	T	0.61	-27.4409	7.586000	0.279930	0.0861:0.0:0.7505:0.1634	.	291	P05060	SCG1_HUMAN	N	291;271	ENSP00000368244:D291N;ENSP00000416643:D271N	ENSP00000368244:D291N	D	+	1	0	CHGB	5851661	0.928000	0.314640	0.965000	0.407200	0.653000	0.387430	2.775000	0.477020	1.114000	0.417810	0.563000	0.778840	GAC		TCGA-IB-7649-01A-11D-2154-08	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	1	0	0	11	121	0	30	0	9.999987e-01	0	349	0	30	2		0	0	0	0	0	2	1	0.998296	11	117	0	30	2								-16.414560	1	1	121388	1	20	1	0	0	0	1.938919	0	0.160000	1.970000	0.127907	0.980000	0.530000	1.000000	1.000000	0.897895	0.980000	1	0.730000	1.000000
BIN1	274	broad.mit.edu	37	2	127806138	127806138	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	ENST00000316724.5	-	19	2157	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_ENST00000466111.1_5'Flank|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000351659.3_Silent_p.G495G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000393040.3_Silent_p.G471G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	p.G582G(1)		24	Colorectal(110;0.0831)				CGGGGAAGACGCCACGGCACT	0.622000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000316724.5	1	1	hg19	CCDS2138.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	1	0	1	36	437	0	71	1	9.529596e-01	9	54	0	71	2		0	0	0	0	0	2	1	1.000000	35	426	0	71	2								-9.475977	1	1	0	0		1	0	0	0	1.927603	0	0.160000	1.970000	0.122074	0.900000	0.640000	1.000000	1.000000	0.890803	0.900000	1	0.760000	1.000000
TTN	7273	broad.mit.edu	37	2	179429212	179429212	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:179429212C>T	ENST00000591111.1	-	276	76948	c.76724G>A	c.(76723-76725)cGc>cAc	p.R25575H	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27216H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		TTTCATCCAGCGGCCATCAGG	0.368000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.980000	2.992185	0.540410	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.160000	6.160000	0.993070	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73768	0.3629	M	0.65975	2.015	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73209	-0.4055	9	0.87932	D	0	.	20.859800	0.997610	0.0:1.0:0.0:0.0	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24648;18151;18343;18276;18149	ENSP00000343764:R24648H;ENSP00000434586:R18151H;ENSP00000340554:R18343H;ENSP00000352154:R18276H	ENSP00000340554:R18343H	R	-	2	0	TTN	179137458	1.000000	0.714170	0.995000	0.509660	0.997000	0.918780	7.770000	0.853900	2.937000	0.994780	0.650000	0.862430	CGC		TCGA-IB-7649-01A-11D-2154-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	11	148	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	0.998469	11	147	0	22	2								-5.609446	1	1	120732	5	33	1	0	0	0	1.933094	0	0.160000	1.970000	0.125000	0.820000	0.440000	1.000000	1.000000	0.812194	0.820000	0	0.610000	1.000000
KCNK3	3777	broad.mit.edu	37	2	26951301	26951301	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	ENST00000302909.3	+	2	1175	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3			14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Doxapram(DB00561)|Halothane(DB01159)	CGGGAGGGGGCGGCCGCTACA	0.701000													GBM(80;1457 1631 27100 45946)											0							SO:0001819	synonymous_variant			ENST00000302909.3	0	1	hg19	CCDS1727.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	1	0	0	7	66	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	0.979498	6	64	0	9	2								-13.222780	1	1	0	0		1	0	0	0	1.914777	0	0.160000	1.970000	0.116162	0.990000	0.490000	1.000000	1.000000	0.893676	0.990000	1	0.720000	1.000000
COLEC11	78989	broad.mit.edu	37	2	3691377	3691377	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	ENST00000349077.4	+	7	588	c.485G>A	c.(484-486)cGc>cAc	p.R162H	COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Missense_Mutation_p.R136H	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11			22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)				GAGGAGAAGCGCTACGCGGAC	0.637000																								0							SO:0001583	missense			ENST00000349077.4	1	1	hg19	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	11.920000	1.781246	0.315020	0.0	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.200000	3.380000	0.387090	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.147737	0.56097	D	0.000035	T	0.27313	0.0670	L	0.45352	1.415	0.290460	N	0.884807	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.997;1.0;0.998;1.0;1.0;0.999	P;D;D;P;D;P;D;D;D	0.71184	0.866;0.949;0.972;0.823;0.972;0.828;0.949;0.956;0.92	T	0.06197	-1.0840	10	0.59425	D	0.04	-22.5104	5.761500	0.182030	0.1596:0.0:0.6835:0.157	.	88;112;112;136;114;138;138;162;159	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	H	138;159;162;176;136;112;88;112	ENSP00000371494:R138H;ENSP00000236693:R159H;ENSP00000339168:R162H;ENSP00000411770:R176H;ENSP00000385130:R136H;ENSP00000384882:R112H;ENSP00000385827:R88H;ENSP00000385653:R112H	ENSP00000236693:R159H	R	+	2	0	COLEC11	3669252	0.999000	0.422020	0.087000	0.207050	0.002000	0.026280	3.349000	0.522170	0.564000	0.292380	-0.518000	0.044020	CGC		TCGA-IB-7649-01A-11D-2154-08	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	1	0	1	39	352	0	50	0	9.761639e-01	0	56	0	50	2		0	0	0	0	0	2	1	1.000000	38	346	0	50	2								-3.142702	1	1	121398	2	34	1	0	0	0	1.914777	0	0.160000	1.970000	0.116162	0.990000	0.840000	1.000000	1.000000	0.986899	0.990000	1	0.990000	1.000000
PIK3R4	30849	broad.mit.edu	37	3	130452457	130452457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	ENST00000356763.3	-	4	1942	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4			77					TGGCAGAATGTATTCCGGATA	0.438000																								0							SO:0001583	missense			ENST00000356763.3	1	1	hg19	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	29.900000	5.042519	0.936850	.	.	ENSG00000196455	ENST00000356763	T	0.48836	0.8	6.070000	6.070000	0.986850	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.78456	2.415	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	T	0.72564	-0.4255	10	0.54805	T	0.06	-22.6507	16.628800	0.850110	0.0:0.0:0.0:1.0	.	462	Q99570	PI3R4_HUMAN	F	462	ENSP00000349205:Y462F	ENSP00000349205:Y462F	Y	-	2	0	PIK3R4	131935147	1.000000	0.714170	0.975000	0.424870	0.961000	0.630800	8.040000	0.891880	2.326000	0.789060	0.533000	0.621200	TAC		TCGA-IB-7649-01A-11D-2154-08	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	1	0	1	73	494	0	85	0	3.791292e-01	1	9	0	85	2		0	0	0	0	0	2	1	1.000000	73	490	0	84	2								-20.000000	1	1	0	0		1	1	2	3	2.038215	0	0.160000	1.970000	0.186677	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	p.R1021Q(1)		116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		GCTGATAATCCGCCCCCTTCC	0.473000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000282466.3	1	1	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.840000	2.358254	0.418010	2.27E-4	1.16E-4	ENSG00000152580	ENST00000282466	T	0.75704	-0.96	5.460000	3.600000	0.412470	.	0.000000	0.42821	D	0.000651	T	0.56558	0.1993	L	0.36672	1.1	0.093100	N	1.000000	P	0.41159	0.74	B	0.26969	0.075	T	0.53063	-0.8491	10	0.66056	D	0.02	.	8.883200	0.353870	0.0:0.7369:0.1239:0.1392	rs35114212	1021	Q6WRI0	IGS10_HUMAN	Q	1021	ENSP00000282466:R1021Q	ENSP00000282466:R1021Q	R	-	2	0	IGSF10	152647397	0.822000	0.292190	0.014000	0.156080	0.012000	0.079550	2.017000	0.409810	0.623000	0.302670	0.591000	0.815410	CGG		TCGA-IB-7649-01A-11D-2154-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	0	39	546	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	39	534	0	76	2								-2.665581	1	1	121412	4	40	1	1	2	3	2.038215	0	0.160000	1.970000	0.186677	0.910000	0.630000	1.000000	1.000000	0.892483	0.910000	1	0.750000	1.000000
BCHE	590	broad.mit.edu	37	3	165548002	165548002	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	ENST00000264381.3	-	2	986	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase			55				Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388000																								0							SO:0001583	missense			ENST00000264381.3	1	1	hg19	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.722000	0.914687	0.179070	.	.	ENSG00000114200	ENST00000264381	T	0.71341	-0.56	5.620000	3.230000	0.370690	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.78104	0.4231	M	0.68317	2.08	0.807220	D	1.000000	P	0.40211	0.707	P	0.55785	0.784	T	0.76774	-0.2835	10	0.87932	D	0	.	9.219400	0.373660	0.8528:0.0:0.1472:0.0	.	274	P06276	CHLE_HUMAN	V	274	ENSP00000264381:L274V	ENSP00000264381:L274V	L	-	1	2	BCHE	167030696	0.408000	0.253600	0.251000	0.243120	0.017000	0.094130	1.019000	0.300140	0.419000	0.259270	0.533000	0.621200	TTA		TCGA-IB-7649-01A-11D-2154-08	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	1	0	1	89	612	0	84	0	2.232164e-01	0	7	0	84	2		0	0	0	0	0	2	1	1.000000	89	604	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.038215	0	0.160000	1.970000	0.186677	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SHQ1	55164	broad.mit.edu	37	3	72893552	72893552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	ENST00000325599.8	-	2	305	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	p.V56L(1)		27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)			CCATTTTCTACAATTCTTCCA	0.333000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000325599.8	1	1	hg19	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	14.580000	2.576734	0.459020	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.35605	1.57;1.3	5.950000	3.110000	0.358120	CS-like domain (1);HSP20-like chaperone (1);	0.249859	0.39615	N	0.001319	T	0.24967	0.0606	L	0.52266	1.64	0.379460	D	0.932497	P	0.39391	0.671	B	0.32393	0.145	T	0.10520	-1.0626	10	0.34782	T	0.22	-8.7063	6.231100	0.207360	0.1324:0.6529:0.0:0.2147	.	56	Q6PI26	SHQ1_HUMAN	I	56;28	ENSP00000315182:V56I;ENSP00000417452:V28I	ENSP00000315182:V56I	V	-	1	0	SHQ1	72976242	1.000000	0.714170	0.994000	0.499520	0.729000	0.417350	1.181000	0.320170	0.849000	0.352150	0.655000	0.942530	GTA		TCGA-IB-7649-01A-11D-2154-08	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	1	0	0	20	285	0	38	0	1.243752e-01	1	8	0	38	2		0	0	0	0	0	2	1	0.999996	20	283	0	38	2								-3.221845	1	1	0	0		1	1	2	3	2.038215	0	0.160000	1.970000	0.186677	0.920000	0.550000	1.000000	1.000000	0.879313	0.920000	1	0.710000	1.000000
FAT4	79633	broad.mit.edu	37	4	126412333	126412333	+	Missense_Mutation	SNP	G	G	A	rs138173652		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	ENST00000394329.3	+	17	14369	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4			355					TCCTCCAGTCGGACTTTCTAT	0.527000																								0							SO:0001583	missense			ENST00000394329.3	1	1	hg19	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.720000	2.620909	0.467360	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.89746	-2.36;-2.56	4.870000	4.870000	0.633300	.	0.000000	0.33959	U	0.004384	D	0.94125	0.8116	M	0.75777	2.31	0.807220	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94900	0.8055	10	0.87932	D	0	.	17.028400	0.864540	0.0:0.0:1.0:0.0	.	3027;4786;4785	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	4786;3027	ENSP00000377862:G4786R;ENSP00000335169:G3027R	ENSP00000335169:G3027R	G	+	1	0	FAT4	126631783	1.000000	0.714170	0.095000	0.209760	0.024000	0.109850	9.135000	0.944780	2.253000	0.744380	0.491000	0.489740	GGA		TCGA-IB-7649-01A-11D-2154-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	1	0	0	44	453	0	54	0	1.920816e-01	0	9	0	54	2		0	0	0	0	0	2	1	1.000000	43	448	0	52	2								-2.920853	1	1	121412	11	43	1	1	2	3	2.051849	0	0.160000	1.970000	0.175824	0.990000	0.840000	1.000000	1.000000	0.986850	0.990000	1	0.990000	1.000000
PCDHGA2	56113	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	p.T628T(2)		77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGGTGCGCACGGCGCGAGCCC	0.682000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000394576.2	1	1	hg19	CCDS47289.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	0	0	25	575	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	0.999998	20	471	0	126	2								-3.296154	1	1	0	0		1	1	2	3	2.039295	0	0.160000	1.970000	0.177116	0.560000	0.360000	1.000000	0.520000	0.630359	0.560000	0	0.450000	1.000000
HIST1H2BJ	8970	broad.mit.edu	37	6	27100336	27100336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	ENST00000607124.1	-	1	193	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj			10					GTTCACAAACGAATTCATGAT	0.562000																								0							SO:0001583	missense			ENST00000607124.1	1	1	hg19	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	17.070000	3.294289	0.600860	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70986	-0.53;-0.53	4.170000	4.170000	0.490240	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85535	0.5719	M	0.93197	3.39	0.530050	D	0.999962	D	0.89917	1.0	D	0.78314	0.991	D	0.89287	0.3616	9	0.87932	D	0	.	14.804600	0.699420	0.0:0.0:1.0:0.0	.	65	P06899	H2B1J_HUMAN	L	65	ENSP00000445633:S65L;ENSP00000342886:S65L	ENSP00000342886:S65L	S	-	2	0	HIST1H2BJ	27208315	1.000000	0.714170	1.000000	0.803570	0.089000	0.181980	5.831000	0.693300	2.273000	0.758050	0.591000	0.815410	TCG		TCGA-IB-7649-01A-11D-2154-08	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	1	0	0	67	1111	0	182	0	0	0	1	0	182	2		0	0	0	0	0	2	1	1.000000	67	1100	0	181	2								-8.511138	1	1	0	0		1	1	2	3	2.021212	0	0.160000	1.970000	0.168646	0.720000	0.560000	1.000000	0.720000	0.753428	0.720000	0	0.640000	0.860000
HTR1B	3351	broad.mit.edu	37	6	78172557	78172557	+	Silent	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:78172557A>C	ENST00000369947.2	-	1	933	c.564T>G	c.(562-564)cgT>cgG	p.R188R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled			25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTTAGCCTGACGCCAGAAGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000369947.2	0	1	hg19	CCDS4986.1																																																																																				TCGA-IB-7649-01A-11D-2154-08	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	1	0	0	22	460	0	71	0	8.051690e-02	0	10	0	71	2		0	0	0	0	0	2	1	0.999999	22	449	0	70	2								-19.997290	1	1	0	0		1	1	2	3	2.025882	0	0.160000	1.970000	0.190439	0.650000	0.390000	1.000000	0.580000	0.704789	0.650000	0	0.500000	1.000000
WDR91	29062	broad.mit.edu	37	7	134879811	134879811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:134879811C>T	ENST00000354475.4	-	9	1301	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T|WDR91_ENST00000344400.5_Missense_Mutation_p.A424T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91			40					TCTAAGCTGGCGACTCTCCTC	0.527000																								0							SO:0001583	missense			ENST00000354475.4	0	1	hg19	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	29.400000	5.005501	0.932870	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.38240	1.15;4.49;4.49	5.280000	5.280000	0.743790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.86953	2.85	0.807220	D	1.000000	D	0.89917	1.0	D	0.74023	0.982	T	0.72766	-0.4194	10	0.66056	D	0.02	-21.2761	18.511700	0.909180	0.0:1.0:0.0:0.0	.	424	A4D1P6	WDR91_HUMAN	T	424;424;389	ENSP00000340877:A424T;ENSP00000346466:A424T;ENSP00000392555:A389T	ENSP00000340877:A424T	A	-	1	0	WDR91	134530351	1.000000	0.714170	1.000000	0.803570	0.972000	0.667710	5.737000	0.686060	2.470000	0.834450	0.555000	0.697020	GCC		TCGA-IB-7649-01A-11D-2154-08	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	0	0	0	7	155	0	28	0	1.518870e-01	0	14	0	28	2		0	0	0	0	0	2	1	0.980479	7	153	0	28	2								-9.623020	1	0	0	0		1	1	2	3	2.035648	0	0.160000	1.970000	0.169960	0.600000	0.260000	1.000000	1.000000	0.642095	0.600000	0	0.400000	0.980000
CYP7A1	1581	broad.mit.edu	37	8	59404129	59404129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	ENST00000301645.3	-	6	1557	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1			34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)			GGACATTTAGCTTGGCCCTCT	0.388000									Neonatal Giant Cell Hepatitis															0							SO:0001583	missense	Familial Cancer Database	Neonatal Hemochromatosis	ENST00000301645.3	1	1	hg19	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	3.564000	-0.089000	0.070970	.	.	ENSG00000167910	ENST00000301645	T	0.68903	-0.36	5.870000	2.840000	0.331780	.	0.680316	0.16054	N	0.231815	T	0.44993	0.1320	N	0.20574	0.59	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.29301	T	0.29	-4.2366	4.417400	0.114630	0.1293:0.6122:0.1248:0.1336	.	474	P22680	CP7A1_HUMAN	P	474	ENSP00000301645:A474P	ENSP00000301645:A474P	A	-	1	0	CYP7A1	59566683	0.028000	0.193010	0.004000	0.123270	0.042000	0.138120	1.296000	0.333890	0.877000	0.358950	0.655000	0.942530	GCT		TCGA-IB-7649-01A-11D-2154-08	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	1	0	0	42	401	0	52	0	9.447907e-03	0	2	0	52	2		0	0	0	0	0	2	1	1.000000	40	396	0	51	2								-20.000000	1	1	0	0		1	1	2	3	2.097770	0	0.160000	1.970000	0.182243	0.990000	0.910000	1.000000	1.000000	0.994819	0.990000	1	0.990000	1.000000
SDCBP	6386	broad.mit.edu	37	8	59490601	59490601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	ENST00000260130.4	+	6	562	c.412G>T	c.(412-414)Gtt>Ttt	p.V138F	SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000523483.1_Missense_Mutation_p.V158F	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)			8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)			GGGTATATTTGTTCAGCTAGT	0.378000																								0							SO:0001583	missense			ENST00000260130.4	1	1	hg19	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	G	23.600000	4.433603	0.837760	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000447267	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;0.27;0.74	5.660000	4.790000	0.613990	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.97340	3.985	0.807220	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.995	D	0.95466	0.8547	9	.	.	.	-24.174	14.886300	0.705720	0.069:0.0:0.931:0.0	.	158;132;138	G5EA09;O00560-3;O00560	.;.;SDCB1_HUMAN	F	138;137;137;138;132;158;84	ENSP00000260130:V138F;ENSP00000391687:V137F;ENSP00000409288:V137F;ENSP00000411771:V138F;ENSP00000395351:V132F;ENSP00000428184:V158F;ENSP00000397820:V84F	.	V	+	1	0	SDCBP	59653155	1.000000	0.714170	1.000000	0.803570	0.997000	0.918780	5.627000	0.677840	1.535000	0.492200	0.655000	0.942530	GTT		TCGA-IB-7649-01A-11D-2154-08	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	1	0	1	41	380	0	62	1	1	46	415	0	62	2		0	0	0	0	0	2	1	1.000000	41	377	0	62	2								-20.000000	1	1	0	0		1	1	2	3	2.097770	0	0.160000	1.970000	0.182243	0.990000	0.930000	1.000000	1.000000	0.996214	0.990000	1	0.990000	1.000000
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10			48					CTTCAAACGCCGAGAGAAGTG	0.597000													Melanoma(171;120 2705 19495 39241)											0							SO:0001587	stop_gained			ENST00000377604.3	0	1	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	40.000000	8.367802	0.987790	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.160000	5.160000	0.708800	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0	10.538100	0.450160	0.1929:0.8071:0.0:0.0	.	.	.	.	X	230;153;153	.	ENSP00000328848:R153X	R	+	1	2	RBM10	46923470	1.000000	0.714170	0.999000	0.593770	0.934000	0.572940	2.893000	0.486330	2.286000	0.767510	0.436000	0.287060	CGA		TCGA-IB-7649-01A-11D-2154-08	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	1	0	0	12	127	0	18	0	8.447513e-01	0	38	0	18	2	1	1	64	580	0	798	2	1	0.999067	11	123	0	18	2								-3.318873	1	1	0	0		1	0	1	1			0.160000	1.970000	0.160000	0.990000	0.600000	1.000000	1.000000	0.934336	0.990000	1	0.810000	1.000000
NLGN4X	57502	broad.mit.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked			81					GTTTTCCGCCGCGTCTCCGGG	0.602000																								0							SO:0001583	missense			ENST00000381095.3	1	1	hg19	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	8.908000	0.958125	0.185070	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	3.930000	3.050000	0.352030	Carboxylesterase, type B (1);	.	.	.	.	T	0.71813	0.3384	M	0.70275	2.135	0.351920	D	0.773473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.998	T	0.76849	-0.2807	8	.	.	.	.	11.051100	0.478890	0.0:0.0:0.6677:0.3323	.	493;436;456	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	436;456;436;436;436	ENSP00000370485:R436W;ENSP00000370483:R456W;ENSP00000275857:R436W;ENSP00000370482:R436W;ENSP00000439203:R436W	.	R	-	1	2	NLGN4X	5831413	0.988000	0.358960	0.002000	0.105220	0.003000	0.035180	2.082000	0.416050	0.507000	0.281480	-0.222000	0.124520	CGG		TCGA-IB-7649-01A-11D-2154-08	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	1	0	0	27	307	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1.000000	26	291	0	62	2								-20.000000	1	1	121292	1	20	1	0	1	1			0.160000	1.970000	0.160000	0.990000	0.680000	1.000000	1.000000	0.938944	0.990000	1	0.830000	1.000000
ZC3H12B	340554	broad.mit.edu	37	X	64719038	64719038	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	ENST00000338957.4	+	3	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B			29					AACTACCGAGACCTTCAAGTT	0.433000																								0							SO:0001583	missense			ENST00000338957.4	1	1	hg19	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	21.400000	4.147401	0.778880	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.60171	0.21;0.21	5.190000	5.190000	0.717260	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	H	0.96398	3.815	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	D	0.87653	0.2529	10	0.72032	D	0.01	-0.502	12.917500	0.582140	1.0:0.0:0.0:0.0	.	292	Q5HYM0	ZC12B_HUMAN	V	303;292;239	ENSP00000340839:D303V;ENSP00000408077:D292V	ENSP00000218172:D239V	D	+	2	0	ZC3H12B	64635763	1.000000	0.714170	1.000000	0.803570	0.994000	0.842990	9.237000	0.953680	1.731000	0.515920	0.417000	0.279730	GAC		TCGA-IB-7649-01A-11D-2154-08	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	0	0	0	50	542	0	74	0	6.219352e-02	0	5	0	74	2		0	0	0	0	0	2	1	1.000000	50	534	0	74	2								-13.316650	1	1	0	0		1	0	1	1			0.160000	1.970000	0.160000	0.990000	0.790000	1.000000	1.000000	0.970509	0.990000	1	0.910000	1.000000
NLGN3	54413	broad.mit.edu	37	X	70367880	70367880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	ENST00000358741.3	+	2	584	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L|NLGN3_ENST00000374051.3_Missense_Mutation_p.S94L	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3			37	Renal(35;0.156)				CCATCCTGGTCGGGCATCCGG	0.632000													Esophageal Squamous(103;760 1488 16849 22250 40351)											0							SO:0001583	missense			ENST00000358741.3	1	1	hg19	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	14.690000	2.609855	0.465270	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.410000	4.410000	0.532250	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.70108	2.13	0.517670	D	0.999932	P;P;P	0.49358	0.546;0.923;0.756	B;B;B	0.40066	0.159;0.318;0.216	T	0.68720	-0.5334	10	0.66056	D	0.02	.	16.416900	0.837450	0.0:1.0:0.0:0.0	.	94;94;94	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	L	94	ENSP00000445298:S94L;ENSP00000363163:S94L;ENSP00000379196:S94L;ENSP00000351591:S94L	ENSP00000351591:S94L	S	+	2	0	NLGN3	70284605	1.000000	0.714170	0.995000	0.509660	0.997000	0.918780	7.320000	0.790640	2.044000	0.605940	0.436000	0.287060	TCG		TCGA-IB-7649-01A-11D-2154-08	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	1	0	0	28	310	0	53	0	7.503881e-03	0	2	0	53	2		0	0	0	0	0	2	1	1.000000	27	303	0	51	2								-20.000000	1	1	0	0		1	0	1	1			0.160000	1.970000	0.160000	0.990000	0.700000	1.000000	1.000000	0.949278	0.990000	1	0.850000	1.000000