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
GUCY2C	2984	broad.mit.edu	37	12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)gaafs	p.E869fs	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)			51				Linaclotide(DB08890)	CCGATGGTTTCCACCTGTGGA	0.433000																								0							SO:0001589	frameshift_variant			ENST00000261170.3	0	1	hg19	CCDS8664.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1	1	0	0	26	414	0	117	0	3.860964e-03	0	2	0	117	2			0	0	0	0		1	0.879041	34	400	2	115	19	0	0	0	0	0	0		-3.016822	1	1	0	0		1	0	1	1	1.799347	1	0.230000	1.890000	0.129944	0.450000	0.300000	0.630000	0.450000	0.462958	0.450000	0	3.700000e-01	5.400000e-01
RNF43	54894	broad.mit.edu	37	17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acafs	p.T204fs	RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TGCCCACCACTGTCATTAGGA	0.592000																								0							SO:0001589	frameshift_variant			ENST00000584437.1	1	1	hg19	CCDS11607.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	0	37	360	0	98	1	4.858765e-02	2	2	0	98	2	1	1	114	1132	0	854	2	1	1.000000	39	358	0	98	2	0	0	0	0	0	0		-12.521570	1	1	0	0		1	0	1	1	1.788829	1	0.230000	1.890000	0.129944	0.700000	0.510000	0.920000	0.710000	0.717421	0.700000	0	6.000000e-01	8.200000e-01
SMAD4	4089	broad.mit.edu	37	18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-	rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			TGGAGGAGA	-	TGGAGGAGA	TGGAGGAGA		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000342988.3	+	9	1609_1617	c.1071_1079delTGGAGGAGA	c.(1069-1080)tctggaggagat>tct	p.GGD358del	SMAD4_ENST00000588745.1_In_Frame_Del_p.GGD262del|SMAD4_ENST00000398417.2_In_Frame_Del_p.GGD358del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.G358*(4)|p.?(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411000																								42	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(2)						SO:0001651	inframe_deletion			ENST00000342988.3	1	1	hg19	CCDS11950.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	28	308	0	90	0	8.788688e-01	0	43	0	90	2	1	1	62	871	0	926	2	1	0.639988	48	321	4	92	29	0	0	0	0	0	0		-3.017764	1	1	0	0		1	0	1	1	1.803354	1	0.230000	1.890000	0.129944	0.630000	0.430000	0.860000	0.630000	0.646029	0.630000	0	5.200000e-01	7.600000e-01
PCLO	27445	broad.mit.edu	37	7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000333891.9	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)cttfs	p.L2116fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.L2116fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein			259					CGAATCTGTAAGAGACGCTCCT	0.436000																								0							SO:0001589	frameshift_variant			ENST00000333891.9	1	1	hg19	CCDS47630.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	0	22	212	0	72			0	0	0	72				0	0	0	0		1	0.999999	31	213	0	71	2	0	0	0	0	0	0		-20.000000	1	0	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.810000	0.530000	1.000000	1.000000	0.815370	0.810000	0	6.600000e-01	9.900000e-01
BTRC	8945	broad.mit.edu	37	10	103292106	103292106	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase			27		Colorectal(252;0.234)			AATTCACTGCCGAAGTGAAAC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000370187.3	1	1	hg19	CCDS7512.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	0	0	0	16	585	0	157	0	5.185707e-02	0	13	0	157	2		0	0	0	0	0	2	1	0.999923	15	576	0	156	2		0	0	0	0	157	2	-2.062870	0	1	0	0		1	0	1	1	1.914114	0	0.230000	1.890000	0.192872	0.220000	0.130000	0.340000	0.220000	0.232253	0.220000	0	1.700000e-01	2.900000e-01
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	p.S87L(1)		17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		L-Isoleucine(DB00167)|Valproic Acid(DB00313)	GATGAAAATTCGAAAATGGAG	0.313000																								1	Substitution - Missense(1)						SO:0001587	stop_gained			ENST00000358776.4	0	1	hg19	CCDS7634.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221647	0.95139	.	.	ENSG00000196177	ENST00000358776	.	.	.	5.93	5.01	0.66863	.	0.132878	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	.	.	.	X	87	.	ENSP00000357873:S87X	S	+	2	0	ACADSB	124787310	0.964000	0.33143	0.998000	0.56505	0.979000	0.70002	4.641000	0.61375	1.466000	0.48025	0.655000	0.94253	TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050843.1	0	0	0	11	686	0	153	0	4.508568e-03	1	5	0	153	2		0	0	0	0	0	2	1	0.998148	10	674	0	150	2		0	0	0	0	153	2	-2.292761	0	1	0	0		1	0	1	1	1.914114	0	0.230000	1.890000	0.192872	0.130000	0.060000	0.220000	0.130000	0.141564	0.130000	0	9.000000e-02	1.800000e-01
ZRANB1	54764	broad.mit.edu	37	10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1			23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)			TAGAGACGTTCAAAAAGGTAA	0.328000																								0							SO:0001583	missense			ENST00000359653.4	0	1	hg19	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995286	0.74703	.	.	ENSG00000019995	ENST00000359653	T	0.20200	2.09	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	M	0.69823	2.125	0.80722	D	1	P	0.43169	0.8	B	0.35899	0.213	T	0.15752	-1.0426	10	0.49607	T	0.09	-25.352	18.3777	0.90440	0.0:1.0:0.0:0.0	.	408	Q9UGI0	ZRAN1_HUMAN	K	408	ENSP00000352676:Q408K	ENSP00000352676:Q408K	Q	+	1	0	ZRANB1	126652269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.562000	0.86427	0.650000	0.86243	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	0	0	0	11	818	0	192	0	9.345083e-02	0	35	0	192	2		0	0	0	0	0	2	1	0.998172	12	803	0	191	2		0	0	0	0	192	2	-2.402909	0	1	0	0		1	0	1	1	1.914114	0	0.230000	1.890000	0.192872	0.110000	0.050000	0.190000	0.110000	0.119192	0.110000	0	7.000000e-02	1.500000e-01
FRMD4A	55691	broad.mit.edu	37	10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A			41					CCGAACAATGGGTGGTTCCTC	0.502000																								0							SO:0001583	missense			ENST00000357447.2	0	1	hg19	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874849	0.91664	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.88201	-2.34;-2.35;-2.35;-2.14	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93758	0.7064	10	0.72032	D	0.01	-23.2153	18.8905	0.92399	0.0:0.0:1.0:0.0	.	469;436	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	H	421;436;436;469	ENSP00000351438:P421H;ENSP00000350032:P436H;ENSP00000367764:P436H;ENSP00000264546:P469H	ENSP00000264546:P469H	P	-	2	0	FRMD4A	13752479	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	9.610000	0.98337	2.707000	0.92482	0.655000	0.94253	CCC		TCGA-HZ-A77Q-01A-11D-A36O-08	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	0	0	0	7	355	0	91	0	7.484993e-02	0	20	0	91	2		0	0	0	0	0	2	1	0.980075	7	351	0	91	2		0	0	0	0	91	2	-2.822692	1	1	0	0		1	0	0	0	1.901996	0	0.230000	1.890000	0.176999	0.160000	0.070000	0.300000	0.160000	0.176515	0.160000	0	1.100000e-01	2.300000e-01
CCDC7	79741	broad.mit.edu	37	10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000535327.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7			14		Breast(68;0.000207)|Prostate(175;0.0107)			ATGACTAATCGATTTAATGCC	0.249000																								0							SO:0001583	missense			ENST00000362006.5	0	1	hg19	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633269	0.47049	.	.	ENSG00000216937	ENST00000277657;ENST00000362006	T;T	0.38887	1.11;1.11	4.13	-2.58	0.06228	.	.	.	.	.	T	0.34832	0.0911	L	0.34521	1.04	0.09310	N	1	P	0.46064	0.872	P	0.46685	0.524	T	0.35943	-0.9768	9	0.66056	D	0.02	-5.7463	9.3861	0.38345	0.7177:0.0:0.2823:0.0	.	274	Q96M83	CCDC7_HUMAN	L	274	ENSP00000277657:R274L;ENSP00000355078:R274L	ENSP00000277657:R274L	R	+	2	0	CCDC7	32820880	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.418000	0.07080	-0.510000	0.06523	0.561000	0.74099	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	0	0	0	20	1165	0	256		0	0	0	0	256	2		0	0	0	0	0	2	1	0.999994	19	1144	0	255	2		0	0	0	0	256	2	-2.353722	0	1	0	0		1	0	0	0	1.901996	0	0.230000	1.890000	0.176999	0.130000	0.080000	0.210000	0.140000	0.143368	0.130000	0	1.000000e-01	1.700000e-01
GDI2	2665	broad.mit.edu	37	10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q|GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2			10					AAAAGTTCTTGGATCTTTTTC	0.348000																								0							SO:0001583	missense			ENST00000380191.4	0	1	hg19	CCDS7071.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396501	0.42512	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181;ENST00000456041;ENST00000418688	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.31	5.31	0.75309	.	0.364847	0.34932	N	0.003574	T	0.69278	0.3093	M	0.86420	2.815	0.80722	D	1	B;B;B	0.19331	0.035;0.025;0.008	B;B;B	0.31442	0.117;0.13;0.073	T	0.70572	-0.4835	10	0.66056	D	0.02	-11.3866	18.9459	0.92622	0.0:0.0:1.0:0.0	.	159;110;155	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	Q	155;159;110;145;119	ENSP00000369538:P155Q;ENSP00000369475:P159Q;ENSP00000369528:P110Q;ENSP00000401733:P145Q;ENSP00000394177:P119Q	ENSP00000369475:P159Q	P	-	2	0	GDI2	5867944	1.000000	0.71417	0.149000	0.22428	0.114000	0.19823	9.668000	0.98619	2.653000	0.90120	0.655000	0.94253	CCA		TCGA-HZ-A77Q-01A-11D-A36O-08	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046580.1	0	0	0	7	457	0	118	0	9.531543e-01	0	355	0	118	2		0	0	0	0	0	2	1	0.979208	7	447	0	116	2		0	0	0	0	118	2	-2.528173	1	1	0	0		1	0	0	0	1.901996	0	0.230000	1.890000	0.176999	0.120000	0.050000	0.240000	0.120000	0.138272	0.120000	0	8.000000e-02	1.800000e-01
ANK3	288	broad.mit.edu	37	10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.2	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					TTCATCCACTGAAAAATTCAG	0.313000																								0							SO:0001587	stop_gained			ENST00000280772.2	0	1	hg19	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.037921|6.037921	0.97226|0.97226	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197;ENST00000511043|ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.34245	.|N	.|0.004129	T|.	0.53334|.	0.1790|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42816|.	-0.9429|.	4|.	.|0.07813	.|T	.|0.8	.|.	19.1741|19.1741	0.93597|0.93597	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	9;62|4115;1496;94;636;636;1503;1482;737	.|.	.|ENSP00000280772:S4115X	Q|S	-|-	1|2	0|0	ANK3|ANK3	61494028|61494028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.863000|7.863000	0.87023|0.87023	2.530000|2.530000	0.85305|0.85305	0.655000|0.655000	0.94253|0.94253	CAG|TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	0	0	9	401	0	97	0	2.483306e-02	0	10	0	97	2		0	0	0	0	0	2	1	0.993940	9	395	0	97	2		0	0	0	0	97	2	-2.898622	1	1	0	0		1	0	1	1	1.914114	0	0.230000	1.890000	0.192872	0.180000	0.090000	0.330000	0.180000	0.199305	0.180000	0	1.300000e-01	2.600000e-01
TET1	80312	broad.mit.edu	37	10	70450608	70450608	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1			21					AAAGTGAAACCGAACCCCATT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000373644.4	0	1	hg19	CCDS7281.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	0	0	0	8	455	0	143	0	0	0	1	0	143	2		0	0	0	0	0	2	1	0.988619	7	447	0	139	2		0	0	0	0	143	2	-2.523747	1	1	0	0		1	0	1	1	1.914114	0	0.230000	1.890000	0.192872	0.140000	0.060000	0.270000	0.140000	0.159116	0.140000	0	1.000000e-01	2.100000e-01
ANXA11	311	broad.mit.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	p.N41I(1)		17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)		GGTGGCCACGTTATCCAGCCC	0.652000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000438331.1	1	1	hg19	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.921685	0.33908	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799	T;T;T;T;T;T;T	0.02280	4.55;4.55;4.55;4.55;4.55;4.55;4.36	4.69	4.69	0.59074	.	3.387150	0.00706	N	0.000810	T	0.06735	0.0172	N	0.22421	0.69	0.45066	D	0.998081	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.70227	0.968;0.935;0.935	T	0.52124	-0.8617	10	0.08381	T	0.77	.	12.4176	0.55502	0.0:0.0:0.0:1.0	.	141;41;41	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	S	41;41;41;41;41;41;41;8;41;41	ENSP00000361305:N41S;ENSP00000404412:N41S;ENSP00000398610:N41S;ENSP00000353827:N41S;ENSP00000265447:N41S;ENSP00000441748:N41S;ENSP00000441400:N8S	ENSP00000265447:N41S	N	-	2	0	ANXA11	81920585	1.000000	0.71417	0.992000	0.48379	0.096000	0.18686	4.811000	0.62606	1.886000	0.54624	0.364000	0.22116	AAC		TCGA-HZ-A77Q-01A-11D-A36O-08	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	1	0	1	17	248	0	76	1	9.999964e-01	53	282	0	76	2		0	0	0	0	0	2	1	0.999967	17	245	0	76	2		0	0	0	0	76	2	-19.932470	1	1	0	0		1	0	1	1	1.914114	0	0.230000	1.890000	0.192872	0.530000	0.320000	0.800000	0.530000	0.550397	0.530000	0	4.200000e-01	6.700000e-01
EIF4G2	1982	broad.mit.edu	37	11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2			43					TGGCATGAACGGTCCCTCCAG	0.438000																								0							SO:0001583	missense			ENST00000526148.1	0	1	hg19	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564900	0.65651	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416	T;T;T;T;T	0.22743	2.27;2.27;2.27;2.25;1.94	5.77	5.77	0.91146	.	0.096982	0.64402	D	0.000001	T	0.22627	0.0546	L	0.36672	1.1	0.35089	D	0.764105	P;P;P	0.43578	0.662;0.532;0.811	B;B;B	0.40134	0.32;0.171;0.119	T	0.02668	-1.1126	9	0.51188	T	0.08	-4.9893	20.3626	0.98863	0.0:0.0:1.0:0.0	.	355;355;428	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	Q	355;355;355;355;428;355	ENSP00000433664:P355Q;ENSP00000433371:P355Q;ENSP00000340281:P355Q;ENSP00000379778:P355Q;ENSP00000431583:P355Q	ENSP00000340281:P355Q	P	-	2	0	EIF4G2	10780491	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.313000	0.72844	2.885000	0.99019	0.655000	0.94253	CCG		TCGA-HZ-A77Q-01A-11D-A36O-08	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	0	0	0	9	773	0	184	0	9.932455e-01	1	754	0	184	2		0	0	0	0	0	2	1	0.993636	9	756	0	180	2		0	0	0	0	184	2	-2.107972	0	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.100000	0.040000	0.200000	0.100000	0.119405	0.100000	0	7.000000e-02	1.500000e-01
HTR3A	3359	broad.mit.edu	37	11	113856786	113856786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000375498.2_Silent_p.S204S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000299961.5_Silent_p.S183S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic			36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	AGGTGAAATCCGACAGGAGTG	0.502000																								0							SO:0001819	synonymous_variant			ENST00000504030.2	0	1	hg19																																																																																					TCGA-HZ-A77Q-01A-11D-A36O-08	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	0	0	0	10	897	0	237	0	0	0	1	0	237	2		0	0	0	0	0	2	1	0.996708	12	885	0	236	2		0	0	0	0	237	2	-1.759563	0	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.090000	0.040000	0.190000	0.100000	0.113847	0.090000	0	6.000000e-02	1.400000e-01
TRAF6	7189	broad.mit.edu	37	11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase			27	all_lung(20;0.211)	all_hematologic(20;0.107)			CTGTCTCCTTGGACAATCCTT	0.383000																								0							SO:0001583	missense			ENST00000526995.1	0	1	hg19	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231445	0.39399	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.32023	1.47;1.47	5.49	4.58	0.56647	Zinc finger, TRAF-type (1);	0.202993	0.47093	D	0.000247	T	0.25494	0.0620	L	0.58428	1.81	0.45806	D	0.99868	P	0.40266	0.71	B	0.31442	0.13	T	0.06075	-1.0847	10	0.13470	T	0.59	-14.1184	14.391	0.66978	0.0711:0.0:0.9289:0.0	.	183	Q9Y4K3	TRAF6_HUMAN	Q	183	ENSP00000433623:P183Q;ENSP00000337853:P183Q	ENSP00000337853:P183Q	P	-	2	0	TRAF6	36475292	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	1.971000	0.40530	1.325000	0.45301	0.650000	0.86243	CCA		TCGA-HZ-A77Q-01A-11D-A36O-08	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	0	0	0	8	395	0	68	0	1.375718e-02	0	8	0	68	2		0	0	0	0	0	2	1	0.989204	8	392	0	67	2		0	0	0	0	68	2	-2.868269	1	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.180000	0.080000	0.350000	0.180000	0.200005	0.180000	0	1.200000e-01	2.600000e-01
FOLH1	2346	broad.mit.edu	37	11	49208253	49208253	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000256999.2	-	5	842	c.582C>A	c.(580-582)atC>atA	p.I194I	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.I179I|FOLH1_ENST00000533034.1_Silent_p.I179I|FOLH1_ENST00000356696.3_Silent_p.I194I	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1			60				Capromab(DB00089)	CAGAGCAATTGATTTTCATGT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000256999.2	0	1	hg19	CCDS7946.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	0	0	0	11	602	0	137	0	1.049720e-02	0	8	0	137	2		0	0	0	0	0	2	0	0.253996	10	588	1	142	15		0	0	0	0	137	2	-3.094881	1	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.160000	0.080000	0.290000	0.160000	0.177281	0.160000	0	1.100000e-01	2.200000e-01
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1			43	Esophageal squamous(21;0.00448)				CTGAAGTCACCATGTTTATAT	0.299000																								0							SO:0001819	synonymous_variant			ENST00000313033.2	0	1	hg19	CCDS31525.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	0	0	0	11	708	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	0.998237	11	700	0	161	2		0	0	0	0	161	2	-1.987976	0	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.130000	0.060000	0.250000	0.140000	0.152770	0.130000	0	9.000000e-02	1.900000e-01
OR8H1	219469	broad.mit.edu	37	11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1			43	Esophageal squamous(21;0.00448)				TAACTGAGGTCAATAAATGAC	0.413000																								0							SO:0001583	missense			ENST00000313022.2	0	1	hg19	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920585	0.33908	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.01185	5.21	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.11879	0.0289	H	0.96777	3.88	0.39098	D	0.961238	D	0.71674	0.998	D	0.66979	0.948	T	0.25606	-1.0127	10	0.87932	D	0	.	16.4739	0.84127	0.0:1.0:0.0:0.0	.	70	Q8NGG4	OR8H1_HUMAN	Y	70;66	ENSP00000323595:D70Y	ENSP00000323595:D70Y	D	-	1	0	OR8H1	55814907	0.997000	0.39634	0.932000	0.37286	0.004000	0.04260	4.149000	0.58091	2.147000	0.66899	0.544000	0.68410	GAC		TCGA-HZ-A77Q-01A-11D-A36O-08	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	0	0	0	12	1070	0	333		0	0	0	0	333	2		0	0	0	0	0	2	1	0.998989	11	1049	0	333	2		0	0	0	0	333	2	-2.402354	0	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.090000	0.040000	0.180000	0.100000	0.112975	0.090000	0	7.000000e-02	1.300000e-01
OR52E8	390079	broad.mit.edu	37	11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8			20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)			AGCTTTGAGTCGAGCTTCCCA	0.418000																								0							SO:0001583	missense			ENST00000537935.1	0	1	hg19	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389468	0.42410	.	.	ENSG00000183269	ENST00000537935	T	0.00330	8.08	4.42	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.129746	0.34700	N	0.003757	T	0.00936	0.0031	M	0.93375	3.41	0.09310	N	1	D	0.64830	0.994	D	0.69824	0.966	T	0.24333	-1.0163	10	0.87932	D	0	.	7.2403	0.26092	0.1727:0.7351:0.0:0.0922	.	239	Q6IFG1	O52E8_HUMAN	L	239	ENSP00000444054:R239L	ENSP00000444054:R239L	R	-	2	0	OR52E8	5834793	0.000000	0.05858	0.001000	0.08648	0.792000	0.44763	0.588000	0.23924	1.169000	0.42739	0.549000	0.68633	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	0	0	0	10	568	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	0.996727	10	561	0	127	2		0	0	0	0	129	2	-3.302136	1	1	121044	5	39	1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.150000	0.070000	0.290000	0.150000	0.172535	0.150000	0	1.100000e-01	2.200000e-01
NAALAD2	10003	broad.mit.edu	37	11	89914807	89914807	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.V593V	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2			59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)			TTTCTGCTGTGAAAAACTTCT	0.318000																								0							SO:0001819	synonymous_variant			ENST00000534061.1	0	1	hg19	CCDS8288.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	0	0	0	11	590	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	0.998243	10	584	0	130	2		0	0	0	0	130	2	-2.864357	1	1	0	0		1	1	2	3	2.026526	0	0.230000	1.890000	0.231767	0.160000	0.080000	0.300000	0.160000	0.180596	0.160000	0	1.100000e-01	2.200000e-01
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000539410.1	+	8	1078	c.692G>T	c.(691-693)cGa>cTa	p.R231L	GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000537247.1_Missense_Mutation_p.R127L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3			35					TGTTCTCATCGATTTTCTATT	0.318000																								0							SO:0001583	missense			ENST00000539410.1	0	1	hg19	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042073	0.75732	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26660	1.73;1.73;1.72;1.73	5.9	5.9	0.94986	Growth-arrest-specific protein 2 domain (4);	0.189964	0.43919	D	0.000502	T	0.41558	0.1164	L	0.31476	0.935	0.35362	D	0.78831	D	0.60575	0.988	D	0.66351	0.943	T	0.44143	-0.9347	10	0.62326	D	0.03	-14.7321	20.2723	0.98479	0.0:0.0:1.0:0.0	.	231	Q86XJ1	GA2L3_HUMAN	L	231;231;127;231	ENSP00000266754:R231L;ENSP00000448955:R231L;ENSP00000442406:R127L;ENSP00000439672:R231L	ENSP00000266754:R231L	R	+	2	0	GAS2L3	99540227	1.000000	0.71417	0.991000	0.47740	0.648000	0.38561	3.905000	0.56333	2.793000	0.96121	0.563000	0.77884	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	0	0	0	10	624	0	127	0	0	0	1	0	127	2		0	0	0	0	0	2	1	0.996709	10	616	0	126	2		0	0	0	0	127	2	-2.585698	1	1	0	0		1	1	2	3	2.044481	0	0.230000	1.890000	0.235277	0.140000	0.060000	1.000000	0.140000	0.190546	0.140000	0	1.000000e-01	2.100000e-01
ACACB	32	broad.mit.edu	37	12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta			95				Adenine(DB00173)|Biotin(DB00121)	CCTAAACTTCCGGAGCTGCTG	0.517000																								0							SO:0001583	missense			ENST00000338432.7	0	1	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155578	0.94686	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.92545	-3.06;-3.06;-3.06	5.23	5.23	0.72850	ATP-grasp fold, subdomain 2 (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97015	0.9025	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97700	1.0184	10	0.87932	D	0	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	361	O00763	ACACB_HUMAN	Q	361	ENSP00000341044:P361Q;ENSP00000367079:P361Q;ENSP00000367085:P361Q	ENSP00000341044:P361Q	P	+	2	0	ACACB	108094509	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	7.776000	0.85560	2.607000	0.88179	0.655000	0.94253	CCG		TCGA-HZ-A77Q-01A-11D-A36O-08	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	0	0	0	9	861	0	240	0	4.836505e-03	0	9	0	240	2		0	0	0	0	0	2	1	0.993417	10	838	0	238	2		0	0	0	0	240	2	-1.777990	0	1	0	0		1	1	2	3	2.044481	0	0.230000	1.890000	0.235277	0.090000	0.040000	1.000000	0.090000	0.142297	0.090000	0	6.000000e-02	1.400000e-01
SBNO1	55206	broad.mit.edu	37	12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000602398.1	-	26	3527	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000420886.2_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)			62	all_neural(191;0.101)|Medulloblastoma(191;0.163)				TTGGCATTTTGAACAACTGCA	0.383000																								0							SO:0001583	missense			ENST00000602398.1	0	1	hg19	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682710	0.29872	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.28255	1.62;1.62	5.3	4.4	0.53042	.	0.072967	0.56097	D	0.000032	T	0.18467	0.0443	N	0.14661	0.345	0.48632	D	0.999684	B;B;B	0.33777	0.425;0.372;0.005	B;B;B	0.31812	0.136;0.083;0.011	T	0.07539	-1.0767	10	0.26408	T	0.33	-15.4955	14.3194	0.66476	0.0732:0.0:0.9268:0.0	.	1134;1133;245	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	K	1134;1133	ENSP00000387361:Q1134K;ENSP00000267176:Q1133K	ENSP00000267176:Q1133K	Q	-	1	0	SBNO1	122360252	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.590000	0.61013	2.471000	0.83476	0.467000	0.42956	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	0	0	14	807	0	195	0	2.354374e-02	0	13	0	195	2		0	0	0	0	0	2	1	0.999706	12	789	0	194	2		0	0	0	0	195	2	-2.227783	0	1	0	0		1	1	2	3	2.044481	0	0.230000	1.890000	0.235277	0.150000	0.080000	1.000000	0.150000	0.198448	0.150000	0	1.100000e-01	2.100000e-01
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-A77Q-01A-11D-A36O-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	22	292	0	72	1	2.444290e-01	4	9	0	72	2	1	1	47	369	0	430	2	1	0.999999	22	287	0	71	2	1	1	1253	6780	0	72	2	-7.220598	1	1	0	0		1	0	1	1	1.799347	1	0.230000	1.890000	0.129944	0.530000	0.340000	0.760000	0.530000	0.548105	0.530000	0	4.300000e-01	6.500000e-01
ADAMTS20	80070	broad.mit.edu	37	12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20			95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)			TTTGGTACTTGAATTACAGAA	0.433000																								0							SO:0001587	stop_gained			ENST00000389420.3	0	1	hg19	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	g	37	6.446143	0.97572	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	3.97	3.06	0.35304	.	0.504438	0.16887	N	0.195457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.0962	0.30829	0.253:0.0:0.747:0.0	.	.	.	.	X	1062;228;216;1062;1062	.	ENSP00000374068:S1062X	S	-	2	0	ADAMTS20	42111478	0.973000	0.33851	0.280000	0.24747	0.557000	0.35523	1.659000	0.37387	2.140000	0.66376	0.651000	0.88453	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	0	0	0	9	493	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	0.994087	9	489	0	129	2		0	0	0	0	130	2	-2.803499	1	1	0	0		1	1	2	3	2.044481	0	0.230000	1.890000	0.235277	0.160000	0.070000	1.000000	0.160000	0.211459	0.160000	0	1.100000e-01	2.400000e-01
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	p.R312Q(1)|p.R312L(1)		30				Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000261187.4	0	1	hg19	CCDS8961.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710851	0.68730	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000548610;ENST00000261187;ENST00000543448	D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.76	5.76	0.90799	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.261657	0.32533	N	0.005972	D	0.87071	0.6086	L	0.52364	1.645	0.43283	D	0.995255	D	0.65815	0.995	D	0.70935	0.971	D	0.85382	0.1120	9	.	.	.	.	11.3564	0.49617	0.1093:0.0:0.8907:0.0	.	312	O60669	MOT2_HUMAN	L	312;312;312;312;312;213	ENSP00000449547:R312L;ENSP00000448071:R312L;ENSP00000448742:R312L;ENSP00000446722:R312L;ENSP00000261187:R312L;ENSP00000443731:R213L	.	R	+	2	0	SLC16A7	58455278	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.668000	0.54554	2.880000	0.98712	0.650000	0.86243	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	0	0	0	10	677	0	199	0	2.658502e-03	0	5	0	199	2		0	0	0	0	0	2	0	0.259313	10	671	1	195	14		0	0	0	0	199	2	-2.508910	1	1	121412	1	36	1	1	2	3	2.044481	0	0.230000	1.890000	0.235277	0.130000	0.060000	1.000000	0.130000	0.179553	0.130000	0	9.000000e-02	1.900000e-01
CAPS2	84698	broad.mit.edu	37	12	75678746	75678746	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000409445.3	-	16	1763	c.1567C>A	c.(1567-1569)Cga>Aga	p.R523R	CAPS2_ENST00000393284.3_Silent_p.R291R|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_Silent_p.R113R	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2			10					GTTACCTTTCGAACATATGAT	0.274000																								0							SO:0001819	synonymous_variant			ENST00000409445.3	0	1	hg19	CCDS9008.2																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2	0	0	0	10	410	0	94	0	7.394709e-04	0	2	0	94	2		0	0	0	0	0	2	1	0.996807	10	406	0	94	2		0	0	0	0	94	2	-3.131499	1	1	0	0		1	1	2	3	2.044481	0	0.230000	1.890000	0.235277	0.210000	0.100000	1.000000	0.210000	0.262796	0.210000	0	1.500000e-01	3.100000e-01
KDELC1	79070	broad.mit.edu	37	13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1			19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				TCAGTCAAATCGTACGTAGGC	0.453000																								0							SO:0001583	missense			ENST00000376004.4	0	1	hg19	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078147	0.76528	.	.	ENSG00000134901	ENST00000376004	T	0.24723	1.84	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61262	-0.7098	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	271	Q6UW63	KDEL1_HUMAN	Y	271	ENSP00000365172:D271Y	ENSP00000365172:D271Y	D	-	1	0	KDELC1	102241643	1.000000	0.71417	0.884000	0.34674	0.466000	0.32739	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT		TCGA-HZ-A77Q-01A-11D-A36O-08	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1	0	0	0	14	1221	1	352	0	6.585981e-02	0	34	1	352	2		0	0	0	0	0	2	0	0.551847	13	1197	1	349	14		0	0	0	1	352	2	-2.277407	0	1	0	0		1	0	1	1	2.023901	0	0.230000	1.890000	0.228225	0.090000	0.050000	0.160000	0.100000	0.104912	0.090000	0	7.000000e-02	1.300000e-01
COL4A2	1284	broad.mit.edu	37	13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K	COL4A1_ENST00000543140.1_5'Flank|COL4A1_ENST00000375820.4_5'Flank	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2			80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		GGGGAGAGACCAGCGCGCGGT	0.662000																								0							SO:0001583	missense			ENST00000360467.5	1	1	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.176863	0.06380	.	.	ENSG00000134871	ENST00000400163;ENST00000360467;ENST00000257309	D;D	0.90676	-2.71;-2.69	3.37	2.41	0.29592	.	.	.	.	.	T	0.74943	0.3783	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.62388	-0.6865	9	0.02654	T	1	.	7.2031	0.25891	0.2652:0.7348:0.0:0.0	.	5	P08572	CO4A2_HUMAN	K	5	ENSP00000383027:Q5K;ENSP00000353654:Q5K	ENSP00000257309:Q5K	Q	+	1	0	COL4A2	109758264	0.001000	0.12720	0.007000	0.13788	0.117000	0.20001	0.298000	0.19120	1.882000	0.54519	0.561000	0.74099	CAG		TCGA-HZ-A77Q-01A-11D-A36O-08	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	1	0	1	30	221	0	85	0	1	0	287	0	85	2		0	0	0	0	0	2	1	1.000000	29	213	0	83	2		0	0	0	0	85	2	-20.000000	1	1	0	0		1	0	1	1	2.023901	0	0.230000	1.890000	0.228225	0.990000	0.720000	1.000000	1.000000	0.952557	0.990000	1	8.600000e-01	1
UPF3A	65110	broad.mit.edu	37	13	115057115	115057115	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	p.R232*(1)		16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)		TTAGAGAATTCgagaagagaa	0.448000																								1	Substitution - Nonsense(1)						SO:0001819	synonymous_variant			ENST00000375299.3	0	1	hg19	CCDS9543.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2	0	0	0	14	852	0	181	0	5.689728e-02	0	22	0	181	2		0	0	0	0	0	2	0	0.342963	14	839	1	180	17		0	0	0	0	181	2	-2.431920	0	1	0	0		1	0	1	1	2.023901	0	0.230000	1.890000	0.228225	0.140000	0.070000	0.230000	0.140000	0.149339	0.140000	0	1.000000e-01	1.900000e-01
MLNR	2862	broad.mit.edu	37	13	49796387	49796387	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor			14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)		AACTGCTGCTCGCAAGGAAGT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000218721.1	0	1	hg19	CCDS9414.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	0	0	0	9	681	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	0.993819	9	670	0	184	2		0	0	0	0	186	2	-3.016190	1	1	0	0		1	0	1	1	2.023901	0	0.230000	1.890000	0.228225	0.110000	0.050000	0.210000	0.120000	0.124755	0.110000	0	8.000000e-02	1.600000e-01
SUGT1	10910	broad.mit.edu	37	13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000343788.6	+	3	230	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000310528.8_Missense_Mutation_p.Q50K|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)			8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)			GTATTATTGTCAAAGAGCTTA	0.353000																								0							SO:0001583	missense			ENST00000343788.6	0	1	hg19	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383544	0.42207	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.59364	0.27;0.27	4.21	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.059373	0.64402	D	0.000002	T	0.43433	0.1247	N	0.21508	0.67	0.80722	D	1	P;P	0.36599	0.56;0.459	B;B	0.40659	0.336;0.175	T	0.37079	-0.9721	10	0.02654	T	1	-2.4714	15.6949	0.77488	0.0:1.0:0.0:0.0	.	50;50	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	50	ENSP00000367208:Q50K;ENSP00000308067:Q50K	ENSP00000308067:Q50K	Q	+	1	0	SUGT1	52129719	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.484000	0.66844	2.047000	0.60756	0.467000	0.42956	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2	0	0	0	8	361	0	72	0	6.346244e-01	0	94	0	72	2		0	0	0	0	0	2	1	0.988447	8	352	0	71	2		0	0	0	0	72	2	-3.125189	1	1	0	0		1	0	1	1	2.023901	0	0.230000	1.890000	0.228225	0.190000	0.080000	0.350000	0.190000	0.208538	0.190000	0	1.300000e-01	2.700000e-01
DACH1	1602	broad.mit.edu	37	13	72204773	72204773	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000359684.2	-	3	1046	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000305425.4_Silent_p.I349I|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.I349I			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1			41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)			CTTCTAATTTGATTTTTTTCA	0.408000																								0							SO:0001819	synonymous_variant			ENST00000359684.2	0	1	hg19																																																																																					TCGA-HZ-A77Q-01A-11D-A36O-08	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	0	0	0	15	817	0	238	0	3.905857e-04	0	2	0	238	2		0	0	0	0	0	2	1	0.999859	17	806	0	238	2		0	0	0	0	238	2	-1.993383	0	1	0	0		1	0	1	1	2.023901	0	0.230000	1.890000	0.228225	0.150000	0.080000	0.250000	0.160000	0.165764	0.150000	0	1.100000e-01	2.100000e-01
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1			15		Melanoma(154;0.128)			TCGGGGATGACGGGTACCTCT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000330710.5	1	1	hg19	CCDS45162.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	0	0	0	154	1216	1	411	0	7.005874e-01	0	21	1	411	2		0	0	0	0	0	2	1	1.000000	148	1169	1	409	13		0	0	0	1	411	2	-20.000000	1	0	121412	15	49	1	0	1	1	2.017727	0	0.230000	1.890000	0.226442	0.960000	0.820000	1.000000	1.000000	0.956347	0.960000	1	8.900000e-01	1
ACOT4	122970	broad.mit.edu	37	14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4			8					GAAGATCTCCCCAATAACATG	0.468000																								0							SO:0001583	missense			ENST00000326303.4	0	1	hg19	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295226	0.60086	.	.	ENSG00000177465	ENST00000326303	T	0.50277	0.75	5.15	5.15	0.70609	.	0.053368	0.85682	D	0.000000	T	0.76564	0.4005	H	0.95043	3.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.83418	0.0031	10	0.87932	D	0	-8.5859	13.022	0.58794	0.0:0.9195:0.0:0.0805	.	197	Q8N9L9	ACOT4_HUMAN	H	197	ENSP00000323071:P197H	ENSP00000323071:P197H	P	+	2	0	ACOT4	73130291	0.997000	0.39634	0.887000	0.34795	0.487000	0.33371	4.982000	0.63825	2.394000	0.81467	0.491000	0.48974	CCC		TCGA-HZ-A77Q-01A-11D-A36O-08	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	0	0	0	10	781	0	210	0	3.010205e-03	0	6	0	210	2		0	0	0	0	0	2	1	0.996559	10	765	0	208	2		0	0	0	0	210	2	-1.976808	0	1	0	0		1	0	1	1	2.017727	0	0.230000	1.890000	0.226442	0.110000	0.050000	0.190000	0.110000	0.119550	0.110000	0	7.000000e-02	1.500000e-01
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3			104		Renal(4;0.00876)			CTTGAATGGACGCCTGCCAGA	0.522000																								0							SO:0001583	missense			ENST00000554719.1	1	1	hg19	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587372	0.96590	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76968	-1.06;-1.06	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;P	0.89917	1.0;0.813	D;B	0.91635	0.999;0.076	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	C	1027;1016;654;654	ENSP00000451648:R654C;ENSP00000338349:R654C	.	R	+	1	0	NRXN3	78504379	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.818000	0.86416	2.854000	0.98071	0.655000	0.94253	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	1	0	1	43	300	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	43	296	0	82	2		0	0	0	0	82	2	-18.250690	1	0	121412	3	39	1	0	1	1	2.017727	0	0.230000	1.890000	0.226442	0.990000	0.800000	1.000000	1.000000	0.975621	0.990000	1	9.300000e-01	1
OCA2	4948	broad.mit.edu	37	15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II			85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)			GTGGAGTCCACGTGGCTGCTA	0.652000									Oculocutaneous Albinism															0							SO:0001583	missense	Familial Cancer Database		ENST00000354638.3	1	1	hg19	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	4.620	0.115289	0.08831	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000431101	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.54	-10.1	0.00402	.	2.689910	0.01503	N	0.017593	T	0.31857	0.0810	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.006	T	0.27054	-1.0085	10	0.33940	T	0.23	4.2318	0.9888	0.01452	0.1922:0.1624:0.2845:0.3609	.	223;223	Q04671-2;Q04671	.;P_HUMAN	M	223	ENSP00000346659:V223M;ENSP00000261276:V223M;ENSP00000372457:V223M;ENSP00000415431:V223M	ENSP00000261276:V223M	V	-	1	0	OCA2	25937278	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.018000	0.03626	-2.789000	0.00357	-0.794000	0.03295	GTG		TCGA-HZ-A77Q-01A-11D-A36O-08	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	1	0	1	17	94	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	0.999977	17	93	0	27	2		0	0	0	0	27	2	-20.000000	1	0	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.990000	0.820000	1.000000	1.000000	0.988047	0.990000	1	9.900000e-01	1
HERC2	8924	broad.mit.edu	37	15	28478313	28478313	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			CTTCGTTCTCGAATTATCTTT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000261609.7	0	1	hg19	CCDS10021.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	0	0	15	637	0	163	0	2.005722e-02	0	9	0	163	2		0	0	0	0	0	2	1	0.999811	15	604	0	163	2		0	0	0	0	163	2	-2.936309	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.200000	0.110000	0.340000	0.200000	0.219862	0.200000	0	1.500000e-01	2.700000e-01
SLC27A2	11001	broad.mit.edu	37	15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L|SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2			25		all_lung(180;0.00177)			GAACTGCTTCGGTATTTATGC	0.433000																								0							SO:0001583	missense			ENST00000267842.5	0	1	hg19	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964749	0.74131	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.52754	0.65;0.88;0.88	5.28	3.43	0.39272	AMP-dependent synthetase/ligase (1);	0.114447	0.64402	D	0.000011	T	0.77611	0.4156	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.989	T	0.81642	-0.0840	10	0.87932	D	0	.	9.6524	0.39906	0.167:0.0:0.833:0.0	.	264;317	Q6PF09;O14975	.;S27A2_HUMAN	L	264;317;82	ENSP00000370289:R264L;ENSP00000267842:R317L;ENSP00000444549:R82L	ENSP00000267842:R317L	R	+	2	0	SLC27A2	48284830	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	5.907000	0.69908	0.827000	0.34685	-0.251000	0.11542	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	0	0	0	14	625	0	164	0	3.346335e-03	0	4	0	164	2		0	0	0	0	0	2	1	0.999730	13	617	0	163	2		0	0	0	0	164	2	-2.366194	0	1	121412	5	41	1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.190000	0.100000	0.330000	0.190000	0.210706	0.190000	0	1.400000e-01	2.600000e-01
MNS1	55329	broad.mit.edu	37	15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1			20					TCATTTTCTTGAACTTTTGCC	0.348000																								0							SO:0001583	missense			ENST00000260453.3	0	1	hg19	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064587	0.08388	.	.	ENSG00000138587	ENST00000260453	T	0.08370	3.1	5.44	5.44	0.79542	.	0.324258	0.33364	N	0.004991	T	0.06600	0.0169	L	0.31065	0.9	0.22305	N	0.999212	B	0.06786	0.001	B	0.13407	0.009	T	0.37753	-0.9692	10	0.05833	T	0.94	-8.4625	14.7812	0.69769	0.0:0.0:0.8554:0.1446	.	289	Q8NEH6	MNS1_HUMAN	K	289	ENSP00000260453:Q289K	ENSP00000260453:Q289K	Q	-	1	0	MNS1	54523166	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.786000	0.55431	2.529000	0.85273	0.637000	0.83480	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	0	0	0	10	598	1	141	0	9.109130e-03	0	8	1	141	2		0	0	0	0	0	2	0	0.152594	10	591	1	140	16		0	0	0	1	141	2	-2.676535	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.140000	0.070000	0.270000	0.140000	0.164575	0.140000	0	1.000000e-01	2.000000e-01
CGNL1	84952	broad.mit.edu	37	15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1			60					AGAATTAATACAGATGACAGG	0.443000																								0							SO:0001583	missense			ENST00000281282.5	0	1	hg19	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322702	0.23994	.	.	ENSG00000128849	ENST00000281282	T	0.40476	1.03	5.79	4.88	0.63580	.	0.129534	0.35646	N	0.003062	T	0.23806	0.0576	N	0.03608	-0.345	0.21105	N	0.99979	B	0.02656	0.0	B	0.01281	0.0	T	0.27468	-1.0073	10	0.87932	D	0	-8.9807	14.9253	0.70871	0.0:0.9316:0.0:0.0684	.	380	Q0VF96	CGNL1_HUMAN	K	380	ENSP00000281282:T380K	ENSP00000281282:T380K	T	+	2	0	CGNL1	55518628	0.941000	0.31946	0.006000	0.13384	0.196000	0.23810	3.113000	0.50376	1.448000	0.47680	0.655000	0.94253	ACA		TCGA-HZ-A77Q-01A-11D-A36O-08	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	0	0	0	8	350	0	97	0	1.717437e-02	0	8	0	97	2		0	0	0	0	0	2	1	0.988945	8	345	0	96	2		0	0	0	0	97	2	-2.696811	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.200000	0.090000	0.400000	0.200000	0.223560	0.200000	0	1.400000e-01	2.900000e-01
MYO9A	4649	broad.mit.edu	37	15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					TCTGAACCCTGAATTTCCAGA	0.358000																								0							SO:0001583	missense			ENST00000356056.5	0	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	8.135	0.783992	0.16189	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.82893	-1.65;-1.66;-1.65	4.91	1.66	0.24008	.	.	.	.	.	T	0.61261	0.2333	N	0.17082	0.46	0.24994	N	0.991511	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.50947	-0.8767	9	0.02654	T	1	.	3.1569	0.06508	0.0942:0.1287:0.5011:0.276	.	1168;1187	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	K	1187;1187;1168	ENSP00000348349:Q1187K;ENSP00000399162:Q1187K;ENSP00000398250:Q1168K	ENSP00000348349:Q1187K	Q	-	1	0	MYO9A	69978339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.069000	0.41481	1.044000	0.40200	0.585000	0.79938	CAG		TCGA-HZ-A77Q-01A-11D-A36O-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	0	0	12	1109	0	233	0	4.271997e-04	0	3	0	233	2		0	0	0	0	0	2	1	0.999020	12	1092	0	230	2		0	0	0	0	233	2	-2.287399	0	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.090000	0.040000	0.170000	0.100000	0.109402	0.090000	0	6.000000e-02	1.300000e-01
BNC1	646	broad.mit.edu	37	15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1			56					AGGCAGGCTAGCAAGGCTCTG	0.537000																								0							SO:0001583	missense			ENST00000345382.2	1	1	hg19	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520519	0.27211	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.44083	0.93	5.93	4.99	0.66335	.	0.467668	0.23420	N	0.048377	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	0.999994	B;P	0.39282	0.4;0.666	B;B	0.30029	0.11;0.102	T	0.09885	-1.0654	10	0.19147	T	0.46	-21.1832	10.7119	0.45988	0.0757:0.1342:0.7901:0.0	.	913;920	F5GY04;Q01954	.;BNC1_HUMAN	V	920;913	ENSP00000307041:A920V	ENSP00000307041:A920V	A	-	2	0	BNC1	81717424	0.623000	0.27094	0.936000	0.37596	0.710000	0.40934	1.984000	0.40658	1.454000	0.47793	0.557000	0.71058	GCT		TCGA-HZ-A77Q-01A-11D-A36O-08	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	1	0	0	76	816	0	236	0	0	0	1	0	236	2		0	0	0	0	0	2	1	1.000000	75	803	0	235	2		0	0	0	0	236	2	-18.308170	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.740000	0.590000	0.930000	0.740000	0.750299	0.740000	0	6.600000e-01	8.300000e-01
SEC11A	23478	broad.mit.edu	37	15	85224008	85224008	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000560266.1_Silent_p.R123R|SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)			1			BRCA - Breast invasive adenocarcinoma(143;0.199)		TAGAGGCCTCGGTCATCAACC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000268220.7	0	1	hg19	CCDS45340.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	0	0	0	10	750	1	187	0	1.435570e-01	0	433	1	187	10		0	0	0	0	0	2	0	0.192277	9	735	1	186	15		0	0	0	1	187	2	-1.763214	0	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.110000	0.050000	0.220000	0.120000	0.133834	0.110000	0	8.000000e-02	1.600000e-01
PDE8A	5151	broad.mit.edu	37	15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K|PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K			O60658	PDE8A_HUMAN	phosphodiesterase 8A			25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)	Caffeine(DB00201)|Ketotifen(DB00920)	GAGATTTCATCAAGATCAACT	0.363000																								0							SO:0001583	missense			ENST00000310298.4	0	1	hg19	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056234	0.36277	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.70631	-0.5;-0.5;-0.46	5.65	4.73	0.59995	.	0.201377	0.43579	D	0.000552	T	0.58680	0.2139	L	0.29908	0.895	0.37679	D	0.92342	B;B	0.12013	0.005;0.0	B;B	0.12156	0.007;0.001	T	0.56817	-0.7916	10	0.23891	T	0.37	.	14.3705	0.66836	0.0:0.8508:0.1492:0.0	.	77;77	O60658-2;O60658	.;PDE8A_HUMAN	K	77	ENSP00000311453:Q77K;ENSP00000378056:Q77K;ENSP00000340679:Q77K	ENSP00000311453:Q77K	Q	+	1	0	PDE8A	83408647	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.930000	0.48924	1.368000	0.46115	0.511000	0.50034	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	0	0	0	8	439	0	85	0	1.761075e-02	0	10	0	85	2		0	0	0	0	0	2	1	0.988906	8	433	0	85	2		0	0	0	0	85	2	-3.026299	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.160000	0.070000	0.320000	0.160000	0.181504	0.160000	0	1.100000e-01	2.300000e-01
AKAP13	11214	broad.mit.edu	37	15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13			98					AGAGCAAGTTCAATTTCTGAA	0.448000													Melanoma(94;603 1453 3280 32295 32951)											0							SO:0001587	stop_gained			ENST00000394518.2	0	1	hg19	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	42	9.723090	0.99248	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	.	.	.	5.77	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999985	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9761	0.35937	0.0:0.8295:0.0:0.1705	.	.	.	.	X	1363;1363;1362;1362	.	ENSP00000354718:S1363X	S	+	2	0	AKAP13	83929985	0.001000	0.12720	0.003000	0.11579	0.539000	0.34962	0.903000	0.28475	0.796000	0.33947	0.591000	0.81541	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	0	0	9	380	0	98	0	1.719001e-01	0	29	0	98	2		0	0	0	0	0	2	1	0.993929	8	375	0	97	2		0	0	0	0	98	2	-3.651328	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.210000	0.100000	0.390000	0.200000	0.228642	0.210000	0	1.400000e-01	2.900000e-01
FANCI	55215	broad.mit.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I			31	Lung NSC(78;0.0472)|all_lung(78;0.089)				ACAATTCTGTCGCCAATGAAA	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia															0							SO:0001819	synonymous_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000310775.7	0	1	hg19	CCDS45346.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	0	0	0	11	661	0	173	0	6.662564e-03	0	7	0	173	2		0	0	0	0	0	2	1	0.998204	10	653	0	171	2		0	0	0	0	173	2	-2.451680	0	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.140000	0.070000	0.270000	0.140000	0.162692	0.140000	0	1.000000e-01	2.000000e-01
BLM	641	broad.mit.edu	37	15	91306341	91306341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like			51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)		TAGAGGCGATCAATGCTGCAC	0.363000			Mis, N, F			leukemia, lymphoma, skin squamous cell , other cancers		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		L, E	0							SO:0001819	synonymous_variant	Familial Cancer Database		ENST00000355112.3	0	1	hg19	CCDS10363.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0	0	0	13	707	0	171	0	0	0	1	0	171	2		0	0	0	0	0	2	1	0.999465	12	693	0	169	2		0	0	0	0	171	2	-2.536566	1	1	0	0		1	1	2	3	2.030134	0	0.230000	1.890000	0.231767	0.160000	0.080000	0.280000	0.160000	0.176371	0.160000	0	1.100000e-01	2.100000e-01
SSTR5	6755	broad.mit.edu	37	16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M|SSTR5_ENST00000562758.1_Intron|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5			9		Hepatocellular(780;0.00369)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTACTTCTTCGTGGTCATCCT	0.622000																								0							SO:0001583	missense			ENST00000293897.4	1	1	hg19	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534704	0.45073	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.72505	-0.66;-0.66	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.381500	0.26654	N	0.023198	T	0.77974	0.4211	M	0.82323	2.585	0.42578	D	0.993203	D	0.53619	0.961	P	0.50162	0.633	T	0.81911	-0.0716	10	0.59425	D	0.04	.	12.2855	0.54789	0.0858:0.0:0.9142:0.0	.	289	P35346	SSR5_HUMAN	M	289	ENSP00000380680:V289M;ENSP00000293897:V289M	ENSP00000293897:V289M	V	+	1	0	SSTR5	1069734	1.000000	0.71417	0.922000	0.36590	0.009000	0.06853	4.534000	0.60622	2.202000	0.70862	0.561000	0.74099	GTG		TCGA-HZ-A77Q-01A-11D-A36O-08	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1	1	0	1	33	168	0	70	0	2.873563e-02	1	1	0	70	2		0	0	0	0	0	2	1	1.000000	32	163	0	69	2		0	0	0	0	70	2	-20.000000	1	1	120854	1	32	1	0	1	1	2.023051	0	0.230000	1.890000	0.228225	0.990000	0.990000	1.000000	1.000000	0.998755	0.990000	1	9.900000e-01	1
RSL1D1	26156	broad.mit.edu	37	16	11933615	11933615	+	Silent	SNP	G	G	T	rs144452977	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1			15					TTTCGTCTTCGGATTCATTTG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000571133.1	0	1	hg19	CCDS10551.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	0	0	0	10	806	0	230	0	9.122852e-01	0	345	0	230	2		0	0	0	0	0	2	1	0.996524	10	788	0	227	2		0	0	0	0	230	2	-1.921123	0	1	0	0		1	0	1	1	2.023051	0	0.230000	1.890000	0.228225	0.100000	0.050000	0.190000	0.100000	0.116180	0.100000	0	7.000000e-02	1.500000e-01
KIAA0430	9665	broad.mit.edu	37	16	15719310	15719310	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000551742.1_Silent_p.S623S	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430			40					CTTTGGCACTGGAAGATTGTT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000396368.3	0	1	hg19	CCDS10562.2																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	0	0	0	8	604	0	144	0	1.174684e-02	0	11	0	144	2		0	0	0	0	0	2	1	0.988854	8	597	0	144	2		0	0	0	0	144	2	-2.278812	0	1	0	0		1	0	1	1	2.023051	0	0.230000	1.890000	0.228225	0.110000	0.050000	0.210000	0.120000	0.126464	0.110000	0	7.000000e-02	1.700000e-01
ZNF200	7752	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200			17					CCTTGTCCTCCGATTTCGAGT	0.413000																								0							SO:0001583	missense			ENST00000431561.3	0	1	hg19	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	7.491	0.650617	0.14516	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T	0.07216	3.21;3.24;3.25;3.31	5.17	2.19	0.27852	.	0.401360	0.18508	N	0.139141	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;B;B	0.31485	0.218;0.218;0.325	B;B;B	0.32724	0.072;0.072;0.151	T	0.31392	-0.9945	10	0.66056	D	0.02	-20.7119	6.6597	0.23007	0.0:0.631:0.0:0.369	.	245;246;245	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	L	246;245;245;245;246	ENSP00000380079:R246L;ENSP00000380077:R245L;ENSP00000380080:R245L;ENSP00000395723:R246L	ENSP00000380077:R245L	R	-	2	0	ZNF200	3214344	0.037000	0.19845	0.016000	0.15963	0.707000	0.40811	0.023000	0.13533	0.348000	0.23949	0.455000	0.32223	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1	0	0	0	7	561	0	141	0	1.752641e-02	0	14	0	141	2		0	0	0	0	0	2	1	0.979577	7	552	0	141	2		0	0	0	0	141	2	-2.287943	0	1	0	0		1	0	1	1	2.023051	0	0.230000	1.890000	0.228225	0.110000	0.040000	0.210000	0.110000	0.121039	0.110000	0	7.000000e-02	1.600000e-01
RPGRIP1L	23322	broad.mit.edu	37	16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000379925.3	-	3	255	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R69S	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	p.R69C(1)		46		all_cancers(37;0.0973)			TCCTGCTTGCGGGCATGCTGT	0.368000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379925.3	0	1	hg19	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	6.569	0.473342	0.12461	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.87887	-2.31;-2.31	5.73	0.185	0.15096	.	0.439409	0.24615	N	0.037005	T	0.78329	0.4266	L	0.48642	1.525	0.25924	N	0.983084	B;B;B;B	0.18310	0.005;0.007;0.027;0.01	B;B;B;B	0.15052	0.005;0.011;0.011;0.012	T	0.62765	-0.6785	10	0.27082	T	0.32	-0.0133	6.443	0.21861	0.2592:0.0:0.553:0.1878	.	69;69;69;69	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	S	69	ENSP00000369257:R69S;ENSP00000262135:R69S	ENSP00000262135:R69S	R	-	1	0	RPGRIP1L	52287589	0.994000	0.37717	0.999000	0.59377	0.978000	0.69477	0.921000	0.28718	0.363000	0.24346	-0.244000	0.11960	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	0	0	0	12	875	1	205	0	1.827332e-02	0	14	1	205	2		0	0	0	0	0	2	0	0.265888	11	859	1	205	16		0	0	0	1	205	2	-1.683075	0	1	0	0		1	0	1	1	2.023051	0	0.230000	1.890000	0.228225	0.110000	0.060000	0.200000	0.120000	0.126380	0.110000	0	8.000000e-02	1.600000e-01
CLEC18B	497190	broad.mit.edu	37	16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B			27					TGAAGCCTGCAGCTCCACGCA	0.597000																								0							SO:0001583	missense			ENST00000339953.5	0	1	hg19	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	a	16.96	3.265272	0.59431	.	.	ENSG00000140839	ENST00000429489;ENST00000339953	T	0.60040	0.22	3.64	3.64	0.41730	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.101710	0.40908	D	0.000981	T	0.70133	0.3189	M	0.76727	2.345	0.29629	N	0.845598	D;D	0.64830	0.994;0.994	D;D	0.65323	0.934;0.913	T	0.67511	-0.5652	10	0.87932	D	0	.	8.5986	0.33732	1.0:0.0:0.0:0.0	.	411;420	C9JSV1;Q6UXF7	.;CL18B_HUMAN	Q	411;420	ENSP00000341051:L420Q	ENSP00000341051:L420Q	L	-	2	0	CLEC18B	73001020	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.380000	0.79704	1.519000	0.48950	0.352000	0.21897	CTG		TCGA-HZ-A77Q-01A-11D-A36O-08	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	0	0	0	20	361	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	0.999992	19	339	0	155	2		0	0	0	0	121	2	-19.991740	1	1	0	0		1	0	1	1	2.015849	0	0.230000	1.890000	0.226442	0.450000	0.280000	0.670000	0.450000	0.470347	0.450000	0	3.600000e-01	5.700000e-01
SDR42E1	93517	broad.mit.edu	37	16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1			10					GACACCGTCGCCTCTGTCCAG	0.557000																								0							SO:0001583	missense			ENST00000328945.5	1	1	hg19	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	8.554	0.876151	0.17395	.	.	ENSG00000184860	ENST00000328945;ENST00000532128	D;D	0.86297	-2.1;-2.1	5.76	4.81	0.61882	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.402695	0.32459	N	0.006073	D	0.83695	0.5310	L	0.58510	1.815	0.09310	N	0.999999	B	0.12630	0.006	B	0.18263	0.021	T	0.73616	-0.3926	10	0.41790	T	0.15	-2.9917	10.2802	0.43534	0.0:0.8505:0.0:0.1495	.	174	Q8WUS8	D42E1_HUMAN	D	174;171	ENSP00000332407:G174D;ENSP00000434529:G171D	ENSP00000332407:G174D	G	-	2	0	SDR42E1	80590878	0.002000	0.14202	0.002000	0.10522	0.006000	0.05464	1.918000	0.40006	1.431000	0.47355	0.655000	0.94253	GGC		TCGA-HZ-A77Q-01A-11D-A36O-08	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	1	0	0	30	517	0	143	1	7.210051e-02	3	5	0	143	2		0	0	0	0	0	2	1	1.000000	29	508	0	140	2		0	0	0	0	143	2	-20.000000	1	1	120994	6	40	1	0	1	1	2.015849	0	0.230000	1.890000	0.226442	0.470000	0.320000	0.650000	0.470000	0.485706	0.470000	0	3.900000e-01	5.700000e-01
MAP2K4	6416	broad.mit.edu	37	17	12013744	12013744	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000353533.5	+	6	748		c.e6+1		MAP2K4_ENST00000581941.1_Splice_Site|MAP2K4_ENST00000415385.3_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	p.0?(10)|p.?(1)		100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)			ATTCACAGAGGTGGGTATGGA	0.308000			D, Mis, N		pancreatic, breast, colorectal										Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)						SO:0001630	splice_region_variant			ENST00000353533.5	1	1	hg19	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366763	0.82463	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1455	0.89653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP2K4	11954469	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.110000	0.94302	2.639000	0.89480	0.557000	0.71058	.		TCGA-HZ-A77Q-01A-11D-A36O-08	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	0	47	403	0	99	0	0	1	0	0	99	2	1	1	58	535	0	543	2	1	1.000000	47	399	0	99	2		0	0	0	0	99	2	-20.000000	1	0	0	0		1	0	1	1	1.796019	1	0.230000	1.890000	0.129944	0.780000	0.590000	0.970000	0.790000	0.793958	0.780000	0	6.800000e-01	9.000000e-01
WSB1	26118	broad.mit.edu	37	17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000348811.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000583193.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1			3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)		GAAATGTGGTCGTGAAAATTG	0.398000																								0							SO:0001583	missense			ENST00000262394.2	0	1	hg19	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368309	0.42003	.	.	ENSG00000109046	ENST00000262394	T	0.43294	0.95	5.95	3.89	0.44902	.	0.455607	0.22917	N	0.054078	T	0.32133	0.0819	N	0.20986	0.625	0.80722	D	1	B;B	0.19073	0.004;0.033	B;B	0.19946	0.004;0.027	T	0.04635	-1.0937	10	0.42905	T	0.14	-15.6797	15.5864	0.76485	0.0:0.7304:0.2696:0.0	.	35;35	B4DTL1;Q9Y6I7	.;WSB1_HUMAN	S	35	ENSP00000262394:R35S	ENSP00000262394:R35S	R	+	1	0	WSB1	22653003	0.986000	0.35501	1.000000	0.80357	0.984000	0.73092	1.896000	0.39789	0.792000	0.33850	0.655000	0.94253	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	0	0	0	13	862	0	230	0	1.470806e-01	0	42	0	230	2		0	0	0	0	0	2	0	0.479377	11	848	1	229	14		0	0	0	0	230	2	-2.173954	0	1	0	0		1						0.230000	1.890000									0	0
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1			19					TCAGCTGGCCCGCTCAGCTCA	0.602000																								0							SO:0001583	missense			ENST00000264659.7	1	1	hg19	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413836	0.62511	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.46451	0.87	4.69	4.69	0.59074	.	0.232419	0.43260	D	0.000583	T	0.52403	0.1732	L	0.43152	1.355	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	P;P;P;P	0.58266	0.836;0.677;0.677;0.677	T	0.52132	-0.8616	10	0.51188	T	0.08	-29.8471	16.9082	0.86133	0.0:1.0:0.0:0.0	.	182;748;748;876	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	R	876;657;730	ENSP00000264659:G876R	ENSP00000264659:G876R	G	-	1	0	SRCIN1	33961749	0.740000	0.28207	0.745000	0.31077	0.073000	0.16967	2.370000	0.44240	2.606000	0.88127	0.561000	0.74099	GGG		TCGA-HZ-A77Q-01A-11D-A36O-08	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	1	0	1	32	231	0	81	1	7.911057e-02	2	2	0	81	2		0	0	0	0	0	2	1	1.000000	31	227	0	75	2		0	0	0	0	81	2	-2.559342	1	1	120836	3	37	1	1	2	3	2.035258	0	0.230000	1.890000	0.233526	0.990000	0.750000	1.000000	1.000000	0.963773	0.990000	1	8.900000e-01	1
KRT24	192666	broad.mit.edu	37	17	38857542	38857542	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24			29		Breast(137;0.00526)			ACAGCTCGTTCTCATACCTGG	0.512000													GBM(61;380 1051 14702 23642 31441)											0							SO:0001819	synonymous_variant			ENST00000264651.2	1	1	hg19	CCDS11372.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	1	0	0	19	143	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	0.999992	18	140	0	25	2		0	0	0	0	26	2	-3.320285	1	1	0	0		1	1	2	3	2.035258	0	0.230000	1.890000	0.233526	0.990000	0.650000	1.000000	1.000000	0.936532	0.990000	1	8.200000e-01	1
KRT33B	3884	broad.mit.edu	37	17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B			21		Breast(137;0.000496)			TCCGCCAGCTGGGACTCCACG	0.617000																								0							SO:0001583	missense			ENST00000251646.3	0	1	hg19	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	17.10	3.304063	0.60305	.	.	ENSG00000131738	ENST00000251646	D	0.89196	-2.48	4.29	4.29	0.51040	Filament (1);	0.000000	0.64402	D	0.000010	D	0.95544	0.8552	H	0.97023	3.925	0.32020	N	0.600921	D	0.55172	0.97	P	0.59012	0.85	D	0.95999	0.8992	10	0.87932	D	0	.	14.3715	0.66843	0.0:0.1494:0.8506:0.0	.	324	Q14525	KT33B_HUMAN	K	324	ENSP00000251646:Q324K	ENSP00000251646:Q324K	Q	-	1	0	KRT33B	36774684	0.605000	0.26941	0.960000	0.40013	0.526000	0.34562	0.833000	0.27504	2.666000	0.90696	0.650000	0.86243	CAG		TCGA-HZ-A77Q-01A-11D-A36O-08	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	0	0	0	16	293	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	0.999838	15	258	0	114	2		0	0	0	0	96	2	-3.219557	1	1	0	0		1	0	1	1	2.025332	0	0.230000	1.890000	0.228225	0.450000	0.270000	0.690000	0.450000	0.469055	0.450000	0	3.500000e-01	5.700000e-01
NBR1	4077	broad.mit.edu	37	17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1			24		Breast(137;0.00086)			TGTTGGTGTCCGCTACCAGTG	0.438000																								0							SO:0001583	missense			ENST00000422280.1	0	1	hg19	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.752959	0.69648	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	5.96	5.96	0.96718	Zinc finger, ZZ-type (4);	0.054076	0.85682	D	0.000000	D	0.98893	0.9625	H	0.95850	3.73	0.50632	D	0.999887	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	1.0;0.967;1.0	D	0.98914	1.0781	10	0.62326	D	0.03	-12.2893	20.422	0.99049	0.0:1.0:0.0:0.0	.	207;228;228	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	S	228;207;228;228;228	ENSP00000411250:R228S;ENSP00000437545:R207S;ENSP00000343479:R228S;ENSP00000373963:R228S	ENSP00000343479:R228S	R	+	1	0	NBR1	38595332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.607000	0.61133	2.832000	0.97577	0.655000	0.94253	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	0	0	0	9	607	0	151	0	2.246973e-01	0	55	0	151	2		0	0	0	0	0	2	1	0.993685	9	594	0	148	2		0	0	0	0	151	2	-1.844675	0	1	0	0		1	0	1	1	2.025332	0	0.230000	1.890000	0.228225	0.120000	0.060000	0.230000	0.120000	0.139612	0.120000	0	9.000000e-02	1.800000e-01
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	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	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	38	188	0	75	1	9.992211e-01	11	46	0	75	2	1	1	107	873	0	816	2	1	1.000000	37	183	0	75	2		0	0	0	0	75	2	-2.656564	1	1	121412	1	37	1	0	1	1	1.796019	1	0.230000	1.890000	0.129944	0.940000	0.780000	1.000000	0.990000	0.936625	0.940000	1	8.700000e-01	9.900000e-01
RNF213	57674	broad.mit.edu	37	17	78338344	78338344	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		ACGTCTTCTTACTAGACAAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000582970.1	1	1	hg19	CCDS58606.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	1	0	0	17	188	0	52	1	8.406251e-01	6	33	0	52	2	1	1	84	483	0	416	2	1	0.999965	17	183	0	52	2		0	0	0	0	52	2	-19.999080	1	1	0	0		1	1	2	3	2.031530	0	0.230000	1.890000	0.233526	0.730000	0.440000	1.000000	1.000000	0.748015	0.730000	0	5.700000e-01	9.300000e-01
EPB41L3	23136	broad.mit.edu	37	18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3			105					TCAAATTGTTCAAACTAAATA	0.323000																								0							SO:0001587	stop_gained			ENST00000341928.2	0	1	hg19	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	42	9.258930	0.99117	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	6.06	6.06	0.98353	.	0.129804	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6186	0.99473	0.0:1.0:0.0:0.0	.	.	.	.	X	357;248;357;248;357;357	.	ENSP00000343158:E357X	E	-	1	0	EPB41L3	5414355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.876000	0.98609	0.643000	0.83706	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	0	0	0	12	484	0	96	0	3.968520e-01	0	53	0	96	2		0	0	0	0	0	2	1	0.999056	11	478	0	95	2		0	0	0	0	96	2	-2.531925	1	1	0	0		1	0	1	1	1.923824	0	0.230000	1.890000	0.192872	0.200000	0.100000	0.330000	0.200000	0.214734	0.200000	0	1.500000e-01	2.700000e-01
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000269491.1	+	7	902	c.902G>T	c.(901-903)cGg>cTg	p.R301L	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R321L	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12			26					TCCTTCCCCCGGTTCACCCTG	0.448000																								0							SO:0001583	missense			ENST00000269491.1	0	1	hg19	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304108	0.40795	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84223	-1.82;-1.82	5.81	1.97	0.26223	Serpin domain (3);	0.299003	0.29246	N	0.012717	D	0.87111	0.6096	M	0.91872	3.25	0.09310	N	0.999998	P;B	0.37781	0.608;0.182	B;B	0.38655	0.278;0.098	T	0.80381	-0.1406	10	0.87932	D	0	.	10.0287	0.42087	0.5897:0.0:0.4103:0.0	.	321;301	Q3SYB4;Q96P63	.;SPB12_HUMAN	L	301;321	ENSP00000269491:R301L;ENSP00000372218:R321L	ENSP00000269491:R301L	R	+	2	0	SERPINB12	59384908	0.000000	0.05858	0.999000	0.59377	0.943000	0.58893	0.120000	0.15647	0.135000	0.18707	-0.290000	0.09829	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	0	0	0	14	786	0	250		0	0	0	0	250	2		0	0	0	0	0	2	1	0.999715	13	772	0	249	2		0	0	0	0	250	2	-1.902544	0	1	0	0		1	0	1	1	1.803354	1	0.230000	1.890000	0.129944	0.130000	0.070000	0.220000	0.130000	0.142723	0.130000	0	1.000000e-01	1.800000e-01
RTTN	25914	broad.mit.edu	37	18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin			80		Esophageal squamous(42;0.129)			ATTGCTTTCTGAATTTCTATC	0.254000																								0							SO:0001587	stop_gained			ENST00000255674.6	0	1	hg19	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	41	8.763837	0.98945	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.52	3.73	0.42828	.	1.265960	0.05147	N	0.495368	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1648	0.48537	0.2339:0.0:0.7661:0.0	.	.	.	.	X	1515	.	ENSP00000255674:S1515X	S	-	2	0	RTTN	65893588	0.407000	0.25352	0.006000	0.13384	0.034000	0.12701	1.450000	0.35134	0.303000	0.22785	-1.164000	0.01763	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	0	0	0	13	633	0	150	0	4.978073e-04	0	2	0	150	2		0	0	0	0	0	2	1	0.999497	12	627	0	150	2		0	0	0	0	150	2	-2.646924	1	1	0	0		1	0	1	1	1.803354	1	0.230000	1.890000	0.129944	0.150000	0.080000	0.250000	0.150000	0.164537	0.150000	0	1.100000e-01	2.100000e-01
ZNF407	55628	broad.mit.edu	37	18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407			67		Esophageal squamous(42;0.131)|Prostate(75;0.173)			GTACAGTTTTGGTCGATTTGA	0.423000																								0							SO:0001583	missense			ENST00000299687.5	0	1	hg19	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987151	0.53934	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.13196	2.61;3.04	5.84	4.06	0.47325	.	0.195350	0.36519	N	0.002550	T	0.20007	0.0481	N	0.19112	0.55	0.32517	N	0.536824	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.985	T	0.03060	-1.1077	10	0.59425	D	0.04	.	9.7588	0.40519	0.2094:0.0:0.7906:0.0	.	1354;1354;1354	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	C	1354	ENSP00000299687:G1354C;ENSP00000310359:G1354C	ENSP00000299687:G1354C	G	+	1	0	ZNF407	70476023	0.999000	0.42202	1.000000	0.80357	0.979000	0.70002	1.301000	0.33447	2.754000	0.94517	0.655000	0.94253	GGT		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	0	0	0	11	551	0	149	0	2.841389e-03	0	4	0	149	2		0	0	0	0	0	2	1	0.998204	11	542	0	147	2		0	0	0	0	149	2	-2.256605	0	1	0	0		1	0	1	1	1.803354	1	0.230000	1.890000	0.129944	0.150000	0.070000	0.250000	0.150000	0.161783	0.150000	0	1.100000e-01	2.100000e-01
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A			15					CTGTTTGGTTCGGCCTGCGGG	0.642000																								0							SO:0001587	stop_gained			ENST00000187762.2	0	1	hg19	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.198085	0.38806	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.12	1.93	0.25924	.	0.520628	0.22109	N	0.064515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.1108	7.7281	0.28771	0.161:0.7511:0.0:0.0879	.	.	.	.	X	251	.	ENSP00000187762:S251X	S	+	2	0	TMEM38A	16660034	0.085000	0.21516	0.001000	0.08648	0.069000	0.16628	2.684000	0.46951	0.227000	0.20999	0.462000	0.41574	TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	0	0	0	13	963	0	294	0	4.344392e-03	0	7	0	294	2		0	0	0	0	0	2	1	0.999467	13	945	0	288	2		0	0	0	0	294	2	-2.165208	0	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.110000	0.060000	0.190000	0.120000	0.123759	0.110000	0	8.000000e-02	1.600000e-01
MYO9B	4650	broad.mit.edu	37	19	17213368	17213368	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000594824.1	+	2	987		c.e2+1		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB			39					TGTGCTGGAGGTGAGCGGGGA	0.607000																								0							SO:0001630	splice_region_variant			ENST00000594824.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.1	4.091562	0.76756	.	.	ENSG00000099331	ENST00000397274	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9365	0.89013	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO9B	17074368	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.459000	0.97638	2.480000	0.83734	0.655000	0.94253	.		TCGA-HZ-A77Q-01A-11D-A36O-08	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1	0	0	0	11	42	0	9	0	0	1	0	0	9	2		0	0	0	0	0	2	1	0.998935	11	42	0	9	2		0	0	0	0	9	2	-19.994960	1	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.990000	0.930000	1.000000	1.000000	0.995491	0.990000	1	9.900000e-01	1
ZNF14	7561	broad.mit.edu	37	19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14			32		Renal(1328;0.0474)			ACATTCATATGGTTTTTCTCC	0.393000																								0							SO:0001583	missense			ENST00000344099.3	0	1	hg19	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448100	0.63178	.	.	ENSG00000105708	ENST00000344099	T	0.17213	2.29	1.86	0.672	0.17935	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40979	0.1139	M	0.86028	2.79	0.24605	N	0.993751	D	0.89917	1.0	D	0.76575	0.988	T	0.14062	-1.0486	9	0.87932	D	0	.	7.6356	0.28264	0.0:0.2677:0.7323:0.0	.	362	P17017	ZNF14_HUMAN	Q	362	ENSP00000340514:P362Q	ENSP00000340514:P362Q	P	-	2	0	ZNF14	19684005	0.060000	0.20803	0.200000	0.23457	0.719000	0.41307	0.746000	0.26275	0.084000	0.17077	0.467000	0.42956	CCA		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	0	0	0	8	421	0	99	0	1.425557e-03	0	3	0	99	2		0	0	0	0	0	2	1	0.988565	9	411	0	98	2		0	0	0	0	99	2	-3.001605	1	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.160000	0.070000	0.300000	0.160000	0.179738	0.160000	0	1.100000e-01	2.400000e-01
ZNF431	170959	broad.mit.edu	37	19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431			23					AGCTTTTAACCAGTCTTCAAC	0.403000																								0							SO:0001583	missense			ENST00000311048.7	0	1	hg19	CCDS32979.1	.	.	.	.	.	.	.	.	.	.	.	0.500	-0.871450	0.02570	.	.	ENSG00000196705	ENST00000311048	T	0.35421	1.31	1.0	1.0	0.19881	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20210	0.0486	N	0.16266	0.395	0.09310	N	1	B	0.22851	0.076	B	0.23574	0.047	T	0.22977	-1.0201	9	0.32370	T	0.25	.	6.2054	0.20600	0.0:0.6793:0.3206:0.0	.	327	Q8TF32	ZN431_HUMAN	K	327	ENSP00000308578:Q327K	ENSP00000308578:Q327K	Q	+	1	0	ZNF431	21157925	0.000000	0.05858	0.456000	0.27044	0.446000	0.32137	-3.026000	0.00640	0.446000	0.26666	0.449000	0.29647	CAG		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463943.1	0	0	0	9	360	0	88	0	7.431959e-03	0	5	0	88	2		0	0	0	0	0	2	1	0.993440	8	349	0	88	2		0	0	0	0	88	2	-3.168597	1	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.210000	0.100000	0.380000	0.210000	0.231709	0.210000	0	1.500000e-01	3.000000e-01
TSHZ3	57616	broad.mit.edu	37	19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3			123	Esophageal squamous(110;0.226)				AGCTTTCTTCCGAGTGGCAGG	0.527000																								0							SO:0001583	missense			ENST00000240587.4	0	1	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817102	0.50633	.	.	ENSG00000121297	ENST00000240587	T	0.12569	2.67	5.33	5.33	0.75918	.	0.120599	0.52532	D	0.000061	T	0.16171	0.0389	L	0.40543	1.245	0.58432	D	0.999998	P	0.42757	0.789	B	0.40101	0.319	T	0.01195	-1.1422	10	0.62326	D	0.03	-26.965	19.0278	0.92939	0.0:1.0:0.0:0.0	.	321	Q63HK5	TSH3_HUMAN	L	321	ENSP00000240587:R321L	ENSP00000240587:R321L	R	-	2	0	TSHZ3	36461577	1.000000	0.71417	0.967000	0.41034	0.394000	0.30568	7.487000	0.81328	2.479000	0.83701	0.563000	0.77884	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	0	0	7	439	0	144	0	6.171367e-02	0	22	0	144	2		0	0	0	0	0	2	1	0.975016	8	406	0	135	2		0	0	0	0	144	2	-2.256010	0	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.140000	0.060000	0.270000	0.140000	0.153750	0.140000	0	9.000000e-02	2.000000e-01
ZNF181	339318	broad.mit.edu	37	19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000492450.1	+	4	352	c.263C>A	c.(262-264)tCa>tAa	p.S88*	ZNF181_ENST00000392232.3_Nonsense_Mutation_p.S132*|ZNF181_ENST00000459757.2_Nonsense_Mutation_p.S87*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181			22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)		AAGGAATTATCAACAAAGAAG	0.264000																								0							SO:0001587	stop_gained			ENST00000492450.1	0	1	hg19	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176182	0.57692	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	.	.	.	3.42	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	3.7581	0.08593	0.2346:0.6242:0.0:0.1412	.	.	.	.	X	132;87;88;87	.	ENSP00000376065:S132X	S	+	2	0	ZNF181	39923389	0.000000	0.05858	0.079000	0.20413	0.847000	0.48162	0.129000	0.15830	0.718000	0.32166	0.491000	0.48974	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	0	0	0	12	603	0	106	0	4.531855e-03	0	5	0	106	2		0	0	0	0	0	2	1	0.999043	12	594	0	106	2		0	0	0	0	106	2	-2.517108	1	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.170000	0.090000	0.280000	0.170000	0.181791	0.170000	0	1.200000e-01	2.300000e-01
PSG3	5671	broad.mit.edu	37	19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3			36		Prostate(69;0.00682)			GATCACAGGTTAAGCTCACAG	0.522000																								0							SO:0001583	missense			ENST00000327495.5	1	1	hg19	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	-	9.036	0.988549	0.18966	.	.	ENSG00000221826	ENST00000327495	T	0.20332	2.08	1.59	0.52	0.17040	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33411	0.0862	M	0.64170	1.965	0.09310	N	1	D;B	0.64830	0.994;0.395	D;B	0.70227	0.968;0.316	T	0.14896	-1.0456	9	0.34782	T	0.22	.	2.9502	0.05859	0.0:0.277:0.0:0.723	.	145;167	Q08266;Q16557	.;PSG3_HUMAN	F	167	ENSP00000332215:L167F	ENSP00000332215:L167F	L	-	3	2	PSG3	47928984	0.000000	0.05858	0.014000	0.15608	0.015000	0.08874	-0.662000	0.05305	0.725000	0.32318	0.324000	0.21423	TTA		TCGA-HZ-A77Q-01A-11D-A36O-08	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	0	0	0	29	898	0	283		0	0	0	0	283	2		0	0	0	0	0	2	1	1.000000	29	880	0	294	2		0	0	0	0	283	2	-3.757069	1	1	0	0		1	1	2	3	2.047941	0	0.230000	1.890000	0.236149	0.270000	0.180000	1.000000	0.270000	0.322107	0.270000	0	2.200000e-01	3.500000e-01
RTN2	6253	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	RTN2_ENST00000430715.2_5'Flank|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Silent_p.P200P	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2			20		Ovarian(192;0.051)|all_neural(266;0.112)			TCAAGACCTCGGGCGATGAGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000245923.4	1	1	hg19	CCDS12665.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	1	0	1	31	194	0	61	1	8.002499e-01	4	17	0	61	2		0	0	0	0	0	2	1	1.000000	31	191	0	60	2		0	0	0	0	61	2	-2.810883	1	1	0	0		1	1	2	3	2.039352	0	0.230000	1.890000	0.234402	0.990000	0.850000	1.000000	1.000000	0.988699	0.990000	1	9.900000e-01	1
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557			17					GCATGTTTTTCGAAAAGAACA	0.348000																								0							SO:0001819	synonymous_variant			ENST00000439035.2	0	1	hg19	CCDS45945.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	0	0	0	7	368	0	68	0	1.481276e-03	0	3	0	68	2		0	0	0	0	0	2	1	0.979897	7	363	0	68	2		0	0	0	0	68	2	-3.038070	1	1	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.160000	0.070000	0.310000	0.160000	0.182443	0.160000	0	1.100000e-01	2.400000e-01
ZNF358	140467	broad.mit.edu	37	19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	MCOLN1_ENST00000264079.6_5'Flank|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358			8					GGTGCTccccgcccccgccag	0.741000																								0							SO:0001583	missense			ENST00000597229.1	0	1	hg19	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318275	0.60524	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07021	3.23	4.59	3.53	0.40419	.	.	.	.	.	T	0.06325	0.0163	N	0.17594	0.5	0.19300	N	0.999978	B	0.33940	0.433	B	0.31290	0.127	T	0.32798	-0.9893	9	0.49607	T	0.09	-17.385	12.6401	0.56705	0.0:0.1684:0.8316:0.0	.	143	Q9NW07	ZN358_HUMAN	S	143	ENSP00000377873:A143S	ENSP00000354703:A143S	A	+	1	0	ZNF358	7490555	0.567000	0.26626	0.366000	0.25914	0.772000	0.43724	2.186000	0.42593	1.041000	0.40125	0.462000	0.41574	GCC		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	0	0	0	4	132	0	35	0	6.287570e-01	0	65	0	35	2		0	0	0	0	0	2	0	0.866198	0	123	0	33	2		0	0	0	0	35	2	-6.542422	1	0	0	0		1	0	1	1	2.022501	0	0.230000	1.890000	0.228225	0.280000	0.090000	0.590000	0.250000	0.306565	0.280000	0	1.700000e-01	4.300000e-01
ANGPTL7	10218	broad.mit.edu	37	1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7			10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)			GAAGAACTACCGCATCTCTGG	0.512000																								0							SO:0001583	missense			ENST00000376819.3	0	1	hg19	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828114	0.50845	.	.	ENSG00000171819	ENST00000376819	T	0.76578	-1.03	6.17	5.26	0.73747	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.369397	0.31624	N	0.007340	T	0.62514	0.2434	L	0.39692	1.235	0.43080	D	0.994731	P	0.43662	0.814	B	0.36464	0.225	T	0.61797	-0.6989	10	0.08179	T	0.78	.	9.13	0.36839	0.2506:0.6827:0.0:0.0667	.	140	O43827	ANGL7_HUMAN	S	140	ENSP00000366015:R140S	ENSP00000366015:R140S	R	+	1	0	ANGPTL7	11174955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.507000	0.35758	1.626000	0.50381	0.655000	0.94253	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	0	0	0	10	911	0	243	0	4.886668e-02	0	29	0	243	2		0	0	0	0	0	2	1	0.996541	10	893	0	243	2		0	0	0	0	243	2	-1.986339	0	1	0	0		1	1	2	3	2.042898	0	0.230000	1.890000	0.235277	0.090000	0.040000	1.000000	0.100000	0.146057	0.090000	0	6.000000e-02	1.400000e-01
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	p.R276W(2)		25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)			CCCTTGACCCGCACAAGGACA	0.483000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000369569.1	0	1	hg19	CCDS865.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272545	0.59649	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;2.55;1.69;1.69	5.09	3.04	0.35103	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.174999	0.49305	D	0.000144	T	0.47192	0.1432	M	0.87328	2.875	0.41890	D	0.990362	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.995;0.974;0.99	T	0.62186	-0.6907	10	0.87932	D	0	.	15.2638	0.73646	0.0:0.0:0.6536:0.3464	.	183;108;276;177	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	W	108;276;276;183;201;108	ENSP00000358580:R108W;ENSP00000358582:R276W;ENSP00000256658:R276W;ENSP00000358579:R183W;ENSP00000358577:R201W;ENSP00000393622:R108W	ENSP00000256658:R276W	R	-	1	2	AP4B1	114244337	0.992000	0.36948	0.837000	0.33122	0.912000	0.54170	1.685000	0.37659	1.225000	0.43566	0.561000	0.74099	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	0	0	0	6	336	0	83	0	1.148470e-01	0	28	0	83	2		0	0	0	0	0	2	1	0.963037	6	330	0	82	2		0	0	0	0	83	2	-2.239216	0	1	121412	1	28	1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.160000	0.060000	1.000000	0.150000	0.215155	0.160000	0	1.000000e-01	2.600000e-01
GJA8	2703	broad.mit.edu	37	1	147381108	147381108	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000369235.1	+	1	1026	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000240986.4_Silent_p.A342A			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa			37	all_hematologic(923;0.0276)				AGGAGGGAGCCGAACCCGAGG	0.652000													Melanoma(76;1255 1795 8195 52096)											0							SO:0001819	synonymous_variant			ENST00000369235.1	0	1	hg19	CCDS30834.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	0	0	0	3	28	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.802167	3	27	0	8	2		0	0	0	0	8	2	-5.145069	1	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.880000	0.270000	1.000000	1.000000	0.799926	0.880000	1	5.200000e-01	1
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GCAGAGTGCCCGTGACCGGCT	0.582000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	0	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.452	1.090737	0.20471	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01145	5.27	2.33	2.33	0.28932	.	.	.	.	.	T	0.02193	0.0068	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44528	-0.9322	9	0.72032	D	0.01	-5.3773	8.176	0.31283	0.0:1.0:0.0:0.0	.	3265	P20930	FILA_HUMAN	W	3265;203	ENSP00000357789:G3265W	ENSP00000357786:G203W	G	-	1	0	FLG	150544193	0.000000	0.05858	0.003000	0.11579	0.036000	0.12997	-0.064000	0.11636	1.305000	0.44909	0.449000	0.29647	GGG		TCGA-HZ-A77Q-01A-11D-A36O-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	0	12	1434	1	571		0	0	0	1	571	2		0	0	0	0	0	2	1	0.645590	13	1410	1	564	11		0	0	0	1	571	2	-1.624409	0	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.070000	0.030000	0.130000	0.080000	0.087095	0.070000	0	5.000000e-02	1.000000e-01
UBAP2L	9898	broad.mit.edu	37	1	154207157	154207157	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:154207157C>A	ENST00000361546.2	+	4	412	c.370C>A	c.(370-372)Cga>Aga	p.R124R	UBAP2L_ENST00000271877.7_Silent_p.R124R|UBAP2L_ENST00000343815.6_Silent_p.R124R|UBAP2L_ENST00000428931.1_Silent_p.R124R			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like			50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		CAAAGAAAATCGAGACCGGGA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000361546.2	1	0	hg19	CCDS1063.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	1	0	0	9	173	0	38	0	8.609619e-01	0	71	0	38	2		0	0	0	0	0	2	1	0.994436	9	173	0	37	2		0	0	0	0	38	2	-11.966880	1	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.440000	0.220000	0.820000	0.420000	0.470252	0.440000	0	3.200000e-01	6.100000e-01
ASH1L	55870	broad.mit.edu	37	1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		ATGAGTGATCCGAATTTCACT	0.393000																								0							SO:0001583	missense			ENST00000368346.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	19.38	3.816696	0.70912	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91068	-2.78;-2.78	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000002	D	0.91199	0.7227	L	0.29908	0.895	0.80722	D	1	D;D	0.63046	0.987;0.992	D;D	0.72982	0.953;0.979	D	0.92702	0.6175	10	0.87932	D	0	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	1302;1302	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	L	1302	ENSP00000357330:R1302L;ENSP00000376204:R1302L	ENSP00000357330:R1302L	R	-	2	0	ASH1L	153715380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.651000	0.83577	2.555000	0.86185	0.591000	0.81541	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	0	0	10	564	1	135	0	4.799329e-02	0	18	1	135	2		0	0	0	0	0	2	0	0.195699	10	554	1	133	15		0	0	0	1	135	2	-2.190078	0	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.150000	0.070000	0.290000	0.150000	0.173659	0.150000	0	1.100000e-01	2.200000e-01
SEC16B	89866	broad.mit.edu	37	1	177913756	177913756	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	p.T608T(1)		35					CGAAGATTTCCGTCCTCTGGA	0.483000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000308284.6	0	1	hg19	CCDS44281.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	0	0	0	9	533	0	136	0	4.063797e-02	0	17	0	136	2		0	0	0	0	0	2	1	0.993886	9	525	0	134	2		0	0	0	0	136	2	-1.913219	0	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.140000	0.060000	0.290000	0.140000	0.167470	0.140000	0	1.000000e-01	2.100000e-01
FAM129A	116496	broad.mit.edu	37	1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A			45					TGCAGGCGCTCGTGAAGCAGG	0.517000																								0							SO:0001587	stop_gained			ENST00000367511.3	0	1	hg19	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	C	39	7.450749	0.98292	.	.	ENSG00000135842	ENST00000367511	.	.	.	5.23	5.23	0.72850	.	0.159368	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-30.4623	16.9967	0.86369	0.0:1.0:0.0:0.0	.	.	.	.	X	418	.	ENSP00000356481:E418X	E	-	1	0	FAM129A	183043914	1.000000	0.71417	0.933000	0.37362	0.867000	0.49689	5.525000	0.67110	2.438000	0.82558	0.655000	0.94253	GAG		TCGA-HZ-A77Q-01A-11D-A36O-08	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	0	0	0	9	389	0	127	0	9.976419e-02	0	21	0	127	2		0	0	0	0	0	2	1	0.993790	8	382	0	125	2		0	0	0	0	127	2	-2.441661	0	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.200000	0.090000	0.390000	0.200000	0.223760	0.200000	0	1.400000e-01	2.900000e-01
ASPM	259266	broad.mit.edu	37	1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K|ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					GCTTTATTTTGAACTTTTTCC	0.289000																								0							SO:0001583	missense			ENST00000367409.4	0	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569453	0.13560	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.70282	0.3;-0.47;-0.47	5.72	4.79	0.61399	.	0.624908	0.15769	N	0.245535	T	0.67382	0.2887	M	0.76574	2.34	0.09310	N	1	B;B	0.27765	0.001;0.188	B;B	0.22880	0.003;0.042	T	0.55425	-0.8143	10	0.15952	T	0.53	.	12.3172	0.54964	0.0:0.0:0.6346:0.3654	.	1347;1347	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	1347;1347;597	ENSP00000356379:Q1347K;ENSP00000294732:Q1347K;ENSP00000356378:Q597K	ENSP00000294732:Q1347K	Q	-	1	0	ASPM	195353568	0.978000	0.34361	0.019000	0.16419	0.325000	0.28411	2.287000	0.43505	1.384000	0.46424	0.557000	0.71058	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	12	799	0	167	0	0	0	1	0	167	2		0	0	0	0	0	2	1	0.999039	11	790	0	165	2		0	0	0	0	167	2	-2.475444	0	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.130000	0.060000	0.230000	0.130000	0.147229	0.130000	0	9.000000e-02	1.800000e-01
CACNA1S	779	broad.mit.edu	37	1	201019522	201019522	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit			102				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000362061.3	1	1	hg19	CCDS1407.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	1	0	0	25	224	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	1.000000	24	223	0	59	2		0	0	0	0	59	2	-20.000000	1	1	0	0		1	1	2	3	2.026692	0	0.230000	1.890000	0.231767	0.870000	0.580000	1.000000	1.000000	0.865318	0.870000	1	7.200000e-01	1
SH2D5	400745	broad.mit.edu	37	1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000444387.2	-	7	1134	c.737G>A	c.(736-738)cGc>cAc	p.R246H	SH2D5_ENST00000375031.1_Missense_Mutation_p.R162H|SH2D5_ENST00000460804.1_5'UTR	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	p.R162H(1)		6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			GGCCCCCGAGCGGATCACCTT	0.667000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000444387.2	1	1	hg19	CCDS44080.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627683	0.87560	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.93	4.01	0.46588	SH2 motif (3);	0.138797	0.49305	N	0.000156	T	0.56877	0.2015	L	0.56769	1.78	0.42777	D	0.993855	B	0.25667	0.131	B	0.18871	0.023	T	0.59984	-0.7351	9	0.66056	D	0.02	.	12.202	0.54331	0.0:0.9156:0.0:0.0844	.	246	Q6ZV89	SH2D5_HUMAN	H	162;246	.	ENSP00000364171:R162H	R	-	2	0	SH2D5	20923225	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.417000	0.59822	1.303000	0.44873	0.563000	0.77884	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007455.2	1	0	1	36	217	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	36	210	0	101	2		0	0	0	0	101	2	-3.080225	1	1	121040	1	32	1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.990000	0.900000	1.000000	1.000000	0.994105	0.990000	1	9.900000e-01	1
RCOR3	55758	broad.mit.edu	37	1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L|RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3			21					TTGAAGAATTCAAACCTCCTG	0.353000																								0							SO:0001583	missense			ENST00000367005.4	0	1	hg19	CCDS31016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.201|9.201	1.028368|1.028368	0.19512|0.19512	.|.	.|.	ENSG00000117625|ENSG00000117625	ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005;ENST00000529763|ENST00000534460	T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Homeodomain-like (1);|.	0.197157|.	0.56097|.	D|.	0.000037|.	T|T	0.46308|0.46308	0.1386|0.1386	N|N	0.10837|0.10837	0.055|0.055	0.48762|0.48762	D|D	0.999706|0.999706	B;B;B;B|.	0.10296|.	0.001;0.0;0.003;0.001|.	B;B;B;B|.	0.11329|.	0.001;0.001;0.006;0.003|.	T|T	0.41106|0.41106	-0.9527|-0.9527	10|5	0.05833|.	T|.	0.94|.	-8.0213|-8.0213	17.0544|17.0544	0.86529|0.86529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335;277;335;335|.	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4|.	.;RCOR3_HUMAN;.;.|.	L|K	335;335;335;277;95|122	ENSP00000355973:F335L;ENSP00000398558:F335L;ENSP00000413929:F335L;ENSP00000355972:F277L;ENSP00000437048:F95L|.	ENSP00000355972:F277L|.	F|Q	+|+	3|1	2|0	RCOR3|RCOR3	209535706|209535706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.693000|3.693000	0.54735|0.54735	2.519000|2.519000	0.84933|0.84933	0.655000|0.655000	0.94253|0.94253	TTC|CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1	0	0	0	7	263	0	43	0	1.699966e-01	0	25	0	43	2		0	0	0	0	0	2	1	0.980209	7	260	0	42	2		0	0	0	0	43	2	-3.564882	1	1	0	0		1	1	2	3	2.031963	0	0.230000	1.890000	0.233526	0.240000	0.100000	1.000000	0.220000	0.275297	0.240000	0	1.600000e-01	3.500000e-01
EIF4G3	8672	broad.mit.edu	37	1	21180069	21180069	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000264211.8	-	21	3561	c.3367C>A	c.(3367-3369)Cga>Aga	p.R1123R	EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R|EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000602326.1_Silent_p.R1129R	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3			70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)			AAGGTCCTTCGGGAATCAAAC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000264211.8	0	1	hg19	CCDS214.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	0	0	7	173	0	41	0	8.595789e-01	0	90	0	41	2		0	0	0	0	0	2	1	0.980077	5	172	0	40	2		0	0	0	0	41	2	-3.177570	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.360000	0.160000	1.000000	0.330000	0.407156	0.360000	0	2.400000e-01	5.400000e-01
FLVCR1	28982	broad.mit.edu	37	1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1			12					TTTGGGTTTTGAATTTGCTGT	0.383000													Esophageal Squamous(199;2235 2952 19233 26256)											0							SO:0001587	stop_gained			ENST00000366971.4	0	1	hg19	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.416920|6.416920	0.97550|0.97550	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000366971|ENST00000419102	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79805	.|0.4509	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77582	.|-0.2534	.|3	0.87932|.	D|.	0|.	-27.963|-27.963	19.5996|19.5996	0.95554|0.95554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	448|246	.|.	ENSP00000355938:E448X|.	E|L	+|+	1|3	0|2	FLVCR1|FLVCR1	211128488|211128488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.238000|9.238000	0.95380|0.95380	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAA|TTG		TCGA-HZ-A77Q-01A-11D-A36O-08	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	0	0	0	9	463	0	102	0	1.231926e-02	0	8	0	102	2		0	0	0	0	0	2	1	0.993848	9	455	0	101	2		0	0	0	0	102	2	-2.851332	1	1	0	0		1	1	2	3	2.031963	0	0.230000	1.890000	0.233526	0.170000	0.080000	1.000000	0.160000	0.206534	0.170000	0	1.200000e-01	2.500000e-01
LYST	1130	broad.mit.edu	37	1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		TTCTAGCGCTCGTCTCTGAAC	0.453000																								0							SO:0001583	missense			ENST00000389794.3	0	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384645	0.61845	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.80123	-1.34;-1.34	5.52	5.52	0.82312	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	N	0.21583	0.68	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.85655	0.1285	10	0.72032	D	0.01	.	19.4447	0.94841	0.0:1.0:0.0:0.0	.	3398	Q99698	LYST_HUMAN	L	3398	ENSP00000374444:R3398L;ENSP00000374443:R3398L	ENSP00000374443:R3398L	R	-	2	0	LYST	233932851	1.000000	0.71417	0.557000	0.28306	0.141000	0.21300	7.487000	0.81328	2.608000	0.88229	0.491000	0.48974	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	0	0	0	11	688	0	192	0	2.805679e-02	0	15	0	192	2		0	0	0	0	0	2	1	0.998192	12	676	0	190	2		0	0	0	0	192	2	-2.039163	0	1	0	0		1	1	2	3	2.031963	0	0.230000	1.890000	0.233526	0.140000	0.070000	1.000000	0.140000	0.173340	0.140000	0	1.000000e-01	2.000000e-01
KIF2C	11004	broad.mit.edu	37	1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372224.4	+	7	679	c.566G>T	c.(565-567)cGg>cTg	p.R189L	KIF2C_ENST00000372217.1_Missense_Mutation_p.R135L|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C			34	Acute lymphoblastic leukemia(166;0.155)				TTCATAGTTCGGAGGAAATCA	0.398000																								0							SO:0001583	missense			ENST00000372224.4	0	1	hg19	CCDS512.1	.	.	.	.	.	.	.	.	.	.	g	32	5.129278	0.94473	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.75589	1.03;-0.94;-0.77;0.76;-0.92;-0.95	6.08	6.08	0.98989	.	0.055839	0.64402	D	0.000002	T	0.76630	0.4014	L	0.38175	1.15	0.53005	D	0.999969	B;P;P	0.47762	0.244;0.9;0.839	B;P;P	0.51135	0.098;0.66;0.542	T	0.76908	-0.2785	10	0.59425	D	0.04	.	19.2272	0.93822	0.0:0.0:1.0:0.0	.	148;135;189	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	L	148;189;148;180;76;135	ENSP00000410346:R148L;ENSP00000361298:R189L;ENSP00000361292:R148L;ENSP00000395050:R180L;ENSP00000361296:R76L;ENSP00000361291:R135L	ENSP00000361291:R135L	R	+	2	0	KIF2C	44991995	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.906000	0.87423	2.894000	0.99253	0.655000	0.94253	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	0	0	0	7	228	0	57	0	1.711783e-02	0	6	0	57	2		0	0	0	0	0	2	1	0.978562	7	220	0	57	2		0	0	0	0	57	2	-3.158376	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.280000	0.120000	1.000000	0.260000	0.324755	0.280000	0	1.800000e-01	4.100000e-01
ATPAF1	64756	broad.mit.edu	37	1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000371937.4	-	9	955	c.851G>T	c.(850-852)cGg>cTg	p.R284L	ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L|ATPAF1_ENST00000576409.1_Missense_Mutation_p.R307L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1			8	Acute lymphoblastic leukemia(166;0.155)				GGTCTCTTTCCGATCAGTAGC	0.458000													Melanoma(138;107 1777 21672 30337 52312)											0							SO:0001583	missense			ENST00000371937.4	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.21|16.21	3.059769|3.059769	0.55325|0.55325	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000526821;ENST00000542495;ENST00000329231;ENST00000532925	.|T	.|0.46063	.|0.88	6.02|6.02	4.17|4.17	0.49024|0.49024	.|.	.|0.145674	.|0.64402	.|D	.|0.000009	.|T	.|0.54415	.|0.1857	M|M	0.68952|0.68952	2.095|2.095	0.48341|0.48341	D|D	0.999639|0.999639	.|P;D;P	.|0.71674	.|0.867;0.998;0.943	.|P;D;P	.|0.71870	.|0.483;0.975;0.718	.|T	.|0.58451	.|-0.7634	.|10	.|0.02654	.|T	.|1	-10.3176|-10.3176	12.6294|12.6294	0.56649|0.56649	0.0:0.8673:0.0:0.1327|0.0:0.8673:0.0:0.1327	.|.	.|196;216;284	.|B7Z7I6;A8MRA7;Q5TC12	.|.;.;ATPF1_HUMAN	X|L	139|284;88;130;133;216;196	.|ENSP00000361005:R284L	.|ENSP00000330685:R216L	G|R	-|-	1|2	0|0	ATPAF1|ATPAF1	46874171|46874171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.569000|5.569000	0.67391|0.67391	0.885000|0.885000	0.36088|0.36088	-0.145000|-0.145000	0.13849|0.13849	GGA|CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	10	931	0	244	0	2.851210e-01	0	91	0	244	2		0	0	0	0	0	2	1	0.996730	13	921	0	243	2		0	0	0	0	244	2	-1.727810	0	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.090000	0.040000	1.000000	0.100000	0.143962	0.090000	0	6.000000e-02	1.400000e-01
SPATA6	54558	broad.mit.edu	37	1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	p.E207*(1)		21					GTAGGCTGTTCGTAGTTTTTT	0.408000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000371847.3	0	1	hg19	CCDS551.1	.	.	.	.	.	.	.	.	.	.	C	37	6.599110	0.97692	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.57	5.57	0.84162	.	0.120087	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.5334	0.91000	0.0:1.0:0.0:0.0	.	.	.	.	X	207;207;135;48	.	ENSP00000360907:E48X	E	-	1	0	SPATA6	48637771	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.736000	0.38187	2.611000	0.88343	0.555000	0.69702	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	0	0	0	19	773	0	202	0	2.090854e-02	0	9	0	202	2		0	0	0	0	0	2	1	0.999990	19	766	0	201	2		0	0	0	0	202	2	-2.129320	0	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.210000	0.120000	1.000000	0.210000	0.256293	0.210000	0	1.600000e-01	2.800000e-01
DIO1	1733	broad.mit.edu	37	1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000532493.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000388876.3_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I			9					CATTTATGTTCAAATTTGACC	0.393000																								0							SO:0001583	missense			ENST00000361921.3	0	1	hg19	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595138	0.28445	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000525202;ENST00000524406	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.57;1.57	5.37	3.49	0.39957	Thioredoxin-like fold (1);	0.395803	0.20764	N	0.086110	T	0.24470	0.0593	L	0.27053	0.805	0.80722	D	1	B;B;B	0.15930	0.002;0.002;0.015	B;B;B	0.15484	0.002;0.003;0.013	T	0.04946	-1.0916	10	0.11182	T	0.66	.	6.6538	0.22977	0.1409:0.6659:0.1215:0.0717	.	131;131;67	P49895-5;P49895;P49895-2	.;IOD1_HUMAN;.	L	88;131;131;67;2	ENSP00000432797:F88L;ENSP00000354643:F131L;ENSP00000323198:F131L;ENSP00000435725:F67L;ENSP00000434152:F2L	ENSP00000323198:F131L	F	+	3	2	DIO1	54142982	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	0.814000	0.27239	0.637000	0.30526	0.655000	0.94253	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3	0	0	0	12	697	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	0.999065	12	690	0	177	2		0	0	0	0	179	2	-2.306316	0	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.150000	0.070000	1.000000	0.150000	0.198836	0.150000	0	1.100000e-01	2.100000e-01
HSPB11	51668	broad.mit.edu	37	1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K|HSPB11_ENST00000489675.1_5'Flank	NM_016126.2	NP_057210.2	Q9Y547	IFT25_HUMAN	heat shock protein family B (small), member 11			9					AAGTAACTTTGGATTACAAGC	0.318000																								0							SO:0001583	missense			ENST00000194214.5	0	1	hg19	CCDS41341.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798150	0.31777	.	.	ENSG00000081870	ENST00000194214;ENST00000371378;ENST00000371377;ENST00000371376	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.237149	0.43260	D	0.000593	D	0.96614	0.8895	L	0.55103	1.725	0.40074	D	0.976054	B;B	0.28801	0.223;0.052	B;B	0.32724	0.151;0.038	D	0.95288	0.8392	10	0.13853	T	0.58	-16.6923	15.9014	0.79380	0.0:0.0:1.0:0.0	.	65;65	A6NIR2;Q9Y547	.;HSB11_HUMAN	K	65	ENSP00000194214:Q65K;ENSP00000360429:Q65K;ENSP00000360428:Q65K;ENSP00000360427:Q65K	ENSP00000194214:Q65K	Q	-	1	0	HSPB11	54168312	1.000000	0.71417	0.831000	0.32960	0.703000	0.40648	5.895000	0.69814	2.833000	0.97629	0.591000	0.81541	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	HSPB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023114.1	0	0	0	9	375	0	85	0	7.256357e-01	0	106	0	85	2		0	0	0	0	0	2	1	0.993306	9	360	0	85	2		0	0	0	0	85	2	-2.848921	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.210000	0.100000	1.000000	0.210000	0.261318	0.210000	0	1.500000e-01	3.100000e-01
LEPR	3953	broad.mit.edu	37	1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor			36					TATCCCCATTGAGAAGTACCA	0.279000																								0							SO:0001587	stop_gained			ENST00000349533.6	0	1	hg19	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	44	10.974545	0.99497	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6903	19.9253	0.97100	0.0:0.0:1.0:0.0	.	.	.	.	X	805	.	ENSP00000340884:E805X	E	+	1	0	LEPR	65858216	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.292000	0.65673	2.692000	0.91855	0.650000	0.86243	GAG		TCGA-HZ-A77Q-01A-11D-A36O-08	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	0	0	9	513	0	93	0	3.037624e-02	0	14	0	93	2		0	0	0	0	0	2	1	0.993540	9	499	0	92	2		0	0	0	0	93	2	-3.313586	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.150000	0.070000	1.000000	0.150000	0.205219	0.150000	0	1.100000e-01	2.300000e-01
DEPDC1	55635	broad.mit.edu	37	1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1			13					TAACACACATCGAGAAAAGGT	0.333000																								0							SO:0001583	missense			ENST00000456315.2	0	1	hg19	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981842	0.93044	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	T;T	0.40476	1.03;1.03	5.67	5.67	0.87782	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.060315	0.64402	D	0.000001	T	0.61211	0.2329	M	0.76328	2.33	0.41882	D	0.990322	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.979	T	0.63651	-0.6589	10	0.66056	D	0.02	0.652	19.76	0.96311	0.0:1.0:0.0:0.0	.	652;368	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	L	652;368	ENSP00000412292:R652L;ENSP00000360005:R368L	ENSP00000360005:R368L	R	-	2	0	DEPDC1	68717572	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.996000	0.76263	2.670000	0.90874	0.585000	0.79938	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	0	0	0	6	223	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	0.961555	6	215	0	49	2		0	0	0	0	49	2	-3.131989	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.250000	0.100000	1.000000	0.220000	0.296254	0.250000	0	1.600000e-01	3.800000e-01
LPHN2	23266	broad.mit.edu	37	1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*			O95490	LPHN2_HUMAN	latrophilin 2			119					AGTGAATATTCAAGGAAAAAA	0.388000																								0							SO:0001587	stop_gained			ENST00000370728.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.738490|12.738490	0.99692|0.99692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32971|.	0.0847|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33163|.	-0.9879|.	3|.	.|0.02654	.|T	.|1	.|.	20.1133|20.1133	0.97917|0.97917	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	816|873;948;948;948;948;935;935;935;935;935;948;935;948;948	.|.	.|ENSP00000271029:S948X	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82208707|82208707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	CAA|TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	0	0	0	11	471	0	110	0	6.099434e-02	0	16	0	110	2		0	0	0	0	0	2	1	0.998311	11	468	0	108	2		0	0	0	0	110	2	-2.947842	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.200000	0.100000	1.000000	0.200000	0.252461	0.200000	0	1.500000e-01	2.900000e-01
HFM1	164045	broad.mit.edu	37	1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)			75		all_lung(203;0.00961)|Lung NSC(277;0.0351)			TTTAAATGTTCAATAAGATGT	0.308000																								0							SO:0001587	stop_gained			ENST00000370425.3	0	1	hg19	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	40	8.503240	0.98838	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	.	.	.	5.32	4.4	0.53042	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7422	0.77910	0.1376:0.8624:0.0:0.0	.	.	.	.	X	698;377;382	.	ENSP00000359450:E382X	E	-	1	0	HFM1	91588997	1.000000	0.71417	0.986000	0.45419	0.768000	0.43524	7.720000	0.84759	1.355000	0.45865	0.460000	0.39030	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	0	0	0	10	440	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.996809	10	437	0	87	2		0	0	0	0	87	2	-2.677405	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.200000	0.100000	1.000000	0.190000	0.248575	0.200000	0	1.400000e-01	2.900000e-01
ABCD3	5825	broad.mit.edu	37	1	94956786	94956786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000536817.1_Silent_p.R384R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3			26		all_lung(203;0.000434)|Lung NSC(277;0.0019)			TGTTTTGATCCGAGACCTTAA	0.264000																								0							SO:0001819	synonymous_variant			ENST00000370214.4	0	1	hg19	CCDS749.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	0	0	0	7	427	0	83	0	2.738249e-01	0	55	0	83	2		0	0	0	0	0	2	1	0.978583	7	414	0	82	2		0	0	0	0	83	2	-2.680164	1	1	0	0		1	1	2	3	2.042901	0	0.230000	1.890000	0.235277	0.150000	0.060000	1.000000	0.140000	0.198929	0.150000	0	1.000000e-01	2.300000e-01
PTPRA	5786	broad.mit.edu	37	20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A			17					TGATCAGCATCATCGCCGCCG	0.587000																								0							SO:0001583	missense			ENST00000216877.6	1	1	hg19	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091247	0.55968	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.57	4.63	0.57726	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.060068	0.64402	U	0.000008	T	0.13030	0.0316	N	0.13140	0.3	0.54753	D	0.999987	B;P;B	0.49559	0.024;0.925;0.13	B;P;B	0.53549	0.03;0.729;0.158	T	0.12319	-1.0552	10	0.42905	T	0.14	.	14.6291	0.68643	0.0:0.9297:0.0:0.0703	.	723;712;703	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	M	712;703;712;568;322;723;703;703	ENSP00000369756:I712M;ENSP00000216877:I703M;ENSP00000382787:I712M;ENSP00000351559:I568M;ENSP00000393553:I723M;ENSP00000314568:I703M;ENSP00000348468:I703M	ENSP00000216877:I703M	I	+	3	3	PTPRA	2964525	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.486000	0.45259	1.339000	0.45563	0.563000	0.77884	ATC		TCGA-HZ-A77Q-01A-11D-A36O-08	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3	1	0	1	60	274	0	129	1	1	57	166	0	129	2		0	0	0	0	0	2	1	1.000000	60	271	0	129	2		0	0	0	0	129	2	-20.000000	1	1	0	0		1	2	2	4	2.124551	1	0.230000	1.890000	0.267085	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	9.900000e-01	1
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1			20		Myeloproliferative disorder(115;0.00878)			AATAGATTACGGTATTCAATT	0.348000																								0							SO:0001583	missense			ENST00000262878.4	0	1	hg19	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144911	0.77888	.	.	ENSG00000101347	ENST00000262878	D	0.96830	-4.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.99533	1.0961	10	0.87932	D	0	-9.9304	18.2234	0.89909	0.0:0.0:1.0:0.0	.	451	Q9Y3Z3	SAMH1_HUMAN	S	451	ENSP00000262878:R451S	ENSP00000262878:R451S	R	-	1	0	SAMHD1	34967240	1.000000	0.71417	0.300000	0.25030	0.629000	0.37895	7.652000	0.83633	2.644000	0.89710	0.462000	0.41574	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	0	0	0	13	752	0	158	0	6.323137e-01	0	122	0	158	2		0	0	0	0	0	2	1	0.999472	12	739	0	157	2		0	0	0	0	158	2	-2.021688	0	1	0	0		1	2	2	4	2.124551	1	0.230000	1.890000	0.267085	0.160000	0.080000	1.000000	0.150000	0.302335	0.160000	0	1.200000e-01	1
ZNFX1	57169	broad.mit.edu	37	20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1			60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		TTCTGCCAGCGAACAAACTTC	0.448000																								0							SO:0001583	missense			ENST00000396105.1	0	1	hg19	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160937	0.57368	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.87256	-1.97;-2.23;-2.23;-0.93;-1.64	5.85	5.85	0.93711	.	0.215288	0.48286	D	0.000200	D	0.91855	0.7422	M	0.66939	2.045	0.58432	D	0.99999	D	0.76494	0.999	D	0.65140	0.932	D	0.88693	0.3210	10	0.20519	T	0.43	-23.2852	18.7272	0.91718	0.0:0.0:1.0:0.0	.	441	Q9P2E3	ZNFX1_HUMAN	S	441;441;441;441;441;245	ENSP00000360819:R441S;ENSP00000360817:R441S;ENSP00000379412:R441S;ENSP00000360809:R441S;ENSP00000413800:R245S	ENSP00000360809:R441S	R	-	1	0	ZNFX1	47320435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.651000	0.74372	2.773000	0.95371	0.655000	0.94253	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	0	0	0	10	707	0	215	0	1.431234e-01	0	43	0	215	2		0	0	0	0	0	2	1	0.996604	11	693	0	212	2		0	0	0	0	215	2	-2.278961	0	1	0	0		1	2	2	4	2.124551	1	0.230000	1.890000	0.267085	0.140000	0.060000	1.000000	0.120000	0.279811	0.140000	0	9.000000e-02	1
ZNF217	7764	broad.mit.edu	37	20	52193233	52193233	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.S690S			O75362	ZN217_HUMAN	zinc finger protein 217			50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		GAGCCCCCACGGATAAATTTA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000371471.2	0	1	hg19	CCDS13443.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	0	0	0	11	601	0	165	0	1.647522e-02	0	8	0	165	2		0	0	0	0	0	2	1	0.998178	12	589	0	162	2		0	0	0	0	165	2	-2.061245	0	1	0	0		1	2	2	4	2.124551	1	0.230000	1.890000	0.267085	0.180000	0.080000	1.000000	0.170000	0.312035	0.180000	0	1.200000e-01	1
HUNK	30811	broad.mit.edu	37	21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase			30					CAGAGACTTGAAGATAGAGAA	0.299000																								0							SO:0001583	missense			ENST00000270112.2	1	1	hg19	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.698055	0.88830	.	.	ENSG00000142149	ENST00000270112;ENST00000430354	D;D	0.91068	-2.78;-2.78	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.99863	4.86	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.0584	15.5563	0.76196	1.0:0.0:0.0:0.0	.	188	P57058	HUNK_HUMAN	E	188;73	ENSP00000270112:K188E;ENSP00000411860:K73E	ENSP00000270112:K188E	K	+	1	0	HUNK	32234355	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.186000	0.89706	2.317000	0.78254	0.460000	0.39030	AAG		TCGA-HZ-A77Q-01A-11D-A36O-08	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	1	0	0	12	233	0	51	0	8.555444e-03	0	3	0	51	2		0	0	0	0	0	2	1	0.999141	12	231	0	49	2		0	0	0	0	51	2	-14.509870	1	1	0	0		1	0	0	0	1.913835	0	0.230000	1.890000	0.183024	0.400000	0.220000	0.650000	0.400000	0.423522	0.400000	0	3.000000e-01	5.300000e-01
TTC3	7267	broad.mit.edu	37	21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3			75		Myeloproliferative disorder(46;0.0412)			CAGAAAAGTTCAGGTATGTTT	0.299000													Ovarian(38;194 1649 35661)											0							SO:0001583	missense			ENST00000399017.2	0	1	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	C	5.465	0.270881	0.10349	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.38722	1.52;1.52;1.52;3.27;1.12;3.27;3.27	5.33	0.0492	0.14288	.	1.304020	0.05165	N	0.498569	T	0.18882	0.0453	N	0.08118	0	0.09310	N	0.999995	B;B	0.14012	0.0;0.009	B;B	0.09377	0.0;0.004	T	0.18398	-1.0338	10	0.11485	T	0.65	10.7736	2.9223	0.05773	0.2841:0.3761:0.2536:0.0862	.	142;452	B4DSZ9;P53804	.;TTC3_HUMAN	L	452;452;434;452;142;452;452	ENSP00000403943:F452L;ENSP00000408456:F452L;ENSP00000391891:F434L;ENSP00000347889:F452L;ENSP00000442875:F142L;ENSP00000381981:F452L;ENSP00000346791:F452L	ENSP00000346791:F452L	F	+	3	2	TTC3	37423231	0.076000	0.21285	0.369000	0.25952	0.767000	0.43475	-0.036000	0.12185	0.323000	0.23307	0.655000	0.94253	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	0	0	0	8	382	0	90	0	1.866262e-01	0	34	0	90	2		0	0	0	0	0	2	1	0.988492	8	373	0	89	2		0	0	0	0	90	2	-3.302512	1	1	0	0		1	0	0	0	1.913835	0	0.230000	1.890000	0.183024	0.170000	0.070000	0.310000	0.170000	0.186016	0.170000	0	1.200000e-01	2.400000e-01
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000333229.2	-	37	4649	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000342449.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1			58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)			ACAATTTTGCCGTTGCTTGAA	0.328000													Melanoma(170;988 1986 4794 16843 39731)											0							SO:0001583	missense			ENST00000333229.2	0	1	hg19	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126374	0.20959	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	T;T;T	0.59224	0.28;0.31;0.38	4.87	2.09	0.27110	.	0.173450	0.35970	N	0.002879	T	0.49150	0.1540	L	0.58101	1.795	0.09310	N	1	P;P;B	0.41546	0.632;0.754;0.358	B;B;B	0.38428	0.273;0.256;0.067	T	0.44952	-0.9294	10	0.72032	D	0.01	-0.1605	7.9196	0.29837	0.0:0.6:0.0:0.4	.	1441;1441;1441	Q9NSI6-3;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	L	1441;1441;1441;397	ENSP00000330753:R1441L;ENSP00000344333:R1441L;ENSP00000370178:R1441L	ENSP00000330753:R1441L	R	-	2	0	BRWD1	39499946	0.025000	0.19082	0.345000	0.25642	0.581000	0.36288	0.356000	0.20181	0.141000	0.18875	-0.258000	0.10820	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	0	0	10	871	0	245	0	5.672620e-03	0	9	0	245	2		0	0	0	0	0	2	1	0.996507	9	853	0	240	2		0	0	0	0	245	2	-1.856495	0	1	0	0		1	0	0	0	1.913835	0	0.230000	1.890000	0.183024	0.090000	0.040000	0.160000	0.090000	0.101578	0.090000	0	6.000000e-02	1.300000e-01
PCP4	5121	broad.mit.edu	37	21	41300976	41300976	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	p.A43A(1)		4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)			AACGTGCAGCGGTGGCCATTC	0.463000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000328619.5	1	1	hg19	CCDS33563.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	PCP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195025.1	1	0	0	25	323	0	109	0	1.151540e-01	1	7	0	109	2		0	0	0	0	0	2	1	1.000000	25	321	0	109	2		0	0	0	0	109	2	-2.598640	1	1	121412	1	33	1	0	0	0	1.913835	0	0.230000	1.890000	0.183024	0.580000	0.390000	0.820000	0.580000	0.600985	0.580000	0	4.800000e-01	7.100000e-01
POFUT2	23275	broad.mit.edu	37	21	46687600	46687600	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000349485.5	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_Silent_p.P347P	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2			20					TCACCATCTCGGGTAACAGCT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000349485.5	0	1	hg19	CCDS13719.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192573.2	0	0	0	12	784	0	260	0	1.298533e-01	0	38	0	260	2		0	0	0	0	0	2	1	0.998969	11	766	0	254	2		0	0	0	0	260	2	-1.732341	0	1	0	0		1	0	0	0	1.913835	0	0.230000	1.890000	0.183024	0.120000	0.060000	0.210000	0.120000	0.132763	0.120000	0	9.000000e-02	1.700000e-01
KLHL22	84861	broad.mit.edu	37	22	20819390	20819390	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22			20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		GCTCCGTTTGCGGGCTCTGCA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000328879.4	0	1	hg19	CCDS13780.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	0	0	0	4	160	0	66	0	1.998660e-01	0	27	0	66	2		0	0	0	0	0	2	1	0.888455	4	158	0	65	2		0	0	0	0	66	2	-3.569249	1	1	0	0		1	0	2	2	1.913390	1	0.230000	1.890000	0.230000	0.250000	0.080000	1.000000	0.210000	0.339555	0.250000	0	1.400000e-01	4.600000e-01
MORC2	22880	broad.mit.edu	37	22	31328956	31328956	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000397641.3	-	22	2850	c.2442C>T	c.(2440-2442)gcC>gcT	p.A814A	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Silent_p.A752A			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2			21					CCACCTCCACGGCTGTGACAC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000397641.3	1	1	hg19																																																																																					TCGA-HZ-A77Q-01A-11D-A36O-08	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	1	0	1	155	662	0	226	1	9.999958e-01	20	56	0	226	2		0	0	0	0	0	2	1	1.000000	152	647	0	223	2		0	0	0	0	226	2	-3.195416	1	0	121412	1	34	1	0	2	2	1.913390	1	0.230000	1.890000	0.230000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CCATTAAATCGGTTTATCCTT	0.328000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001819	synonymous_variant			ENST00000389484.3	0	1	hg19	CCDS2182.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	11	494	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	0.998173	9	486	0	115	2		0	0	0	0	115	2	-2.879461	1	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.230000	0.100000	1.000000	0.200000	0.402551	0.230000	0	1.500000e-01	1
ARHGAP15	55843	broad.mit.edu	37	2	144314047	144314047	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.1_ENST00000553076.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15			34					GATTTATTGTCAACCAAGGTA	0.318000																								0							SO:0001819	synonymous_variant			ENST00000295095.6	0	1	hg19	CCDS2184.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	0	0	15	808	0	156	0	2.529782e-01	0	50	0	156	2		0	0	0	0	0	2	1	0.999845	15	789	0	152	2		0	0	0	0	156	2	-2.468838	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.180000	0.090000	1.000000	0.170000	0.373270	0.180000	0	1.300000e-01	1
TPO	7173	broad.mit.edu	37	2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000382198.1_Missense_Mutation_p.R429H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000346956.3_Missense_Mutation_p.R602H	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)	GGCCTGCCTCGCCTGGAGACC	0.577000																								0							SO:0001583	missense			ENST00000345913.4	0	1	hg19	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.53|13.53	2.266050|2.266050	0.40095|0.40095	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.84|4.84	3.96|3.96	0.45880|0.45880	.|.	.|0.089088	.|0.64402	.|D	.|0.000001	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.84773|0.84773	2.715|2.715	0.36481|0.36481	D|D	0.867864|0.867864	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.78314	.|0.984;0.967;0.976;0.991	D|D	0.84961|0.84961	0.0877|0.0877	5|10	.|0.66056	.|D	.|0.02	-13.2581|-13.2581	6.5333|6.5333	0.22339|0.22339	0.0741:0.1302:0.6611:0.1345|0.0741:0.1302:0.6611:0.1345	.|.	.|602;429;545;602	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	T|H	77|602;602;602;429;602;545;429;531;76	.|ENSP00000337263:R602H;ENSP00000318820:R602H;ENSP00000263886:R602H;ENSP00000332044:R429H;ENSP00000329869:R602H;ENSP00000371636:R545H;ENSP00000371633:R429H;ENSP00000405788:R531H;ENSP00000419461:R76H	.|ENSP00000329869:R602H	A|R	+|+	1|2	0|0	TPO|TPO	1476617|1476617	0.002000|0.002000	0.14202|0.14202	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	0.772000|0.772000	0.26647|0.26647	1.151000|1.151000	0.42436|0.42436	0.561000|0.561000	0.74099|0.74099	GCC|CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	0	0	24	115	1	34	0	0	0	1	1	34	2		0	0	0	0	0	2	1	0.968407	23	114	1	34	14		0	0	0	1	34	2	-20.000000	1	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.990000	0.990000	1.000000	1.000000	0.999332	0.990000	1	9.900000e-01	1
NEB	4703	broad.mit.edu	37	2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000172853.10	-	65	9302	c.9155G>T	c.(9154-9156)cGg>cTg	p.R3052L	NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L|NEB_ENST00000427231.2_Missense_Mutation_p.R3295L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000397345.3_Missense_Mutation_p.R3295L			P20929	NEBU_HUMAN	nebulin			301					TTCAATGTTCCGGGCTCCAAT	0.438000																								0							SO:0001583	missense			ENST00000172853.10	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.8	4.461325	0.84317	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.09538	2.97;3.02;2.99;2.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.45672	0.864	P	0.45037	0.467	T	0.00632	-1.1635	10	0.49607	T	0.09	.	19.5601	0.95368	0.0:1.0:0.0:0.0	.	3052	P20929	NEBU_HUMAN	L	3052;3295;3295;3052	ENSP00000386259:R3052L;ENSP00000380505:R3295L;ENSP00000416578:R3295L;ENSP00000172853:R3052L	ENSP00000172853:R3052L	R	-	2	0	NEB	152192542	0.989000	0.36119	0.899000	0.35326	0.954000	0.61252	3.126000	0.50477	2.620000	0.88729	0.650000	0.86243	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	10	1165	0	277		0	0	0	0	277	2		0	0	0	0	0	2	1	0.996470	10	1137	0	276	2		0	0	0	0	277	2	-1.772008	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.080000	0.030000	1.000000	0.080000	0.303691	0.080000	0	5.000000e-02	1
MARCH7	64844	broad.mit.edu	37	2	160605292	160605292	+	Silent	SNP	C	C	A	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.4	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000409175.1_Silent_p.T497T|MARCH7_ENST00000539065.1_Silent_p.T441T	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase			18					GTAATTTGACCGACAATGTCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000259050.4	0	1	hg19	CCDS2210.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	0	0	0	12	1106	0	294	0	1.644708e-01	0	62	0	294	2		0	0	0	0	0	2	1	0.998970	12	1079	0	292	2		0	0	0	0	294	2	-1.860174	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.110000	0.050000	1.000000	0.100000	0.319381	0.110000	0	7.000000e-02	1
SCN9A	6335	broad.mit.edu	37	2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000409435.1	-	23	4383	c.4384C>A	c.(4384-4386)Caa>Aaa	p.Q1462K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1463K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit			108				Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTCTGTTGGTTGAAATTA	0.264000																								0							SO:0001583	missense			ENST00000409435.1	0	1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628730	0.87560	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000002	D	0.97895	0.9308	M	0.80847	2.515	0.80722	D	1	D	0.61697	0.99	P	0.60541	0.876	D	0.98554	1.0638	10	0.87932	D	0	.	19.3055	0.94161	0.0:0.0:1.0:0.0	.	1451	E7EUN6	.	K	1451;1463;1463;1462	ENSP00000386306:Q1451K;ENSP00000364536:Q1463K;ENSP00000304748:Q1463K;ENSP00000386330:Q1462K	ENSP00000304748:Q1463K	Q	-	1	0	SCN9A	166791337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.960000	0.87893	2.559000	0.86315	0.591000	0.81541	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	0	0	0	6	144	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.965225	6	143	0	18	2		0	0	0	0	18	2	-3.912536	1	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.450000	0.170000	1.000000	0.360000	0.553187	0.450000	0	2.800000e-01	1
TTN	7273	broad.mit.edu	37	2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000591111.1	-	209	43801	c.43577G>T	c.(43576-43578)cGa>cTa	p.R14526L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN_ENST00000589042.1_Missense_Mutation_p.R16167L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ATTGGCTGTTCGATCTCTCCA	0.433000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.85	2.060814	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39226	0.1070	N	0.05330	-0.07	0.32798	N	0.500288	P;P;P;P	0.38992	0.653;0.653;0.653;0.653	B;B;B;B	0.41619	0.361;0.361;0.361;0.361	T	0.56288	-0.8004	9	0.87932	D	0	.	14.3984	0.67027	0.0:0.7375:0.2625:0.0	.	7102;7227;7294;14526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	13599;7102;7294;7227;7102	ENSP00000343764:R13599L;ENSP00000434586:R7102L;ENSP00000340554:R7294L;ENSP00000352154:R7227L	ENSP00000340554:R7294L	R	-	2	0	TTN	179188417	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.362000	0.52314	2.720000	0.93068	0.655000	0.94253	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	16	904	0	234	0	0	0	1	0	234	2		0	0	0	0	0	2	1	0.999923	16	891	0	232	2		0	0	0	0	234	2	-1.896311	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.170000	0.090000	1.000000	0.160000	0.366691	0.170000	0	1.200000e-01	1
GEN1	348654	broad.mit.edu	37	2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				GTTAAGACTCGAATCAGAAAT	0.274000								Homologous recombination																0							SO:0001583	missense			ENST00000381254.2	0	1	hg19	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449211	0.84101	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000528873;ENST00000536097	T;T;T	0.44083	0.93;0.93;0.93	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000008	T	0.66723	0.2818	M	0.76002	2.32	0.50467	D	0.999871	D	0.89917	1.0	D	0.85130	0.997	T	0.70238	-0.4927	10	0.87932	D	0	-14.2737	18.7563	0.91833	0.0:0.0:1.0:0.0	.	406	Q17RS7	GEN_HUMAN	L	406;406;177;43	ENSP00000318977:R406L;ENSP00000370653:R406L;ENSP00000431542:R177L	ENSP00000318977:R406L	R	+	2	0	GEN1	17822764	1.000000	0.71417	0.925000	0.36789	0.894000	0.52154	4.945000	0.63568	2.601000	0.87937	0.655000	0.94253	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	0	0	0	11	655	0	140	0	3.337541e-03	0	5	0	140	2		0	0	0	0	0	2	1	0.998187	10	645	0	138	2		0	0	0	0	140	2	-2.360417	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.170000	0.080000	1.000000	0.150000	0.363263	0.170000	0	1.100000e-01	1
COL3A1	1281	broad.mit.edu	37	2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1			126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	Collagenase(DB00048)	TAGTCCTGGTGGTAAAGGCGA	0.373000																								0							SO:0001583	missense			ENST00000304636.3	0	1	hg19	CCDS2297.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.180414|3.180414	0.57800|0.57800	.|.	.|.	ENSG00000168542|ENSG00000168542	ENST00000304636;ENST00000317840|ENST00000450867	D;D|.	0.94376|.	-3.41;-3.41|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.52532|.	D|.	0.000069|.	T|T	0.53706|0.53706	0.1813|0.1813	L|L	0.29908|0.29908	0.895|0.895	0.39856|0.39856	D|D	0.973315|0.973315	D|.	0.76494|.	0.999|.	D|.	0.65323|.	0.934|.	T|T	0.49735|0.49735	-0.8908|-0.8908	10|5	0.56958|.	D|.	0.05|.	.|.	12.7679|12.7679	0.57403|0.57403	0.0824:0.0:0.9176:0.0|0.0824:0.0:0.9176:0.0	.|.	394|.	P02461|.	CO3A1_HUMAN|.	C|L	394|60	ENSP00000304408:G394C;ENSP00000315243:G394C|.	ENSP00000304408:G394C|.	G|W	+|+	1|2	0|0	COL3A1|COL3A1	189567039|189567039	0.787000|0.787000	0.28750|0.28750	0.996000|0.996000	0.52242|0.52242	0.984000|0.984000	0.73092|0.73092	2.172000|2.172000	0.42463|0.42463	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGT|TGG		TCGA-HZ-A77Q-01A-11D-A36O-08	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	0	0	0	8	400	0	96	1	1	4	7483	0	96	2		0	0	0	0	0	2	1	0.988528	7	392	0	96	2		0	0	0	0	96	2	-3.182292	1	0	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.190000	0.080000	1.000000	0.170000	0.300060	0.190000	0	1.300000e-01	3.300000e-01
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7			205					CTGCTAAATTCGACAGCAGTT	0.393000																								0							SO:0001587	stop_gained			ENST00000312428.6	0	1	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	41	8.546907	0.98857	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.74	5.74	0.90152	.	0.062767	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	19.9196	0.97082	0.0:1.0:0.0:0.0	.	.	.	.	X	775	.	ENSP00000311273:E775X	E	-	1	0	DNAH7	196533797	0.999000	0.42202	0.920000	0.36463	0.863000	0.49368	4.270000	0.58896	2.708000	0.92522	0.650000	0.86243	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	0	0	12	670	0	143		0	0	0	0	143	2		0	0	0	0	0	2	1	0.999039	10	662	0	141	2		0	0	0	0	143	2	-2.389722	0	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.160000	0.080000	1.000000	0.150000	0.278020	0.160000	0	1.200000e-01	2.600000e-01
HECW2	57520	broad.mit.edu	37	2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.3	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					ATACTGGTGTATTAGTGCAAG	0.403000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636658	0.87760	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.57907	0.37;0.37	5.17	5.17	0.71159	HECT (4);	0.089981	0.85682	D	0.000000	T	0.62429	0.2427	M	0.64997	1.995	0.80722	D	1	D	0.53619	0.961	P	0.52627	0.704	T	0.67581	-0.5634	10	0.87932	D	0	.	15.1845	0.72989	1.0:0.0:0.0:0.0	.	1319	Q9P2P5	HECW2_HUMAN	T	963;1319	ENSP00000386775:I963T;ENSP00000260983:I1319T	ENSP00000260983:I1319T	I	-	2	0	HECW2	196798801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.182000	0.69389	0.459000	0.35465	ATA		TCGA-HZ-A77Q-01A-11D-A36O-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	1	36	320	0	87	0	2.772615e-01	0	10	0	87	2		0	0	0	0	0	2	1	1.000000	36	314	0	86	2		0	0	0	0	87	2	-20.000000	1	0	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.920000	0.650000	1.000000	1.000000	0.900331	0.920000	1	7.700000e-01	1
NIF3L1	60491	broad.mit.edu	37	2	201760066	201760066	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409357.1_Silent_p.R227R			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)			13					TTTTCTTTCCCGGAACAAACA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000409020.1	0	1	hg19	CCDS46485.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	0	0	0	10	541	0	108	0	1.355065e-01	0	32	0	108	2		0	0	0	0	0	2	1	0.996566	10	529	0	107	2		0	0	0	0	108	2	-2.216423	0	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.170000	0.080000	1.000000	0.160000	0.284637	0.170000	0	1.200000e-01	2.900000e-01
CYP20A1	57404	broad.mit.edu	37	2	204137450	204137450	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Silent_p.R228R	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1			11					AAACATGACTCGGAAAAAACA	0.313000																								0							SO:0001819	synonymous_variant			ENST00000356079.4	0	1	hg19	CCDS2357.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	0	0	0	6	247	0	45	0	9.140888e-02	0	17	0	45	2		0	0	0	0	0	2	1	0.962825	5	242	0	45	2		0	0	0	0	45	2	-2.876436	1	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.240000	0.090000	1.000000	0.210000	0.341067	0.240000	0	1.500000e-01	4.300000e-01
MDH1B	130752	broad.mit.edu	37	2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000449792.1_5'UTR	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)			34					TTATTCTTTTCACACACATCT	0.373000													Pancreas(76;29 1355 28675 37177 51207)											0							SO:0001587	stop_gained			ENST00000374412.3	0	1	hg19	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697252	0.15106	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	.	.	.	5.84	-1.43	0.08884	.	0.678176	0.16290	N	0.220957	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-13.4765	6.6365	0.22885	0.113:0.437:0.0:0.4499	.	.	.	.	X	53	.	ENSP00000363533:E53X	E	-	1	0	MDH1B	207330319	0.957000	0.32711	0.889000	0.34880	0.015000	0.08874	0.114000	0.15520	0.073000	0.16731	-0.768000	0.03414	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	0	0	0	10	510	0	97	0	4.816604e-04	0	2	0	97	2		0	0	0	0	0	2	1	0.996650	9	502	0	97	2		0	0	0	0	97	2	-2.799896	1	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.180000	0.080000	1.000000	0.170000	0.293618	0.180000	0	1.300000e-01	3.000000e-01
USP37	57695	broad.mit.edu	37	2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000415516.1_Missense_Mutation_p.L121V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000418019.1_Missense_Mutation_p.L193V	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37			35		Renal(207;0.0915)			CCTGATCTAAGAGGTGTTGAA	0.398000																								0							SO:0001583	missense			ENST00000258399.3	1	1	hg19	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	G	6.869	0.529682	0.13127	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.44881	1.02;1.02;1.02;1.02;0.91	4.83	3.93	0.45458	.	0.503731	0.21796	N	0.068985	T	0.25531	0.0621	N	0.24115	0.695	0.25253	N	0.989657	P;B;B	0.47910	0.902;0.372;0.167	B;B;B	0.40066	0.318;0.053;0.016	T	0.09552	-1.0669	10	0.13853	T	0.58	-13.4553	11.632	0.51181	0.0864:0.0:0.9136:0.0	.	193;121;193	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	V	193;193;121;193;193	ENSP00000258399:L193V;ENSP00000393662:L193V;ENSP00000400902:L121V;ENSP00000396585:L193V;ENSP00000345043:L193V	ENSP00000258399:L193V	L	-	1	0	USP37	219119911	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.336000	0.59304	2.506000	0.84524	0.563000	0.77884	CTT		TCGA-HZ-A77Q-01A-11D-A36O-08	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	1	0	1	83	464	0	121	1	3.486466e-01	2	6	0	121	2		0	0	0	0	0	2	1	1.000000	82	457	0	121	2		0	0	0	0	121	2	-3.018657	1	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.990000	0.990000	1.000000	1.000000	0.999916	0.990000	1	9.900000e-01	1
PTPRN	5798	broad.mit.edu	37	2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000423636.2_5'UTR|PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N			65		Renal(207;0.0474)			TGTAAGCGTTGGAGAACTGGG	0.557000																								0							SO:0001587	stop_gained			ENST00000295718.2	0	1	hg19	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613044	0.87258	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579;ENST00000440552	.	.	.	5.09	5.09	0.68999	.	0.101357	0.38778	N	0.001570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.3985	0.74816	0.0:0.0:1.0:0.0	.	.	.	.	X	81;81;81;81;48	.	ENSP00000295718:Q81X	Q	-	1	0	PTPRN	219880449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.229000	0.72294	2.359000	0.80004	0.460000	0.39030	CAA		TCGA-HZ-A77Q-01A-11D-A36O-08	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	1	0	0	35	215	0	53	0	6.058377e-01	0	14	0	53	2		0	0	0	0	0	2	1	1.000000	33	210	0	52	2		0	0	0	0	53	2	-3.079316	1	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.990000	0.900000	1.000000	1.000000	0.994105	0.990000	1	9.900000e-01	1
TMEM198	130612	broad.mit.edu	37	2	220412305	220412305	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Silent_p.R82R			Q66K66	TM198_HUMAN	transmembrane protein 198			16		Renal(207;0.0376)			CCTCTGCTACCGAGAGCGGGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000344458.2	0	1	hg19	CCDS33385.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	0	0	0	10	993	0	328	0	1.219795e-02	0	15	0	328	2		0	0	0	0	0	2	0	0.399682	11	977	1	325	12		0	0	0	0	328	2	-1.797106	0	1	0	0		1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.090000	0.040000	1.000000	0.090000	0.216437	0.090000	0	6.000000e-02	1.600000e-01
SLC19A3	80704	broad.mit.edu	37	2	228564041	228564041	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3			30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000258403.3	0	1	hg19	CCDS2468.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1	0	0	0	8	433	0	146	0	1.344066e-03	0	3	0	146	2		0	0	0	0	0	2	1	0.988693	9	424	0	144	2		0	0	0	0	146	2	-2.867036	1	1	121412	41	50	1	1	2	3	2.095160	0	0.230000	1.890000	0.244765	0.170000	0.070000	1.000000	0.160000	0.287667	0.170000	0	1.200000e-01	3.000000e-01
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	p.R97S(2)		11	all_hematologic(175;0.115)				TGGTTTGATTCGTATGACTGA	0.423000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000403687.3	0	1	hg19	CCDS46256.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486860	0.63962	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000444784;ENST00000423159;ENST00000407811	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.83	5.83	0.93111	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.187977	0.48767	D	0.000170	T	0.44008	0.1273	L	0.33485	1.01	0.43698	D	0.996152	P;P	0.38048	0.616;0.616	P;P	0.44597	0.454;0.454	T	0.11991	-1.0565	10	0.33141	T	0.24	-7.3146	20.1218	0.97964	0.0:1.0:0.0:0.0	.	97;97	D6W583;Q8IV61	.;GRP3_HUMAN	S	97	ENSP00000385886:R97S;ENSP00000393866:R97S;ENSP00000384192:R97S;ENSP00000400602:R97S;ENSP00000388139:R97S;ENSP00000383917:R97S	ENSP00000385886:R97S	R	+	1	0	RASGRP3	33599176	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.883000	0.48554	2.763000	0.94921	0.561000	0.74099	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	0	0	0	10	845	0	216	0	5.968682e-03	0	9	0	216	2		0	0	0	0	0	2	1	0.996721	9	837	0	214	2		0	0	0	0	216	2	-1.947892	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.120000	0.050000	1.000000	0.100000	0.327831	0.120000	0	8.000000e-02	1
PLEKHH2	130271	broad.mit.edu	37	2	43924402	43924402	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			CTTTTTATCTCGAGCAAGGAG	0.428000																								0							SO:0001819	synonymous_variant			ENST00000282406.4	0	1	hg19	CCDS1812.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	0	0	12	533	0	123	0	1.911489e-02	0	9	0	123	2		0	0	0	0	0	2	1	0.999048	11	527	0	122	2		0	0	0	0	123	2	-2.026186	0	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.230000	0.110000	1.000000	0.200000	0.403290	0.230000	0	1.600000e-01	1
CCDC85A	114800	broad.mit.edu	37	2	56419683	56419683	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A			38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		ATGATGACCGGCAGAAAGGCA	0.532000																								0							SO:0001819	synonymous_variant			ENST00000407595.2	0	1	hg19	CCDS46290.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1	0	0	0	5	289	0	98	0	0	0	1	0	98	2		0	0	0	0	0	2	1	0.936374	5	286	0	97	2		0	0	0	0	98	2	-3.058419	1	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.190000	0.060000	1.000000	0.150000	0.378503	0.190000	0	1.100000e-01	1
PCYOX1	51449	broad.mit.edu	37	2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1			15					CAGTAGTGTCGAAAAATTACT	0.423000																								0							SO:0001587	stop_gained			ENST00000433351.2	0	1	hg19	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	G	36	5.695587	0.96802	.	.	ENSG00000116005	ENST00000422380;ENST00000505044;ENST00000414812;ENST00000433351;ENST00000264441;ENST00000451279;ENST00000545138	.	.	.	5.4	5.4	0.78164	.	0.044521	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.5204	17.9005	0.88902	0.0:0.0:1.0:0.0	.	.	.	.	X	103;103;103;180;180;103;102	.	ENSP00000264441:E180X	E	+	1	0	PCYOX1	70355638	1.000000	0.71417	0.965000	0.40720	0.958000	0.62258	9.581000	0.98210	2.811000	0.96726	0.555000	0.69702	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	0	0	0	12	557	0	148	0	1.829168e-01	0	34	0	148	2		0	0	0	0	0	2	1	0.999070	13	550	0	148	2		0	0	0	0	148	2	-2.593863	1	1	0	0		1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.220000	0.100000	1.000000	0.190000	0.396413	0.220000	0	1.500000e-01	1
TEKT4	150483	broad.mit.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4			28					CACAACGTGGCGGCACTGAAG	0.607000																								0							SO:0001583	missense			ENST00000295201.4	1	1	hg19	CCDS2005.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	.	2.496	-0.316380	0.05422	.	.	ENSG00000163060	ENST00000295201	T	0.02579	4.24	2.47	0.0321	0.14174	.	0.390516	0.24975	N	0.034109	T	0.01800	0.0057	N	0.26162	0.8	0.09310	N	1	B	0.30439	0.279	B	0.20577	0.03	T	0.47761	-0.9092	10	0.33940	T	0.23	-16.8492	5.7335	0.18053	0.2129:0.5766:0.2105:0.0	.	325	Q8WW24	TEKT4_HUMAN	V	325	ENSP00000295201:A325V	ENSP00000295201:A325V	A	+	2	0	TEKT4	94905097	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.696000	0.05104	0.323000	0.23307	0.465000	0.42564	GCG		TCGA-HZ-A77Q-01A-11D-A36O-08	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	1	0	1	33	279	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1.000000	33	274	0	115	2		0	0	0	0	116	2	-3.075758	1	1	121412	18	44	1	1	2	3	2.135298	1	0.230000	1.890000	0.267085	0.990000	0.700000	1.000000	1.000000	0.943844	0.990000	1	8.400000e-01	1
TBC1D23	55773	broad.mit.edu	37	3	100039700	100039700	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000344949.5_Silent_p.R620R|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23			25					TATACAGTCTCGACAAGCGCT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000394144.4	0	1	hg19	CCDS56265.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	0	0	0	9	426	0	86	0	2.009575e-01	0	36	0	86	2		0	0	0	0	0	2	1	0.994142	8	424	0	86	2		0	0	0	0	86	2	-2.910006	1	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.180000	0.080000	0.320000	0.180000	0.196989	0.180000	0	1.300000e-01	2.600000e-01
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.818G>C	c.(817-819)gGa>gCa	p.G273A	DZIP3_ENST00000463306.1_Splice_Site_p.G273A	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3			45					TTTTTCCAGGGATTTTTTCAG	0.254000																								0							SO:0001630	splice_region_variant			ENST00000361582.3	0	1	hg19	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	g	15.78	2.934030	0.52866	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.44881	0.91;0.91;0.91	5.08	5.08	0.68730	.	0.000000	0.51477	D	0.000098	T	0.30885	0.0779	N	0.19112	0.55	0.39140	D	0.96201	P	0.38020	0.615	B	0.37480	0.251	T	0.33111	-0.9881	10	0.87932	D	0	-15.8714	13.8419	0.63444	0.0:0.0:1.0:0.0	.	273	Q86Y13	DZIP3_HUMAN	A	273	ENSP00000355028:G273A;ENSP00000418115:G273A;ENSP00000419981:G273A	ENSP00000355028:G273A	G	+	2	0	DZIP3	109836409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.216000	0.58540	2.617000	0.88574	0.637000	0.83480	GGA		TCGA-HZ-A77Q-01A-11D-A36O-08	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	0	0	0	13	320	0	75	0	1.821968e-03	0	2	0	75	2		0	0	0	0	0	2	1	0.999522	13	316	0	75	2		0	0	0	0	75	2	-4.192802	1	0	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.340000	0.190000	0.550000	0.340000	0.358894	0.340000	0	2.600000e-01	4.500000e-01
GATA2	2624	broad.mit.edu	37	3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2			79					CAGGGCAGCTGCACTGAAGGG	0.612000			Mis		AML(CML blast transformation)										Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0							SO:0001583	missense			ENST00000341105.2	1	1	hg19	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846692	0.51164	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97303	-4.33;-4.32;-4.33	4.77	4.77	0.60923	.	0.238659	0.42294	D	0.000725	D	0.94202	0.8139	L	0.29908	0.895	0.50039	D	0.999841	P;B	0.36535	0.557;0.049	B;B	0.36845	0.234;0.044	D	0.93760	0.7066	10	0.36615	T	0.2	-15.2932	18.1584	0.89701	0.0:0.0:1.0:0.0	.	416;430	P23769-2;P23769	.;GATA2_HUMAN	E	430;416;430	ENSP00000345681:A430E;ENSP00000400259:A416E;ENSP00000417074:A430E	ENSP00000345681:A430E	A	-	2	0	GATA2	129682706	1.000000	0.71417	0.603000	0.28903	0.746000	0.42486	3.841000	0.55850	2.355000	0.79922	0.491000	0.48974	GCA		TCGA-HZ-A77Q-01A-11D-A36O-08	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	1	0	0	29	285	0	79	0	5.712663e-01	1	19	0	79	2		0	0	0	0	0	2	1	1.000000	29	279	0	78	2		0	0	0	0	79	2	-10.373710	1	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.800000	0.550000	1.000000	1.000000	0.806977	0.800000	0	6.600000e-01	9.500000e-01
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1		PLXND1/TMCC1(4)	25					CTGCTGCTGCTGCAGCTCCAT	0.572000																								0							SO:0001583	missense			ENST00000393238.3	0	1	hg19	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		TCGA-HZ-A77Q-01A-11D-A36O-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	0	8	315	1	99	0	1.273846e-01	0	22	1	99	2	0	0	0	1	0	0	2	1	0.988767	3	313	0	104	2		0	0	0	1	99	2	-2.148358	0	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.220000	0.100000	0.400000	0.210000	0.237742	0.220000	0	1.500000e-01	3.100000e-01
TRIM42	287015	broad.mit.edu	37	3	140401487	140401487	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42			69					AGCTGCAGAAGCACGCCGAGG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000286349.3	1	1	hg19	CCDS3113.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	0	43	349	0	126		0	0	0	0	126	2	1	1	183	1240	0	1155	2	1	1.000000	42	345	0	126	2		0	0	0	0	126	2	-20.000000	1	1	121412	3	39	1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.940000	0.700000	1.000000	1.000000	0.923056	0.940000	1	8.100000e-01	1
TRIM42	287015	broad.mit.edu	37	3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	p.R245C(1)		69					CCGCAACAAGCGCATCGCTTA	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000286349.3	1	1	hg19	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565527	0.27915	.	.	ENSG00000155890	ENST00000286349	T	0.40476	1.03	5.2	3.2	0.36748	.	0.322034	0.24884	N	0.034840	T	0.39118	0.1066	L	0.43152	1.355	0.09310	N	0.999999	D	0.71674	0.998	P	0.47528	0.549	T	0.26467	-1.0102	10	0.87932	D	0	-34.1415	9.6896	0.40120	0.4607:0.5393:0.0:0.0	.	245	Q8IWZ5	TRI42_HUMAN	C	245	ENSP00000286349:R245C	ENSP00000286349:R245C	R	+	1	0	TRIM42	141884385	0.002000	0.14202	0.157000	0.22605	0.010000	0.07245	1.370000	0.34238	1.193000	0.43086	0.561000	0.74099	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	1	0	1	42	353	0	109		0	0	0	0	109	2	1	1	126	996	2	948	9	1	1.000000	42	345	0	109	2		0	0	0	0	109	2	-15.457470	1	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.910000	0.670000	1.000000	1.000000	0.904632	0.910000	1	7.900000e-01	1
MFN1	55669	broad.mit.edu	37	3	179083014	179083014	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1			31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		TATGGAAGACGTAAGTTGTTA	0.318000																								0							SO:0001630	splice_region_variant			ENST00000471841.1	1	1	hg19	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372164	0.82573	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MFN1	180565708	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.414000	0.97362	2.649000	0.89929	0.563000	0.77884	.		TCGA-HZ-A77Q-01A-11D-A36O-08	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	1	0	1	30	202	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1.000000	30	196	0	47	2		0	0	0	0	47	2	-3.320067	1	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.990000	0.780000	1.000000	1.000000	0.975248	0.990000	1	9.300000e-01	1
MCF2L2	23101	broad.mit.edu	37	3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2			72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		GCTGGAGGCCGGGTCTTCCTT	0.493000																								0							SO:0001583	missense			ENST00000328913.3	0	1	hg19	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558511	0.27827	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01787	4.64;4.65	2.97	2.97	0.34412	.	1.214100	0.06023	N	0.651619	T	0.02455	0.0075	N	0.19112	0.55	0.31814	N	0.626829	D	0.53619	0.961	P	0.48454	0.578	T	0.46965	-0.9153	10	0.27785	T	0.31	.	9.6801	0.40065	0.0:0.0:1.0:0.0	.	997	Q86YR7	MF2L2_HUMAN	Q	997	ENSP00000328118:P997Q;ENSP00000420070:P997Q	ENSP00000328118:P997Q	P	-	2	0	MCF2L2	184393507	0.000000	0.05858	0.091000	0.20842	0.066000	0.16364	0.072000	0.14617	1.953000	0.56701	0.467000	0.42956	CCG		TCGA-HZ-A77Q-01A-11D-A36O-08	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	0	0	0	8	522	0	154		0	0	0	0	154	2		0	0	0	0	0	2	1	0.988346	8	509	0	152	2		0	0	0	0	154	2	-2.015104	0	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.130000	0.060000	0.250000	0.130000	0.145833	0.130000	0	9.000000e-02	1.900000e-01
KLHL24	54800	broad.mit.edu	37	3	183388894	183388894	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.2	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24			27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		CTTTTCAAATCGATGGACTGA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000454652.2	0	1	hg19	CCDS3246.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	0	0	0	10	663	0	198	0	4.759266e-02	0	21	0	198	2		0	0	0	0	0	2	1	0.996589	9	652	0	197	2		0	0	0	0	198	2	-2.333631	0	1	121412	1	37	1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.130000	0.060000	0.230000	0.130000	0.140670	0.130000	0	9.000000e-02	1.800000e-01
YEATS2	55689	broad.mit.edu	37	3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	p.G568W(1)		49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		TTGCCCAATTGGGAGTCACCC	0.408000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000305135.5	0	1	hg19	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393441	0.83011	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.30714	1.52	6.03	6.03	0.97812	.	0.361792	0.27691	N	0.018248	T	0.47248	0.1435	L	0.27053	0.805	0.49687	D	0.999813	D	0.89917	1.0	D	0.97110	1.0	T	0.43925	-0.9361	10	0.87932	D	0	-17.9952	20.5666	0.99351	0.0:0.0:1.0:0.0	.	568	Q9ULM3	YETS2_HUMAN	W	568	ENSP00000306983:G568W	ENSP00000306983:G568W	G	+	1	0	YEATS2	184962034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.120000	0.77153	2.854000	0.98071	0.655000	0.94253	GGG		TCGA-HZ-A77Q-01A-11D-A36O-08	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	0	0	0	10	758	0	172	0	2.278174e-02	0	16	0	172	2		0	0	0	0	0	2	1	0.996642	10	747	0	172	2		0	0	0	0	172	2	-1.879989	0	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.110000	0.050000	0.200000	0.120000	0.123391	0.110000	0	8.000000e-02	1.600000e-01
SLC4A7	9497	broad.mit.edu	37	3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7			38				Sodium bicarbonate(DB01390)	CCATGATGACCACAAGCTGAC	0.363000																								0							SO:0001583	missense			ENST00000295736.5	0	1	hg19	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874189	0.72180	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.71	0.654	0.17833	Bicarbonate transporter, C-terminal (1);	0.319899	0.37483	N	0.002069	D	0.87406	0.6169	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.991;0.99;0.988;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.953;0.965;0.921;0.994;0.998;0.979	D	0.85536	0.1212	10	0.66056	D	0.02	.	9.6876	0.40109	0.0:0.6546:0.0:0.3454	.	811;696;807;811;824;365;691;815;696	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	366;815;691;824;811;696;807;696;811;700;365;711	ENSP00000411031:G366C;ENSP00000295736:G815C;ENSP00000416368:G691C;ENSP00000390394:G824C;ENSP00000414797:G811C;ENSP00000394252:G696C;ENSP00000406605:G807C;ENSP00000407382:G696C;ENSP00000406804:G811C;ENSP00000395336:G700C;ENSP00000373429:G365C;ENSP00000388703:G711C	ENSP00000295736:G815C	G	-	1	0	SLC4A7	27414806	0.989000	0.36119	0.287000	0.24848	0.950000	0.60333	0.479000	0.22228	-0.163000	0.10946	0.563000	0.77884	GGT		TCGA-HZ-A77Q-01A-11D-A36O-08	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	0	0	0	8	496	0	113	0	2.338044e-02	0	13	0	113	2		0	0	0	0	0	2	1	0.988856	8	489	0	112	2		0	0	0	0	113	2	-2.469831	0	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.140000	0.060000	0.260000	0.140000	0.153276	0.140000	0	9.000000e-02	2.000000e-01
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000449836.1_Silent_p.R305R|ZNF502_ENST00000436624.2_Silent_p.R305R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502			19					CTCTTCTTTTCGAAAACACTC	0.408000																								0							SO:0001819	synonymous_variant			ENST00000296091.4	0	1	hg19	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053853	0.08291	.	.	ENSG00000196653	ENST00000427783	.	.	.	4.27	-0.248	0.13015	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.40478	-0.9561	5	0.87932	D	0	-0.978	6.8198	0.23851	0.4135:0.3026:0.2839:0.0	.	.	.	.	L	304	.	ENSP00000397812:F304L	F	+	3	2	ZNF502	44738226	0.547000	0.26465	0.305000	0.25099	0.935000	0.57460	2.045000	0.41250	0.132000	0.18615	0.655000	0.94253	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	0	0	0	14	864	0	213	0	1.257250e-02	0	10	0	213	2		0	0	0	0	0	2	1	0.999720	14	849	0	210	2		0	0	0	0	213	2	-2.321300	0	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.130000	0.070000	0.220000	0.140000	0.147310	0.130000	0	1.000000e-01	1.800000e-01
XCR1	2829	broad.mit.edu	37	3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1			14					GAGCTTGACCGTGCGGTGGCG	0.582000																								0							SO:0001583	missense			ENST00000309285.3	1	1	hg19	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391139	0.62066	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.38887	1.11;1.11	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.109301	0.64402	D	0.000006	T	0.72415	0.3457	M	0.88450	2.955	0.48571	D	0.999674	D	0.89917	1.0	D	0.85130	0.997	T	0.77135	-0.2699	10	0.87932	D	0	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	223	P46094	XCR1_HUMAN	M	223	ENSP00000310405:T223M;ENSP00000438119:T223M	ENSP00000310405:T223M	T	-	2	0	XCR1	46037776	1.000000	0.71417	0.542000	0.28115	0.351000	0.29236	7.903000	0.87398	2.696000	0.92011	0.650000	0.86243	ACG		TCGA-HZ-A77Q-01A-11D-A36O-08	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2	1	0	1	21	200	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	0.999998	21	199	0	51	2		0	0	0	0	53	2	-20.000000	1	0	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.820000	0.530000	1.000000	1.000000	0.824297	0.820000	0	6.600000e-01	1
RBM6	10180	broad.mit.edu	37	3	50091792	50091792	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000266022.4	+	8	1916	c.1657C>A	c.(1657-1659)Cga>Aga	p.R553R	RBM6_ENST00000442092.1_Silent_p.R31R|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000443081.1_Silent_p.R421R	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	p.R553R(1)		33					TGGTGGGCACCGATCTTCCTG	0.378000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000266022.4	0	1	hg19	CCDS2809.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	0	0	0	8	798	0	208	0	2.336225e-01	0	82	0	208	2		0	0	0	0	0	2	1	0.987946	7	774	0	208	2		0	0	0	0	208	2	-1.706342	0	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.080000	0.030000	0.160000	0.080000	0.096229	0.080000	0	5.000000e-02	1.300000e-01
FLNB	2317	broad.mit.edu	37	3	58108948	58108948	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000295956.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000357272.4_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000348383.5_Silent_p.I1085I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta			120					AGGCCAAAATCGAGTGCTCCG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000295956.4	0	1	hg19	CCDS2885.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	0	0	9	548	1	134	0	8.977713e-02	0	89	1	134	4		0	0	0	0	0	2	0	0.139725	8	538	1	133	15		0	0	0	1	134	2	-2.753785	1	1	0	0		1	0	1	1	2.025108	0	0.230000	1.890000	0.228225	0.140000	0.060000	0.250000	0.140000	0.154258	0.140000	0	1.000000e-01	2.000000e-01
DNAJB14	79982	broad.mit.edu	37	4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14			5					TTGCTTTGATCGCCACTACCT	0.428000																								0							SO:0001583	missense			ENST00000442697.2	0	1	hg19	CCDS34035.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503702	0.44558	.	.	ENSG00000164031	ENST00000442697	T	0.64618	-0.11	5.7	5.7	0.88788	.	0.212421	0.39020	N	0.001489	T	0.56217	0.1970	L	0.36672	1.1	0.23243	N	0.998052	B	0.12630	0.006	B	0.10450	0.005	T	0.53056	-0.8492	10	0.62326	D	0.03	.	18.0119	0.89226	0.0:1.0:0.0:0.0	.	71	Q8TBM8	DJB14_HUMAN	Y	71	ENSP00000404381:D71Y	ENSP00000404381:D71Y	D	-	1	0	DNAJB14	101070724	0.983000	0.35010	0.037000	0.18230	0.890000	0.51754	2.588000	0.46137	2.675000	0.91044	0.655000	0.94253	GAT		TCGA-HZ-A77Q-01A-11D-A36O-08	DNAJB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253696.2	0	0	0	10	691	0	182	0	8.226436e-02	0	30	0	182	2		0	0	0	0	0	2	1	0.996721	13	680	0	181	2		0	0	0	0	182	2	-2.190849	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.120000	0.060000	0.220000	0.120000	0.135094	0.120000	0	8.000000e-02	1.700000e-01
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			TCAAAATGACCGCCATCTTGA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000357077.4	0	1	hg19	CCDS3702.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	0	9	523	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	0.993829	8	516	0	133	2		0	0	0	0	133	2	-2.472408	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.150000	0.070000	0.270000	0.140000	0.161434	0.150000	0	1.000000e-01	2.100000e-01
USP53	54532	broad.mit.edu	37	4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000274030.6	+	19	4339	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000450251.1_Missense_Mutation_p.H1054N	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53			27					ATTGAAATACCATCAGAGGCC	0.363000																								0							SO:0001583	missense			ENST00000274030.6	0	1	hg19	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357258	0.61293	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.53857	0.6;0.6	5.89	4.16	0.48862	.	0.078821	0.53938	D	0.000049	T	0.49626	0.1568	M	0.66939	2.045	0.27596	N	0.949139	P	0.48764	0.915	B	0.40165	0.321	T	0.55730	-0.8095	10	0.87932	D	0	-14.5865	11.5943	0.50964	0.0:0.8585:0.0:0.1415	.	1054	Q70EK8	UBP53_HUMAN	N	1054	ENSP00000274030:H1054N;ENSP00000409906:H1054N	ENSP00000274030:H1054N	H	+	1	0	USP53	120433752	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.876000	0.48498	1.502000	0.48669	0.585000	0.79938	CAT		TCGA-HZ-A77Q-01A-11D-A36O-08	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	0	0	0	9	438	1	77	0	4.015073e-02	0	14	1	77	2		0	0	0	0	0	2	0	0.038519	10	433	1	76	19		0	0	0	1	77	2	-4.092103	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.180000	0.080000	0.310000	0.170000	0.191764	0.180000	0	1.200000e-01	2.500000e-01
FAT4	79633	broad.mit.edu	37	4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	p.R2324Q(2)		355					AGTCTGGATCGGGAAACAAAA	0.418000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000394329.3	0	1	hg19	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847652	0.71603	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01599	4.74;4.74	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.32106	U	0.006577	T	0.11196	0.0273	M	0.80847	2.515	0.58432	D	0.999999	D;D	0.89917	0.991;1.0	D;D	0.69479	0.942;0.964	T	0.02789	-1.1110	10	0.37606	T	0.19	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	622;2324	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	2324;622	ENSP00000377862:R2324L;ENSP00000335169:R622L	ENSP00000335169:R622L	R	+	2	0	FAT4	126557180	1.000000	0.71417	0.989000	0.46669	0.080000	0.17528	9.657000	0.98554	2.493000	0.84123	0.637000	0.83480	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	0	0	9	634	1	180	0	1.535699e-03	0	4	1	180	2		0	0	0	0	0	2	0	0.189794	9	625	1	178	14		0	0	0	1	180	2	-1.935648	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.120000	0.050000	0.220000	0.120000	0.133798	0.120000	0	8.000000e-02	1.700000e-01
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	p.R582H(2)		86	all_hematologic(180;0.24)				CGTATTATTACGCAATGCAGG	0.463000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000344876.4	1	1	hg19	CCDS34064.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.828	-0.036444	0.07497	0.0	1.16E-4	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55413	0.61;0.62;0.52	5.93	4.05	0.47172	Cadherin (2);Cadherin-like (1);	0.321942	0.22435	N	0.060092	T	0.29093	0.0723	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.04752	-1.0929	10	0.42905	T	0.14	.	7.9972	0.30275	0.0:0.5295:0.0:0.4705	.	362;582;582	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	H	582;582;362	ENSP00000355082:R582H;ENSP00000390688:R582H;ENSP00000425903:R362H	ENSP00000355082:R582H	R	-	2	0	PCDH18	138670948	1.000000	0.71417	0.067000	0.19924	0.245000	0.25701	1.744000	0.38268	0.679000	0.31345	0.563000	0.77884	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	1	0	1	98	753	0	264	0	1.474198e-01	0	6	0	264	2		0	0	0	0	0	2	1	1.000000	98	739	0	257	2		0	0	0	0	264	2	-20.000000	1	1	121412	30	52	1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.990000	0.810000	1.000000	1.000000	0.963607	0.990000	1	9.000000e-01	1
POU4F2	5458	broad.mit.edu	37	4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2			33	all_hematologic(180;0.151)				CCCAAGTACTCGGCACTGCAC	0.706000																								0							SO:0001583	missense			ENST00000281321.3	0	1	hg19	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437096	0.83885	.	.	ENSG00000151615	ENST00000281321	T	0.35048	1.33	4.77	4.77	0.60923	.	1.187410	0.06496	N	0.735449	T	0.48519	0.1504	L	0.27053	0.805	0.58432	D	0.999999	D	0.58620	0.983	P	0.61201	0.885	T	0.18650	-1.0330	10	0.42905	T	0.14	.	15.2933	0.73882	0.0:1.0:0.0:0.0	.	27	Q12837	PO4F2_HUMAN	L	27	ENSP00000281321:S27L	ENSP00000281321:S27L	S	+	2	0	POU4F2	147779822	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.301000	0.78850	2.189000	0.69895	0.561000	0.74099	TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	0	0	0	6	77	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.964209	5	76	0	37	2		0	0	0	0	37	2	-3.325037	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.650000	0.270000	1.000000	1.000000	0.668696	0.650000	0	4.300000e-01	9.200000e-01
RAPGEF2	9693	broad.mit.edu	37	4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2			70	all_hematologic(180;0.24)				TTTAATGACCCGAGCCTCAGG	0.343000																								0							SO:0001583	missense			ENST00000264431.4	0	1	hg19	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260007	0.80246	.	.	ENSG00000109756	ENST00000264431	T	0.51071	0.72	5.78	5.78	0.91487	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.46819	1.47	0.80722	D	1	B	0.32829	0.386	B	0.43413	0.419	T	0.45483	-0.9258	10	0.37606	T	0.19	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	323	Q9Y4G8	RPGF2_HUMAN	Q	323	ENSP00000264431:P323Q	ENSP00000264431:P323Q	P	+	2	0	RAPGEF2	160471084	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.825000	0.62708	2.894000	0.99253	0.655000	0.94253	CCG		TCGA-HZ-A77Q-01A-11D-A36O-08	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	0	0	0	11	537	1	126	0	4.350460e-02	0	15	1	126	2		0	0	0	0	0	2	0	0.204056	13	526	1	124	16		0	0	0	1	126	2	-2.041205	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.170000	0.090000	0.300000	0.170000	0.188122	0.170000	0	1.200000e-01	2.400000e-01
FAM53A	152877	broad.mit.edu	37	4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A			10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)		CCTCTTCCCACTGAGCACGCA	0.677000																								0							SO:0001583	missense			ENST00000308132.6	1	1	hg19	CCDS33939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.723|7.723	0.697617|0.697617	0.15106|0.15106	.|.	.|.	ENSG00000174137|ENSG00000174137	ENST00000308132;ENST00000489363;ENST00000461064;ENST00000472884|ENST00000489029	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	4.51|4.51	-5.78|-5.78	0.02362|0.02362	.|.	0.662582|.	0.12351|.	N|.	0.476531|.	T|T	0.27629|0.27629	0.0679|0.0679	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P|.	0.34757|.	0.372;0.467|.	B;B|.	0.32677|.	0.15;0.105|.	T|T	0.30179|0.30179	-0.9987|-0.9987	10|5	0.66056|.	D|.	0.02|.	-26.8945|-26.8945	4.7646|4.7646	0.13127|0.13127	0.1041:0.1229:0.124:0.649|0.1041:0.1229:0.124:0.649	.|.	266;266|.	Q6NSI3;C9JYQ7|.	FA53A_HUMAN;.|.	T|L	266|116	ENSP00000310057:S266T;ENSP00000419044:S266T;ENSP00000418243:S266T;ENSP00000426260:S266T|.	ENSP00000310057:S266T|.	S|V	-|-	2|1	0|0	FAM53A|FAM53A	1626587|1626587	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.064000|0.064000	0.16182|0.16182	0.666000|0.666000	0.25097|0.25097	-1.332000|-1.332000	0.02249|0.02249	0.563000|0.563000	0.77884|0.77884	AGT|GTG		TCGA-HZ-A77Q-01A-11D-A36O-08	FAM53A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359224.1	1	0	0	17	123	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	0.999965	17	117	0	34	2		0	0	0	0	36	2	-20.000000	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.990000	0.650000	1.000000	1.000000	0.940481	0.990000	1	8.300000e-01	1
CPE	1363	broad.mit.edu	37	4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E			26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAAATGATGTCAGAAACTTTA	0.303000																								0							SO:0001587	stop_gained			ENST00000402744.4	0	1	hg19	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	C	39	7.734767	0.98459	.	.	ENSG00000109472	ENST00000402744	.	.	.	6.08	6.08	0.98989	.	0.158173	0.44688	D	0.000421	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7725	20.6647	0.99678	0.0:1.0:0.0:0.0	.	.	.	.	X	471	.	ENSP00000386104:S471X	S	+	2	0	CPE	166638193	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.891000	0.75639	2.890000	0.99128	0.655000	0.94253	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	0	0	0	9	240	0	41	0	9.997680e-01	1	446	0	41	2		0	0	0	0	0	2	1	0.993805	9	234	0	40	2		0	0	0	0	41	2	-3.024748	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.320000	0.150000	0.550000	0.300000	0.340968	0.320000	0	2.300000e-01	4.400000e-01
GRK4	2868	broad.mit.edu	37	4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000504933.1_Missense_Mutation_p.L375M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000398051.4_Missense_Mutation_p.L343M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4			2					ACTTGGCTGTCTGATCTATGA	0.368000																								0							SO:0001583	missense			ENST00000398052.4	0	1	hg19	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321713	0.60634	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.21	3.38	0.38709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000015	T	0.26738	0.0654	N	0.11724	0.165	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.992;1.0	D;D;D;D	0.97110	1.0;0.989;0.949;1.0	T	0.12578	-1.0542	10	0.62326	D	0.03	-12.6799	4.8167	0.13371	0.0:0.5828:0.1638:0.2534	.	343;343;375;375	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	M	343;375;343;375	ENSP00000381128:L343M;ENSP00000381129:L375M;ENSP00000264764:L343M;ENSP00000427445:L375M	ENSP00000264764:L343M	L	+	1	2	GRK4	3000788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.647000	0.37260	0.606000	0.29965	0.643000	0.83706	CTG		TCGA-HZ-A77Q-01A-11D-A36O-08	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	0	0	0	8	424	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	0.989104	8	420	0	99	2		0	0	0	0	99	2	-7.355640	1	0	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.160000	0.070000	0.300000	0.160000	0.178505	0.160000	0	1.100000e-01	2.300000e-01
KLHL5	51088	broad.mit.edu	37	4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000504108.1	+	1	434	c.151C>A	c.(151-153)Cgt>Agt	p.R51S	KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261425.3_Missense_Mutation_p.R5S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5			29					GTCTGGTTCTCGTAAAGAGTT	0.433000																								0							SO:0001583	missense			ENST00000504108.1	0	1	hg19	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761994	0.69763	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	T;T;T;T;T	0.78364	-0.82;-0.88;-0.8;-0.82;-1.17	5.2	5.2	0.72013	.	0.086461	0.45867	D	0.000335	D	0.82724	0.5099	L	0.29908	0.895	0.58432	D	0.999997	D;P;D	0.63046	0.978;0.931;0.992	D;B;D	0.70487	0.969;0.391;0.969	D	0.84906	0.0845	10	0.87932	D	0	.	19.0941	0.93242	0.0:1.0:0.0:0.0	.	51;51;51	F8WAE7;Q96PQ7;Q96PQ7-2	.;KLHL5_HUMAN;.	S	85;5;51;51;51;51	ENSP00000261425:R5S;ENSP00000423897:R51S;ENSP00000352716:R51S;ENSP00000371355:R51S;ENSP00000261426:R51S	ENSP00000261425:R5S	R	+	1	0	KLHL5	38740680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.883000	0.56168	2.578000	0.87016	0.650000	0.86243	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1	0	0	0	10	717	0	208	0	6.468438e-03	0	8	0	208	2		0	0	0	0	0	2	1	0.996631	11	704	0	206	2		0	0	0	0	208	2	-1.977773	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.120000	0.050000	0.210000	0.120000	0.130298	0.120000	0	8.000000e-02	1.700000e-01
GABRA2	2555	broad.mit.edu	37	4	46305547	46305547	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000356504.1_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2			56				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGACAGTCATGATGCAAGGCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000510861.1	1	1	hg19	CCDS3471.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2	1	0	1	51	358	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	51	349	0	86	2		0	0	0	0	86	2	-19.840030	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.990000	0.820000	1.000000	1.000000	0.978450	0.990000	1	9.400000e-01	1
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1			11					TAGCGCTGACGATCTGGCAGG	0.488000													Colon(15;457 478 29696 43408 47165)											0							SO:0001583	missense			ENST00000307746.4	0	1	hg19	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.983|6.983	0.551462|0.551462	0.13374|0.13374	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000506508	T|.	0.28454|.	1.61|.	4.4|4.4	1.35|1.35	0.21983|0.21983	.|.	2.772270|.	0.00864|.	N|.	0.001945|.	T|.	0.11793|.	0.0287|.	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.25609|.	0.13|.	B|.	0.19946|.	0.027|.	T|.	0.25537|.	-1.0129|.	10|.	0.21540|.	T|.	0.41|.	0.151|0.151	1.9715|1.9715	0.03407|0.03407	0.1191:0.202:0.4717:0.2072|0.1191:0.202:0.4717:0.2072	.|.	134|.	Q9NRR1|.	CYTL1_HUMAN|.	S|X	134|73	ENSP00000303550:R134S|.	ENSP00000303550:R134S|.	R|S	-|-	1|2	0|0	CYTL1|CYTL1	5067790|5067790	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.027000|0.027000	0.11550|0.11550	0.318000|0.318000	0.19504|0.19504	0.270000|0.270000	0.21984|0.21984	0.511000|0.511000	0.50034|0.50034	CGT|TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	0	0	0	9	448	0	90	0	1.271624e-01	0	28	0	90	2		0	0	0	0	0	2	1	0.993838	9	440	0	88	2		0	0	0	0	90	2	-3.130563	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.170000	0.080000	0.310000	0.170000	0.187617	0.170000	0	1.200000e-01	2.400000e-01
EXOC1	55763	broad.mit.edu	37	4	56744167	56744167	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1			35	Glioma(25;0.08)|all_neural(26;0.101)				AGATTTGCTCCGATATGCCAA	0.393000																								0							SO:0001819	synonymous_variant			ENST00000381295.2	0	1	hg19	CCDS3502.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	0	0	0	9	427	0	118	0	1.687800e-01	0	32	0	118	2		0	0	0	0	0	2	1	0.994016	8	423	0	118	2		0	0	0	0	118	2	-2.755615	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.180000	0.080000	0.320000	0.180000	0.196542	0.180000	0	1.300000e-01	2.500000e-01
EPHA5	2044	broad.mit.edu	37	4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					TGCGTGAATCCAATAAATTCA	0.308000										TSP Lung(17;0.13)														0							SO:0001583	missense			ENST00000273854.3	0	1	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704062	0.68615	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.52	4.45	0.53987	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.43747	D	0.000538	T	0.32346	0.0826	M	0.86502	2.82	0.46356	D	0.999002	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.999;1.0	T	0.07481	-1.0770	10	0.87932	D	0	.	13.0437	0.58915	0.0:0.8901:0.0:0.1099	.	64;64;64;64	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	F	64	ENSP00000273854:L64F;ENSP00000389208:L64F;ENSP00000346899:L64F;ENSP00000427638:L64F	ENSP00000273854:L64F	L	-	3	2	EPHA5	66191730	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.486000	0.53215	2.753000	0.94483	0.467000	0.42956	TTG		TCGA-HZ-A77Q-01A-11D-A36O-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	0	0	8	318	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	0.988914	8	313	0	65	2		0	0	0	0	65	2	-3.072403	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.220000	0.100000	0.390000	0.210000	0.235591	0.220000	0	1.500000e-01	3.100000e-01
STAP1	26228	broad.mit.edu	37	4	68436855	68436855	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1			12					TCTTTTATACCGACAAAAAGA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000265404.2	0	1	hg19	CCDS3515.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	0	0	0	12	843	0	161	0	1.226381e-02	0	11	0	161	2		0	0	0	0	0	2	0	0.161993	12	824	1	160	18		0	0	0	0	161	2	-1.698856	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.120000	0.060000	0.200000	0.120000	0.131081	0.120000	0	8.000000e-02	1.700000e-01
SLC4A4	8671	broad.mit.edu	37	4	72319302	72319302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000264485.5	+	12	1530	c.1413G>T	c.(1411-1413)tcG>tcT	p.S471S	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000340595.3_Silent_p.S427S|SLC4A4_ENST00000425175.1_Silent_p.S471S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4			58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)	Sodium bicarbonate(DB01390)	AAGCTCTTTCGGCAATTCTCT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000264485.5	0	1	hg19	CCDS43236.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	0	0	15	717	0	181	0	9.731872e-03	0	7	0	181	2		0	0	0	0	0	2	1	0.999849	11	707	0	179	2		0	0	0	0	181	2	-2.128214	0	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.170000	0.100000	0.280000	0.180000	0.188244	0.170000	0	1.300000e-01	2.300000e-01
AFF1	4299	broad.mit.edu	37	4	87968161	87968161	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000395146.4_Silent_p.C158C|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1			3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)			CCAAAAGCTGCGGCCCACCGG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000307808.6	0	1	hg19	CCDS3616.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	0	0	0	5	282	1	72	0	2.143617e-02	0	26	1	72	3		0	0	0	0	0	2	0	0.026613	5	277	1	72	14		0	0	0	1	72	2	-2.718037	1	1	121412	3	36	1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.160000	0.050000	0.330000	0.150000	0.178003	0.160000	0	1.000000e-01	2.500000e-01
KLHL8	57563	broad.mit.edu	37	4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8			17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)			AACAAGCTCCCACCTGAAAAG	0.398000																								0							SO:0001583	missense			ENST00000273963.5	0	1	hg19	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081410	0.94050	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18	5.7	5.7	0.88788	Galactose oxidase, beta-propeller (1);	0.061501	0.64402	D	0.000001	D	0.98899	0.9627	H	0.98178	4.165	0.80722	D	1	P;D;D	0.65815	0.896;0.986;0.995	P;P;D	0.67548	0.673;0.907;0.952	D	0.99437	1.0937	10	0.87932	D	0	.	18.0017	0.89199	0.0:1.0:0.0:0.0	.	398;505;581	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	L	581;505;398;230;581	ENSP00000273963:W581L;ENSP00000426451:W505L;ENSP00000408854:W398L;ENSP00000439514:W230L;ENSP00000424131:W581L	ENSP00000273963:W581L	W	-	2	0	KLHL8	88303816	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.476000	0.81055	2.693000	0.91896	0.467000	0.42956	TGG		TCGA-HZ-A77Q-01A-11D-A36O-08	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1	0	0	0	9	305	1	82	0	6.486426e-02	0	13	1	82	2		0	0	0	0	0	2	1	0.993877	9	300	0	79	2		0	0	0	1	82	2	-2.551533	1	1	0	0		1	0	1	1	2.025548	0	0.230000	1.890000	0.228225	0.250000	0.120000	0.440000	0.250000	0.271600	0.250000	0	1.800000e-01	3.500000e-01
FBN2	2201	broad.mit.edu	37	5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		CTGCATTTTCGTCATTCTCCC	0.542000																								0							SO:0001583	missense			ENST00000508053.1	1	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892566	0.52121	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.95412	-3.7;-3.7;-3.7	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.176842	0.36303	N	0.002669	D	0.97586	0.9209	M	0.86502	2.82	0.42420	D	0.992637	D;D	0.71674	0.998;0.984	P;P	0.60345	0.873;0.739	D	0.98218	1.0476	10	0.66056	D	0.02	.	18.389	0.90475	0.0:0.0:1.0:0.0	.	351;384	D6RJI3;P35556	.;FBN2_HUMAN	M	384;384;351	ENSP00000262464:T384M;ENSP00000424571:T384M;ENSP00000425596:T351M	ENSP00000262464:T384M	T	-	2	0	FBN2	127758794	1.000000	0.71417	0.959000	0.39883	0.816000	0.46133	5.699000	0.68310	2.750000	0.94351	0.655000	0.94253	ACG		TCGA-HZ-A77Q-01A-11D-A36O-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	1	23	165	0	41	0	1.636126e-02	0	2	0	41	2		0	0	0	0	0	2	1	0.999999	23	160	0	41	2		0	0	0	0	41	2	-20.000000	1	1	121412	1	27	1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.990000	0.700000	1.000000	1.000000	0.954747	0.990000	1	8.700000e-01	1
ACSL6	23305	broad.mit.edu	37	5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379240.1	-	7	843	c.690C>A	c.(688-690)ttC>ttA	p.F230L	ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379264.2_Missense_Mutation_p.F255L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6			35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		GGGCTTCTTCGAATGGGTCCA	0.562000																								0							SO:0001583	missense			ENST00000379240.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	g	7.687	0.690340	0.15039	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.92	-11.8	0.00035	AMP-dependent synthetase/ligase (1);	0.095334	0.85682	D	0.000000	T	0.20536	0.0494	N	0.17312	0.475	0.30886	N	0.730933	B;B;B;B;B;B;B	0.22909	0.063;0.005;0.007;0.077;0.005;0.005;0.005	B;B;B;B;B;B;B	0.35353	0.127;0.014;0.015;0.201;0.009;0.014;0.014	T	0.40001	-0.9586	10	0.19147	T	0.46	.	18.3368	0.90291	0.7201:0.0:0.2185:0.0614	.	230;245;220;230;195;255;255	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	L	230;255;245;195;195;255;241;230;139;230;210;230;195	ENSP00000368551:F230L;ENSP00000368566:F255L;ENSP00000368574:F245L;ENSP00000349608:F195L;ENSP00000368557:F195L;ENSP00000296869:F255L;ENSP00000368548:F241L;ENSP00000368546:F230L;ENSP00000445154:F139L;ENSP00000368542:F230L;ENSP00000413329:F210L;ENSP00000442124:F230L;ENSP00000397507:F195L	ENSP00000296869:F255L	F	-	3	2	ACSL6	131351706	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.418000	0.02462	-3.672000	0.00123	-3.369000	0.00041	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	0	0	0	13	878	0	263		0	0	0	0	263	2		0	0	0	0	0	2	1	0.999474	12	864	0	262	2		0	0	0	0	263	2	-2.222872	0	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.120000	0.060000	0.230000	0.120000	0.144591	0.120000	0	9.000000e-02	1.700000e-01
ZCCHC10	54819	broad.mit.edu	37	5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	rs143508297	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000509437.1	-	1	35	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000324170.3_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10			1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		TGTCTCCGGGCTATTAGCCGA	0.642000																								0							SO:0001583	missense			ENST00000509437.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.73	2.919083	0.52546	.	.	ENSG00000155329	ENST00000324170;ENST00000355372;ENST00000509437;ENST00000513848;ENST00000513541;ENST00000509008;ENST00000504170	.	.	.	4.84	4.84	0.62591	.	0.059049	0.64402	D	0.000003	T	0.70159	0.3192	.	.	.	0.31611	N	0.651506	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.73708	0.981;0.956;0.981	T	0.73600	-0.3931	8	0.51188	T	0.08	.	15.1619	0.72791	0.0:1.0:0.0:0.0	.	10;10;10	G3XAM1;Q8TBK6;Q8TBK6-2	.;ZCH10_HUMAN;.	T	10	.	ENSP00000324274:A10T	A	-	1	0	ZCCHC10	132390101	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	4.062000	0.57492	2.683000	0.91414	0.591000	0.81541	GCC		TCGA-HZ-A77Q-01A-11D-A36O-08	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	0	0	1	21	178	1	55	1	5.938265e-01	6	42	1	55	5		0	0	0	0	0	2	1	0.999998	21	176	0	55	2		0	0	0	1	55	2	-6.945106	1	1	121382	16	45	1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.920000	0.590000	1.000000	1.000000	0.889985	0.920000	1	7.400000e-01	1
FAM13B	51306	broad.mit.edu	37	5	137278825	137278825	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000425075.2_Silent_p.I661I|FAM13B_ENST00000420893.2_Silent_p.I757I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B			11					GGATTACCTTGATTTCTTCAA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000033079.3	0	1	hg19	CCDS4195.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1	0	0	0	8	366	0	68	0	1.564346e-01	0	28	0	68	2		0	0	0	0	0	2	1	0.988836	8	360	0	67	2		0	0	0	0	68	2	-7.866285	1	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.190000	0.080000	0.380000	0.180000	0.214545	0.190000	0	1.300000e-01	2.800000e-01
FAT2	2196	broad.mit.edu	37	5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CCCCTTTTTGGGGTGAATGGT	0.562000																								0							SO:0001583	missense			ENST00000261800.5	0	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953301	0.92660	.	.	ENSG00000086570	ENST00000261800	T	0.55234	0.53	5.73	5.73	0.89815	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.73806	0.3634	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74757	-0.3557	10	0.66056	D	0.02	.	19.9191	0.97079	0.0:0.0:1.0:0.0	.	3373;564	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	H	3373	ENSP00000261800:P3373H	ENSP00000261800:P3373H	P	-	2	0	FAT2	150887796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.349000	0.97066	2.707000	0.92482	0.643000	0.83706	CCC		TCGA-HZ-A77Q-01A-11D-A36O-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	0	9	345	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	0.993827	9	338	0	105	2		0	0	0	0	105	2	-2.382945	0	1	121412	3	34	1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.230000	0.110000	0.430000	0.220000	0.249955	0.230000	0	1.600000e-01	3.200000e-01
FAM114A2	10827	broad.mit.edu	37	5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2			18					TGGAATAGTTCAATTGAGCAG	0.443000																								0							SO:0001587	stop_gained			ENST00000351797.4	0	1	hg19	CCDS4323.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870452	0.97901	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-19.3981	19.2161	0.93778	0.0:1.0:0.0:0.0	.	.	.	.	X	391;391;391;321	.	ENSP00000341597:E391X	E	-	1	0	FAM114A2	153362089	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.954000	0.70298	2.834000	0.97654	0.655000	0.94253	GAA		TCGA-HZ-A77Q-01A-11D-A36O-08	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252455.1	0	0	0	9	494	0	143	0	1.755010e-01	0	38	0	143	2		0	0	0	0	0	2	1	0.993519	9	481	0	142	2		0	0	0	0	143	2	-2.745085	1	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.160000	0.070000	0.310000	0.160000	0.179567	0.160000	0	1.100000e-01	2.300000e-01
NSD1	64324	broad.mit.edu	37	5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000347982.4_Splice_Site_p.S10S|NSD1_ENST00000354179.4_Splice_Site_p.S10S|NSD1_ENST00000511258.1_Splice_Site_p.S10S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1			96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)		CAGCCCTTTCGGTAATGGTCA	0.448000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)					Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0							SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ENST00000439151.2	0	1	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.712868	0.48517	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.98075	-4.08;-4.7	5.23	2.44	0.29823	.	0.132495	0.34802	N	0.003666	D	0.95452	0.8523	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.64776	0.929;0.85;0.84	D	0.93176	0.6570	10	0.41790	T	0.15	.	9.6226	0.39730	0.0744:0.2682:0.6574:0.0	.	33;33;33	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	C	33	ENSP00000395929:G33C;ENSP00000354310:G33C	ENSP00000354310:G33C	G	+	1	0	NSD1	176494807	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.600000	0.67599	0.339000	0.23719	0.555000	0.69702	GGT		TCGA-HZ-A77Q-01A-11D-A36O-08	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	0	0	14	577	0	151	0	3.722014e-02	0	12	0	151	2		0	0	0	0	0	2	1	0.999713	13	564	0	150	2		0	0	0	0	151	2	-2.314746	0	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.210000	0.110000	0.360000	0.200000	0.226877	0.210000	0	1.500000e-01	2.800000e-01
RUFY1	80230	broad.mit.edu	37	5	179016622	179016622	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:179016622C>A	ENST00000319449.4	+	9	1114	c.1102C>A	c.(1102-1104)Cga>Aga	p.R368R	RUFY1_ENST00000393438.2_Silent_p.R260R|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Silent_p.R260R	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1			26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TGAATTAATTCGAGAAAGAAG	0.388000										HNSCC(44;0.11)														0							SO:0001819	synonymous_variant			ENST00000319449.4	1	0	hg19	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321386	0.23994	.	.	ENSG00000176783	ENST00000508609	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	T	0.75384	0.3842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73597	-0.3932	4	.	.	.	-12.448	19.3849	0.94553	0.0:1.0:0.0:0.0	.	.	.	.	L	156	.	.	F	+	3	2	RUFY1	178949228	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	4.156000	0.58138	2.581000	0.87130	0.549000	0.68633	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	1	0	0	16	465	0	94	0	8.331932e-01	0	97	0	94	2		0	0	0	0	0	2	1	0.999927	16	459	0	94	2		0	0	0	0	94	2	-2.706646	1	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.290000	0.170000	0.480000	0.290000	0.311463	0.290000	0	2.200000e-01	3.800000e-01
MRPS36	92259	broad.mit.edu	37	5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36			7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)			ACAGAAGGAAACTTGTGTCTC	0.373000																								0							SO:0001583	missense			ENST00000256441.4	1	1	hg19	CCDS34174.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910653	0.52439	.	.	ENSG00000134056	ENST00000256441;ENST00000512880	.	.	.	5.76	4.59	0.56863	.	0.054165	0.64402	D	0.000001	T	0.64994	0.2649	L	0.39898	1.24	0.44136	D	0.99692	D	0.76494	0.999	D	0.83275	0.996	T	0.65755	-0.6091	9	0.72032	D	0.01	-20.7389	8.3323	0.32193	0.8452:0.0:0.1548:0.0	.	87	P82909	RT36_HUMAN	N	87;22	.	ENSP00000256441:K87N	K	+	3	2	MRPS36	68559937	0.989000	0.36119	0.991000	0.47740	0.993000	0.82548	2.537000	0.45702	1.005000	0.39183	0.377000	0.23210	AAA		TCGA-HZ-A77Q-01A-11D-A36O-08	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368940.1	1	0	1	63	514	0	133	1	9.999839e-01	28	102	0	133	2		0	0	0	0	0	2	1	1.000000	63	509	0	129	2		0	0	0	0	133	2	-19.956460	1	1	0	0		1	1	2	3	2.028763	0	0.230000	1.890000	0.231767	0.950000	0.740000	1.000000	1.000000	0.930945	0.950000	1	8.400000e-01	1
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000437473.2	-	2	436	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000504921.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	p.Q7E(3)		40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)			CTCGTAATCTGAATCTTTTTT	0.343000										HNSCC(66;0.2)														3	Substitution - Missense(3)						SO:0001583	missense			ENST00000437473.2	0	1	hg19	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262694	0.80358	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796;ENST00000513252;ENST00000506716;ENST00000507984;ENST00000502983;ENST00000508610;ENST00000502831;ENST00000503075;ENST00000509373	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.27	5.12	5.12	0.69794	Transcription factor, MADS-box (5);	0.051449	0.85682	D	0.000000	D	0.82291	0.5005	N	0.11892	0.195	0.80722	D	1	B;D;P;D	0.89917	0.166;1.0;0.909;0.999	B;D;D;D	0.83275	0.149;0.996;0.91;0.993	D	0.86237	0.1641	10	0.87932	D	0	-0.0224	18.9236	0.92536	0.0:0.0:1.0:0.0	.	7;7;7;7	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	K	7	ENSP00000340874:Q7K;ENSP00000389610:Q7K;ENSP00000421925:Q7K;ENSP00000426665:Q7K;ENSP00000396219:Q7K;ENSP00000422390:Q7K;ENSP00000425636:Q7K;ENSP00000423597:Q7K;ENSP00000424606:Q7K;ENSP00000441153:Q7K;ENSP00000423826:Q7K;ENSP00000423656:Q7K;ENSP00000424331:Q7K;ENSP00000427163:Q7K;ENSP00000426442:Q7K;ENSP00000427286:Q7K;ENSP00000426465:Q7K;ENSP00000427309:Q7K	ENSP00000340874:Q7K	Q	-	1	0	MEF2C	88155343	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.384000	0.97219	2.543000	0.85770	0.591000	0.81541	CAG		TCGA-HZ-A77Q-01A-11D-A36O-08	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	0	0	0	22	1140	0	281	0	1.530290e-01	0	35	0	281	2		0	0	0	0	0	2	1	0.999998	21	1118	0	275	2		0	0	0	0	281	2	-2.254158	0	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.160000	0.100000	0.260000	0.160000	0.179839	0.160000	0	1.300000e-01	2.100000e-01
LYSMD3	116068	broad.mit.edu	37	5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3			7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)			TCCTGTTGTTCGGAAGAGTAT	0.373000																								0							SO:0001587	stop_gained			ENST00000315948.6	0	1	hg19	CCDS43338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.42|16.42	3.119638|3.119638	0.56613|0.56613	.|.	.|.	ENSG00000176018;ENSG00000259141|ENSG00000176018	ENST00000315948;ENST00000554351|ENST00000509384	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.400265|.	0.29537|.	N|.	0.011876|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.54706	.|0.759	.|T	.|0.78585	.|-0.2147	.|7	0.14656|0.87932	T|D	0.56|0	-10.0408|-10.0408	19.8807|19.8807	0.96899|0.96899	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|120	.|Q7Z3D4-2	.|.	X|L	140|120	.|.	ENSP00000314518:E140X|ENSP00000427683:R120L	E|R	-|-	1|2	0|0	AC027323.1;LYSMD3|LYSMD3	89850895|89850895	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.226000|0.226000	0.24999|0.24999	6.891000|6.891000	0.75639|0.75639	2.692000|2.692000	0.91855|0.91855	0.591000|0.591000	0.81541|0.81541	GAA|CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	0	0	0	15	488	0	128	0	1.327429e-01	0	20	0	128	2		0	0	0	0	0	2	1	0.999854	12	482	0	127	2		0	0	0	0	128	2	-2.649822	1	1	0	0		1	1	2	3	2.029192	0	0.230000	1.890000	0.231767	0.260000	0.150000	0.440000	0.260000	0.281431	0.260000	0	2.000000e-01	3.400000e-01
SEMA5A	9037	broad.mit.edu	37	5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A			81					TAGCCAGGCCGAGCGCGAGTT	0.587000																								0							SO:0001587	stop_gained			ENST00000382496.5	0	1	hg19	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	45	12.020084	0.99627	.	.	ENSG00000112902	ENST00000382496	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7642	0.85520	0.0:0.0:1.0:0.0	.	.	.	.	X	343	.	ENSP00000371936:S343X	S	-	2	0	SEMA5A	9250320	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.574000	0.98184	2.621000	0.88768	0.603000	0.83216	TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2	0	0	0	13	571	0	183	0	1.929940e-02	0	9	0	183	2		0	0	0	0	0	2	1	0.999471	13	559	0	180	2		0	0	0	0	183	2	-2.577564	1	1	0	0		1	1	2	3	2.028763	0	0.230000	1.890000	0.231767	0.190000	0.100000	0.340000	0.200000	0.214812	0.190000	0	1.400000e-01	2.600000e-01
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9			18		all_cancers(87;0.122)|all_epithelial(87;0.179)			AAAAATCTTCGAATTCCTTTT	0.378000																								0							SO:0001583	missense			ENST00000316316.6	0	1	hg19	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454336	0.84209	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.06142	3.73;3.34	5.81	4.65	0.58169	.	.	.	.	.	T	0.16085	0.0387	M	0.87682	2.9	0.52099	D	0.999949	D	0.89917	1.0	D	0.70016	0.967	T	0.02098	-1.1214	9	0.36615	T	0.2	.	11.7956	0.52098	0.9314:0.0:0.0686:0.0	.	288	Q9NXL9-2	.	L	288	ENSP00000314505:F288L;ENSP00000312870:F288L	ENSP00000312870:F288L	F	-	3	2	MCM9	119280465	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.102000	0.57776	1.044000	0.40200	-0.251000	0.11542	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	0	0	0	12	660	0	179	0	3.782048e-03	0	5	0	179	2		0	0	0	0	0	2	1	0.999064	14	654	0	179	2		0	0	0	0	179	2	-2.430632	0	1	0	0		1	0	1	1	1.784241	1	0.230000	1.890000	0.129944	0.130000	0.070000	0.230000	0.140000	0.146949	0.130000	0	1.000000e-01	1.900000e-01
PPIL4	85313	broad.mit.edu	37	6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4			13		Ovarian(120;0.0164)			CTTTGCAACCGACTGGCTAAA	0.333000																								0							SO:0001587	stop_gained			ENST00000253329.2	0	1	hg19	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	36	5.846120	0.97016	.	.	ENSG00000131013	ENST00000253329	.	.	.	5.52	5.52	0.82312	.	0.049439	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.442	0.94824	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000253329:S318X	S	-	2	0	PPIL4	149883918	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.314000	0.96306	2.597000	0.87782	0.555000	0.69702	TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1	0	0	0	9	558	0	130	0	3.019551e-01	0	63	0	130	2		0	0	0	0	0	2	1	0.993484	9	542	0	129	2		0	0	0	0	130	2	-2.267484	0	1	0	0		1	0	1	1	1.784241	1	0.230000	1.890000	0.129944	0.120000	0.050000	0.220000	0.120000	0.133647	0.120000	0	8.000000e-02	1.700000e-01
BTN1A1	696	broad.mit.edu	37	6	26501880	26501880	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1			26					GGACGCCGAGCTGCCCTGTCG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000244513.6	1	1	hg19	CCDS4614.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	1	0	0	13	252	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.999536	13	249	0	78	2		0	0	0	0	78	2	-15.018640	1	1	0	0		1	0	0	0	1.909098	0	0.230000	1.890000	0.181025	0.400000	0.220000	0.640000	0.400000	0.421394	0.400000	0	3.000000e-01	5.200000e-01
SCAND3	0	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1						71					TTGGCATCTTGAACTAACTTC	0.338000																								0							SO:0001587	stop_gained			ENST00000452236.2	0	1	hg19	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0	0	0	9	549	1	137		0	0	0	1	137	2		0	0	0	0	0	2	0	0.143848	9	543	1	136	15		0	0	0	1	137	2	-2.782501	1	1	0	0		1	0	0	0	1.909098	0	0.230000	1.890000	0.181025	0.130000	0.060000	0.240000	0.130000	0.144812	0.130000	0	9.000000e-02	1.900000e-01
C6orf136	221545	broad.mit.edu	37	6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000376473.5	+	4	734	c.575G>T	c.(574-576)tGg>tTg	p.W192L	C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L|C6orf136_ENST00000293604.6_Missense_Mutation_p.W373L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136			10					GGCCGGACATGGTACATTCTT	0.493000																								0							SO:0001583	missense			ENST00000376473.5	0	1	hg19	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207852	0.22205	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	4.72	0.6	0.17524	.	0.571491	0.18568	N	0.137403	T	0.07143	0.0181	N	0.08118	0	0.25418	N	0.9883	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.002	T	0.41466	-0.9507	9	0.11485	T	0.65	-1.7055	13.3791	0.60757	0.0:0.0:0.2885:0.7115	.	58;373;192	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	L	373;192;58;310;49;14;5	.	ENSP00000293604:W373L	W	+	2	0	C6orf136	30727033	0.987000	0.35691	0.981000	0.43875	0.980000	0.70556	0.475000	0.22164	-0.006000	0.14370	-0.152000	0.13540	TGG		TCGA-HZ-A77Q-01A-11D-A36O-08	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	0	0	0	17	1624	1	572	0	1.695416e-02	0	18	1	572	2		0	0	0	0	0	2	1	0.859159	17	1600	1	568	12		0	0	0	1	572	2	-1.929629	0	1	0	0		1	0	1	1	1.889021	1	0.230000	1.890000	0.167792	0.080000	0.040000	0.130000	0.080000	0.087881	0.080000	0	6.000000e-02	1.100000e-01
TNXB	7148	broad.mit.edu	37	6	32046907	32046907	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB			8					GGCCTCCCACGGTGACCTCAC	0.687000																								0							SO:0001819	synonymous_variant			ENST00000375244.3	0	1	hg19																																																																																					TCGA-HZ-A77Q-01A-11D-A36O-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	0	0	10	455	0	155	0	4.985729e-02	0	15	0	155	2		0	0	0	0	0	2	1	0.996665	8	449	0	152	2		0	0	0	0	155	2	-2.173676	0	1	0	0		1	0	1	1	1.889021	1	0.230000	1.890000	0.167792	0.170000	0.080000	0.300000	0.170000	0.187496	0.170000	0	1.200000e-01	2.400000e-01
GRM4	2914	broad.mit.edu	37	6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000538487.2	-	9	2730	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000609222.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.2_Missense_Mutation_p.L594F|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.L763F|GRM4_ENST00000455714.2_Missense_Mutation_p.L623F	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4			48					GTGACCATGAGCAGCATGCTG	0.602000																								0							SO:0001583	missense			ENST00000538487.2	1	1	hg19	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976898	0.74360	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	4.47	3.6	0.41247	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;1.0	D;D;D;D;D	0.85130	0.989;0.997;0.997;0.959;0.993	D	0.99174	1.0865	10	0.87932	D	0	.	12.6781	0.56906	0.0805:0.0:0.9195:0.0	.	716;594;623;763;630	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	F	763;647;455;630;594;763;623	ENSP00000363296:L763F;ENSP00000363292:L647F;ENSP00000445533:L455F;ENSP00000437925:L630F;ENSP00000437730:L594F;ENSP00000440556:L763F;ENSP00000398456:L623F	ENSP00000363292:L647F	L	-	1	0	GRM4	34111578	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.728000	0.84847	1.087000	0.41251	0.455000	0.32223	CTC		TCGA-HZ-A77Q-01A-11D-A36O-08	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2	1	0	1	18	162	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.999984	18	159	0	63	2		0	0	0	0	64	2	-20.000000	1	1	0	0		1	0	0	0	1.894629	1	0.230000	1.890000	0.174971	0.800000	0.500000	1.000000	1.000000	0.807186	0.800000	0	6.400000e-01	9.900000e-01
PHF3	23469	broad.mit.edu	37	6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A	rs149513419		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3			75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		GAAGAAAATTCAGTGAGATCT	0.383000													GBM(135;136 1820 29512 34071 46235)											0							SO:0001587	stop_gained			ENST00000262043.3	0	1	hg19	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	37	6.065655	0.97251	.	.	ENSG00000118482	ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387;ENST00000514822	.	.	.	5.98	5.98	0.97165	.	0.000000	0.32608	N	0.005877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.529	20.452	0.99131	0.0:1.0:0.0:0.0	.	.	.	.	X	34;122;75;122;122;52	.	ENSP00000262043:S122X	S	+	2	0	PHF3	64447980	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.034000	0.57289	2.838000	0.97847	0.591000	0.81541	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0	0	0	15	493	0	126	0	1.005594e-01	0	17	0	126	2		0	0	0	0	0	2	1	0.999852	15	482	0	124	2		0	0	0	0	126	2	-2.766770	1	1	0	0		1	0	0	0	1.894629	1	0.230000	1.890000	0.174971	0.240000	0.130000	0.380000	0.240000	0.252250	0.240000	0	1.800000e-01	3.100000e-01
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000370398.1	+	2	532	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000342056.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5			57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		Ezogabine(DB04953)	TTGGTTGCTTGATTTTGTCAG	0.363000													GBM(142;1375 1859 14391 23261 44706)											0							SO:0001583	missense			ENST00000370398.1	0	1	hg19	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237974	0.79800	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66;-4.66	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	D	0.98563	0.9520	M	0.73962	2.25	0.50813	D	0.999893	P;D;D;D;D;D	0.89917	0.86;1.0;0.989;0.994;1.0;1.0	P;D;P;D;D;D	0.85130	0.743;0.997;0.824;0.915;0.993;0.994	D	0.99264	1.0891	10	0.62326	D	0.03	.	18.7003	0.91618	0.0:0.0:1.0:0.0	.	141;141;141;141;141;141	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	F	141	ENSP00000345055:L141F;ENSP00000347326:L141F;ENSP00000359425:L141F;ENSP00000359419:L141F;ENSP00000385501:L141F;ENSP00000347853:L141F;ENSP00000384453:L141F;ENSP00000409861:L141F	ENSP00000345055:L141F	L	+	3	2	KCNQ5	73770376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.835000	0.75344	2.769000	0.95229	0.655000	0.94253	TTG		TCGA-HZ-A77Q-01A-11D-A36O-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	0	0	0	8	388	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	0.988976	8	383	0	99	2		0	0	0	0	99	2	-3.091924	1	1	0	0		1	0	1	1	1.784241	1	0.230000	1.890000	0.129944	0.150000	0.070000	0.290000	0.150000	0.171081	0.150000	0	1.100000e-01	2.200000e-01
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000541192.1_3'UTR	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6			27		all_hematologic(105;0.189)			AGAAGAAATCCGAAACATAAT	0.368000																								0							SO:0001819	synonymous_variant			ENST00000447266.2	0	1	hg19	CCDS47454.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	0	0	0	9	470	0	129	0	6.157247e-01	0	104	0	129	2		0	0	0	0	0	2	1	0.993792	8	462	0	126	2		0	0	0	0	129	2	-2.259833	0	1	120806	1	35	1	0	1	1	1.784241	1	0.230000	1.890000	0.129944	0.140000	0.070000	0.260000	0.140000	0.157754	0.140000	0	1.000000e-01	2.000000e-01
TTK	7272	broad.mit.edu	37	6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000369798.2	+	4	575	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000509894.1_Nonsense_Mutation_p.S155*|TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase			53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)			TTTGAACTGTCACAAGGTAAT	0.303000																								0							SO:0001587	stop_gained			ENST00000369798.2	0	1	hg19	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	43	10.343241	0.99387	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798;ENST00000504040	.	.	.	6.16	6.16	0.99307	.	0.060757	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000230510:S155X	S	+	2	0	TTK	80774923	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.998000	0.63927	2.937000	0.99478	0.650000	0.86243	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	0	0	0	9	406	0	105	0	1.857075e-03	0	3	0	105	2		0	0	0	0	0	2	1	0.993942	9	400	0	104	2		0	0	0	0	105	2	-3.415102	1	1	0	0		1	0	1	1	1.784241	1	0.230000	1.890000	0.129944	0.170000	0.080000	0.300000	0.160000	0.181571	0.170000	0	1.200000e-01	2.300000e-01
ASB15	142685	broad.mit.edu	37	7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15			12					GAGCTATGACGATGAGAGGAA	0.453000																								0							SO:0001583	missense			ENST00000451558.1	1	1	hg19	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286594	0.95517	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.11789	0.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12477	-1.0546	10	0.26408	T	0.33	-59.0637	20.8794	0.99867	0.0:0.0:1.0:0.0	.	348	Q8WXK1	ASB15_HUMAN	N	348;348;348;348;137;348	ENSP00000397655:D348N;ENSP00000390963:D348N;ENSP00000416433:D348N;ENSP00000438643:D348N;ENSP00000275699:D348N	ENSP00000275699:D348N	D	+	1	0	ASB15	123056326	1.000000	0.71417	0.606000	0.28943	0.963000	0.63663	9.461000	0.97646	2.941000	0.99782	0.655000	0.94253	GAT		TCGA-HZ-A77Q-01A-11D-A36O-08	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	1	72	525	0	162		0	0	0	0	162	2		0	0	0	0	0	2	1	1.000000	70	517	0	161	2		0	0	0	0	162	2	-20.000000	1	0	121412	2	35	1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.990000	0.820000	1.000000	1.000000	0.974650	0.990000	1	9.200000e-01	1
MKLN1	4289	broad.mit.edu	37	7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs			28	Melanoma(18;0.162)				GTTAGAAATTCATTCTGGATT	0.348000																								0							SO:0001587	stop_gained			ENST00000352689.6	0	1	hg19	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	C	41	9.090263	0.99062	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3791	19.3216	0.94243	0.0:1.0:0.0:0.0	.	.	.	.	X	455;547;37	.	ENSP00000323527:S547X	S	+	2	0	MKLN1	130798630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.818000	0.97014	0.591000	0.81541	TCA		TCGA-HZ-A77Q-01A-11D-A36O-08	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	0	0	0	11	587	0	137	0	8.540197e-02	0	24	0	137	2		0	0	0	0	0	2	1	0.998123	11	573	0	134	2		0	0	0	0	137	2	-2.944517	1	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.160000	0.080000	0.270000	0.160000	0.171922	0.160000	0	1.100000e-01	2.200000e-01
TAS2R4	50832	broad.mit.edu	37	7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4			7	Melanoma(164;0.0171)				CTGCTGAAGCGGAATATCTCC	0.478000																								0							SO:0001583	missense			ENST00000247881.2	0	1	hg19	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.974173	0.34848	.	.	ENSG00000127364	ENST00000247881	T	0.00711	5.8	5.52	4.64	0.57946	.	0.625698	0.16289	N	0.220974	T	0.01800	0.0057	L	0.43554	1.36	0.09310	N	1	P	0.48640	0.913	P	0.56788	0.806	T	0.52533	-0.8563	10	0.41790	T	0.15	.	7.605	0.28097	0.0858:0.1661:0.7482:0.0	.	123	Q9NYW5	TA2R4_HUMAN	L	123	ENSP00000247881:R123L	ENSP00000247881:R123L	R	+	2	0	TAS2R4	141125125	0.003000	0.15002	0.033000	0.17914	0.290000	0.27261	0.174000	0.16743	1.575000	0.49775	0.632000	0.83419	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1	0	0	0	9	675	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	0.993816	10	664	0	150	2		0	0	0	0	150	2	-2.034986	0	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.110000	0.050000	0.210000	0.120000	0.125399	0.110000	0	8.000000e-02	1.600000e-01
OR9A4	130075	broad.mit.edu	37	7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4			22	Melanoma(164;0.0171)				AAATGTTGATGAATTACTCTA	0.373000																								0							SO:0001583	missense			ENST00000548136.1	0	1	hg19	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	6.763	0.509673	0.12883	.	.	ENSG00000258083	ENST00000548136	T	0.17213	2.29	3.33	-1.9	0.07665	.	.	.	.	.	T	0.07413	0.0187	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	9	0.72032	D	0.01	0.4043	4.3789	0.11284	0.4061:0.3203:0.2735:0.0	.	3	Q8NGU2	OR9A4_HUMAN	I	3	ENSP00000448789:M3I	ENSP00000386148:M3I	M	+	3	0	OR9A4	141265153	0.000000	0.05858	0.002000	0.10522	0.749000	0.42624	-0.453000	0.06778	-0.460000	0.07003	0.637000	0.83480	ATG		TCGA-HZ-A77Q-01A-11D-A36O-08	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	0	0	0	10	592	0	150		0	0	0	0	150	2		0	0	0	0	0	2	1	0.996646	10	582	0	148	2		0	0	0	0	150	2	-2.441514	0	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.140000	0.070000	0.250000	0.140000	0.156558	0.140000	0	1.000000e-01	2.000000e-01
TRPV6	55503	broad.mit.edu	37	7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6			42	Melanoma(164;0.059)				CAGTGAGTGTCGCCCATCATG	0.597000																								0							SO:0001583	missense			ENST00000359396.3	0	1	hg19	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048747	0.93740	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.92647	-3.08	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96396	0.9293	10	0.54805	T	0.06	-37.5871	18.5442	0.91040	0.0:1.0:0.0:0.0	.	580	Q9H1D0	TRPV6_HUMAN	Y	580;412	ENSP00000352358:D580Y	ENSP00000310825:D412Y	D	-	1	0	TRPV6	142281373	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.741000	0.84997	2.613000	0.88420	0.655000	0.94253	GAC		TCGA-HZ-A77Q-01A-11D-A36O-08	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	0	0	8	424	0	128	0	0	0	1	0	128	2		0	0	0	0	0	2	1	0.989000	9	418	0	128	2		0	0	0	0	128	2	-2.863188	1	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.160000	0.070000	0.300000	0.160000	0.177866	0.160000	0	1.100000e-01	2.300000e-01
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	p.R118L(1)		18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)			GATGTTATTCGGGAATTAGGC	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000291009.3	0	1	hg19	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	g	15.45	2.837901	0.50951	.	.	ENSG00000159763	ENST00000291009	T	0.14516	2.5	4.78	-4.48	0.03515	.	1.221410	0.05988	N	0.645521	T	0.13286	0.0322	M	0.65975	2.015	0.09310	N	1	B	0.22983	0.078	B	0.20577	0.03	T	0.34925	-0.9809	10	0.51188	T	0.08	.	3.3187	0.07043	0.5027:0.1128:0.2699:0.1146	.	118	P12273	PIP_HUMAN	L	118	ENSP00000291009:R118L	ENSP00000291009:R118L	R	+	2	0	PIP	142546769	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.459000	0.01000	-1.283000	0.02393	-1.746000	0.00682	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	0	0	0	12	694	0	219		0	0	0	0	219	2		0	0	0	0	0	2	1	0.998934	10	674	0	217	2		0	0	0	0	219	2	-1.827624	0	1	121404	1	36	1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.140000	0.070000	0.250000	0.140000	0.157977	0.140000	0	1.000000e-01	2.000000e-01
EPHA1	2041	broad.mit.edu	37	7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1			51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)			AGTTGCCTCTCGAAGGAAGTT	0.567000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000275815.3	0	1	hg19	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234819	0.95207	.	.	ENSG00000146904	ENST00000275815	D	0.83250	-1.7	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000091	D	0.87912	0.6297	L	0.56280	1.765	0.58432	D	0.999999	D	0.63046	0.992	P	0.59948	0.866	D	0.87806	0.2628	10	0.49607	T	0.09	.	18.4787	0.90802	0.0:1.0:0.0:0.0	.	672	P21709	EPHA1_HUMAN	L	672	ENSP00000275815:R672L	ENSP00000275815:R672L	R	-	2	0	EPHA1	142802602	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.820000	0.69250	2.669000	0.90835	0.655000	0.94253	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1	0	0	0	10	1017	0	314	0	1.019526e-02	0	14	0	314	2		0	0	0	0	0	2	0	0.113181	11	999	2	311	17		0	0	0	0	314	2	-2.017855	0	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.080000	0.030000	0.150000	0.080000	0.092114	0.080000	0	5.000000e-02	1.200000e-01
CHPF2	54480	broad.mit.edu	37	7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L|MIR671_ENST00000390183.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2			17					GTTGGGCTCCCTGCTCCTTTC	0.617000																								0							SO:0001583	missense			ENST00000035307.2	1	1	hg19	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548837	0.65311	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16597	2.33;2.33	5.63	5.63	0.86233	.	0.090906	0.64402	D	0.000001	T	0.20577	0.0495	L	0.39898	1.24	0.80722	D	1	P;P	0.47034	0.889;0.879	P;P	0.48677	0.534;0.586	T	0.00728	-1.1591	10	0.29301	T	0.29	-29.2158	12.3421	0.55099	0.266:0.734:0.0:0.0	.	361;353	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	353;361;361	ENSP00000418914:P353L;ENSP00000035307:P361L	ENSP00000035307:P361L	P	+	2	0	CHPF2	150565463	0.997000	0.39634	0.951000	0.38953	0.715000	0.41141	3.589000	0.53972	2.652000	0.90054	0.655000	0.94253	CCT		TCGA-HZ-A77Q-01A-11D-A36O-08	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	1	0	1	36	316	0	94	1	9.998730e-01	18	101	0	94	2		0	0	0	0	0	2	1	1.000000	36	314	0	93	2		0	0	0	0	94	2	-2.690405	1	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.880000	0.630000	1.000000	1.000000	0.875491	0.880000	1	7.500000e-01	1
NEUROD6	63974	broad.mit.edu	37	7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6			32					CCTGTCTCCTGAACTTGACCC	0.498000																								0							SO:0001583	missense			ENST00000297142.3	0	1	hg19	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	1.495	-0.553653	0.03996	.	.	ENSG00000164600	ENST00000297142	D	0.94576	-3.46	5.46	5.46	0.80206	Helix-loop-helix DNA-binding (1);	0.108239	0.64402	D	0.000011	D	0.86070	0.5845	N	0.11064	0.09	0.41174	D	0.98618	B	0.02656	0.0	B	0.01281	0.0	T	0.81263	-0.1012	10	0.06891	T	0.86	-22.1205	14.1906	0.65635	0.0:0.0:0.8505:0.1495	.	94	Q96NK8	NDF6_HUMAN	L	94	ENSP00000297142:F94L	ENSP00000297142:F94L	F	-	3	2	NEUROD6	31345126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.206000	0.51098	2.569000	0.86673	0.650000	0.86243	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	0	0	15	807	0	226		0	0	0	0	226	2		0	0	0	0	0	2	1	0.999856	15	797	0	225	2		0	0	0	0	226	2	-2.375076	0	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.150000	0.080000	0.250000	0.160000	0.167176	0.150000	0	1.200000e-01	2.100000e-01
STARD3NL	83930	broad.mit.edu	37	7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L|STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like			10					ACCTCTTATTCGTAACATTAC	0.373000																								0							SO:0001583	missense			ENST00000009041.7	0	1	hg19	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253884	0.80135	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.17	5.02	0.67125	MENTAL domain (2);	0.042989	0.85682	D	0.000000	T	0.61148	0.2324	L	0.53617	1.68	0.50813	D	0.999893	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.904	T	0.57888	-0.7733	10	0.45353	T	0.12	-8.6394	9.8732	0.41187	0.0:0.1389:0.0:0.8611	.	65;65	C9JKL2;O95772	.;MENTO_HUMAN	L	65;58;65;65;65;65;65	ENSP00000009041:F65L;ENSP00000439436:F58L;ENSP00000394000:F65L;ENSP00000379334:F65L;ENSP00000411933:F65L;ENSP00000395455:F65L;ENSP00000402028:F65L	ENSP00000009041:F65L	F	+	3	2	STARD3NL	38213825	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.598000	0.36740	0.576000	0.29452	-0.254000	0.11334	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0	0	0	10	333	0	75	0	6.433325e-01	0	72	0	75	2		0	0	0	0	0	2	1	0.996755	8	330	0	75	2		0	0	0	0	75	2	-2.900063	1	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.250000	0.130000	0.440000	0.250000	0.272905	0.250000	0	1.800000e-01	3.500000e-01
IKZF1	10320	broad.mit.edu	37	7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	p.?(131)		276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)			ATATTGTGGCCGAAGCTATAA	0.473000			D,T	BCL6	ALL, DLBCL										Rec,Dom	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)						SO:0001587	stop_gained			ENST00000331340.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	39	7.427115	0.98279	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6208	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	121;208;121	.	ENSP00000331614:R208X	R	+	1	2	IKZF1	50422569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	CGA		TCGA-HZ-A77Q-01A-11D-A36O-08	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	1	0	1	19	124	0	28	0	9.549214e-02	0	4	0	28	2		0	0	0	0	0	2	1	0.999994	19	123	0	28	2		0	0	0	0	28	2	-11.149870	1	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.990000	0.720000	1.000000	1.000000	0.967989	0.990000	1	9.100000e-01	1
SUN1	23353	broad.mit.edu	37	7	888057	888057	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000456758.2	+	9	835	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	SUN1_ENST00000389574.3_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_5'Flank|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1			30					TTTAATAGGCGGTGCGTCTTT	0.358000																								0							SO:0001583	missense			ENST00000456758.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.66	3.672109	0.67928	.	.	ENSG00000164828	ENST00000456758;ENST00000429178	T;T	0.42513	0.97;0.97	5.56	4.67	0.58626	.	.	.	.	.	T	0.65943	0.2740	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70479	-0.4860	8	0.56958	D	0.05	.	16.0363	0.80631	0.0:0.1351:0.8649:0.0	.	221	O94901-3	.	C	279;52	ENSP00000388743:G279C;ENSP00000409909:G52C	ENSP00000409909:G52C	G	+	1	0	SUN1	854583	1.000000	0.71417	0.996000	0.52242	0.836000	0.47400	2.856000	0.48341	1.339000	0.45563	0.650000	0.86243	GGT		TCGA-HZ-A77Q-01A-11D-A36O-08	SUN1-204	KNOWN	basic	protein_coding	protein_coding		0	0	0	10	745	0	204	0	1.570294e-01	0	48	0	204	2		0	0	0	0	0	2	1	0.996426	10	724	0	202	2		0	0	0	0	204	2	-1.668794	0	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.110000	0.050000	0.200000	0.120000	0.125061	0.110000	0	8.000000e-02	1.600000e-01
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2			4					TCTATGAACCGGAAAACATCC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000257627.4	0	1	hg19	CCDS5653.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	OCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334188.1	0	0	0	10	496	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	0.996713	9	491	0	125	2		0	0	0	0	127	2	-2.150713	0	1	0	0		1	0	1	1	2.015375	0	0.230000	1.890000	0.225547	0.170000	0.080000	0.300000	0.170000	0.185941	0.170000	0	1.200000e-01	2.400000e-01
VPS13B	157680	broad.mit.edu	37	8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000358544.2	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.D196Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)			193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)		TTTAGCAACTGATTTGGTGCT	0.274000													Colon(161;2205 2542 7338 31318)											0							SO:0001583	missense			ENST00000358544.2	0	1	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352102	0.82132	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83506	-1.16;-0.45;-0.45;-0.16;-1.73	5.32	5.32	0.75619	.	0.058121	0.64402	D	0.000004	D	0.89196	0.6646	L	0.55481	1.735	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.993;0.999;0.98	D;D;D;D;P	0.68039	0.939;0.915;0.911;0.955;0.804	D	0.90092	0.4178	10	0.87932	D	0	.	18.9995	0.92828	0.0:0.0:1.0:0.0	.	196;196;196;196;196	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	196	ENSP00000347281:D196Y;ENSP00000349685:D196Y;ENSP00000351346:D196Y;ENSP00000379318:D196Y;ENSP00000398472:D196Y	ENSP00000347281:D196Y	D	+	1	0	VPS13B	100192507	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.588000	0.98232	2.479000	0.83701	0.555000	0.69702	GAT		TCGA-HZ-A77Q-01A-11D-A36O-08	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	0	0	0	10	319	0	90	0	1.201179e-03	0	2	0	90	2		0	0	0	0	0	2	1	0.996802	10	315	0	88	2		0	0	0	0	90	2	-10.410670	1	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.270000	0.130000	0.460000	0.260000	0.285361	0.270000	0	1.900000e-01	3.700000e-01
RNF19A	25897	broad.mit.edu	37	8	101276930	101276930	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase			30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		CTGGAGACACGATTACAGACA	0.363000																								0							SO:0001819	synonymous_variant			ENST00000519449.1	0	1	hg19	CCDS6286.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	0	0	0	10	550	0	136	0	4.714327e-01	0	83	0	136	2		0	0	0	0	0	2	1	0.996723	9	544	0	135	2		0	0	0	0	136	2	-2.235855	0	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.150000	0.070000	0.270000	0.160000	0.168785	0.150000	0	1.100000e-01	2.200000e-01
EBAG9	9166	broad.mit.edu	37	8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9			10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)		AGGAACAAAACAAAATTGGTG	0.388000																								0							SO:0001583	missense			ENST00000337573.5	1	1	hg19	CCDS6313.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926951	0.52759	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000531677	.	.	.	5.52	1.68	0.24146	.	0.215116	0.40728	N	0.001032	T	0.32071	0.0817	N	0.19112	0.55	0.42409	D	0.992594	B	0.33238	0.403	B	0.22601	0.04	T	0.05971	-1.0853	9	0.31617	T	0.26	-24.8557	12.9693	0.58503	0.0:0.7392:0.0:0.2608	.	206	O00559	RCAS1_HUMAN	K	206;206;251	.	ENSP00000337675:N206K	N	+	3	2	EBAG9	110645940	0.037000	0.19845	0.991000	0.47740	0.958000	0.62258	0.178000	0.16820	0.110000	0.17919	-0.797000	0.03246	AAC		TCGA-HZ-A77Q-01A-11D-A36O-08	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383536.1	1	0	1	42	324	0	99	1	9.832449e-01	10	42	0	99	2		0	0	0	0	0	2	1	1.000000	42	319	0	98	2		0	0	0	0	99	2	-16.289010	1	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.990000	0.730000	1.000000	1.000000	0.944969	0.990000	1	8.500000e-01	1
PHF20L1	51105	broad.mit.edu	37	8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1			15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		GATTGGTGCTCGTTTGGAGGC	0.363000																								0							SO:0001583	missense			ENST00000395386.2	0	1	hg19	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586264	0.86851	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.49139	0.8;0.82;0.85;1.36;0.79;0.85;0.81;1.41	5.71	5.71	0.89125	Tudor-like, plant (1);Tudor domain (1);	0.156524	0.64402	D	0.000013	T	0.56775	0.2008	L	0.33624	1.015	0.80722	D	1	D;P;D;D;D	0.63046	0.988;0.755;0.992;0.99;0.987	P;B;P;P;P	0.60682	0.878;0.291;0.855;0.729;0.526	T	0.54456	-0.8291	10	0.46703	T	0.11	-8.4742	18.4154	0.90568	0.0:1.0:0.0:0.0	.	18;18;18;18;18	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	S	18	ENSP00000378781:R18S;ENSP00000378777:R18S;ENSP00000355301:R18S;ENSP00000378784:R18S;ENSP00000324519:R18S;ENSP00000338269:R18S;ENSP00000378775:R18S;ENSP00000378788:R18S	ENSP00000324519:R18S	R	+	1	0	PHF20L1	133859308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.940000	0.56599	2.685000	0.91497	0.585000	0.79938	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	0	0	0	8	529	0	113	0	3.441907e-02	0	17	0	113	2		0	0	0	0	0	2	0	0.047915	11	518	1	110	17		0	0	0	0	113	2	-2.302103	0	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.130000	0.050000	0.240000	0.130000	0.143951	0.130000	0	9.000000e-02	1.900000e-01
TCEB1	6921	broad.mit.edu	37	8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000522337.1	-	5	531	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)			7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		GCATACTTTCGATAGCACATG	0.398000																								0							SO:0001587	stop_gained			ENST00000522337.1	0	1	hg19	CCDS34910.1	.	.	.	.	.	.	.	.	.	.	G	37	6.088852	0.97271	.	.	ENSG00000154582	ENST00000518127;ENST00000520210;ENST00000520242;ENST00000519487;ENST00000284811;ENST00000522337;ENST00000523815;ENST00000519082	.	.	.	5.66	5.66	0.87406	.	0.000000	0.44902	D	0.000414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.4048	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	X	71;55;71;71;71;71;71;71	.	ENSP00000284811:S71X	S	-	2	0	TCEB1	75021546	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.103000	0.94232	2.669000	0.90835	0.591000	0.81541	TCG		TCGA-HZ-A77Q-01A-11D-A36O-08	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	0	0	0	7	271	0	61	0	9.708467e-01	0	246	0	61	2		0	0	0	0	0	2	1	0.980215	7	268	0	61	2		0	0	0	0	61	2	-3.075696	1	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.220000	0.100000	0.420000	0.220000	0.244872	0.220000	0	1.500000e-01	3.200000e-01
ZFHX4	79776	broad.mit.edu	37	8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		AAACGCTGCTGCCCCTGCAGC	0.512000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535947	0.27475	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.77;0.77	4.8	3.91	0.45181	.	0.861471	0.09598	U	0.780516	T	0.34483	0.0899	N	0.22421	0.69	0.21105	N	0.99978	B;B;B	0.15473	0.008;0.013;0.013	B;B;B	0.18561	0.01;0.022;0.022	T	0.14839	-1.0458	10	0.10636	T	0.68	.	13.5636	0.61804	0.0765:0.0:0.9235:0.0	.	2333;2333;2378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2378;2362;2333;2333;2352	ENSP00000430497:A2378S;ENSP00000399605:A2333S;ENSP00000050961:A2333S;ENSP00000430848:A2352S	ENSP00000050961:A2333S	A	+	1	0	ZFHX4	77928844	0.860000	0.29831	0.005000	0.12908	0.896000	0.52359	4.707000	0.61852	1.210000	0.43336	0.650000	0.86243	GCC		TCGA-HZ-A77Q-01A-11D-A36O-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	0	47	314	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1.000000	47	309	0	112	2		0	0	0	0	113	2	-19.733010	1	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.990000	0.840000	1.000000	1.000000	0.985984	0.990000	1	9.700000e-01	1
CA1	759	broad.mit.edu	37	8	86250487	86250487	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000431316.1_Silent_p.R77R			P00915	CAH1_HUMAN	carbonic anhydrase I			13		all_lung(136;4.89e-06)		Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000523953.1	0	1	hg19	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975851	0.02215	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.14	3.31	0.37934	.	.	.	.	.	T	0.68522	0.3010	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65549	-0.6141	4	.	.	.	-1.2951	13.4955	0.61424	0.0:0.0:0.7637:0.2363	.	.	.	.	Q	13	.	.	P	-	2	0	CA1	86437739	0.998000	0.40836	0.030000	0.17652	0.077000	0.17291	1.135000	0.31454	0.534000	0.28695	0.591000	0.81541	CCG		TCGA-HZ-A77Q-01A-11D-A36O-08	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	0	0	0	11	605	0	174		0	0	0	0	174	2		0	0	0	0	0	2	1	0.998145	11	592	0	173	2		0	0	0	0	174	2	-1.818630	0	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.150000	0.080000	0.260000	0.160000	0.167536	0.150000	0	1.100000e-01	2.100000e-01
SLC26A7	115111	broad.mit.edu	37	8	92364116	92364116	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7			50			BRCA - Breast invasive adenocarcinoma(11;0.00802)		GCTGCCCATGGTACGGTAGTG	0.343000																								0							SO:0001630	splice_region_variant			ENST00000276609.3	1	1	hg19	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245791	0.59103	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.089	0.93219	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC26A7	92433292	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	6.331000	0.72929	2.610000	0.88304	0.591000	0.81541	.		TCGA-HZ-A77Q-01A-11D-A36O-08	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1	1	0	1	77	639	0	194		0	0	0	0	194	2		0	0	0	0	0	2	1	1.000000	75	629	0	190	2		0	0	0	0	194	2	-19.999980	1	1	0	0		1	0	1	1	2.020490	0	0.230000	1.890000	0.228225	0.920000	0.740000	1.000000	1.000000	0.920964	0.920000	1	8.300000e-01	1
IKBKAP	8518	broad.mit.edu	37	9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein			53					ACAGGTTTTCGGAATGGAGCT	0.453000																								0							SO:0001583	missense			ENST00000374647.5	0	1	hg19	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337794	0.24253	.	.	ENSG00000070061	ENST00000374647	T	0.20200	2.09	5.61	-1.68	0.08212	.	0.937565	0.09059	N	0.854523	T	0.28267	0.0698	L	0.58101	1.795	0.09310	N	0.999999	D	0.53462	0.96	P	0.58873	0.847	T	0.33471	-0.9867	10	0.13108	T	0.6	0.1594	4.912	0.13827	0.3142:0.3299:0.3559:0.0	.	316	O95163	ELP1_HUMAN	Q	316	ENSP00000363779:P316Q	ENSP00000363779:P316Q	P	-	2	0	IKBKAP	110718316	0.083000	0.21467	0.028000	0.17463	0.086000	0.17979	0.861000	0.27885	-0.103000	0.12175	-1.004000	0.02495	CCG		TCGA-HZ-A77Q-01A-11D-A36O-08	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1	0	0	0	10	492	0	132	0	3.344671e-02	0	13	0	132	2		0	0	0	0	0	2	1	0.996609	9	483	0	131	2		0	0	0	0	132	2	-2.215935	0	1	0	0		1	0	1	1	2.017515	0	0.230000	1.890000	0.226442	0.170000	0.080000	0.300000	0.170000	0.187630	0.170000	0	1.200000e-01	2.400000e-01
LPAR1	1902	broad.mit.edu	37	9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1			21					ATCCCGATTCCGCCGGGGTCC	0.453000													NSCLC(115;661 2323 9836 34256)											0							SO:0001583	missense			ENST00000374431.3	0	1	hg19	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229298	0.79688	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.19	5.19	0.71726	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.86953	2.85	0.58432	D	0.999999	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.71414	0.973;0.924;0.973	T	0.73004	-0.4119	10	0.87932	D	0	.	17.708	0.88314	0.0:1.0:0.0:0.0	.	249;249;248	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	L	248;249;248;248;230;249	ENSP00000363553:R248L;ENSP00000445697:R249L;ENSP00000363552:R248L;ENSP00000351755:R248L;ENSP00000440201:R249L	ENSP00000351755:R248L	R	-	2	0	LPAR1	112743572	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	6.089000	0.71384	2.437000	0.82529	0.563000	0.77884	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	0	0	0	10	372	0	106	0	4.206893e-01	0	51	0	106	2		0	0	0	0	0	2	1	0.996490	8	363	0	104	2		0	0	0	0	106	2	-2.722102	1	1	0	0		1	0	1	1	2.017515	0	0.230000	1.890000	0.226442	0.230000	0.110000	0.390000	0.230000	0.245737	0.230000	0	1.600000e-01	3.100000e-01
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	T	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3			41					GCTCTGTCTCGGAAGACCTAG	0.423000																								0							SO:0001819	synonymous_variant			ENST00000373387.4	0	1	hg19	CCDS6869.2																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	0	0	0	10	779	0	176	0	6.236348e-04	0	3	0	176	2		0	0	0	0	0	2	1	0.996559	10	763	0	172	2		0	0	0	0	176	2	-1.875923	0	1	0	0		1	0	1	1	2.017515	0	0.230000	1.890000	0.226442	0.110000	0.050000	0.190000	0.110000	0.119851	0.110000	0	7.000000e-02	1.500000e-01
BARHL1	56751	broad.mit.edu	37	9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1			8					CCACGCAAGGCGCGCACGGCC	0.677000																								0							SO:0001583	missense			ENST00000263610.2	0	1	hg19	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831568	0.91036	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.96265	-3.96;-3.96	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	N	0.25094	0.71	0.80722	D	1	P	0.39060	0.657	B	0.41723	0.365	D	0.94391	0.7614	10	0.87932	D	0	.	15.5939	0.76562	0.0:1.0:0.0:0.0	.	181	Q9BZE3	BARH1_HUMAN	V	181	ENSP00000263610:A181V;ENSP00000444704:A181V	ENSP00000263610:A181V	A	+	2	0	BARHL1	134452612	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.811000	0.86092	2.269000	0.75478	0.555000	0.69702	GCG		TCGA-HZ-A77Q-01A-11D-A36O-08	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2	0	0	0	5	39	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	0.933690	4	38	0	15	2		0	0	0	0	15	2	-11.037760	1	1	0	0		1	0	1	1	2.017515	0	0.230000	1.890000	0.226442	0.980000	0.400000	1.000000	1.000000	0.866974	0.980000	1	6.500000e-01	1
SNAPC3	6619	broad.mit.edu	37	9	15459726	15459726	+	Silent	SNP	G	G	T	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa			12					GATGGGTGACGAACAATGACA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000380821.3	0	1	hg19	CCDS6478.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	0	0	0	10	506	0	105	0	2.478432e-01	0	45	0	105	2		0	0	0	0	0	2	1	0.996547	9	495	0	104	2		0	0	0	0	105	2	-2.792254	1	1	0	0		1	0	2	2	2.031152	1	0.230000	1.890000	0.230000	0.170000	0.080000	1.000000	0.170000	0.206948	0.170000	0	1.200000e-01	2.400000e-01
KIAA1432	0	broad.mit.edu	37	9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2				p.R688L(1)		45		Acute lymphoblastic leukemia(23;0.154)			TTGTCCCAGCGGATCATGCTG	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000414202.2	0	1	hg19	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794235	0.90453	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.85062	0.5611	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.997	D	0.85507	0.1195	9	0.51188	T	0.08	-19.9006	20.0079	0.97439	0.0:0.0:1.0:0.0	.	651;688;767;767	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	L	767;767;688;688;651	.	ENSP00000251879:R767L	R	+	2	0	KIAA1432	5753327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.726000	0.93360	0.561000	0.74099	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	0	0	0	9	839	0	247	0	1.070369e-02	0	13	0	247	2		0	0	0	0	0	2	1	0.993947	9	830	0	247	2		0	0	0	0	247	2	-1.871698	0	1	0	0		1	0	2	2	2.031152	1	0.230000	1.890000	0.230000	0.090000	0.040000	1.000000	0.100000	0.127731	0.090000	0	6.000000e-02	1.400000e-01
WWC3	55841	broad.mit.edu	37	X	10090729	10090729	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3			52					CATGTCTGTCGGATTATTCGC	0.522000																								0							SO:0001819	synonymous_variant			ENST00000380861.4	0	1	hg19	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.186238	0.01620	.	.	ENSG00000047644	ENST00000398613	.	.	.	4.72	-9.45	0.00600	.	.	.	.	.	.	.	.	.	.	.	0.51012	D	0.999909	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7766	1.7556	0.02981	0.4469:0.1995:0.1384:0.2152	.	.	.	.	X	572	.	.	G	+	1	0	WWC3	10050729	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-1.599000	0.02085	-3.243000	0.00206	-0.926000	0.02714	GGA		TCGA-HZ-A77Q-01A-11D-A36O-08	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	0	0	0	14	1301	0	401	0	2.460135e-02	0	21	0	401	2		0	0	0	0	0	2	1	0.999713	13	1279	0	396	2		0	0	0	0	401	2	-1.856401	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.090000	0.040000	0.150000	0.100000	0.098770	0.090000	0	6.000000e-02	1.200000e-01
DOCK11	139818	broad.mit.edu	37	X	117796744	117796744	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276202.7	+	45	5128	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276204.6_Missense_Mutation_p.H1689N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11			84					GATGGATGTCCATTATAGTGA	0.338000																								0							SO:0001583	missense			ENST00000276202.7	0	1	hg19	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978984	0.34942	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18016	2.24;2.24	5.61	5.61	0.85477	.	0.052227	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64997	1.995	0.36635	D	0.876492	P;P	0.46020	0.871;0.871	P;P	0.46237	0.508;0.508	T	0.12708	-1.0537	10	0.51188	T	0.08	-15.4143	11.2768	0.49172	0.0:0.9153:0.0:0.0847	.	1689;1689	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	1689	ENSP00000276204:H1689N;ENSP00000276202:H1689N	ENSP00000276202:H1689N	H	+	1	0	DOCK11	117680772	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	2.358000	0.44134	2.493000	0.84123	0.600000	0.82982	CAT		TCGA-HZ-A77Q-01A-11D-A36O-08	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	0	0	0	8	296	0	57	0	3.160310e-01	0	39	0	57	2		0	0	0	0	0	2	1	0.988736	8	290	0	57	2		0	0	0	0	57	2	-3.059626	1	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.230000	0.110000	0.420000	0.220000	0.252932	0.230000	0	1.600000e-01	3.300000e-01
IL13RA1	3597	broad.mit.edu	37	X	117925772	117925772	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1			12					AGGAGGAAACCGACTCTGTAG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000371666.3	0	1	hg19	CCDS14573.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	0	0	0	9	513	1	128	0	9.291015e-02	0	254	1	128	9		0	0	0	0	0	2	0	0.138855	9	504	1	127	15		0	0	0	1	128	2	-2.413749	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.150000	0.070000	0.270000	0.150000	0.164869	0.150000	0	1.000000e-01	2.100000e-01
FRMPD4	9758	broad.mit.edu	37	X	12736390	12736390	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4			22					TCAAGGGGACCGCTTCTTAAC	0.547000																								0							SO:0001583	missense			ENST00000380682.1	0	1	hg19	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	4.574	0.106565	0.08780	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.05382	3.45	5.4	3.44	0.39384	.	0.470669	0.24506	N	0.037922	T	0.02494	0.0076	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47114	-0.9142	10	0.12430	T	0.62	-3.5221	7.3842	0.26872	0.299:0.6019:0.0:0.0991	.	1141;1149	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	S	1149;1140;1138	ENSP00000370057:R1149S	ENSP00000304583:R1138S	R	+	1	0	FRMPD4	12646311	0.028000	0.19301	0.989000	0.46669	0.915000	0.54546	1.772000	0.38552	1.052000	0.40392	0.600000	0.82982	CGC		TCGA-HZ-A77Q-01A-11D-A36O-08	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	0	0	0	12	1020	0	260		0	0	0	0	260	2		0	0	0	0	0	2	1	0.998997	11	1001	0	258	2		0	0	0	0	260	2	-1.981362	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.100000	0.040000	0.170000	0.100000	0.108955	0.100000	0	7.000000e-02	1.400000e-01
MMGT1	93380	broad.mit.edu	37	X	135049610	135049610	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1			3					TGAACTATACCGTAACAGGTA	0.318000																								0							SO:0001583	missense			ENST00000305963.2	0	1	hg19	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545456	0.86022	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.83285	0.5221	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86167	0.1597	9	0.87932	D	0	.	16.9176	0.86155	0.0:1.0:0.0:0.0	.	124;59	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	C	59;124	.	ENSP00000306220:G59C	G	-	1	0	MMGT1	134877276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.289000	0.77006	0.600000	0.82982	GGT		TCGA-HZ-A77Q-01A-11D-A36O-08	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	0	0	0	13	880	0	192	0	2.960969e-02	0	17	0	192	2		0	0	0	0	0	2	1	0.999478	13	869	0	189	2		0	0	0	0	192	2	-1.781452	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.120000	0.060000	0.210000	0.120000	0.135495	0.120000	0	9.000000e-02	1.700000e-01
ATP11C	286410	broad.mit.edu	37	X	138865392	138865392	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000327569.3	-	17	1808	c.1710G>T	c.(1708-1710)tcG>tcT	p.S570S	ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000370557.1_Silent_p.S567S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C			75	Acute lymphoblastic leukemia(192;0.000127)				GAAAAACTGCCGAGTCTGCTC	0.383000																								0							SO:0001819	synonymous_variant			ENST00000327569.3	0	1	hg19	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	7.823	0.718142	0.15372	.	.	ENSG00000101974	ENST00000422228	.	.	.	5.03	-0.535	0.11879	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	.	0.1686	0.00111	0.3292:0.1618:0.2295:0.2795	.	.	.	.	L	122	.	.	R	-	2	0	ATP11C	138693058	0.034000	0.19679	0.888000	0.34837	0.862000	0.49288	-0.918000	0.04021	-0.124000	0.11724	-1.375000	0.01183	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	0	0	0	13	822	0	199	0	3.005734e-02	0	16	0	199	2		0	0	0	0	0	2	1	0.999441	10	803	0	197	2		0	0	0	0	199	2	-2.159076	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.130000	0.070000	0.220000	0.140000	0.144847	0.130000	0	1.000000e-01	1.800000e-01
CXorf22	170063	broad.mit.edu	37	X	35993949	35993949	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22			44					ATTGTATAATCGTCAGAATTG	0.403000																								0							SO:0001583	missense			ENST00000297866.5	0	1	hg19	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766948	0.15983	.	.	ENSG00000165164	ENST00000297866	T	0.14022	2.54	5.31	3.49	0.39957	.	0.893270	0.09773	N	0.757696	T	0.10465	0.0256	L	0.38175	1.15	0.09310	N	0.999997	P	0.37141	0.584	B	0.37047	0.24	T	0.24977	-1.0145	10	0.09084	T	0.74	-2.0E-4	7.3829	0.26866	0.1665:0.7418:0.0:0.0917	.	878	Q6ZTR5	CX022_HUMAN	S	878	ENSP00000297866:R878S	ENSP00000297866:R878S	R	+	1	0	CXorf22	35903870	0.970000	0.33590	0.244000	0.24202	0.047000	0.14425	2.312000	0.43726	0.409000	0.25649	0.600000	0.82982	CGT		TCGA-HZ-A77Q-01A-11D-A36O-08	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	0	0	0	14	865	1	213		0	0	0	1	213	2		0	0	0	0	0	2	1	0.473637	15	844	1	212	15		0	0	0	1	213	2	-2.745912	1	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.130000	0.070000	0.220000	0.140000	0.147473	0.130000	0	1.000000e-01	1.800000e-01
USP9X	8239	broad.mit.edu	37	X	41045841	41045841	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.8	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	p.S1203S(1)		87					ATCCATCATCCGAGTGCATGC	0.403000													Ovarian(172;1807 2695 35459 49286)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000324545.8	0	1	hg19	CCDS43930.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	0	0	8	708	0	174	0	1.170146e-01	0	46	0	174	2		0	0	0	0	0	2	1	0.988325	8	691	0	172	2		0	0	0	0	174	2	-2.364394	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.090000	0.040000	0.180000	0.100000	0.108471	0.090000	0	6.000000e-02	1.400000e-01
FOXP3	50943	broad.mit.edu	37	X	49113997	49113997	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3			10	Ovarian(276;0.236)				CACAGGGGTCCGGGCGTGGGC	0.682000													GBM(182;1432 2112 16160 23073 31774)											0							SO:0001583	missense			ENST00000376207.4	0	1	hg19	CCDS14323.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079527	0.36662	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.98120	-3.67;-3.73;-4.73;-3.73;-4.68;-4.13	5.34	4.47	0.54385	.	0.229124	0.30791	N	0.008864	D	0.92561	0.7637	N	0.19112	0.55	0.28547	N	0.91181	B;B;B;B;B	0.31435	0.174;0.323;0.226;0.174;0.266	B;B;B;B;B	0.21708	0.007;0.018;0.036;0.007;0.027	D	0.87553	0.2466	10	0.38643	T	0.18	.	8.6545	0.34055	0.0:0.8895:0.0:0.1105	.	114;114;79;114;79	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	Q	114;79;79;79;64;114	ENSP00000365380:R114Q;ENSP00000365372:R79Q;ENSP00000451208:R79Q;ENSP00000428952:R79Q;ENSP00000365369:R64Q;ENSP00000396415:R114Q	ENSP00000365369:R64Q	R	-	2	0	FOXP3	49000941	0.999000	0.42202	0.966000	0.40874	0.913000	0.54294	0.873000	0.28052	1.119000	0.41883	0.513000	0.50165	CGG		TCGA-HZ-A77Q-01A-11D-A36O-08	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060814.1	1	0	1	10	78	0	17	0	5.457744e-01	0	15	0	17	2		0	0	0	0	0	2	1	0.997283	10	77	0	16	2		0	0	0	0	17	2	-7.268423	1	1	120744	4	30	1	0	1	1			0.230000	1.890000	0.230000	0.990000	0.520000	1.000000	1.000000	0.898187	0.990000	1	7.300000e-01	1
ZC3H12B	340554	broad.mit.edu	37	X	64719034	64719034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B			29					TGATAACTACCGAGACCTTCA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000338957.4	0	1	hg19	CCDS48131.2																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	0	0	0	7	337	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	0.979844	7	332	0	92	2		0	0	0	0	92	2	-2.495838	0	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.180000	0.080000	0.340000	0.180000	0.199089	0.180000	0	1.200000e-01	2.600000e-01
MSN	4478	broad.mit.edu	37	X	64949377	64949377	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	p.S90S(2)	MSN/ALK(6)	43					AGGATGTGTCCGAGGAATTGA	0.517000			T	ALK	ALCL										Dom	yes		X	Xq11.2-q12	4478	moesin		L	2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000360270.5	0	1	hg19	CCDS14382.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	0	0	0	9	512	0	121	0	8.879128e-01	0	223	0	121	2		0	0	0	0	0	2	1	0.993596	9	499	0	121	2		0	0	0	0	121	2	-2.714086	1	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.150000	0.070000	0.270000	0.150000	0.165182	0.150000	0	1.000000e-01	2.100000e-01
EDA2R	60401	broad.mit.edu	37	X	65819559	65819559	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor			13					GAGCTGCAGTCGTCCTCGAGG	0.577000																								0							SO:0001583	missense			ENST00000374719.3	1	1	hg19	CCDS14386.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868958	0.32977	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000451436;ENST00000253392;ENST00000456230;ENST00000450752	D;D;D;D;D	0.84800	-1.82;-1.82;-1.9;-1.82;-1.9	3.45	3.45	0.39498	.	0.596206	0.13903	N	0.354801	T	0.72859	0.3513	L	0.27053	0.805	0.29256	N	0.871661	P;B;B	0.36125	0.538;0.054;0.004	B;B;B	0.26416	0.069;0.004;0.002	T	0.66602	-0.5882	10	0.32370	T	0.25	-5.3956	11.6654	0.51370	0.0:1.0:0.0:0.0	.	97;242;221	E7EUS4;Q9HAV5-2;Q9HAV5	.;.;TNR27_HUMAN	N	221;221;97;242;221;242	ENSP00000363851:D221N;ENSP00000379365:D221N;ENSP00000253392:D242N;ENSP00000393935:D221N;ENSP00000402929:D242N	ENSP00000253392:D242N	D	-	1	0	EDA2R	65736284	0.005000	0.15991	0.832000	0.32986	0.881000	0.50899	0.252000	0.18278	1.573000	0.49748	0.523000	0.50628	GAC		TCGA-HZ-A77Q-01A-11D-A36O-08	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	1	0	0	13	99	0	27	0	1.574213e-02	0	2	0	27	2		0	0	0	0	0	2	1	0.999596	12	98	0	25	2		0	0	0	0	27	2	-19.907100	1	1	121332	2	29	1	0	1	1			0.230000	1.890000	0.230000	0.990000	0.580000	1.000000	1.000000	0.915876	0.990000	1	7.700000e-01	1
ARR3	407	broad.mit.edu	37	X	69497974	69497974	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000307959.8	+	11	804	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000374495.3_Missense_Mutation_p.F251L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)			16					AGACTGTGTTCATTCAGGAAT	0.512000																								0							SO:0001583	missense			ENST00000307959.8	0	1	hg19	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423118	0.43020	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.16196	2.36;2.36	4.45	2.62	0.31277	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.463590	0.25622	N	0.029404	T	0.07279	0.0184	N	0.04162	-0.26	0.33290	D	0.563337	P;B	0.38280	0.625;0.001	B;B	0.34931	0.192;0.002	T	0.23547	-1.0185	10	0.44086	T	0.13	.	9.4817	0.38904	0.0:0.8173:0.0:0.1827	.	251;251	P36575;P36575-2	ARRC_HUMAN;.	L	251	ENSP00000363619:F251L;ENSP00000311538:F251L	ENSP00000311538:F251L	F	+	3	2	ARR3	69414699	0.664000	0.27457	0.266000	0.24541	0.988000	0.76386	1.268000	0.33062	0.260000	0.21731	0.513000	0.50165	TTC		TCGA-HZ-A77Q-01A-11D-A36O-08	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	0	0	0	8	349	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	0.988816	6	345	0	83	2		0	0	0	0	86	2	-8.121649	1	0	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.200000	0.090000	0.360000	0.200000	0.215943	0.200000	0	1.400000e-01	2.800000e-01
KIAA2022	340533	broad.mit.edu	37	X	73963428	73963428	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000055682.6	-	3	1575	c.964C>A	c.(964-966)Cga>Aga	p.R322R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	p.R322*(1)		109					GTCTTGTCTCGAACATTGTCC	0.438000																								1	Substitution - Nonsense(1)						SO:0001819	synonymous_variant			ENST00000055682.6	0	1	hg19	CCDS35337.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	0	0	0	8	594	0	156		0	0	0	0	156	2		0	0	0	0	0	2	1	0.989074	8	589	0	156	2		0	0	0	0	156	2	-2.881833	1	1	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.110000	0.050000	0.220000	0.120000	0.128834	0.110000	0	8.000000e-02	1.700000e-01
SHROOM2	357	broad.mit.edu	37	X	9864330	9864330	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2			57		Hepatocellular(5;0.000888)			TGGGCACGTTTGCTGACAGGT	0.557000																								0							SO:0001819	synonymous_variant			ENST00000380913.3	1	1	hg19	CCDS14135.1																																																																																				TCGA-HZ-A77Q-01A-11D-A36O-08	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	1	0	0	36	224	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	35	222	0	68	2		0	0	0	0	71	2	-20.000000	1	0	0	0		1	0	1	1			0.230000	1.890000	0.230000	0.990000	0.860000	1.000000	1.000000	0.990567	0.990000	1	9.900000e-01	1
