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
NRAP	4892	broad.mit.edu	37	10	115374632	115374632	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:115374632T>A	ENST00000359988.3	-	28	3396	c.3152A>T	c.(3151-3153)cAa>cTa	p.Q1051L	NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L|NRAP_ENST00000369358.4_Missense_Mutation_p.Q1059L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein			95		Colorectal(252;0.0233)|Breast(234;0.188)			CTTTGCTGCTTGGAATGGAAG	0.468000																								0							SO:0001583	missense			ENST00000359988.3	0	1	hg19	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582432	0.65992	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.66	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53249	1.67	0.42674	D	0.993527	D;D;P	0.89917	1.0;1.0;0.743	D;D;P	0.91635	0.999;0.999;0.798	T	0.54984	-0.8211	10	0.40728	T	0.16	.	11.6035	0.51017	0.0:0.0697:0.0:0.9303	.	1051;1016;1051	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	L	1059;1024;1051;1016	ENSP00000358365:Q1059L;ENSP00000358367:Q1024L;ENSP00000353078:Q1051L;ENSP00000353666:Q1016L	ENSP00000353078:Q1051L	Q	-	2	0	NRAP	115364622	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.562000	0.60816	0.972000	0.38314	0.533000	0.62120	CAA		TCGA-US-A774-01A-21D-A32N-08	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	0	0	0	8	279	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.989183	8	276	0	44	2		0	0	0	0	44	2	-8.941687	1	1	0	0		1	0	0	0	1.941532	0	0.100000	2	0.067358	0.540000	0.260000	0.950000	0.510000	0.569605	0.540000	0	3.800000e-01	7.500000e-01
DHX32	55760	broad.mit.edu	37	10	127540897	127540897	+	Missense_Mutation	SNP	G	G	A	rs143704757		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:127540897G>A	ENST00000284690.3	-	6	1806	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	DHX32_ENST00000368721.1_Missense_Mutation_p.A63V|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.A358V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32			29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)			GCCTAGGCCCGCAATGTCTAT	0.498000																								0							SO:0001583	missense			ENST00000284690.3	0	1	hg19	CCDS7652.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067881	0.93950	0.0	4.65E-4	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.18016	2.24;3.99;3.72	5.72	5.72	0.89469	.	0.056069	0.64402	D	0.000001	T	0.39517	0.1081	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.939;0.996	T	0.06162	-1.0842	10	0.87932	D	0	-28.254	18.885	0.92372	0.0:0.0:1.0:0.0	.	358;439	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	V	63;439;358	ENSP00000357710:A63V;ENSP00000284690:A439V;ENSP00000284688:A358V	ENSP00000284688:A358V	A	-	2	0	DHX32	127530887	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	7.429000	0.80309	2.691000	0.91804	0.655000	0.94253	GCG		TCGA-US-A774-01A-21D-A32N-08	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050945.2	0	0	0	5	228	0	49	0	4.789757e-01	0	66	0	49	2		0	0	0	0	0	2	1	0.936793	5	226	0	47	2		0	0	0	0	49	2	-2.966195	1	1	121410	55	48	1	0	0	0	1.941532	0	0.100000	2	0.067358	0.430000	0.160000	0.840000	0.390000	0.462546	0.430000	0	2.700000e-01	6.400000e-01
DCLRE1C	64421	broad.mit.edu	37	10	14976718	14976718	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:14976718T>C	ENST00000378278.2	-	7	558	c.521A>G	c.(520-522)tAc>tGc	p.Y174C	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C			17					TGGAATTTGGTAAAATCTTGG	0.398000								Non-homologous end-joining																0							SO:0001583	missense			ENST00000378278.2	1	1	hg19	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328605	0.60743	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843;ENST00000378241	T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.23;-0.76;-0.77;-0.77;-0.77;-0.76;-0.76;-0.76;-1.34;-0.76;-1.37;-0.76	4.85	3.7	0.42460	Beta-lactamase-like (1);	0.055752	0.85682	D	0.000000	D	0.85600	0.5734	M	0.64997	1.995	0.48830	D	0.999716	P;D;P	0.69078	0.893;0.997;0.937	P;D;P	0.63033	0.753;0.91;0.762	D	0.85634	0.1272	10	0.72032	D	0.01	.	11.1815	0.48631	0.1379:0.0:0.0:0.8621	.	174;59;174	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	C	174;54;59;59;59;54;54;54;174;54;28;54	ENSP00000367538:Y174C;ENSP00000400529:Y54C;ENSP00000367492:Y59C;ENSP00000350349:Y59C;ENSP00000367496:Y59C;ENSP00000380030:Y54C;ENSP00000367503:Y54C;ENSP00000367502:Y54C;ENSP00000367527:Y174C;ENSP00000367506:Y54C;ENSP00000391428:Y28C;ENSP00000367487:Y54C	ENSP00000350349:Y59C	Y	-	2	0	DCLRE1C	15016724	1.000000	0.71417	0.989000	0.46669	0.750000	0.42670	4.892000	0.63193	0.785000	0.33685	-0.309000	0.09137	TAC		TCGA-US-A774-01A-21D-A32N-08	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	1	0	0	40	675	0	121	1	1.687906e-01	4	9	0	121	2		0	0	0	0	0	2	1	1.000000	40	663	0	117	2		0	0	0	0	121	2	-20.000000	1	1	0	0		1	0	0	0	1.941532	0	0.100000	2	0.067358	0.990000	0.770000	1.000000	1.000000	0.966302	0.990000	1	9.000000e-01	1
GPR158	57512	broad.mit.edu	37	10	25510077	25510077	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:25510077C>A	ENST00000376351.3	+	2	1358	c.999C>A	c.(997-999)aaC>aaA	p.N333K		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158			119					GCCACCTCAACAATTCAGAGG	0.363000																								0							SO:0001583	missense			ENST00000376351.3	1	1	hg19	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842654	0.51057	.	.	ENSG00000151025	ENST00000376351	T	0.59906	0.23	5.37	3.51	0.40186	.	0.157867	0.42053	D	0.000778	T	0.66877	0.2834	L	0.49640	1.575	0.39032	D	0.959954	D	0.67145	0.996	D	0.65684	0.937	T	0.65845	-0.6069	10	0.46703	T	0.11	.	11.8361	0.52325	0.0:0.7809:0.0:0.2191	.	333	Q5T848	GP158_HUMAN	K	333	ENSP00000365529:N333K	ENSP00000365529:N333K	N	+	3	2	GPR158	25550083	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.005000	0.29834	0.266000	0.21894	-1.119000	0.02030	AAC		TCGA-US-A774-01A-21D-A32N-08	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	1	0	0	13	220	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	0.999498	13	214	0	38	2		0	0	0	0	38	2	-16.020890	1	1	0	0		1	0	0	0	1.941532	0	0.100000	2	0.067358	0.980000	0.580000	1.000000	1.000000	0.911967	0.980000	1	7.700000e-01	1
RBP3	5949	broad.mit.edu	37	10	48387849	48387849	+	Missense_Mutation	SNP	C	C	T	rs149031179		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr10:48387849C>T	ENST00000224600.4	-	1	3142	c.3029G>A	c.(3028-3030)cGc>cAc	p.R1010H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	p.R1010H(1)		59				Vitamin A(DB00162)	TCCAGGAATGCGGTCCTTGGC	0.597000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000224600.4	0	1	hg19	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850487	0.32699	.	.	ENSG00000107618	ENST00000224600	T	0.64260	-0.09	5.28	3.4	0.38934	.	0.253639	0.45867	N	0.000323	T	0.55909	0.1950	L	0.59436	1.845	0.29650	N	0.844067	B	0.13145	0.007	B	0.08055	0.003	T	0.53753	-0.8394	10	0.42905	T	0.14	-8.7331	10.976	0.47467	0.0:0.8467:0.0:0.1533	.	1010	P10745	RET3_HUMAN	H	1010	ENSP00000224600:R1010H	ENSP00000224600:R1010H	R	-	2	0	RBP3	48007855	0.997000	0.39634	0.992000	0.48379	0.990000	0.78478	0.507000	0.22675	0.593000	0.29745	0.655000	0.94253	CGC		TCGA-US-A774-01A-21D-A32N-08	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	0	0	0	6	663	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	0.963421	6	654	0	102	2		0	0	0	0	102	2	-1.834889	0	1	121412	2	39	1	0	0	0	1.941532	0	0.100000	2	0.067358	0.180000	0.070000	0.350000	0.170000	0.197180	0.180000	0	1.100000e-01	2.700000e-01
TTC17	55761	broad.mit.edu	37	11	43429013	43429013	+	Silent	SNP	A	A	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:43429013A>T	ENST00000039989.4	+	15	1964	c.1950A>T	c.(1948-1950)ccA>ccT	p.P650P	TTC17_ENST00000299240.6_Silent_p.P650P|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17			53					ATTTAGCTCCACTTCAATACC	0.438000																								0							SO:0001819	synonymous_variant			ENST00000039989.4	1	1	hg19	CCDS31466.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	1	0	1	15	227	0	32	1	9.281515e-01	12	59	0	32	2		0	0	0	0	0	2	1	0.999867	15	223	0	32	2		0	0	0	0	32	2	-18.576330	1	1	0	0		1	1	2	3	2.025367	0	0.100000	2	0.111111	0.990000	0.760000	1.000000	1.000000	0.980553	0.990000	1	9.900000e-01	1
OR5D14	219436	broad.mit.edu	37	11	55563840	55563840	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:55563840G>A	ENST00000335605.1	+	1	809	c.809G>A	c.(808-810)cGg>cAg	p.R270Q		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14			48		all_epithelial(135;0.196)			AAAAACTCTCGGCAAACAGTC	0.478000																								0							SO:0001583	missense			ENST00000335605.1	0	1	hg19	CCDS31508.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	6.790	0.514742	0.12944	.	.	ENSG00000186113	ENST00000335605	T	0.00107	8.72	5.08	-1.69	0.08186	GPCR, rhodopsin-like superfamily (1);	0.373489	0.18403	N	0.142284	T	0.00073	0.0002	N	0.04063	-0.285	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25847	-1.0120	10	0.59425	D	0.04	-0.0228	5.3998	0.16288	0.3914:0.0:0.4431:0.1655	.	270	Q8NGL3	OR5DE_HUMAN	Q	270	ENSP00000334456:R270Q	ENSP00000334456:R270Q	R	+	2	0	OR5D14	55320416	0.000000	0.05858	0.000000	0.03702	0.593000	0.36681	-2.267000	0.01170	-0.577000	0.05967	-0.829000	0.03081	CGG		TCGA-US-A774-01A-21D-A32N-08	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	0	0	0	4	266	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.885731	4	261	0	45	2		0	0	0	0	45	2	-2.917380	1	1	121404	2	44	1	1	2	3	2.025367	0	0.100000	2	0.111111	0.370000	0.110000	1.000000	0.290000	0.475706	0.370000	0	2.100000e-01	1
DRAP1	10589	broad.mit.edu	37	11	65687891	65687891	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:65687891A>G	ENST00000312515.2	+	4	532	c.287A>G	c.(286-288)gAc>gGc	p.D96G	C11orf68_ENST00000530188.1_5'Flank|DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G|C11orf68_ENST00000438576.2_5'Flank|DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G|C11orf68_ENST00000449692.3_5'Flank|DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)			5					ATGCAGGGGGACGGGGAAGAC	0.637000																								0							SO:0001583	missense			ENST00000312515.2	0	1	hg19	CCDS8123.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831383	0.50845	.	.	ENSG00000175550	ENST00000312515;ENST00000525501;ENST00000376991;ENST00000527119;ENST00000532933	.	.	.	4.33	4.33	0.51752	Histone-fold (1);	0.062082	0.64402	D	0.000008	T	0.48786	0.1519	L	0.48642	1.525	0.58432	D	0.999999	B	0.34015	0.435	B	0.32393	0.145	T	0.51332	-0.8719	9	0.44086	T	0.13	-6.8611	11.7748	0.51979	1.0:0.0:0.0:0.0	.	96	Q14919	NC2A_HUMAN	G	96;57;96;52;76	.	ENSP00000307850:D96G	D	+	2	0	DRAP1	65444467	1.000000	0.71417	0.926000	0.36857	0.587000	0.36485	8.228000	0.89789	1.744000	0.51775	0.533000	0.62120	GAC		TCGA-US-A774-01A-21D-A32N-08	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391197.2	0	0	0	6	683	0	131	0	9.116880e-01	1	494	0	131	2		0	0	0	0	0	2	1	0.962619	6	668	0	128	2		0	0	0	0	131	2	-2.433144	0	1	0	0		1	1	2	3	2.021243	0	0.100000	2	0.110232	0.200000	0.070000	1.000000	0.180000	0.337206	0.200000	0	1.300000e-01	1
RBMXL2	27288	broad.mit.edu	37	11	7111053	7111053	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:7111053G>A	ENST00000306904.5	+	1	889	c.702G>A	c.(700-702)tcG>tcA	p.S234S		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2			15					TTGCCCCCTCGCCCGGAGAGT	0.687000																								0							SO:0001819	synonymous_variant			ENST00000306904.5	0	1	hg19	CCDS7777.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	0	0	0	12	164	0	25	0	0	1	0	0	25	2		0	0	0	0	0	2	1	0.999134	11	162	0	25	2		0	0	0	0	25	2	-16.904900	1	1	0	0		1	1	2	3	2.025367	0	0.100000	2	0.111111	0.990000	0.780000	1.000000	1.000000	0.985356	0.990000	1	9.900000e-01	1
PANX1	24145	broad.mit.edu	37	11	93913034	93913034	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr11:93913034G>A	ENST00000227638.3	+	4	1197	c.812G>A	c.(811-813)gGc>gAc	p.G271D	PANX1_ENST00000436171.2_Missense_Mutation_p.G271D	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1			20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		Probenecid(DB01032)	ATTGCCGTGGGCATCTTCCAG	0.502000																								0							SO:0001583	missense			ENST00000227638.3	0	1	hg19	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102161	0.76983	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.19669	2.13;2.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.52273	0.1724	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.49341	-0.8950	10	0.52906	T	0.07	-36.6712	19.9882	0.97356	0.0:0.0:1.0:0.0	.	271;271	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	D	271	ENSP00000227638:G271D;ENSP00000411461:G271D	ENSP00000227638:G271D	G	+	2	0	PANX1	93552682	1.000000	0.71417	0.906000	0.35671	0.256000	0.26092	7.453000	0.80700	2.824000	0.97209	0.655000	0.94253	GGC		TCGA-US-A774-01A-21D-A32N-08	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	0	0	0	6	779	0	142	0	1.605851e-01	0	79	0	142	2		0	0	0	0	0	2	1	0.963198	6	766	0	142	2		0	0	0	0	142	2	-2.209557	0	1	0	0		1	1	2	3	2.021243	0	0.100000	2	0.110232	0.180000	0.060000	1.000000	0.160000	0.316886	0.180000	0	1.100000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-US-A774-01A-21D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	5	96	0	15	1	5.997426e-01	6	31	0	15	2	1	9.979955e-01	17	255	0	322	2	1	0.937533	5	95	0	15	2	1	1	322	7702	0	15	2	-4.379355	1	1	121404	2	44	1	1	2	3	2.068484	0	0.100000	2	0.120664	0.990000	0.440000	1.000000	1.000000	0.911241	0.990000	1	7.400000e-01	1
DNM1L	10059	broad.mit.edu	37	12	32884346	32884346	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:32884346G>A	ENST00000549701.1	+	11	1331	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000381000.4_Silent_p.R432R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000452533.2_Silent_p.R419R			O00429	DNM1L_HUMAN	dynamin 1-like			23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				TGGTGAAGCGGCAAATCAAAC	0.418000																								0							SO:0001819	synonymous_variant			ENST00000549701.1	0	1	hg19	CCDS8729.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	0	0	0	5	473	0	68	0	1.605074e-01	0	55	0	68	2		0	0	0	0	0	2	1	0.935037	5	465	0	68	2		0	0	0	0	68	2	-2.038814	0	1	121412	1	32	1	0	1	1	1.952839	0	0.100000	2	0.071207	0.210000	0.080000	0.430000	0.200000	0.235653	0.210000	0	1.300000e-01	3.200000e-01
DDX23	9416	broad.mit.edu	37	12	49224974	49224974	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49224974G>C	ENST00000308025.3	-	16	2269	c.2190C>G	c.(2188-2190)atC>atG	p.I730M		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23			36					ACACATCTTGGATGTCAATAC	0.468000																								0							SO:0001583	missense			ENST00000308025.3	0	1	hg19	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471899	0.63737	.	.	ENSG00000174243	ENST00000308025	T	0.78816	-1.21	5.75	0.262	0.15597	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87803	0.6269	M	0.90595	3.13	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.87059	0.2152	10	0.87932	D	0	-13.0005	10.1741	0.42929	0.4713:0.0:0.5287:0.0	.	730	Q9BUQ8	DDX23_HUMAN	M	730	ENSP00000310723:I730M	ENSP00000310723:I730M	I	-	3	3	DDX23	47511241	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.010000	0.29898	0.103000	0.17682	0.655000	0.94253	ATC		TCGA-US-A774-01A-21D-A32N-08	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	0	0	0	6	747	1	144	0	1.097687e-02	1	80	1	144	4		0	0	0	0	0	2	0	0.009904	6	738	1	141	18		0	0	0	1	144	2	-2.632509	1	1	0	0		1	0	1	1	1.952839	0	0.100000	2	0.071207	0.160000	0.060000	0.310000	0.150000	0.176572	0.160000	0	1.000000e-01	2.400000e-01
ARF3	377	broad.mit.edu	37	12	49334797	49334797	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:49334797C>T	ENST00000256682.4	-	2	416	c.82G>A	c.(82-84)Gca>Aca	p.A28T	AC073610.5_ENST00000537495.1_5'Flank|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T|ARF3_ENST00000541967.1_5'Flank|ARF3_ENST00000447318.2_Missense_Mutation_p.A28T|RP11-302B13.5_ENST00000398092.4_Missense_Mutation_p.A28T	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3			4					GTCTTTCCTGCGGCATCCAGG	0.527000													Pancreas(189;1862 2134 4419 30933 49364)											0							SO:0001583	missense			ENST00000256682.4	0	1	hg19	CCDS8774.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567213	0.86439	.	.	ENSG00000134287	ENST00000398092;ENST00000256682;ENST00000447318;ENST00000541959;ENST00000541236;ENST00000539611;ENST00000545855	T;T;D;T;T;T;T	0.84070	-0.77;-0.77;-1.8;-0.77;-0.77;-0.77;-0.77	4.96	4.96	0.65561	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94437	0.8210	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.75484	0.888;0.986	D	0.96383	0.9283	10	0.87932	D	0	.	17.3435	0.87304	0.0:1.0:0.0:0.0	.	28;28	B7ZB63;P61204	.;ARF3_HUMAN	T	28	ENSP00000438507:A28T;ENSP00000256682:A28T;ENSP00000395370:A28T;ENSP00000438510:A28T;ENSP00000438063:A28T;ENSP00000437374:A28T;ENSP00000446353:A28T	ENSP00000256682:A28T	A	-	1	0	ARF3	47621064	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	6.049000	0.71053	2.476000	0.83614	0.561000	0.74099	GCA		TCGA-US-A774-01A-21D-A32N-08	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	0	0	0	8	833	1	139	0	1.362271e-02	1	334	1	139	10		0	0	0	0	0	2	0	0.014683	10	813	1	138	20		0	0	0	1	139	2	-1.929469	0	1	0	0		1	0	1	1	1.952839	0	0.100000	2	0.071207	0.190000	0.080000	0.340000	0.180000	0.203698	0.190000	0	1.300000e-01	2.700000e-01
TRHDE	29953	broad.mit.edu	37	12	72667194	72667194	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr12:72667194G>A	ENST00000261180.4	+	1	732	c.636G>A	c.(634-636)ccG>ccA	p.P212P	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme			79					TCCTCTACCCGCAAACCCAGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000261180.4	0	1	hg19	CCDS9004.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	0	0	0	6	460	1	87	0	3.636207e-03	0	6	1	87	2		0	0	0	0	0	2	0	0.009493	6	454	1	87	18		0	0	0	1	87	2	-2.489759	0	1	0	0		1	0	1	1	1.952839	0	0.100000	2	0.071207	0.260000	0.100000	0.500000	0.250000	0.281776	0.260000	0	1.700000e-01	3.800000e-01
TNFRSF19	55504	broad.mit.edu	37	13	24242948	24242948	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr13:24242948C>T	ENST00000382258.4	+	9	1161	c.957C>T	c.(955-957)aaC>aaT	p.N319N	TNFRSF19_ENST00000403372.2_Silent_p.N187N|TNFRSF19_ENST00000248484.4_Silent_p.N319N|TNFRSF19_ENST00000382263.3_Silent_p.N319N	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19			22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)			GTGGTGACAACATCTCTTTTT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000382258.4	1	1	hg19	CCDS9302.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	1	0	0	33	617	0	115	0	3.932415e-01	0	26	0	115	2		0	0	0	0	0	2	1	1.000000	33	609	0	115	2		0	0	0	0	115	2	-6.023837	1	1	0	0		1	1	2	3	2.023831	0	0.100000	2	0.110672	0.990000	0.730000	1.000000	1.000000	0.959416	0.990000	1	8.800000e-01	1
KCNH5	27133	broad.mit.edu	37	14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5			99					TTGCCCCCCGGCATCCTGGGT	0.602000																								0							SO:0001583	missense			ENST00000322893.7	0	1	hg19	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743568	0.69418	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98876	-5.2;-5.06	5.23	5.23	0.72850	.	0.052087	0.85682	D	0.000000	D	0.98248	0.9420	M	0.72118	2.19	0.80722	D	1	P;P	0.37548	0.538;0.599	P;B	0.44359	0.447;0.103	D	0.99806	1.1038	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	2;2	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	S	2	ENSP00000321427:P2S;ENSP00000395439:P2S	ENSP00000321427:P2S	P	-	1	0	KCNH5	62581654	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.118000	0.89577	2.611000	0.88343	0.563000	0.77884	CCG		TCGA-US-A774-01A-21D-A32N-08	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	0	0	0	5	263	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.935626	6	258	0	53	2		0	0	0	0	54	2	-4.052912	1	1	0	0		1	1	2	3	2.020912	0	0.100000	2	0.110232	0.450000	0.160000	1.000000	0.360000	0.530844	0.450000	0	2.700000e-01	1
ZP2	7783	broad.mit.edu	37	16	21209136	21209136	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:21209136G>T	ENST00000574002.1	-	19	2528	c.2046C>A	c.(2044-2046)agC>agA	p.S682R	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.S673R|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)			41					TCTCCCCACTGCTCCCACTTG	0.468000																								0							SO:0001583	missense			ENST00000574002.1	1	1	hg19	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146585	0.21288	.	.	ENSG00000103310	ENST00000219593	T	0.76060	-0.99	4.26	-5.44	0.02624	.	17.585600	0.00496	N	0.000144	T	0.50888	0.1642	N	0.08118	0	0.09310	N	1	B;B	0.29432	0.244;0.148	B;B	0.26969	0.075;0.035	T	0.42716	-0.9435	10	0.30854	T	0.27	25.2756	6.89	0.24224	0.7005:0.0:0.1658:0.1337	.	673;682	Q4VAP1;Q05996	.;ZP2_HUMAN	R	682	ENSP00000219593:S682R	ENSP00000219593:S682R	S	-	3	2	ZP2	21116637	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.272000	0.08560	-1.035000	0.03291	0.563000	0.77884	AGC		TCGA-US-A774-01A-21D-A32N-08	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2	1	0	0	35	565	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1.000000	35	548	0	97	2		0	0	0	0	100	2	-6.583259	1	1	0	0		1	1	2	3	2.028586	0	0.100000	2	0.111988	0.990000	0.850000	1.000000	1.000000	0.989387	0.990000	1	9.900000e-01	1
PRKCB	5579	broad.mit.edu	37	16	24104167	24104167	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:24104167C>T	ENST00000321728.7	+	6	760	c.585C>T	c.(583-585)taC>taT	p.Y195Y	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Silent_p.Y195Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta			9				Tamoxifen(DB00675)|Vitamin E(DB00163)	CAGATCCCTACGTAAAACTGA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000321728.7	1	1	hg19	CCDS10618.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	1	0	0	33	485	0	93	0	4.000390e-01	0	21	0	93	2		0	0	0	0	0	2	1	1.000000	33	481	0	92	2		0	0	0	0	93	2	-7.910216	1	1	121412	3	38	1	1	2	3	2.028586	0	0.100000	2	0.111988	0.990000	0.920000	1.000000	1.000000	0.995662	0.990000	1	9.900000e-01	1
CAPNS2	84290	broad.mit.edu	37	16	55601209	55601209	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:55601209G>A	ENST00000457326.2	+	1	626	c.541G>A	c.(541-543)Gca>Aca	p.A181T	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2			7					TCTGCAGGCCGCAGGCTTCCA	0.463000																								0							SO:0001583	missense			ENST00000457326.2	0	1	hg19	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472549	0.96274	.	.	ENSG00000256812	ENST00000457326	T	0.47869	0.83	5.98	5.98	0.97165	EF-hand-like domain (1);	.	.	.	.	T	0.77103	0.4081	M	0.91038	3.17	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.80799	-0.1221	9	0.72032	D	0.01	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	181	Q96L46	CPNS2_HUMAN	T	181	ENSP00000400882:A181T	ENSP00000400882:A181T	A	+	1	0	CAPNS2	54158710	1.000000	0.71417	0.986000	0.45419	0.931000	0.56810	8.752000	0.91632	2.835000	0.97688	0.650000	0.86243	GCA		TCGA-US-A774-01A-21D-A32N-08	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	0	0	0	6	548	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	0.963736	6	541	0	90	2		0	0	0	0	90	2	-1.961768	0	1	120832	2	39	1	1	2	3	2.028586	0	0.100000	2	0.111988	0.260000	0.100000	1.000000	0.220000	0.393061	0.260000	0	1.600000e-01	1
COG8	84342	broad.mit.edu	37	16	69368827	69368827	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr16:69368827C>T	ENST00000306875.4	-	3	1124	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	RP11-343C2.12_ENST00000562949.1_5'Flank|COG8_ENST00000562081.1_Missense_Mutation_p.G337D	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8			9					GCCGCCTATGCCCCGGTAAAG	0.582000																								0							SO:0001583	missense			ENST00000306875.4	0	1	hg19	CCDS10876.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255165	0.80135	.	.	ENSG00000213380	ENST00000306875	T	0.43688	0.94	5.93	5.93	0.95920	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	L	0.48935	1.535	0.80722	D	1	B;B	0.34103	0.437;0.437	B;B	0.41174	0.349;0.349	T	0.15578	-1.0432	10	0.12430	T	0.62	-3.5502	20.3363	0.98740	0.0:1.0:0.0:0.0	.	364;337	B4DYU2;Q96MW5	.;COG8_HUMAN	D	337	ENSP00000305459:G337D	ENSP00000305459:G337D	G	-	2	0	COG8	67926328	1.000000	0.71417	0.556000	0.28293	0.972000	0.66771	7.441000	0.80485	2.814000	0.96858	0.563000	0.77884	GGC		TCGA-US-A774-01A-21D-A32N-08	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	0	0	0	5	437	0	77	0	2.685186e-01	0	75	0	77	2		0	0	0	0	0	2	1	0.936752	5	434	0	75	2		0	0	0	0	77	2	-3.123785	1	1	121412	2	35	1	1	2	3	2.028586	0	0.100000	2	0.111988	0.280000	0.090000	1.000000	0.220000	0.407223	0.280000	0	1.600000e-01	1
NCOR1	9611	broad.mit.edu	37	17	15935762	15935762	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:15935762G>A	ENST00000268712.3	-	46	7428	c.7171C>T	c.(7171-7173)Cgg>Tgg	p.R2391W	NCOR1_ENST00000395857.3_Missense_Mutation_p.R975W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	p.R2391W(1)		107					CTGAGCATCCGCATAGTCAGA	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000268712.3	0	1	hg19	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778640	0.70107	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.62364	0.03;0.64;0.15	5.96	3.9	0.45041	.	0.048575	0.85682	D	0.000000	T	0.75510	0.3859	M	0.72894	2.215	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;P;D;D;D	0.79108	0.947;0.893;0.992;0.987;0.976	T	0.76418	-0.2966	10	0.87932	D	0	-9.7742	10.6076	0.45402	0.0:0.1166:0.4874:0.3961	.	2294;2391;2288;910;404	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	W	2391;2288;2294;975	ENSP00000268712:R2391W;ENSP00000379192:R2288W;ENSP00000379198:R975W	ENSP00000268712:R2391W	R	-	1	2	NCOR1	15876487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.109000	0.50345	0.780000	0.33566	-0.181000	0.13052	CGG		TCGA-US-A774-01A-21D-A32N-08	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	0	0	0	5	381	0	64	0	4.295551e-01	0	97	0	64	2		0	0	0	0	0	2	1	0.933980	5	372	0	64	2		0	0	0	0	64	2	-2.245554	0	1	0	0		1	0	0	0	1.902779	0	0.100000	2	0.046610	0.250000	0.090000	0.510000	0.230000	0.276486	0.250000	0	1.600000e-01	3.800000e-01
TLK2	11011	broad.mit.edu	37	17	60689888	60689888	+	Missense_Mutation	SNP	T	T	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:60689888T>G	ENST00000326270.9	+	23	2549	c.2281T>G	c.(2281-2283)Tca>Gca	p.S761A	TLK2_ENST00000346027.5_Missense_Mutation_p.S739A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000343388.7_Missense_Mutation_p.S707A|TLK2_ENST00000582809.1_Missense_Mutation_p.S590A	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2			39					TGCTATTGCATCAACCTCTGG	0.507000																								0							SO:0001583	missense			ENST00000326270.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	5.315	0.243429	0.10077	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.65549	-0.13;-0.16;-0.14;-0.16	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.055808	0.85682	D	0.000000	T	0.54886	0.1886	N	0.08118	0	0.80722	D	1	P;P;P;P	0.47910	0.841;0.902;0.902;0.841	P;P;P;P	0.60236	0.746;0.871;0.871;0.746	T	0.53535	-0.8425	10	0.02654	T	1	.	15.3837	0.74681	0.0:0.0:0.0:1.0	.	761;707;739;739	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	A	739;707;761;707	ENSP00000275780:S739A;ENSP00000340800:S707A;ENSP00000316512:S761A;ENSP00000442311:S707A	ENSP00000316512:S761A	S	+	1	0	TLK2	58043620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.231000	0.72958	0.459000	0.35465	TCA		TCGA-US-A774-01A-21D-A32N-08	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	0	0	1	13	269	0	49	1	8.182978e-01	8	59	0	49	2		0	0	0	0	0	2	1	0.999463	13	260	0	60	2		0	0	0	0	49	2	-15.149380	1	1	0	0		1	1	2	3	2.025896	0	0.100000	2	0.111111	0.990000	0.540000	1.000000	1.000000	0.904513	0.990000	1	7.400000e-01	1
CACNG1	786	broad.mit.edu	37	17	65051326	65051326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:65051326C>T	ENST00000226021.3	+	3	483	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1			8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)			Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTATCTGCTGCGACCCGCGTC	0.637000																								0							SO:0001587	stop_gained			ENST00000226021.3	0	1	hg19	CCDS11668.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459665	0.43736	.	.	ENSG00000108878	ENST00000226021	.	.	.	5.14	0.225	0.15325	.	0.072524	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.2269	0.65866	0.5757:0.4243:0.0:0.0	.	.	.	.	X	138	.	ENSP00000226021:R138X	R	+	1	2	CACNG1	62481788	1.000000	0.71417	0.992000	0.48379	0.137000	0.21094	2.256000	0.43231	-0.214000	0.10078	0.462000	0.41574	CGA		TCGA-US-A774-01A-21D-A32N-08	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447039.1	0	0	0	6	309	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.964318	6	306	0	44	2		0	0	0	0	45	2	-3.298613	1	1	121412	2	30	1	1	2	3	2.025896	0	0.100000	2	0.111111	0.450000	0.170000	1.000000	0.380000	0.536807	0.450000	0	2.800000e-01	1
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel			11					GCCATTGAGCGCATAGGCTAC	0.622000																								0							SO:0001583	missense			ENST00000334586.5	0	1	hg19	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		TCGA-US-A774-01A-21D-A32N-08	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	0	0	0	6	720	1	145	0	8.076705e-03	0	190	1	145	7		0	0	0	0	0	2	0	0.010129	6	714	1	142	18		0	0	0	1	145	2	-1.756173	0	1	121412	1	33	1	1	2	3	2.025896	0	0.100000	2	0.111111	0.190000	0.070000	1.000000	0.160000	0.337402	0.190000	0	1.200000e-01	1
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:7578404A>C	ENST00000269305.4	-	5	715	c.526T>G	c.(526-528)Tgc>Ggc	p.C176G	TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176G|TP53_ENST00000420246.2_Missense_Mutation_p.C176G|TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000413465.2_Missense_Mutation_p.C176G	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.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TGGTGGGGGCAGCGCCTCACA	0.647000		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	80	Substitution - Missense(26)|Deletion - Frameshift(25)|Deletion - In frame(13)|Whole gene deletion(8)|Insertion - Frameshift(5)|Complex - deletion inframe(3)						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	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.725152	0.89298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.998;0.971;0.983;0.996;0.995;0.977;0.994	D;D;D;D;D;D;D	0.87578	0.998;0.977;0.982;0.998;0.988;0.973;0.996	D	0.96412	0.9305	10	0.87932	D	0	-18.1821	14.037	0.64651	1.0:0.0:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176G;ENSP00000352610:C176G;ENSP00000269305:C176G;ENSP00000398846:C176G;ENSP00000391127:C176G;ENSP00000391478:C176G;ENSP00000425104:C44G;ENSP00000423862:C83G	ENSP00000269305:C176G	C	-	1	0	TP53	7519129	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.287000	0.95975	2.263000	0.75096	0.533000	0.62120	TGC		TCGA-US-A774-01A-21D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	1	12	342	0	75	1	7.727135e-01	20	62	0	75	2	1	9.999677e-01	41	528	0	797	2	1	0.999077	11	339	0	75	2		0	0	0	0	75	2	-12.527010	1	1	0	0		1	0	0	0	1.902779	0	0.100000	2	0.046610	0.600000	0.340000	0.850000	0.610000	0.613543	0.600000	0	4.600000e-01	7.600000e-01
BAIAP2	10458	broad.mit.edu	37	17	79078379	79078379	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr17:79078379C>T	ENST00000321300.6	+	10	1225	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2			18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		TGGCCGTATGCGGGTGAAGGC	0.642000																								0							SO:0001583	missense			ENST00000321300.6	0	1	hg19	CCDS11775.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889006	0.72524	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.37411	1.64;1.66;1.21;1.21;1.65;1.2	4.79	2.58	0.30949	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.91920	3.255	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999	T	0.75651	-0.3244	10	0.87932	D	0	-18.6775	13.6331	0.62206	0.3669:0.6331:0.0:0.0	.	241;300;379;378;378;378;378;379;378	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	W	378;378;378;378;300;241	ENSP00000316338:R378W;ENSP00000401022:R378W;ENSP00000413069:R378W;ENSP00000315685:R378W;ENSP00000376211:R300W;ENSP00000391837:R241W	ENSP00000315685:R378W	R	+	1	2	BAIAP2	76692974	0.985000	0.35326	1.000000	0.80357	0.889000	0.51656	0.882000	0.28186	1.110000	0.41699	0.484000	0.47621	CGG		TCGA-US-A774-01A-21D-A32N-08	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1	0	0	0	5	377	0	76	0	6.497834e-01	0	157	0	76	2		0	0	0	0	0	2	1	0.937072	5	376	0	76	2		0	0	0	0	76	2	-2.736431	1	1	0	0		1	1	2	3	2.025896	0	0.100000	2	0.111111	0.320000	0.110000	1.000000	0.260000	0.433598	0.320000	0	1.900000e-01	1
RYR1	6261	broad.mit.edu	37	19	38948830	38948830	+	Missense_Mutation	SNP	G	G	A	rs144845360		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:38948830G>A	ENST00000359596.3	+	18	2065	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	RYR1_ENST00000360985.3_Missense_Mutation_p.E689K|RYR1_ENST00000355481.4_Missense_Mutation_p.E689K			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCCTCACCGAGGGCTACAC	0.627000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593369	0.66219	4.54E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	T	0.76499	0.3996	L	0.46947	1.48	0.38142	D	0.938482	D;P	0.89917	1.0;0.796	D;P	0.66497	0.944;0.459	T	0.73531	-0.3953	10	0.21540	T	0.41	.	14.2501	0.66013	0.0:0.0:0.8505:0.1495	.	689;689	P21817-2;P21817	.;RYR1_HUMAN	K	689	ENSP00000352608:E689K;ENSP00000347667:E689K;ENSP00000354254:E689K	ENSP00000347667:E689K	E	+	1	0	RYR1	43640670	1.000000	0.71417	0.967000	0.41034	0.989000	0.77384	4.716000	0.61916	2.623000	0.88846	0.549000	0.68633	GAG		TCGA-US-A774-01A-21D-A32N-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0	0	0	15	505	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.999863	15	499	0	88	2		0	0	0	0	88	2	-3.267917	1	1	121408	2	39	1	0	1	1	1.988827	0	0.100000	2	0.091826	0.570000	0.330000	0.890000	0.560000	0.595411	0.570000	0	4.400000e-01	7.300000e-01
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6			44		Prostate(69;0.00899)			GTTAGAGTCCGCAAAGCAGGA	0.448000																								0							SO:0001583	missense			ENST00000292125.2	0	1	hg19	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		TCGA-US-A774-01A-21D-A32N-08	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	0	0	7	1180	1	209		0	0	0	1	209	2		0	0	0	0	0	2	0	0.008507	4	1170	1	204	20		0	0	0	1	209	2	-1.719683	0	1	121350	3	44	1	1	2	3	2.068315	0	0.100000	2	0.127484	0.140000	0.050000	1.000000	0.130000	0.332326	0.140000	0	9.000000e-02	1
PRKCG	5582	broad.mit.edu	37	19	54392899	54392899	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:54392899G>A	ENST00000263431.3	+	4	575	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma			10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			Tamoxifen(DB00675)	CAGGACCCCCGGAACAAACAC	0.602000																								0							SO:0001583	missense			ENST00000263431.3	1	1	hg19	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574096	0.65765	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000419486	D;D;D	0.84370	-1.84;-1.84;-1.84	4.54	4.54	0.55810	.	.	.	.	.	D	0.82499	0.5050	M	0.74881	2.28	0.80722	D	1	P;B;P;P	0.43701	0.769;0.425;0.815;0.679	B;B;B;B	0.33121	0.149;0.066;0.111;0.158	D	0.84896	0.0839	9	0.45353	T	0.12	.	15.2147	0.73254	0.0:0.0:1.0:0.0	.	98;98;98;98	F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;KPCG_HUMAN	Q	98;98;98;121	ENSP00000440541:R98Q;ENSP00000443493:R98Q;ENSP00000263431:R98Q	ENSP00000263431:R98Q	R	+	2	0	PRKCG	59084711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.260000	0.74910	0.644000	0.83932	CGG		TCGA-US-A774-01A-21D-A32N-08	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	0	0	0	9	250	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.994143	9	247	0	36	2		0	0	0	0	36	2	-3.204568	1	1	0	0		1	1	2	3	2.035163	0	0.100000	2	0.113300	0.800000	0.370000	1.000000	1.000000	0.786227	0.800000	0	5.400000e-01	1
CFD	1675	broad.mit.edu	37	19	861750	861750	+	Missense_Mutation	SNP	C	C	T	rs139666945	byFrequency	TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:861750C>T	ENST00000327726.6	+	4	646	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	CFD_ENST00000592860.1_Missense_Mutation_p.R144C	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)					Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			GCCCTGGCAGCGCGTGGACCG	0.731000																								0							SO:0001583	missense			ENST00000327726.6	0	1	hg19	CCDS12046.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316929	0.40996	0.001386	0.0	ENSG00000197766	ENST00000327726	D	0.88896	-2.44	4.06	1.59	0.23543	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.527246	0.13683	U	0.370035	D	0.88966	0.6581	L	0.41492	1.28	0.42835	D	0.994032	D;D	0.89917	1.0;0.999	P;P	0.62089	0.898;0.885	D	0.86253	0.1650	10	0.66056	D	0.02	.	6.682	0.23125	0.277:0.6274:0.0:0.0956	.	144;137	A6XNE2;P00746	.;CFAD_HUMAN	C	137	ENSP00000332139:R137C	ENSP00000332139:R137C	R	+	1	0	CFD	812750	0.070000	0.21116	0.477000	0.27303	0.114000	0.19823	0.194000	0.17135	0.805000	0.34159	0.313000	0.20887	CGC		TCGA-US-A774-01A-21D-A32N-08	CFD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457891.2	1	0	0	6	96	0	27	1	9.815166e-01	4	118	0	27	2		0	0	0	0	0	2	1	0.965416	5	96	0	27	2		0	0	0	0	27	2	-10.136160	1	1	119336	5	33	1	0	0	0	1.960974	0	0.100000	2	0.075975	0.990000	0.460000	1.000000	1.000000	0.891599	0.990000	1	7.100000e-01	1
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	4	347	1	75		0	0	0	1	75	2		0	0	0	0	0	2	0	0.004691	4	341	1	74	16		0	0	0	1	75	2	-2.328547	0	1	0	0		1	0	0	0	1.951218	0	0.100000	2	0.071207	0.240000	0.080000	0.510000	0.210000	0.264331	0.240000	0	1.400000e-01	3.700000e-01
HRNR	388697	broad.mit.edu	37	1	152191731	152191731	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:152191731C>T	ENST00000368801.2	-	3	2449	c.2374G>A	c.(2374-2376)Ggc>Agc	p.G792S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin			192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		CCGTGTTGGCCGTGGCTGGAG	0.602000																								0							SO:0001583	missense			ENST00000368801.2	1	1	hg19	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.079	0.569916	0.13560	.	.	ENSG00000197915	ENST00000368801	T	0.05382	3.45	2.54	0.333	0.15943	.	.	.	.	.	T	0.01092	0.0036	L	0.36672	1.1	0.09310	N	1	P	0.41978	0.767	B	0.31245	0.126	T	0.48031	-0.9070	9	0.23891	T	0.37	.	4.4579	0.11652	0.0:0.5922:0.0:0.4078	.	792	Q86YZ3	HORN_HUMAN	S	792	ENSP00000357791:G792S	ENSP00000357791:G792S	G	-	1	0	HRNR	150458355	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.666000	0.05280	-0.051000	0.13334	0.456000	0.33151	GGC		TCGA-US-A774-01A-21D-A32N-08	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	0	0	0	11	292	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	0.998292	10	289	0	84	2		0	0	0	0	85	2	-3.115879	1	1	0	0		1	1	2	3	2.023670	0	0.100000	2	0.110672	0.810000	0.410000	1.000000	1.000000	0.796754	0.810000	0	5.700000e-01	1
KCNN3	3782	broad.mit.edu	37	1	154841843	154841843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:154841843C>A	ENST00000271915.4	-	1	913	c.598G>T	c.(598-600)Gag>Tag	p.E200*	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3			28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)	Miconazole(DB01110)|Procaine(DB00721)	GTCTCGGCCTCGATGAGGTTC	0.637000																								0							SO:0001587	stop_gained			ENST00000271915.4	0	1	hg19	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	40	8.086447	0.98646	.	.	ENSG00000143603	ENST00000271915	.	.	.	4.75	4.75	0.60458	.	0.000000	0.44285	D	0.000468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.4109	15.2796	0.73770	0.0:1.0:0.0:0.0	.	.	.	.	X	200	.	ENSP00000271915:E200X	E	-	1	0	KCNN3	153108467	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.750000	0.68712	2.461000	0.83175	0.561000	0.74099	GAG		TCGA-US-A774-01A-21D-A32N-08	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	0	0	0	7	449	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	0.979839	7	443	0	94	2		0	0	0	0	95	2	-3.303133	1	1	121412	1	30	1	1	2	3	2.023670	0	0.100000	2	0.110672	0.360000	0.150000	1.000000	0.300000	0.461030	0.360000	0	2.300000e-01	1
HMCN1	83872	broad.mit.edu	37	1	186024700	186024700	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:186024700C>T	ENST00000271588.4	+	45	7267	c.7038C>T	c.(7036-7038)caC>caT	p.H2346H	HMCN1_ENST00000367492.2_Silent_p.H2346H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					ATGAAGGTCACATCCTTCAGC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000271588.4	1	1	hg19	CCDS30956.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	0	20	392	0	60	0	2.689017e-03	0	2	0	60	2		0	0	0	0	0	2	1	0.999995	20	388	0	60	2		0	0	0	0	60	2	-5.060802	1	1	0	0		1	1	2	3	2.021750	0	0.100000	2	0.110232	0.990000	0.630000	1.000000	1.000000	0.932240	0.990000	1	8.100000e-01	1
HHIPL2	79802	broad.mit.edu	37	1	222696153	222696153	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:222696153G>A	ENST00000343410.6	-	9	2023	c.1965C>T	c.(1963-1965)ggC>ggT	p.G655G	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2			59					CCTGGGCTGGGCCAGAAGCTA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000343410.6	0	1	hg19	CCDS1530.2																																																																																				TCGA-US-A774-01A-21D-A32N-08	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	0	0	0	6	796	0	158		0	0	0	0	158	2		0	0	0	0	0	2	1	0.964639	6	793	0	157	2		0	0	0	0	158	2	-1.877766	0	1	0	0		1	1	2	3	2.021750	0	0.100000	2	0.110232	0.170000	0.060000	1.000000	0.150000	0.313788	0.170000	0	1.100000e-01	1
PLD5	200150	broad.mit.edu	37	1	242451663	242451663	+	Splice_Site	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:242451663C>T	ENST00000536534.2	-	3	737		c.e3+1		PLD5_ENST00000427495.1_Splice_Site|PLD5_ENST00000442594.2_Splice_Site			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5			55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)		ATGTAGCTTACCTGACATGCT	0.413000																								0							SO:0001630	splice_region_variant			ENST00000536534.2	1	1	hg19	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307958	0.60305	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9007	0.63802	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLD5	240518286	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.399000	0.66314	2.134000	0.65973	0.591000	0.81541	.		TCGA-US-A774-01A-21D-A32N-08	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	1	0	0	23	460	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.999999	23	443	0	91	2		0	0	0	0	87	2	-5.218896	1	1	0	0		1	1	2	3	2.021750	0	0.100000	2	0.110232	0.990000	0.640000	1.000000	1.000000	0.928419	0.990000	1	8.000000e-01	1
MACF1	23499	broad.mit.edu	37	1	39818849	39818849	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:39818849C>A	ENST00000372915.3	+	43	11472	c.11385C>A	c.(11383-11385)taC>taA	p.Y3795*	MACF1_ENST00000564288.1_Nonsense_Mutation_p.Y3790*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Y2230*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Y3827*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y1728*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1			203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		CTGATGGTTACATGGGGGTGA	0.502000																								0							SO:0001587	stop_gained			ENST00000372915.3	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.139508|6.139508	0.97320|0.97320	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	.|.	.|.	.|.	5.35|5.35	0.971|0.971	0.19698|0.19698	.|.	.|0.687238	.|0.13641	.|N	.|0.372941	T|.	0.08670|.	0.0215|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34976|.	-0.9807|.	4|.	.|0.02654	.|T	.|1	.|.	1.9822|1.9822	0.03429|0.03429	0.1365:0.489:0.1333:0.2412|0.1365:0.489:0.1333:0.2412	.|.	.|.	.|.	.|.	N|X	862|1728;3795;1728;1728;1728;1877;2230	.|.	.|ENSP00000289893:Y2230X	H|Y	+|+	1|3	0|2	MACF1|MACF1	39591436|39591436	0.000000|0.000000	0.05858|0.05858	0.084000|0.084000	0.20598|0.20598	0.980000|0.980000	0.70556|0.70556	-0.256000|-0.256000	0.08757|0.08757	0.597000|0.597000	0.29811|0.29811	0.555000|0.555000	0.69702|0.69702	CAT|TAC		TCGA-US-A774-01A-21D-A32N-08	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	0	0	5	259	0	27	0	1.146582e-01	0	25	0	27	2	0	9.858136e-01	0	428	0	586	2	1	0.935597	4	256	0	26	2		0	0	0	0	27	2	-4.032619	1	0	0	0		1	1	2	3	2.009777	0	0.100000	2	0.107586	0.440000	0.160000	1.000000	0.380000	0.514302	0.440000	0	2.700000e-01	8.200000e-01
PTCH2	8643	broad.mit.edu	37	1	45307637	45307637	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:45307637G>A	ENST00000372192.3	-	2	277	c.147C>T	c.(145-147)tgC>tgT	p.C49C	PTCH2_ENST00000447098.2_Silent_p.C49C	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	p.C49C(1)		50	Acute lymphoblastic leukemia(166;0.155)				TCTGGATCCCGCATCCCAGAG	0.557000									Basal Cell Nevus syndrome															1	Substitution - coding silent(1)						SO:0001819	synonymous_variant	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ENST00000372192.3	0	1	hg19	CCDS516.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	0	0	0	7	678	0	103	0	1.518885e-04	0	2	0	103	2		0	0	0	0	0	2	1	0.980469	7	676	0	102	2		0	0	0	0	103	2	-1.942492	0	1	121412	3	39	1	1	2	3	2.009777	0	0.100000	2	0.107586	0.230000	0.090000	1.000000	0.210000	0.333799	0.230000	0	1.500000e-01	4.100000e-01
CAMTA1	23261	broad.mit.edu	37	1	7724800	7724800	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:7724800C>T	ENST00000303635.7	+	9	2400	c.2193C>T	c.(2191-2193)ggC>ggT	p.G731G	CAMTA1_ENST00000439411.2_Silent_p.G731G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1			85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)			GAAGCGCCGGCGGCGTCCCCA	0.672000			T	WWTR1	epitheliod hemangioendothelioma										Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0							SO:0001819	synonymous_variant			ENST00000303635.7	1	1	hg19	CCDS30576.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	0	0	0	16	438	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.999932	16	435	0	78	2		0	0	0	0	78	2	-3.750184	1	1	121394	2	31	1	1	2	3	2.027742	0	0.100000	2	0.111550	0.770000	0.440000	1.000000	1.000000	0.782958	0.770000	0	5.800000e-01	1
LPAR3	23566	broad.mit.edu	37	1	85331338	85331338	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr1:85331338C>T	ENST00000440886.1	-	1	504	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T|LPAR3_ENST00000491034.1_Intron			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	p.A156T(1)		24					ATAAAAATGGCGATGGCCCAG	0.542000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000440886.1	0	1	hg19	CCDS700.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512109	0.64522	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.41758	0.99;0.99	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.050820	0.85682	D	0.000000	T	0.57344	0.2047	M	0.86740	2.835	0.49798	D	0.999824	D	0.63046	0.992	P	0.53490	0.727	T	0.67703	-0.5602	10	0.87932	D	0	.	19.0389	0.92991	0.0:1.0:0.0:0.0	.	156	Q9UBY5	LPAR3_HUMAN	T	156	ENSP00000395389:A156T;ENSP00000359643:A156T	ENSP00000359643:A156T	A	-	1	0	LPAR3	85103926	1.000000	0.71417	0.995000	0.50966	0.363000	0.29612	6.295000	0.72744	2.501000	0.84356	0.655000	0.94253	GCC		TCGA-US-A774-01A-21D-A32N-08	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	0	0	0	8	845	1	163	0	0	0	1	1	163	2		0	0	0	0	0	2	0	0.035459	8	841	1	162	18		0	0	0	1	163	2	-1.947664	0	1	121412	3	40	1	1	2	3	2.009777	0	0.100000	2	0.107586	0.210000	0.090000	1.000000	0.190000	0.314903	0.210000	0	1.400000e-01	3.600000e-01
BAGE2	85319	broad.mit.edu	37	21	11097591	11097591	+	RNA	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:11097591G>A	ENST00000470054.1	-	0	278							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2						Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)		caccacaggggactcctcctt	0.542000																								0											ENST00000470054.1	0	1	hg19																																																																																					TCGA-US-A774-01A-21D-A32N-08	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	0	0	0	22	512	1	68		0	0	0	1	68	2		0	0	0	0	0	2	0	0.388484	15	389	1	72	19		0	0	0	1	68	2	-19.949720	1	1	118292	1	31	1						0.100000	2									0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999888	45999888	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr21:45999888G>A	ENST00000400372.1	-	1	593	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5			14					GAGCAGACGGGCACACAGCAG	0.622000																								0							SO:0001583	missense			ENST00000400372.1	0	1	hg19	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	6.527	0.465563	0.12402	.	.	ENSG00000241123	ENST00000400372	T	0.01279	5.06	2.02	1.07	0.20283	.	.	.	.	.	T	0.04815	0.0130	L	0.53249	1.67	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.38394	-0.9663	9	0.45353	T	0.12	.	7.3404	0.26633	0.0:0.0:0.737:0.263	.	190	P60370	KR105_HUMAN	S	190	ENSP00000383223:P190S	ENSP00000383223:P190S	P	-	1	0	KRTAP10-5	44824316	0.002000	0.14202	0.001000	0.08648	0.036000	0.12997	0.039000	0.13884	0.163000	0.19507	0.305000	0.20034	CCC		TCGA-US-A774-01A-21D-A32N-08	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1	0	0	0	8	1250	0	259		0	0	0	0	259	2		0	0	0	0	0	2	1	0.988168	7	1219	0	261	2		0	0	0	0	259	2	-2.021180	0	1	0	0		1	0	1	1	1.998143	0	0.100000	2	0.094112	0.130000	0.050000	0.240000	0.130000	0.140840	0.130000	0	8.000000e-02	1.900000e-01
MYO18B	84700	broad.mit.edu	37	22	26422752	26422752	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26422752G>A	ENST00000407587.2	+	43	6984	c.6815G>A	c.(6814-6816)gGc>gAc	p.G2272D	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2271D|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2271D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					TCCACGCTGGGCCTAGAGGAC	0.647000																								0							SO:0001583	missense			ENST00000407587.2	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	2.999971|2.999971	0.54147|0.54147	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000543971|ENST00000536101;ENST00000335473;ENST00000407587	.|D;D;D	.|0.92299	.|-2.99;-2.99;-3.01	4.67|4.67	3.25|3.25	0.37280|0.37280	.|.	.|0.544752	.|0.15001	.|N	.|0.286133	D|D	0.88317|0.88317	0.6404|0.6404	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P;P;P;P	.|0.49783	.|0.835;0.883;0.883;0.9;0.928	.|P;B;B;P;P	.|0.44990	.|0.466;0.274;0.274;0.466;0.463	T|T	0.79137|0.79137	-0.1927|-0.1927	5|10	.|0.37606	.|T	.|0.19	.|.	4.4138|4.4138	0.11447|0.11447	0.1586:0.0:0.6468:0.1947|0.1586:0.0:0.6468:0.1947	.|.	.|1784;2273;2271;2272;2271	.|Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.|.;.;MY18B_HUMAN;.;.	T|D	221|2271;2271;2272	.|ENSP00000441229:G2271D;ENSP00000334563:G2271D;ENSP00000386096:G2272D	.|ENSP00000334563:G2271D	A|G	+|+	1|2	0|0	MYO18B|MYO18B	24752752|24752752	0.879000|0.879000	0.30193|0.30193	0.986000|0.986000	0.45419|0.45419	0.910000|0.910000	0.53928|0.53928	1.586000|1.586000	0.36611|0.36611	0.602000|0.602000	0.29896|0.29896	0.313000|0.313000	0.20887|0.20887	GCC|GGC		TCGA-US-A774-01A-21D-A32N-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	6	49	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.967893	6	49	0	16	2		0	0	0	0	16	2	-12.364340	1	1	0	0		1	1	2	3	2.013639	0	0.100000	2	0.108470	0.990000	0.850000	1.000000	1.000000	0.991258	0.990000	1	9.900000e-01	1
SEZ6L	23544	broad.mit.edu	37	22	26693012	26693012	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr22:26693012C>T	ENST00000248933.6	+	4	1223	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000529632.2_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	p.D376D(2)		80					CCTTCCAGGACGACGGCCTTG	0.577000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000248933.6	0	1	hg19	CCDS13833.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3	0	0	0	5	220	0	27	0	4.645534e-03	0	4	0	27	2		0	0	0	0	0	2	1	0.933710	5	214	0	27	2		0	0	0	0	27	2	-6.542302	1	1	121412	6	33	1	1	2	3	2.013639	0	0.100000	2	0.108470	0.520000	0.190000	1.000000	1.000000	0.582528	0.520000	0	3.200000e-01	1
LCT	3938	broad.mit.edu	37	2	136575286	136575286	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136575286G>A	ENST00000264162.2	-	6	1342	c.1332C>T	c.(1330-1332)tgC>tgT	p.C444C	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase			124				Vitamin C(DB00126)	CCCGGAGGCCGCAAAGCAGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000264162.2	0	1	hg19	CCDS2178.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	0	0	0	5	492	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	0.936835	5	489	0	91	2		0	0	0	0	91	2	-2.320242	0	1	121412	7	40	1	1	2	3	2.015746	0	0.100000	2	0.108911	0.240000	0.080000	1.000000	0.200000	0.354278	0.240000	0	1.400000e-01	5.200000e-01
MCM6	4175	broad.mit.edu	37	2	136615535	136615535	+	Missense_Mutation	SNP	G	G	A	rs138808270		TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:136615535G>A	ENST00000264156.2	-	10	1462	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6			29					ACTTGATCCCGCACGTCCATC	0.428000													Ovarian(196;141 2104 8848 24991 25939)											0							SO:0001583	missense			ENST00000264156.2	0	1	hg19	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906911	0.72868	2.27E-4	0.0	ENSG00000076003	ENST00000264156	T	0.07021	3.23	5.68	2.57	0.30868	.	0.090508	0.64402	D	0.000001	T	0.23926	0.0579	M	0.73598	2.24	0.54753	D	0.999987	D	0.76494	0.999	D	0.70227	0.968	T	0.00722	-1.1594	10	0.87932	D	0	-9.4893	9.1095	0.36718	0.0764:0.0:0.5305:0.3931	.	468	Q14566	MCM6_HUMAN	W	468	ENSP00000264156:R468W	ENSP00000264156:R468W	R	-	1	2	MCM6	136332005	1.000000	0.71417	0.975000	0.42487	0.965000	0.64279	2.518000	0.45537	0.738000	0.32606	0.561000	0.74099	CGG		TCGA-US-A774-01A-21D-A32N-08	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	0	0	0	6	734	0	122	0	1.491005e-01	0	70	0	122	2		0	0	0	0	0	2	1	0.963408	6	724	0	118	2		0	0	0	0	122	2	-1.905136	0	1	121412	1	38	1	1	2	3	2.015746	0	0.100000	2	0.108911	0.190000	0.070000	1.000000	0.160000	0.311491	0.190000	0	1.200000e-01	3.900000e-01
TPO	7173	broad.mit.edu	37	2	1480921	1480921	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:1480921G>A	ENST00000345913.4	+	8	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	TPO_ENST00000382198.1_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000382201.3_Missense_Mutation_p.A295T|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A295T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTTCGGCCGCCTGCGGCAC	0.706000																								0							SO:0001583	missense			ENST00000345913.4	1	1	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521755	0.44866	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.99	4.11	0.48088	.	0.223965	0.45606	D	0.000357	T	0.68696	0.3029	M	0.62154	1.92	0.80722	D	1	P;P;P	0.52692	0.955;0.885;0.906	P;B;P	0.47891	0.543;0.311;0.56	T	0.70174	-0.4944	10	0.45353	T	0.12	-20.3944	13.6977	0.62589	0.0756:0.0:0.9244:0.0	.	295;295;295	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	T	295;295;295;295;295;224	ENSP00000337263:A295T;ENSP00000318820:A295T;ENSP00000263886:A295T;ENSP00000329869:A295T;ENSP00000371636:A295T;ENSP00000405788:A224T	ENSP00000329869:A295T	A	+	1	0	TPO	1459928	0.326000	0.24669	0.607000	0.28956	0.013000	0.08279	3.117000	0.50407	1.089000	0.41292	0.460000	0.39030	GCC		TCGA-US-A774-01A-21D-A32N-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	0	10	106	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.996763	10	102	0	34	2		0	0	0	0	34	2	-15.499060	1	1	120874	1	26	1	1	2	3	2.027266	0	0.100000	2	0.111550	0.990000	0.910000	1.000000	1.000000	0.994513	0.990000	1	9.900000e-01	1
ACVR2A	92	broad.mit.edu	37	2	148657443	148657443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657443C>A	ENST00000241416.7	+	4	1140	c.504C>A	c.(502-504)taC>taA	p.Y168*	ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA			45					AGATGGCCTACCCTCCTGTAC	0.388000																								0							SO:0001587	stop_gained			ENST00000241416.7	0	1	hg19	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	39	7.653516	0.98412	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	.	.	.	5.22	0.915	0.19366	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6266	0.33892	0.0:0.4945:0.0:0.5055	.	.	.	.	X	168;60;168	.	ENSP00000241416:Y168X	Y	+	3	2	ACVR2A	148373913	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	0.268000	0.18571	0.174000	0.19809	0.585000	0.79938	TAC		TCGA-US-A774-01A-21D-A32N-08	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	0	0	0	20	526	0	119	1	4.246537e-01	2	36	0	119	2	1	9.996427e-01	20	535	1	757	5	1	0.999995	20	521	0	118	2		0	0	0	0	119	2	-3.561369	1	0	0	0		1	1	2	3	2.015746	0	0.100000	2	0.108911	0.780000	0.470000	1.000000	1.000000	0.792233	0.780000	0	6.100000e-01	1
ACVR2A	92	broad.mit.edu	37	2	148657447	148657447	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:148657447C>G	ENST00000241416.7	+	4	1144	c.508C>G	c.(508-510)Cct>Gct	p.P170A	ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA			45					GGCCTACCCTCCTGTACTTGT	0.383000																								0							SO:0001583	missense			ENST00000241416.7	1	1	hg19	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	9.819	1.185208	0.21870	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.83506	-1.73;-1.64;-1.73	5.22	5.22	0.72569	Protein kinase-like domain (1);	0.047266	0.85682	D	0.000000	T	0.73877	0.3643	L	0.31294	0.92	0.58432	D	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.67960	-0.5535	10	0.11182	T	0.66	.	17.333	0.87271	0.0:1.0:0.0:0.0	.	170	P27037	AVR2A_HUMAN	A	170;62;170	ENSP00000241416:P170A;ENSP00000439988:P62A;ENSP00000384338:P170A	ENSP00000241416:P170A	P	+	1	0	ACVR2A	148373917	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.550000	0.60733	2.608000	0.88229	0.585000	0.79938	CCT		TCGA-US-A774-01A-21D-A32N-08	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	0	0	0	19	512	0	113	1	3.897117e-01	2	34	0	113	2	1	9.999932e-01	20	527	0	742	2	1	0.999990	19	508	0	112	2		0	0	0	0	113	2	-3.382659	1	0	0	0		1	1	2	3	2.015746	0	0.100000	2	0.108911	0.760000	0.460000	1.000000	1.000000	0.779410	0.760000	0	5.900000e-01	1
DPP4	1803	broad.mit.edu	37	2	162875264	162875264	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:162875264C>T	ENST00000360534.3	-	16	1955	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	DPP4_ENST00000491591.1_5'Flank	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	p.A465A(2)		48				Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GATAATACTTCGCCTCTTTAC	0.473000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000360534.3	1	1	hg19	CCDS2216.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2	1	0	1	15	338	0	67	1	5.297326e-01	8	32	0	67	2		0	0	0	0	0	2	1	0.999880	15	338	0	67	2		0	0	0	0	67	2	-3.089797	1	1	0	0		1	1	2	3	2.015746	0	0.100000	2	0.108911	0.910000	0.520000	1.000000	1.000000	0.868360	0.910000	1	6.900000e-01	1
ITGA4	3676	broad.mit.edu	37	2	182358062	182358062	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:182358062C>T	ENST00000397033.2	+	11	1594	c.1164C>T	c.(1162-1164)atC>atT	p.I388I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)			58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)	Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGTTGCTATCGGAGCTCCAC	0.353000																								0							SO:0001819	synonymous_variant			ENST00000397033.2	1	1	hg19	CCDS42788.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1	0	0	0	8	356	0	64	0	9.747562e-02	0	21	0	64	2		0	0	0	0	0	2	1	0.988567	7	349	0	63	2		0	0	0	0	64	2	-2.732104	1	1	120802	3	36	1	1	2	3	2.015746	0	0.100000	2	0.108911	0.500000	0.220000	1.000000	0.440000	0.563271	0.500000	0	3.300000e-01	9.300000e-01
CEBPZ	10153	broad.mit.edu	37	2	37456107	37456107	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:37456107C>T	ENST00000234170.5	-	2	374	c.229G>A	c.(229-231)Gat>Aat	p.D77N	NDUFAF7_ENST00000336237.6_5'Flank|NDUFAF7_ENST00000002125.4_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta			28		all_hematologic(82;0.21)			TGAAGGTCATCGATTGCTCCT	0.358000																								0							SO:0001583	missense			ENST00000234170.5	0	1	hg19	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588983	0.66105	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02369	4.32;4.32	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.11024	0.0269	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.01988	-1.1234	10	0.87932	D	0	.	19.7248	0.96160	0.0:1.0:0.0:0.0	.	77	Q03701	CEBPZ_HUMAN	N	77;77;28	ENSP00000234170:D77N;ENSP00000391881:D28N	ENSP00000234170:D77N	D	-	1	0	CEBPZ	37309611	1.000000	0.71417	0.987000	0.45799	0.218000	0.24690	7.273000	0.78527	2.642000	0.89623	0.655000	0.94253	GAT		TCGA-US-A774-01A-21D-A32N-08	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2	1	0	1	8	169	0	20	1	6.351920e-01	9	36	0	20	2		0	0	0	0	0	2	1	0.988060	8	162	0	20	2		0	0	0	0	20	2	-3.690909	1	1	0	0		1	1	2	3	2.015746	0	0.100000	2	0.108911	0.990000	0.460000	1.000000	1.000000	0.880696	0.990000	1	6.800000e-01	1
PCGF1	84759	broad.mit.edu	37	2	74733907	74733907	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr2:74733907G>A	ENST00000233630.6	-	3	1215	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000603175.1_RNA|LBX2-AS1_ENST00000548978.2_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1			12					TGCATGACCCGGTCCAGTTTG	0.502000																								0							SO:0001583	missense			ENST00000233630.6	0	1	hg19	CCDS1946.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337545	0.81911	0.0	1.16E-4	ENSG00000115289	ENST00000233630	T	0.18502	2.21	5.69	4.82	0.62117	Zinc finger, RING/FYVE/PHD-type (1);	0.144062	0.47455	D	0.000222	T	0.43100	0.1232	M	0.82823	2.61	0.49483	D	0.999795	D	0.89917	1.0	D	0.83275	0.996	T	0.43956	-0.9359	10	0.87932	D	0	-14.6772	10.3893	0.44158	0.0894:0.0:0.9106:0.0	.	102	Q9BSM1	PCGF1_HUMAN	W	102	ENSP00000233630:R102W	ENSP00000233630:R102W	R	-	1	2	PCGF1	74587415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.207000	0.51106	1.413000	0.46997	0.655000	0.94253	CGG		TCGA-US-A774-01A-21D-A32N-08	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	0	0	0	6	458	0	74	0	4.041833e-01	0	95	0	74	2		0	0	0	0	0	2	1	0.963764	6	452	0	74	2		0	0	0	0	74	2	-2.540384	1	1	0	0		1	1	2	3	2.015746	0	0.100000	2	0.108911	0.300000	0.110000	1.000000	0.260000	0.404502	0.300000	0	1.900000e-01	6.200000e-01
CCDC80	151887	broad.mit.edu	37	3	112357638	112357638	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:112357638G>A	ENST00000206423.3	-	2	2068	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80			51					AGGTCTTGCAGCAACTGTTAC	0.642000																								0							SO:0001583	missense			ENST00000206423.3	0	1	hg19	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814389	0.70912	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.49139	0.79;0.79	4.89	4.89	0.63831	.	0.110597	0.64402	D	0.000007	T	0.36936	0.0985	L	0.27053	0.805	0.80722	D	1	B;P;B	0.41393	0.419;0.748;0.295	B;B;B	0.37650	0.187;0.255;0.091	T	0.16100	-1.0414	10	0.30078	T	0.28	-7.3048	18.2349	0.89946	0.0:0.0:1.0:0.0	.	383;372;372	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	V	372	ENSP00000206423:A372V;ENSP00000411814:A372V	ENSP00000206423:A372V	A	-	2	0	CCDC80	113840328	0.994000	0.37717	0.108000	0.21378	0.034000	0.12701	5.501000	0.66950	2.535000	0.85469	0.555000	0.69702	GCT		TCGA-US-A774-01A-21D-A32N-08	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	0	0	0	5	423	1	73	0	2.291097e-03	0	415	1	73	19		0	0	0	0	0	2	0	0.002046	5	404	1	72	19		0	0	0	1	73	2	-3.306992	1	1	0	0		1	0	0	0	1.974767	0	0.100000	2	0.082569	0.240000	0.090000	0.490000	0.220000	0.266677	0.240000	0	1.500000e-01	3.700000e-01
B3GNT5	84002	broad.mit.edu	37	3	182988349	182988349	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:182988349G>A	ENST00000326505.3	+	2	1293	c.763G>A	c.(763-765)Gga>Aga	p.G255R	MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5			8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		CTACACAGCCGGAGCTGCCTA	0.473000																								0							SO:0001583	missense			ENST00000326505.3	0	1	hg19	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767063	0.49574	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.68181	-0.31;-0.31;-0.31	5.91	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90542	0.4503	10	0.62326	D	0.03	.	15.1217	0.72450	0.0677:0.0:0.9323:0.0	.	255	Q9BYG0	B3GN5_HUMAN	R	255	ENSP00000316173:G255R;ENSP00000420778:G255R;ENSP00000417868:G255R	ENSP00000316173:G255R	G	+	1	0	B3GNT5	184471043	1.000000	0.71417	0.075000	0.20258	0.107000	0.19398	9.869000	0.99810	1.514000	0.48869	-0.145000	0.13849	GGA		TCGA-US-A774-01A-21D-A32N-08	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	0	0	0	4	263	0	54	0	1.375242e-01	0	34	0	54	2		0	0	0	0	0	2	1	0.887506	4	259	0	54	2		0	0	0	0	54	2	-3.671909	1	1	121412	2	35	1	1	2	3	2.109877	1	0.100000	2	0.130855	0.390000	0.120000	1.000000	0.300000	0.498858	0.390000	0	2.200000e-01	1
LPP	4026	broad.mit.edu	37	3	188592235	188592235	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:188592235G>T	ENST00000312675.4	+	11	2053	c.1807G>T	c.(1807-1809)Gtg>Ttg	p.V603L	LPP_ENST00000543006.1_Missense_Mutation_p.V603L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma		HMGA2/LPP(161)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)			CCGCATCAGGGTGTTGACCGC	0.512000			T	HMGA2, MLL, C12orf9	lipoma, leukemia										Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		L, M	0							SO:0001583	missense			ENST00000312675.4	1	1	hg19	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384829	0.61956	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.54675	0.56;0.56	5.79	4.92	0.64577	Zinc finger, LIM-type (1);	0.173178	0.51477	D	0.000096	T	0.41971	0.1182	L	0.29908	0.895	0.33682	D	0.612234	B;B	0.25955	0.003;0.138	B;B	0.25987	0.003;0.065	T	0.53012	-0.8498	10	0.37606	T	0.19	.	13.6926	0.62556	0.0737:0.0:0.9263:0.0	.	456;603	B7Z8W0;Q93052	.;LPP_HUMAN	L	603	ENSP00000318089:V603L;ENSP00000438891:V603L	ENSP00000318089:V603L	V	+	1	0	LPP	190074929	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	8.025000	0.88777	1.444000	0.47605	0.655000	0.94253	GTG		TCGA-US-A774-01A-21D-A32N-08	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	1	0	0	18	418	0	59	0	3.111652e-01	1	25	0	59	2		0	0	0	0	0	2	1	0.999981	18	414	0	59	2		0	0	0	0	59	2	-4.369263	1	1	0	0		1	1	2	3	2.109877	1	0.100000	2	0.130855	0.920000	0.540000	1.000000	1.000000	0.877981	0.920000	1	7.000000e-01	1
SCN11A	11280	broad.mit.edu	37	3	38913712	38913712	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:38913712C>T	ENST00000302328.3	-	20	3665	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit			119				Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGACAGCGCACGAAGAGGCCT	0.463000																								0							SO:0001583	missense			ENST00000302328.3	0	1	hg19	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691614	0.68271	0.0	1.16E-4	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.54	5.54	0.83059	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99369	0.9778	H	0.96833	3.89	0.40458	D	0.980215	D	0.89917	1.0	D	0.97110	1.0	D	0.98977	1.0803	10	0.87932	D	0	.	18.0499	0.89344	0.0:1.0:0.0:0.0	.	1156	Q9UI33	SCNBA_HUMAN	H	1156;1156;1118;1156	ENSP00000307599:R1156H;ENSP00000400945:R1156H;ENSP00000416757:R1118H;ENSP00000408028:R1156H	ENSP00000307599:R1156H	R	-	2	0	SCN11A	38888716	0.860000	0.29831	0.044000	0.18714	0.102000	0.19082	7.729000	0.84864	2.596000	0.87737	0.561000	0.74099	CGT		TCGA-US-A774-01A-21D-A32N-08	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	0	0	0	8	704	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	0.988911	8	696	0	107	2		0	0	0	0	109	2	-2.642222	1	1	121412	6	41	1	0	0	0	1.974767	0	0.100000	2	0.082569	0.220000	0.100000	0.410000	0.220000	0.243457	0.220000	0	1.500000e-01	3.200000e-01
RBM6	10180	broad.mit.edu	37	3	50095912	50095912	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:50095912A>G	ENST00000266022.4	+	10	2306	c.2047A>G	c.(2047-2049)Act>Gct	p.T683A	RBM6_ENST00000442092.1_Missense_Mutation_p.T161A|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000443081.1_Missense_Mutation_p.T551A	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6			33					TGTCCGCCTTACTACTGCCAA	0.498000																								0							SO:0001583	missense			ENST00000266022.4	1	1	hg19	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420772	0.42918	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.40476	1.27;1.27;1.27;1.03;1.27	5.71	4.51	0.55191	Nucleotide-binding, alpha-beta plait (1);	0.465551	0.23487	N	0.047660	T	0.16938	0.0407	N	0.03608	-0.345	0.22199	N	0.9993	B;B	0.26935	0.139;0.164	B;B	0.28465	0.042;0.09	T	0.12889	-1.0530	9	.	.	.	-3.4384	4.6373	0.12530	0.625:0.0:0.0942:0.2808	.	551;683	E9PGM9;P78332	.;RBM6_HUMAN	A	161;683;551;25;161	ENSP00000393530:T161A;ENSP00000266022:T683A;ENSP00000396466:T551A;ENSP00000443165:T25A;ENSP00000392939:T161A	.	T	+	1	0	RBM6	50070916	0.920000	0.31207	0.993000	0.49108	0.997000	0.91878	2.437000	0.44828	2.189000	0.69895	0.529000	0.55759	ACT		TCGA-US-A774-01A-21D-A32N-08	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	1	0	1	48	611	0	136	1	9.917471e-01	21	74	0	136	2		0	0	0	0	0	2	1	1.000000	48	612	0	134	2		0	0	0	0	136	2	-20.000000	1	1	0	0		1	0	0	0	1.974767	0	0.100000	2	0.082569	0.990000	0.990000	1.000000	1.000000	0.999511	0.990000	1	9.900000e-01	1
STAB1	23166	broad.mit.edu	37	3	52548769	52548769	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr3:52548769G>A	ENST00000321725.6	+	35	3807	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					GCCCCTGGCCGCTCGCTGATT	0.662000																								0							SO:0001583	missense			ENST00000321725.6	0	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551298	0.45383	.	.	ENSG00000010327	ENST00000321725	D	0.84944	-1.92	5.72	3.94	0.45596	FAS1 domain (3);	0.314687	0.33631	N	0.004717	T	0.69043	0.3067	N	0.22421	0.69	0.09310	N	1	P	0.45634	0.863	B	0.31016	0.123	T	0.62358	-0.6871	10	0.48119	T	0.1	-9.0658	8.7596	0.34667	0.162:0.0:0.838:0.0	.	1244	Q9NY15	STAB1_HUMAN	H	1244	ENSP00000312946:R1244H	ENSP00000312946:R1244H	R	+	2	0	STAB1	52523809	0.560000	0.26570	0.393000	0.26258	0.829000	0.46940	1.856000	0.39389	0.780000	0.33566	0.561000	0.74099	CGC		TCGA-US-A774-01A-21D-A32N-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	0	0	0	6	491	0	89	0	8.291077e-02	0	33	0	89	2		0	0	0	0	0	2	1	0.963606	6	484	0	87	2		0	0	0	0	89	2	-3.066380	1	1	121406	1	33	1	0	0	0	1.974767	0	0.100000	2	0.082569	0.250000	0.100000	0.480000	0.230000	0.269090	0.250000	0	1.600000e-01	3.600000e-01
BDH2	56898	broad.mit.edu	37	4	104000881	104000881	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:104000881A>G	ENST00000296424.4	-	10	836	c.716T>C	c.(715-717)aTt>aCt	p.I239T	SLC9B2_ENST00000339611.4_5'Flank|SLC9B2_ENST00000503230.1_5'Flank|SLC9B2_ENST00000394785.3_5'Flank	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2			10		Hepatocellular(203;0.217)			GCCTCCATCAATGATGACAGG	0.438000																								0							SO:0001583	missense			ENST00000296424.4	0	1	hg19	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392016	0.83011	.	.	ENSG00000164039	ENST00000296424	T	0.25414	1.8	5.31	5.31	0.75309	NAD(P)-binding domain (1);	0.232522	0.43579	D	0.000549	T	0.48333	0.1494	M	0.72624	2.21	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.51100	-0.8748	10	0.87932	D	0	.	13.0737	0.59075	1.0:0.0:0.0:0.0	.	239	Q9BUT1	BDH2_HUMAN	T	239	ENSP00000296424:I239T	ENSP00000296424:I239T	I	-	2	0	BDH2	104220330	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.861000	0.87004	2.130000	0.65690	0.477000	0.44152	ATT		TCGA-US-A774-01A-21D-A32N-08	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2	0	0	0	4	263	0	31	1	9.010234e-01	14	265	0	31	2		0	0	0	0	0	2	1	0.890188	4	262	0	31	2		0	0	0	0	31	2	-5.554130	1	1	0	0		1	1	2	3	2.026388	0	0.100000	2	0.111550	0.380000	0.120000	1.000000	0.290000	0.482223	0.380000	0	2.200000e-01	1
RRH	10692	broad.mit.edu	37	4	110756591	110756591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:110756591C>T	ENST00000317735.4	+	3	401	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog			12		Hepatocellular(203;0.217)			GGCTGTGGACCGATACCTGAC	0.393000																								0							SO:0001587	stop_gained			ENST00000317735.4	0	1	hg19	CCDS3687.1	.	.	.	.	.	.	.	.	.	.	C	34	5.341306	0.95783	.	.	ENSG00000180245	ENST00000317735	.	.	.	5.88	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1711	0.81817	0.1343:0.8657:0.0:0.0	.	.	.	.	X	123	.	ENSP00000314992:R123X	R	+	1	2	RRH	110976040	0.947000	0.32204	0.992000	0.48379	0.597000	0.36814	1.539000	0.36104	1.419000	0.47118	0.655000	0.94253	CGA		TCGA-US-A774-01A-21D-A32N-08	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	1	0	0	26	309	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	26	303	0	69	2		0	0	0	0	71	2	-2.619821	1	1	121412	6	40	1	1	2	3	2.026388	0	0.100000	2	0.111550	0.990000	0.990000	1.000000	1.000000	0.999255	0.990000	1	9.900000e-01	1
QDPR	5860	broad.mit.edu	37	4	17493886	17493886	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:17493886G>A	ENST00000281243.5	-	5	693	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron|QDPR_ENST00000508623.1_Intron	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase			13					GCCCCGGGCGGCATGCCGCTG	0.642000																								0							SO:0001583	missense			ENST00000281243.5	0	1	hg19	CCDS3421.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156614	0.78114	.	.	ENSG00000151552	ENST00000281243;ENST00000428702	D;D	0.94457	-3.43;-3.43	5.26	5.26	0.73747	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97707	0.9248	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.975	D	0.98210	1.0472	10	0.56958	D	0.05	-8.7527	17.6482	0.88154	0.0:0.0:1.0:0.0	.	141;172	B3KW71;P09417	.;DHPR_HUMAN	S	172;141	ENSP00000281243:P172S;ENSP00000390944:P141S	ENSP00000281243:P172S	P	-	1	0	QDPR	17102984	1.000000	0.71417	0.997000	0.53966	0.399000	0.30720	8.814000	0.91968	2.448000	0.82819	0.557000	0.71058	CCG		TCGA-US-A774-01A-21D-A32N-08	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250372.1	0	0	0	5	340	0	66	0	4.005050e-01	0	82	0	66	2		0	0	0	0	0	2	1	0.935062	5	334	0	59	2		0	0	0	0	66	2	-3.055119	1	1	0	0		1	0	0	0	1.913273	0	0.100000	2	0.052632	0.280000	0.110000	0.570000	0.260000	0.311395	0.280000	0	1.800000e-01	4.300000e-01
UGT2B28	54490	broad.mit.edu	37	4	70146857	70146857	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28			31					GGGTAAAAAACATGATCTATG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000335568.5	0	1	hg19	CCDS3528.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	0	0	0	7	297	1	49		0	0	0	1	49	2		0	0	0	0	0	2	0	0.011208	7	292	1	49	19		0	0	0	1	49	2	-3.536422	1	1	117472	45	45	1	1	2	3	2.026388	0	0.100000	2	0.111550	0.540000	0.220000	1.000000	0.470000	0.604138	0.540000	0	3.500000e-01	1
UGT2B28	54490	broad.mit.edu	37	4	70146870	70146870	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:70146870C>A	ENST00000335568.5	+	1	654	c.652C>A	c.(652-654)Ctt>Att	p.L218I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28			31					GATCTATGTGCTTTATTTTGA	0.348000																								0							SO:0001583	missense			ENST00000335568.5	0	1	hg19	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	5.407	0.260353	0.10239	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.72505	-0.66;-0.66	2.18	0.143	0.14820	.	0.335796	0.24254	U	0.040145	T	0.62332	0.2419	L	0.56769	1.78	0.09310	N	1	B;B	0.24368	0.102;0.031	B;B	0.32724	0.113;0.151	T	0.52946	-0.8507	10	0.36615	T	0.2	.	5.4611	0.16617	0.0:0.5448:0.0:0.4552	.	218;218	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	I	218	ENSP00000334276:L218I;ENSP00000427399:L218I	ENSP00000334276:L218I	L	+	1	0	UGT2B28	70181459	0.000000	0.05858	0.029000	0.17559	0.094000	0.18550	-1.487000	0.02310	-0.148000	0.11234	0.184000	0.17185	CTT		TCGA-US-A774-01A-21D-A32N-08	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	0	0	0	5	303	1	50		0	0	0	1	50	2		0	0	0	0	0	2	0	0.002303	3	298	1	50	19		0	0	0	1	50	2	-4.316248	1	0	117424	3	31	1	1	2	3	2.026388	0	0.100000	2	0.111550	0.400000	0.140000	1.000000	0.310000	0.495836	0.400000	0	2.400000e-01	1
TADA2B	93624	broad.mit.edu	37	4	7056454	7056454	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr4:7056454G>A	ENST00000310074.7	+	2	1125	c.936G>A	c.(934-936)cgG>cgA	p.R312R	TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	p.R312R(1)		18					AGGCAGCGCGGCATAAACGGG	0.557000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000310074.7	0	1	hg19	CCDS47007.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358687.2	0	0	0	5	318	0	49	0	3.130629e-01	0	62	0	49	2		0	0	0	0	0	2	1	0.935951	5	314	0	49	2		0	0	0	0	49	2	-2.822129	1	1	0	0		1	0	0	0	1.913273	0	0.100000	2	0.052632	0.300000	0.110000	0.610000	0.280000	0.331177	0.300000	0	1.900000e-01	4.500000e-01
PCDHGB4	8641	broad.mit.edu	37	5	140768992	140768992	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140768992C>T	ENST00000519479.1	+	1	1541	c.1541C>T	c.(1540-1542)gCg>gTg	p.A514V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4			37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GTGGTGTTCGCGCAGCGCGCC	0.667000																								0							SO:0001583	missense			ENST00000519479.1	0	1	hg19	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	35	5.443208	0.96187	.	.	ENSG00000253953	ENST00000519479	T	0.43294	0.95	4.95	4.95	0.65309	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54498	0.1862	L	0.31578	0.945	0.38208	D	0.940379	D;D	0.89917	0.994;1.0	P;D	0.79108	0.89;0.992	T	0.62364	-0.6870	9	0.87932	D	0	.	18.196	0.89822	0.0:1.0:0.0:0.0	.	514;514	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	514	ENSP00000428288:A514V	ENSP00000428288:A514V	A	+	2	0	PCDHGB4	140749176	0.314000	0.24563	1.000000	0.80357	0.974000	0.67602	1.731000	0.38135	2.446000	0.82766	0.563000	0.77884	GCG		TCGA-US-A774-01A-21D-A32N-08	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	0	0	0	13	491	0	102	0	6.567694e-02	0	15	0	102	2		0	0	0	0	0	2	1	0.999485	13	482	0	102	2		0	0	0	0	102	2	-11.397640	1	1	0	0		1	0	1	1	1.998511	0	0.100000	2	0.094112	0.520000	0.290000	0.820000	0.510000	0.539071	0.520000	0	3.900000e-01	6.700000e-01
PCDHGA10	56106	broad.mit.edu	37	5	140792948	140792948	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:140792948G>A	ENST00000398610.2	+	1	206	c.206G>A	c.(205-207)cGc>cAc	p.R69H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10			43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGCGGAGTCCGCATAGTCTCC	0.607000																								0							SO:0001583	missense			ENST00000398610.2	0	1	hg19	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	17.12	3.308170	0.60305	.	.	ENSG00000253846	ENST00000398610	T	0.38240	1.15	5.62	5.62	0.85841	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.54271	0.1848	M	0.93106	3.38	0.27629	N	0.9481	P;P	0.50710	0.923;0.938	B;P	0.47981	0.427;0.563	T	0.62048	-0.6936	9	0.48119	T	0.1	.	9.8976	0.41329	0.1519:0.0:0.8481:0.0	.	69;69	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	H	69	ENSP00000381611:R69H	ENSP00000381611:R69H	R	+	2	0	PCDHGA10	140773132	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.477000	0.66799	2.639000	0.89480	0.557000	0.71058	CGC		TCGA-US-A774-01A-21D-A32N-08	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	0	0	0	6	731	0	147	0	1.487040e-03	0	6	0	147	2		0	0	0	0	0	2	1	0.964470	6	727	0	145	2		0	0	0	0	147	2	-2.107876	0	1	0	0		1	0	1	1	1.998511	0	0.100000	2	0.094112	0.170000	0.060000	0.330000	0.160000	0.185758	0.170000	0	1.100000e-01	2.500000e-01
SPEF2	79925	broad.mit.edu	37	5	35793392	35793392	+	Silent	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:35793392G>A	ENST00000356031.3	+	32	4840	c.4686G>A	c.(4684-4686)aaG>aaA	p.K1562K	SPEF2_ENST00000303129.4_Silent_p.K359K|SPEF2_ENST00000440995.2_Silent_p.K1557K|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2			37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		AGAAGTTCAAGGCTGTGGATA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000356031.3	0	1	hg19	CCDS43309.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	0	0	0	8	316	0	56	0	8.442618e-04	0	2	0	56	2		0	0	0	0	0	2	1	0.989191	8	313	0	55	2		0	0	0	0	56	2	-3.247183	1	1	0	0		1	0	1	1	1.986159	0	0.100000	2	0.091368	0.500000	0.230000	0.880000	0.480000	0.529154	0.500000	0	3.500000e-01	6.900000e-01
ZCCHC9	84240	broad.mit.edu	37	5	80607084	80607084	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:80607084A>C	ENST00000254037.2	+	4	3838	c.683A>C	c.(682-684)gAa>gCa	p.E228A	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9			13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)			GATTGCCCTGAAAGTCAGAAT	0.413000																								0							SO:0001583	missense			ENST00000254037.2	0	1	hg19	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016841	0.75161	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.32	5.32	0.75619	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.149315	0.64402	D	0.000016	T	0.57636	0.2067	M	0.76838	2.35	0.58432	D	0.99999	B	0.34103	0.437	B	0.41666	0.363	T	0.62129	-0.6919	10	0.56958	D	0.05	-18.5656	15.2491	0.73529	1.0:0.0:0.0:0.0	.	228	Q8N567	ZCHC9_HUMAN	A	228	ENSP00000254037:E228A;ENSP00000385047:E228A;ENSP00000369546:E228A;ENSP00000412637:E228A	ENSP00000254037:E228A	E	+	2	0	ZCCHC9	80642840	1.000000	0.71417	0.020000	0.16555	0.983000	0.72400	5.943000	0.70211	2.153000	0.67306	0.528000	0.53228	GAA		TCGA-US-A774-01A-21D-A32N-08	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	0	0	0	6	1039	0	155	0	8.495965e-02	0	70	0	155	2		0	0	0	0	0	2	1	0.964475	6	1034	0	152	2		0	0	0	0	155	2	-4.196290	1	0	0	0		1	0	1	1	1.998511	0	0.100000	2	0.094112	0.120000	0.040000	0.240000	0.110000	0.131621	0.120000	0	7.000000e-02	1.800000e-01
NR2F1	7025	broad.mit.edu	37	5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1			21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)			CTGTCGGATGCGGCCCACATC	0.592000																								0							SO:0001583	missense			ENST00000327111.3	0	1	hg19	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761144	0.15914	.	.	ENSG00000175745	ENST00000327111	D	0.96365	-3.99	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.360994	0.30219	N	0.010135	D	0.90013	0.6882	N	0.02842	-0.48	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	D	0.84686	0.0720	10	0.16420	T	0.52	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	338	P10589	COT1_HUMAN	V	338	ENSP00000325819:A338V	ENSP00000325819:A338V	A	+	2	0	NR2F1	92955045	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	2.198000	0.42705	2.941000	0.99782	0.655000	0.94253	GCG		TCGA-US-A774-01A-21D-A32N-08	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	0	0	0	6	683	1	106	0	3.761570e-03	0	54	1	106	4		0	0	0	0	0	2	0	0.002372	6	672	1	104	21		0	0	0	1	106	2	-2.123779	0	1	0	0		1	0	1	1	1.998511	0	0.100000	2	0.094112	0.180000	0.070000	0.350000	0.170000	0.198479	0.180000	0	1.200000e-01	2.700000e-01
HIST1H3I	8354	broad.mit.edu	37	6	27839741	27839741	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:27839741A>C	ENST00000328488.2	-	1	358	c.353T>G	c.(352-354)gTc>gGc	p.V118G		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i			11					CATAATAGTGACGCGTTTGGC	0.567000																								0							SO:0001583	missense			ENST00000328488.2	1	1	hg19	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744292	0.49151	.	.	ENSG00000182572	ENST00000328488	T	0.50277	0.75	4.12	4.12	0.48240	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59910	-0.7365	6	0.87932	D	0	.	13.3331	0.60500	1.0:0.0:0.0:0.0	.	.	.	.	G	118	ENSP00000329554:V118G	ENSP00000329554:V118G	V	-	2	0	HIST1H3I	27947720	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	8.793000	0.91862	2.086000	0.62901	0.528000	0.53228	GTC		TCGA-US-A774-01A-21D-A32N-08	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	1	0	0	47	790	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1.000000	47	781	0	177	2		0	0	0	0	178	2	-20.000000	1	1	0	0		1	1	2	3	2.014510	0	0.100000	2	0.108911	0.990000	0.850000	1.000000	1.000000	0.987875	0.990000	1	9.900000e-01	1
TAP1	6890	broad.mit.edu	37	6	32820252	32820252	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr6:32820252C>T	ENST00000354258.4	-	2	967	c.806G>A	c.(805-807)gGc>gAc	p.G269D	PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank|TAP1_ENST00000425148.2_Missense_Mutation_p.G8D	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)			21				Lapatinib(DB01259)	AGTGAGGCGGCCCGTAAAGAA	0.507000																								0							SO:0001583	missense			ENST00000354258.4	0	1	hg19	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195941	0.78902	.	.	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91407	-2.84;-2.84	4.78	4.78	0.61160	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.870577	0.09721	N	0.764435	D	0.95592	0.8567	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94207	0.7455	10	0.87932	D	0	-17.1129	15.3702	0.74557	0.0:1.0:0.0:0.0	.	269	Q03518	TAP1_HUMAN	D	269;8	ENSP00000346206:G269D;ENSP00000401919:G8D	ENSP00000346206:G269D	G	-	2	0	TAP1	32928230	1.000000	0.71417	0.830000	0.32933	0.412000	0.31113	6.583000	0.74053	2.470000	0.83445	0.551000	0.68910	GGC		TCGA-US-A774-01A-21D-A32N-08	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	0	0	0	6	329	0	56	0	9.672154e-01	0	341	0	56	2		0	0	0	0	0	2	1	0.962637	6	321	0	56	2		0	0	0	0	56	2	-6.106004	1	0	0	0		1	1	5	6	1.993923	0	0.100000	2	0.250000	0.460000	0.190000	0.880000	0.430000	0.492787	0.460000	0	3.000000e-01	6.700000e-01
MUC17	140453	broad.mit.edu	37	7	100683951	100683951	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:100683951C>T	ENST00000306151.4	+	3	9318	c.9254C>T	c.(9253-9255)tCa>tTa	p.S3085L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	p.S3085*(1)		343	Lung NSC(181;0.136)|all_lung(186;0.182)				GAAGTCAGTTCATCTCCTACA	0.522000																								1	Substitution - Nonsense(1)						SO:0001583	missense			ENST00000306151.4	1	1	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	8.482	0.859960	0.17178	.	.	ENSG00000169876	ENST00000306151	T	0.02301	4.35	1.18	1.18	0.20946	.	.	.	.	.	T	0.02848	0.0085	L	0.29908	0.895	0.09310	N	1	P	0.48350	0.909	P	0.48704	0.587	T	0.51973	-0.8637	9	0.25106	T	0.35	.	8.4028	0.32597	0.0:1.0:0.0:0.0	.	3085	Q685J3	MUC17_HUMAN	L	3085	ENSP00000302716:S3085L	ENSP00000302716:S3085L	S	+	2	0	MUC17	100470671	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.146000	0.16180	0.986000	0.38683	0.121000	0.15741	TCA		TCGA-US-A774-01A-21D-A32N-08	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1	70	1296	0	268	1	3.928003e-01	14	12	0	268	2		0	0	0	0	0	2	1	1.000000	69	1281	0	266	2		0	0	0	0	268	2	-7.734039	1	1	121404	6	43	1	1	2	3	2.041249	0	0.100000	2	0.114609	0.990000	0.820000	1.000000	1.000000	0.978708	0.990000	1	9.400000e-01	1
RELN	5649	broad.mit.edu	37	7	103629780	103629780	+	Silent	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:103629780C>T	ENST00000428762.1	-	1	183	c.24G>A	c.(22-24)cgG>cgA	p.R8R	RELN_ENST00000343529.5_Silent_p.R8R|RELN_ENST00000424685.2_Silent_p.R8R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin			227					GGAAAGTCTGCCGGGCCCAGC	0.716000													NSCLC(146;835 1944 15585 22231 52158)											0							SO:0001819	synonymous_variant			ENST00000428762.1	0	1	hg19	CCDS47680.1																																																																																				TCGA-US-A774-01A-21D-A32N-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	0	0	4	114	0	35		0	0	0	0	35	2		0	0	0	0	1	2	1	0.883367	4	110	0	33	2		0	0	0	0	35	2	-7.441180	1	1	0	0		1	1	2	3	2.041249	0	0.100000	2	0.114609	0.860000	0.270000	1.000000	1.000000	0.786009	0.860000	1	4.900000e-01	1
ZNF277	11179	broad.mit.edu	37	7	111926929	111926929	+	Splice_Site	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr7:111926929C>T	ENST00000361822.3	+	2	222	c.93C>T	c.(91-93)gaC>gaT	p.D31D	RN7SKP187_ENST00000365536.1_RNA|ZNF277_ENST00000450657.1_Splice_Site_p.D31D|ZNF277_ENST00000421043.1_Splice_Site_p.D31D	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277			15					CTATTCCAGACAGTAAGGATT	0.408000																								0							SO:0001630	splice_region_variant			ENST00000361822.3	0	1	hg19	CCDS5755.2																																																																																				TCGA-US-A774-01A-21D-A32N-08	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	0	0	0	4	109	0	28	0	5.310108e-01	0	44	0	28	2		0	0	0	0	0	2	0	0.871241	0	105	0	27	2		0	0	0	0	28	2	-7.115757	1	0	0	0		1	1	2	3	2.041249	0	0.100000	2	0.114609	0.890000	0.280000	1.000000	1.000000	0.801062	0.890000	1	5.100000e-01	1
EGR3	1960	broad.mit.edu	37	8	22548167	22548167	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:22548167G>A	ENST00000317216.2	-	2	1340	c.983C>T	c.(982-984)aCg>aTg	p.T328M	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.T290M|EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3			10		Prostate(55;0.0421)|Breast(100;0.102)			CTTCTCGCCCGTATGAGTGCG	0.632000																								0							SO:0001583	missense			ENST00000317216.2	0	1	hg19	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098407	0.76870	.	.	ENSG00000179388	ENST00000317216;ENST00000522910;ENST00000435199	T;T	0.26373	1.74;1.74	5.62	5.62	0.85841	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57242	-0.7845	10	0.87932	D	0	-20.0694	17.1549	0.86788	0.0:0.0:1.0:0.0	.	290;328	E7EW38;Q06889	.;EGR3_HUMAN	M	328;290;169	ENSP00000318057:T328M;ENSP00000430310:T290M	ENSP00000318057:T328M	T	-	2	0	EGR3	22604112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.863000	0.99569	2.643000	0.89663	0.655000	0.94253	ACG		TCGA-US-A774-01A-21D-A32N-08	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	0	0	0	6	655	0	115	0	5.326939e-03	0	10	0	115	2		0	0	0	0	0	2	1	0.964427	7	650	0	115	2		0	0	0	0	115	2	-2.632552	1	1	0	0		1	1	2	3	2.031014	0	0.100000	2	0.112426	0.220000	0.080000	1.000000	0.180000	0.364217	0.220000	0	1.300000e-01	1
ST18	9705	broad.mit.edu	37	8	53028835	53028835	+	Splice_Site	SNP	C	C	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr8:53028835C>A	ENST00000276480.7	-	25	3686	c.3003G>T	c.(3001-3003)atG>atT	p.M1001I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger			85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)			TTGAACTTACCATCTGTGGAA	0.478000																								0							SO:0001630	splice_region_variant			ENST00000276480.7	0	1	hg19	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363299	0.95877	.	.	ENSG00000147488	ENST00000276480	T	0.49139	0.79	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.68317	2.08	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.67995	-0.5526	10	0.54805	T	0.06	-22.9673	20.0735	0.97734	0.0:1.0:0.0:0.0	.	1001	O60284	ST18_HUMAN	I	1001	ENSP00000276480:M1001I	ENSP00000276480:M1001I	M	-	3	0	ST18	53191388	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.764000	0.85297	2.745000	0.94114	0.655000	0.94253	ATG		TCGA-US-A774-01A-21D-A32N-08	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1	0	0	0	13	398	0	75	0	1.222280e-03	0	2	0	75	2		0	0	0	0	0	2	1	0.999535	12	397	0	74	2		0	0	0	0	75	2	-2.591336	1	1	0	0		1	1	2	3	2.031014	0	0.100000	2	0.112426	0.700000	0.370000	1.000000	1.000000	0.733840	0.700000	0	5.100000e-01	1
PTGES2	80142	broad.mit.edu	37	9	130885345	130885345	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:130885345C>T	ENST00000338961.6	-	5	1499	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Missense_Mutation_p.R61H	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2			4					GGTGGGCGTGCGGTACACATT	0.657000																								0							SO:0001583	missense			ENST00000338961.6	0	1	hg19	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837248	0.91117	0.0	1.16E-4	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.44482	0.92;0.92;0.92	5.42	3.52	0.40303	Glutathione S-transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.69877	-0.5026	10	0.62326	D	0.03	-7.5349	9.8637	0.41129	0.1372:0.789:0.0:0.0738	.	252	Q9H7Z7	PGES2_HUMAN	H	252;61;217	ENSP00000345341:R252H;ENSP00000277462:R61H;ENSP00000411378:R217H	ENSP00000277462:R61H	R	-	2	0	PTGES2	129925166	1.000000	0.71417	0.999000	0.59377	0.860000	0.49131	5.787000	0.69013	1.262000	0.44165	0.561000	0.74099	CGC		TCGA-US-A774-01A-21D-A32N-08	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1	0	0	0	5	354	0	72	0	8.398398e-01	0	239	0	72	2		0	0	0	0	0	2	1	0.935172	5	350	0	72	2		0	0	0	0	72	2	-4.475698	1	1	121408	2	32	1	1	2	3	2.017367	0	0.100000	2	0.109352	0.330000	0.120000	1.000000	0.280000	0.434120	0.330000	0	2.000000e-01	8.100000e-01
TAF1L	138474	broad.mit.edu	37	9	32632378	32632378	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chr9:32632378G>A	ENST00000242310.4	-	1	3289	c.3200C>T	c.(3199-3201)gCc>gTc	p.A1067V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	p.A1067V(1)		159			LUSC - Lung squamous cell carcinoma(29;0.0181)		TGATCCACGGGCAAATTTACT	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000242310.4	0	1	hg19	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750747	0.89753	.	.	ENSG00000122728	ENST00000242310	T	0.18810	2.19	0.479	0.479	0.16796	.	0.097880	0.64402	D	0.000001	T	0.41858	0.1177	M	0.82823	2.61	0.58432	D	0.999997	D	0.76494	0.999	D	0.76071	0.987	T	0.32241	-0.9914	10	0.72032	D	0.01	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1067	Q8IZX4	TAF1L_HUMAN	V	1067	ENSP00000418379:A1067V	ENSP00000418379:A1067V	A	-	2	0	TAF1L	32622378	1.000000	0.71417	0.997000	0.53966	0.891000	0.51852	5.867000	0.69597	0.507000	0.28148	0.195000	0.17529	GCC		TCGA-US-A774-01A-21D-A32N-08	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2	0	0	0	8	735	0	147		0	0	0	0	147	2		0	0	0	0	0	2	1	0.987691	8	709	0	146	2		0	0	0	0	147	2	-1.947784	0	1	0	0		1	1	2	3	2.014929	0	0.100000	2	0.108911	0.240000	0.100000	1.000000	0.220000	0.356355	0.240000	0	1.600000e-01	4.700000e-01
GPRASP2	114928	broad.mit.edu	37	X	101972217	101972217	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:101972217C>T	ENST00000535209.1	+	4	3251	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L|GPRASP2_ENST00000543253.1_Missense_Mutation_p.P807L			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2			30					AGTCTTGAGCCGCTTATTTCT	0.318000																								0							SO:0001583	missense			ENST00000535209.1	1	1	hg19	CCDS14501.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.349	1.065104	0.20067	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.28255	1.62;1.62;1.62	4.04	3.16	0.36331	Armadillo-type fold (1);	0.000000	0.41712	D	0.000830	T	0.48677	0.1513	M	0.65975	2.015	0.18873	N	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.27054	-1.0085	10	0.72032	D	0.01	-5.9426	8.0819	0.30750	0.2402:0.7598:0.0:0.0	.	807	Q96D09	GASP2_HUMAN	L	807	ENSP00000437872:P807L;ENSP00000437394:P807L;ENSP00000339057:P807L	ENSP00000339057:P807L	P	+	2	0	GPRASP2	101858873	0.860000	0.29831	0.078000	0.20375	0.454000	0.32378	2.912000	0.48782	1.042000	0.40150	0.513000	0.50165	CCG		TCGA-US-A774-01A-21D-A32N-08	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	0	0	0	23	818	0	135	0	8.468919e-02	0	17	0	135	2		0	0	0	0	0	2	1	0.999999	23	806	0	135	2		0	0	0	0	135	2	-2.479206	0	1	115108	8	42	1	0	1	1			0.100000	2	0.100000	0.540000	0.350000	0.790000	0.540000	0.563274	0.540000	0	4.400000e-01	6.700000e-01
FAM127B	26071	broad.mit.edu	37	X	134186027	134186027	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:134186027C>T	ENST00000370775.2	-	1	178	c.112G>A	c.(112-114)Gac>Aac	p.D38N	FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B			14	Acute lymphoblastic leukemia(192;0.000127)				GGGAGTCGGTCGGTATCTCCG	0.637000																								0							SO:0001583	missense			ENST00000370775.2	0	1	hg19	CCDS43998.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171400	0.38315	.	.	ENSG00000203950	ENST00000370775	T	0.31247	1.5	2.38	2.38	0.29361	.	0.509400	0.14388	U	0.322689	T	0.41305	0.1153	L	0.50333	1.59	0.27449	N	0.953491	D;D	0.76494	0.999;0.993	D;P	0.74023	0.982;0.619	T	0.18461	-1.0336	10	0.17369	T	0.5	.	7.511	0.27573	0.0:1.0:0.0:0.0	.	36;38	Q6IPB9;Q9BWD3	.;F127B_HUMAN	N	38	ENSP00000375267:D38N	ENSP00000375267:D38N	D	-	1	0	FAM127B	134013693	1.000000	0.71417	0.995000	0.50966	0.112000	0.19704	2.055000	0.41345	1.470000	0.48102	0.292000	0.19580	GAC		TCGA-US-A774-01A-21D-A32N-08	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058393.2	0	0	0	15	725	0	126	0	8.836530e-01	0	185	0	126	2		0	0	0	0	0	2	1	0.999851	15	711	0	125	2		0	0	0	0	126	2	-2.872008	1	1	121104	3	38	1	0	1	1			0.100000	2	0.100000	0.410000	0.230000	0.640000	0.400000	0.426017	0.410000	0	3.100000e-01	5.300000e-01
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A774-01A-21D-A32N-08	TCGA-US-A774-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab10fa94-b2a9-4edb-8047-9b949ad59060	0a9222a6-bcda-4169-afe6-015a10d017c5	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule			81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CTGATTGTCCGCAGTCAGGAT	0.617000																								0							SO:0001583	missense			ENST00000370060.1	0	1	hg19	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		TCGA-US-A774-01A-21D-A32N-08	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	0	0	0	6	494	0	97	0	3.171730e-03	0	6	0	97	2	0	5.411525e-01	0	373	1	450	5	1	0.964067	6	489	0	96	2		0	0	0	0	97	2	-2.239909	0	1	121410	2	34	1	0	1	1			0.100000	2	0.100000	0.250000	0.100000	0.490000	0.240000	0.273860	0.250000	0	1.600000e-01	3.700000e-01
