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
FBXW7	55294	broad.mit.edu	37	4	153249472	153249473	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr4:153249472_153249473insAA	ENST00000281708.4	-	9	2534_2535	c.1305_1306insTT	c.(1303-1308)attagtfs	p.S436fs	FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S318fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S356fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S436fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S260fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S436fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	p.?(1)		462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)			GTAGATCCACTAATGATGATGT	0.416000			Mis, N, D, F		colorectal, endometrial, T-ALL										Rec	yes		4	4q31.3	55294	F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)		E, L	1	Unknown(1)						SO:0001589	frameshift_variant			ENST00000281708.4	0	1	hg19	CCDS3777.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1	0	0	0	88	737	0	382	0	4.147544e-01	0	13	0	382	2								1	1.000000	90	729	0	379	2								-20.000000	1	1	0	0		1	1	2	3	2.019574	0	0.250000	2.020000	0.256506	0.860000	0.690000	1.000000	1.000000	0.870340	0.860000	1	7.700000e-01	9.700000e-01
FOXI2	399823	broad.mit.edu	37	10	129536020	129536020	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:129536020G>C	ENST00000388920.4	+	1	522	c.483G>C	c.(481-483)aaG>aaC	p.K161N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2			4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)			ACTGCTTCAAGAAGGTGCCCC	0.662000													Esophageal Squamous(54;1038 1280 2528 31583)											0							SO:0001583	missense			ENST00000388920.4	0	1	hg19	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973821	0.74246	.	.	ENSG00000186766	ENST00000388920	D	0.95482	-3.72	4.14	3.24	0.37175	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	L	0.59436	1.845	0.58432	D	0.999996	D	0.76494	0.999	D	0.72625	0.978	D	0.95775	0.8812	10	0.72032	D	0.01	.	10.503	0.44817	0.0964:0.0:0.9036:0.0	.	161	Q6ZQN5	FOXI2_HUMAN	N	161	ENSP00000373572:K161N	ENSP00000373572:K161N	K	+	3	2	FOXI2	129426010	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.971000	0.29396	0.954000	0.37851	0.462000	0.41574	AAG		TCGA-2J-AABT-01A-11D-A40W-08	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2	0	0	0	15	62	0	42		0	0	0	0	42	2								1	0.999814	15	53	0	35	2								-20.000000	1	1	0	0		1	0	1	1	1.993395	0	0.250000	2.020000	0.248120	0.990000	0.920000	1.000000	1.000000	0.995222	0.990000	1	9.900000e-01	1
TUBGCP2	10844	broad.mit.edu	37	10	135106041	135106041	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:135106041C>T	ENST00000252936.3	-	7	1215	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000417178.2_Silent_p.E262E|TUBGCP2_ENST00000368563.2_Silent_p.E392E|TUBGCP2_ENST00000543663.1_Silent_p.E420E|RP11-122K13.12_ENST00000424450.1_RNA			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2			35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)			AGATCCACTTCTCCAGAACCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000252936.3	0	1	hg19	CCDS7676.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1	0	0	0	24	160	0	75	1	9.999456e-01	20	89	0	75	2								1	1.000000	24	156	0	74	2								-20.000000	1	1	0	0		1	0	1	1	1.993395	0	0.250000	2.020000	0.248120	0.990000	0.690000	1.000000	1.000000	0.947727	0.990000	1	8.500000e-01	1
ARMC3	219681	broad.mit.edu	37	10	23297251	23297251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr10:23297251C>T	ENST00000298032.5	+	15	1960	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	ARMC3_ENST00000409983.3_Nonsense_Mutation_p.R626*|ARMC3_ENST00000376528.4_Nonsense_Mutation_p.R363*|ARMC3_ENST00000409049.3_Nonsense_Mutation_p.R626*	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3			47					TGGTTATGGACGAAGTATTTC	0.279000																								0							SO:0001587	stop_gained			ENST00000298032.5	0	1	hg19	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	c	37	6.353931	0.97498	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000409049;ENST00000376528	.	.	.	5.56	3.7	0.42460	.	1.341930	0.04522	N	0.384715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-12.0527	7.0747	0.25197	0.1702:0.7422:0.0:0.0875	.	.	.	.	X	626;626;626;363	.	ENSP00000298032:R626X	R	+	1	2	ARMC3	23337257	0.922000	0.31269	0.988000	0.46212	0.855000	0.48748	0.118000	0.15605	0.688000	0.31529	0.563000	0.77884	CGA		TCGA-2J-AABT-01A-11D-A40W-08	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	0	0	0	8	135	0	86	0	0	0	1	0	86	2								1	0.989424	8	133	0	85	2								-11.583020	1	1	119462	1	18	1	0	0	0	1.975541	0	0.250000	2.020000	0.240506	0.450000	0.210000	0.790000	0.430000	0.479376	0.450000	0	3.200000e-01	6.200000e-01
OR6T1	219874	broad.mit.edu	37	11	123813765	123813765	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr11:123813765G>A	ENST00000321252.2	-	1	815	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1			40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TCTGACATACGAATGTAGAGA	0.517000																								0							SO:0001583	missense			ENST00000321252.2	0	1	hg19	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.036985	0.19669	.	.	ENSG00000181499	ENST00000321252	T	0.35789	1.29	3.39	0.418	0.16429	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.51160	0.1658	M	0.71920	2.185	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36696	-0.9737	9	0.87932	D	0	-19.2553	3.5334	0.07785	0.3556:0.1954:0.449:0.0	.	261	Q8NGN1	OR6T1_HUMAN	C	261	ENSP00000325203:R261C	ENSP00000325203:R261C	R	-	1	0	OR6T1	123318975	0.000000	0.05858	0.006000	0.13384	0.169000	0.22640	-0.190000	0.09615	-0.114000	0.11936	0.563000	0.77884	CGT		TCGA-2J-AABT-01A-11D-A40W-08	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	0	0	0	16	420	0	156		0	0	0	0	156	2								1	0.999932	16	417	0	156	2								-3.200955	1	1	0	0		1	1	2	3	2.017628	0	0.250000	2.020000	0.256506	0.300000	0.170000	1.000000	0.290000	0.349547	0.300000	0	2.300000e-01	4.000000e-01
RIMBP2	23504	broad.mit.edu	37	12	130923012	130923012	+	Silent	SNP	G	G	A	rs144010117	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:130923012G>A	ENST00000261655.4	-	9	1666	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P	RIMBP2_ENST00000536002.1_Silent_p.P409P|RIMBP2_ENST00000535703.1_Silent_p.P409P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2			96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)			GGATGGTGGCGGGGGTCACCC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000261655.4	0	1	hg19	CCDS31925.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	0	0	0	11	78	0	42		0	0	0	0	42	2								1	0.998411	11	75	0	41	2								-18.191660	1	1	121388	4	35	1	1	2	3	1.995188	0	0.250000	2.020000	0.250936	0.990000	0.540000	1.000000	1.000000	0.902811	0.990000	1	7.400000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AABT-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	24	173	0	128	1	6.320314e-01	2	15	0	128	2								1	1.000000	24	170	0	127	2								-11.944460	1	1	0	0		1	1	2	3	1.995188	0	0.250000	2.020000	0.250936	0.970000	0.650000	1.000000	1.000000	0.921768	0.970000	1	8.000000e-01	1
IKZF4	64375	broad.mit.edu	37	12	56420631	56420631	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:56420631G>A	ENST00000262032.5	+	8	720	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	IKZF4_ENST00000547791.1_Missense_Mutation_p.R73Q|IKZF4_ENST00000431367.2_Missense_Mutation_p.R16Q|IKZF4_ENST00000547167.1_Missense_Mutation_p.R118Q|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000548601.1_3'UTR			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)			8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		CCAGATGAGCGGCTCCTGGAA	0.572000																								0							SO:0001583	missense			ENST00000262032.5	0	1	hg19	CCDS44917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.513158	0.96402	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.08282	3.13;3.14;3.13;3.11	5.08	5.08	0.68730	.	0.000000	0.44688	D	0.000438	T	0.18635	0.0447	L	0.42245	1.32	0.58432	D	0.999998	P;D;P;D	0.76494	0.893;0.998;0.787;0.999	B;P;B;P	0.59761	0.148;0.863;0.103;0.733	T	0.00675	-1.1615	10	0.32370	T	0.25	-10.7923	17.3946	0.87441	0.0:0.0:1.0:0.0	.	16;73;77;118	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	Q	118;16;118;73	ENSP00000262032:R118Q;ENSP00000412101:R16Q;ENSP00000448419:R118Q;ENSP00000450020:R73Q	ENSP00000262032:R118Q	R	+	2	0	IKZF4	54706898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.478000	0.73596	2.633000	0.89246	0.561000	0.74099	CGG		TCGA-2J-AABT-01A-11D-A40W-08	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	0	0	0	7	180	0	85	0	3.535799e-02	0	7	0	85	2								1	0.979698	7	176	0	85	2								-9.357368	1	1	0	0		1	1	2	3	1.995188	0	0.250000	2.020000	0.250936	0.310000	0.140000	0.590000	0.300000	0.333663	0.310000	0	2.100000e-01	4.500000e-01
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:64502748G>A	ENST00000355086.3	+	16	2374	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R594H|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R554H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1			65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)		CTTCACATCCGCAAACTCCTC	0.463000																								0							SO:0001583	missense			ENST00000355086.3	0	1	hg19	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089520	0.94149	0.0	2.33E-4	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	4.29	0.51040	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.216473	0.22557	N	0.058512	T	0.39436	0.1078	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.397	D;B	0.74023	0.982;0.119	T	0.10613	-1.0622	9	.	.	.	.	14.9023	0.70689	0.0708:0.0:0.9292:0.0	.	617;554	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	H	617;594;554	ENSP00000347198:R617H;ENSP00000350480:R594H;ENSP00000437948:R554H	.	R	+	2	0	SRGAP1	62789015	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.722000	0.61958	1.496000	0.48567	0.650000	0.86243	CGC		TCGA-2J-AABT-01A-11D-A40W-08	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1	0	0	0	6	507	1	223	0	2.107323e-04	0	2	1	223	2								0	0.213574	6	498	1	222	10								-1.692014	0	1	121404	11	46	1	1	2	3	1.995188	0	0.250000	2.020000	0.250936	0.090000	0.030000	0.200000	0.100000	0.108246	0.090000	0	6.000000e-02	1.500000e-01
LTA4H	4048	broad.mit.edu	37	12	96412615	96412615	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr12:96412615A>C	ENST00000228740.2	-	8	919	c.778T>G	c.(778-780)Ttg>Gtg	p.L260V	LTA4H_ENST00000552789.1_Missense_Mutation_p.L236V|LTA4H_ENST00000413268.2_Missense_Mutation_p.L236V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase			12				Captopril(DB01197)	GGCAGGACCAATAGGTCATAC	0.403000																								0							SO:0001583	missense			ENST00000228740.2	0	1	hg19	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966327	0.53507	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.01933	4.55;4.55;4.55	5.29	-2.74	0.05932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04182	0.0116	L	0.49571	1.57	0.41510	D	0.988339	P;P;P	0.51933	0.788;0.949;0.935	P;P;P	0.50617	0.514;0.514;0.646	T	0.16512	-1.0400	10	0.33940	T	0.23	-11.7535	14.3716	0.66843	0.4175:0.0:0.5825:0.0	.	236;236;260	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	V	260;236;236	ENSP00000228740:L260V;ENSP00000449958:L236V;ENSP00000395051:L236V	ENSP00000228740:L260V	L	-	1	2	LTA4H	94936746	0.650000	0.27331	0.030000	0.17652	0.921000	0.55340	1.115000	0.31209	-0.393000	0.07739	-0.353000	0.07706	TTG		TCGA-2J-AABT-01A-11D-A40W-08	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	0	0	0	32	217	0	114	1	9.999988e-01	19	130	0	114	2								1	1.000000	32	215	0	114	2								-20.000000	1	1	0	0		1	1	2	3	1.995188	0	0.250000	2.020000	0.250936	0.990000	0.720000	1.000000	1.000000	0.951988	0.990000	1	8.600000e-01	1
TPTE2	93492	broad.mit.edu	37	13	19999089	19999089	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr13:19999089G>C	ENST00000400230.2	-	19	1508	c.1464C>G	c.(1462-1464)aaC>aaG	p.N488K	TPTE2_ENST00000382977.4_Missense_Mutation_p.N488K|TPTE2_ENST00000382975.4_Missense_Mutation_p.N448K|TPTE2_ENST00000255310.6_Missense_Mutation_p.N411K|TPTE2_ENST00000382978.1_Missense_Mutation_p.N448K|TPTE2_ENST00000457266.2_Missense_Mutation_p.N377K|TPTE2_ENST00000400103.2_Missense_Mutation_p.N377K|TPTE2_ENST00000390680.2_Missense_Mutation_p.N411K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2			65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			ATTCATACCTGTTATTTTGAA	0.284000																								0							SO:0001583	missense			ENST00000400230.2	0	1	hg19	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	g	4.566	0.105142	0.08731	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	2.17	1.31	0.21738	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174919	0.48286	U	0.000185	T	0.80065	0.4555	L	0.52266	1.64	0.38754	D	0.954181	B;B;B	0.32324	0.117;0.216;0.364	B;B;B	0.39465	0.145;0.155;0.3	T	0.72001	-0.4422	9	.	.	.	-8.723	6.8494	0.24006	0.1572:0.0:0.8428:0.0	.	377;411;488	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	448;377;488;411;411;488;448;377	ENSP00000372438:N448K;ENSP00000382974:N377K;ENSP00000383089:N488K;ENSP00000255310:N411K;ENSP00000375098:N411K;ENSP00000372437:N488K;ENSP00000372435:N448K;ENSP00000442218:N377K	.	N	-	3	2	TPTE2	18897089	1.000000	0.71417	0.646000	0.29493	0.352000	0.29268	4.366000	0.59492	0.469000	0.27268	0.194000	0.17425	AAC		TCGA-2J-AABT-01A-11D-A40W-08	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	9	84	0	38		0	0	0	0	38	2								1	0.994452	9	82	0	38	2								-6.589031	1	1	0	0		1	2	2	4	2.249953	1	0.250000	2.020000	0.339207	0.990000	0.480000	1.000000	1.000000	0.887913	0.990000	1	7.000000e-01	1
AKAP6	9472	broad.mit.edu	37	14	33292241	33292241	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr14:33292241C>T	ENST00000280979.4	+	13	5392	c.5222C>T	c.(5221-5223)tCt>tTt	p.S1741F	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6			122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)		GTTAATGTCTCTTGCACCTCT	0.473000													Melanoma(49;821 1200 7288 13647 42351)											0							SO:0001583	missense			ENST00000280979.4	0	1	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528551	0.64860	.	.	ENSG00000151320	ENST00000280979	T	0.14516	2.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.40570	0.1122	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.11060	-1.0603	10	0.87932	D	0	-9.7292	19.6071	0.95585	0.0:1.0:0.0:0.0	.	1741	Q13023	AKAP6_HUMAN	F	1741	ENSP00000280979:S1741F	ENSP00000280979:S1741F	S	+	2	0	AKAP6	32361992	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.062000	0.76706	2.728000	0.93425	0.650000	0.86243	TCT		TCGA-2J-AABT-01A-11D-A40W-08	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	0	0	0	52	364	0	211	0	8.653554e-01	0	27	0	211	2								1	1.000000	52	361	0	210	2								-3.221898	1	1	0	0		1	1	2	3	2.006271	0	0.250000	2.020000	0.253731	0.990000	0.760000	1.000000	1.000000	0.955614	0.990000	1	8.800000e-01	1
PRC1	9055	broad.mit.edu	37	15	91517846	91517846	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr15:91517846C>T	ENST00000361188.5	-	10	2530	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R440Q|PRC1_ENST00000361919.3_Missense_Mutation_p.R440Q|PRC1_ENST00000442656.2_Missense_Mutation_p.R399Q					protein regulator of cytokinesis 1			25	Lung NSC(78;0.0987)|all_lung(78;0.175)				TTTCTCCAATCGATGCATCTC	0.443000																								0							SO:0001583	missense			ENST00000361188.5	0	1	hg19	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792465	0.50102	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000555455;ENST00000442656	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	5.64	2.79	0.32731	.	0.323197	0.33477	N	0.004866	T	0.23766	0.0575	L	0.33485	1.01	0.32416	N	0.550029	B;B;B;B	0.20887	0.009;0.009;0.006;0.049	B;B;B;B	0.18561	0.007;0.007;0.022;0.013	T	0.17623	-1.0363	10	0.30854	T	0.27	.	7.2242	0.26005	0.0:0.5634:0.0:0.4366	.	399;440;410;440	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	Q	440;440;440;43;399	ENSP00000377793:R440Q;ENSP00000354618:R440Q;ENSP00000354679:R440Q;ENSP00000409549:R399Q	ENSP00000354679:R440Q	R	-	2	0	PRC1	89318850	0.010000	0.17322	0.163000	0.22734	0.980000	0.70556	0.194000	0.17135	0.495000	0.27882	0.650000	0.86243	CGA		TCGA-2J-AABT-01A-11D-A40W-08	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	0	0	0	15	737	0	403	0	1.884966e-02	0	10	0	403	2								1	0.999860	15	729	0	396	2								-2.566806	1	1	121412	6	44	1	0	1	1	1.766972	1	0.250000	2.020000	0.164345	0.140000	0.080000	0.230000	0.140000	0.151333	0.140000	0	1.000000e-01	1.900000e-01
ADCY9	115	broad.mit.edu	37	16	4016226	4016226	+	Silent	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:4016226G>A	ENST00000294016.3	-	11	4150	c.3612C>T	c.(3610-3612)tgC>tgT	p.C1204C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9			47					CCTGGATGCGGCACTCCACGC	0.602000																								0							SO:0001819	synonymous_variant			ENST00000294016.3	0	1	hg19	CCDS32382.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1	0	0	0	7	453	0	183	0	1.216905e-01	0	34	0	183	2								1	0.980316	7	450	0	182	2								-2.114804	0	1	0	0		1	1	2	3	2.040737	0	0.250000	2.020000	0.260173	0.130000	0.050000	1.000000	0.130000	0.216036	0.130000	0	8.000000e-02	2.100000e-01
VAT1L	57687	broad.mit.edu	37	16	77910292	77910292	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr16:77910292G>A	ENST00000302536.2	+	5	901	c.748G>A	c.(748-750)Gtt>Att	p.V250I	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like			24					TGTGGACATCGTTTTGGATTG	0.473000																								0							SO:0001583	missense			ENST00000302536.2	0	1	hg19	CCDS32492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.2	4.508695	0.85282	.	.	ENSG00000171724	ENST00000302536	T	0.33865	1.39	5.4	5.4	0.78164	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.48986	1.54	0.80722	D	1	P	0.52170	0.951	B	0.40134	0.32	T	0.25257	-1.0137	10	0.02654	T	1	-20.162	19.1297	0.93400	0.0:0.0:1.0:0.0	.	250	Q9HCJ6	VAT1L_HUMAN	I	250	ENSP00000303129:V250I	ENSP00000303129:V250I	V	+	1	0	VAT1L	76467793	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	9.407000	0.97325	2.675000	0.91044	0.655000	0.94253	GTT		TCGA-2J-AABT-01A-11D-A40W-08	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	0	0	0	9	499	0	190	0	1.362456e-02	0	9	0	190	2								1	0.993812	9	490	0	188	2								-2.867996	1	1	121412	2	38	1	1	2	3	2.025672	0	0.250000	2.020000	0.257426	0.150000	0.060000	1.000000	0.140000	0.211735	0.150000	0	1.000000e-01	2.200000e-01
SLC43A2	124935	broad.mit.edu	37	17	1489346	1489346	+	Splice_Site	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:1489346C>T	ENST00000301335.5	-	10	1167		c.e10-1		SLC43A2_ENST00000571650.1_Splice_Site|SLC43A2_ENST00000382147.4_Missense_Mutation_p.V364I|SLC43A2_ENST00000412517.3_Splice_Site	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2			12					TAGAGGCCAACTGTGGAGGAA	0.642000																								0							SO:0001630	splice_region_variant			ENST00000301335.5	0	1	hg19	CCDS11006.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160652|4.160652	0.78226|0.78226	.|.	.|.	ENSG00000167703|ENSG00000167703	ENST00000301335;ENST00000412517|ENST00000382147	.|T	.|0.80480	.|-1.38	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87748	.|0.6255	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.86025	.|0.1509	.|6	.|.	.|.	.|.	.|.	19.2052|19.2052	0.93728|0.93728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|364	.|ENSP00000371582:V364I	.|.	.|V	-|-	.|1	.|0	SLC43A2|SLC43A2	1436096|1436096	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.628000|0.628000	0.37860|0.37860	7.776000|7.776000	0.85560|0.85560	2.850000|2.850000	0.98022|0.98022	0.655000|0.655000	0.94253|0.94253	.|GTT		TCGA-2J-AABT-01A-11D-A40W-08	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	0	0	0	3	14	0	14	1	5.263158e-02	2	0	0	14	2								1	0.793255	3	13	0	14	2								-9.718824	1	1	0	0		1	0	1	1	1.771318	1	0.250000	2.020000	0.142857	0.730000	0.270000	0.990000	0.990000	0.712334	0.730000	0	4.900000e-01	9.200000e-01
TMEM132E	124842	broad.mit.edu	37	17	32953994	32953994	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:32953994G>A	ENST00000321639.5	+	3	974	c.646G>A	c.(646-648)Ggg>Agg	p.G216R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E			57					CCTCAAGCCCGGGGAAGTGCT	0.652000																								0							SO:0001583	missense			ENST00000321639.5	0	1	hg19	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961826	0.74016	.	.	ENSG00000181291	ENST00000321639	T	0.24908	1.83	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	M	0.64404	1.975	0.58432	D	0.999995	D	0.54772	0.968	B	0.42798	0.398	T	0.10753	-1.0616	10	0.42905	T	0.14	-38.6309	18.0519	0.89351	0.0:0.0:1.0:0.0	.	216	Q6IEE7	T132E_HUMAN	R	216	ENSP00000316532:G216R	ENSP00000316532:G216R	G	+	1	0	TMEM132E	29978107	1.000000	0.71417	0.925000	0.36789	0.992000	0.81027	7.804000	0.85993	2.484000	0.83849	0.442000	0.29010	GGG		TCGA-2J-AABT-01A-11D-A40W-08	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	0	0	0	42	276	0	102		0	0	0	0	102	2								1	1.000000	41	273	0	100	2								-2.541042	1	1	0	0		1	1	2	3	2.037973	0	0.250000	2.020000	0.260173	0.990000	0.790000	1.000000	1.000000	0.974488	0.990000	1	9.300000e-01	1
RNF213	57674	broad.mit.edu	37	17	78321495	78321495	+	Silent	SNP	C	C	T	rs142096377		TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr17:78321495C>T	ENST00000582970.1	+	29	9503	c.9360C>T	c.(9358-9360)taC>taT	p.Y3120Y	RNF213_ENST00000508628.2_Silent_p.Y3169Y|RNF213_ENST00000336301.6_Silent_p.Y1193Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213			130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		ACCAGTACTACGTCCACCTCG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000582970.1	0	1	hg19	CCDS58606.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	0	0	38	291	0	112	1	9.193734e-01	8	27	0	112	2								1	1.000000	38	283	0	109	2								-20.000000	1	1	121412	3	37	1	1	2	3	2.027352	0	0.250000	2.020000	0.257426	0.940000	0.680000	1.000000	1.000000	0.915862	0.940000	1	8.000000e-01	1
NLRP9	338321	broad.mit.edu	37	19	56244155	56244155	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:56244155T>C	ENST00000332836.2	-	2	1069	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9			74		Colorectal(82;0.000133)|Ovarian(87;0.133)			AGCCTCTGTTTCACACAAGTA	0.418000																								0							SO:0001583	missense			ENST00000332836.2	0	1	hg19	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363034	0.41902	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83837	-1.77	2.56	2.56	0.30785	.	.	.	.	.	D	0.88055	0.6334	M	0.67569	2.06	0.09310	N	1	D	0.71674	0.998	D	0.68765	0.96	T	0.76688	-0.2867	9	0.72032	D	0.01	.	9.0339	0.36275	0.0:0.0:0.0:1.0	.	348	Q7RTR0	NALP9_HUMAN	E	348	ENSP00000331857:K348E	ENSP00000331857:K348E	K	-	1	0	NLRP9	60935967	0.298000	0.24417	0.006000	0.13384	0.010000	0.07245	0.754000	0.26390	1.464000	0.47987	0.524000	0.50904	AAA		TCGA-2J-AABT-01A-11D-A40W-08	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	0	0	0	54	452	0	253		0	0	0	0	253	2								1	1.000000	53	447	0	248	2								-20.000000	1	1	0	0		1	1	2	3	2.000098	0	0.250000	2.020000	0.251870	0.850000	0.650000	1.000000	1.000000	0.858089	0.850000	1	7.400000e-01	9.800000e-01
SNAPC2	6618	broad.mit.edu	37	19	7986996	7986996	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:7986996A>G	ENST00000221573.6	+	4	500	c.449A>G	c.(448-450)aAg>aGg	p.K150R	SNAPC2_ENST00000595035.1_3'UTR|CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa			6					GCCCGTGGAAAGCCTTTGCTC	0.657000																								0							SO:0001583	missense			ENST00000221573.6	0	1	hg19	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	a	10.51	1.370689	0.24771	.	.	ENSG00000104976	ENST00000221573	T	0.56275	0.47	4.33	-0.489	0.12052	.	0.299670	0.24150	N	0.041085	T	0.35885	0.0947	L	0.37561	1.115	0.09310	N	1	B	0.25235	0.121	B	0.26416	0.069	T	0.17992	-1.0351	10	0.29301	T	0.29	-17.8988	7.2806	0.26310	0.5075:0.0:0.4925:0.0	.	150	Q13487	SNPC2_HUMAN	R	150	ENSP00000221573:K150R	ENSP00000221573:K150R	K	+	2	0	SNAPC2	7892996	0.001000	0.12720	0.009000	0.14445	0.070000	0.16714	0.711000	0.25764	-0.049000	0.13379	0.449000	0.29647	AAG		TCGA-2J-AABT-01A-11D-A40W-08	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	0	0	0	59	526	0	239	1	9.976347e-01	6	76	0	239	2								1	1.000000	59	519	0	236	2								-20.000000	1	1	0	0		1	0	1	1	1.986460	0	0.250000	2.020000	0.246231	0.790000	0.610000	1.000000	0.800000	0.807905	0.790000	0	7.000000e-01	9.000000e-01
MUC16	94025	broad.mit.edu	37	19	9047851	9047851	+	Silent	SNP	C	C	T	rs149660691	by1000genomes	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr19:9047851C>T	ENST00000397910.4	-	5	33983	c.33780G>A	c.(33778-33780)ccG>ccA	p.P11260P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TATTTGTAAACGGCTCACCAG	0.478000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	6	126	0	46		0	0	0	0	46	2								1	0.963575	5	124	0	46	2								-9.150232	1	1	120870	13	39	1	0	1	1	1.986460	0	0.250000	2.020000	0.246231	0.380000	0.160000	0.710000	0.350000	0.406172	0.380000	0	2.500000e-01	5.500000e-01
GPA33	10223	broad.mit.edu	37	1	167023589	167023589	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:167023589C>T	ENST00000367868.3	-	7	1285	c.942G>A	c.(940-942)ccG>ccA	p.P314P	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)			15					CGAGGTGGTCCGGGGATTCAC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000367868.3	0	1	hg19	CCDS1258.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	0	0	0	5	300	0	115	0	3.297064e-02	0	14	0	115	2								1	0.935858	5	296	0	112	2								-2.502320	1	1	121412	3	36	1	1	2	3	2.020974	0	0.250000	2.020000	0.256506	0.140000	0.050000	1.000000	0.130000	0.203268	0.140000	0	9.000000e-02	2.400000e-01
ADCY10	55811	broad.mit.edu	37	1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:167870912G>A	ENST00000367851.4	-	5	608	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ADCY10_ENST00000367848.1_Nonsense_Mutation_p.R50*|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					ATCTTGACTCGGATGTCTAGG	0.463000																								0							SO:0001587	stop_gained			ENST00000367851.4	0	1	hg19	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613178	0.87359	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	.	.	.	5.76	3.84	0.44239	.	0.270367	0.26983	N	0.021504	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6457	9.3555	0.38164	0.0:0.1576:0.6786:0.1638	.	.	.	.	X	142;50	.	ENSP00000356822:R50X	R	-	1	2	ADCY10	166137536	0.994000	0.37717	0.106000	0.21319	0.087000	0.18053	2.743000	0.47442	0.734000	0.32515	-0.323000	0.08544	CGA		TCGA-2J-AABT-01A-11D-A40W-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	0	0	59	451	0	226		0	0	0	0	226	2								1	1.000000	59	445	0	226	2								-2.522914	1	1	121412	1	36	1	1	2	3	2.020974	0	0.250000	2.020000	0.256506	0.930000	0.720000	1.000000	1.000000	0.922454	0.930000	1	8.200000e-01	1
KCNK2	3776	broad.mit.edu	37	1	215408265	215408265	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:215408265A>C	ENST00000444842.2	+	7	1208	c.1058A>C	c.(1057-1059)gAc>gCc	p.D353A	KCNK2_ENST00000391894.2_Missense_Mutation_p.D338A|KCNK2_ENST00000391895.2_Missense_Mutation_p.D349A	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2			30				Dofetilide(DB00204)|Dronedarone(DB04855)	GAGATTTATGACAAGTTCCAG	0.552000																								0							SO:0001583	missense			ENST00000444842.2	0	1	hg19	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609139	0.87258	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.73;1.73	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.996;0.987;1.0	D;P;D	0.91635	0.966;0.827;0.999	T	0.20207	-1.0282	10	0.49607	T	0.09	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	338;353;349	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	A	349;338;353	ENSP00000375765:D349A;ENSP00000375764:D338A;ENSP00000394033:D353A	ENSP00000375764:D338A	D	+	2	0	KCNK2	213474888	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.270000	0.75569	0.459000	0.35465	GAC		TCGA-2J-AABT-01A-11D-A40W-08	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	0	0	0	36	217	0	116	0	2.153799e-02	0	2	0	116	2								1	1.000000	36	215	0	111	2								-3.323263	1	1	0	0		1	1	2	3	2.020974	0	0.250000	2.020000	0.256506	0.990000	0.830000	1.000000	1.000000	0.985057	0.990000	1	9.800000e-01	1
WDR78	79819	broad.mit.edu	37	1	67279820	67279820	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr1:67279820G>A	ENST00000371026.3	-	17	2595	c.2540C>T	c.(2539-2541)tCa>tTa	p.S847L	WDR78_ENST00000431318.1_Missense_Mutation_p.S560L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78			32					GAATTATGCTGATTGGTTTGA	0.279000																								0							SO:0001583	missense			ENST00000371026.3	0	1	hg19	CCDS635.1	.	.	.	.	.	.	.	.	.	.	G	4.759	0.141129	0.09083	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67171	0.32;-0.25;-0.25	3.71	0.529	0.17095	.	2.548910	0.01224	N	0.008168	T	0.26159	0.0638	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.004;0.008	B;B	0.11329	0.006;0.003	T	0.10989	-1.0606	10	0.42905	T	0.14	0.159	4.4702	0.11708	0.1105:0.0:0.5018:0.3877	.	560;847	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	L	847;560;580	ENSP00000360065:S847L;ENSP00000393182:S560L;ENSP00000433682:S580L	ENSP00000360065:S847L	S	-	2	0	WDR78	67052408	0.165000	0.22948	0.158000	0.22627	0.038000	0.13279	0.455000	0.21843	0.126000	0.18424	0.643000	0.83706	TCA		TCGA-2J-AABT-01A-11D-A40W-08	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	0	0	0	20	187	0	102		0	0	0	0	102	2								1	0.999996	20	186	0	102	2								-20.000000	1	1	0	0		1	1	2	3	2.036874	0	0.250000	2.020000	0.259259	0.800000	0.500000	1.000000	1.000000	0.807937	0.800000	0	6.400000e-01	1
FOXS1	2307	broad.mit.edu	37	20	30432939	30432939	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr20:30432939G>A	ENST00000375978.3	-	1	481	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1			9					CTGGCTGGTCGCCCTGAGGGG	0.706000																								0							SO:0001583	missense			ENST00000375978.3	0	1	hg19	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	8.545	0.874061	0.17395	0.0	1.16E-4	ENSG00000179772	ENST00000375978	D	0.93604	-3.25	4.47	-4.25	0.03766	.	0.753342	0.11194	N	0.589598	T	0.80874	0.4707	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.67221	-0.5725	10	0.39692	T	0.17	.	0.731	0.00957	0.2316:0.2146:0.3362:0.2176	.	136	O43638	FOXS1_HUMAN	V	136	ENSP00000365145:A136V	ENSP00000365145:A136V	A	-	2	0	FOXS1	29896600	0.000000	0.05858	0.011000	0.14972	0.101000	0.19017	-0.227000	0.09126	-0.497000	0.06641	0.455000	0.32223	GCG		TCGA-2J-AABT-01A-11D-A40W-08	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	0	0	0	11	76	0	24	0	1.923269e-01	0	6	0	24	2								1	0.998414	11	73	0	23	2								-18.613680	1	1	121242	3	32	1	1	2	3	2.054710	0	0.250000	2.020000	0.262899	0.990000	0.570000	1.000000	1.000000	0.927177	0.990000	1	7.900000e-01	1
USP25	29761	broad.mit.edu	37	21	17205843	17205843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr21:17205843G>T	ENST00000285679.6	+	17	2539	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*	USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Nonsense_Mutation_p.E724*|USP25_ENST00000400183.2_Nonsense_Mutation_p.E724*	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25			52					GAAATTGAGAGAGTCAGAGAC	0.333000																								0							SO:0001587	stop_gained			ENST00000285679.6	0	1	hg19	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	G	39	7.346853	0.98228	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183	.	.	.	5.24	5.24	0.73138	.	0.358668	0.31134	N	0.008185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.7667	0.69646	0.0:0.1443:0.8557:0.0	.	.	.	.	X	724	.	ENSP00000285679:E724X	E	+	1	0	USP25	16127714	1.000000	0.71417	0.570000	0.28473	0.835000	0.47333	2.944000	0.49034	2.615000	0.88500	0.591000	0.81541	GAG		TCGA-2J-AABT-01A-11D-A40W-08	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1	0	0	0	28	167	0	108	0	9.895714e-01	1	45	0	108	2								1	1.000000	29	163	0	106	2								-3.329622	1	1	0	0		1	0	0	0	1.918948	0	0.250000	2.020000	0.218750	0.990000	0.750000	1.000000	1.000000	0.968892	0.990000	1	9.100000e-01	1
TRIOBP	11078	broad.mit.edu	37	22	38130478	38130478	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38130478C>T	ENST00000406386.3	+	9	4390	c.4135C>T	c.(4135-4137)Cct>Tct	p.P1379S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein			12	Melanoma(58;0.0574)				TCCTTGGAGTCCTGAGAAGAG	0.652000																								0							SO:0001583	missense			ENST00000406386.3	0	1	hg19	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366733	0.24771	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29397	1.57	5.36	2.07	0.26955	.	.	.	.	.	T	0.19327	0.0464	N	0.24115	0.695	0.21325	N	0.999724	B	0.19706	0.038	B	0.14023	0.01	T	0.21109	-1.0255	9	0.87932	D	0	.	6.1763	0.20444	0.1476:0.6905:0.0:0.1619	.	1379	Q9H2D6	TARA_HUMAN	S	1379;1340	ENSP00000384312:P1379S	ENSP00000384312:P1379S	P	+	1	0	TRIOBP	36460424	0.104000	0.21937	0.750000	0.31169	0.005000	0.04900	0.904000	0.28491	0.625000	0.30304	0.563000	0.77884	CCT		TCGA-2J-AABT-01A-11D-A40W-08	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0	0	0	9	81	0	42		0	0	0	0	42	2								1	0.994463	8	80	0	42	2								-15.182280	1	0	0	0		1						0.250000	2.020000									0	0
TRIOBP	11078	broad.mit.edu	37	22	38130531	38130531	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr22:38130531C>T	ENST00000406386.3	+	9	4443	c.4188C>T	c.(4186-4188)ccC>ccT	p.P1396P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein			12	Melanoma(58;0.0574)				CGCTGCCCCCCAGGACATCAG	0.657000																								0							SO:0001819	synonymous_variant			ENST00000406386.3	0	1	hg19	CCDS43015.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2	0	0	0	7	45	0	20		0	0	0	0	20	2								1	0.981935	6	45	0	20	2								-13.977350	1	0	0	0		1						0.250000	2.020000									0	0
POU3F3	5455	broad.mit.edu	37	2	105473188	105473188	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:105473188G>A	ENST00000361360.2	+	1	1220	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3			12					GGCCGCAAGCGCAAGAAGCGG	0.647000																								0							SO:0001583	missense			ENST00000361360.2	0	1	hg19	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353431	0.82243	.	.	ENSG00000198914	ENST00000361360	D	0.97303	-4.33	4.14	4.14	0.48551	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.64402	U	0.000017	D	0.99127	0.9699	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98808	1.0742	10	0.87932	D	0	.	15.1857	0.72999	0.0:0.0:1.0:0.0	.	407	P20264	PO3F3_HUMAN	H	407	ENSP00000355001:R407H	ENSP00000355001:R407H	R	+	2	0	POU3F3	104839620	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.428000	0.80296	1.858000	0.53909	0.462000	0.41574	CGC		TCGA-2J-AABT-01A-11D-A40W-08	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2	0	0	0	4	143	1	59		0	0	0	1	59	2								0	0.076583	4	140	1	58	10								-6.452658	1	1	0	0		1	1	2	3	2.006717	0	0.250000	2.020000	0.253731	0.240000	0.080000	1.000000	0.220000	0.285608	0.240000	0	1.400000e-01	3.900000e-01
TTN	7273	broad.mit.edu	37	2	179640850	179640850	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:179640850G>A	ENST00000591111.1	-	28	5965	c.5741C>T	c.(5740-5742)gCg>gTg	p.A1914V	TTN_ENST00000360870.5_Missense_Mutation_p.A1914V|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A1914V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A1868V|TTN_ENST00000589042.1_Missense_Mutation_p.A1914V|TTN_ENST00000342175.6_Missense_Mutation_p.A1868V|TTN_ENST00000359218.5_Missense_Mutation_p.A1868V|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	p.A1868V(4)|p.A1914V(4)		1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AGGATTTTCCGCGGTGACCTT	0.458000																								8	Substitution - Missense(8)						SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	13.82	2.350863	0.41599	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.1	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84884	0.5571	M	0.77616	2.38	0.43729	D	0.996215	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.998	D	0.86984	0.2106	9	0.87932	D	0	.	18.5142	0.90930	0.0:0.0:1.0:0.0	.	1868;1868;1868;1914;1914	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	1914;1868;1868;1868;1868;1914	ENSP00000343764:A1914V;ENSP00000434586:A1868V;ENSP00000340554:A1868V;ENSP00000352154:A1868V;ENSP00000354117:A1914V	ENSP00000340554:A1868V	A	-	2	0	TTN	179349095	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	9.817000	0.99352	2.385000	0.81259	0.609000	0.83330	GCG		TCGA-2J-AABT-01A-11D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	119	682	1	358		0	0	0	1	358	2								1	1.000000	119	674	1	355	10								-20.000000	1	1	121410	3	40	1	1	2	3	2.005369	0	0.250000	2.020000	0.253731	0.990000	0.990000	1.000000	1.000000	0.999308	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197189711	197189711	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:197189711T>C	ENST00000260983.3	-	6	916	c.734A>G	c.(733-735)cAc>cGc	p.H245R	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					TACCTCTCGGTGCCAAATTGG	0.512000																								0							SO:0001583	missense			ENST00000260983.3	0	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484512	0.84854	.	.	ENSG00000138411	ENST00000260983	T	0.40756	1.02	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.104523	0.64402	D	0.000004	T	0.36166	0.0957	L	0.41236	1.265	0.58432	D	0.999991	P	0.45176	0.852	B	0.39217	0.294	T	0.31752	-0.9932	10	0.59425	D	0.04	.	15.2329	0.73404	0.0:0.0:0.0:1.0	.	245	Q9P2P5	HECW2_HUMAN	R	245	ENSP00000260983:H245R	ENSP00000260983:H245R	H	-	2	0	HECW2	196897956	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.733000	0.68571	2.180000	0.69256	0.533000	0.62120	CAC		TCGA-2J-AABT-01A-11D-A40W-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	0	0	0	67	527	0	289	0	1.309875e-02	0	2	0	289	2								1	1.000000	66	519	0	288	2								-19.999430	1	1	0	0		1	1	2	3	2.005369	0	0.250000	2.020000	0.253731	0.900000	0.710000	1.000000	1.000000	0.903124	0.900000	1	8.000000e-01	1
ADAM23	8745	broad.mit.edu	37	2	207345998	207345998	+	Missense_Mutation	SNP	G	G	A	rs146209053	byFrequency	TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr2:207345998G>A	ENST00000264377.3	+	3	803	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	ADAM23_ENST00000374416.1_Missense_Mutation_p.G159S|ADAM23_ENST00000374415.3_Missense_Mutation_p.G159S	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23			51					TGAAGCCTTCGGCTCCAAATT	0.383000													Melanoma(194;1127 2130 19620 24042 27855)											0							SO:0001583	missense			ENST00000264377.3	0	1	hg19	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887047	0.72410	0.003858	0.0	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.16324	2.35;2.35;2.35	5.04	5.04	0.67666	Peptidase M12B, propeptide (1);	0.000000	0.56097	D	0.000038	T	0.34135	0.0887	M	0.78916	2.43	0.58432	D	0.999999	P	0.50156	0.932	P	0.49953	0.627	T	0.14337	-1.0476	10	0.51188	T	0.08	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	159	O75077	ADA23_HUMAN	S	159;159;53;159	ENSP00000264377:G159S;ENSP00000363537:G159S;ENSP00000363536:G159S	ENSP00000264377:G159S	G	+	1	0	ADAM23	207054243	1.000000	0.71417	0.980000	0.43619	0.898000	0.52572	4.933000	0.63484	2.492000	0.84095	0.650000	0.86243	GGC		TCGA-2J-AABT-01A-11D-A40W-08	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	0	0	0	38	200	0	110	0	4.412380e-01	0	9	0	110	2								1	1.000000	38	200	0	110	2								-2.819802	1	1	121384	40	46	1	1	2	3	2.005369	0	0.250000	2.020000	0.253731	0.990000	0.930000	1.000000	1.000000	0.996485	0.990000	1	9.900000e-01	1
RPP14	11102	broad.mit.edu	37	3	58302276	58302276	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr3:58302276A>C	ENST00000445193.3	+	4	608	c.197A>C	c.(196-198)tAt>tCt	p.Y66S	RPP14_ENST00000295959.5_Missense_Mutation_p.Y66S|RPP14_ENST00000528153.1_5'Flank|RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000466547.1_Missense_Mutation_p.Y66S	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit			3					ATCCTAACCTATGAAGAGAAG	0.418000																								0							SO:0001583	missense			ENST00000445193.3	0	1	hg19	CCDS2888.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167997	0.78339	.	.	ENSG00000163684	ENST00000445193;ENST00000295959;ENST00000466547	.	.	.	5.81	4.63	0.57726	.	0.222920	0.48286	D	0.000193	T	0.71970	0.3403	M	0.70275	2.135	0.42354	D	0.992384	D	0.69078	0.997	D	0.68621	0.959	T	0.74460	-0.3658	9	0.87932	D	0	-16.2431	10.9368	0.47249	0.8603:0.0:0.0:0.1397	.	66	O95059	RPP14_HUMAN	S	66	.	ENSP00000295959:Y66S	Y	+	2	0	RPP14	58277316	0.999000	0.42202	0.844000	0.33320	0.913000	0.54294	3.766000	0.55280	0.980000	0.38523	0.533000	0.62120	TAT		TCGA-2J-AABT-01A-11D-A40W-08	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353527.2	0	0	0	65	428	0	188	1	8.853714e-01	4	23	0	188	2								1	1.000000	64	423	0	186	2								-20.000000	1	1	0	0		1	1	2	3	2.013508	0	0.250000	2.020000	0.255583	0.990000	0.830000	1.000000	1.000000	0.979692	0.990000	1	9.400000e-01	1
LYSMD3	116068	broad.mit.edu	37	5	89814997	89814997	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr5:89814997G>A	ENST00000315948.6	-	3	704	c.560C>T	c.(559-561)tCg>tTg	p.S187L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3			7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)			TGTTAAGGCCGATACTACCTC	0.413000																								0							SO:0001583	missense			ENST00000315948.6	0	1	hg19	CCDS43338.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273371	0.80580	.	.	ENSG00000176018;ENSG00000259141	ENST00000315948;ENST00000554351	T	0.16597	2.33	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.04737	-1.0930	10	0.27082	T	0.32	-9.2471	19.8807	0.96899	0.0:0.0:1.0:0.0	.	187	Q7Z3D4	LYSM3_HUMAN	L	187	ENSP00000314518:S187L	ENSP00000314518:S187L	S	-	2	0	AC027323.1;LYSMD3	89850753	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	9.444000	0.97578	2.692000	0.91855	0.591000	0.81541	TCG		TCGA-2J-AABT-01A-11D-A40W-08	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369987.2	0	0	0	59	409	0	263	1	8.033354e-01	4	19	0	263	2								1	1.000000	59	408	0	260	2								-3.142709	1	1	120830	2	31	1	0	1	1	1.991856	0	0.250000	2.020000	0.248120	0.990000	0.770000	1.000000	1.000000	0.957352	0.990000	1	8.800000e-01	1
ITPR3	3710	broad.mit.edu	37	6	33639826	33639826	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:33639826A>G	ENST00000374316.5	+	23	3809	c.2749A>G	c.(2749-2751)Atc>Gtc	p.I917V	ITPR3_ENST00000605930.1_Missense_Mutation_p.I917V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3			85				Caffeine(DB00201)	GCGGCGGTCCATCCAGGGCGT	0.637000																								0							SO:0001583	missense			ENST00000374316.5	0	1	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012952	0.75161	.	.	ENSG00000096433	ENST00000374316	D	0.91631	-2.88	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.61703	1.905	0.58432	D	0.999996	P	0.39326	0.668	B	0.40228	0.323	D	0.88114	0.2827	10	0.36615	T	0.2	-37.5928	15.5417	0.76057	1.0:0.0:0.0:0.0	.	917	Q14573	ITPR3_HUMAN	V	917	ENSP00000363435:I917V	ENSP00000363435:I917V	I	+	1	0	ITPR3	33747804	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.962000	0.93254	2.072000	0.62099	0.533000	0.62120	ATC		TCGA-2J-AABT-01A-11D-A40W-08	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	0	0	0	24	186	0	73	1	9.837154e-01	26	28	0	73	2								1	1.000000	24	184	0	73	2								-20.000000	1	1	121410	1	29	1	0	0	0	1.970494	0	0.250000	2.020000	0.238579	0.890000	0.600000	1.000000	1.000000	0.879634	0.890000	1	7.300000e-01	1
PPARD	5467	broad.mit.edu	37	6	35391924	35391924	+	Splice_Site	SNP	C	C	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr6:35391924C>A	ENST00000311565.4	+	7	975	c.626C>A	c.(625-627)gCg>gAg	p.A209E	PPARD_ENST00000418635.2_Splice_Site_p.A111E|PPARD_ENST00000360694.3_Splice_Site_p.A209E|PPARD_ENST00000448077.2_Splice_Site_p.A170E|PPARD_ENST00000540939.1_Splice_Site_p.A106E|PPARD_ENST00000337400.2_Splice_Site_p.A209E|PPARD_ENST00000444397.1_Splice_Site_p.A209E	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta			23				Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	AGCCACACGGCGGTGAGTGTT	0.597000																								0							SO:0001630	splice_region_variant			ENST00000311565.4	0	1	hg19	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704184	0.68615	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.58	5.58	0.84498	Nuclear hormone receptor, ligand-binding (1);	0.359711	0.29987	N	0.010699	T	0.33673	0.0871	L	0.27053	0.805	0.58432	D	0.999995	P;P;P;P	0.39311	0.667;0.53;0.667;0.573	B;B;B;B	0.26693	0.072;0.032;0.072;0.051	T	0.43376	-0.9395	10	0.10377	T	0.69	.	19.5633	0.95382	0.0:1.0:0.0:0.0	.	111;170;209;209	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	E	170;209;111;209;209;209;106	ENSP00000414372:A170E;ENSP00000353916:A209E;ENSP00000413314:A111E;ENSP00000410837:A209E;ENSP00000310928:A209E;ENSP00000337063:A209E;ENSP00000443759:A106E	ENSP00000310928:A209E	A	+	2	0	PPARD	35499902	1.000000	0.71417	0.990000	0.47175	0.826000	0.46750	6.967000	0.76079	2.650000	0.89964	0.591000	0.81541	GCG		TCGA-2J-AABT-01A-11D-A40W-08	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	0	0	0	4	142	0	66	0	7.326798e-01	0	89	0	66	2								1	0.884808	4	138	0	64	2								-6.394409	1	1	0	0		1	0	0	0	1.970494	0	0.250000	2.020000	0.238579	0.230000	0.070000	0.500000	0.210000	0.260434	0.230000	0	1.400000e-01	3.700000e-01
PLEC	5339	broad.mit.edu	37	8	144992109	144992109	+	Silent	SNP	G	G	A			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr8:144992109G>A	ENST00000322810.4	-	32	12460	c.12291C>T	c.(12289-12291)ccC>ccT	p.P4097P	PLEC_ENST00000436759.2_Silent_p.P3987P|PLEC_ENST00000354589.3_Silent_p.P3960P|PLEC_ENST00000527096.1_Silent_p.P3983P|PLEC_ENST00000357649.2_Silent_p.P3964P|PLEC_ENST00000354958.2_Silent_p.P3938P|PLEC_ENST00000345136.3_Silent_p.P3960P|PLEC_ENST00000356346.3_Silent_p.P3946P|PLEC_ENST00000398774.2_Silent_p.P3928P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					AGGCTGTGCCGGGGCGGATGA	0.627000																								0							SO:0001819	synonymous_variant			ENST00000322810.4	0	1	hg19	CCDS43772.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	0	0	12	115	0	37	1	1	97	327	0	37	2								1	0.999233	13	113	0	35	2								-3.076210	1	0	0	0		1	1	2	3	2.000711	0	0.250000	2.020000	0.251870	0.770000	0.420000	1.000000	1.000000	0.771725	0.770000	0	5.800000e-01	1
WRN	7486	broad.mit.edu	37	8	30999101	30999101	+	Silent	SNP	C	C	T			TCGA-2J-AABT-01A-11D-A40W-08	TCGA-2J-AABT-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af1eac7d-1a66-417f-af21-9118d666f77e	79a263d5-26dd-4f6d-b97d-14c14f0bbce5	g.chr8:30999101C>T	ENST00000298139.5	+	25	3372	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	p.C1041C(1)		60		Breast(100;0.195)			TGAAGATTTGCGCCCTTACGA	0.403000			Mis, N, F, S			osteosarcoma, meningioma, others		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		L, E, M, O	1	Substitution - coding silent(1)						SO:0001819	synonymous_variant	Familial Cancer Database	WS, Adult Progeria	ENST00000298139.5	0	1	hg19	CCDS6082.1																																																																																				TCGA-2J-AABT-01A-11D-A40W-08	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1	0	0	0	5	472	0	250	0	3.614626e-03	0	7	0	250	2								1	0.936459	5	468	0	247	2								-2.131783	0	1	121412	5	39	1	1	2	3	2.000711	0	0.250000	2.020000	0.251870	0.090000	0.020000	0.210000	0.080000	0.108653	0.090000	0	5.000000e-02	1.400000e-01