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
ITPR2	3709	broad.mit.edu	37	12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)atgfs	p.M785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2		ETV6/ITPR2(2)	125	Colorectal(261;0.0847)			Caffeine(DB00201)	GTCAACGTGCATGTGGAGCATG	0.554000																								0							SO:0001589	frameshift_variant			ENST00000381340.3	0	1	hg19	CCDS41764.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	0	97	298	0	125			0	0	0	125				0	0	0	0		1	1.000000	99	295	0	124	2	0	0	0	0	0	0		-5.232658	1	1	0	0		1	0	0	0	2.014243	0	0.670000	1.880000	0.658562	0.700000	5.800000e-01	0.830000	0.700000	0.711250	0.700000	0	6.400000e-01	0.770000
NYNRIN	57523	broad.mit.edu	37	14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gacfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					AGCCGCCCGGACACCCCCTACT	0.604000																								0							SO:0001589	frameshift_variant			ENST00000382554.3	1	1	hg19	CCDS45090.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	0	18	81	0	34	0	6.744615e-01	1	11	0	34	2			0	0	0	0		1	0.999993	20	82	0	35	2	0	0	0	0	0	0		-20.000000	1	0	0	0		1	0	0	0	2.089217	0	0.670000	1.880000	0.670000	0.540000	3.400000e-01	0.780000	0.540000	0.558759	0.540000	0	4.300000e-01	0.670000
SMAD4	4089	broad.mit.edu	37	18	48575215	48575216	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:48575215_48575216insT	ENST00000342988.3	+	3	947_948	c.409_410insT	c.(409-411)gtafs	p.V137fs	SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.V137fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.V137fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.V137fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(4)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			CGAACGAGTTGTATCACCTGGA	0.307000																								40	Whole gene deletion(36)|Unknown(4)						SO:0001589	frameshift_variant			ENST00000342988.3	0	1	hg19	CCDS11950.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	81	180	0	83	0	6.027288e-01	0	6	0	83	2	1	1	142	315	0	341	2	1	1.000000	80	173	0	84	2	0	0	0	0	0	0		-20.000000	1	0	0	0		1	0	1	1	1.430727	1	0.670000	1.880000	0.506247	0.610000	5.000000e-01	0.720000	0.620000	0.619723	0.610000	0	5.500000e-01	0.670000
RAB12	201475	broad.mit.edu	37	18	8636248	8636249	+	Splice_Site	DEL	CA	CA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			CA	-	CA	CA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:8636248_8636249delCA	ENST00000329286.6	+	5	799		c.e5-1		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family			7					TGTTTCTTCTCAGTTTGCACAG	0.495000																								0							SO:0001630	splice_region_variant			ENST00000329286.6	1	1	hg19	CCDS42410.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	0	0	0	46	176	0	68	0	9.999998e-01	1	94	0	68	2			0	0	0	0		1	1.000000	46	175	0	68	2	0	0	0	0	0	0		-3.575013	1	1	0	0		1	1	2	3	2.164012	0	0.670000	1.880000	0.676502	0.630000	4.700000e-01	1.000000	0.620000	0.654574	0.630000	0	5.500000e-01	0.740000
ARID1A	8289	broad.mit.edu	37	1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000324856.7	+	20	6160	c.5789delC	c.(5788-5790)tcafs	p.S1930fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			GCTAAGAGTTCAGAGGCCATC	0.522000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001589	frameshift_variant			ENST00000324856.7	1	1	hg19	CCDS285.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	0	143	326	0	160	1	9.999997e-01	23	30	0	160	2	1	1	201	569	0	605	2	1	1.000000	144	322	0	160	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.448612	1	0.670000	1.880000	0.503759	0.590000	5.100000e-01	0.680000	0.600000	0.605632	0.590000	0	5.500000e-01	0.650000
SAMSN1	64092	broad.mit.edu	37	21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000400566.1	-	3	343	c.262delG	c.(262-264)gccfs	p.A88fs	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Frame_Shift_Del_p.A156fs	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1			24					TCAGAAAGGGCTTTGATGTAC	0.318000																								0							SO:0001589	frameshift_variant			ENST00000400566.1			hg19	CCDS42906.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		0		33	205	0	83	0	1.003573e-01	0	4	0	83	2			0	0	0	0		1	1.000000	34	201	0	83	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.100437	0	0.670000	1.880000	0.671102	0.410000	2.900000e-01	0.560000	0.420000	0.423432	0.410000	0	3.500000e-01	0.490000
SDK1	221935	broad.mit.edu	37	7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000404826.2	+	7	1105_1115	c.966_976delGGAGGACCTGA	c.(964-978)gtggaggacctgagtfs	p.EDLS323fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.EDLS323fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	p.V322V(1)		153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583000																								1	Substitution - coding silent(1)						SO:0001589	frameshift_variant			ENST00000404826.2	1	1	hg19	CCDS34590.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	0	49	233	0	66	0	1.050271e-13	0	1	0	66	2			0	0	0	0		1	1.000000	50	233	0	65	2	0	0	0	0	0	0		-3.210836	1	1	0	0		1	0	0	0	2.082795	0	0.670000	1.880000	0.670000	0.510000	3.900000e-01	0.650000	0.520000	0.524617	0.510000	0	4.500000e-01	0.590000
BTRC	8945	broad.mit.edu	37	10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000393441.4_Missense_Mutation_p.C46W|BTRC_ENST00000408038.2_Missense_Mutation_p.C51W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase			27		Colorectal(252;0.234)			CCAGACTCTGCTTAAACCAAG	0.353000																								0							SO:0001583	missense			ENST00000370187.3	1	1	hg19	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988372	0.74589	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000539411;ENST00000370183	T;T;T	0.62232	0.24;0.3;0.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.58949	0.2158	N	0.19112	0.55	0.58432	D	0.999999	P;P;D	0.54047	0.939;0.876;0.964	P;P;P	0.49853	0.506;0.609;0.624	T	0.61337	-0.7083	10	0.45353	T	0.12	-10.7863	19.4281	0.94754	0.0:1.0:0.0:0.0	.	61;51;87	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	87;46;51;25;69	ENSP00000359206:C87W;ENSP00000377088:C46W;ENSP00000385339:C51W	ENSP00000359202:C69W	C	+	3	2	BTRC	103229141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.642000	0.89623	0.655000	0.94253	TGC		TCGA-HZ-A8P1-01A-11D-A377-08	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	1	0	1	90	177	0	86	1	8.974060e-01	2	8	0	86	2		0	0	0	0	0	2	1	1.000000	89	175	0	86	2		0	0	0	0	86	2	-20.000000	1	1	0	0		1	1	2	3	2.135652	0	0.670000	1.880000	0.674364	0.990000	8.400000e-01	1.000000	1.000000	0.975694	0.990000	1	9.300000e-01	1.000000
ECD	11319	broad.mit.edu	37	10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Missense_Mutation_p.Y269H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)			21	Prostate(51;0.0119)				AATTGTGCATATAGACATTTA	0.433000																								0							SO:0001583	missense			ENST00000372979.4	1	1	hg19	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845475	0.91197	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000453402	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79636	-0.1721	10	0.87932	D	0	-18.1447	14.2899	0.66270	1.0:0.0:0.0:0.0	.	269;269	C9JX46;O95905	.;SGT1_HUMAN	H	269;269;195	ENSP00000362070:Y269H;ENSP00000401566:Y269H;ENSP00000391367:Y195H	ENSP00000362070:Y269H	Y	-	1	0	ECD	74582164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.234000	0.95347	2.255000	0.74692	0.533000	0.62120	TAT		TCGA-HZ-A8P1-01A-11D-A377-08	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	1	0	1	96	180	0	96	1	9.999713e-01	11	22	0	96	2		0	0	0	0	0	2	1	1.000000	92	178	0	96	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	1	2	3	2.135652	0	0.670000	1.880000	0.674364	0.990000	8.800000e-01	1.000000	1.000000	0.986498	0.990000	1	9.600000e-01	1.000000
CDHR1	92211	broad.mit.edu	37	10	85968486	85968486	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CDHR1_ENST00000332904.3_Splice_Site_p.G390E|CDHR1_ENST00000440770.2_Splice_Site_p.G149E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1			36					ATTCTCTAGGGAGCCAATGCC	0.453000																								0							SO:0001630	splice_region_variant			ENST00000372117.3	1	0	hg19	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705035	0.88924	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.64991	-0.05;-0.05;-0.13	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86541	0.1828	10	0.56958	D	0.05	-10.8744	18.2373	0.89954	0.0:0.0:1.0:0.0	.	149;390;390	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	390;390;149	ENSP00000331063:G390E;ENSP00000361189:G390E;ENSP00000415980:G149E	ENSP00000331063:G390E	G	+	2	0	CDHR1	85958466	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.476000	0.97823	2.599000	0.87857	0.655000	0.94253	GGA		TCGA-HZ-A8P1-01A-11D-A377-08	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1	34	100	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1.000000	34	98	0	47	2		0	0	0	0	47	2	-20.000000	1	1	0	0		1	1	2	3	2.135652	0	0.670000	1.880000	0.674364	0.770000	5.600000e-01	1.000000	0.760000	0.780856	0.770000	0	6.600000e-01	0.900000
DSCAML1	57453	broad.mit.edu	37	11	117376404	117376404	+	Silent	SNP	G	G	A	rs140529836	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1			110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)			GCAGCTGGCCGATGGAGGCGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000321322.6	1	1	hg19	CCDS8384.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1	35	126	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1.000000	35	124	0	29	2		0	0	0	0	33	2	-3.715768	1	1	121412	19	44	1	1	2	3	2.097972	0	0.670000	1.880000	0.671102	0.650000	4.700000e-01	0.860000	0.640000	0.659468	0.650000	0	5.500000e-01	0.760000
IFT46	56912	broad.mit.edu	37	11	118416125	118416125	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264021.3	-	11	1236	c.818A>G	c.(817-819)cAg>cGg	p.Q273R	TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264020.2_Splice_Site_p.Q324R|TMEM25_ENST00000354284.4_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46			9					TTGGCTCACCTGTGAGTTCTT	0.463000																								0							SO:0001630	splice_region_variant			ENST00000264021.3	1	0	hg19	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756597	0.69648	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.51325	0.74;0.71	6.03	6.03	0.97812	.	0.122109	0.56097	D	0.000029	T	0.72630	0.3484	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.964	T	0.75906	-0.3152	10	0.48119	T	0.1	-1.6128	16.5655	0.84588	0.0:0.0:0.0:1.0	.	273;324	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	R	273;324	ENSP00000264021:Q273R;ENSP00000264020:Q324R	ENSP00000264020:Q324R	Q	-	2	0	IFT46	117921335	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.966000	0.76073	2.302000	0.77476	0.533000	0.62120	CAG		TCGA-HZ-A8P1-01A-11D-A377-08	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	1	0	1	169	334	0	159	1	1	15	38	0	159	2		0	0	0	0	0	2	1	1.000000	169	332	0	159	2		0	0	0	0	159	2	-20.000000	1	0	0	0		1	1	2	3	2.097972	0	0.670000	1.880000	0.671102	0.990000	8.700000e-01	1.000000	1.000000	0.978225	0.990000	1	9.300000e-01	1.000000
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1			35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)			TCATCCCAAAAGGGGTAGCAA	0.448000																								0							SO:0001583	missense			ENST00000392668.4	0	1	hg19	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		TCGA-HZ-A8P1-01A-11D-A377-08	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	0	0	0	4	235	0	94	0	2.969230e-03	0	4	0	94	2		0	0	0	0	0	2	1	0.889142	4	233	0	93	2		0	0	0	0	94	2	-2.671366	1	1	0	0		1	1	2	3	2.097972	0	0.670000	1.880000	0.671102	0.050000	1.000000e-02	0.130000	0.050000	0.061901	0.050000	0	2.000000e-02	0.090000
OR5M8	219484	broad.mit.edu	37	11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8			37	Esophageal squamous(21;0.00352)				TGTAATTCCCGGCGACTGGTC	0.478000																								0							SO:0001583	missense			ENST00000327216.2	1	1	hg19	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154606	0.21371	.	.	ENSG00000181371	ENST00000327216	T	0.00012	9.32	4.13	-0.307	0.12777	.	1.292630	0.06259	U	0.693636	T	0.00073	0.0002	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14282	-1.0478	10	0.87932	D	0	0.1659	2.6013	0.04867	0.0964:0.1586:0.2929:0.4521	.	20	Q8NGP6	OR5M8_HUMAN	W	20	ENSP00000323354:R20W	ENSP00000323354:R20W	R	-	1	2	OR5M8	56015365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	-0.005000	0.14395	-1.826000	0.00596	CGG		TCGA-HZ-A8P1-01A-11D-A377-08	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	1	0	1	117	263	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1.000000	116	262	0	100	2		0	0	0	0	100	2	-9.293573	1	1	121410	1	39	1	1	2	3	2.094609	0	0.670000	1.880000	0.671102	0.910000	7.800000e-01	1.000000	1.000000	0.918590	0.910000	1	8.400000e-01	0.990000
CORO1B	57175	broad.mit.edu	37	11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000341356.5	-	4	495	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000393893.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000539724.1_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B			13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		GTGTGCCCCTCCAGTACCACC	0.667000																								0							SO:0001583	missense			ENST00000341356.5	1	1	hg19	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110965	0.37242	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.6	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38548	N	0.001648	T	0.38214	0.1032	N	0.12569	0.235	0.49582	D	0.9998	B;B;B	0.28933	0.03;0.054;0.228	B;B;B	0.30782	0.032;0.027;0.12	T	0.13098	-1.0522	10	0.15952	T	0.53	-30.956	14.16	0.65441	0.0:0.8485:0.1515:0.0	.	129;129;129	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	Q	129;129;156;129;129	ENSP00000377471:E129Q;ENSP00000340211:E129Q;ENSP00000416006:E129Q;ENSP00000438056:E129Q	ENSP00000340211:E129Q	E	-	1	0	CORO1B	66965849	1.000000	0.71417	0.778000	0.31720	0.027000	0.11550	5.697000	0.68295	1.094000	0.41399	0.563000	0.77884	GAG		TCGA-HZ-A8P1-01A-11D-A377-08	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	1	0	1	45	168	0	47	1	1	124	248	0	47	2		0	0	0	0	0	2	1	1.000000	45	167	0	47	2		0	0	0	0	47	2	-3.720150	1	1	0	0		1	1	2	3	2.094609	0	0.670000	1.880000	0.671102	0.630000	4.700000e-01	0.810000	0.630000	0.639338	0.630000	0	5.500000e-01	0.720000
KRTAP5-8	57830	broad.mit.edu	37	11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8			6					TGTGGGGGCTCCAAGGGGGAC	0.662000																								0							SO:0001583	missense			ENST00000398534.3	0	1	hg19	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.272812	0.01421	.	.	ENSG00000241233	ENST00000398534	T	0.01464	4.86	1.57	-2.72	0.05968	.	.	.	.	.	T	0.00906	0.0030	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47407	-0.9120	9	0.66056	D	0.02	.	1.4457	0.02364	0.2034:0.2381:0.404:0.1545	.	66	O75690	KRA58_HUMAN	C	66	ENSP00000420723:S66C	ENSP00000420723:S66C	S	+	2	0	KRTAP5-8	70926946	0.625000	0.27111	0.316000	0.25252	0.039000	0.13416	-0.432000	0.06956	-0.741000	0.04797	-0.287000	0.09952	TCC		TCGA-HZ-A8P1-01A-11D-A377-08	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	0	0	0	16	964	0	273		0	0	0	0	273	2		0	0	0	0	0	2	1	0.999920	15	946	0	270	2		0	0	0	0	273	2	-2.417469	0	1	0	0		1	1	2	3	2.094609	0	0.670000	1.880000	0.671102	0.040000	2.000000e-02	0.080000	0.050000	0.051552	0.040000	0	3.000000e-02	0.070000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-A8P1-01A-11D-A377-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	73	183	0	84	1	9.993604e-01	16	15	0	84	2	1	1	140	407	0	443	2	1	1.000000	71	180	0	84	2	1	1	2713	5318	0	84	2	-20.000000	1	1	121404	2	44	1	0	0	0	2.014243	0	0.670000	1.880000	0.658562	0.810000	6.600000e-01	0.980000	0.820000	0.825240	0.810000	0	7.300000e-01	0.900000
MYF6	4618	broad.mit.edu	37	12	81101627	81101627	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)			26					CCTTGTCCCCCTGCCAGGACC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000228641.3	1	1	hg19	CCDS9019.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	1	0	1	91	187	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1.000000	90	187	0	103	2		0	0	0	0	103	2	-9.294792	1	1	0	0		1	0	0	0	2.014243	0	0.670000	1.880000	0.658562	0.930000	7.800000e-01	1.000000	1.000000	0.933651	0.930000	1	8.500000e-01	1.000000
PZP	5858	broad.mit.edu	37	12	9303328	9303328	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein			102					AAAAACTTAGCGTCTGATTTG	0.393000													Melanoma(125;1402 1695 4685 34487 38571)											0							SO:0001819	synonymous_variant			ENST00000261336.2	1	1	hg19	CCDS8600.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	1	0	1	87	195	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	85	195	0	82	2		0	0	0	0	82	2	-20.000000	1	1	121410	1	35	1	0	0	0	2.036709	0	0.670000	1.880000	0.665518	0.900000	7.500000e-01	1.000000	1.000000	0.905102	0.900000	1	8.200000e-01	0.990000
MCF2L	23263	broad.mit.edu	37	13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000375608.3	+	24	2763	c.2705C>T	c.(2704-2706)aCg>aTg	p.T902M	MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000397030.1_Missense_Mutation_p.T905M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like			8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)			GTTGGCATTACGGAGAACGTG	0.577000																								0							SO:0001583	missense			ENST00000375608.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.540927|2.540927	0.45280|0.45280	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.76968	.|2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;-1.06	5.08|5.08	4.24|4.24	0.50183|0.50183	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.95982|0.95982	3.75|3.75	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.93344|0.93344	0.6712|0.6712	5|10	.|0.87932	.|D	.|0	.|.	13.4666|13.4666	0.61258|0.61258	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|870;872;929;870;902	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	W|M	102;43|902;902;929;905;872;876;876;878;870;870;713	.|ENSP00000364758:T902M;ENSP00000401422:T902M;ENSP00000364754:T929M;ENSP00000380225:T905M;ENSP00000440374:T872M;ENSP00000397285:T876M;ENSP00000364751:T876M;ENSP00000407722:T878M;ENSP00000405639:T870M;ENSP00000364747:T870M	.|ENSP00000364747:T870M	R|T	+|+	1|2	2|0	MCF2L|MCF2L	112790041|112790041	1.000000|1.000000	0.71417|0.71417	0.440000|0.440000	0.26846|0.26846	0.010000|0.010000	0.07245|0.07245	7.611000|7.611000	0.82962|0.82962	1.132000|1.132000	0.42129|0.42129	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG		TCGA-HZ-A8P1-01A-11D-A377-08	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	1	0	1	36	98	0	32	1	7.920884e-01	5	5	0	32	2		0	0	0	0	0	2	1	1.000000	35	98	0	32	2		0	0	0	0	32	2	-20.000000	1	1	121406	1	36	1	0	0	0	2.064236	0	0.670000	1.880000	0.667774	0.790000	5.800000e-01	1.000000	1.000000	0.801386	0.790000	0	6.800000e-01	0.910000
UGGT2	55757	broad.mit.edu	37	13	96675949	96675949	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000397618.3_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2			60					AAAGGTTGATGTGTAAATTGT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000376747.3	1	1	hg19	CCDS9480.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	1	0	1	136	291	0	174	1	8.334380e-01	3	6	0	174	2		0	0	0	0	0	2	1	1.000000	133	290	0	173	2		0	0	0	0	174	2	-20.000000	1	1	0	0		1	0	0	0	2.064236	0	0.670000	1.880000	0.667774	0.930000	8.100000e-01	1.000000	1.000000	0.937670	0.930000	1	8.700000e-01	1.000000
IPO5	3843	broad.mit.edu	37	13	98666315	98666315	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000490680.1	+	19	2237	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A	IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000261574.5_Silent_p.A742A			O00410	IPO5_HUMAN	importin 5	p.A742A(1)		27					TGGCAGCAGCGGAATCCATGC	0.428000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000490680.1	0	1	hg19		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.67	1.415607	0.25552	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.75	-3.63	0.04529	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	-3.754	6.4092	0.21682	0.4783:0.338:0.1837:0.0	.	.	.	.	Q	726	.	.	R	+	2	0	IPO5	97464316	0.954000	0.32549	0.947000	0.38551	0.989000	0.77384	0.135000	0.15952	-0.437000	0.07243	-0.294000	0.09567	CGG		TCGA-HZ-A8P1-01A-11D-A377-08	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	0	0	7	407	0	161	1	6.512885e-01	2	122	0	161	2		0	0	0	0	0	2	1	0.979950	8	401	0	160	2		0	0	0	0	161	2	-1.992736	0	1	121412	11	44	1	0	0	0	2.064236	0	0.670000	1.880000	0.667774	0.040000	1.000000e-02	0.100000	0.050000	0.057018	0.040000	0	3.000000e-02	0.080000
SAMD4A	23034	broad.mit.edu	37	14	55226887	55226887	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000554335.1	+	7	1848	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000251091.5_Silent_p.I307I|SAMD4A_ENST00000555192.1_5'UTR			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	p.I394I(1)		29					AGGACATCATCGAGGGGGGCA	0.632000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000554335.1	0	1	hg19	CCDS32084.2																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	0	0	0	7	806	0	179	0	1.056405e-03	0	5	0	179	2		0	0	0	0	0	2	1	0.979761	7	796	0	179	2		0	0	0	0	179	2	-2.458304	0	1	121152	70	54	1	0	0	0	2.089217	0	0.670000	1.880000	0.670000	0.020000	0	0.050000	0.020000	0.027872	0.020000	0	0	0.040000
GABRG3	2567	broad.mit.edu	37	15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3			42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCGTACTCCCGGGTCTTTTT	0.473000													NSCLC(114;800 1656 7410 37729 45293)											0							SO:0001583	missense			ENST00000333743.6	1	1	hg19	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852493	0.71719	.	.	ENSG00000182256	ENST00000333743	D	0.86366	-2.11	5.75	2.63	0.31362	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.061993	0.64402	D	0.000007	D	0.93327	0.7873	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92650	0.6132	10	0.87932	D	0	.	9.021	0.36200	0.471:0.4096:0.1194:0.0	.	446	Q99928	GBRG3_HUMAN	W	446	ENSP00000331912:R446W	ENSP00000331912:R446W	R	+	1	2	GABRG3	25451554	0.997000	0.39634	0.480000	0.27341	0.902000	0.53008	3.752000	0.55172	0.748000	0.32831	0.650000	0.86243	CGG		TCGA-HZ-A8P1-01A-11D-A377-08	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2	1	0	1	36	121	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	35	121	0	57	2		0	0	0	0	58	2	-3.362228	1	1	0	0		1	1	2	3	2.100062	0	0.670000	1.880000	0.671102	0.680000	5.000000e-01	0.900000	0.680000	0.694728	0.680000	0	5.900000e-01	0.790000
ZSCAN2	54993	broad.mit.edu	37	15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000448803.2	+	2	657	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2			19					GAGGAGGCAGCGGCCCTGGTG	0.567000																								0							SO:0001583	missense			ENST00000448803.2	1	1	hg19	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284280	0.05605	0.0	1.16E-4	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000334141;ENST00000379358;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	5.63	-1.28	0.09318	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.282320	0.24927	N	0.034484	T	0.00784	0.0026	N	0.00301	-1.68	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.0;0.001;0.003	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.001	T	0.44019	-0.9355	10	0.13853	T	0.58	-9.9035	3.0178	0.06065	0.2893:0.2494:0.0:0.4613	.	122;122;122;122;122;122;122	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9;Q7Z7L9-4;Q7Z7L9-3	.;.;.;.;ZSCA2_HUMAN;.;.	V	122;122;122;122;122;122;122;122;103	ENSP00000410198:A122V;ENSP00000445451:A122V;ENSP00000333895:A122V;ENSP00000368663:A122V;ENSP00000325123:A122V;ENSP00000441342:A122V;ENSP00000439132:A122V;ENSP00000440004:A122V	ENSP00000325123:A122V	A	+	2	0	ZSCAN2	82948527	0.992000	0.36948	0.081000	0.20488	0.858000	0.48976	0.340000	0.19892	-0.444000	0.07170	-0.290000	0.09829	GCG		TCGA-HZ-A8P1-01A-11D-A377-08	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	1	0	1	51	129	0	48	0	8.274785e-02	1	1	0	48	2		0	0	0	0	0	2	1	1.000000	51	129	0	48	2		0	0	0	0	48	2	-5.727149	1	1	121410	3	35	1	1	2	3	2.100062	0	0.670000	1.880000	0.671102	0.840000	6.500000e-01	1.000000	1.000000	0.849808	0.840000	0	7.400000e-01	0.950000
ANKS3	124401	broad.mit.edu	37	16	4752111	4752111	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:4752111C>T	ENST00000304283.4	-	9	1295	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3			19					ACCCCGActgctgctgctgct	0.662000																								0							SO:0001583	missense			ENST00000304283.4	0	1	hg19	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860829	0.71834	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.55588	0.93;2.65;0.51	5.53	5.53	0.82687	.	0.199023	0.42420	D	0.000704	T	0.70263	0.3204	M	0.68952	2.095	0.42380	D	0.992485	D;B	0.76494	0.999;0.32	D;B	0.64877	0.93;0.249	T	0.69533	-0.5120	10	0.46703	T	0.11	-11.6641	18.8095	0.92053	0.0:1.0:0.0:0.0	.	128;334	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	N	334;205;128	ENSP00000304586:S334N;ENSP00000406796:S205N;ENSP00000388270:S128N	ENSP00000304586:S334N	S	-	2	0	ANKS3	4692112	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.139000	0.71728	2.769000	0.95229	0.655000	0.94253	AGC		TCGA-HZ-A8P1-01A-11D-A377-08	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	0	0	0	4	133	0	51	0	1.797504e-01	0	21	0	51	2		0	0	0	0	0	2	0	0.880666	0	131	0	50	2		0	0	0	0	51	2	-6.806956	1	0	0	0		1	1	2	3	2.098963	0	0.670000	1.880000	0.671102	0.090000	2.000000e-02	0.220000	0.090000	0.107345	0.090000	0	5.000000e-02	0.150000
BBS2	583	broad.mit.edu	37	16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2			26					TGGGATTATGCCCCGATGCCC	0.498000									Bardet-Biedl syndrome															0							SO:0001583	missense	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	ENST00000245157.5	0	1	hg19	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826572	0.71143	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.38	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	L	0.55017	1.72	0.80722	D	1	P	0.34997	0.479	B	0.37480	0.251	D	0.88279	0.2935	10	0.59425	D	0.04	-7.8682	13.8574	0.63537	0.0:0.9273:0.0:0.0727	.	375	Q9BXC9	BBS2_HUMAN	D	375	ENSP00000245157:G375D	ENSP00000245157:G375D	G	-	2	0	BBS2	55092867	1.000000	0.71417	0.627000	0.29227	0.991000	0.79684	5.495000	0.66912	1.285000	0.44548	0.650000	0.86243	GGC		TCGA-HZ-A8P1-01A-11D-A377-08	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	0	0	0	5	499	0	149	0	1.131596e-01	0	47	0	149	2		0	0	0	0	0	2	1	0.935507	5	492	0	148	2		0	0	0	0	149	2	-2.214990	0	1	0	0		1	1	2	3	2.114270	0	0.670000	1.880000	0.672196	0.020000	0	0.080000	0.030000	0.044381	0.020000	0	1.000000e-02	0.050000
DEF8	54849	broad.mit.edu	37	16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000268676.7	+	7	799	c.710G>T	c.(709-711)cGc>cTc	p.R237L	DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000563594.1_Missense_Mutation_p.R176L|DEF8_ENST00000563848.1_3'UTR	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)			12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)			TGTTATTACCGCTGTCACAGT	0.582000																								0							SO:0001583	missense			ENST00000268676.7	1	1	hg19	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126553	0.77549	.	.	ENSG00000140995	ENST00000268676	D	0.83419	-1.72	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.135757	0.49916	D	0.000129	T	0.77538	0.4145	N	0.10733	0.035	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.966	P;P;P	0.56343	0.738;0.796;0.796	T	0.77247	-0.2658	10	0.25106	T	0.35	-4.7809	15.8391	0.78831	0.0:0.0:1.0:0.0	.	176;166;237	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	L	237	ENSP00000268676:R237L	ENSP00000268676:R237L	R	+	2	0	DEF8	88554852	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.982000	0.76173	2.119000	0.64992	0.462000	0.41574	CGC		TCGA-HZ-A8P1-01A-11D-A377-08	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	0	0	1	159	380	0	190	1	9.978754e-01	8	17	0	190	2		0	0	0	0	0	2	1	1.000000	157	373	0	190	2		0	0	0	0	190	2	-20.000000	1	1	0	0		1	1	2	3	2.114270	0	0.670000	1.880000	0.672196	0.880000	7.600000e-01	1.000000	0.890000	0.888282	0.880000	1	8.200000e-01	0.950000
MYH2	4620	broad.mit.edu	37	17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000245503.5	-	23	3088	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult			176					GCCAAGCCTTCGGCTTCCTTA	0.393000																								0							SO:0001583	missense			ENST00000245503.5	0	1	hg19	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774792	0.70107	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83755	-1.76;-1.76	5.15	5.15	0.70609	.	0.176467	0.26605	U	0.023460	D	0.89269	0.6667	H	0.95004	3.61	0.58432	D	0.999992	P	0.35411	0.5	B	0.37422	0.249	D	0.91254	0.5031	10	0.72032	D	0.01	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	902	Q9UKX2	MYH2_HUMAN	K	902	ENSP00000245503:E902K;ENSP00000380367:E902K	ENSP00000245503:E902K	E	-	1	0	MYH2	10374110	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.361000	0.79497	2.661000	0.90470	0.591000	0.81541	GAA		TCGA-HZ-A8P1-01A-11D-A377-08	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	0	0	0	6	452	0	250		0	0	0	0	250	2		0	0	0	0	0	2	1	0.964240	6	448	0	249	2		0	0	0	0	250	2	-2.565200	1	1	121412	3	38	1	1	2	3	2.138423	0	0.670000	1.880000	0.674364	0.030000	0	1.000000	0.040000	0.073329	0.030000	0	2.000000e-02	0.070000
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8			77					TTCATGAGGCGCATGCGGGCA	0.517000																								0							SO:0001583	missense			ENST00000572621.1	0	1	hg19	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993235	0.74703	.	.	ENSG00000174231	ENST00000304992	D	0.84800	-1.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-7.3509	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1141	Q6P2Q9	PRP8_HUMAN	C	1141	ENSP00000304350:R1141C	ENSP00000304350:R1141C	R	-	1	0	PRPF8	1523815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.675000	0.61619	2.833000	0.97629	0.585000	0.79938	CGC		TCGA-HZ-A8P1-01A-11D-A377-08	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	0	5	422	1	125	0	3.191644e-02	0	75	1	125	4		0	0	0	0	0	2	0	0.044455	5	419	1	125	13		0	0	0	1	125	2	-1.999209	0	1	0	0		1	1	2	3	2.138423	0	0.670000	1.880000	0.674364	0.030000	0	1.000000	0.040000	0.069450	0.030000	0	1.000000e-02	0.060000
CDC37	11140	broad.mit.edu	37	19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37			16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)		TTTGCTGAGCGTGTCCACGTT	0.662000																								0							SO:0001583	missense			ENST00000222005.2	0	1	hg19	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355303	0.61293	.	.	ENSG00000105401	ENST00000222005	T	0.50813	0.73	4.05	4.05	0.47172	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.91196	3.185	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.35114	0.196;0.196	T	0.70073	-0.4972	10	0.87932	D	0	.	14.0814	0.64925	0.0:0.0:1.0:0.0	.	118;118	Q6FG59;Q16543	.;CDC37_HUMAN	M	118	ENSP00000222005:T118M	ENSP00000222005:T118M	T	-	2	0	CDC37	10367629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.983000	0.93477	1.969000	0.57287	0.555000	0.69702	ACG		TCGA-HZ-A8P1-01A-11D-A377-08	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	0	0	0	9	445	0	111	1	9.976085e-01	22	522	0	111	2		0	0	0	0	0	2	1	0.993960	9	439	0	111	2		0	0	0	0	111	2	-3.132882	1	1	121412	1	30	1	0	0	0	2.080911	0	0.670000	1.880000	0.670000	0.050000	2.000000e-02	0.110000	0.060000	0.065378	0.050000	0	3.000000e-02	0.090000
OR10H4	126541	broad.mit.edu	37	19	16060573	16060573	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4			17					TGGTGGTCACGCACTATAGTT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000322107.1	1	1	hg19	CCDS32941.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1	0	0	0	15	467	0	246		0	0	0	0	246	2		0	0	0	0	0	2	1	0.999858	15	459	0	245	2		0	0	0	0	246	2	-3.342193	1	1	121412	6	40	1	0	0	0	2.080911	0	0.670000	1.880000	0.670000	0.090000	4.000000e-02	0.150000	0.100000	0.098562	0.090000	0	6.000000e-02	0.120000
ZNF681	148213	broad.mit.edu	37	19	23927502	23927502	+	Missense_Mutation	SNP	G	G	A	rs150717337	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:23927502G>A	ENST00000402377.3	-	4	991	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	ZNF681_ENST00000395385.3_Missense_Mutation_p.R215C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681			21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)			CATTCTTCACGTTTGTAGGGA	0.363000																								0							SO:0001583	missense			ENST00000402377.3	1	0	hg19	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.415996	0.00191	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.04083	3.71;3.71	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.00440	0.0014	N	0.00000	-3.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	9	0.02654	T	1	.	3.8893	0.09111	0.6556:0.0:0.1587:0.1857	.	284	Q96N22	ZN681_HUMAN	C	284;215	ENSP00000384000:R284C;ENSP00000378783:R215C	ENSP00000378783:R215C	R	-	1	0	ZNF681	23719342	0.946000	0.32159	0.000000	0.03702	0.000000	0.00434	3.279000	0.51670	-2.305000	0.00654	-1.745000	0.00682	CGT		TCGA-HZ-A8P1-01A-11D-A377-08	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	1	0	1	108	189	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	1.000000	106	188	0	144	2		0	0	0	0	144	2	-13.915720	1	1	121412	4	38	1	0	0	0	2.080911	0	0.670000	1.880000	0.670000	0.990000	9.200000e-01	1.000000	1.000000	0.993793	0.990000	1	9.900000e-01	1.000000
PPP2R1A	5518	broad.mit.edu	37	19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha			135					TACCTGCACCGCATGACTACG	0.572000			Mis		clear cell ovarian carcinoma										Dom?	yes		19	19q13.41	5518	protein phosphatase 2, regulatory subunit A, alpha		E	0							SO:0001583	missense			ENST00000322088.6	0	1	hg19	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118398	0.77323	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.55052	0.54;0.54	4.67	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.40144	N	0.001161	T	0.79621	0.4477	H	0.96662	3.86	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84438	0.0581	10	0.87932	D	0	-9.5593	10.7389	0.46141	0.0931:0.0:0.9069:0.0	.	443;498	F5H3X9;P30153	.;2AAA_HUMAN	H	488;418;498;65;443	ENSP00000324804:R498H;ENSP00000415067:R443H	ENSP00000324804:R498H	R	+	2	0	PPP2R1A	57416173	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.837000	0.92110	1.325000	0.45301	0.655000	0.94253	CGC		TCGA-HZ-A8P1-01A-11D-A377-08	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	0	0	0	7	352	0	106	0	9.979717e-01	0	614	0	106	2		0	0	0	0	0	2	1	0.979666	7	346	0	105	2		0	0	0	0	106	2	-2.287558	0	1	0	0		1	1	2	3	2.107334	0	0.670000	1.880000	0.671102	0.050000	2.000000e-02	0.120000	0.060000	0.066318	0.050000	0	3.000000e-02	0.090000
ZNF761	388561	broad.mit.edu	37	19	53960395	53960395	+	RNA	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53960395G>A	ENST00000454407.1	+	0	3087							Q86XN6	ZN761_HUMAN	zinc finger protein 761			30					GCAATCCATGGTGTAGGGAAA	0.413000																								0											ENST00000454407.1	1	1	hg19																																																																																					TCGA-HZ-A8P1-01A-11D-A377-08	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	27	89	0	66	1	9.803623e-01	14	10	0	66	2		0	0	0	0	0	2	1	1.000000	27	88	0	66	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	1	2	3	2.107334	0	0.670000	1.880000	0.671102	0.690000	4.800000e-01	0.950000	0.700000	0.707293	0.690000	0	5.800000e-01	0.820000
ZSCAN1	284312	broad.mit.edu	37	19	58549369	58549369	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000391700.1_Silent_p.A55A|ZSCAN1_ENST00000601162.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1			48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)			CGCACCTCGCGCTGGGCCAGC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000282326.1	1	1	hg19	CCDS12969.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	0	27	94	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	26	90	0	26	2		0	0	0	0	27	2	-20.000000	1	1	0	0		1	1	2	3	2.105595	0	0.670000	1.880000	0.671102	0.660000	4.600000e-01	0.910000	0.660000	0.678897	0.660000	0	5.600000e-01	0.790000
NBPF14	25832	broad.mit.edu	37	1	148017611	148017611	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14			42	all_hematologic(923;0.032)				GAGTCGAATAACCTTCATCCC	0.493000																								0							SO:0001819	synonymous_variant			ENST00000369219.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	0.613	-0.824159	0.02755	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	2	.	.	.	.	.	.	.	.	.	.	.	A	230;235;235;235;235;235;235;235	.	.	V	-	2	0	NBPF14	146484235	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	0.794000	0.26958	-0.557000	0.06126	-0.558000	0.04189	GTT		TCGA-HZ-A8P1-01A-11D-A377-08	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	213	2121	1	494	0	0	0	1	1	494	2		0	0	0	0	0	2	1	1.000000	84	362	1	990	4		0	0	0	1	494	2	-20.000000	1	1	0	0		1	1	2	3	2.790314	1	0.670000	1.880000	0.752809	0.350000	3.000000e-01	0.410000	0.360000	0.365018	0.350000	0	3.300000e-01	0.390000
USH2A	7399	broad.mit.edu	37	1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000307340.3	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	USH2A_ENST00000366943.2_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)			527					GGTAGTAACTTCTTCCTTTCC	0.448000										HNSCC(13;0.011)														0							SO:0001583	missense			ENST00000307340.3	1	1	hg19	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823185	0.32237	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.84	3.43	0.39272	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.755657	0.11112	N	0.598495	T	0.53642	0.1809	L	0.56396	1.775	0.33957	D	0.645209	B	0.32653	0.379	B	0.38378	0.272	T	0.56553	-0.7960	10	0.31617	T	0.26	.	12.7182	0.57127	0.0:0.0:0.2598:0.7402	.	2668	O75445	USH2A_HUMAN	G	2668	ENSP00000305941:E2668G;ENSP00000355910:E2668G	ENSP00000305941:E2668G	E	-	2	0	USH2A	214128611	1.000000	0.71417	0.178000	0.23040	0.663000	0.39108	3.614000	0.54160	0.422000	0.26005	0.533000	0.62120	GAA		TCGA-HZ-A8P1-01A-11D-A377-08	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	0	15	363	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	0.999866	14	359	0	113	2		0	0	0	0	114	2	-15.787510	1	1	0	0		1	1	2	3	2.806879	1	0.670000	1.880000	0.752809	0.150000	8.000000e-02	0.250000	0.150000	0.167640	0.150000	0	1.200000e-01	0.210000
ESRRG	2104	broad.mit.edu	37	1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000408911.3	-	5	968	c.815C>T	c.(814-816)gCc>gTc	p.A272V	ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	p.A272V(1)		49				Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000408911.3	0	1	hg19	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003172	0.54254	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.75085	2.285	0.80722	D	1	B;D;D	0.89917	0.322;1.0;0.999	B;D;D	0.68192	0.199;0.949;0.956	D	0.98206	1.0470	10	0.87932	D	0	.	14.6034	0.68460	0.0705:0.0:0.9295:0.0	.	210;284;272	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	249;249;284;272;249;249;249;249;249;256;210;249;249;249;249	ENSP00000355225:A249V;ENSP00000355907:A249V;ENSP00000355904:A284V;ENSP00000386171:A272V;ENSP00000352077:A249V;ENSP00000354584:A249V;ENSP00000355905:A249V;ENSP00000353108:A249V;ENSP00000419594:A249V;ENSP00000375761:A256V;ENSP00000418629:A210V;ENSP00000419155:A249V;ENSP00000417374:A249V;ENSP00000419514:A249V	ENSP00000346386:A249V	A	-	2	0	ESRRG	214804231	1.000000	0.71417	0.812000	0.32479	0.762000	0.43233	9.869000	0.99810	1.339000	0.45563	0.655000	0.94253	GCC		TCGA-HZ-A8P1-01A-11D-A377-08	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	0	0	0	6	475	0	106		0	0	0	0	106	2		0	0	0	0	0	2	1	0.963803	6	469	0	105	2		0	0	0	0	106	2	-2.232727	0	1	0	0		1	1	2	3	2.806879	1	0.670000	1.880000	0.752809	0.050000	0	0.110000	0.060000	0.057059	0.050000	0	2.000000e-02	0.080000
TLR5	7100	broad.mit.edu	37	1	223285330	223285330	+	Silent	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5			32					AAAGTTCCCCCAGAAGGTTAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000540964.1	1	1	hg19	CCDS31033.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	149	465	0	202	1	4.501699e-01	3	3	0	202	2		0	0	0	0	0	2	1	1.000000	147	461	0	200	2		0	0	0	0	202	2	-5.126123	1	1	0	0		1	1	2	3	2.806879	1	0.670000	1.880000	0.752809	0.960000	8.300000e-01	1.000000	1.000000	0.954357	0.960000	1	8.900000e-01	1.000000
EPHB2	2048	broad.mit.edu	37	1	23240039	23240039	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374632.3_Silent_p.N980N|EPHB2_ENST00000374627.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2			56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)			CGCAGATGAACCAGATTCAGT	0.587000																								0							SO:0001819	synonymous_variant			ENST00000400191.3	1	1	hg19																																																																																					TCGA-HZ-A8P1-01A-11D-A377-08	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	1	51	69	0	44	0	7.022916e-01	1	4	0	44	2		0	0	0	0	0	2	1	1.000000	51	68	0	44	2		0	0	0	0	44	2	-20.000000	1	1	0	0		1	0	1	1	1.448612	1	0.670000	1.880000	0.503759	0.820000	6.600000e-01	0.970000	0.840000	0.832208	0.820000	0	7.400000e-01	0.920000
MATN1	4146	broad.mit.edu	37	1	31191606	31191606	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein			12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)			TGGAACTTCCTGGACAGCTTC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000373765.4	1	1	hg19	CCDS336.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	1	0	0	32	36	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	1.000000	32	36	0	30	2		0	0	0	0	30	2	-20.000000	1	1	121232	3	38	1	0	1	1	1.448612	1	0.670000	1.880000	0.503759	0.880000	6.800000e-01	1.000000	0.920000	0.874151	0.880000	1	7.800000e-01	0.960000
CYP4X1	260293	broad.mit.edu	37	1	47514244	47514244	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1			17					TAGGGATCACCGTGGTTCTTA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000371901.3	1	1	hg19	CCDS544.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	0	0	0	13	528	0	298	0	7.109197e-04	0	2	0	298	2		0	0	0	0	0	2	1	0.999487	13	519	0	296	2		0	0	0	0	298	2	-1.866828	0	1	121412	1	43	1	0	1	1	1.448612	1	0.670000	1.880000	0.503759	0.040000	2.000000e-02	0.080000	0.050000	0.051079	0.040000	0	3.000000e-02	0.060000
ACADM	34	broad.mit.edu	37	1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370841.4	+	11	1545	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain			18				Flavin adenine dinucleotide(DB03147)	TCAGTTAGCTACTGATGCTGT	0.393000																								0							SO:0001583	missense			ENST00000370841.4	1	1	hg19	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475492	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.21	-0.354	0.12591	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.749864	0.13164	N	0.408858	D	0.84479	0.5481	L	0.39514	1.22	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.003;0.005;0.007;0.002;0.005	T	0.76751	-0.2844	10	0.56958	D	0.05	.	6.9288	0.24429	0.3076:0.0:0.0733:0.619	.	334;284;403;374;370	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	A	370;403;334;181;374	ENSP00000359878:T370A;ENSP00000359871:T403A;ENSP00000442324:T334A;ENSP00000446176:T181A;ENSP00000409612:T374A	ENSP00000359871:T403A	T	+	1	0	ACADM	75999557	0.000000	0.05858	0.515000	0.27774	0.808000	0.45660	-2.126000	0.01316	-0.251000	0.09542	0.482000	0.46254	ACT		TCGA-HZ-A8P1-01A-11D-A377-08	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1	1	0	1	120	159	0	147	1	1	30	11	0	147	2		0	0	0	0	0	2	1	1.000000	119	158	0	147	2		0	0	0	0	147	2	-20.000000	1	1	0	0		1	0	1	1	1.448612	1	0.670000	1.880000	0.503759	0.840000	7.300000e-01	0.960000	0.850000	0.850791	0.840000	0	7.800000e-01	0.910000
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1			14					AATGGTGAGACGTAGCTGGGT	0.418000																								0							SO:0001583	missense			ENST00000340345.4	1	1	hg19	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC		TCGA-HZ-A8P1-01A-11D-A377-08	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	1	0	1	151	320	0	199		0	0	0	0	199	2		0	0	0	0	0	2	1	1.000000	149	315	0	199	2		0	0	0	0	199	2	-20.000000	1	1	120822	2	38	1	1	2	3	2.100437	0	0.670000	1.880000	0.671102	0.950000	8.300000e-01	1.000000	1.000000	0.950356	0.950000	1	8.900000e-01	1.000000
LRP1B	53353	broad.mit.edu	37	2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		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)			CCAATCCAATCGACAGCAAGT	0.373000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001583	missense			ENST00000389484.3	0	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839800	0.97009	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98876	-5.2	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.90369	3.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99146	1.0857	10	0.87932	D	0	.	19.5951	0.95533	0.0:1.0:0.0:0.0	.	3095	Q9NZR2	LRP1B_HUMAN	N	3095;3033	ENSP00000374135:D3095N	ENSP00000374135:D3095N	D	-	1	0	LRP1B	140959524	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.501000	0.81600	2.693000	0.91896	0.650000	0.86243	GAT		TCGA-HZ-A8P1-01A-11D-A377-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	5	360	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	0.936139	5	357	0	119	2		0	0	0	0	119	2	-3.030756	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.040000	0	0.090000	0.040000	0.048246	0.040000	0	2.000000e-02	0.070000
GALNT13	114805	broad.mit.edu	37	2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13			65					TGCACGTTAGGATGGCTGGAG	0.473000																								0							SO:0001583	missense			ENST00000392825.3	0	1	hg19	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189933	0.94923	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80091	-0.1527	10	0.66056	D	0.02	.	19.0704	0.93134	0.0:0.0:1.0:0.0	.	216;216;216	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	E	216	ENSP00000376570:G216E;ENSP00000387239:G216E	ENSP00000376570:G216E	G	+	2	0	GALNT13	154807625	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.864000	0.99589	2.747000	0.94245	0.591000	0.81541	GGA		TCGA-HZ-A8P1-01A-11D-A377-08	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	0	0	0	5	166	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.937511	5	165	0	57	2		0	0	0	0	58	2	-3.606342	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.090000	3.000000e-02	0.190000	0.080000	0.102540	0.090000	0	5.000000e-02	0.140000
IFIH1	64135	broad.mit.edu	37	2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1			39					tactcatcatcaccaccctca	0.328000																								0							SO:0001583	missense			ENST00000263642.2	0	1	hg19	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461433	0.43736	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.07	2.26	0.28386	.	0.611706	0.14567	N	0.311694	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	1	P	0.44090	0.826	B	0.41088	0.347	T	0.19679	-1.0298	10	0.48119	T	0.1	-4.9411	10.219	0.43186	0.0:0.7829:0.0:0.2171	.	650	Q9BYX4	IFIH1_HUMAN	Y	650	ENSP00000263642:D650Y	ENSP00000263642:D650Y	D	-	1	0	IFIH1	162842267	0.001000	0.12720	0.003000	0.11579	0.450000	0.32258	0.372000	0.20467	0.728000	0.32382	0.655000	0.94253	GAT		TCGA-HZ-A8P1-01A-11D-A377-08	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	0	0	0	5	218	0	101	0	2.962217e-01	1	40	0	101	2		0	0	0	0	0	2	1	0.936005	5	215	0	100	2		0	0	0	0	101	2	-3.319335	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.060000	2.000000e-02	0.150000	0.060000	0.078895	0.060000	0	4.000000e-02	0.110000
TTN	7273	broad.mit.edu	37	2	179578044	179578044	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:179578044G>A	ENST00000591111.1	-	91	26090	c.25866C>T	c.(25864-25866)tcC>tcT	p.S8622S	TTN_ENST00000342992.6_Silent_p.S7695S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.S8939S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTGAGGAGCCGGATAGACCAT	0.393000																								0							SO:0001819	synonymous_variant			ENST00000591111.1	0	1	hg19																																																																																					TCGA-HZ-A8P1-01A-11D-A377-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	3	36	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	0.812658	3	36	0	27	2		0	0	0	0	28	2	-4.247734	1	1	119560	2	33	1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.260000	7.000000e-02	0.570000	0.230000	0.285671	0.260000	0	1.400000e-01	0.410000
ANKAR	150709	broad.mit.edu	37	2	190597916	190597916	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000313581.4_Silent_p.E1128E|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing			46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		AAGGATTTGAATATGCTGATG	0.333000																								0							SO:0001819	synonymous_variant			ENST00000520309.1	1	1	hg19	CCDS33351.2																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	1	0	1	89	162	0	88	0	1.274470e-01	0	2	0	88	2		0	0	0	0	0	2	1	1.000000	87	160	0	88	2		0	0	0	0	88	2	-20.000000	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.990000	8.700000e-01	1.000000	1.000000	0.984935	0.990000	1	9.500000e-01	1.000000
C2orf88	84281	broad.mit.edu	37	2	191064754	191064754	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000409870.1_Silent_p.T56T|C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000396974.2_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88			3					GGACCAATACTGTGATCTTGG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000340623.4	1	1	hg19	CCDS42792.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	1	0	1	171	383	0	196	1	9.989836e-01	4	22	0	196	2		0	0	0	0	0	2	1	1.000000	168	378	0	196	2		0	0	0	0	196	2	-20.000000	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.910000	7.900000e-01	1.000000	1.000000	0.914285	0.910000	1	8.500000e-01	0.970000
ANKRD44	91526	broad.mit.edu	37	2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44			45			OV - Ovarian serous cystadenocarcinoma(117;0.246)		CCATAGGCGGCAGCATAATGT	0.408000																								0							SO:0001583	missense			ENST00000328737.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	26.3	4.725981	0.89298	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72942	-0.37;-0.33;-0.37;-0.37;-0.33;-0.37;-0.37;-0.7	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.80183	2.485	0.52501	D	0.999952	D;D;D	0.76494	0.979;0.998;0.999	D;D;D	0.85130	0.923;0.997;0.997	D	0.86497	0.1801	10	0.72032	D	0.01	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	468;540;558	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	355;532;515;515;515;215;540;468	ENSP00000403415:A355T;ENSP00000282272:A532T;ENSP00000331516:A515T;ENSP00000402420:A515T;ENSP00000338794:A515T;ENSP00000416319:A215T;ENSP00000387141:A540T;ENSP00000437825:A468T	ENSP00000282272:A532T	A	-	1	0	ANKRD44	197651704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.685000	0.54678	2.885000	0.99019	0.655000	0.94253	GCC		TCGA-HZ-A8P1-01A-11D-A377-08	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	0	0	0	4	138	1	51	0	1.304540e-02	1	4	1	51	2		0	0	0	0	0	2	0	0.051334	4	137	1	49	11		0	0	0	1	51	2	-3.318486	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.090000	2.000000e-02	0.200000	0.080000	0.102584	0.090000	0	5.000000e-02	0.140000
SATB2	23314	broad.mit.edu	37	2	200213649	200213649	+	Silent	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000417098.1	-	7	1764	c.948G>T	c.(946-948)ctG>ctT	p.L316L	SATB2_ENST00000443023.1_Silent_p.L257L|SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2			62					GTTGGTTTATCAGATGGGCCA	0.527000													Colon(30;262 767 11040 24421 36230)											0							SO:0001819	synonymous_variant			ENST00000417098.1	1	1	hg19	CCDS2327.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	0	0	0	14	379	0	163	0	4.471588e-03	0	3	0	163	2		0	0	0	0	0	2	1	0.999748	13	376	0	162	2		0	0	0	0	163	2	-3.559306	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.100000	5.000000e-02	0.170000	0.100000	0.112453	0.100000	0	7.000000e-02	0.140000
SGOL2	151246	broad.mit.edu	37	2	201436187	201436187	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:201436187G>A	ENST00000357799.4	+	7	1216	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)			46					AGTGAAGTCAGCAAAATTGTC	0.338000																								0							SO:0001583	missense			ENST00000357799.4	0	1	hg19	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256435	0.39896	.	.	ENSG00000163535	ENST00000357799	T	0.17854	2.25	5.15	4.27	0.50696	.	0.291860	0.35495	N	0.003171	T	0.34774	0.0909	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67382	0.951;0.951;0.951	T	0.08006	-1.0743	10	0.62326	D	0.03	-1.2818	12.1889	0.54257	0.0788:0.0:0.9212:0.0	.	373;373;373	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	373	ENSP00000350447:S373N	ENSP00000350447:S373N	S	+	2	0	SGOL2	201144432	0.995000	0.38212	0.175000	0.22980	0.321000	0.28281	2.428000	0.44749	1.538000	0.49270	0.585000	0.79938	AGC		TCGA-HZ-A8P1-01A-11D-A377-08	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	0	0	4	240	0	107	0	1.453317e-03	0	3	0	107	2		0	0	0	0	0	2	1	0.891111	4	240	0	107	2		0	0	0	0	107	2	-5.323035	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.050000	0	0.120000	0.050000	0.060029	0.050000	0	2.000000e-02	0.090000
SPAG16	79582	broad.mit.edu	37	2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000331683.5	+	5	586	c.491A>C	c.(490-492)aAc>aCc	p.N164T	SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000413312.1_Missense_Mutation_p.N133T|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16			56		Renal(323;0.00461)			GAAAATGAGAACAAAAATTTA	0.313000																								0							SO:0001583	missense			ENST00000331683.5	1	1	hg19	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448286	0.63178	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.56275	0.53;0.47	5.65	4.48	0.54585	.	0.190601	0.48767	D	0.000179	T	0.64338	0.2589	M	0.62723	1.935	0.33798	D	0.626297	B;D;P;D;D	0.71674	0.421;0.989;0.668;0.993;0.998	B;P;B;P;D	0.65684	0.202;0.883;0.306;0.823;0.937	T	0.72491	-0.4277	10	0.42905	T	0.14	.	9.0056	0.36109	0.8356:0.0:0.0:0.1644	.	70;133;104;164;164	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	T	164;164;133;164;164;70	ENSP00000332592:N164T;ENSP00000363428:N70T	ENSP00000272898:N164T	N	+	2	0	SPAG16	213890280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.685000	0.54678	0.941000	0.37499	0.528000	0.53228	AAC		TCGA-HZ-A8P1-01A-11D-A377-08	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	1	0	1	78	146	0	84	1	1	23	51	0	84	2		0	0	0	0	0	2	1	1.000000	76	144	0	84	2		0	0	0	0	84	2	-20.000000	1	1	0	0		1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.990000	8.400000e-01	1.000000	1.000000	0.977318	0.990000	1	9.300000e-01	1.000000
TRPM8	79054	broad.mit.edu	37	2	234875381	234875381	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8			66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527000																								0							SO:0001819	synonymous_variant			ENST00000324695.4	1	1	hg19	CCDS33407.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	1	0	0	40	64	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1.000000	40	64	0	28	2		0	0	0	0	29	2	-20.000000	1	1	121358	2	31	1	0	0	0	2.058839	0	0.670000	1.880000	0.667774	0.990000	8.600000e-01	1.000000	1.000000	0.989303	0.990000	1	9.900000e-01	1.000000
PSME4	23198	broad.mit.edu	37	2	54093911	54093911	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		CATTTAGATGTGCACTGAGAT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000404125.1	1	1	hg19	CCDS33197.2																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	44	74	0	41	1	1	44	64	0	41	2		0	0	0	0	0	2	1	1.000000	42	72	0	41	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	0	0	0	2.090094	0	0.670000	1.880000	0.670000	0.990000	8.500000e-01	1.000000	1.000000	0.986742	0.990000	1	9.700000e-01	1.000000
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated			68			Epithelial(53;0.227)		GGGCCTTGTGCCAGTTGAAGA	0.577000																								0							SO:0001583	missense			ENST00000495514.1	0	1	hg19	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA		TCGA-HZ-A8P1-01A-11D-A377-08	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	0	0	0	6	652	0	304	0	3.371786e-02	0	26	0	304	2		0	0	0	0	0	2	1	0.962867	6	639	0	302	2		0	0	0	0	304	2	-1.939586	0	1	0	0		1	0	1	1	1.418376	1	0.670000	1.880000	0.503759	0.010000	0	0.040000	0.020000	0.020895	0.010000	0	0	0.030000
RPSA	3921	broad.mit.edu	37	3	39453425	39453425	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.V227V	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA			7					AGAAGGCAGTGACCAAGGAGG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000301821.6	1	1	hg19	CCDS2686.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	0	0	0	16	172	1	85	0	9.997641e-01	0	1691	1	85	52		0	0	0	0	0	2	1	0.936369	14	165	1	86	9		0	0	0	1	85	2	-19.990670	1	1	0	0		1	0	1	1	1.431019	1	0.670000	1.880000	0.503759	0.160000	9.000000e-02	0.260000	0.170000	0.176680	0.160000	0	1.300000e-01	0.220000
PBRM1	55193	broad.mit.edu	37	3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000296302.7	-	14	1620	c.1619G>C	c.(1618-1620)aGa>aCa	p.R540T	PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000356770.4_Missense_Mutation_p.R508T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T			Q86U86	PB1_HUMAN	polybromo 1			335					ACAAAGTCTTCTGCCTGAACC	0.368000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast										Rec	yes		3	3p21	55193	polybromo 1		E	0							SO:0001583	missense			ENST00000296302.7	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.0	4.968582	0.92855	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.84	5.84	0.93424	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.997;0.994;0.999;1.0;0.996;0.996	T	0.73626	-0.3923	10	0.87932	D	0	-3.581	20.139	0.98050	0.0:1.0:0.0:0.0	.	540;540;540;540;555;555;540;508;540	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	508;540;540;540;540;540;555;555;540;499	ENSP00000349213:R508T;ENSP00000378307:R540T;ENSP00000296302:R540T;ENSP00000338302:R540T;ENSP00000386593:R540T;ENSP00000386529:R540T;ENSP00000386643:R555T;ENSP00000386601:R555T;ENSP00000387775:R540T;ENSP00000397662:R499T	ENSP00000296302:R540T	R	-	2	0	PBRM1	52626517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	AGA		TCGA-HZ-A8P1-01A-11D-A377-08	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	0	0	0	7	221	0	101	0	2.464758e-02	0	7	0	101	2	1	9.998402e-01	12	617	0	666	2	1	0.980783	7	220	0	101	2		0	0	0	0	101	2	-8.537223	1	0	0	0		1	0	1	1	1.418376	1	0.670000	1.880000	0.503759	0.060000	2.000000e-02	0.120000	0.060000	0.068740	0.060000	0	3.000000e-02	0.090000
NPY1R	4886	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1			30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)			GTTAAAGATGGTAAGAGGGAG	0.428000																								0							SO:0001583	missense			ENST00000296533.2	1	1	hg19	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729970	0.30684	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.54479	0.57;0.57;1.24	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.544480	0.19310	N	0.117412	T	0.50309	0.1608	L	0.47016	1.485	0.40849	D	0.983732	P	0.36027	0.533	B	0.40038	0.317	T	0.49495	-0.8934	10	0.39692	T	0.17	.	13.1127	0.59283	0.073:0.0:0.927:0.0	.	280	P25929	NPY1R_HUMAN	I	280;37;37	ENSP00000354652:T280I;ENSP00000427284:T37I;ENSP00000422963:T37I	ENSP00000354652:T280I	T	-	2	0	NPY1R	164466221	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	2.769000	0.47654	2.702000	0.92279	0.563000	0.77884	ACC		TCGA-HZ-A8P1-01A-11D-A377-08	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	1	0	1	82	141	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1.000000	81	140	0	111	2		0	0	0	0	111	2	-20.000000	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.990000	9.100000e-01	1.000000	1.000000	0.993211	0.990000	1	9.900000e-01	1.000000
WDR17	116966	broad.mit.edu	37	4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000280190.4	+	14	2010	c.1854T>A	c.(1852-1854)aaT>aaA	p.N618K	WDR17_ENST00000507824.2_Missense_Mutation_p.N601K|WDR17_ENST00000393643.2_Missense_Mutation_p.N594K|WDR17_ENST00000508596.1_Missense_Mutation_p.N594K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17			92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)			TAATGTGGAATACTGAGATTC	0.413000																								0							SO:0001583	missense			ENST00000280190.4	1	1	hg19	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936431	0.73442	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.14;3.49;0.14	5.77	-5.17	0.02849	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.81682	2.555	0.49299	D	0.999775	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75926	-0.3145	10	0.72032	D	0.01	-32.5565	14.3103	0.66413	0.0:0.474:0.0:0.526	.	594;618	E7EQX0;Q8IZU2	.;WDR17_HUMAN	K	594;594;618;601	ENSP00000422763:N594K;ENSP00000377258:N594K;ENSP00000280190:N618K	ENSP00000280190:N618K	N	+	3	2	WDR17	177306365	0.783000	0.28701	0.914000	0.36105	0.839000	0.47603	-0.154000	0.10130	-0.688000	0.05155	-0.264000	0.10439	AAT		TCGA-HZ-A8P1-01A-11D-A377-08	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	1	190	341	0	176	0	4.516938e-01	1	3	0	176	2		0	0	0	0	0	2	1	1.000000	187	336	0	175	2		0	0	0	0	176	2	-20.000000	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.990000	9.400000e-01	1.000000	1.000000	0.996286	0.990000	1	9.900000e-01	1.000000
TLR3	7098	broad.mit.edu	37	4	187005297	187005297	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000296795.3	+	4	2561	c.2457C>T	c.(2455-2457)caC>caT	p.H819H	TLR3_ENST00000504367.1_Silent_p.H542H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3			29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)			TTATAACACACCATCTATTAA	0.299000																								0							SO:0001819	synonymous_variant			ENST00000296795.3	1	1	hg19	CCDS3846.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	0	77	147	0	99	0	9.492974e-01	0	12	0	99	2		0	0	0	0	0	2	1	1.000000	74	145	0	99	2		0	0	0	0	99	2	-20.000000	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.990000	8.400000e-01	1.000000	1.000000	0.976064	0.990000	1	9.300000e-01	1.000000
TXK	7294	broad.mit.edu	37	4	48069714	48069714	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase			25					TAGGGCGGCCTTCAGGTTTCT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000264316.4	1	1	hg19	CCDS3480.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	1	0	1	101	181	0	100	0	0	0	1	0	100	2		0	0	0	0	0	2	1	1.000000	100	177	0	98	2		0	0	0	0	100	2	-20.000000	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.990000	9.000000e-01	1.000000	1.000000	0.991112	0.990000	1	9.800000e-01	1.000000
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	p.R170W(2)		42					TGTAGATTTTCGGTACGTCAC	0.597000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000507866.2	1	1	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	SORCS2	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG		TCGA-HZ-A8P1-01A-11D-A377-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1	28	78	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	1.000000	28	77	0	36	2		0	0	0	0	36	2	-4.648455	1	1	121006	1	32	1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.790000	5.500000e-01	1.000000	1.000000	0.796694	0.790000	0	6.600000e-01	0.930000
SEC31A	22872	broad.mit.edu	37	4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000395310.2	-	26	3648	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000432794.1_Missense_Mutation_p.K1169E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)		SEC31A/ALK(3)|SEC31A/JAK2(4)	1		Hepatocellular(203;0.114)			TCCCTAAGTTTATCATACAGA	0.338000																								0							SO:0001583	missense			ENST00000395310.2	1	1	hg19	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.839843|4.839843	0.91117|0.91117	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40756	.|1.17;1.02;2.26;2.22;1.07;2.15;2.26;1.17;1.07;1.02;1.02;2.22;2.26;3.05;2.14	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.85462|0.85462	2.755|2.755	0.36891|0.36891	D|D	0.889912|0.889912	.|D;D;D;D;D;D;D;D;D	.|0.76494	.|0.998;0.997;0.998;0.999;0.998;0.999;0.998;0.984;0.998	.|D;D;D;D;D;D;D;P;D	.|0.85130	.|0.993;0.98;0.994;0.997;0.994;0.996;0.993;0.839;0.997	T|T	0.76567|0.76567	-0.2912|-0.2912	5|10	.|0.48119	.|T	.|0.1	-14.366|-14.366	15.8221|15.8221	0.78662|0.78662	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1136;1102;1003;1117;1042;1141;1156;905;1169	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	M|E	318|1117;1003;1156;1136;1042;1169;1156;1117;1042;1187;1003;1141;1156;905;1102	.|ENSP00000337602:K1117E;ENSP00000426886:K1003E;ENSP00000378721:K1156E;ENSP00000408027:K1136E;ENSP00000426569:K1042E;ENSP00000407944:K1169E;ENSP00000400926:K1156E;ENSP00000325087:K1117E;ENSP00000309070:K1042E;ENSP00000421633:K1187E;ENSP00000421464:K1003E;ENSP00000424635:K1141E;ENSP00000347329:K1156E;ENSP00000264405:K905E;ENSP00000424451:K1102E	.|ENSP00000264405:K905E	I|K	-|-	3|1	3|0	SEC31A|SEC31A	83961231|83961231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.698000|7.698000	0.84413|0.84413	2.139000|2.139000	0.66308|0.66308	0.533000|0.533000	0.62120|0.62120	ATA|AAA		TCGA-HZ-A8P1-01A-11D-A377-08	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	0	0	0	19	711	1	272	1	8.624196e-01	13	382	1	272	7		0	0	0	0	0	2	1	0.999989	19	701	0	271	2		0	0	0	1	272	2	-15.402250	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.070000	4.000000e-02	0.120000	0.080000	0.081779	0.070000	0	5.000000e-02	0.100000
SLC10A6	345274	broad.mit.edu	37	4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6			9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)			CTATTCACATGAAGTGATGTG	0.542000																								0							SO:0001583	missense			ENST00000273905.6	1	1	hg19	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256182	0.39896	.	.	ENSG00000145283	ENST00000273905	T	0.09445	2.98	4.83	3.99	0.46301	.	.	.	.	.	T	0.10766	0.0263	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16988	-1.0384	9	0.49607	T	0.09	6.3961	8.9158	0.35581	0.0998:0.0:0.9002:0.0	.	375	Q3KNW5	SOAT_HUMAN	L	375	ENSP00000273905:S375L	ENSP00000273905:S375L	S	-	2	0	SLC10A6	87963875	0.814000	0.29104	0.014000	0.15608	0.095000	0.18619	2.377000	0.44300	1.278000	0.44430	-0.236000	0.12185	TCA		TCGA-HZ-A8P1-01A-11D-A377-08	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	1	0	1	45	134	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	43	132	0	80	2		0	0	0	0	80	2	-20.000000	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.750000	5.700000e-01	0.960000	0.750000	0.758787	0.750000	0	6.500000e-01	0.860000
PKD2	5311	broad.mit.edu	37	4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000508588.1	+	6	874	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000237596.2_Missense_Mutation_p.R742Q			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)			36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)			GACGAACTTCGACAAGATCTC	0.403000																								0							SO:0001583	missense			ENST00000508588.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.2	4.381910	0.82792	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.56103	0.48;0.48;0.48	5.89	5.03	0.67393	EF-hand-like domain (1);	0.062020	0.64402	D	0.000003	T	0.69584	0.3127	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70146	-0.4952	10	0.40728	T	0.16	-9.2108	16.2716	0.82624	0.0:0.0:0.8663:0.1336	.	742	Q13563	PKD2_HUMAN	Q	742;160;160	ENSP00000237596:R742Q;ENSP00000427131:R160Q;ENSP00000425289:R160Q	ENSP00000237596:R742Q	R	+	2	0	PKD2	89205656	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.580000	0.82523	1.454000	0.47793	0.655000	0.94253	CGA		TCGA-HZ-A8P1-01A-11D-A377-08	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	1	0	1	80	203	0	118	1	9.997635e-01	6	29	0	118	2		0	0	0	0	0	2	1	1.000000	80	201	0	118	2		0	0	0	0	118	2	-6.576953	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.840000	6.900000e-01	1.000000	0.840000	0.848635	0.840000	0	7.600000e-01	0.930000
PDLIM5	10611	broad.mit.edu	37	4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000317968.4	+	3	246	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5			22		Hepatocellular(203;0.114)			AAAGATGGCGGCAAGGCAGCC	0.348000																								0							SO:0001583	missense			ENST00000317968.4	0	1	hg19	CCDS3641.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.962750|4.962750	0.92791|0.92791	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;1.8;1.8;0.63;0.63;0.63;0.63	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79902|0.79902	0.4526|0.4526	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.991	.|D;D;D;D;D;D	.|0.97110	.|0.996;1.0;0.998;0.991;0.999;0.982	D|D	0.84745|0.84745	0.0753|0.0753	5|10	.|0.72032	.|D	.|0.01	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37;37;37;37;37;37	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	T|D	5|37	.|ENSP00000398469:G37D;ENSP00000369527:G37D;ENSP00000322021:G37D;ENSP00000401579:G37D;ENSP00000439795:G37D;ENSP00000321746:G37D;ENSP00000424297:G37D;ENSP00000426804:G37D;ENSP00000424360:G37D	.|ENSP00000321746:G37D	A|G	+|+	1|2	0|0	PDLIM5|PDLIM5	95663911|95663911	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GCA|GGC		TCGA-HZ-A8P1-01A-11D-A377-08	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1	0	0	0	5	165	1	85	0	1.476399e-01	0	93	1	85	6		0	0	0	0	0	2	0	0.203792	5	165	1	84	9		0	0	0	1	85	2	-3.532681	1	1	121412	1	28	1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.090000	3.000000e-02	0.200000	0.090000	0.104184	0.090000	0	5.000000e-02	0.150000
METAP1	23173	broad.mit.edu	37	4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1			17					CACTTCATGTCTCAATTTTAA	0.458000																								0							SO:0001583	missense			ENST00000296411.6	1	1	hg19	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208029	0.39003	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.96	4.96	0.65561	.	0.167404	0.53938	D	0.000059	T	0.55609	0.1931	L	0.46157	1.445	0.58432	D	0.999998	B	0.28378	0.209	B	0.22880	0.042	T	0.52335	-0.8589	8	.	.	.	-12.7309	18.3944	0.90493	0.0:1.0:0.0:0.0	.	384	P53582	AMPM1_HUMAN	F	384;334;168;114	.	.	S	+	2	0	METAP1	100201481	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.563000	0.53784	2.561000	0.86390	0.655000	0.94253	TCT		TCGA-HZ-A8P1-01A-11D-A377-08	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	1	0	1	42	226	0	106	1	9.999338e-01	28	53	0	106	2		0	0	0	0	0	2	1	1.000000	42	223	0	106	2		0	0	0	0	106	2	-19.982440	1	1	0	0		1	1	2	3	2.106168	0	0.670000	1.880000	0.671102	0.460000	3.400000e-01	0.610000	0.470000	0.476124	0.460000	0	4.000000e-01	0.540000
SLC36A2	153201	broad.mit.edu	37	5	150715058	150715058	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2			33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	Cycloserine(DB00260)	TCAGAATCACCGTCTCATTGG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000335244.4	1	1	hg19	CCDS4315.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1	0	0	1	84	200	1	106		0	0	0	1	106	2		0	0	0	0	0	2	1	1.000000	83	190	1	106	11		0	0	0	1	106	2	-6.656074	1	1	121412	2	39	1	1	2	3	2.098526	0	0.670000	1.880000	0.671102	0.880000	7.200000e-01	1.000000	1.000000	0.885189	0.880000	1	8.000000e-01	0.970000
NAIP	4671	broad.mit.edu	37	5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000194097.4_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein			1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)			CTCTTCTTCTAGTTCCTTTGC	0.463000																								0							SO:0001583	missense			ENST00000517649.1	1	1	hg19	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	a	7.483	0.648990	0.14516	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.75154	-0.91;-0.91;-0.91	3.25	0.611	0.17586	.	2.100700	0.03038	U	0.152947	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.015;0.022	B;B	0.14023	0.003;0.01	T	0.47824	-0.9087	10	0.56958	D	0.05	.	4.4374	0.11557	0.6054:0.1923:0.0:0.2023	.	38;38	E7EQW0;Q13075	.;BIRC1_HUMAN	P	38	ENSP00000428657:L38P;ENSP00000443944:L38P;ENSP00000429545:L38P	ENSP00000443944:L38P	L	-	2	0	NAIP	70344386	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.847000	0.27696	0.117000	0.18138	0.352000	0.21897	CTA		TCGA-HZ-A8P1-01A-11D-A377-08	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	1	0	1	174	346	0	176	0	0	0	1	0	176	2		0	0	0	0	0	2	1	1.000000	171	339	0	176	2		0	0	0	0	176	2	-20.000000	1	1	0	0		1	1	2	3	2.098526	0	0.670000	1.880000	0.671102	0.990000	8.700000e-01	1.000000	1.000000	0.976720	0.990000	1	9.300000e-01	1.000000
EYS	346007	broad.mit.edu	37	6	66063349	66063349	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000370621.3	-	9	1986		c.e9+1		EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000503581.1_Splice_Site|EYS_ENST00000342421.5_Splice_Site			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)			69					TAAATTTGTTACCTGCAAATC	0.333000																								0							SO:0001630	splice_region_variant			ENST00000370621.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	8.880	0.951312	0.18431	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2851	0.43562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EYS	66120070	0.986000	0.35501	0.153000	0.22517	0.081000	0.17604	2.533000	0.45667	1.441000	0.47550	0.482000	0.46254	.		TCGA-HZ-A8P1-01A-11D-A377-08	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	93	151	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1.000000	93	148	0	87	2		0	0	0	0	87	2	-20.000000	1	1	0	0		1	0	0	0	2.061588	0	0.670000	1.880000	0.667774	0.990000	9.400000e-01	1.000000	1.000000	0.997017	0.990000	1	9.900000e-01	1.000000
BAI3	577	broad.mit.edu	37	6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3			210		all_lung(197;0.212)			ACAAGGTCAGCCCAAGCCAGT	0.368000																								0							SO:0001583	missense			ENST00000370598.1	0	1	hg19	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555672	0.45487	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.23	5.23	0.72850	.	0.059956	0.64402	D	0.000005	T	0.11750	0.0286	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.41860	0.368	T	0.03534	-1.1027	10	0.87932	D	0	.	19.1611	0.93533	0.0:1.0:0.0:0.0	.	162	O60242	BAI3_HUMAN	R	162	ENSP00000359630:S162R	ENSP00000359630:S162R	S	+	3	2	BAI3	69405774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.610000	0.88304	0.655000	0.94253	AGC		TCGA-HZ-A8P1-01A-11D-A377-08	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	0	0	0	5	389	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	0.934504	5	381	0	139	2		0	0	0	0	139	2	-3.022603	1	1	0	0		1	0	0	0	2.061588	0	0.670000	1.880000	0.667774	0.030000	0	0.090000	0.040000	0.044621	0.030000	0	1.000000e-02	0.060000
KCNQ5	56479	broad.mit.edu	37	6	73830223	73830223	+	Silent	SNP	C	C	T	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000370398.1	+	8	1252	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000342056.2_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y	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)	GGCGTAGTTACGCAGCTGATG	0.428000													GBM(142;1375 1859 14391 23261 44706)											0							SO:0001819	synonymous_variant			ENST00000370398.1	1	1	hg19	CCDS4976.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	0	14	183	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.999764	14	180	0	79	2		0	0	0	0	79	2	-18.202100	1	1	121406	9	40	1	0	0	0	2.061588	0	0.670000	1.880000	0.667774	0.210000	1.200000e-01	0.330000	0.210000	0.222938	0.210000	0	1.600000e-01	0.280000
LRRC4	64101	broad.mit.edu	37	7	127668984	127668984	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4			26					CTTCGTCCACCTGGATTATCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000249363.3	1	1	hg19	CCDS5799.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	1	0	1	37	50	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1.000000	37	49	0	54	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	0	0	0	2.082586	0	0.670000	1.880000	0.670000	0.990000	9.600000e-01	1.000000	1.000000	0.997672	0.990000	1	9.900000e-01	1.000000
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000432645.2	+	2	125	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9			82	all_lung(11;0.187)			Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493000																								0							SO:0001583	missense			ENST00000432645.2	1	1	hg19	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	HDAC9	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT		TCGA-HZ-A8P1-01A-11D-A377-08	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1	41	317	0	177		0	0	0	0	177	2		0	0	0	0	0	2	1	1.000000	41	313	0	177	2		0	0	0	0	177	2	-3.318798	1	1	120890	2	34	1	0	0	0	2.082795	0	0.670000	1.880000	0.670000	0.340000	2.400000e-01	0.450000	0.340000	0.347768	0.340000	0	2.900000e-01	0.400000
POMZP3	22932	broad.mit.edu	37	7	76254991	76254991	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:76254991C>G	ENST00000310842.4	-	3	759	c.75G>C	c.(73-75)caG>caC	p.Q25H	AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion			5		Myeloproliferative disorder(862;0.204)			AGCTGATTATCTGCTCTGGTC	0.418000																								0							SO:0001583	missense			ENST00000310842.4	0	1	hg19	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590335	0.28357	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.32515	1.88;1.45	0.694	0.694	0.18062	.	0.120055	0.56097	U	0.000036	T	0.22360	0.0539	L	0.52266	1.64	0.09310	N	1	P	0.50156	0.932	B	0.40782	0.34	T	0.16748	-1.0392	10	0.66056	D	0.02	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	25	Q6PJE2	POZP3_HUMAN	H	25	ENSP00000309233:Q25H;ENSP00000405319:Q25H	ENSP00000275569:Q25H	Q	-	3	2	POMZP3	76092927	0.643000	0.27269	0.070000	0.20053	0.785000	0.44390	0.650000	0.24858	0.690000	0.31570	0.472000	0.43445	CAG		TCGA-HZ-A8P1-01A-11D-A377-08	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	0	0	0	13	588	0	258	1	3.135264e-01	2	47	0	258	2		0	0	0	0	0	2	1	0.999490	12	580	0	259	2		0	0	0	0	258	2	-3.029960	1	1	121412	1	29	1	0	0	0	2.082586	0	0.670000	1.880000	0.670000	0.060000	2.000000e-02	0.110000	0.060000	0.069218	0.060000	0	4.000000e-02	0.090000
ABCB4	5244	broad.mit.edu	37	7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4			77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATCTGCATTTCGGACCGTAGA	0.488000																								0							SO:0001583	missense			ENST00000265723.4	0	1	hg19	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565430	0.86439	4.54E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41978	0.69;0.767;0.656	B;P;B	0.46796	0.083;0.527;0.327	T	0.73962	-0.3817	10	0.56958	D	0.05	-8.993	19.365	0.94458	0.0:1.0:0.0:0.0	.	595;595;595	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	595	ENSP00000352135:R595Q;ENSP00000351172:R595Q;ENSP00000265723:R595Q;ENSP00000392983:R595Q;ENSP00000437465:R595Q	ENSP00000265723:R595Q	R	-	2	0	ABCB4	86898765	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.280000	0.51677	2.580000	0.87095	0.591000	0.81541	CGA		TCGA-HZ-A8P1-01A-11D-A377-08	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	0	0	0	5	423	0	118		0	0	0	0	118	2		0	0	0	0	0	2	1	0.937502	6	421	0	118	2		0	0	0	0	118	2	-2.579223	1	1	121412	5	42	1	0	0	0	2.082586	0	0.670000	1.880000	0.670000	0.030000	0	0.080000	0.040000	0.041205	0.030000	0	1.000000e-02	0.060000
MYOM2	9172	broad.mit.edu	37	8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2			104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)			GAGCACTTCTCGGTGAAGGTG	0.527000																								0							SO:0001583	missense			ENST00000262113.4	1	1	hg19	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012872	0.19277	9.08E-4	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.67865	-0.29;-0.29	5.24	-3.6	0.04570	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.978980	0.01974	N	0.044348	T	0.49406	0.1555	N	0.21240	0.645	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.25606	-1.0127	10	0.27785	T	0.31	.	6.7144	0.23294	0.184:0.3622:0.0:0.4538	.	1392	P54296	MYOM2_HUMAN	L	1392;817	ENSP00000262113:S1392L;ENSP00000428396:S817L	ENSP00000262113:S1392L	S	+	2	0	MYOM2	2080089	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	-1.046000	0.03525	-0.582000	0.05929	0.655000	0.94253	TCG		TCGA-HZ-A8P1-01A-11D-A377-08	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	1	0	1	103	104	0	96	1	8.065406e-01	2	3	0	96	2		0	0	0	0	0	2	1	1.000000	100	98	0	96	2		0	0	0	0	96	2	-3.318794	1	1	121412	8	45	1	0	1	1	1.466632	1	0.670000	1.880000	0.506247	0.950000	8.300000e-01	1.000000	1.000000	0.947887	0.950000	1	8.900000e-01	1.000000
ZMAT4	79698	broad.mit.edu	37	8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4			18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)		TAGGGAGATGCGACCACCGGA	0.517000																								0							SO:0001583	missense			ENST00000297737.6	0	1	hg19	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909157	0.17833	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.41758	0.99;0.99	5.15	-4.1	0.03940	.	0.842881	0.10911	N	0.620537	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.21759	-1.0236	10	0.15952	T	0.53	-0.6256	2.6729	0.05073	0.1913:0.4688:0.0947:0.2452	.	135	Q9H898	ZMAT4_HUMAN	T	135	ENSP00000297737:A135T;ENSP00000428423:A135T	ENSP00000297737:A135T	A	-	1	0	ZMAT4	40651554	0.000000	0.05858	0.130000	0.21974	0.692000	0.40212	-2.263000	0.01174	-0.981000	0.03520	0.557000	0.71058	GCA		TCGA-HZ-A8P1-01A-11D-A377-08	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	0	0	0	7	469	0	201		0	0	0	0	201	2		0	0	0	0	0	2	1	0.978920	8	456	0	200	2		0	0	0	0	201	2	-1.874949	0	1	121412	1	30	1	0	1	1	1.456025	1	0.670000	1.880000	0.506247	0.020000	0	0.060000	0.030000	0.033343	0.020000	0	1.000000e-02	0.040000
IKBKB	3551	broad.mit.edu	37	8	42129663	42129663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663G>A	ENST00000520810.1	+	2	231	c.45G>A	c.(43-45)tgG>tgA	p.W15*	RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta			8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTGGGGCCTGGGAAATGAAAG	0.537000																								0							SO:0001587	stop_gained			ENST00000520810.1	0	1	hg19	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	42	9.636366	0.99226	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000339151:W15X	W	+	3	0	IKBKB	42248820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	TGG		TCGA-HZ-A8P1-01A-11D-A377-08	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	1	114	131	0	111	1	9.984926e-01	14	1	0	111	2		0	0	0	0	0	2	1	1.000000	112	128	0	109	2		0	0	0	0	111	2	-19.999920	1	1	0	0		1	0	1	1	1.456025	1	0.670000	1.880000	0.506247	0.910000	7.900000e-01	1.000000	0.930000	0.914187	0.910000	1	8.500000e-01	0.970000
IKBKB	3551	broad.mit.edu	37	8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129664G>A	ENST00000520810.1	+	2	232	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta			8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGGGGCCTGGGAAATGAAAGA	0.542000																								0							SO:0001583	missense			ENST00000520810.1	1	1	hg19	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127519	0.56721	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	T;T	0.65916	-0.18;-0.18	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.31476	0.935	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.20384	0.02;0.029	T	0.36720	-0.9736	10	0.06891	T	0.86	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	16;16	O14920;Q32ND9	IKKB_HUMAN;.	K	16	ENSP00000430684:E16K;ENSP00000430483:E16K	ENSP00000339151:E16K	E	+	1	0	IKBKB	42248821	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	GAA		TCGA-HZ-A8P1-01A-11D-A377-08	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	1	114	129	0	113	1	9.986172e-01	14	1	0	113	2		0	0	0	0	0	2	1	1.000000	112	126	0	111	2		0	0	0	0	113	2	-20.000000	1	1	0	0		1	0	1	1	1.456025	1	0.670000	1.880000	0.506247	0.910000	8.000000e-01	1.000000	0.930000	0.919569	0.910000	1	8.600000e-01	0.980000
SMC2	10592	broad.mit.edu	37	9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K|SMC2_ENST00000374787.3_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2			48					TAAAATTAAGGAATTAGACCA	0.353000																								0							SO:0001583	missense			ENST00000286398.7	1	1	hg19	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350640	0.41599	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-0.49;-0.49;-1.14;-0.49	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	N	0.02286	-0.61	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57676	-0.7770	10	0.02654	T	1	-15.7009	18.7141	0.91668	0.0:0.0:1.0:0.0	.	912	O95347	SMC2_HUMAN	K	912	ENSP00000286398:E912K;ENSP00000363925:E912K;ENSP00000306152:E912K;ENSP00000363919:E912K	ENSP00000286398:E912K	E	+	1	0	SMC2	105929526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.084000	0.71335	2.763000	0.94921	0.650000	0.86243	GAA		TCGA-HZ-A8P1-01A-11D-A377-08	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0	0	0	9	272	0	88	1	2.100598e-01	3	21	0	88	2		0	0	0	0	0	2	0	0.304530	9	265	1	88	12		0	0	0	0	88	2	-3.543315	1	1	0	0		1	0	0	0	2.087965	0	0.670000	1.880000	0.670000	0.090000	4.000000e-02	0.170000	0.100000	0.105277	0.090000	0	6.000000e-02	0.140000
TYRP1	7306	broad.mit.edu	37	9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	TYRP1_ENST00000381136.2_Intron|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1			22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)			CGGATGACTTGATGGGATCCA	0.433000									Oculocutaneous Albinism															0							SO:0001583	missense	Familial Cancer Database		ENST00000388918.5	1	1	hg19	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266534	0.40095	.	.	ENSG00000107165	ENST00000388918	D	0.98633	-5.04	6.07	4.23	0.50019	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.121883	0.56097	D	0.000034	D	0.95771	0.8624	L	0.28608	0.87	0.80722	D	1	B	0.25007	0.116	B	0.35278	0.199	D	0.91030	0.4863	10	0.30854	T	0.27	-6.3417	4.1206	0.10104	0.1303:0.2338:0.5154:0.1205	.	265	P17643	TYRP1_HUMAN	F	265	ENSP00000373570:L265F	ENSP00000373570:L265F	L	+	3	2	TYRP1	12688537	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.652000	0.37313	0.889000	0.36185	0.655000	0.94253	TTG		TCGA-HZ-A8P1-01A-11D-A377-08	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	1	0	1	127	152	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	1.000000	126	149	0	130	2		0	0	0	0	130	2	-20.000000	1	1	0	0		1	0	1	1	1.381100	1	0.670000	1.880000	0.503759	0.890000	7.800000e-01	0.990000	0.900000	0.895043	0.890000	1	8.300000e-01	0.950000
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2			33					GACACATCTCGAAAGAGCGGC	0.398000																								0							SO:0001587	stop_gained			ENST00000341998.2	0	1	hg19	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	37	6.631099	0.97718	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.91	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9975	0.47585	0.0676:0.0:0.6657:0.2667	.	.	.	.	X	240	.	.	R	-	1	2	SLC24A2	19776147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.806000	0.34183	0.655000	0.94253	CGA		TCGA-HZ-A8P1-01A-11D-A377-08	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	1	0	1	45	163	0	129	0	0	0	1	0	129	2		0	0	0	0	0	2	1	1.000000	45	160	0	128	2		0	0	0	0	129	2	-20.000000	1	1	0	0		1	0	1	1	1.381100	1	0.670000	1.880000	0.503759	0.420000	3.200000e-01	0.540000	0.430000	0.432775	0.420000	0	3.700000e-01	0.490000
FBXO10	26267	broad.mit.edu	37	9	37537233	37537233	+	Silent	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:37537233G>C	ENST00000432825.2	-	3	1341	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10			34					ACTTGCGGATGAGGCAGCCCT	0.602000																								0							SO:0001819	synonymous_variant			ENST00000432825.2	0	1	hg19	CCDS47966.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0	0	0	4	167	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	0.889944	4	166	0	62	2		0	0	0	0	63	2	-6.186070	1	1	0	0		1	0	0	0	2.087965	0	0.670000	1.880000	0.670000	0.070000	2.000000e-02	0.170000	0.070000	0.085981	0.070000	0	4.000000e-02	0.120000
KIAA1210	57481	broad.mit.edu	37	X	118221146	118221146	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210			64					TCACTGGGCCCTTTGATGACA	0.473000																								0							SO:0001583	missense			ENST00000402510.2	1	1	hg19	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.053|4.053	0.007534|0.007534	0.07866|0.07866	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.47|4.47	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.29508	.|0.246	.|B	.|0.23716	.|0.048	T|T	0.44298|0.44298	-0.9337|-0.9337	5|9	.|0.18276	.|T	.|0.48	.|.	7.1739|7.1739	0.25734|0.25734	0.0:0.1921:0.1243:0.6836|0.0:0.1921:0.1243:0.6836	.|.	.|1349	.|Q9ULL0	.|K1210_HUMAN	W|N	756|1349	.|ENSP00000384670:K1349N	.|ENSP00000384670:K1349N	G|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105174|118105174	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.044000|-0.044000	0.12023|0.12023	-1.290000|-1.290000	0.02372|0.02372	-0.322000|-0.322000	0.08575|0.08575	GGG|AAG		TCGA-HZ-A8P1-01A-11D-A377-08	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	1	0	1	76	590	0	231		0	0	0	0	231	2		0	0	0	0	0	2	1	1.000000	72	579	0	229	2		0	0	0	0	231	2	-3.318794	1	1	0	0		1	0	1	1			0.670000	1.880000	0.670000	0.160000	1.300000e-01	0.210000	0.170000	0.171910	0.160000	0	1.400000e-01	0.190000
GPR50	9248	broad.mit.edu	37	X	150349207	150349207	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150349207C>T	ENST00000218316.3	+	2	1221	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50			38	Acute lymphoblastic leukemia(192;6.56e-05)				GTGCCTCTGGCCACCCTAAGC	0.587000																								0							SO:0001819	synonymous_variant			ENST00000218316.3	0	1	hg19	CCDS44012.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	0	0	0	4	189	1	75		0	0	0	1	75	2		0	0	0	0	0	2	0	0.084252	4	189	1	75	10		0	0	0	1	75	2	-2.663265	1	1	0	0		1	0	1	1			0.670000	1.880000	0.670000	0.030000	0	0.070000	0.030000	0.038140	0.030000	0	1.000000e-02	0.050000
PLCXD1	55344	broad.mit.edu	37	X	215966	215966	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000381663.3_Silent_p.D312D|PLCXD1_ENST00000399012.1_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1			11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			TCGTCAGTGACGTCATCGCGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000381657.2	1	1	hg19	CCDS14103.1																																																																																				TCGA-HZ-A8P1-01A-11D-A377-08	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	1	0	1	109	148	0	76	1	9.996310e-01	9	11	0	76	2		0	0	0	0	0	2	1	1.000000	109	146	0	75	2		0	0	0	0	76	2	-20.000000	1	1	121412	7	41	1	0	1	1			0.670000	1.880000	0.670000	0.620000	5.300000e-01	0.720000	0.630000	0.632689	0.620000	0	5.800000e-01	0.680000
