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
ROCK1	6093	broad.mit.edu	37	18	18608802	18608802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr18:18608802delA	ENST00000399799.2	-	10	2086	c.1146delT	c.(1144-1146)cctfs	p.P382fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1			16	Melanoma(1;0.165)				CTTTAGGAATAGGGAATGTTT	0.358000																								0							SO:0001589	frameshift_variant			ENST00000399799.2	1	1	hg19	CCDS11870.2																																																																																				TCGA-HZ-8005-01A-11D-2201-08	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	0	92	585	0	115	1	9.742560e-01	2	37	0	115	2			0	0	0	0		1	1.000000	91	578	0	113	2	0	0	0	0	0	0		-2.364554	0	1	0	0		1	0	0	0	2.033512	0	0.360000	1.820000	0.348269	0.730000	0.600000	0.880000	0.740000	0.745152	0.730000	0	0.660000	0.810000
MAP1LC3A	84557	broad.mit.edu	37	20	33147601	33147604	+	Frame_Shift_Del	DEL	GTGA	GTGA	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			GTGA	-	GTGA	GTGA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr20:33147601_33147604delGTGA	ENST00000360668.3	+	4	1026_1029	c.265_268delGTGA	c.(265-270)gtgagtfs	p.VS91fs	MAP1LC3A_ENST00000397709.1_Frame_Shift_Del_p.VS91fs|MAP1LC3A_ENST00000374837.3_Frame_Shift_Del_p.VS95fs|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha			5					GCACAGCATGGTGAGTGTGTCCAC	0.618000																								0							SO:0001589	frameshift_variant			ENST00000360668.3	1	1	hg19	CCDS13238.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	1	0	0	170	755	0	154	1	1	21	126	0	154	2			0	0	0	0		1	1.000000	236	792	6	160	58	0	0	0	0	0	0		-2.931444	1	1	0	0		1	1	2	3	2.302192	1	0.360000	1.820000	0.436123	0.990000	0.990000	1.000000	1.000000	0.999555	0.990000	1	0.990000	1.000000
MRPS30	10884	broad.mit.edu	37	5	44815246	44815255	+	Frame_Shift_Del	DEL	TAGTTCACTT	TAGTTCACTT	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:44815246_44815255delTAGTTCACTT	ENST00000507110.1	+	5	1300_1309	c.1262_1271delTAGTTCACTT	c.(1261-1272)atagttcactttfs	p.IVHF421fs		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30			20	Lung NSC(6;8.08e-07)				CTACTTCAGATAGTTCACTTTCTACTGAAT	0.319000																								0							SO:0001589	frameshift_variant			ENST00000507110.1	0	1	hg19	CCDS3951.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	1	0	0	22	216	0	55	0	9.878037e-01	0	72	0	55	2			0	0	0	0		1	0.733022	34	227	2	58	21	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	2.013809	0	0.360000	1.820000	0.341021	0.500000	0.320000	0.710000	0.500000	0.512892	0.500000	0	0.400000	0.610000
NCOA2	10499	broad.mit.edu	37	8	71071800	71071803	+	Frame_Shift_Del	DEL	AGTT	AGTT	-			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:71071800_71071803delAGTT	ENST00000452400.2	-	10	1242_1245	c.1061_1064delAACT	c.(1060-1065)aaactcfs	p.KL354fs	NCOA2_ENST00000524223.1_5'Flank	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2		PAX3/NCOA2(4)|HEY1/NCOA2(10)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		AGAACGGATGAGTTTGCTCTTCGT	0.402000			T	RUNXBP2, HEY1	AML, Chondrosarcoma										Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0							SO:0001589	frameshift_variant			ENST00000452400.2	1	1	hg19	CCDS47872.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	1	0	0	141	853	0	144	1	8.193667e-01	3	18	0	144	2			0	0	0	0		1	1.000000	174	847	1	144	23	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.820000	0.690000	1.000000	0.810000	0.846575	0.820000	0	0.750000	0.970000
CDKN2A	1029	broad.mit.edu	37	9	21971143	21971144	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:21971143_21971144insA	ENST00000304494.5	-	2	484_485	c.214_215insT	c.(214-216)tgcfs	p.C72fs	CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.L127fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.C72fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.C21fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.E61_L94del(1)|p.0(1)|p.C72S(1)|p.C72Y(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.C72G(1)|p.A68fs*3(1)|p.C72fs*71(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			GGGGTCGGCGCAGTTGGGCTCC	0.713000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1368	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - Missense(3)|Deletion - In frame(1)						SO:0001589	frameshift_variant			ENST00000304494.5	0	1	hg19	CCDS6510.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	13	88	0	17	1	1	7	516	0	17	2	1	9.998923e-01	28	91	0	68	2	1	0.999718	15	81	0	15	2	0	0	0	0	0	0		-19.994250	1	1	0	0		1	0	2	2	1.889507	1	0.360000	1.820000	0.360000	0.760000	0.420000	1.000000	1.000000	0.771724	0.760000	0	0.570000	1.000000
SEC31B	25956	broad.mit.edu	37	10	102249858	102249858	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:102249858G>A	ENST00000370345.3	-	21	2969	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)			36		Colorectal(252;0.117)			AAGCTTGCAGGAGGGGCTGGG	0.617000																								0							SO:0001583	missense			ENST00000370345.3	1	1	hg19	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770537	0.15983	.	.	ENSG00000075826	ENST00000370345	T	0.56275	0.47	5.37	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	M	0.70275	2.135	0.80722	D	1	P;P	0.36412	0.472;0.552	B;B	0.33521	0.165;0.064	T	0.51426	-0.8707	10	0.59425	D	0.04	-6.728	7.5146	0.27593	0.0908:0.1658:0.7435:0.0	.	957;958	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	S	958	ENSP00000359370:P958S	ENSP00000359370:P958S	P	-	1	0	SEC31B	102239848	0.998000	0.40836	0.924000	0.36721	0.048000	0.14542	1.939000	0.40213	1.256000	0.44068	0.561000	0.74099	CCT		TCGA-HZ-8005-01A-11D-2201-08	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	1	0	1	102	454	0	99	0	1.581886e-01	0	4	0	99	2		0	0	0	0	0	2	1	1.000000	102	445	0	97	2		0	0	0	0	99	2	-3.225289	1	1	0	0		1	0	1	1	1.904045	0	0.360000	1.820000	0.302224	0.920000	0.770000	1.000000	1.000000	0.925503	0.920000	1	0.840000	1.000000
PSD	5662	broad.mit.edu	37	10	104163099	104163099	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:104163099G>A	ENST00000020673.5	-	17	3459	c.2933C>T	c.(2932-2934)gCc>gTc	p.A978V	PSD_ENST00000406432.1_Missense_Mutation_p.A978V	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing			34					CCCGGCCTGGGCCAGTGCTGC	0.642000																								0							SO:0001583	missense			ENST00000020673.5	1	1	hg19	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350837	0.24512	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.17854	2.25;2.25	4.62	3.67	0.42095	.	0.179711	0.40554	N	0.001066	T	0.11281	0.0275	L	0.38175	1.15	0.28948	N	0.890587	B;B;B	0.32051	0.354;0.227;0.125	B;B;B	0.32465	0.071;0.146;0.096	T	0.07966	-1.0745	10	0.45353	T	0.12	.	2.9344	0.05810	0.1017:0.1876:0.54:0.1708	.	978;881;599	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	V	978;881;978	ENSP00000020673:A978V;ENSP00000384830:A978V	ENSP00000020673:A978V	A	-	2	0	PSD	104153089	0.998000	0.40836	1.000000	0.80357	0.160000	0.22226	1.737000	0.38197	2.403000	0.81681	0.313000	0.20887	GCC		TCGA-HZ-8005-01A-11D-2201-08	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2	1	0	0	26	363	0	60	1	9.184895e-01	2	60	0	60	2		0	0	0	0	0	2	1	1.000000	26	352	0	60	2		0	0	0	0	60	2	-7.500543	1	1	121410	1	32	1	0	1	1	1.904045	0	0.360000	1.820000	0.302224	0.340000	0.220000	0.480000	0.340000	0.349784	0.340000	0	0.270000	0.410000
PCDH15	65217	broad.mit.edu	37	10	55566772	55566772	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr10:55566772C>A	ENST00000373965.2	-	36	5016	c.4622G>T	c.(4621-4623)aGt>aTt	p.S1541I	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	p.S1538N(1)		237		Melanoma(3;0.117)|Lung SC(717;0.238)			GTTGATATTACTGTGGATACT	0.453000										HNSCC(58;0.16)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373965.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	15.19	2.759997	0.49468	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.65364	-0.15;-0.15	5.6	4.59	0.56863	.	.	.	.	.	T	0.44644	0.1303	L	0.47716	1.5	0.80722	D	1	P;P	0.39216	0.664;0.664	B;B	0.27500	0.08;0.08	T	0.54886	-0.8226	9	0.87932	D	0	.	3.092	0.06297	0.0:0.5059:0.2678:0.2263	.	1532;1538	C6ZEF7;C9J4F3	.;.	I	1541;1538;1534	ENSP00000363076:S1541I;ENSP00000410304:S1538I	ENSP00000363076:S1541I	S	-	2	0	PCDH15	55236778	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	1.394000	0.34509	2.627000	0.88993	0.655000	0.94253	AGT		TCGA-HZ-8005-01A-11D-2201-08	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	0	0	0	23	244	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.999999	23	240	0	64	2		0	0	0	0	64	2	-20.000000	1	1	0	0		1	0	1	1	1.904045	0	0.360000	1.820000	0.302224	0.430000	0.280000	0.620000	0.430000	0.450706	0.430000	0	0.350000	0.530000
PPP2R1B	5519	broad.mit.edu	37	11	111624222	111624222	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:111624222T>C	ENST00000527614.1	-	9	1174	c.1109A>G	c.(1108-1110)aAa>aGa	p.K370R	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.K243R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.K209R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.K306R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.K370R|PPP2R1B_ENST00000341980.6_Intron	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta			22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			GGTATTTTCTTTGCCCAAAAT	0.338000																								0							SO:0001583	missense			ENST00000527614.1	1	1	hg19	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193625	0.58017	.	.	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000393055	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.33137	0.985	0.52501	D	0.999952	B;B;B;B;B	0.18013	0.025;0.0;0.001;0.0;0.003	B;B;B;B;B	0.18871	0.01;0.001;0.006;0.001;0.023	T	0.03095	-1.1073	10	0.39692	T	0.17	-18.4605	13.9672	0.64216	0.0:0.0:0.0:1.0	.	243;209;306;370;370	A8MY67;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;2AAB_HUMAN;.	R	370;243;306;370;209;243	ENSP00000311344:K370R;ENSP00000410671:K306R;ENSP00000437193:K370R;ENSP00000415759:K209R;ENSP00000376775:K243R	ENSP00000311344:K370R	K	-	2	0	PPP2R1B	111129432	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.509000	0.81698	2.180000	0.69256	0.533000	0.62120	AAA		TCGA-HZ-8005-01A-11D-2201-08	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	1	0	1	39	199	0	53	1	7.315343e-01	5	10	0	53	2		0	0	0	0	0	2	1	1.000000	39	195	0	53	2		0	0	0	0	53	2	-20.000000	1	1	0	0		1	0	0	0	2.060589	0	0.360000	1.820000	0.357688	0.900000	0.660000	1.000000	1.000000	0.893788	0.900000	1	0.770000	1.000000
DSCAML1	57453	broad.mit.edu	37	11	117299205	117299205	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:117299205C>T	ENST00000321322.6	-	33	6182	c.6181G>A	c.(6181-6183)Gct>Act	p.A2061T	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1791T	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)			GGAGGGGCAGCGCTGGGGGCG	0.731000																								0							SO:0001583	missense			ENST00000321322.6	0	1	hg19	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	3.405	-0.121412	0.06838	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60920	0.19;0.15	4.8	-1.8	0.07907	.	.	.	.	.	T	0.27900	0.0687	N	0.08118	0	0.22446	N	0.999099	B	0.28880	0.226	B	0.20184	0.028	T	0.16748	-1.0392	9	0.16896	T	0.51	.	6.3973	0.21618	0.0:0.3772:0.1962:0.4265	.	2001	Q8TD84	DSCL1_HUMAN	T	1791;2061;1768	ENSP00000434335:A1791T;ENSP00000315465:A2061T	ENSP00000315465:A2061T	A	-	1	0	DSCAML1	116804415	0.004000	0.15560	0.004000	0.12327	0.046000	0.14306	0.286000	0.18902	-0.373000	0.07979	0.313000	0.20887	GCT		TCGA-HZ-8005-01A-11D-2201-08	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	0	11	89	0	17	1	1.484866e-02	2	0	0	17	2		0	0	0	0	0	2	1	0.998487	11	87	0	17	2		0	0	0	0	17	2	-18.512830	1	1	115846	5	31	1	0	0	0	2.060589	0	0.360000	1.820000	0.357688	0.610000	0.330000	0.980000	1.000000	0.637149	0.610000	0	0.460000	0.800000
OR10G9	219870	broad.mit.edu	37	11	123894473	123894473	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:123894473G>A	ENST00000375024.1	+	1	754	c.754G>A	c.(754-756)Gtt>Att	p.V252I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9			61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TTGCTTTTTTGTTCCCTGTGT	0.542000																								0							SO:0001583	missense			ENST00000375024.1	1	1	hg19	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.619019	0.00828	.	.	ENSG00000236981	ENST00000375024	T	0.37915	1.17	3.35	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	0.666360	0.12267	N	0.484157	T	0.23611	0.0571	L	0.43152	1.355	0.20307	N	0.999916	B	0.06786	0.001	B	0.15052	0.012	T	0.36187	-0.9758	10	0.02654	T	1	.	7.4128	0.27027	0.1005:0.1691:0.7304:0.0	.	252	Q8NGN4	O10G9_HUMAN	I	252	ENSP00000364164:V252I	ENSP00000364164:V252I	V	+	1	0	OR10G9	123399683	0.000000	0.05858	0.733000	0.30861	0.764000	0.43329	0.040000	0.13905	0.234000	0.21139	-1.247000	0.01520	GTT		TCGA-HZ-8005-01A-11D-2201-08	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	1	0	1	119	578	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	118	567	0	110	2		0	0	0	0	114	2	-20.000000	1	1	0	0		1	0	0	0	2.060589	0	0.360000	1.820000	0.357688	0.940000	0.790000	1.000000	1.000000	0.935431	0.940000	1	0.860000	1.000000
OR4S1	256148	broad.mit.edu	37	11	48328426	48328426	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:48328426A>G	ENST00000319988.1	+	1	652	c.652A>G	c.(652-654)Atc>Gtc	p.I218V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1			21					TTCCTATGTTATCATCTTACT	0.468000																								0							SO:0001583	missense			ENST00000319988.1	1	1	hg19	CCDS31488.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.812081	0.00073	.	.	ENSG00000176555	ENST00000319988	T	0.00076	8.76	5.02	-0.0613	0.13785	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.00652	-1.29	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.14699	-1.0463	9	0.02654	T	1	.	8.1535	0.31154	0.4876:0.0:0.5124:0.0	.	218	Q8NGB4	OR4S1_HUMAN	V	218	ENSP00000321447:I218V	ENSP00000321447:I218V	I	+	1	0	OR4S1	48285002	0.000000	0.05858	0.132000	0.22025	0.008000	0.06430	-0.029000	0.12329	0.061000	0.16311	-0.177000	0.13119	ATC		TCGA-HZ-8005-01A-11D-2201-08	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	1	0	1	73	632	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1.000000	71	613	0	134	2		0	0	0	0	134	2	-20.000000	1	1	0	0		1	1	2	3	2.077687	0	0.360000	1.820000	0.362296	0.570000	0.450000	0.730000	0.580000	0.586219	0.570000	0	0.510000	0.650000
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:55703122A>T	ENST00000301532.3	-	1	754	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1			52					CCCTTGGTAGATCGTCACTGA	0.428000																								0							SO:0001583	missense			ENST00000301532.3	1	1	hg19	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867312	0.32977	.	.	ENSG00000167825	ENST00000301532	T	0.00211	8.54	5.16	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000192	T	0.00552	0.0018	M	0.87456	2.885	0.25640	N	0.986215	D	0.76494	0.999	D	0.87578	0.998	T	0.33111	-0.9881	10	0.87932	D	0	.	7.0082	0.24848	0.8205:0.0:0.1795:0.0	.	252	Q13606	OR5I1_HUMAN	N	252	ENSP00000301532:I252N	ENSP00000301532:I252N	I	-	2	0	OR5I1	55459698	0.411000	0.25384	0.428000	0.26697	0.111000	0.19643	5.207000	0.65197	0.893000	0.36288	0.523000	0.50628	ATC		TCGA-HZ-8005-01A-11D-2201-08	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	1	0	0	9	163	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.994146	9	160	0	31	2		0	0	0	0	31	2	-12.314750	1	1	0	0		1	0	0	0	2.060589	0	0.360000	1.820000	0.357688	0.290000	0.140000	0.510000	0.280000	0.314834	0.290000	0	0.210000	0.410000
CNGA4	1262	broad.mit.edu	37	11	6265298	6265298	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:6265298A>G	ENST00000379936.2	+	6	1502	c.1387A>G	c.(1387-1389)Atc>Gtc	p.I463V		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4			40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)			AGCACAGACCATCATGGAGGA	0.552000																								0							SO:0001583	missense			ENST00000379936.2	1	1	hg19	CCDS31408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	0.009	-1.801041	0.00611	.	.	ENSG00000132259	ENST00000379936	D	0.96651	-4.08	5.19	2.34	0.29019	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.302345	0.31507	N	0.007531	D	0.84101	0.5398	N	0.02751	-0.505	0.20821	N	0.999842	B	0.02656	0.0	B	0.01281	0.0	T	0.73503	-0.3962	10	0.05620	T	0.96	.	4.5823	0.12264	0.3302:0.1519:0.5179:0.0	.	463	Q8IV77	CNGA4_HUMAN	V	463	ENSP00000369268:I463V	ENSP00000369268:I463V	I	+	1	0	CNGA4	6221874	0.000000	0.05858	0.384000	0.26145	0.471000	0.32888	0.124000	0.15728	0.369000	0.24510	-0.804000	0.03201	ATC		TCGA-HZ-8005-01A-11D-2201-08	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	1	0	1	150	406	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	1.000000	140	396	0	92	2		0	0	0	0	94	2	-20.000000	1	1	121412	2	38	1	1	2	3	2.226276	1	0.360000	1.820000	0.404983	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
DENND5A	23258	broad.mit.edu	37	11	9166560	9166560	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr11:9166560A>G	ENST00000328194.3	-	18	3424	c.3104T>C	c.(3103-3105)aTc>aCc	p.I1035T	DENND5A_ENST00000527700.1_Missense_Mutation_p.I378T|DENND5A_ENST00000530044.1_Missense_Mutation_p.I1035T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					ATGTCCTGTGATCTCATTCCT	0.493000																								0							SO:0001583	missense			ENST00000328194.3	1	1	hg19	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.429149|4.429149	0.83776|0.83776	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000525784	T;T;T|.	0.64260|.	-0.09;-0.09;-0.09|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);|.	0.044753|.	0.85682|.	D|.	0.000000|.	T|T	0.52208|0.52208	0.1720|0.1720	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	P;B|.	0.48503|.	0.911;0.43|.	P;P|.	0.56216|.	0.794;0.697|.	T|T	0.49428|0.49428	-0.8941|-0.8941	10|5	0.42905|.	T|.	0.14|.	.|.	14.9507|14.9507	0.71071|0.71071	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1035;1035|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	T|P	1035;1035;378|83	ENSP00000328524:I1035T;ENSP00000435866:I1035T;ENSP00000432549:I378T|.	ENSP00000328524:I1035T|.	I|S	-|-	2|1	0|0	DENND5A|DENND5A	9123136|9123136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.325000|6.325000	0.72901|0.72901	2.122000|2.122000	0.65172|0.65172	0.528000|0.528000	0.53228|0.53228	ATC|TCA		TCGA-HZ-8005-01A-11D-2201-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	0	0	1	142	750	0	143	0	9.994289e-01	1	58	0	143	2		0	0	0	0	0	2	1	1.000000	139	735	0	141	2		0	0	0	0	143	2	-20.000000	1	1	0	0		1	1	2	3	2.226276	1	0.360000	1.820000	0.404983	0.970000	0.810000	1.000000	1.000000	0.955642	0.970000	1	0.880000	1.000000
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.Q61H(153)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	153	Substitution - Missense(153)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		TCGA-HZ-8005-01A-11D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	103	283	0	77	1	9.999519e-01	28	15	0	77	2	1	1	332	1001	0	915	2	1	1.000000	103	282	0	77	2	1	1	2222	5800	0	77	2	-20.000000	1	1	0	0		1	0	1	1	2.016122	0	0.360000	1.820000	0.327307	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
KRT84	3890	broad.mit.edu	37	12	52779007	52779007	+	Silent	SNP	G	G	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:52779007G>C	ENST00000257951.3	-	1	429	c.363C>G	c.(361-363)ggC>ggG	p.G121G	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84			27	all_hematologic(5;0.12)				TGTAACCAAAGCCAGGGCCAC	0.577000																								0							SO:0001819	synonymous_variant			ENST00000257951.3	1	1	hg19	CCDS8825.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	1	0	0	88	1117	0	204		0	0	0	0	204	2		0	0	0	0	0	2	1	1.000000	88	1094	0	199	2		0	0	0	0	204	2	-16.603180	1	1	0	0		1	0	1	1	2.016122	0	0.360000	1.820000	0.327307	0.380000	0.300000	0.460000	0.380000	0.389071	0.380000	0	0.340000	0.430000
NACA	4666	broad.mit.edu	37	12	57110765	57110765	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr12:57110765G>C	ENST00000454682.1	-	3	4830	c.4549C>G	c.(4549-4551)Cca>Gca	p.P1517A	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					GGGGTAGCTGGGACCTCTTTG	0.587000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	9.906	1.208201	0.22205	.	.	ENSG00000196531	ENST00000454682	T	0.55234	0.53	2.96	-0.127	0.13510	.	.	.	.	.	T	0.28699	0.0711	.	.	.	0.09310	N	1	B	0.22080	0.064	B	0.18263	0.021	T	0.16041	-1.0416	7	.	.	.	.	1.6713	0.02812	0.114:0.1778:0.3461:0.3622	.	1517	E9PAV3	.	A	1517	ENSP00000403817:P1517A	.	P	-	1	0	NACA	55397032	0.005000	0.15991	0.000000	0.03702	0.236000	0.25371	0.396000	0.20867	-0.025000	0.13918	0.298000	0.19748	CCA		TCGA-HZ-8005-01A-11D-2201-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	36	602	0	86	0	0	1	0	0	86	2		0	0	0	0	0	2	1	1.000000	36	593	0	84	2		0	0	0	0	86	2	-7.045672	1	1	0	0		1	0	1	1	2.016122	0	0.360000	1.820000	0.327307	0.290000	0.210000	0.400000	0.300000	0.304579	0.290000	0	0.250000	0.350000
HSP90AA1	3320	broad.mit.edu	37	14	102552342	102552342	+	Silent	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:102552342A>T	ENST00000216281.8	-	3	487	c.282T>A	c.(280-282)acT>acA	p.T94T	HSP90AA1_ENST00000334701.7_Silent_p.T216T|HSP90AA1_ENST00000441629.2_Intron	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1			28				Nedocromil(DB00716)|Rifabutin(DB00615)	TTCCAATTCCAGTATCCACAA	0.433000																								0							SO:0001819	synonymous_variant			ENST00000216281.8	1	1	hg19	CCDS9967.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	1	0	1	66	396	0	86	1	1	608	523	0	86	2		0	0	0	0	0	2	1	1.000000	62	371	0	90	2		0	0	0	0	86	2	-20.000000	1	1	0	0		1	0	1	1	1.871888	1	0.360000	1.820000	0.298092	0.710000	0.560000	0.880000	0.720000	0.727699	0.710000	0	0.640000	0.810000
DAAM1	23002	broad.mit.edu	37	14	59820665	59820665	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:59820665T>C	ENST00000395125.1	+	19	2392	c.2369T>C	c.(2368-2370)gTg>gCg	p.V790A	DAAM1_ENST00000360909.3_Missense_Mutation_p.V780A|DAAM1_ENST00000351081.1_Missense_Mutation_p.V790A|DAAM1_ENST00000553966.1_Intron	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1			37					GTGGCAGAAGTGAAACCTAAA	0.363000																								0							SO:0001583	missense			ENST00000395125.1	1	1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	t	14.69	2.610615	0.46527	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.18810	2.19;2.19;2.19	6.03	6.03	0.97812	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050329	0.85682	D	0.000000	T	0.19406	0.0466	N	0.20304	0.555	0.51012	D	0.999904	B;B	0.29341	0.242;0.213	B;B	0.37091	0.162;0.241	T	0.09250	-1.0683	10	0.30854	T	0.27	.	16.5808	0.84714	0.0:0.0:0.0:1.0	.	780;790	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	A	780;790;790	ENSP00000354162:V780A;ENSP00000247170:V790A;ENSP00000378557:V790A	ENSP00000247170:V790A	V	+	2	0	DAAM1	58890418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.183000	0.72002	2.317000	0.78254	0.524000	0.50904	GTG		TCGA-HZ-8005-01A-11D-2201-08	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	1	0	1	44	169	0	22	1	9.889714e-01	16	14	0	22	2		0	0	0	0	0	2	1	1.000000	44	167	0	22	2		0	0	0	0	22	2	-20.000000	1	1	0	0		1	0	1	1	1.871888	1	0.360000	1.820000	0.298092	0.990000	0.780000	1.000000	1.000000	0.966279	0.990000	1	0.900000	1.000000
EXD2	55218	broad.mit.edu	37	14	69704529	69704529	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:69704529C>T	ENST00000409018.3	+	8	1658	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	EXD2_ENST00000409014.1_Silent_p.L385L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L385L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409242.1_Silent_p.L385L|EXD2_ENST00000409949.1_Silent_p.L385L|EXD2_ENST00000312994.5_Silent_p.L510L|EXD2_ENST00000409675.1_Silent_p.L385L	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2			14					GGGCCCTGCTCAACGCGGAGA	0.612000																								0							SO:0001819	synonymous_variant			ENST00000409018.3	1	1	hg19	CCDS53902.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1	1	0	1	11	160	0	31	1	8.350760e-01	8	42	0	31	2		0	0	0	0	0	2	1	0.998404	11	158	0	31	2		0	0	0	0	31	2	-15.298350	1	1	0	0		1	0	1	1	1.871888	1	0.360000	1.820000	0.298092	0.330000	0.170000	0.540000	0.320000	0.346558	0.330000	0	0.240000	0.440000
PRIMA1	145270	broad.mit.edu	37	14	94245551	94245551	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr14:94245551G>A	ENST00000393140.1	-	3	302	c.200C>T	c.(199-201)cCg>cTg	p.P67L	PRIMA1_ENST00000316227.3_Missense_Mutation_p.P67L|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P67L	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1			7		all_cancers(154;0.127)			gggaggtggcgggggtggggg	0.632000																								0							SO:0001583	missense			ENST00000393140.1	0	1	hg19	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	g	10.84	1.462747	0.26248	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000004	T	0.64283	0.2584	L	0.29908	0.895	0.52501	D	0.999955	D	0.89917	1.0	D	0.79108	0.992	T	0.67894	-0.5552	9	0.72032	D	0.01	-5.5528	13.0054	0.58701	0.0:0.0:1.0:0.0	.	67	Q86XR5	PRIMA_HUMAN	L	67	.	ENSP00000320948:P67L	P	-	2	0	PRIMA1	93315304	0.999000	0.42202	0.957000	0.39632	0.086000	0.17979	4.484000	0.60271	2.140000	0.66376	0.556000	0.70494	CCG		TCGA-HZ-8005-01A-11D-2201-08	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	1	0	0	11	86	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	0.996645	12	70	0	9	2		0	0	0	0	10	2	-18.206020	1	1	0	0		1	0	1	1	1.871888	1	0.360000	1.820000	0.298092	0.570000	0.310000	0.920000	0.570000	0.598242	0.570000	0	0.430000	0.750000
GABRA5	2558	broad.mit.edu	37	15	27182336	27182336	+	Silent	SNP	G	G	A	rs149156018	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr15:27182336G>A	ENST00000335625.5	+	8	1473	c.585G>A	c.(583-585)gcG>gcA	p.A195A	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.A195A|GABRA5_ENST00000355395.5_Silent_p.A195A	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5			49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ATACAGATGCGTACCCTAATT	0.493000																								0							SO:0001819	synonymous_variant			ENST00000335625.5	1	0	hg19	CCDS45194.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1	1	0	1	70	333	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1.000000	70	327	0	96	2		0	0	0	0	96	2	-3.082832	1	1	120914	144	55	1	0	1	1	1.703365	1	0.360000	1.820000	0.219512	0.780000	0.620000	0.940000	0.780000	0.789220	0.780000	0	0.700000	0.870000
CDH8	1006	broad.mit.edu	37	16	61935231	61935231	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:61935231G>A	ENST00000577390.1	-	3	1353	c.399C>T	c.(397-399)acC>acT	p.T133T	CDH8_ENST00000577730.1_Silent_p.T133T|CDH8_ENST00000299345.6_Silent_p.T133T|CDH8_ENST00000584337.1_Silent_p.T133T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2			112		Ovarian(137;0.0799)|Melanoma(118;0.16)			GAGCTGTTAGGGTATACTCAG	0.418000																								0							SO:0001819	synonymous_variant			ENST00000577390.1	1	1	hg19	CCDS10802.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1	96	588	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1.000000	95	578	0	105	2		0	0	0	0	107	2	-2.690417	1	1	0	0		1	1	2	3	2.398782	1	0.360000	1.820000	0.450927	0.910000	0.740000	1.000000	1.000000	0.912194	0.910000	1	0.820000	1.000000
ZFHX3	463	broad.mit.edu	37	16	72923765	72923765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr16:72923765G>A	ENST00000268489.5	-	4	3985	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q191*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			CGCACATGCTGGATGAGGTTG	0.592000																								0							SO:0001587	stop_gained			ENST00000268489.5	0	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	50	16.503353	0.99865	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.71	5.71	0.89125	.	0.000000	0.47852	D	0.000219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8299	0.96631	0.0:0.0:1.0:0.0	.	.	.	.	X	1105;191	.	ENSP00000268489:Q1105X	Q	-	1	0	ZFHX3	71481266	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.852000	0.99516	2.698000	0.92095	0.511000	0.50034	CAG		TCGA-HZ-8005-01A-11D-2201-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	1	44	297	0	52	1	4.316719e-01	2	9	0	52	2		0	0	0	0	0	2	1	1.000000	43	291	0	52	2		0	0	0	0	52	2	-2.921007	1	1	0	0		1	1	2	3	2.398782	1	0.360000	1.820000	0.450927	0.840000	0.620000	1.000000	1.000000	0.850469	0.840000	0	0.720000	1.000000
MYH4	4622	broad.mit.edu	37	17	10358056	10358056	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:10358056A>G	ENST00000255381.2	-	22	2617	c.2507T>C	c.(2506-2508)cTg>cCg	p.L836P	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle			149					CTTGAAATACAGCTTCATCCA	0.438000																								0							SO:0001583	missense			ENST00000255381.2	1	1	hg19	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966711	0.74131	.	.	ENSG00000141048	ENST00000255381	D	0.93426	-3.22	5.17	5.17	0.71159	.	0.000000	0.30101	U	0.010414	D	0.98166	0.9394	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99758	1.1020	10	0.87932	D	0	.	15.3039	0.73976	1.0:0.0:0.0:0.0	.	836	Q9Y623	MYH4_HUMAN	P	836	ENSP00000255381:L836P	ENSP00000255381:L836P	L	-	2	0	MYH4	10298781	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.182000	0.94881	2.075000	0.62263	0.383000	0.25322	CTG		TCGA-HZ-8005-01A-11D-2201-08	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	1	0	1	101	427	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1.000000	99	421	0	111	2		0	0	0	0	111	2	-20.000000	1	1	0	0		1	0	1	1	1.730727	1	0.360000	1.820000	0.219512	0.850000	0.710000	0.980000	0.870000	0.862012	0.850000	1	0.780000	0.930000
KCNJ12	3768	broad.mit.edu	37	17	21318768	21318768	+	Silent	SNP	G	G	A	rs139060766		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:21318768G>A	ENST00000583088.1	+	3	1009	c.114G>A	c.(112-114)acG>acA	p.T38T	KCNJ12_ENST00000331718.5_Silent_p.T38T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12			70				Dofetilide(DB00204)|Yohimbine(DB01392)	AGGTGCACACGCGGCGCAGGT	0.622000										Prostate(3;0.18)														0							SO:0001819	synonymous_variant			ENST00000583088.1	1	1	hg19	CCDS11219.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	0	24	294	0	60	0	2.116742e-01	0	11	0	60	2		0	0	0	0	0	2	1	1.000000	24	286	0	60	2		0	0	0	0	60	2	-20.000000	1	1	121412	19	36	1	0	1	1	1.730727	1	0.360000	1.820000	0.219512	0.340000	0.220000	0.480000	0.340000	0.351933	0.340000	0	0.270000	0.420000
WNK4	65266	broad.mit.edu	37	17	40940393	40940393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:40940393C>T	ENST00000246914.5	+	10	2029	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4			35		Breast(137;0.000143)			GAATCTCCGGCGCAGACCCCG	0.577000													Esophageal Squamous(6;201 374 4964 23855 42828)											0							SO:0001583	missense			ENST00000246914.5	1	1	hg19	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358468	0.82243	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.34072	1.38	5.35	5.35	0.76521	.	0.000000	0.49305	D	0.000150	T	0.59459	0.2195	M	0.61703	1.905	0.49798	D	0.999823	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.988;0.988	T	0.61959	-0.6955	10	0.87932	D	0	-15.3513	17.8301	0.88679	0.0:1.0:0.0:0.0	.	14;670;670;670	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	C	670;442;14	ENSP00000246914:R670C	ENSP00000246914:R670C	R	+	1	0	WNK4	38193919	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.092000	0.50207	2.520000	0.84964	0.549000	0.68633	CGC		TCGA-HZ-8005-01A-11D-2201-08	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1	1	0	1	55	242	0	43	1	9.304192e-02	2	1	0	43	2		0	0	0	0	0	2	1	1.000000	55	238	0	43	2		0	0	0	0	43	2	-20.000000	1	1	121412	3	31	1	1	2	3	2.106500	0	0.360000	1.820000	0.366838	0.990000	0.800000	1.000000	1.000000	0.971287	0.990000	1	0.910000	1.000000
ACE	1636	broad.mit.edu	37	17	61561229	61561229	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:61561229C>G	ENST00000290866.4	+	11	1630	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	ACE_ENST00000421982.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.L536V|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme			51				Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGTTTTGTCCTGCAGTTCCA	0.592000																								0							SO:0001583	missense			ENST00000290866.4	1	1	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523209	0.44866	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.37058	1.22;1.22	5.7	5.7	0.88788	.	0.070737	0.64402	D	0.000016	T	0.51329	0.1668	M	0.64404	1.975	0.80722	D	1	B;B	0.33212	0.242;0.402	B;P	0.52481	0.077;0.7	T	0.52881	-0.8516	10	0.49607	T	0.09	-19.1735	8.9337	0.35686	0.1493:0.7772:0.0:0.0736	.	536;536	P12821-2;P12821	.;ACE_HUMAN	V	536	ENSP00000290866:L536V;ENSP00000397593:L536V	ENSP00000290866:L536V	L	+	1	2	ACE	58914961	0.937000	0.31787	0.990000	0.47175	0.945000	0.59286	1.512000	0.35812	2.695000	0.91970	0.462000	0.41574	CTG		TCGA-HZ-8005-01A-11D-2201-08	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2	1	0	1	151	592	0	128	1	9.999882e-01	10	55	0	128	2		0	0	0	0	0	2	1	1.000000	149	586	0	127	2		0	0	0	0	128	2	-3.173795	1	1	0	0		1	1	2	3	2.072958	0	0.360000	1.820000	0.361150	0.990000	0.970000	1.000000	1.000000	0.998412	0.990000	1	0.990000	1.000000
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr17:7576852C>T	ENST00000269305.4	-	9	1183		c.e9+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.?(24)|p.0?(8)|p.I332fs*49(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	AGACTTAGTACCTGAAGGGTG	0.458000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	33	Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1)	GRCh37	CD002536	TP53	D	rs11575997	SO:0001630	splice_region_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361474	0.41801	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6932	0.56988	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517577	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.315000	0.43752	2.462000	0.83206	0.561000	0.74099	.		TCGA-HZ-8005-01A-11D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	57	298	0	55	1	2.537366e-01	6	0	0	55	2	1	1	298	916	0	945	2	1	1.000000	54	293	0	55	2		0	0	0	0	55	2	-20.000000	1	1	0	0		1	0	1	1	1.730727	1	0.360000	1.820000	0.219512	0.720000	0.560000	0.900000	0.720000	0.732052	0.720000	0	0.630000	0.820000
ZNF491	126069	broad.mit.edu	37	19	11917498	11917498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:11917498G>T	ENST00000323169.5	+	3	1061	c.730G>T	c.(730-732)Gaa>Taa	p.E244*	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491			26					AAAACCCTATGAATGTAAACT	0.418000																								0							SO:0001587	stop_gained			ENST00000323169.5	0	1	hg19	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	g	20.5	4.005864	0.74932	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	.	.	.	0.981	-0.104	0.13605	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	2.8933	0.05682	0.191:0.0:0.5452:0.2638	.	.	.	.	X	244;216	.	ENSP00000313443:E244X	E	+	1	0	ZNF491	11778498	0.000000	0.05858	0.031000	0.17742	0.285000	0.27093	-3.284000	0.00527	0.010000	0.14839	0.505000	0.49811	GAA		TCGA-HZ-8005-01A-11D-2201-08	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	0	0	0	11	321	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.998202	11	314	0	45	2		0	0	0	0	45	2	-11.397770	1	1	0	0		1	0	0	0	2.053054	0	0.360000	1.820000	0.355359	0.180000	0.090000	0.310000	0.180000	0.197084	0.180000	0	0.130000	0.250000
PTPRS	5802	broad.mit.edu	37	19	5219432	5219432	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5219432G>A	ENST00000587303.1	-	22	3911	c.3812C>T	c.(3811-3813)cCg>cTg	p.P1271L	PTPRS_ENST00000348075.2_Missense_Mutation_p.P1249L|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1272L|PTPRS_ENST00000592099.1_Missense_Mutation_p.P840L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1271L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P840L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1249L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1267L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	CTGGGGGTCCGGGTTATCCAG	0.592000																								0							SO:0001583	missense			ENST00000587303.1	1	1	hg19	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	4.622	0.115594	0.08831	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54675	0.67;0.66;0.67;0.56;0.64	3.76	3.76	0.43208	.	0.180124	0.36628	U	0.002495	T	0.25044	0.0608	N	0.02960	-0.455	0.46499	D	0.999074	B;B;B;B;B;B	0.17268	0.003;0.003;0.021;0.004;0.012;0.021	B;B;B;B;B;B	0.20767	0.003;0.003;0.031;0.003;0.008;0.006	T	0.10245	-1.0638	10	0.11485	T	0.65	.	11.0988	0.48161	0.0:0.0:0.815:0.185	.	853;840;844;1249;1271;866	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	L	866;1272;1271;1271;1262;1267;1249;853;844;840	ENSP00000361489:P1272L;ENSP00000349932:P1271L;ENSP00000262963:P1267L;ENSP00000269907:P1249L;ENSP00000327313:P840L	ENSP00000262963:P1267L	P	-	2	0	PTPRS	5170432	1.000000	0.71417	0.942000	0.38095	0.861000	0.49209	4.323000	0.59221	1.956000	0.56807	0.557000	0.71058	CCG		TCGA-HZ-8005-01A-11D-2201-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1	83	394	0	68	1	9.953672e-01	2	39	0	68	2		0	0	0	0	0	2	1	1.000000	82	384	1	67	22		0	0	0	0	68	2	-2.559837	1	1	0	0		1	0	0	0	2.053054	0	0.360000	1.820000	0.355359	0.950000	0.770000	1.000000	1.000000	0.940568	0.950000	1	0.860000	1.000000
RANBP3	8498	broad.mit.edu	37	19	5978075	5978075	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:5978075C>G	ENST00000340578.6	-	1	76	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	RANBP3_ENST00000034275.8_Missense_Mutation_p.E7Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E7Q|RANBP3_ENST00000541471.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000591124.1_5'UTR|CTC-232P5.1_ENST00000587836.1_RNA|RANBP3_ENST00000591092.1_Missense_Mutation_p.E7Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3			18					CCCCTACCTTCGTTCGCCAGG	0.701000																								0							SO:0001583	missense			ENST00000340578.6	1	1	hg19	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634073	0.67130	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000541471	T;T;T;T	0.36878	1.23;1.24;2.08;1.53	5.02	5.02	0.67125	.	0.634518	0.15243	U	0.272773	T	0.41465	0.1160	N	0.24115	0.695	0.18873	N	0.999988	D;D;D;D;D;D	0.71674	0.998;0.997;0.997;0.998;0.998;0.997	D;D;D;D;D;D	0.79108	0.992;0.983;0.983;0.992;0.992;0.983	T	0.18713	-1.0328	10	0.07030	T	0.85	.	13.8316	0.63384	0.0:1.0:0.0:0.0	.	7;7;7;7;7;7	F5H4C2;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;RANB3_HUMAN	Q	7	ENSP00000341483:E7Q;ENSP00000404837:E7Q;ENSP00000034275:E7Q;ENSP00000445071:E7Q	ENSP00000034275:E7Q	E	-	1	0	RANBP3	5929075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.697000	0.54764	2.318000	0.78349	0.655000	0.94253	GAA		TCGA-HZ-8005-01A-11D-2201-08	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	1	0	0	17	223	0	61	1	9.758851e-01	14	69	0	61	2		0	0	0	0	0	2	1	0.999951	17	209	0	60	2		0	0	0	0	61	2	-19.975130	1	1	0	0		1	0	0	0	2.053054	0	0.360000	1.820000	0.355359	0.390000	0.230000	0.590000	0.390000	0.407159	0.390000	0	0.310000	0.500000
AZU1	566	broad.mit.edu	37	19	829611	829611	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:829611C>T	ENST00000233997.2	+	3	286	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1			10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			CCTGAGGCGGCGGGAGAGGCA	0.632000																								0							SO:0001583	missense			ENST00000233997.2	1	1	hg19	CCDS12044.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671754	0.47781	0.0	1.16E-4	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.89270	-2.49	1.14	1.14	0.20703	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90700	0.7082	L	0.50333	1.59	0.26930	N	0.966493	D	0.89917	1.0	D	0.69142	0.962	T	0.81048	-0.1109	9	0.62326	D	0.03	.	8.1582	0.31183	0.0:1.0:0.0:0.0	.	89	P20160	CAP7_HUMAN	W	103;89	ENSP00000233997:R89W	ENSP00000233997:R89W	R	+	1	2	AZU1	780611	0.000000	0.05858	0.212000	0.23672	0.359000	0.29487	0.008000	0.13197	0.941000	0.37499	0.491000	0.48974	CGG		TCGA-HZ-8005-01A-11D-2201-08	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	0	0	0	15	596	0	155	0	7.226701e-04	0	2	0	155	2		0	0	0	0	0	2	1	0.999857	15	587	0	153	2		0	0	0	0	155	2	-2.784101	1	1	121408	3	41	1	0	0	0	2.053054	0	0.360000	1.820000	0.355359	0.130000	0.070000	0.220000	0.140000	0.143537	0.130000	0	0.100000	0.180000
ACTL9	284382	broad.mit.edu	37	19	8808115	8808115	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr19:8808115C>T	ENST00000324436.3	-	1	1057	c.937G>A	c.(937-939)Gtc>Atc	p.V313I		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9			36					GAGAGGCCGACGGGTGACAGC	0.647000																								0							SO:0001583	missense			ENST00000324436.3	1	1	hg19	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	1.890	-0.455680	0.04540	.	.	ENSG00000181786	ENST00000324436	D	0.94650	-3.48	4.63	-2.91	0.05631	.	1.123610	0.06989	N	0.821237	D	0.83575	0.5284	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.73263	-0.4038	10	0.87932	D	0	.	4.8829	0.13688	0.3641:0.4335:0.0:0.2024	.	313	Q8TC94	ACTL9_HUMAN	I	313	ENSP00000316674:V313I	ENSP00000316674:V313I	V	-	1	0	ACTL9	8669115	0.000000	0.05858	0.007000	0.13788	0.046000	0.14306	-0.972000	0.03802	-0.140000	0.11394	-0.851000	0.03033	GTC		TCGA-HZ-8005-01A-11D-2201-08	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	1	0	1	82	464	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	79	457	0	69	2		0	0	0	0	69	2	-20.000000	1	1	0	0		1	0	0	0	2.053054	0	0.360000	1.820000	0.355359	0.820000	0.660000	0.990000	0.820000	0.831604	0.820000	0	0.740000	0.910000
MIB2	142678	broad.mit.edu	37	1	1565062	1565062	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:1565062C>T	ENST00000357210.4	+	19	2997	c.2781C>T	c.(2779-2781)gtC>gtT	p.V927V	MIB2_ENST00000378712.1_Missense_Mutation_p.R744C|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000520777.1_Silent_p.V980V|MIB2_ENST00000504599.1_Silent_p.V883V|MIB2_ENST00000378708.1_Silent_p.V833V|MIB2_ENST00000378710.3_Silent_p.V891V|MIB2_ENST00000518681.1_Silent_p.V919V|MIB2_ENST00000505820.2_Silent_p.V984V|MIB2_ENST00000360522.4_Silent_p.V892V|MIB2_ENST00000355826.5_Silent_p.V970V|MMP23B_ENST00000378675.3_5'Flank	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2			18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)			GCCAGGTGGTCGTCAGCAAGA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000357210.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	c	12.92	2.083742	0.36758	.	.	ENSG00000197530	ENST00000378712;ENST00000514234	T	0.68624	-0.34	3.31	1.06	0.20224	.	.	.	.	.	T	0.52885	0.1762	.	.	.	0.80722	D	1	B	0.33904	0.431	B	0.26969	0.075	T	0.55673	-0.8104	8	0.66056	D	0.02	-3.8927	10.1675	0.42888	0.4171:0.5829:0.0:0.0	.	744	B3KXY1	.	C	744;743	ENSP00000367984:R744C	ENSP00000367984:R744C	R	+	1	0	MIB2	1554925	0.438000	0.25602	0.866000	0.34008	0.451000	0.32288	0.089000	0.15002	0.662000	0.31006	0.450000	0.29827	CGT		TCGA-HZ-8005-01A-11D-2201-08	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	29	135	0	33	1	9.570284e-01	11	16	0	33	2		0	0	0	0	0	2	1	1.000000	29	133	0	32	2		0	0	0	0	33	2	-20.000000	1	1	0	0		1	0	1	1	1.937435	0	0.360000	1.820000	0.306308	0.900000	0.630000	1.000000	1.000000	0.886058	0.900000	1	0.750000	1.000000
SPTA1	6708	broad.mit.edu	37	1	158618345	158618345	+	Missense_Mutation	SNP	C	C	T	rs148714399	by1000genomes	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:158618345C>T	ENST00000368147.4	-	26	3848	c.3668G>A	c.(3667-3669)cGa>cAa	p.R1223Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	p.R1223Q(1)		307	all_hematologic(112;0.0378)				CTCATGCCGTCGCTGAAGAGC	0.507000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.794612	0.96952	2.56E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48201	0.82;0.82	5.5	5.5	0.81552	.	0.000000	0.28560	N	0.014914	T	0.68044	0.2958	M	0.84082	2.675	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.70193	-0.4939	10	0.62326	D	0.03	.	18.1469	0.89661	0.0:1.0:0.0:0.0	.	1223	P02549	SPTA1_HUMAN	Q	1223	ENSP00000357130:R1223Q;ENSP00000357129:R1223Q	ENSP00000357129:R1223Q	R	-	2	0	SPTA1	156884969	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.130000	0.77235	2.861000	0.98227	0.655000	0.94253	CGA		TCGA-HZ-8005-01A-11D-2201-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	65	523	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1.000000	64	515	0	105	2		0	0	0	0	105	2	-19.994300	1	1	120874	8	42	1	0	1	1	1.901516	0	0.360000	1.820000	0.304952	0.560000	0.440000	0.700000	0.560000	0.570035	0.560000	0	0.490000	0.630000
ASTN1	460	broad.mit.edu	37	1	177001821	177001821	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:177001821G>A	ENST00000367654.3	-	3	847	c.636C>T	c.(634-636)caC>caT	p.H212H	ASTN1_ENST00000367657.3_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000424564.2_Silent_p.H212H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					TCTCCCGTCCGTGCCCGCCGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000367654.3	1	1	hg19																																																																																					TCGA-HZ-8005-01A-11D-2201-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	45	402	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	1.000000	44	388	0	64	2		0	0	0	0	67	2	-20.000000	1	1	0	0		1	0	1	1	1.892748	1	0.360000	1.820000	0.298092	0.500000	0.370000	0.650000	0.510000	0.516239	0.500000	0	0.430000	0.590000
TOR1AIP1	26092	broad.mit.edu	37	1	179887348	179887348	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:179887348G>A	ENST00000606911.2	+	10	1917	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.A577T|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A592T|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.A455T			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1			18					ACCTGAAAATGCCCTGAAAAG	0.428000																								0							SO:0001583	missense			ENST00000606911.2	1	1	hg19	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	G	7.262	0.605348	0.14002	.	.	ENSG00000143337	ENST00000325993;ENST00000271583;ENST00000435319	T;T	0.27720	1.65;1.65	5.85	1.27	0.21489	.	0.561061	0.19308	N	0.117477	T	0.18882	0.0453	L	0.35723	1.085	0.09310	N	1	B	0.25904	0.137	B	0.23018	0.043	T	0.15867	-1.0422	9	.	.	.	-0.0438	5.7073	0.17915	0.2627:0.0:0.5051:0.2322	.	576	Q5JTV8	TOIP1_HUMAN	T	371;592;576	ENSP00000271583:A592T;ENSP00000393292:A576T	.	A	+	1	0	TOR1AIP1	178153971	0.983000	0.35010	0.011000	0.14972	0.435000	0.31806	1.398000	0.34554	0.355000	0.24131	-0.140000	0.14226	GCC		TCGA-HZ-8005-01A-11D-2201-08	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	1	0	1	65	271	0	43	1	9.999985e-01	21	62	0	43	2		0	0	0	0	0	2	1	1.000000	63	269	0	41	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1	0	1	1	1.892748	1	0.360000	1.820000	0.298092	0.970000	0.770000	1.000000	1.000000	0.947159	0.970000	1	0.860000	1.000000
LGR6	59352	broad.mit.edu	37	1	202273709	202273709	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:202273709C>T	ENST00000367278.3	+	11	1110	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	LGR6_ENST00000255432.7_Missense_Mutation_p.R289W|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R202W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6			36					CGCAGGCATCCGGCTGCTCCC	0.642000																								0							SO:0001583	missense			ENST00000367278.3	1	1	hg19	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486753	0.84854	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.59502	0.86;0.86;0.26;0.86	5.22	4.29	0.51040	.	0.382828	0.27052	N	0.021162	T	0.68723	0.3032	M	0.65677	2.01	0.32304	N	0.564591	D;D;D	0.76494	0.999;0.989;0.996	P;P;P	0.58970	0.799;0.764;0.849	T	0.77247	-0.2658	10	0.72032	D	0.01	.	11.9806	0.53117	0.1802:0.8198:0.0:0.0	.	202;289;341	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	W	341;289;195;195;202	ENSP00000356247:R341W;ENSP00000255432:R289W;ENSP00000402284:R195W;ENSP00000387869:R202W	ENSP00000255432:R289W	R	+	1	2	LGR6	200540332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.719000	0.47244	1.129000	0.42072	0.655000	0.94253	CGG		TCGA-HZ-8005-01A-11D-2201-08	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	1	0	0	25	323	0	59	1	3.073188e-01	5	10	0	59	2		0	0	0	0	0	2	1	1.000000	25	313	0	58	2		0	0	0	0	59	2	-3.017769	1	1	121412	1	32	1	0	1	1	1.892748	1	0.360000	1.820000	0.298092	0.360000	0.240000	0.510000	0.360000	0.373760	0.360000	0	0.290000	0.440000
KIF17	57576	broad.mit.edu	37	1	21031222	21031222	+	Missense_Mutation	SNP	G	G	A	rs150395335		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:21031222G>A	ENST00000247986.2	-	5	1151	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	KIF17_ENST00000400463.3_Missense_Mutation_p.R281C|KIF17_ENST00000375044.1_Missense_Mutation_p.R181C			Q9P2E2	KIF17_HUMAN	kinesin family member 17			50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			TGCTTACAGCGCCCGTCCACC	0.662000																								0							SO:0001583	missense			ENST00000247986.2	1	1	hg19	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735323	0.69189	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.73469	-0.75;-0.75;-0.75	5.11	4.13	0.48395	Kinesin, motor domain (3);	0.000000	0.33161	U	0.005212	D	0.83308	0.5226	M	0.71871	2.18	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.81914	0.988;0.995	D	0.84525	0.0630	10	0.87932	D	0	.	11.0585	0.47933	0.0:0.0:0.67:0.33	.	281;281	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	C	181;281;281	ENSP00000364184:R181C;ENSP00000383311:R281C;ENSP00000247986:R281C	ENSP00000247986:R281C	R	-	1	0	KIF17	20903809	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.315000	0.51951	2.554000	0.86153	0.462000	0.41574	CGC		TCGA-HZ-8005-01A-11D-2201-08	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	1	0	1	66	587	0	109	0	1.060324e-02	0	2	0	109	2		0	0	0	0	0	2	1	1.000000	64	573	0	107	2		0	0	0	0	109	2	-3.075755	1	1	121398	3	34	1	0	1	1	1.945867	0	0.360000	1.820000	0.309005	0.510000	0.400000	0.640000	0.520000	0.524540	0.510000	0	0.450000	0.580000
PTCH2	8643	broad.mit.edu	37	1	45294923	45294923	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:45294923C>T	ENST00000372192.3	-	10	1407	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PTCH2_ENST00000447098.2_Missense_Mutation_p.G426D	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2			50	Acute lymphoblastic leukemia(166;0.155)				CCCGGCAAGGCCCACGGAACC	0.677000									Basal Cell Nevus syndrome															0							SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ENST00000372192.3	1	1	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353281	0.82132	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92446	-3.04;-3.04	5.13	4.16	0.48862	Sterol-sensing domain (1);	0.140689	0.45126	D	0.000382	D	0.97164	0.9073	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.97955	1.0334	10	0.87932	D	0	-18.3065	14.0316	0.64619	0.1518:0.8482:0.0:0.0	.	426;426	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	D	426	ENSP00000389703:G426D;ENSP00000361266:G426D	ENSP00000361266:G426D	G	-	2	0	PTCH2	45067510	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.634000	0.67833	2.397000	0.81536	0.561000	0.74099	GGC		TCGA-HZ-8005-01A-11D-2201-08	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	1	0	1	64	227	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	1.000000	62	224	0	43	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1	0	1	1	1.917152	0	0.360000	1.820000	0.303591	0.990000	0.880000	1.000000	1.000000	0.990749	0.990000	1	0.990000	1.000000
ELTD1	64123	broad.mit.edu	37	1	79387314	79387314	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:79387314G>T	ENST00000370742.3	-	9	1304	c.1241C>A	c.(1240-1242)tCc>tAc	p.S414Y		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1			69					AGGACCAGAGGACATCAAAAT	0.383000																								0							SO:0001583	missense			ENST00000370742.3	1	1	hg19	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620175	0.66787	.	.	ENSG00000162618	ENST00000370742	T	0.38887	1.11	5.32	5.32	0.75619	GPS domain (2);	0.000000	0.85682	D	0.000000	T	0.66117	0.2757	M	0.89030	3	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	T	0.71265	-0.4644	9	.	.	.	.	19.3656	0.94460	0.0:0.0:1.0:0.0	.	414	Q9HBW9	ELTD1_HUMAN	Y	414	ENSP00000359778:S414Y	.	S	-	2	0	ELTD1	79159902	1.000000	0.71417	0.989000	0.46669	0.372000	0.29890	9.568000	0.98166	2.637000	0.89404	0.585000	0.79938	TCC		TCGA-HZ-8005-01A-11D-2201-08	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	1	0	1	63	536	0	97	0	5.810603e-01	0	18	0	97	2		0	0	0	0	0	2	1	1.000000	62	529	0	96	2		0	0	0	0	97	2	-19.692770	1	1	0	0		1	0	1	1	1.917152	0	0.360000	1.820000	0.303591	0.530000	0.410000	0.660000	0.530000	0.541609	0.530000	0	0.470000	0.600000
TNFRSF9	3604	broad.mit.edu	37	1	8000140	8000140	+	Splice_Site	SNP	T	T	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr1:8000140T>G	ENST00000377507.3	-	2	83		c.e2-2			NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9			19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			AATGTCACTCTGCAAAAGATA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000377507.3	0	1	hg19	CCDS92.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1	0	0	1	7	48	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.981849	7	47	0	18	2		0	0	0	0	18	2	-14.403200	1	1	0	0		1	0	1	1	1.937435	0	0.360000	1.820000	0.306308	0.660000	0.300000	1.000000	1.000000	0.678007	0.660000	0	0.460000	0.900000
DYRK1A	1859	broad.mit.edu	37	21	38868512	38868512	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr21:38868512G>T	ENST00000398960.2	+	8	1266	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	DYRK1A_ENST00000339659.4_Missense_Mutation_p.K388N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.K169N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.K397N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.K397N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.K397N	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A			42					TCTTTGAGAAGTTGCCAGATG	0.353000													Melanoma(114;464 1602 31203 43785 45765)											0							SO:0001583	missense			ENST00000398960.2	1	1	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170311	0.78452	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	N	0.16037	0.36	0.80722	D	1	B;P;D;D;P	0.54772	0.447;0.704;0.968;0.96;0.704	B;B;P;P;B	0.57720	0.235;0.235;0.826;0.734;0.235	T	0.17167	-1.0378	10	0.72032	D	0.01	.	18.614	0.91296	0.0:0.0:1.0:0.0	.	397;397;397;388;397	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	N	397;388;397;397;397;397;169	ENSP00000342690:K397N;ENSP00000340373:K388N;ENSP00000319032:K397N;ENSP00000416089:K397N;ENSP00000381932:K397N;ENSP00000381929:K397N;ENSP00000407854:K169N	ENSP00000319032:K397N	K	+	3	2	DYRK1A	37790382	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.700000	0.74619	2.446000	0.82766	0.655000	0.94253	AAG		TCGA-HZ-8005-01A-11D-2201-08	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	1	0	1	31	235	0	50	1	7.844275e-01	4	20	0	50	2		0	0	0	0	0	2	1	1.000000	31	232	0	50	2		0	0	0	0	50	2	-20.000000	1	1	0	0		1	0	1	1	1.869517	1	0.360000	1.820000	0.296703	0.580000	0.410000	0.790000	0.580000	0.598281	0.580000	0	0.490000	0.690000
SREBF2	6721	broad.mit.edu	37	22	42300961	42300961	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42300961C>T	ENST00000361204.4	+	18	3354	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2			38					CGGCGCACCACGCAGAGCACC	0.697000																								0							SO:0001583	missense			ENST00000361204.4	0	1	hg19	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.813359|2.813359	0.50527|0.50527	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000435061|ENST00000361204;ENST00000457567;ENST00000543221	.|T	.|0.19806	.|2.12	5.48|5.48	4.46|4.46	0.54185|0.54185	.|.	.|0.538200	.|0.22119	.|N	.|0.064371	T|T	0.14657|0.14657	0.0354|0.0354	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	0.999998|0.999998	.|P	.|0.40332	.|0.713	.|B	.|0.29353	.|0.101	T|T	0.19976|0.19976	-1.0289|-1.0289	5|10	.|0.44086	.|T	.|0.13	-3.268|-3.268	13.6689|13.6689	0.62412|0.62412	0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742	.|.	.|1063	.|Q12772	.|SRBP2_HUMAN	C|M	252|1063;1063;137	.|ENSP00000354476:T1063M	.|ENSP00000354476:T1063M	R|T	+|+	1|2	0|0	SREBF2|SREBF2	40630907|40630907	0.006000|0.006000	0.16342|0.16342	0.006000|0.006000	0.13384|0.13384	0.089000|0.089000	0.18198|0.18198	2.261000|2.261000	0.43276|0.43276	2.572000|2.572000	0.86782|0.86782	0.491000|0.491000	0.48974|0.48974	CGC|ACG		TCGA-HZ-8005-01A-11D-2201-08	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	1	0	0	7	81	0	13	1	9.242609e-01	14	42	0	13	2		0	0	0	0	0	2	1	0.980505	6	80	0	13	2		0	0	0	0	13	2	-12.202200	1	1	120706	2	28	1	0	0	0	2.030572	0	0.360000	1.820000	0.348269	0.450000	0.200000	0.800000	0.420000	0.474487	0.450000	0	0.310000	0.630000
NFAM1	150372	broad.mit.edu	37	22	42781196	42781196	+	Missense_Mutation	SNP	C	C	T	rs145224229		TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr22:42781196C>T	ENST00000329021.5	-	6	821	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1			4					AGGTTAAGTTCGCCATCATCT	0.502000																								0							SO:0001583	missense			ENST00000329021.5	1	1	hg19	CCDS14034.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297461	0.60086	0.0	1.16E-4	ENSG00000235568	ENST00000329021	T	0.40476	1.03	4.22	2.1	0.27182	.	0.200535	0.22657	U	0.057244	T	0.33323	0.0859	L	0.56769	1.78	0.09310	N	1	B	0.31989	0.35	B	0.23419	0.046	T	0.29058	-1.0024	10	0.87932	D	0	-8.6668	7.32	0.26521	0.0:0.785:0.0:0.215	.	262	Q8NET5	NFAM1_HUMAN	K	262	ENSP00000333680:E262K	ENSP00000333680:E262K	E	-	1	0	NFAM1	41111140	0.194000	0.23325	0.004000	0.12327	0.002000	0.02628	1.355000	0.34068	0.504000	0.28082	-0.254000	0.11334	GAA		TCGA-HZ-8005-01A-11D-2201-08	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1	1	0	0	75	1563	0	184	0	3.737260e-01	0	28	0	184	2		0	0	0	0	0	2	1	1.000000	75	1545	0	183	2		0	0	0	0	184	2	-3.142395	1	1	121412	2	38	1	2	2	4	2.724429	1	0.360000	1.820000	0.517927	0.330000	0.250000	1.000000	0.340000	0.389474	0.330000	0	0.290000	0.400000
APOB	338	broad.mit.edu	37	2	21238344	21238344	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:21238344C>A	ENST00000233242.1	-	22	3533	c.3406G>T	c.(3406-3408)Gag>Tag	p.E1136*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				GCGAGGATCTCACTTCTGGCT	0.473000																								0							SO:0001587	stop_gained			ENST00000233242.1	0	1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	43	9.881007	0.99286	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.9432	0.89031	0.0:1.0:0.0:0.0	.	.	.	.	X	1136	.	ENSP00000233242:E1136X	E	-	1	0	APOB	21091849	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	4.931000	0.63469	2.767000	0.95098	0.655000	0.94253	GAG		TCGA-HZ-8005-01A-11D-2201-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0	0	0	35	484	1	79		0	0	0	1	79	2		0	0	0	0	0	2	1	0.978212	35	478	1	78	21		0	0	0	1	79	2	-7.657893	1	1	0	0		1	0	0	0	2.037542	0	0.360000	1.820000	0.350649	0.360000	0.260000	0.490000	0.370000	0.377002	0.360000	0	0.310000	0.440000
ERBB4	2066	broad.mit.edu	37	2	212578361	212578361	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:212578361A>T	ENST00000342788.4	-	8	1206	c.896T>A	c.(895-897)gTa>gAa	p.V299E	ERBB4_ENST00000402597.1_Missense_Mutation_p.V299E|ERBB4_ENST00000436443.1_Missense_Mutation_p.V299E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4			179		Renal(323;0.06)|Lung NSC(271;0.197)		Afatinib(DB08916)	ACTGGAATCTACCACAAAGTT	0.328000										TSP Lung(8;0.080)														0							SO:0001583	missense			ENST00000342788.4	1	1	hg19	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.779881|4.779881	0.90195|0.90195	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76328|.	0.3972|.	M|M	0.78916|0.78916	2.43|2.43	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.983;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.967;0.999;0.999;1.0|.	T|.	0.77389|.	-0.2606|.	10|.	0.87932|.	D|.	0|.	.|.	15.7982|15.7982	0.78428|0.78428	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	299;299;158;299;299|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	E|K	299|299	ENSP00000342235:V299E;ENSP00000403204:V299E;ENSP00000385565:V299E|.	ENSP00000342235:V299E|.	V|X	-|-	2|1	0|0	ERBB4|ERBB4	212286606|212286606	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.987000|0.987000	0.75469|0.75469	9.339000|9.339000	0.96797|0.96797	2.132000|2.132000	0.65825|0.65825	0.533000|0.533000	0.62120|0.62120	GTA|TAG		TCGA-HZ-8005-01A-11D-2201-08	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	1	0	1	39	213	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	1.000000	39	207	0	35	2		0	0	0	0	35	2	-20.000000	1	1	0	0		1	0	0	0	2.037542	0	0.360000	1.820000	0.350649	0.840000	0.620000	1.000000	1.000000	0.847350	0.840000	0	0.720000	0.970000
CXCR1	3577	broad.mit.edu	37	2	219029412	219029412	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr2:219029412G>A	ENST00000295683.2	-	2	643	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	p.R175C(1)		13				Ketoprofen(DB01009)	TAAGCCTGGCGGAAAAGGAAG	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000295683.2	1	1	hg19	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109016	0.37242	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.38401	1.14	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.179362	0.45361	D	0.000370	T	0.70945	0.3282	H	0.96861	3.895	0.53688	D	0.999976	D	0.89917	1.0	D	0.75020	0.985	T	0.80587	-0.1316	10	0.72032	D	0.01	.	13.0936	0.59178	0.0:0.1617:0.8382:0.0	.	175	P25024	CXCR1_HUMAN	C	175;119	ENSP00000295683:R175C	ENSP00000295683:R175C	R	-	1	0	CXCR1	218737657	0.998000	0.40836	0.144000	0.22314	0.162000	0.22319	2.998000	0.49465	2.432000	0.82394	0.655000	0.94253	CGC		TCGA-HZ-8005-01A-11D-2201-08	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	1	0	0	25	291	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	25	286	0	39	2		0	0	0	0	41	2	-2.966612	1	1	121412	34	44	1	0	0	0	2.037542	0	0.360000	1.820000	0.350649	0.430000	0.280000	0.610000	0.430000	0.445071	0.430000	0	0.350000	0.520000
MCM2	4171	broad.mit.edu	37	3	127325137	127325137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:127325137C>T	ENST00000265056.7	+	5	1094	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2			6					CATCCATGTCCGCATCTCCCA	0.632000																								0							SO:0001583	missense			ENST00000265056.7	1	1	hg19	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552420	0.65311	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.15017	2.46	5.1	5.1	0.69264	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	H	0.94503	3.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.70741	-0.4789	10	0.87932	D	0	-27.6015	18.5426	0.91035	0.0:1.0:0.0:0.0	.	265;154;284	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	C	284;188;265	ENSP00000265056:R284C	ENSP00000265056:R284C	R	+	1	0	MCM2	128807827	1.000000	0.71417	0.965000	0.40720	0.262000	0.26303	5.925000	0.70062	2.363000	0.80096	0.591000	0.81541	CGC		TCGA-HZ-8005-01A-11D-2201-08	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1	1	0	1	315	815	0	157	1	1	60	29	0	157	2		0	0	0	0	0	2	1	1.000000	300	804	0	155	2		0	0	0	0	157	2	-13.038990	1	1	121410	4	36	1	1	2	3	2.382272	1	0.360000	1.820000	0.451773	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZIC1	7545	broad.mit.edu	37	3	147128364	147128364	+	Silent	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr3:147128364G>A	ENST00000282928.4	+	1	1194	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1			63					GCCACGCGTCGCCTAACGTGG	0.716000																								0							SO:0001819	synonymous_variant			ENST00000282928.4	1	1	hg19	CCDS3136.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	1	0	0	56	106	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	55	102	0	26	2		0	0	0	0	27	2	-20.000000	1	1	0	0		1	1	2	3	2.382272	1	0.360000	1.820000	0.451773	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
NPY5R	4889	broad.mit.edu	37	4	164272416	164272416	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr4:164272416C>A	ENST00000515560.1	+	4	2513	c.991C>A	c.(991-993)Cca>Aca	p.P331T	NPY5R_ENST00000506953.1_Missense_Mutation_p.P331T|NPY5R_ENST00000338566.3_Missense_Mutation_p.P331T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5			42	all_hematologic(180;0.166)	Prostate(90;0.109)			TAAGTTCATACCAGGGGTCCC	0.403000													Melanoma(139;1287 1774 9781 19750 25599)											0							SO:0001583	missense			ENST00000515560.1	1	1	hg19	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321968	0.60634	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.71222	-0.55;-0.55;-0.55	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001140	T	0.81522	0.4840	M	0.68952	2.095	0.48696	D	0.999694	D	0.89917	1.0	D	0.81914	0.995	T	0.77571	-0.2538	10	0.18276	T	0.48	.	18.061	0.89377	0.0:1.0:0.0:0.0	.	331	Q15761	NPY5R_HUMAN	T	331	ENSP00000339377:P331T;ENSP00000423917:P331T;ENSP00000423474:P331T	ENSP00000339377:P331T	P	+	1	0	NPY5R	164491866	0.995000	0.38212	0.998000	0.56505	0.970000	0.65996	3.986000	0.56937	2.433000	0.82419	0.467000	0.42956	CCA		TCGA-HZ-8005-01A-11D-2201-08	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	1	0	1	80	245	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	79	238	0	64	2		0	0	0	0	66	2	-20.000000	1	1	0	0		1	0	2	2	2.057327	1	0.360000	1.820000	0.360000	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	0.990000	1.000000
LHFPL2	10184	broad.mit.edu	37	5	77805805	77805805	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr5:77805805G>A	ENST00000515007.2	-	2	542	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	LHFPL2_ENST00000380345.2_Missense_Mutation_p.R78W			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2			6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)			AGCGTGTCCCGCTGGAAGTGC	0.687000																								0							SO:0001583	missense			ENST00000515007.2	1	1	hg19	CCDS4042.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889280	0.72524	.	.	ENSG00000145685	ENST00000380345;ENST00000515007	T;T	0.72725	-0.68;-0.68	5.52	3.7	0.42460	.	0.175378	0.49305	D	0.000158	T	0.63780	0.2540	L	0.47716	1.5	0.45390	D	0.998379	B	0.11235	0.004	B	0.10450	0.005	T	0.57631	-0.7778	10	0.37606	T	0.19	-26.9083	13.8039	0.63218	0.0:0.0:0.4853:0.5147	.	78	Q6ZUX7	LHPL2_HUMAN	W	78	ENSP00000369702:R78W;ENSP00000425906:R78W	ENSP00000369702:R78W	R	-	1	2	LHFPL2	77841561	0.002000	0.14202	0.906000	0.35671	0.907000	0.53573	0.772000	0.26647	0.675000	0.31264	-0.122000	0.15005	CGG		TCGA-HZ-8005-01A-11D-2201-08	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	1	0	1	28	129	0	32	1	9.968698e-01	10	35	0	32	2		0	0	0	0	0	2	1	1.000000	26	127	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	0	0	2.013809	0	0.360000	1.820000	0.341021	0.950000	0.660000	1.000000	1.000000	0.919804	0.950000	1	0.800000	1.000000
RNF182	221687	broad.mit.edu	37	6	13977539	13977539	+	Silent	SNP	C	C	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:13977539C>G	ENST00000488300.1	+	3	712	c.189C>G	c.(187-189)gtC>gtG	p.V63V	RNF182_ENST00000544682.1_Silent_p.V63V|RNF182_ENST00000537388.1_Silent_p.V63V|RNF182_ENST00000537663.1_Silent_p.V63V	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182			15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)		GTGTCATTGTCTGTCCTTTCT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000488300.1	1	1	hg19	CCDS4531.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2	1	0	1	160	808	0	122	0	0	0	1	0	122	2		0	0	0	0	0	2	1	1.000000	160	801	0	121	2		0	0	0	0	122	2	-20.000000	1	1	0	0		1	2	2	4	2.340783	1	0.360000	1.820000	0.435228	0.990000	0.900000	1.000000	1.000000	0.989885	0.990000	1	0.970000	1.000000
DEK	7913	broad.mit.edu	37	6	18264096	18264096	+	Missense_Mutation	SNP	C	C	G	rs147127829	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:18264096C>G	ENST00000397239.3	-	2	570	c.123G>C	c.(121-123)gaG>gaC	p.E41D	DEK_ENST00000244776.7_Missense_Mutation_p.E41D	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene			7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		cctcctcctcctcgtcgtcct	0.562000			T	NUP214	AML										Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0							SO:0001583	missense			ENST00000397239.3	1	0	hg19	CCDS34344.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.267	0.417416	0.11870	0.001816	0.0	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000515742	T;T;T	0.51817	0.76;0.85;0.69	4.57	-3.65	0.04502	.	0.440668	0.20131	N	0.098587	T	0.09598	0.0236	L	0.48642	1.525	0.22880	N	0.998611	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38585	-0.9654	10	0.12766	T	0.61	-5.206	1.3254	0.02124	0.2162:0.3697:0.1081:0.306	.	41;41	B4DN37;P35659	.;DEK_HUMAN	D	41;41;46	ENSP00000380414:E41D;ENSP00000244776:E41D;ENSP00000423553:E46D	ENSP00000244776:E41D	E	-	3	2	DEK	18372075	0.003000	0.15002	0.050000	0.19076	0.529000	0.34654	-2.192000	0.01245	-1.460000	0.01911	-2.294000	0.00264	GAG		TCGA-HZ-8005-01A-11D-2201-08	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4	1	0	0	20	412	0	56	1	9.991461e-01	7	226	0	56	2		0	0	0	0	0	2	1	0.999996	12	425	0	58	2		0	0	0	0	56	2	-1.187281	0	0	121406	68	45	1	2	2	4	2.340783	1	0.360000	1.820000	0.435228	0.310000	0.180000	1.000000	0.290000	0.460678	0.310000	0	0.240000	1.000000
MAPK13	5603	broad.mit.edu	37	6	36098379	36098379	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36098379A>G	ENST00000211287.4	+	1	282	c.20A>G	c.(19-21)aAg>aGg	p.K7R	MAPK13_ENST00000373766.5_Missense_Mutation_p.K7R|MAPK13_ENST00000373759.1_5'Flank|MAPK13_ENST00000373761.6_Missense_Mutation_p.K7R	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13			12					ATCCGGAAAAAGGGCTTCTAC	0.697000																								0							SO:0001583	missense			ENST00000211287.4	1	0	hg19	CCDS4818.1	.	.	.	.	.	.	.	.	.	.	A	6.131	0.392389	0.11638	.	.	ENSG00000156711	ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766	T;T;T	0.70869	-0.34;-0.52;-0.18	4.3	-1.34	0.09143	Protein kinase-like domain (1);	0.667620	0.13434	N	0.388180	T	0.26268	0.0641	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29366	-1.0014	10	0.26408	T	0.33	-6.0464	10.1854	0.42995	0.3399:0.0:0.6601:0.0	.	7	O15264	MK13_HUMAN	R	7	ENSP00000362866:K7R;ENSP00000211287:K7R;ENSP00000362871:K7R	ENSP00000211287:K7R	K	+	2	0	MAPK13	36206357	0.996000	0.38824	0.761000	0.31378	0.527000	0.34593	0.909000	0.28558	-0.146000	0.11274	-0.415000	0.06103	AAG		TCGA-HZ-8005-01A-11D-2201-08	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040328.1	1	0	0	3	104	0	26	0	9.388648e-01	0	188	0	26	2		0	0	0	0	0	2	1	0.803465	3	101	0	25	2		0	0	0	0	26	2	-5.646289	1	0	120424	10	17	1	2	2	4	2.348148	1	0.360000	1.820000	0.437016	0.250000	0.060000	1.000000	0.170000	0.404741	0.250000	0	0.120000	1.000000
PPIL1	51645	broad.mit.edu	37	6	36824364	36824364	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:36824364G>A	ENST00000373699.5	-	3	529	c.278C>T	c.(277-279)aCg>aTg	p.T93M	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1			2					ACACTTACCCGTGAATTTCAA	0.463000																								0							SO:0001583	missense			ENST00000373699.5	1	1	hg19	CCDS4826.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079101	0.94050	.	.	ENSG00000137168	ENST00000373699	T	0.22539	1.95	5.73	5.73	0.89815	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.84846	2.72	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	T	0.47394	-0.9121	10	0.66056	D	0.02	.	17.4578	0.87612	0.0:0.0:1.0:0.0	.	93	Q9Y3C6	PPIL1_HUMAN	M	93	ENSP00000362803:T93M	ENSP00000362803:T93M	T	-	2	0	PPIL1	36932342	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	9.640000	0.98453	2.719000	0.93026	0.650000	0.86243	ACG		TCGA-HZ-8005-01A-11D-2201-08	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1	1	0	1	71	247	0	37	1	1	39	71	0	37	2		0	0	0	0	0	2	1	1.000000	70	245	0	37	2		0	0	0	0	37	2	-3.993573	1	1	121412	1	30	1	2	2	4	2.348148	1	0.360000	1.820000	0.437016	0.990000	0.990000	1.000000	1.000000	0.999969	0.990000	1	0.990000	1.000000
TCTE1	202500	broad.mit.edu	37	6	44255545	44255545	+	Silent	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr6:44255545C>A	ENST00000371505.4	-	2	140	c.18G>T	c.(16-18)acG>acT	p.T6T	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1			34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		ATGCTGATGTCGTTACGGTAT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000371505.4	0	1	hg19	CCDS4910.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	0	0	0	10	254	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.996468	10	245	0	42	2		0	0	0	0	45	2	-3.772004	1	1	0	0		1	2	2	4	2.348148	1	0.360000	1.820000	0.437016	0.270000	0.120000	1.000000	0.240000	0.428610	0.270000	0	0.190000	1.000000
AHR	196	broad.mit.edu	37	7	17378954	17378954	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:17378954C>A	ENST00000242057.4	+	10	2148	c.1505C>A	c.(1504-1506)cCg>cAg	p.P502Q	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	p.P502L(1)		33	Lung NSC(10;0.0392)|all_lung(11;0.0754)			Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AATACTGCACCGATGGGAAAT	0.403000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000242057.4	1	1	hg19	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514694	0.27123	.	.	ENSG00000106546	ENST00000242057	T	0.05786	3.39	5.7	4.82	0.62117	.	0.398744	0.27836	N	0.017645	T	0.25901	0.0631	M	0.86953	2.85	0.19575	N	0.999967	P	0.42556	0.783	P	0.55577	0.779	T	0.05241	-1.0897	10	0.54805	T	0.06	.	15.2134	0.73244	0.0:0.9322:0.0:0.0678	.	502	P35869	AHR_HUMAN	Q	502	ENSP00000242057:P502Q	ENSP00000242057:P502Q	P	+	2	0	AHR	17345479	0.480000	0.25933	0.002000	0.10522	0.004000	0.04260	6.452000	0.73485	1.548000	0.49413	0.650000	0.86243	CCG		TCGA-HZ-8005-01A-11D-2201-08	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	1	0	1	153	640	1	101	1	9.999977e-01	41	82	1	101	6		0	0	0	0	0	2	1	1.000000	150	633	1	101	24		0	0	0	1	101	2	-2.612242	1	1	0	0		1	2	4	6	2.491136	1	0.360000	1.820000	0.473684	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	0.990000	1.000000
CALN1	83698	broad.mit.edu	37	7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:71252834C>T	ENST00000329008.5	-	6	884	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000395275.2_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1			32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)			ATAGCAAAGGCGCATATGAGG	0.567000																								0							SO:0001583	missense			ENST00000329008.5	1	1	hg19	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	32	5.176133	0.94846	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.80123	-1.1;-1.34;-1.1;-1.1;-1.34;-1.1	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86975	0.2100	10	0.87932	D	0	-25.7589	17.5493	0.87872	0.0:1.0:0.0:0.0	.	196;196	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	T	196;238;196;196;238;196	ENSP00000332498:A196T;ENSP00000378690:A238T;ENSP00000378691:A196T;ENSP00000410704:A196T;ENSP00000391882:A238T;ENSP00000384354:A196T	ENSP00000332498:A196T	A	-	1	0	CALN1	70890770	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.724000	0.84798	2.372000	0.80975	0.561000	0.74099	GCC		TCGA-HZ-8005-01A-11D-2201-08	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	1	0	0	27	442	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	26	432	0	55	2		0	0	0	0	55	2	-6.464724	1	1	0	0		1	0	3	3	2.227974	1	0.360000	1.820000	0.413812	0.370000	0.240000	1.000000	0.350000	0.514755	0.370000	0	0.290000	1.000000
GJC3	349149	broad.mit.edu	37	7	99527179	99527179	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr7:99527179C>T	ENST00000312891.2	-	1	64	c.65G>A	c.(64-66)cGc>cAc	p.R22H	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa			9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				AAGCAAGAGGCGCCCCACGGG	0.622000																								0							SO:0001583	missense			ENST00000312891.2	1	1	hg19	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179225	0.38511	0.0	5.91E-4	ENSG00000176402	ENST00000312891	D	0.99252	-5.63	4.63	0.835	0.18886	Connexin, N-terminal (1);	0.744172	0.11452	N	0.562693	D	0.97648	0.9229	M	0.64080	1.96	0.28916	N	0.892435	B	0.26081	0.141	B	0.20184	0.028	D	0.96749	0.9552	10	0.66056	D	0.02	.	6.7104	0.23274	0.0:0.5183:0.0:0.4817	.	22	Q8NFK1	CXG3_HUMAN	H	22	ENSP00000325775:R22H	ENSP00000325775:R22H	R	-	2	0	GJC3	99365115	1.000000	0.71417	0.885000	0.34714	0.163000	0.22366	2.491000	0.45303	0.298000	0.22638	0.655000	0.94253	CGC		TCGA-HZ-8005-01A-11D-2201-08	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	0	0	0	14	224	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.999737	13	219	0	31	2		0	0	0	0	33	2	-12.248010	1	1	120252	69	47	1	0	3	3	2.260329	1	0.360000	1.820000	0.420500	0.400000	0.210000	1.000000	0.360000	0.527307	0.400000	0	0.290000	1.000000
ODF1	4956	broad.mit.edu	37	8	103564103	103564103	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:103564103C>A	ENST00000285402.3	+	1	304	c.148C>A	c.(148-150)Cac>Aac	p.H50N		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1			20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		CTGTGACTTGCACCCATATCC	0.493000																								0							SO:0001583	missense			ENST00000285402.3	1	1	hg19	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275978	0.80580	.	.	ENSG00000155087	ENST00000285402	T	0.39406	1.08	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000022	T	0.44052	0.1275	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.53464	-0.8435	10	0.87932	D	0	-42.5575	15.6153	0.76760	0.0:1.0:0.0:0.0	.	50	Q14990	ODFP1_HUMAN	N	50	ENSP00000285402:H50N	ENSP00000285402:H50N	H	+	1	0	ODF1	103633279	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.754000	0.55189	2.750000	0.94351	0.655000	0.94253	CAC		TCGA-HZ-8005-01A-11D-2201-08	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1	1	0	0	117	1529	0	225		0	0	0	0	225	2		0	0	0	0	0	2	1	1.000000	115	1507	0	220	2		0	0	0	0	225	2	-19.273470	1	1	0	0		1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.410000	0.330000	1.000000	0.410000	0.500891	0.410000	0	0.370000	0.500000
ENY2	56943	broad.mit.edu	37	8	110348356	110348356	+	Splice_Site	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:110348356G>A	ENST00000520147.1	+	2	63		c.e2-1		ENY2_ENST00000521662.1_Splice_Site|ENY2_ENST00000522407.1_Intron|NUDCD1_ENST00000239690.4_5'Flank|ENY2_ENST00000521688.1_Splice_Site					enhancer of yellow 2 homolog (Drosophila)			4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)		TTGATGTCCAGGTTAGCAAGA	0.363000																								0							SO:0001630	splice_region_variant			ENST00000520147.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.48	3.400636	0.62177	.	.	ENSG00000120533	ENST00000521688	.	.	.	5.34	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2373	0.65934	0.0:0.15:0.85:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENY2	110417532	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.882000	0.28186	2.473000	0.83533	0.655000	0.94253	.		TCGA-HZ-8005-01A-11D-2201-08	ENY2-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381006.1	1	0	1	31	169	0	18	1	7.642597e-01	12	5	0	18	2		0	0	0	0	0	2	1	1.000000	31	168	0	18	2		0	0	0	0	18	2	-20.000000	1	1	0	0		1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.920000	0.630000	1.000000	1.000000	0.898633	0.920000	1	0.760000	1.000000
ZFAT	57623	broad.mit.edu	37	8	135545161	135545161	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:135545161G>A	ENST00000377838.3	-	12	3205	c.3031C>T	c.(3031-3033)Cgg>Tgg	p.R1011W	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.R999W|ZFAT_ENST00000429442.2_Missense_Mutation_p.R999W|ZFAT_ENST00000523399.1_Missense_Mutation_p.R949W|ZFAT_ENST00000520356.1_Missense_Mutation_p.R999W|ZFAT_ENST00000520727.1_Missense_Mutation_p.R999W	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing			54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)		TTGTAGTGCCGCTTCAGAGAG	0.592000																								0							SO:0001583	missense			ENST00000377838.3	0	1	hg19	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827545	0.71143	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.38	0.744	0.18353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.55289	0.1911	M	0.80847	2.515	0.51233	D	0.999912	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	T	0.63014	-0.6731	10	0.72032	D	0.01	-26.6419	14.7157	0.69265	0.0:0.0:0.3889:0.6111	.	130;949;999;1011	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	W	999;999;999;1011;999;898;949	ENSP00000427879:R999W;ENSP00000427831:R999W;ENSP00000394501:R999W;ENSP00000367069:R1011W;ENSP00000428483:R999W;ENSP00000429091:R949W	ENSP00000326997:R898W	R	-	1	2	ZFAT	135614343	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.461000	0.35255	0.203000	0.20529	0.585000	0.79938	CGG		TCGA-HZ-8005-01A-11D-2201-08	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	0	0	0	3	58	0	18	0	1.388047e-01	0	10	0	18	2		0	0	0	0	0	2	1	0.807313	3	57	0	18	2		0	0	0	0	18	2	-4.012111	1	0	120956	2	24	1	0	1	1	1.700728	1	0.360000	1.820000	0.219512	0.240000	0.070000	0.550000	0.210000	0.272615	0.240000	0	0.140000	0.390000
DLGAP2	9228	broad.mit.edu	37	8	1497636	1497636	+	Silent	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:1497636C>T	ENST00000421627.2	+	2	911	c.777C>T	c.(775-777)tcC>tcT	p.S259S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			GGGACCTGTCCCTCAAGACCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000421627.2	0	1	hg19	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	6.784	0.513698	0.12944	2.37E-4	9.41E-4	ENSG00000198010	ENST00000520901	.	.	.	5.3	-8.73	0.00841	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61720	-0.7005	4	.	.	.	-9.8398	12.3303	0.55035	0.6041:0.1817:0.2142:0.0	.	.	.	.	L	276	.	.	P	+	2	0	DLGAP2	1485043	0.000000	0.05858	0.113000	0.21522	0.613000	0.37349	-1.696000	0.01912	-1.352000	0.02194	-0.152000	0.13540	CCC		TCGA-HZ-8005-01A-11D-2201-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	0	0	0	13	505	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.999512	14	499	0	106	2		0	0	0	0	107	2	-2.974017	1	1	121092	33	49	1	0	1	1	1.705796	1	0.360000	1.820000	0.221222	0.110000	0.060000	0.190000	0.110000	0.122081	0.110000	0	0.080000	0.150000
RP1	6101	broad.mit.edu	37	8	55541791	55541791	+	Silent	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:55541791A>G	ENST00000220676.1	+	4	5497	c.5349A>G	c.(5347-5349)gtA>gtG	p.V1783V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)			169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		GCAGTGAGGTACCATATTCAC	0.443000													Colon(91;1014 1389 7634 14542 40420)											0							SO:0001819	synonymous_variant			ENST00000220676.1	1	1	hg19	CCDS6160.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	1	0	0	12	263	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.999054	12	257	0	35	2		0	0	0	0	35	2	-13.861650	1	1	0	0		1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.270000	0.140000	1.000000	0.250000	0.379424	0.270000	0	0.190000	0.470000
STAU2	27067	broad.mit.edu	37	8	74516052	74516052	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:74516052G>A	ENST00000521451.1	-	5	654	c.278C>T	c.(277-279)gCg>gTg	p.A93V	STAU2_ENST00000355780.5_Missense_Mutation_p.A281V|STAU2_ENST00000523558.1_Missense_Mutation_p.A141V|STAU2_ENST00000522695.1_Missense_Mutation_p.A281V|STAU2_ENST00000524300.1_Missense_Mutation_p.A313V|STAU2_ENST00000519961.1_Missense_Mutation_p.A313V|STAU2_ENST00000517542.1_Missense_Mutation_p.A275V|STAU2_ENST00000521210.1_Missense_Mutation_p.A209V|STAU2_ENST00000522509.1_Missense_Mutation_p.A281V|STAU2_ENST00000521727.1_Missense_Mutation_p.A293V			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2			19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		TTGAATTTGCGCCAGGCGGCT	0.403000																								0							SO:0001583	missense			ENST00000521451.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.4	4.732859	0.89482	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	T;T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.80757	0.4684	N	0.17674	0.51	0.80722	D	1	P;D;D;D;P;D;D;D	0.89917	0.951;0.968;1.0;0.968;0.842;0.999;1.0;0.995	B;P;D;P;B;D;D;D	0.91635	0.32;0.63;0.999;0.503;0.214;0.995;0.996;0.932	T	0.76694	-0.2865	10	0.20519	T	0.43	-21.0875	19.8791	0.96888	0.0:0.0:1.0:0.0	.	293;209;141;209;281;313;281;313	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	V	281;313;141;209;281;313;293;93;281;275;141	ENSP00000428456:A281V;ENSP00000428756:A313V;ENSP00000428741:A141V;ENSP00000429173:A209V;ENSP00000348026:A281V;ENSP00000430907:A313V;ENSP00000429973:A293V;ENSP00000428476:A93V;ENSP00000427977:A281V;ENSP00000431111:A275V;ENSP00000429005:A141V	ENSP00000344030:A141V	A	-	2	0	STAU2	74678606	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.218000	0.95166	2.706000	0.92434	0.585000	0.79938	GCG		TCGA-HZ-8005-01A-11D-2201-08	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	1	0	1	87	272	0	57	1	9.999992e-01	24	43	0	57	2		0	0	0	0	0	2	1	1.000000	85	271	0	57	2		0	0	0	0	57	2	-4.790735	1	1	121412	3	36	1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.990000	0.990000	1.000000	1.000000	0.999987	0.990000	1	0.990000	1.000000
FABP12	646486	broad.mit.edu	37	8	82439272	82439272	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:82439272C>T	ENST00000360464.4	-	3	393	c.331G>A	c.(331-333)Gat>Aat	p.D111N	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12			4					ATTTTCCCATCCACCAGCTTT	0.413000																								0							SO:0001583	missense			ENST00000360464.4	1	1	hg19	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385251	0.61956	.	.	ENSG00000197416	ENST00000360464	T	0.08282	3.11	5.18	5.18	0.71444	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.154736	0.56097	D	0.000026	T	0.11495	0.0280	L	0.52823	1.66	0.50467	D	0.999878	B	0.10296	0.003	B	0.17979	0.02	T	0.02417	-1.1162	10	0.54805	T	0.06	.	14.592	0.68373	0.1464:0.8536:0.0:0.0	.	111	A6NFH5	FBP12_HUMAN	N	111	ENSP00000353650:D111N	ENSP00000353650:D111N	D	-	1	0	FABP12	82601827	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.114000	0.64648	2.679000	0.91253	0.655000	0.94253	GAT		TCGA-HZ-8005-01A-11D-2201-08	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	1	0	0	8	102	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	0.989069	8	99	0	26	2		0	0	0	0	26	2	-5.416659	1	1	0	0		1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.460000	0.210000	1.000000	0.410000	0.538200	0.460000	0	0.320000	0.850000
LRRCC1	85444	broad.mit.edu	37	8	86038981	86038981	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr8:86038981G>A	ENST00000360375.3	+	9	1479	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	LRRCC1_ENST00000414626.2_Missense_Mutation_p.E424K	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1			43					TGAGCAAGCCGAAAATAAACT	0.373000																								0							SO:0001583	missense			ENST00000360375.3	1	0	hg19	CCDS43750.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	26.0	4.693391	0.88735	0.005914	2.44E-4	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.32272	1.46;1.47	5.56	5.56	0.83823	.	0.000000	0.36893	N	0.002360	T	0.41026	0.1141	M	0.66939	2.045	0.43003	D	0.994525	D;D;D;D	0.89917	0.999;0.999;1.0;0.99	D;D;D;P	0.65010	0.915;0.931;0.915;0.596	T	0.39742	-0.9599	10	0.05721	T	0.95	-23.8999	19.1212	0.93364	0.0:0.0:1.0:0.0	.	351;424;351;444	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	K	444;424	ENSP00000353538:E444K;ENSP00000394695:E424K	ENSP00000353538:E444K	E	+	1	0	LRRCC1	86226233	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.892000	0.69790	2.632000	0.89209	0.655000	0.94253	GAA		TCGA-HZ-8005-01A-11D-2201-08	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	1	0	1	61	294	0	76	1	9.818066e-01	8	25	0	76	2		0	0	0	0	0	2	1	1.000000	58	278	0	76	2		0	0	0	0	76	2	-3.065198	1	1	120822	112	51	1	1	2	3	2.149319	0	0.360000	1.820000	0.382239	0.990000	0.780000	1.000000	1.000000	0.958901	0.990000	1	0.880000	1.000000
TLR4	7099	broad.mit.edu	37	9	120475078	120475078	+	Silent	SNP	A	A	G			TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chr9:120475078A>G	ENST00000355622.6	+	3	773	c.672A>G	c.(670-672)aaA>aaG	p.K224K	TLR4_ENST00000394487.4_Silent_p.K184K|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4			103				Naloxone(DB01183)	GTGCATTTAAAGAAATTAGGC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000355622.6	1	1	hg19	CCDS6818.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	1	0	0	37	342	0	81	0	4.454561e-01	0	15	0	81	2		0	0	0	0	0	2	1	1.000000	37	337	0	81	2		0	0	0	0	81	2	-20.000000	1	1	0	0		1	0	1	1	1.683078	1	0.360000	1.820000	0.219512	0.440000	0.310000	0.580000	0.440000	0.450108	0.440000	0	0.370000	0.520000
GPRASP1	9737	broad.mit.edu	37	X	101910080	101910080	+	Silent	SNP	C	C	T	rs144058687	byFrequency	TCGA-HZ-8005-01A-11D-2201-08	TCGA-HZ-8005-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e58f9b-f9f5-4dea-a34a-bb940edba3cc	fe7724ac-a5b6-4031-85fb-6ae0cde16caf	g.chrX:101910080C>T	ENST00000361600.5	+	5	2040	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	GPRASP1_ENST00000415986.1_Silent_p.D413D|GPRASP1_ENST00000444152.1_Silent_p.D413D|GPRASP1_ENST00000537097.1_Silent_p.D413D|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1			60					GGGCTACAGACGAGTCCAGCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000361600.5	1	1	hg19	CCDS35352.1																																																																																				TCGA-HZ-8005-01A-11D-2201-08	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	1	0	1	112	238	0	53	0	7.107674e-01	0	7	0	53	2		0	0	0	0	0	2	1	1.000000	111	234	0	52	2		0	0	0	0	53	2	-20.000000	1	1	121410	6	38	1	0	1	1			0.360000	1.820000	0.360000	0.870000	0.740000	0.990000	0.880000	0.879308	0.870000	1	0.810000	0.940000
