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
SAP130	79595	broad.mit.edu	37	2	128712656	128712656	+	Frame_Shift_Del	DEL	C	C	-	rs112429524		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:128712656delC	ENST00000259235.3	-	15	2428	c.2299delG	c.(2299-2301)gtgfs	p.V767fs	SAP130_ENST00000357702.5_Frame_Shift_Del_p.V802fs|SAP130_ENST00000259234.6_Frame_Shift_Del_p.V775fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa			45	Colorectal(110;0.1)				CTGCCACCCACAGTGACTGAT	0.532000																								0							SO:0001589	frameshift_variant			ENST00000259235.3	0	1	hg19	CCDS2153.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	1	0	0	38	487	0	64	0	4.638714e-01	0	21	0	64	2	0	0	0	0	0	0		1	1.000000	40	479	0	63	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.048955	0	0.110000	2.030000	0.126337	0.990000	0.980000	1.000000	1.000000	0.998180	0.990000	1	0.990000	1.000000
NBEAL1	65065	broad.mit.edu	37	2	204000806	204000807	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:204000806_204000807insTG	ENST00000449802.1	+	27	4466_4467	c.4133_4134insTG	c.(4132-4137)attgacfs	p.D1379fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1			37					CTCAGTGGAATTGACTCATGTG	0.436000																								0							SO:0001589	frameshift_variant			ENST00000449802.1	0	1	hg19	CCDS46495.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4	1	0	0	24	395	0	30	0	0	0	1	0	30	2	0	0	0	0	0	0		1	1.000000	25	395	0	30	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.046620	0	0.110000	2.030000	0.125866	0.990000	0.720000	1.000000	1.000000	0.963028	0.990000	1	0.890000	1.000000
EBF3	253738	broad.mit.edu	37	10	131665458	131665458	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:131665458G>C	ENST00000355311.5	-	10	1058	c.986C>G	c.(985-987)tCc>tGc	p.S329C	EBF3_ENST00000368648.3_Missense_Mutation_p.S320C			Q9H4W6	COE3_HUMAN	early B-cell factor 3			44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)			GGATTTGTAGGAGAGGGTCAC	0.577000																								0							SO:0001583	missense			ENST00000355311.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.8	4.459324	0.84317	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.46451	0.87;0.87	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.61887	0.2383	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	T	0.64989	-0.6277	10	0.87932	D	0	-19.8393	18.9221	0.92529	0.0:0.0:1.0:0.0	.	320	Q9H4W6-2	.	C	329;320	ENSP00000347463:S329C;ENSP00000357637:S320C	ENSP00000347463:S329C	S	-	2	0	EBF3	131555448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.716000	0.98752	2.632000	0.89209	0.655000	0.94253	TCC		TCGA-H6-A45N-01A-11D-A26I-08	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	0	0	0	6	228	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	0.965084	6	227	0	37	2		0	0	0	0	37	2	-7.391680	1	0	0	0		1	0	1	1	1.988170	0	0.110000	2.030000	0.103094	0.480000	0.200000	0.910000	0.450000	0.513621	0.480000	0	0.320000	0.690000
GAD2	2572	broad.mit.edu	37	10	26575376	26575376	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:26575376G>A	ENST00000376261.3	+	13	1842	c.1339G>A	c.(1339-1341)Gga>Aga	p.G447R	GAD2_ENST00000259271.3_Missense_Mutation_p.G447R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	p.G447R(2)		48					CTTACAGTGCGGACGCCACGT	0.433000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000376261.3	1	1	hg19	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704299	0.88924	0.0	1.16E-4	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.48201	0.82;0.82	4.98	4.98	0.66077	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88340	0.2974	10	0.87932	D	0	-14.4635	18.27	0.90065	0.0:0.0:1.0:0.0	.	447	Q05329	DCE2_HUMAN	R	447	ENSP00000365437:G447R;ENSP00000259271:G447R	ENSP00000259271:G447R	G	+	1	0	GAD2	26615382	1.000000	0.71417	0.955000	0.39395	0.790000	0.44656	9.476000	0.97823	2.306000	0.77630	0.655000	0.94253	GGA		TCGA-H6-A45N-01A-11D-A26I-08	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	0	0	16	423	0	46	0	2.856059e-02	0	7	0	46	2		0	0	0	0	0	2	1	0.999932	16	420	0	45	2		0	0	0	0	46	2	-2.448738	0	1	121412	2	36	1	0	1	1	1.981028	0	0.110000	2.030000	0.101101	0.660000	0.390000	1.000000	1.000000	0.677059	0.660000	0	0.510000	0.830000
MAT1A	4143	broad.mit.edu	37	10	82036258	82036258	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr10:82036258C>T	ENST00000372213.3	-	6	902	c.642G>A	c.(640-642)acG>acA	p.T214T	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha			26			Colorectal(32;0.229)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCTCCAGCGTGATGTCTT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000372213.3	1	1	hg19	CCDS7365.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	0	0	0	27	715	1	120	0	0	0	1	1	120	2		0	0	0	0	0	2	1	0.874695	26	709	1	120	20		0	0	0	1	120	2	-3.757071	1	1	121412	1	33	1	0	1	1	1.988170	0	0.110000	2.030000	0.103094	0.650000	0.440000	0.910000	0.650000	0.670570	0.650000	0	0.540000	0.790000
TRPC6	7225	broad.mit.edu	37	11	101362330	101362330	+	Missense_Mutation	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362330T>A	ENST00000344327.3	-	3	1509	c.1085A>T	c.(1084-1086)aAt>aTt	p.N362I	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.N362I|TRPC6_ENST00000532133.1_Missense_Mutation_p.N362I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6			55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)			ACGGCTGAGATTTGGGCGACC	0.428000													Colon(166;1315 1927 11094 12848 34731)											0							SO:0001583	missense			ENST00000344327.3	1	1	hg19	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786962	0.49997	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.65549	1.41;1.41;-0.16	6.14	5.02	0.67125	.	0.176574	0.56097	D	0.000023	T	0.62332	0.2419	L	0.50333	1.59	0.35279	D	0.781152	P;P	0.40578	0.677;0.722	P;P	0.50970	0.655;0.534	T	0.72523	-0.4267	10	0.66056	D	0.02	-6.7914	3.5277	0.07765	0.0:0.2969:0.0:0.7031	.	362;362	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	I	362	ENSP00000340913:N362I;ENSP00000435574:N362I;ENSP00000353687:N362I	ENSP00000340913:N362I	N	-	2	0	TRPC6	100867540	1.000000	0.71417	0.968000	0.41197	0.850000	0.48378	2.065000	0.41442	2.367000	0.80283	0.529000	0.55759	AAT		TCGA-H6-A45N-01A-11D-A26I-08	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	0	0	0	33	858	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	1.000000	33	845	0	70	2		0	0	0	0	71	2	-20.000000	1	1	0	0		1	0	1	1	1.986533	0	0.110000	2.030000	0.102596	0.660000	0.460000	0.900000	0.660000	0.679530	0.660000	0	0.560000	0.790000
TRPC6	7225	broad.mit.edu	37	11	101362468	101362468	+	Splice_Site	SNP	T	T	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:101362468T>A	ENST00000344327.3	-	3	1371	c.947A>T	c.(946-948)aAt>aTt	p.N316I	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Splice_Site_p.N316I|TRPC6_ENST00000532133.1_Splice_Site_p.N316I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6			55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)			TTTGTAGTCATTCTAGGAAAA	0.368000													Colon(166;1315 1927 11094 12848 34731)											0							SO:0001630	splice_region_variant			ENST00000344327.3	0	1	hg19	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263387	0.80358	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.61980	0.06;0.06;0.06	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80065	-0.1538	10	0.59425	D	0.04	-11.6271	16.806	0.85666	0.0:0.0:0.0:1.0	.	316;316	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	I	316	ENSP00000340913:N316I;ENSP00000435574:N316I;ENSP00000353687:N316I	ENSP00000340913:N316I	N	-	2	0	TRPC6	100867678	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.950000	0.87804	2.367000	0.80283	0.529000	0.55759	AAT		TCGA-H6-A45N-01A-11D-A26I-08	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	0	0	0	12	319	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	0.999110	12	316	0	25	2		0	0	0	0	25	2	-13.050570	1	1	0	0		1	0	1	1	1.986533	0	0.110000	2.030000	0.102596	0.660000	0.360000	1.000000	1.000000	0.679433	0.660000	0	0.490000	0.860000
MMP1	4312	broad.mit.edu	37	11	102668153	102668153	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:102668153C>T	ENST00000315274.6	-	2	251	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)			30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	Marimastat(DB00786)	TTCAATTTTTCAACCACTGGG	0.433000																								0							SO:0001583	missense			ENST00000315274.6	1	1	hg19	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387343	0.25031	.	.	ENSG00000196611	ENST00000315274	T	0.38240	1.15	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.186495	0.38058	N	0.001830	T	0.32615	0.0835	L	0.51853	1.615	0.35886	D	0.829282	B	0.19817	0.039	B	0.25140	0.058	T	0.27434	-1.0074	10	0.26408	T	0.33	.	10.6353	0.45560	0.0:0.7973:0.133:0.0696	.	62	P03956	MMP1_HUMAN	K	62	ENSP00000322788:E62K	ENSP00000322788:E62K	E	-	1	0	MMP1	102173363	0.566000	0.26618	0.796000	0.32109	0.615000	0.37417	1.787000	0.38704	2.884000	0.98904	0.655000	0.94253	GAA		TCGA-H6-A45N-01A-11D-A26I-08	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	1	0	1	28	546	0	49	1	9.844187e-01	30	100	0	49	2		0	0	0	0	0	2	1	1.000000	28	540	0	49	2		0	0	0	0	49	2	-5.048920	1	1	0	0		1	0	1	1	1.986533	0	0.110000	2.030000	0.102596	0.870000	0.590000	1.000000	1.000000	0.867533	0.870000	1	0.720000	1.000000
ATL3	25923	broad.mit.edu	37	11	63398868	63398868	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:63398868G>C	ENST00000398868.3	-	12	1459	c.1183C>G	c.(1183-1185)Ctg>Gtg	p.L395V	ATL3_ENST00000332645.4_Missense_Mutation_p.L422V|ATL3_ENST00000538786.1_Missense_Mutation_p.L377V	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3			11					AAATGGTCCAGAGCAAGTTGT	0.408000																								0							SO:0001583	missense			ENST00000398868.3	0	1	hg19	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	G	7.325	0.617751	0.14129	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.01821	4.62;4.62;4.62	5.41	2.14	0.27477	Guanylate-binding protein, C-terminal (3);	0.205916	0.42682	D	0.000665	T	0.01156	0.0038	N	0.16656	0.425	0.44036	D	0.996766	B	0.06786	0.001	B	0.22880	0.042	T	0.54323	-0.8311	10	0.14656	T	0.56	-9.5352	5.3927	0.16253	0.0828:0.1393:0.6348:0.143	.	395	Q6DD88	ATLA3_HUMAN	V	395;422;377	ENSP00000381844:L395V;ENSP00000329034:L422V;ENSP00000437593:L377V	ENSP00000329034:L422V	L	-	1	2	ATL3	63155444	0.006000	0.16342	1.000000	0.80357	0.961000	0.63080	0.057000	0.14279	1.273000	0.44346	0.655000	0.94253	CTG		TCGA-H6-A45N-01A-11D-A26I-08	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	0	0	0	9	454	0	49	0	9.055777e-02	1	21	0	49	2		0	0	0	0	0	2	1	0.994200	9	452	0	49	2		0	0	0	0	49	2	-3.263015	1	1	0	0		1	0	1	1	1.986533	0	0.110000	2.030000	0.102596	0.360000	0.170000	0.620000	0.350000	0.380468	0.360000	0	0.250000	0.490000
PPFIBP2	8495	broad.mit.edu	37	11	7618802	7618802	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr11:7618802C>T	ENST00000299492.4	+	5	772	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PPFIBP2_ENST00000533792.1_5'UTR|PPFIBP2_ENST00000528883.1_Silent_p.L16L	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)			32					TGAGTGTCCTCACAGACCAAG	0.512000																								0							SO:0001819	synonymous_variant			ENST00000299492.4	0	1	hg19	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310160	0.23821	.	.	ENSG00000166387	ENST00000524548	.	.	.	5.5	2.39	0.29439	.	.	.	.	.	T	0.52451	0.1735	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47341	-0.9125	4	.	.	.	-6.6607	5.1479	0.14994	0.1414:0.6167:0.1553:0.0866	.	.	.	.	L	83	.	.	S	+	2	0	PPFIBP2	7575378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.352000	0.34033	1.309000	0.44985	0.655000	0.94253	TCA		TCGA-H6-A45N-01A-11D-A26I-08	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	0	0	0	5	128	0	29	0	8.930749e-02	0	11	0	29	2		0	0	0	0	0	2	1	0.937519	5	127	0	29	2		0	0	0	0	29	2	-7.863672	1	1	0	0		1	0	1	1	1.988690	0	0.110000	2.030000	0.103094	0.700000	0.270000	1.000000	1.000000	0.710139	0.700000	0	0.450000	1.000000
OASL	8638	broad.mit.edu	37	12	121471375	121471375	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:121471375C>T	ENST00000257570.5	-	2	640	c.370G>A	c.(370-372)Gag>Aag	p.E124K	OASL_ENST00000339275.5_Missense_Mutation_p.E124K	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like			14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				CTCAGGTCCTCGAGCCCGAGG	0.577000													Colon(192;517 2041 31392 31913 39966)											0							SO:0001583	missense			ENST00000257570.5	0	1	hg19	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362354	0.24684	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.10192	2.9;2.9	4.67	-3.47	0.04753	.	.	.	.	.	T	0.08714	0.0216	M	0.64404	1.975	0.09310	N	1	B;B	0.24768	0.108;0.111	B;B	0.17433	0.018;0.008	T	0.44236	-0.9341	9	0.12103	T	0.63	0.0893	5.8603	0.18743	0.0:0.1968:0.4434:0.3599	.	124;124	Q15646-2;Q15646	.;OASL_HUMAN	K	124	ENSP00000257570:E124K;ENSP00000341125:E124K	ENSP00000257570:E124K	E	-	1	0	OASL	119955758	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.620000	0.00879	-0.768000	0.04626	-0.291000	0.09656	GAG		TCGA-H6-A45N-01A-11D-A26I-08	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	0	0	0	10	590	0	94	0	1.191242e-01	0	32	0	94	2		0	0	0	0	0	2	1	0.996867	10	588	0	94	2		0	0	0	0	94	2	-2.215800	0	1	121412	1	33	1	1	2	3	2.004033	0	0.110000	2.030000	0.116801	0.330000	0.160000	1.000000	0.300000	0.405282	0.330000	0	0.230000	0.500000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	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	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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-H6-A45N-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	5	92	0	10	0	6.845045e-02	0	7	0	10	2	1	9.999694e-01	36	601	0	380	2	1	0.939226	5	92	0	10	2	1	1	998	7014	0	10	2	-4.444013	1	1	0	0		1	1	2	3	2.004033	0	0.110000	2.030000	0.116801	0.990000	0.390000	1.000000	1.000000	0.871696	0.990000	1	0.650000	1.000000
VAC14	55697	broad.mit.edu	37	16	70814758	70814758	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr16:70814758G>A	ENST00000261776.5	-	9	1291	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)			33		Ovarian(137;0.0699)			CCTCTGCCCAGGTCTCAGCTC	0.612000																								0							SO:0001583	missense			ENST00000261776.5	1	1	hg19	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218622	0.39201	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.69	4.74	0.60224	Armadillo-type fold (1);	0.540041	0.19458	N	0.113776	T	0.41003	0.1140	L	0.40543	1.245	0.31982	N	0.605736	B	0.09022	0.002	B	0.06405	0.002	T	0.44390	-0.9331	9	0.24483	T	0.36	-0.7265	9.2593	0.37603	0.0739:0.0:0.7822:0.1439	.	344	Q08AM6	VAC14_HUMAN	L	344	.	ENSP00000261776:P344L	P	-	2	0	VAC14	69372259	0.968000	0.33430	0.008000	0.14137	0.008000	0.06430	1.662000	0.37418	1.414000	0.47017	0.561000	0.74099	CCT		TCGA-H6-A45N-01A-11D-A26I-08	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	1	0	1	17	182	0	26	1	8.769981e-01	6	36	0	26	2		0	0	0	0	0	2	1	0.999970	16	181	0	25	2		0	0	0	0	26	2	-19.999460	1	1	0	0		1	1	2	3	2.047018	0	0.110000	2.030000	0.126337	0.990000	0.990000	1.000000	1.000000	0.997523	0.990000	1	0.990000	1.000000
CACNG5	27091	broad.mit.edu	37	17	64881142	64881142	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:64881142A>G	ENST00000533854.1	+	6	850	c.613A>G	c.(613-615)Acc>Gcc	p.T205A	CACNG5_ENST00000307139.3_Missense_Mutation_p.T205A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5			24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		GAAGCGGTACACCGCGGAGGA	0.607000																								0							SO:0001583	missense			ENST00000533854.1	0	1	hg19	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	A	3.029	-0.200130	0.06219	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.42900	0.96;0.96	3.42	3.42	0.39159	.	.	.	.	.	T	0.14743	0.0356	N	0.02916	-0.46	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13602	-1.0503	9	0.06099	T	0.92	.	7.1109	0.25390	0.8954:0.0:0.1046:0.0	.	205	Q9UF02	CCG5_HUMAN	A	205	ENSP00000436836:T205A;ENSP00000303092:T205A	ENSP00000303092:T205A	T	+	1	0	CACNG5	62311604	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	4.519000	0.60517	1.815000	0.52974	0.491000	0.48974	ACC		TCGA-H6-A45N-01A-11D-A26I-08	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	0	0	0	7	325	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	0.980039	7	321	0	49	2		0	0	0	0	51	2	-7.685066	1	0	0	0		1	0	0	0	1.925154	0	0.110000	2.030000	0.071175	0.370000	0.160000	0.690000	0.360000	0.400896	0.370000	0	0.250000	0.530000
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	rs28934574		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr17:7577094G>C	ENST00000269305.4	-	8	1033	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282G|TP53_ENST00000420246.2_Missense_Mutation_p.R282G|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron	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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557000		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	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743784	0.69418	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89968	3.075	0.58432	D	0.999997	P;D;P;P	0.89917	0.826;1.0;0.856;0.483	P;D;P;P	0.79108	0.751;0.992;0.839;0.591	D	0.98579	1.0649	10	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	.	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	282;282;282;282;282;271;150	ENSP00000352610:R282G;ENSP00000269305:R282G;ENSP00000398846:R282G;ENSP00000391127:R282G;ENSP00000391478:R282G;ENSP00000425104:R150G	ENSP00000269305:R282G	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		TCGA-H6-A45N-01A-11D-A26I-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	76	256	0	28	1	9.998870e-01	14	34	0	28	2	1	1	332	1694	0	1173	2	1	1.000000	75	254	0	28	2		0	0	0	0	28	2	-4.067568	1	1	0	0		1	0	4	4	2.186706	1	0.110000	2.030000	0.198198	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PRKACA	5566	broad.mit.edu	37	19	14208284	14208284	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:14208284C>T	ENST00000308677.4	-	8	850	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PRKACA_ENST00000589994.1_Silent_p.K210K|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha			16					AGTCCACGGCCTTGTTGTAGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000308677.4	1	1	hg19	CCDS12304.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	1	0	0	22	323	0	72	1	9.610794e-01	10	71	0	72	2		0	0	0	0	0	2	1	0.999999	21	321	0	72	2		0	0	0	0	72	2	-20.000000	1	1	0	0		1	0	1	1	1.984457	0	0.110000	2.030000	0.102098	0.990000	0.740000	1.000000	1.000000	0.970321	0.990000	1	0.920000	1.000000
BCKDHA	593	broad.mit.edu	37	19	41928149	41928149	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:41928149G>A	ENST00000269980.2	+	6	1095	c.727G>A	c.(727-729)Gag>Aag	p.E243K	BCKDHA_ENST00000457836.2_Missense_Mutation_p.E221K|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000595085.1_Missense_Mutation_p.E277K|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide			10					GGCAGCCAGTGAGGGGGACGC	0.642000																								0							SO:0001583	missense			ENST00000269980.2	0	1	hg19	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	G	36	5.651384	0.96714	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	4.71	4.71	0.59529	Dehydrogenase, E1 component (1);	0.104998	0.64402	D	0.000006	D	0.98115	0.9378	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;0.999;1.0	D;P;D;D	0.74674	0.984;0.893;0.981;0.967	D	0.99066	1.0832	10	0.87932	D	0	-44.8836	16.5958	0.84796	0.0:0.0:1.0:0.0	.	221;243;243;277	B4DP47;Q59EI3;P12694;F5H5P2	.;.;ODBA_HUMAN;.	K	277;243;214;221;243	ENSP00000443246:E277K;ENSP00000269980:E243K;ENSP00000440345:E214K;ENSP00000416000:E221K	ENSP00000269980:E243K	E	+	1	0	BCKDHA;CTC-435M10.3	46619989	1.000000	0.71417	0.992000	0.48379	0.746000	0.42486	8.783000	0.91813	2.450000	0.82876	0.655000	0.94253	GAG		TCGA-H6-A45N-01A-11D-A26I-08	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	0	0	0	8	434	0	62	0	4.058640e-01	0	70	0	62	2		0	0	0	0	0	2	1	0.988798	8	427	0	61	2		0	0	0	0	62	2	-4.394039	1	0	0	0		1	1	2	3	2.070874	0	0.110000	2.030000	0.131029	0.400000	0.170000	1.000000	0.340000	0.521864	0.400000	0	0.260000	1.000000
ZNF224	7767	broad.mit.edu	37	19	44612263	44612263	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:44612263G>C	ENST00000336976.6	+	6	2204	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224			19		Prostate(69;0.0435)			GTGTAGAAAAGCCATACAAAT	0.448000																								0							SO:0001583	missense			ENST00000336976.6	1	1	hg19	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	12.05	1.822267	0.32237	.	.	ENSG00000186019	ENST00000336976	T	0.64085	-0.08	3.08	-3.07	0.05363	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62648	0.2445	L	0.46614	1.455	0.23851	N	0.996665	D	0.76494	0.999	P	0.60173	0.87	T	0.55560	-0.8122	9	0.72032	D	0.01	.	4.7512	0.13061	0.3991:0.0:0.454:0.147	.	650	Q9NZL3	ZN224_HUMAN	N	650	ENSP00000337368:K650N	ENSP00000337368:K650N	K	+	3	2	ZNF224	49304103	0.000000	0.05858	0.006000	0.13384	0.167000	0.22549	-2.564000	0.00918	-0.239000	0.09710	0.491000	0.48974	AAG		TCGA-H6-A45N-01A-11D-A26I-08	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1	0	0	0	21	589	0	86	0	2.404526e-01	0	26	0	86	2		0	0	0	0	0	2	1	0.999997	21	582	0	85	2		0	0	0	0	86	2	-3.731157	1	1	0	0		1	1	2	3	2.078682	0	0.110000	2.030000	0.132892	0.700000	0.420000	1.000000	0.640000	0.744377	0.700000	0	0.540000	1.000000
PPP1R12C	54776	broad.mit.edu	37	19	55607482	55607482	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:55607482G>A	ENST00000263433.3	-	8	1105	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R290W|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R364W	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C			22			BRCA - Breast invasive adenocarcinoma(297;0.209)		CCACCAGGCCGGCGCTCCTTG	0.652000																								0							SO:0001583	missense			ENST00000263433.3	1	1	hg19	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482775	0.63962	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.69306	-0.2;-0.22;-0.39	4.59	2.28	0.28536	.	0.915533	0.09111	N	0.847095	T	0.54822	0.1882	L	0.50333	1.59	0.32809	D	0.501195	B;B;B	0.33549	0.293;0.417;0.293	B;B;B	0.23716	0.012;0.048;0.021	T	0.59215	-0.7496	10	0.66056	D	0.02	.	5.3627	0.16098	0.0964:0.0:0.5419:0.3618	.	290;364;364	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	W	364;364;290	ENSP00000263433:R364W;ENSP00000365573:R364W;ENSP00000387833:R290W	ENSP00000263433:R364W	R	-	1	2	PPP1R12C	60299294	1.000000	0.71417	0.975000	0.42487	0.855000	0.48748	0.985000	0.29578	0.401000	0.25424	0.655000	0.94253	CGG		TCGA-H6-A45N-01A-11D-A26I-08	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	1	0	1	74	639	0	93	1	9.994806e-01	18	78	0	93	2		0	0	0	0	0	2	1	1.000000	74	626	0	93	2		0	0	0	0	93	2	-3.221883	1	1	121392	1	26	1	1	2	3	2.078682	0	0.110000	2.030000	0.132892	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZBTB45	84878	broad.mit.edu	37	19	59028970	59028970	+	Missense_Mutation	SNP	T	T	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:59028970T>C	ENST00000594051.1	-	2	551	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ZBTB45_ENST00000600990.1_Missense_Mutation_p.N24S|ZBTB45_ENST00000354590.3_Missense_Mutation_p.N24S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45			11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)			CCTCTGCCCATTGAGGGTCTC	0.612000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	NSCLC(164;1383 2017 5233 27540 46677)											0							SO:0001583	missense			ENST00000594051.1	1	1	hg19	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	t	17.95	3.514926	0.64634	.	.	ENSG00000119574	ENST00000354590	T	0.69806	-0.43	3.91	3.91	0.45181	BTB/POZ (1);BTB/POZ fold (2);	0.162750	0.39407	U	0.001372	T	0.76758	0.4032	M	0.70595	2.14	0.30376	N	0.782376	D	0.65815	0.995	P	0.62382	0.901	T	0.76691	-0.2866	10	0.87932	D	0	.	10.9818	0.47499	0.0:0.0:0.0:1.0	.	24	Q96K62	ZBT45_HUMAN	S	24	ENSP00000346603:N24S	ENSP00000346603:N24S	N	-	2	0	ZBTB45	63720782	1.000000	0.71417	0.953000	0.39169	0.750000	0.42670	4.312000	0.59154	1.557000	0.49525	0.254000	0.18369	AAT		TCGA-H6-A45N-01A-11D-A26I-08	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	1	0	0	30	299	0	57	1	5.902484e-01	7	14	0	57	2		0	0	0	0	0	2	1	1.000000	30	294	0	56	2		0	0	0	0	57	2	-20.000000	1	1	121410	1	29	1	1	2	3	2.078682	0	0.110000	2.030000	0.132892	0.990000	0.990000	1.000000	1.000000	0.999884	0.990000	1	0.990000	1.000000
RANBP3	8498	broad.mit.edu	37	19	5931417	5931417	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr19:5931417C>T	ENST00000340578.6	-	8	748	c.691G>A	c.(691-693)Gag>Aag	p.E231K	RANBP3_ENST00000034275.8_Missense_Mutation_p.E163K|RANBP3_ENST00000439268.2_Intron|RANBP3_ENST00000541471.1_Missense_Mutation_p.E103K|RANBP3_ENST00000591124.1_5'Flank|RANBP3_ENST00000591092.1_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3			18					CCACTGACCTCAAGTGCACAC	0.647000																								0							SO:0001583	missense			ENST00000340578.6	0	1	hg19	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028634	0.08054	.	.	ENSG00000031823	ENST00000340578;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T	0.29655	1.56;2.31;1.57	5.09	5.09	0.68999	.	0.447428	0.23254	N	0.050220	T	0.18923	0.0454	N	0.12182	0.205	0.80722	D	1	P;P;P	0.40534	0.72;0.59;0.598	B;B;B	0.43536	0.423;0.423;0.243	T	0.02705	-1.1121	10	0.02654	T	1	-31.6799	14.2449	0.65981	0.0:1.0:0.0:0.0	.	103;163;231	F5H4C2;Q9H6Z4-3;Q9H6Z4	.;.;RANB3_HUMAN	K	231;163;162;103	ENSP00000341483:E231K;ENSP00000034275:E163K;ENSP00000445071:E103K	ENSP00000034275:E163K	E	-	1	0	RANBP3	5882417	0.973000	0.33851	0.966000	0.40874	0.055000	0.15305	3.054000	0.49908	2.820000	0.97059	0.650000	0.86243	GAG		TCGA-H6-A45N-01A-11D-A26I-08	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	0	0	0	8	222	0	43	1	3.356616e-01	4	27	0	43	2		0	0	0	0	0	2	1	0.989548	8	221	0	42	2		0	0	0	0	43	2	-9.685932	1	1	0	0		1	0	1	1	1.984457	0	0.110000	2.030000	0.102098	0.640000	0.300000	1.000000	1.000000	0.662054	0.640000	0	0.450000	0.880000
RPRD2	23248	broad.mit.edu	37	1	150444672	150444672	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:150444672C>G	ENST00000369068.4	+	11	3252	c.3248C>G	c.(3247-3249)gCc>gGc	p.A1083G	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.A1057G	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2			37					GAAAAGGGGGCCCCTATAGAA	0.532000																								0							SO:0001583	missense			ENST00000369068.4	1	1	hg19	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987202	0.53934	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.56275	0.47;0.48	5.03	4.11	0.48088	.	0.071687	0.56097	D	0.000029	T	0.38134	0.1029	N	0.24115	0.695	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.53224	0.53;0.721	T	0.45818	-0.9235	10	0.87932	D	0	-10.3322	12.9366	0.58319	0.0:0.9213:0.0:0.0787	.	1083;1057	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	G	1057;1083	ENSP00000383785:A1057G;ENSP00000358064:A1083G	ENSP00000358064:A1083G	A	+	2	0	RPRD2	148711296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.014000	0.64029	1.328000	0.45358	0.655000	0.94253	GCC		TCGA-H6-A45N-01A-11D-A26I-08	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	1	0	0	33	365	0	58	0	6.310998e-01	1	24	0	58	2		0	0	0	0	0	2	1	1.000000	33	361	0	56	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	1	2	3	2.091038	0	0.110000	2.030000	0.135209	0.990000	0.990000	1.000000	1.000000	0.999684	0.990000	1	0.990000	1.000000
CD5L	922	broad.mit.edu	37	1	157805907	157805907	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:157805907G>A	ENST00000368174.4	-	3	190	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like			52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)		CCTTCACAGCGGTGGAGGCCC	0.617000																								0							SO:0001583	missense			ENST00000368174.4	1	1	hg19	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823367	0.50739	.	.	ENSG00000073754	ENST00000368174	T	0.37058	1.22	4.85	2.81	0.32909	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.150671	0.31312	N	0.007862	T	0.56396	0.1982	M	0.92219	3.285	0.35417	D	0.792925	D	0.89917	1.0	D	0.72075	0.976	T	0.68096	-0.5499	10	0.62326	D	0.03	.	11.5219	0.50555	0.0:0.0:0.6787:0.3213	.	32	O43866	CD5L_HUMAN	C	32	ENSP00000357156:R32C	ENSP00000357156:R32C	R	-	1	0	CD5L	156072531	0.000000	0.05858	0.555000	0.28281	0.326000	0.28443	-0.366000	0.07563	1.198000	0.43158	0.563000	0.77884	CGC		TCGA-H6-A45N-01A-11D-A26I-08	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	1	0	0	32	732	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	1.000000	32	715	0	77	2		0	0	0	0	78	2	-3.022063	1	1	0	0		1	1	2	3	2.091038	0	0.110000	2.030000	0.135209	0.840000	0.560000	1.000000	1.000000	0.843546	0.840000	0	0.680000	1.000000
BEND5	79656	broad.mit.edu	37	1	49208355	49208355	+	Silent	SNP	C	C	T	rs143430976		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:49208355C>T	ENST00000371833.3	-	4	920	c.834G>A	c.(832-834)acG>acA	p.T278T	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5			8					AATAGGACGACGTATTTGCTT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000371833.3	1	1	hg19	CCDS552.2																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022323.1	0	0	0	19	567	0	93	0	5.323251e-02	0	11	0	93	2		0	0	0	0	0	2	1	0.999991	19	566	0	93	2		0	0	0	0	93	2	-3.129055	1	1	121412	3	38	1	0	1	1	1.992166	0	0.110000	2.030000	0.104087	0.580000	0.360000	0.870000	0.580000	0.605051	0.580000	0	0.460000	0.730000
ZCCHC11	23318	broad.mit.edu	37	1	52940826	52940826	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr1:52940826G>A	ENST00000371544.3	-	13	2667	c.2405C>T	c.(2404-2406)aCc>aTc	p.T802I	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T802I|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11			58					GCTTTTGCTGGTAGAAAGAGA	0.363000																								0							SO:0001583	missense			ENST00000371544.3	1	1	hg19	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	8.144	0.785809	0.16189	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.46063	0.89;0.89;0.88;0.88	5.49	4.54	0.55810	.	1.017500	0.07834	N	0.961803	T	0.34716	0.0907	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.14023	0.008;0.01	T	0.02437	-1.1159	10	0.33141	T	0.24	.	15.6404	0.76997	0.0:0.0:0.862:0.138	.	561;802	E9PKX1;Q5TAX3	.;TUT4_HUMAN	I	802;802;731;561	ENSP00000257177:T802I;ENSP00000360599:T802I;ENSP00000433486:T731I;ENSP00000435256:T561I	ENSP00000257177:T802I	T	-	2	0	ZCCHC11	52713414	0.890000	0.30428	1.000000	0.80357	0.288000	0.27193	3.391000	0.52530	2.570000	0.86706	0.557000	0.71058	ACC		TCGA-H6-A45N-01A-11D-A26I-08	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	1	0	0	39	864	0	75	0	9.696337e-02	0	12	0	75	2		0	0	0	0	0	2	1	1.000000	39	860	0	74	2		0	0	0	0	75	2	-4.880996	1	1	0	0		1	0	1	1	1.992166	0	0.110000	2.030000	0.104087	0.770000	0.560000	1.000000	1.000000	0.787600	0.770000	0	0.660000	0.910000
CEP250	11190	broad.mit.edu	37	20	34090746	34090746	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:34090746C>T	ENST00000397527.1	+	30	5269	c.4549C>T	c.(4549-4551)Cgg>Tgg	p.R1517W	CEP250_ENST00000342580.4_Missense_Mutation_p.R1461W	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa			45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)		CGAGAAGGATCGGGAGACTCA	0.512000																								0							SO:0001583	missense			ENST00000397527.1	1	1	hg19	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012870	0.54468	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50001	2.74;2.74;0.76	4.63	4.63	0.57726	.	0.701912	0.12939	N	0.426736	T	0.66906	0.2837	M	0.81497	2.545	0.09310	N	1	D	0.71674	0.998	P	0.56916	0.809	T	0.61544	-0.7041	10	0.72032	D	0.01	.	16.2304	0.82332	0.0:1.0:0.0:0.0	.	1517	Q9BV73	CP250_HUMAN	W	1517;1461;5	ENSP00000380661:R1517W;ENSP00000341541:R1461W;ENSP00000395992:R5W	ENSP00000341541:R1461W	R	+	1	2	CEP250	33554160	0.001000	0.12720	0.463000	0.27130	0.698000	0.40448	1.499000	0.35671	2.420000	0.82092	0.561000	0.74099	CGG		TCGA-H6-A45N-01A-11D-A26I-08	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	0	0	0	14	392	0	72	0	2.751882e-01	0	28	0	72	2		0	0	0	0	0	2	1	0.999734	14	385	0	71	2		0	0	0	0	72	2	-3.182996	1	1	121412	1	29	1	1	2	3	2.025043	0	0.110000	2.030000	0.121118	0.690000	0.370000	1.000000	1.000000	0.718883	0.690000	0	0.510000	1.000000
CDH22	64405	broad.mit.edu	37	20	44856262	44856262	+	Silent	SNP	C	C	T	rs148516074		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:44856262C>T	ENST00000372262.3	-	3	955	c.555G>A	c.(553-555)acG>acA	p.T185T	CDH22_ENST00000537909.1_Silent_p.T185T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2			44		Myeloproliferative disorder(115;0.0122)			GCATCACCGACGTGCCTGGGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000372262.3	1	1	hg19	CCDS13395.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	1	0	0	8	124	0	25	0	2.678063e-01	0	15	0	25	2		0	0	0	0	0	2	1	0.989099	8	121	0	25	2		0	0	0	0	25	2	-11.890100	1	1	121246	1	29	1	1	2	3	2.025043	0	0.110000	2.030000	0.121118	0.990000	0.560000	1.000000	1.000000	0.940271	0.990000	1	0.830000	1.000000
CASS4	57091	broad.mit.edu	37	20	55033728	55033728	+	Silent	SNP	C	C	T	rs112583744		TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr20:55033728C>T	ENST00000360314.3	+	7	2511	c.2286C>T	c.(2284-2286)gcC>gcT	p.A762A	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Silent_p.A762A|CASS4_ENST00000434344.1_Silent_p.A325A	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4			54					CCAGCCCTGCCGCGCTGGGGC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000360314.3	0	1	hg19	CCDS33492.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	0	7	153	0	19	0	1.506310e-02	0	4	0	19	2		0	0	0	0	0	2	1	0.981350	8	152	0	19	2		0	0	0	0	19	2	-10.006480	1	1	121398	10	40	1	1	2	3	2.025043	0	0.110000	2.030000	0.121118	0.900000	0.390000	1.000000	1.000000	0.834200	0.900000	1	0.600000	1.000000
CACNA1I	8911	broad.mit.edu	37	22	40061961	40061961	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr22:40061961G>A	ENST00000402142.3	+	23	4054	c.4054G>A	c.(4054-4056)Gcc>Acc	p.A1352T	CACNA1I_ENST00000400164.3_Missense_Mutation_p.A1317T|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A1317T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A1352T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A1358T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.A1317T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCATGGCCGCCAACTACCG	0.597000																								0							SO:0001583	missense			ENST00000402142.3	1	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371351	0.95923	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	N	0.25144	0.715	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.997	D	0.99870	1.1095	10	0.72032	D	0.01	.	16.7468	0.85474	0.0:0.0:1.0:0.0	.	1317;1352;1317;1352	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	T	1352;1317;1352;1317;1358;1317	ENSP00000385019:A1352T;ENSP00000384093:A1317T;ENSP00000383887:A1352T;ENSP00000385680:A1317T;ENSP00000337829:A1358T;ENSP00000383028:A1317T	ENSP00000337829:A1358T	A	+	1	0	CACNA1I	38391907	1.000000	0.71417	0.942000	0.38095	0.990000	0.78478	9.749000	0.98871	1.915000	0.55452	0.462000	0.41574	GCC		TCGA-H6-A45N-01A-11D-A26I-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	1	0	0	18	370	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	0.999982	18	368	0	83	2		0	0	0	0	84	2	-2.590710	1	1	121182	1	30	1	0	0	0	1.935226	0	0.110000	2.030000	0.076476	0.800000	0.490000	1.000000	1.000000	0.806166	0.800000	0	0.630000	1.000000
KCNH7	90134	broad.mit.edu	37	2	163302689	163302689	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:163302689C>T	ENST00000332142.5	-	7	1492	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N	KCNH7_ENST00000328032.4_Missense_Mutation_p.D458N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7			108				Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATTAAAATATCTATGATAAAC	0.363000													GBM(196;1492 2208 17507 24132 45496)											0							SO:0001583	missense			ENST00000332142.5	1	1	hg19	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297171	0.95574	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98120	-4.73;-4.73	5.85	5.85	0.93711	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.99402	1.0928	10	0.87932	D	0	.	20.1606	0.98132	0.0:1.0:0.0:0.0	.	458;465	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	N	465;458	ENSP00000331727:D465N;ENSP00000333781:D458N	ENSP00000333781:D458N	D	-	1	0	KCNH7	163010935	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.772000	0.95346	0.650000	0.86243	GAT		TCGA-H6-A45N-01A-11D-A26I-08	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	1	0	0	13	320	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.999531	13	317	0	39	2		0	0	0	0	39	2	-13.910770	1	1	0	0		1	1	2	3	2.048955	0	0.110000	2.030000	0.126337	0.800000	0.420000	1.000000	1.000000	0.799446	0.800000	0	0.580000	1.000000
MYL1	4632	broad.mit.edu	37	2	211179819	211179819	+	Translation_Start_Site	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:211179819C>A	ENST00000352451.3	-	0	95					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast			16					CCAAAAGAACCTGTCAAAATG	0.463000																								0											ENST00000352451.3	0	1	hg19	CCDS2390.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	0	0	0	37	986	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	37	973	0	65	2		0	0	0	0	65	2	-2.717127	1	1	0	0		1	1	2	3	2.046620	0	0.110000	2.030000	0.125866	0.700000	0.480000	1.000000	0.670000	0.749400	0.700000	0	0.580000	1.000000
FN1	2335	broad.mit.edu	37	2	216263993	216263993	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:216263993C>T	ENST00000359671.1	-	21	3600	c.3335G>A	c.(3334-3336)aGa>aAa	p.R1112K	FN1_ENST00000357867.4_Missense_Mutation_p.R1112K|FN1_ENST00000345488.5_Missense_Mutation_p.R1112K|FN1_ENST00000336916.4_Missense_Mutation_p.R1112K|FN1_ENST00000432072.2_Missense_Mutation_p.R1112K|FN1_ENST00000446046.1_Missense_Mutation_p.R1112K|FN1_ENST00000357009.2_Missense_Mutation_p.R1112K|FN1_ENST00000346544.3_Missense_Mutation_p.R1112K|FN1_ENST00000356005.4_Missense_Mutation_p.R1112K|FN1_ENST00000323926.6_Missense_Mutation_p.R1112K|FN1_ENST00000421182.1_Missense_Mutation_p.R1112K|FN1_ENST00000354785.4_Missense_Mutation_p.R1112K|FN1_ENST00000443816.1_Missense_Mutation_p.R1112K			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	AAAACCAATTCTTGGAGCAGG	0.493000																								0							SO:0001583	missense			ENST00000359671.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.6	4.019242	0.75275	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	L	0.37630	1.12	0.50813	D	0.999892	D;B;P;D;D;B;D;P;D;P	0.65815	0.974;0.16;0.542;0.974;0.962;0.289;0.995;0.953;0.974;0.947	D;B;P;D;D;B;D;D;D;D	0.83275	0.977;0.132;0.493;0.977;0.987;0.279;0.996;0.977;0.977;0.977	T	0.56159	-0.8025	10	0.21540	T	0.41	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	1112;1112;1112;1112;1112;1112;1112;1112;1112;1112	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	K	1112	ENSP00000394423:R1112K;ENSP00000323534:R1112K;ENSP00000338200:R1112K;ENSP00000350534:R1112K;ENSP00000346839:R1112K;ENSP00000352696:R1112K;ENSP00000265312:R1112K;ENSP00000273049:R1112K;ENSP00000349509:R1112K;ENSP00000410422:R1112K;ENSP00000415018:R1112K;ENSP00000399538:R1112K;ENSP00000348285:R1112K	ENSP00000265313:R1112K	R	-	2	0	FN1	215972238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.928000	0.63447	2.716000	0.92895	0.655000	0.94253	AGA		TCGA-H6-A45N-01A-11D-A26I-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		0	0	0	13	502	0	70	1	9.994373e-01	8	492	0	70	2		0	0	0	0	0	2	1	0.999493	13	494	0	70	2		0	0	0	0	70	2	-11.158620	1	1	0	0		1	1	2	3	2.046620	0	0.110000	2.030000	0.125866	0.520000	0.270000	1.000000	0.470000	0.602323	0.520000	0	0.370000	1.000000
PRKAG3	53632	broad.mit.edu	37	2	219694941	219694941	+	Missense_Mutation	SNP	A	A	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:219694941A>T	ENST00000529249.1	-	4	708	c.393T>A	c.(391-393)gaT>gaA	p.D131E	PRKAG3_ENST00000545803.1_5'UTR|PRKAG3_ENST00000439262.2_Missense_Mutation_p.D106E|PRKAG3_ENST00000392098.3_Missense_Mutation_p.D131E			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit			20		Renal(207;0.0474)		Acetylsalicylic acid(DB00945)	GCTCCACATCATCTGTGCTGG	0.647000																								0							SO:0001583	missense			ENST00000529249.1	1	1	hg19	CCDS2424.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006801	0.74932	.	.	ENSG00000115592	ENST00000439262;ENST00000529249;ENST00000392098	T;D;T	0.81499	-1.49;-1.5;0.32	5.5	-3.3	0.05003	.	1.207880	0.05931	N	0.635284	T	0.73481	0.3592	L	0.29908	0.895	0.09310	N	1	D;B;B	0.63046	0.992;0.287;0.189	P;B;B	0.51385	0.668;0.143;0.107	T	0.64271	-0.6447	10	0.24483	T	0.36	-9.8613	6.8052	0.23774	0.4716:0.1295:0.3988:0.0	.	131;106;131	B4DUK8;Q9UGI9-2;Q9UGI9	.;.;AAKG3_HUMAN	E	106;131;131	ENSP00000397133:D106E;ENSP00000436068:D131E;ENSP00000375947:D131E	ENSP00000233944:D131E	D	-	3	2	PRKAG3	219403185	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.591000	0.05753	-0.504000	0.06577	0.533000	0.62120	GAT		TCGA-H6-A45N-01A-11D-A26I-08	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	0	0	0	7	272	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.980973	7	272	0	35	2		0	0	0	0	36	2	-8.884430	1	1	0	0		1	1	2	3	2.046620	0	0.110000	2.030000	0.125866	0.550000	0.220000	1.000000	0.450000	0.616767	0.550000	0	0.350000	1.000000
C2orf71	388939	broad.mit.edu	37	2	29296606	29296606	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr2:29296606C>T	ENST00000331664.5	-	1	521	c.522G>A	c.(520-522)gtG>gtA	p.V174V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71			60					CCGGGAAGTCCACTTTGCCTT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000331664.5	1	1	hg19	CCDS42669.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	0	0	0	16	498	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.999935	16	498	0	52	2		0	0	0	0	53	2	-3.025233	1	1	0	0		1	1	2	3	2.048955	0	0.110000	2.030000	0.126337	0.630000	0.350000	1.000000	0.570000	0.687827	0.630000	0	0.470000	1.000000
TPRG1	285386	broad.mit.edu	37	3	188933150	188933150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr3:188933150C>T	ENST00000345063.3	+	3	447	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.Q94*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1			16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)		AGAGACCATTCAAGGCTTCTG	0.483000																								0							SO:0001587	stop_gained			ENST00000345063.3	0	1	hg19	CCDS3292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844383|4.844383	0.91197|0.91197	.|.	.|.	ENSG00000188001|ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832|ENST00000425670	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.205984|.	0.52532|.	D|.	0.000067|.	.|T	.|0.65821	.|0.2728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69698	.|-0.5075	.|3	0.44086|.	T|.	0.13|.	-8.88|-8.88	14.7487|14.7487	0.69508|0.69508	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	94|21	.|.	ENSP00000341031:Q94X|.	Q|S	+|+	1|2	0|0	TPRG1|TPRG1	190415844|190415844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.424000|2.424000	0.44714|0.44714	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CAA|TCA		TCGA-H6-A45N-01A-11D-A26I-08	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	0	0	0	10	242	0	32	0	2.667599e-02	0	6	0	32	2		0	0	0	0	0	2	1	0.996924	10	240	0	32	2		0	0	0	0	32	2	-3.234426	1	1	0	0		1	1	2	3	2.027261	0	0.110000	2.030000	0.121595	0.810000	0.390000	1.000000	1.000000	0.794544	0.810000	0	0.570000	1.000000
SPATA5	166378	broad.mit.edu	37	4	123855729	123855729	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr4:123855729C>T	ENST00000274008.4	+	5	1052	c.983C>T	c.(982-984)tCa>tTa	p.S328L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5			24					TTTATTTCTTCAACAACAAGA	0.343000																								0							SO:0001583	missense			ENST00000274008.4	0	1	hg19	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509992	0.64522	.	.	ENSG00000145375	ENST00000274008	D	0.94613	-3.47	5.19	5.19	0.71726	.	0.280274	0.35903	N	0.002902	D	0.92414	0.7592	L	0.31752	0.955	0.41954	D	0.990675	P;P	0.39376	0.67;0.616	B;B	0.42851	0.4;0.343	D	0.93179	0.6573	10	0.66056	D	0.02	-13.3745	18.9179	0.92513	0.0:1.0:0.0:0.0	.	328;328	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	328	ENSP00000274008:S328L	ENSP00000274008:S328L	S	+	2	0	SPATA5	124075179	0.982000	0.34865	1.000000	0.80357	0.990000	0.78478	1.715000	0.37971	2.705000	0.92388	0.655000	0.94253	TCA		TCGA-H6-A45N-01A-11D-A26I-08	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	0	0	0	9	294	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	0.994231	9	292	0	19	2		0	0	0	0	19	2	-9.815892	1	1	0	0		1	0	1	1	1.990017	0	0.110000	2.030000	0.103591	0.550000	0.270000	0.940000	0.530000	0.573230	0.550000	0	0.390000	0.740000
TMEM14B	81853	broad.mit.edu	37	6	10755436	10755436	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:10755436C>T	ENST00000379542.5	+	5	431	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TMEM14B_ENST00000379530.3_Silent_p.F54F|TMEM14B_ENST00000473276.1_Missense_Mutation_p.H29Y|TMEM14B_ENST00000481240.1_Silent_p.F54F|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Silent_p.F54F|TMEM14B_ENST00000467317.1_Silent_p.F88F|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Silent_p.F88F	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B			11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)			ATGGAAAATTCATGCCTGTAG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000379542.5	1	1	hg19	CCDS4515.1	.	.	.	.	.	.	.	.	.	.	C	5.731	0.319266	0.10845	.	.	ENSG00000137210	ENST00000473276	T	0.40225	1.04	3.84	-5.39	0.02664	.	.	.	.	.	T	0.28200	0.0696	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47341	-0.9125	5	.	.	.	.	13.8756	0.63651	0.1176:0.7423:0.0:0.1401	.	.	.	.	Y	29	ENSP00000420580:H29Y	.	H	+	1	0	TMEM14B	10863422	0.156000	0.22821	0.899000	0.35326	0.435000	0.31806	-0.928000	0.03980	-1.139000	0.02881	-0.367000	0.07326	CAT		TCGA-H6-A45N-01A-11D-A26I-08	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039836.1	0	0	0	21	355	0	33	1	9.876232e-01	12	109	0	33	2		0	0	0	0	0	2	1	0.999997	20	352	0	33	2		0	0	0	0	33	2	-5.415077	1	1	0	0		1	1	2	3	2.053973	0	0.110000	2.030000	0.127280	0.990000	0.680000	1.000000	1.000000	0.954257	0.990000	1	0.870000	1.000000
PSMB1	5689	broad.mit.edu	37	6	170852698	170852698	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:170852698C>G	ENST00000262193.6	-	4	522	c.424G>C	c.(424-426)Gat>Cat	p.D142H	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1			5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		Bortezomib(DB00188)|Carfilzomib(DB08889)	CCTTCTTCATCAAGTCCACCG	0.423000																								0							SO:0001583	missense			ENST00000262193.6	1	1	hg19	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559079	0.86335	.	.	ENSG00000008018	ENST00000262193;ENST00000392093	T	0.59502	0.26	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.80534	0.4641	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86008	0.1499	10	0.87932	D	0	-25.2937	18.5453	0.91044	0.0:1.0:0.0:0.0	.	142	P20618	PSB1_HUMAN	H	142;147	ENSP00000262193:D142H	ENSP00000262193:D142H	D	-	1	0	PSMB1	170694623	1.000000	0.71417	0.944000	0.38274	0.995000	0.86356	6.990000	0.76225	2.451000	0.82905	0.650000	0.86243	GAT		TCGA-H6-A45N-01A-11D-A26I-08	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	0	0	1	16	442	0	53	1	9.991468e-01	36	287	0	53	2		0	0	0	0	0	2	1	0.999927	17	434	0	52	2		0	0	0	0	53	2	-3.295371	1	1	0	0		1	0	0	0	1.899093	1	0.110000	2.030000	0.058201	0.590000	0.350000	0.880000	0.580000	0.608571	0.590000	0	0.460000	0.750000
NRN1	51299	broad.mit.edu	37	6	6002623	6002623	+	Missense_Mutation	SNP	C	C	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:6002623C>G	ENST00000244766.2	-	2	380	c.163G>C	c.(163-165)Ggc>Cgc	p.G55R	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1			8	Ovarian(93;0.0816)	all_hematologic(90;0.151)			TCGTCCAGGCCCTGCGGGTAG	0.612000																								0							SO:0001583	missense			ENST00000244766.2	1	1	hg19	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348508	0.61183	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.313474	0.30285	N	0.009976	T	0.18130	0.0435	N	0.14661	0.345	0.41287	D	0.986956	B	0.32160	0.358	B	0.27608	0.081	T	0.07290	-1.0780	9	0.21014	T	0.42	-12.6147	13.9329	0.64007	0.0:1.0:0.0:0.0	.	55	Q9NPD7	NRN1_HUMAN	R	55	.	ENSP00000244766:G55R	G	-	1	0	NRN1	5947622	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.796000	0.62496	2.185000	0.69588	0.462000	0.41574	GGC		TCGA-H6-A45N-01A-11D-A26I-08	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1	1	0	0	51	607	0	120	0	1.553176e-01	0	9	0	120	2		0	0	0	0	0	2	1	1.000000	51	602	0	119	2		0	0	0	0	120	2	-3.075755	1	1	0	0		1	1	2	3	2.053973	0	0.110000	2.030000	0.127280	0.990000	0.990000	1.000000	1.000000	0.999799	0.990000	1	0.990000	1.000000
BACH2	60468	broad.mit.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2			45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)			CCCGTCCTCCGCGTAGGAATA	0.622000																								0							SO:0001583	missense			ENST00000257749.4	1	1	hg19	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288626	0.80914	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.45276	0.9;0.9;0.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.51309	-0.8722	10	0.59425	D	0.04	-6.4783	18.7377	0.91761	0.0:0.0:1.0:0.0	.	529	Q9BYV9	BACH2_HUMAN	V	529	ENSP00000257749:A529V;ENSP00000437473:A529V;ENSP00000345642:A529V	ENSP00000257749:A529V	A	-	2	0	BACH2	90716960	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.230000	0.95299	2.435000	0.82474	0.460000	0.39030	GCG		TCGA-H6-A45N-01A-11D-A26I-08	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	1	0	0	24	468	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1.000000	23	467	0	57	2		0	0	0	0	57	2	-3.225608	1	1	121412	2	34	1	0	0	0	1.899093	1	0.110000	2.030000	0.058201	0.790000	0.530000	0.980000	0.810000	0.791493	0.790000	0	0.650000	0.920000
MGAM	8972	broad.mit.edu	37	7	141759383	141759383	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:141759383C>T	ENST00000549489.2	+	32	4026	c.3931C>T	c.(3931-3933)Cgg>Tgg	p.R1311W	MGAM_ENST00000475668.2_Missense_Mutation_p.R1311W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)			13	Melanoma(164;0.0272)			Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATGGGATGCGGGTCATCCT	0.512000																								0							SO:0001583	missense			ENST00000549489.2	1	1	hg19	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	c	15.79	2.938077	0.52972	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.93859	-3.3	4.21	0.805	0.18703	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.97300	0.9117	H	0.96430	3.82	0.37421	D	0.913656	D	0.89917	1.0	D	0.87578	0.998	D	0.97840	1.0268	9	0.87932	D	0	.	11.2024	0.48749	0.5799:0.4201:0.0:0.0	.	1311	O43451	MGA_HUMAN	W	1311;1311;1188	ENSP00000447378:R1311W	ENSP00000316431:R1188W	R	+	1	2	MGAM	141405852	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.011000	0.29911	0.729000	0.32403	0.194000	0.17425	CGG		TCGA-H6-A45N-01A-11D-A26I-08	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3	1	0	0	17	310	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.999956	17	298	0	64	2		0	0	0	0	61	2	-3.008785	1	1	120946	5	40	1	1	2	3	2.013976	0	0.110000	2.030000	0.118725	0.990000	0.590000	1.000000	1.000000	0.914907	0.990000	1	0.770000	1.000000
ANKMY2	57037	broad.mit.edu	37	7	16655415	16655415	+	Missense_Mutation	SNP	C	C	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:16655415C>A	ENST00000306999.2	-	5	728	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2			23	Lung NSC(10;0.103)|all_lung(11;0.204)				GTGCAGCGGGCCTGCCAACTT	0.428000																								0							SO:0001583	missense			ENST00000306999.2	1	1	hg19	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633032	0.67015	.	.	ENSG00000106524	ENST00000306999	T	0.71341	-0.56	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.65975	2.015	0.80722	D	1	P	0.35745	0.518	B	0.26770	0.073	T	0.69423	-0.5149	10	0.42905	T	0.14	-30.5635	20.2886	0.98538	0.0:1.0:0.0:0.0	.	162	Q8IV38	ANKY2_HUMAN	V	162	ENSP00000303570:G162V	ENSP00000303570:G162V	G	-	2	0	ANKMY2	16621940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.670000	0.68088	2.882000	0.98803	0.655000	0.94253	GGC		TCGA-H6-A45N-01A-11D-A26I-08	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	1	0	1	25	256	0	28	1	7.901044e-01	6	26	0	28	2		0	0	0	0	0	2	1	1.000000	25	252	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	2.013976	0	0.110000	2.030000	0.118725	0.990000	0.990000	1.000000	1.000000	0.999432	0.990000	1	0.990000	1.000000
GARS	2617	broad.mit.edu	37	7	30662035	30662035	+	Missense_Mutation	SNP	G	G	A			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr7:30662035G>A	ENST00000389266.3	+	12	1811	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase			24				Glycine(DB00145)	CATTTGTGATGAGTGCTACAT	0.423000																								0							SO:0001583	missense			ENST00000389266.3	1	1	hg19	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343682	0.61073	.	.	ENSG00000106105	ENST00000389266	D	0.85702	-2.02	5.65	5.65	0.86999	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	M	0.68952	2.095	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.78329	-0.2246	10	0.25751	T	0.34	-25.7312	17.5958	0.88011	0.0:0.0:1.0:0.0	.	524	P41250	SYG_HUMAN	K	524	ENSP00000373918:E524K	ENSP00000373918:E524K	E	+	1	0	GARS	30628560	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	6.783000	0.75078	2.836000	0.97738	0.655000	0.94253	GAG		TCGA-H6-A45N-01A-11D-A26I-08	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	0	0	0	42	1061	0	113	1	9.510365e-01	10	115	0	113	2		0	0	0	0	0	2	1	1.000000	42	1053	0	113	2		0	0	0	0	113	2	-3.122915	1	1	0	0		1	1	2	3	2.013976	0	0.110000	2.030000	0.118725	0.720000	0.510000	1.000000	0.700000	0.749858	0.720000	0	0.600000	0.930000
DLGAP2	9228	broad.mit.edu	37	8	1626396	1626396	+	Missense_Mutation	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr8:1626396C>T	ENST00000421627.2	+	9	2199	c.2065C>T	c.(2065-2067)Cgt>Tgt	p.R689C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			ACGTTTTAAACGTTCTAACAG	0.557000																								0							SO:0001583	missense			ENST00000421627.2	0	1	hg19	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104697	0.77096	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.22336	1.96	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60505	-0.7250	10	0.87932	D	0	-4.8866	17.9665	0.89100	0.0:1.0:0.0:0.0	.	754;768	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	C	720;689	ENSP00000400258:R689C	ENSP00000348366:R720C	R	+	1	0	DLGAP2	1613803	1.000000	0.71417	0.996000	0.52242	0.511000	0.34104	7.350000	0.79385	2.231000	0.72958	0.557000	0.71058	CGT		TCGA-H6-A45N-01A-11D-A26I-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	0	0	0	12	383	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	0.999078	12	378	0	50	2		0	0	0	0	50	2	-11.911440	1	1	121000	1	31	1	1	2	3	2.043533	0	0.110000	2.030000	0.125393	0.630000	0.320000	1.000000	0.550000	0.679162	0.630000	0	0.450000	1.000000
UNC13B	10497	broad.mit.edu	37	9	35236562	35236562	+	Missense_Mutation	SNP	G	G	C			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chr9:35236562G>C	ENST00000378495.3	+	4	471	c.249G>C	c.(247-249)aaG>aaC	p.K83N	UNC13B_ENST00000396787.1_Missense_Mutation_p.K83N|UNC13B_ENST00000378496.4_Missense_Mutation_p.K83N	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)			63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		TTGCGCTGAAGACTATTCGTC	0.493000																								0							SO:0001583	missense			ENST00000378495.3	1	1	hg19	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897790	0.33535	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	T;T;T	0.70749	-0.51;-0.51;-0.51	5.21	3.33	0.38152	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.256850	0.36893	N	0.002350	T	0.51805	0.1696	N	0.17474	0.49	0.40200	D	0.977502	B;B;B	0.12630	0.0;0.006;0.0	B;B;B	0.15052	0.001;0.012;0.001	T	0.48885	-0.8995	10	0.66056	D	0.02	-6.2976	7.8316	0.29347	0.1517:0.1359:0.7123:0.0	.	83;83;83	Q2NKJ5;F8W8M9;O14795	.;.;UN13B_HUMAN	N	83	ENSP00000380006:K83N;ENSP00000367756:K83N;ENSP00000367757:K83N	ENSP00000367756:K83N	K	+	3	2	UNC13B	35226562	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.737000	0.26144	0.741000	0.32674	0.591000	0.81541	AAG		TCGA-H6-A45N-01A-11D-A26I-08	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	1	0	0	27	652	0	113	0	4.104803e-02	1	7	0	113	2		0	0	0	0	0	2	1	1.000000	27	648	0	111	2		0	0	0	0	113	2	-4.025389	1	1	0	0		1	0	1	1	1.895247	1	0.110000	2.030000	0.058201	0.670000	0.450000	0.920000	0.670000	0.684935	0.670000	0	0.550000	0.800000
SMARCA1	6594	broad.mit.edu	37	X	128599617	128599617	+	Silent	SNP	C	C	T			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:128599617C>T	ENST00000371122.4	-	23	3039	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SMARCA1_ENST00000371121.3_Silent_p.L958L|SMARCA1_ENST00000371123.1_Silent_p.L958L	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1			45					ACATACAAATCAAGAATCTAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000371122.4	1	1	hg19	CCDS14612.1																																																																																				TCGA-H6-A45N-01A-11D-A26I-08	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	0	0	0	13	519	0	32	0	3.984842e-01	0	53	0	32	2		0	0	0	0	0	2	1	0.999524	13	516	0	32	2		0	0	0	0	32	2	-3.456428	1	1	0	0		1	0	1	1			0.110000	2.030000	0.110000	0.450000	0.250000	0.720000	0.440000	0.469413	0.450000	0	0.340000	0.590000
GPR112	139378	broad.mit.edu	37	X	135429571	135429571	+	Missense_Mutation	SNP	A	A	G			TCGA-H6-A45N-01A-11D-A26I-08	TCGA-H6-A45N-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac2306c-b188-4c61-ab10-2021a442b995	06e0e8e9-66a1-412f-87ba-3eba5935b6fc	g.chrX:135429571A>G	ENST00000394143.1	+	6	3997	c.3706A>G	c.(3706-3708)Aca>Gca	p.T1236A	GPR112_ENST00000412101.1_Missense_Mutation_p.T1031A|GPR112_ENST00000370652.1_Missense_Mutation_p.T1236A|GPR112_ENST00000394141.1_Missense_Mutation_p.T1031A|GPR112_ENST00000287534.4_Missense_Mutation_p.T1173A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112			199	Acute lymphoblastic leukemia(192;0.000127)				TTCATCTGCCACATATCGTGT	0.473000																								0							SO:0001583	missense			ENST00000394143.1	1	1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	13.00	2.107852	0.37242	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.21;1.21;1.17;1.28;1.17	3.05	0.638	0.17742	.	.	.	.	.	T	0.41811	0.1175	L	0.32530	0.975	0.09310	N	1	D;D;D	0.67145	0.99;0.996;0.993	D;D;D	0.75484	0.971;0.986;0.968	T	0.18935	-1.0321	9	0.87932	D	0	.	4.1682	0.10317	0.6502:0.0:0.3498:0.0	.	1173;1031;1236	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1236;1236;1031;1173;1031	ENSP00000377699:T1236A;ENSP00000359686:T1236A;ENSP00000416526:T1031A;ENSP00000287534:T1173A;ENSP00000377697:T1031A	ENSP00000287534:T1173A	T	+	1	0	GPR112	135257237	0.026000	0.19158	0.002000	0.10522	0.004000	0.04260	1.114000	0.31196	0.250000	0.21479	0.427000	0.28365	ACA		TCGA-H6-A45N-01A-11D-A26I-08	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1	0	0	0	68	1477	1	161		0	0	0	1	161	2		0	0	0	0	0	2	1	0.999984	68	1468	1	160	29		0	0	0	1	161	2	-5.902686	1	1	0	0		1	0	1	1			0.110000	2.030000	0.110000	0.790000	0.620000	0.990000	0.800000	0.805581	0.790000	0	0.700000	0.900000
