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
OR10G4	390264	broad.mit.edu	37	11	123886737	123886737	+	Silent	SNP	T	T	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:123886737T>C	ENST00000320891.4	+	1	456	c.456T>C	c.(454-456)tcT>tcC	p.S152S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4			48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TCAGTGGCTCTCTGCACTCTG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000320891.4	1	1	hg19	CCDS31702.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	0	0	0	39	1245	0	191		0	0	0	0	191	2		0	0	0	0	0	2	1	1	35	1130	0	295	2		0	0	0	0	191	2	-3.589987	1	1	0	0		1	0	0	0	1.950642	0	0.160000	2	0.135091	0.360000	0.260000	0.490000	0.370000	0.375724	0.360000	0	0.310000	0.430000
SLC22A8	9376	broad.mit.edu	37	11	62760741	62760741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:62760741G>A	ENST00000336232.2	-	11	1732	c.1597C>T	c.(1597-1599)Cag>Tag	p.Q533*	SLC22A8_ENST00000535878.1_Nonsense_Mutation_p.Q410*|SLC22A8_ENST00000545207.1_Nonsense_Mutation_p.Q442*|SLC22A8_ENST00000430500.2_Nonsense_Mutation_p.Q533*|SLC22A8_ENST00000311438.8_3'UTR|SLC22A8_ENST00000542795.1_5'Flank	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8			28				Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCGTGAGGCTGTAGAGGGATC	0.607000																								0							SO:0001587	stop_gained			ENST00000336232.2	0	1	hg19	CCDS8042.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.200000	3.942501	0.736720	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000430500	.	.	.	5.260000	3.290000	0.377130	.	0.598101	0.15881	N	0.240067	.	.	.	.	.	.	0.367020	D	0.880157	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	10.463200	0.445920	0.0:0.0:0.5628:0.4372	.	.	.	.	X	533;519;442;410;533	.	ENSP00000337335:Q533X	Q	-	1	0	SLC22A8	62517317	9.700000e-01	0.335900	8.890000e-01	0.348800	5.200000e-01	0.343770	1.273000	0.331210	0.615000	0.301240	0.561000	0.740990	CAG		TCGA-HZ-8003-01A-21D-2201-08	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	0	0	0	5	192	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	9.340468e-01	5	187	0	34	2		0	0	0	0	35	2	-3.483756	1	1	121412	3	29	1	1	2	3	2.021625	0	0.160000	2	0.167987	0.360000	0.130000	1.000000	0.320000	0.431721	0.360000	0	0.220000	0.610000
KDM2A	22992	broad.mit.edu	37	11	67018096	67018096	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:67018096G>A	ENST00000529006.2	+	17	3041	c.2595G>A	c.(2593-2595)gaG>gaA	p.E865E	KDM2A_ENST00000308783.5_Silent_p.E323E|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Silent_p.E426E|KDM2A_ENST00000398645.2_Intron	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A			36					aggaggaggaggaagaTGACA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000529006.2	0	1	hg19	CCDS44657.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	0	0	0	5	212	0	46	0	1.927217e-01	0	29	0	46	2		0	0	0	0	0	2	1	9.382630e-01	2	215	0	46	2		0	0	0	0	46	2	-6.527559	1	0	0	0		1	1	2	3	2.021625	0	0.160000	2	0.167987	0.330000	0.120000	1.000000	0.280000	0.401878	0.330000	0	0.200000	0.550000
SHANK2	22941	broad.mit.edu	37	11	70332827	70332827	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr11:70332827C>T	ENST00000423696.2	-	15	2470	c.2434G>A	c.(2434-2436)Gcg>Acg	p.A812T	SHANK2_ENST00000338508.4_Missense_Mutation_p.A1192T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A596T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A595T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2			62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		CCGCTGCTCGCGGAGGGCACT	0.706000																								0							SO:0001583	missense			ENST00000423696.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.010000	-1.777281	0.006400	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	3.620000	1.140000	0.207030	.	1.993000	0.03565	N	0.227639	T	0.30293	0.0760	L	0.29908	0.895	0.274470	N	0.953541	B;B;B	0.17667	0.008;0.023;0.023	B;B;B	0.08055	0.001;0.002;0.003	T	0.13791	-1.0496	10	0.20046	T	0.44	.	5.831000	0.185810	0.0:0.0901:0.3193:0.5906	.	812;1191;596	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	T	596;595;470;1192;812;830;815	ENSP00000399423:A596T;ENSP00000386491:A595T;ENSP00000402944:A470T;ENSP00000345193:A1192T;ENSP00000394536:A812T;ENSP00000294018:A815T	ENSP00000294018:A815T	A	-	1	0	SHANK2	70010475	1	0.714170	1.000000e-03	0.086480	0	0.004340	1.432000	0.349360	-0.061000	0.131100	-0.340000	0.080310	GCG		TCGA-HZ-8003-01A-21D-2201-08	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		0	0	0	9	464	0	71	0	4.844705e-04	0	2	0	71	2		0	0	0	0	0	2	1	9.939081e-01	9	457	0	70	2		0	0	0	0	71	2	-8.063042	1	1	0	0		1	2	3	5	2.257427	1	0.160000	2	0.259520	0.320000	0.140000	1.000000	0.260000	0.464717	0.320000	0	0.210000	1.000000
RPH3A	22895	broad.mit.edu	37	12	113303278	113303278	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr12:113303278G>A	ENST00000389385.4	+	6	787	c.290G>A	c.(289-291)cGc>cAc	p.R97H	RPH3A_ENST00000543106.2_Missense_Mutation_p.R97H|RPH3A_ENST00000551052.1_Missense_Mutation_p.R93H|RPH3A_ENST00000415485.3_Missense_Mutation_p.R97H|RPH3A_ENST00000548866.1_Missense_Mutation_p.R48H|RPH3A_ENST00000447659.2_Missense_Mutation_p.R48H|RPH3A_ENST00000420983.2_Missense_Mutation_p.R97H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A			47					GGGGTGAACCGCTGCATACTG	0.522000																								0							SO:0001583	missense			ENST00000389385.4	1	1	hg19	CCDS44979.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	25.200000	4.613988	0.873590	.	.	ENSG00000089169	ENST00000548197;ENST00000543106;ENST00000551593;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000550901;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.610000	5.610000	0.854770	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000006	T	0.78811	0.4342	L	0.35487	1.065	0.807220	D	1.000000	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	P;P;P;P	0.60173	0.87;0.605;0.605;0.778	T	0.79293	-0.1863	10	0.51188	T	0.08	.	18.409700	0.905480	0.0:0.0:1.0:0.0	.	48;97;97;93	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	97;97;97;97;97;97;97;97;48;30;97;93;97;97;48;97	ENSP00000446570:R97H;ENSP00000440384:R97H;ENSP00000446780:R97H;ENSP00000450382:R97H;ENSP00000449613:R97H;ENSP00000447505:R97H;ENSP00000449650:R97H;ENSP00000374036:R97H;ENSP00000413254:R48H;ENSP00000448100:R30H;ENSP00000447083:R97H;ENSP00000448297:R93H;ENSP00000405357:R97H;ENSP00000450216:R97H;ENSP00000450347:R48H;ENSP00000408889:R97H	ENSP00000374036:R97H	R	+	2	0	RPH3A	111787661	1	0.714170	1	0.803570	9.980000e-01	0.957120	7.191000	0.777630	2.631000	0.891680	0.655000	0.942530	CGC		TCGA-HZ-8003-01A-21D-2201-08	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	1	0	0	34	637	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1	29	627	0	104	2		0	0	0	0	105	2	-3.141877	1	1	121412	1	33	1	0	1	1	1.992052	0	0.160000	2	0.155270	0.620000	0.440000	0.840000	0.620000	0.641146	0.620000	0	0.530000	0.740000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	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	28.600000	4.930538	0.923890	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.807220	D	1.000000	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	.	18.371900	0.904090	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	0.714170	1	0.803570	9.980000e-01	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-HZ-8003-01A-21D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	8	186	0	18	1	3.309613e-01	4	22	0	18	2	1	9.999589e-01	18	530	0	434	2	1	9.886745e-01	8	181	0	17	2	1	1	331	7683	0	18	2	-4.093351	1	1	0	0		1	0	1	1	1.992052	0	0.160000	2	0.155270	0.520000	0.250000	0.920000	0.500000	0.553278	0.520000	0	0.370000	0.720000
HNRNPC	3183	broad.mit.edu	37	14	21680019	21680019	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:21680019G>T	ENST00000320084.7	-	6	865	c.626C>A	c.(625-627)tCt>tAt	p.S209Y	HNRNPC_ENST00000420743.2_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556142.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554455.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000556628.1_Missense_Mutation_p.S129Y|HNRNPC_ENST00000336053.6_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555309.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000553300.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000557201.1_Missense_Mutation_p.S209Y|HNRNPC_ENST00000554969.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000555883.1_Missense_Mutation_p.S153Y|HNRNPC_ENST00000555914.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556897.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000553753.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000449098.1_Missense_Mutation_p.S196Y|HNRNPC_ENST00000430246.2_Missense_Mutation_p.S196Y|HNRNPC_ENST00000556513.1_Missense_Mutation_p.S209Y	NM_001077442.1	NP_001070910.1	P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)			9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)		TTCCAGGAGAGAATCCACTTT	0.363000													NSCLC(108;607 2244 12726 38757)											0							SO:0001583	missense			ENST00000320084.7	1	1	hg19	CCDS41915.1	.	.	.	.	.	.	.	.	.	.	G	10.190000	1.282988	0.233920	.	.	ENSG00000092199	ENST00000336053;ENST00000320084;ENST00000449098;ENST00000554969;ENST00000556142;ENST00000554455;ENST00000430246;ENST00000553753;ENST00000555914;ENST00000555309;ENST00000556628;ENST00000555883;ENST00000556513;ENST00000557201;ENST00000553300;ENST00000216296;ENST00000556897;ENST00000420743;ENST00000557157;ENST00000445284;ENST00000554539;ENST00000554383	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15603	2.79;2.97;2.82;2.82;2.81;2.97;2.82;2.79;2.82;2.99;2.41;2.59;2.81;2.97;2.82;2.82;2.97;2.63;2.41;2.8	5.340000	4.430000	0.535970	.	0.215683	0.29565	U	0.011792	T	0.17066	0.0410	L	0.44542	1.39	0.356000	D	0.807759	B;B;B;B;B;B;B	0.30482	0.182;0.101;0.039;0.001;0.281;0.185;0.162	B;B;B;B;B;B;B	0.29524	0.045;0.026;0.057;0.005;0.103;0.032;0.094	T	0.14062	-1.0486	10	0.48119	T	0.1	.	14.554500	0.680910	0.0:0.0:0.8522:0.1478	.	104;196;129;153;196;209;196	B4DQQ2;B4DY08;P07910-3;P07910-4;G3V4C1;P07910;P07910-2	.;.;.;.;.;HNRPC_HUMAN;.	Y	196;209;196;196;209;209;196;196;196;209;129;153;209;209;196;104;196;209;117;209;93;196	ENSP00000338095:S196Y;ENSP00000319690:S209Y;ENSP00000404559:S196Y;ENSP00000450725:S196Y;ENSP00000451187:S209Y;ENSP00000451291:S209Y;ENSP00000442816:S196Y;ENSP00000450548:S196Y;ENSP00000451708:S196Y;ENSP00000450790:S209Y;ENSP00000451652:S129Y;ENSP00000450629:S153Y;ENSP00000452214:S209Y;ENSP00000452276:S209Y;ENSP00000450544:S196Y;ENSP00000451176:S196Y;ENSP00000404848:S209Y;ENSP00000450601:S117Y;ENSP00000452545:S93Y;ENSP00000452021:S196Y	ENSP00000216296:S104Y	S	-	2	0	HNRNPC	20749859	1	0.714170	9.960000e-01	0.522420	9.860000e-01	0.746190	4.949000	0.635960	1.358000	0.459220	0.655000	0.942530	TCT		TCGA-HZ-8003-01A-21D-2201-08	HNRNPC-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410235.1	0	0	1	25	1059	1	119	1	4.110100e-01	127	1097	1	119	31		0	0	0	0	0	2	1	9.999997e-01	25	1028	0	119	2		0	0	0	1	119	2	-2.624841	1	1	120962	1	29	1	1	2	3	2.016841	0	0.160000	2	0.166667	0.290000	0.190000	1.000000	0.290000	0.356875	0.290000	0	0.240000	0.380000
SYNE2	23224	broad.mit.edu	37	14	64580216	64580216	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr14:64580216A>G	ENST00000344113.4	+	66	12979	c.12767A>G	c.(12766-12768)aAc>aGc	p.N4256S	SYNE2_ENST00000357395.3_Missense_Mutation_p.N641S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N4256S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N890S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.N4271S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N641S	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2			224					CAACAAGCCAACGTGGCAGTT	0.577000																								0							SO:0001583	missense			ENST00000344113.4	1	1	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	12.330000	1.904349	0.336280	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553308	T;T;T;T;T;T	0.56611	0.84;4.14;0.84;0.45;4.19;4.14	5.730000	0.724000	0.182360	.	0.494042	0.20205	N	0.097004	T	0.37758	0.1015	L	0.32530	0.975	0.807220	D	1.000000	B;B;B	0.23377	0.004;0.051;0.084	B;B;B	0.18561	0.008;0.01;0.022	T	0.10989	-1.0606	10	0.46703	T	0.11	.	9.713100	0.402580	0.7534:0.0:0.2466:0.0	.	641;4256;4256	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	S	4256;641;4256;4271;4271;890;641;148	ENSP00000350719:N4256S;ENSP00000349969:N641S;ENSP00000341781:N4256S;ENSP00000452570:N4271S;ENSP00000450831:N890S;ENSP00000378249:N641S	ENSP00000261678:N4271S	N	+	2	0	SYNE2	63649969	7.650000e-01	0.284850	9.980000e-01	0.565050	9.990000e-01	0.989320	0.068000	0.145310	-0.097000	0.123070	0.533000	0.621200	AAC		TCGA-HZ-8003-01A-21D-2201-08	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	1	0	0	10	205	0	53	1	5.328914e-01	5	31	0	53	2		0	0	0	0	0	2	1	9.963774e-01	9	197	0	53	2		0	0	0	0	53	2	-13.252750	1	1	0	0		1	1	2	3	2.014147	0	0.160000	2	0.166005	0.610000	0.310000	1.000000	1.000000	0.647840	0.610000	0	0.440000	0.870000
SRCAP	10847	broad.mit.edu	37	16	30723229	30723229	+	Silent	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:30723229A>G	ENST00000262518.4	+	12	1951	c.1566A>G	c.(1564-1566)gcA>gcG	p.A522A	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Silent_p.A522A|SRCAP_ENST00000395059.2_Silent_p.A522A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein			136			Colorectal(24;0.198)		GAAGTTCAGCATCAGAGGAAT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000262518.4	1	1	hg19	CCDS10689.2																																																																																				TCGA-HZ-8003-01A-21D-2201-08	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	0	0	1	13	426	0	76	1	5.296234e-01	10	46	0	76	2		0	0	0	0	0	2	1	9.994734e-01	12	417	0	76	2		0	0	0	0	76	2	-12.781280	1	1	121412	2	40	1	1	2	3	2.025899	0	0.160000	2	0.168646	0.390000	0.210000	1.000000	0.360000	0.459368	0.390000	0	0.290000	0.570000
WDR90	197335	broad.mit.edu	37	16	716059	716059	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:716059C>T	ENST00000293879.4	+	36	4544	c.4544C>T	c.(4543-4545)aCg>aTg	p.T1515M	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000549091.1_Missense_Mutation_p.T1517M|WDR90_ENST00000547944.1_Missense_Mutation_p.T114M|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000315764.4_Missense_Mutation_p.T114M			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			GTCTCCCGCACGGCCATGGAG	0.677000																								0							SO:0001583	missense			ENST00000293879.4	0	1	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	5.658000	0.306009	0.107330	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.65549	3.43;1.56;-0.16;1.62	4.450000	1.230000	0.212490	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.085630	0.06926	N	0.810310	T	0.47173	0.1431	L	0.41027	1.25	0.093100	N	1.000000	P;P;P;P	0.45428	0.858;0.823;0.621;0.729	B;B;B;B	0.33042	0.133;0.157;0.05;0.121	T	0.28618	-1.0038	10	0.33940	T	0.23	.	8.672100	0.341560	0.0:0.8547:0.0:0.1453	.	114;114;114;1515	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	M	1517;1515;114;114	ENSP00000448122:T1517M;ENSP00000293879:T1515M;ENSP00000449576:T114M;ENSP00000322808:T114M	ENSP00000293879:T1515M	T	+	2	0	WDR90	656060	3.640000e-01	0.249970	0	0.037020	9.700000e-02	0.187540	2.238000	0.430700	-0.005000	0.143950	0.561000	0.740990	ACG		TCGA-HZ-8003-01A-21D-2201-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	0	0	14	633	0	117	0	2.654613e-02	0	11	0	117	2		0	0	0	0	0	2	1	9.997215e-01	14	622	0	116	2		0	0	0	0	117	2	-3.024447	1	1	120706	4	37	1	1	2	3	2.016491	0	0.160000	2	0.166667	0.280000	0.150000	1.000000	0.270000	0.346492	0.280000	0	0.210000	0.390000
ANKRD11	29123	broad.mit.edu	37	16	89346134	89346134	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr16:89346134G>A	ENST00000301030.4	-	9	7276	c.6816C>T	c.(6814-6816)gaC>gaT	p.D2272D	ANKRD11_ENST00000378330.2_Silent_p.D2272D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11			83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)			GGGCGGGGCCGTCAGGGGCAC	0.756000																								0							SO:0001819	synonymous_variant			ENST00000301030.4	0	1	hg19	CCDS32513.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	0	0	0	3	42	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	7.818303e-01	3	38	0	22	2		0	0	0	0	21	2	-8.793342	1	1	111222	1	22	1	1	2	3	2.061087	0	0.160000	2	0.175824	0.990000	0.290000	1.000000	1.000000	0.839727	0.990000	1	0.560000	1.000000
DHX58	79132	broad.mit.edu	37	17	40262918	40262918	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:40262918G>A	ENST00000251642.3	-	5	606	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58			16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)			CATCCACCACGATCAGGGAGA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000251642.3	1	1	hg19	CCDS11416.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	0	0	0	27	801	0	110	1	3.424598e-01	10	26	0	110	2		0	0	0	0	0	2	1	9.999999e-01	26	785	0	110	2		0	0	0	0	110	2	-2.998511	1	1	0	0		1	1	2	3	2.004222	0	0.160000	2	0.164013	0.410000	0.270000	1.000000	0.410000	0.448292	0.410000	0	0.340000	0.520000
PDK2	5164	broad.mit.edu	37	17	48187345	48187345	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:48187345C>A	ENST00000503176.1	+	11	1269	c.1108C>A	c.(1108-1110)Cgc>Agc	p.R370S	PDK2_ENST00000007708.3_Missense_Mutation_p.R306S	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2			20					CTCGGTGGAGCGCCTGCCTGT	0.662000									Autosomal Dominant Polycystic Kidney Disease															0							SO:0001583	missense	Familial Cancer Database	ADPKD	ENST00000503176.1	0	1	hg19	CCDS11559.1	.	.	.	.	.	.	.	.	.	.	C	14.840000	2.654518	0.474670	.	.	ENSG00000005882	ENST00000007708;ENST00000503176	T;T	0.42513	0.98;0.97	4.310000	4.310000	0.513920	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.41811	0.1175	M	0.79475	2.455	0.530050	D	0.999960	P	0.41929	0.765	B	0.38327	0.271	T	0.41233	-0.9520	10	0.35671	T	0.21	-19.2597	10.109500	0.425550	0.3243:0.6757:0.0:0.0	.	370	Q15119	PDK2_HUMAN	S	306;370	ENSP00000007708:R306S;ENSP00000420927:R370S	ENSP00000007708:R306S	R	+	1	0	PDK2	45542344	1	0.714170	1	0.803570	9.920000e-01	0.810270	3.365000	0.523350	2.121000	0.651140	0.462000	0.415740	CGC		TCGA-HZ-8003-01A-21D-2201-08	PDK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366492.2	0	0	0	3	54	0	17	0	9.588789e-01	0	118	0	17	2		0	0	0	0	0	2	1	8.069441e-01	3	53	0	17	2		0	0	0	0	17	2	-7.402529	1	0	0	0		1	1	2	3	2.004222	0	0.160000	2	0.164013	0.740000	0.210000	1.000000	1.000000	0.721220	0.740000	0	0.420000	1.000000
TP53	7157	broad.mit.edu	37	17	7579317	7579317	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:7579317A>G	ENST00000269305.4	-	4	559	c.370T>C	c.(370-372)Tgc>Cgc	p.C124R	TP53_ENST00000445888.2_Missense_Mutation_p.C124R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C124R|TP53_ENST00000420246.2_Missense_Mutation_p.C124R|TP53_ENST00000359597.4_Missense_Mutation_p.C124R|TP53_ENST00000413465.2_Missense_Mutation_p.C124R	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.0?(8)|p.C124G(4)|p.C124R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.C124fs*46(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.C124fs*48(1)|p.C124fs*25(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CTGACCGTGCAAGTCACAGAC	0.542000		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	28	Deletion - Frameshift(9)|Substitution - Missense(8)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.000000	4.075353	0.764150	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63	4.750000	4.750000	0.604580	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.099990	0.64402	D	0.000002	D	0.99674	0.9878	M	0.78049	2.395	0.807220	D	1.000000	D;P;D;P;D;D;D	0.89917	0.988;0.934;1.0;0.923;0.999;1.0;0.986	P;P;D;P;D;D;D	0.91635	0.883;0.806;0.997;0.63;0.995;0.999;0.918	D	0.97415	1.0005	10	0.72032	D	0.01	-11.7577	12.536300	0.561440	1.0:0.0:0.0:0.0	.	85;124;124;124;124;124;124	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	124;124;124;124;124;124;113;124;124	ENSP00000410739:C124R;ENSP00000352610:C124R;ENSP00000269305:C124R;ENSP00000398846:C124R;ENSP00000391127:C124R;ENSP00000391478:C124R;ENSP00000424104:C124R;ENSP00000426252:C124R	ENSP00000269305:C124R	C	-	1	0	TP53	7520042	1	0.714170	9.930000e-01	0.491080	9.840000e-01	0.730920	5.673000	0.681090	2.125000	0.653670	0.533000	0.621200	TGC		TCGA-HZ-8003-01A-21D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	0	11	658	0	140	1	4.569220e-01	15	73	0	140	2	1	5.898037e-01	6	109	0	69	2	1	9.981255e-01	11	643	0	139	2		0	0	0	0	140	2	-8.451235	1	1	0	0		1	1	2	3	2.004222	0	0.160000	2	0.164013	0.210000	0.110000	1.000000	0.210000	0.259408	0.210000	0	0.150000	0.300000
NOTUM	147111	broad.mit.edu	37	17	79910974	79910974	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr17:79910974C>T	ENST00000409678.3	-	11	1737	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)			15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		TGGTCTCGGACGGTGGGGCAT	0.662000																								0							SO:0001583	missense			ENST00000409678.3	0	1	hg19	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	5.424000	0.263310	0.102940	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.840000	1.170000	0.208850	.	0.216848	0.47852	N	0.000211	T	0.07188	0.0182	N	0.01352	-0.895	0.214730	N	0.999676	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	9	0.02654	T	1	.	5.250500	0.155190	0.0:0.1662:0.1503:0.6835	.	452	Q6P988	NOTUM_HUMAN	I	452	.	ENSP00000387310:V452I	V	-	1	0	NOTUM	77504264	1	0.714170	9.990000e-01	0.593770	8.820000e-01	0.509910	1.932000	0.401430	0.228000	0.210190	-0.402000	0.063650	GTC		TCGA-HZ-8003-01A-21D-2201-08	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	0	0	0	7	450	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	9.786830e-01	7	437	0	76	2		0	0	0	0	76	2	-6.312783	1	0	121412	1	28	1	1	2	3	2.004222	0	0.160000	2	0.164013	0.200000	0.080000	1.000000	0.190000	0.253273	0.200000	0	0.130000	0.310000
SPC24	147841	broad.mit.edu	37	19	11258504	11258504	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11258504C>A	ENST00000592540.1	-	4	508	c.477G>T	c.(475-477)atG>atT	p.M159I		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component			5					TGCCTTTGACCATCCCTGGCT	0.413000																								0							SO:0001583	missense			ENST00000592540.1	0	1	hg19	CCDS45974.1	.	.	.	.	.	.	.	.	.	.	C	0.004000	-2.267896	0.002590	.	.	ENSG00000161888	ENST00000429831;ENST00000423327	.	.	.	5.090000	-3.270000	0.050480	.	0.808315	0.11282	N	0.580210	T	0.20901	0.0503	N	0.17082	0.46	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	9	0.19590	T	0.45	-10.8297	8.142000	0.310890	0.1205:0.2107:0.5919:0.077	.	159	Q8NBT2	SPC24_HUMAN	I	113;159	.	ENSP00000397131:M159I	M	-	3	0	SPC24	11119504	0	0.058580	7.000000e-03	0.137880	1.240000e-01	0.203990	-0.899000	0.041010	-0.105000	0.121320	-0.150000	0.136520	ATG		TCGA-HZ-8003-01A-21D-2201-08	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453059.1	0	0	0	5	124	0	11	0	1.343387e-02	0	4	0	11	2		0	0	0	0	0	2	1	9.292268e-01	2	120	0	11	2		0	0	0	0	11	2	-8.036516	1	0	0	0		1	1	2	3	2.029693	0	0.160000	2	0.169304	0.550000	0.200000	1.000000	1.000000	0.601977	0.550000	0	0.350000	0.950000
CCDC159	126075	broad.mit.edu	37	19	11464523	11464523	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:11464523G>T	ENST00000588790.1	+	11	1192	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Missense_Mutation_p.A249S|DKFZP761J1410_ENST00000251473.5_5'Flank			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159			5					GTGCTCGGGGGCCTGTCCCAA	0.587000																								0							SO:0001583	missense			ENST00000588790.1	0	1	hg19	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	6.981000	0.551134	0.133740	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	T	0.44881	0.91	4.030000	-1.860000	0.077600	.	.	.	.	.	T	0.20618	0.0496	N	0.22421	0.69	0.093100	N	1.000000	B;B	0.19200	0.034;0.003	B;B	0.21151	0.033;0.01	T	0.28933	-1.0028	9	0.10377	T	0.69	.	3.283600	0.069240	0.4716:0.0:0.3389:0.1894	.	364;249	P0C7I6;P0C7I6-2	CC159_HUMAN;.	S	249;364	ENSP00000402239:A249S	ENSP00000390400:A364S	A	+	1	0	CCDC159	11325523	0	0.058580	0	0.037020	6.000000e-03	0.054640	0.226000	0.177760	-0.209000	0.101560	0.313000	0.208870	GCC		TCGA-HZ-8003-01A-21D-2201-08	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	0	0	0	7	62	0	8	0	8.287214e-01	0	30	0	8	2		0	0	0	0	0	2	1	9.805284e-01	6	61	0	8	2		0	0	0	0	8	2	-2.607937	1	1	0	0		1	1	2	3	2.029693	0	0.160000	2	0.169304	0.990000	0.600000	1.000000	1.000000	0.957623	0.990000	1	0.910000	1.000000
ZNF442	79973	broad.mit.edu	37	19	12462842	12462842	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:12462842T>C	ENST00000242804.4	-	5	830	c.248A>G	c.(247-249)aAt>aGt	p.N83S	ZNF442_ENST00000438182.1_Missense_Mutation_p.N14S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442			31					CCTCCTGGGATTTCTGTGCTG	0.358000																								0							SO:0001583	missense			ENST00000242804.4	1	1	hg19	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	11.220000	1.573187	0.280920	.	.	ENSG00000198342	ENST00000242804;ENST00000438182;ENST00000424168	T;T;T	0.06371	3.41;3.31;3.99	1.510000	1.510000	0.230080	Krueppel-associated box (3);	.	.	.	.	T	0.02970	0.0088	N	0.13327	0.33	0.093100	N	1.000000	P	0.36616	0.561	B	0.32864	0.154	T	0.43589	-0.9382	9	0.14656	T	0.56	.	5.400700	0.162950	0.0:0.0:0.0:1.0	.	83	Q9H7R0	ZN442_HUMAN	S	83;14;14	ENSP00000242804:N83S;ENSP00000388634:N14S;ENSP00000404935:N14S	ENSP00000242804:N83S	N	-	2	0	ZNF442	12323842	3.000000e-03	0.150020	2.320000e-01	0.240090	6.130000e-01	0.373490	0.306000	0.192790	0.617000	0.301600	0.260000	0.189580	AAT		TCGA-HZ-8003-01A-21D-2201-08	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	0	0	0	15	529	0	51	0	1.251004e-02	0	6	0	51	2		0	0	0	0	0	2	1	9.998278e-01	13	508	0	51	2		0	0	0	0	51	2	-3.563255	1	1	0	0		1	1	2	3	2.029693	0	0.160000	2	0.169304	0.360000	0.200000	1.000000	0.350000	0.437705	0.360000	0	0.270000	0.520000
CYP4F11	57834	broad.mit.edu	37	19	16024638	16024638	+	Silent	SNP	C	C	T	rs143714626	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:16024638C>T	ENST00000402119.4	-	12	1905	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P	CYP4F11_ENST00000248041.8_Silent_p.P493P|CYP4F11_ENST00000591841.1_Silent_p.P168P|CYP4F11_ENST00000326742.8_3'UTR	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11			25					CAGTGTGGGTCGGCAGGATGC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000402119.4	0	1	hg19	CCDS12337.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	0	0	0	6	284	0	46	1	7.994487e-02	2	17	0	46	2		0	0	0	0	0	2	1	9.601589e-01	6	271	0	46	2		0	0	0	0	46	2	-6.868998	1	1	121412	7	39	1	1	2	3	2.029693	0	0.160000	2	0.169304	0.290000	0.110000	1.000000	0.250000	0.376260	0.290000	0	0.190000	0.490000
AP3D1	8943	broad.mit.edu	37	19	2110781	2110781	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:2110781G>A	ENST00000345016.5	-	25	3145	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	AP3D1_ENST00000356926.4_Missense_Mutation_p.L931F|AP3D1_ENST00000350812.6_Missense_Mutation_p.L803F|AP3D1_ENST00000355272.6_Missense_Mutation_p.L1034F	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit			37		Hepatocellular(1079;0.137)			CTGGCATTGAGTGAGTCCAGC	0.667000																								0							SO:0001583	missense			ENST00000345016.5	0	1	hg19	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	G	22.500000	4.297458	0.810250	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.810000	3.760000	0.432080	.	0.000000	0.64402	D	0.000001	T	0.68357	0.2992	M	0.72118	2.19	0.807220	D	1.000000	D;D;D;D	0.89917	0.999;1.0;0.994;0.992	D;D;D;P	0.85130	0.958;0.997;0.924;0.876	T	0.69007	-0.5259	10	0.44086	T	0.13	-39.004	12.064100	0.535780	0.0879:0.0:0.9121:0.0	.	803;1034;972;931	E7EMM2;O14617-5;O14617;G5E988	.;.;AP3D1_HUMAN;.	F	931;972;1034;840;803	ENSP00000349398:L931F;ENSP00000344055:L972F;ENSP00000347416:L1034F;ENSP00000342321:L803F	ENSP00000341579:L840F	L	-	1	0	AP3D1	2061781	1	0.714170	9.600000e-01	0.400130	9.590000e-01	0.625250	6.290000	0.727120	2.214000	0.716950	0.491000	0.489740	CTC		TCGA-HZ-8003-01A-21D-2201-08	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1	0	0	1	12	263	0	36	1	9.806551e-01	16	131	0	36	2		0	0	0	0	0	2	1	9.990102e-01	11	256	0	36	2		0	0	0	0	36	2	-14.320280	1	1	0	0		1	1	2	3	2.029693	0	0.160000	2	0.169304	0.580000	0.310000	1.000000	0.550000	0.628511	0.580000	0	0.430000	0.850000
ZNF134	7693	broad.mit.edu	37	19	58131705	58131705	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:58131705A>G	ENST00000396161.5	+	3	528	c.218A>G	c.(217-219)cAt>cGt	p.H73R	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134			11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)			GGTACACACCATGGACTGAAA	0.488000																								0							SO:0001583	missense			ENST00000396161.5	0	1	hg19	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	A	9.039000	0.989204	0.189660	.	.	ENSG00000213762	ENST00000418193;ENST00000396161	T	0.19394	2.15	4.050000	-1.240000	0.094350	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	N	0.21583	0.68	0.093100	N	1.000000	B	0.13594	0.008	B	0.14578	0.011	T	0.34403	-0.9830	9	0.87932	D	0	.	0.849600	0.011690	0.3547:0.262:0.0975:0.2858	.	73	P52741	ZN134_HUMAN	R	140;73	ENSP00000379464:H73R	ENSP00000379464:H73R	H	+	2	0	ZNF134	62823517	0	0.058580	0	0.037020	9.690000e-01	0.656310	-1.220000	0.029710	-0.103000	0.121750	0.533000	0.621200	CAT		TCGA-HZ-8003-01A-21D-2201-08	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	0	0	0	13	793	0	112	0	8.698892e-02	1	27	0	112	2		0	0	0	0	0	2	1	9.994290e-01	13	769	0	112	2		0	0	0	0	112	2	-3.322656	1	1	0	0		1	0	0	0	1.944917	0	0.160000	2	0.132231	0.190000	0.100000	0.320000	0.190000	0.207953	0.190000	0	0.140000	0.260000
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	8	583	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	9.884413e-01	7	571	0	67	2		0	0	0	0	67	2	-2.340643	0	1	0	0		1	1	2	3	2.029693	0	0.160000	2	0.169304	0.180000	0.080000	1.000000	0.170000	0.280620	0.180000	0	0.120000	0.300000
TXNIP	10628	broad.mit.edu	37	1	145440118	145440118	+	Silent	SNP	T	T	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:145440118T>A	ENST00000369317.4	+	4	886	c.552T>A	c.(550-552)atT>atA	p.I184I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein			21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				CTGCTCGAATTGACAGAAAAG	0.448000																								0							SO:0001819	synonymous_variant			ENST00000369317.4	1	1	hg19	CCDS913.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	1	0	0	45	1109	0	186	1	1	136	2573	0	186	2		0	0	0	0	0	2	1	1	45	1085	0	185	2		0	0	0	0	186	2	-20.000000	1	1	0	0		1	1	2	3	2.028002	0	0.160000	2	0.169304	0.500000	0.360000	1.000000	0.490000	0.556546	0.500000	0	0.420000	0.620000
SPTA1	6708	broad.mit.edu	37	1	158631116	158631116	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:158631116G>C	ENST00000368147.4	-	18	2728	c.2548C>G	c.(2548-2550)Caa>Gaa	p.Q850E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				GTTATCTCTTGAATGCGTGGT	0.443000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	0.767000	-0.767128	0.029740	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.30448	1.53;1.53	4.810000	3.880000	0.447660	.	.	.	.	.	T	0.08223	0.0205	L	0.36672	1.1	0.093100	N	1.000000	B	0.11235	0.004	B	0.15052	0.012	T	0.32561	-0.9902	9	0.09590	T	0.72	.	10.657900	0.456860	0.0:0.0:0.5318:0.4682	.	850	P02549	SPTA1_HUMAN	E	850	ENSP00000357130:Q850E;ENSP00000357129:Q850E	ENSP00000357129:Q850E	Q	-	1	0	SPTA1	156897740	8.190000e-01	0.291750	1.200000e-02	0.152000	5.700000e-02	0.155080	2.290000	0.435310	1.197000	0.431430	0.650000	0.862430	CAA		TCGA-HZ-8003-01A-21D-2201-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	0	0	21	866	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	9.999969e-01	21	849	0	100	2		0	0	0	0	100	2	-2.596286	1	1	0	0		1	1	2	3	2.028002	0	0.160000	2	0.169304	0.310000	0.190000	1.000000	0.300000	0.387959	0.310000	0	0.240000	0.420000
ASPM	259266	broad.mit.edu	37	1	197062202	197062202	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:197062202C>T	ENST00000367409.4	-	21	9530	c.9274G>A	c.(9274-9276)Ggt>Agt	p.G3092S	ASPM_ENST00000294732.7_Missense_Mutation_p.G1507S|ASPM_ENST00000367408.1_Missense_Mutation_p.G757S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)			165					ACTAGCCAACCACGCACCAGT	0.323000																								0							SO:0001583	missense			ENST00000367409.4	0	1	hg19	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	28.100000	4.887516	0.918140	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.42513	0.97;0.97;0.97	5.280000	5.280000	0.743790	.	0.059343	0.64402	D	0.000004	T	0.65417	0.2689	M	0.77103	2.36	0.547530	D	0.999985	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.79108	0.992;0.987;0.893	T	0.66787	-0.5835	10	0.46703	T	0.11	.	16.059300	0.808300	0.0:1.0:0.0:0.0	.	1078;1507;3092	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	S	3092;1507;757;1078	ENSP00000356379:G3092S;ENSP00000294732:G1507S;ENSP00000356378:G757S	ENSP00000294732:G1507S	G	-	1	0	ASPM	195328825	9.380000e-01	0.318260	1	0.803570	9.880000e-01	0.763860	1.931000	0.401340	2.447000	0.827920	0.655000	0.942530	GGT		TCGA-HZ-8003-01A-21D-2201-08	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	0	0	0	10	521	0	51	0	1.174157e-02	1	7	0	51	2		0	0	0	0	0	2	1	9.965885e-01	10	510	0	50	2		0	0	0	0	51	2	-2.891575	1	1	121404	1	28	1	1	2	3	2.018291	0	0.160000	2	0.167328	0.250000	0.120000	1.000000	0.230000	0.323779	0.250000	0	0.180000	0.370000
AVPR1B	553	broad.mit.edu	37	1	206230924	206230924	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:206230924C>A	ENST00000367126.4	+	2	1522	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B			20			BRCA - Breast invasive adenocarcinoma(75;0.0312)	Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTGCGTCACCTTGCCTGCTG	0.652000																								0							SO:0001583	missense			ENST00000367126.4	0	1	hg19	CCDS30994.1	.	.	.	.	.	.	.	.	.	.	C	15.720000	2.917594	0.525460	.	.	ENSG00000198049	ENST00000367126	T	0.47177	0.85	5.600000	3.680000	0.422160	.	0.625252	0.13928	N	0.353117	T	0.40119	0.1104	L	0.50333	1.59	0.093100	N	1.000000	B	0.16396	0.017	B	0.19946	0.027	T	0.32798	-0.9893	10	0.49607	T	0.09	-0.6355	6.365900	0.214550	0.1629:0.6944:0.0:0.1426	.	353	P47901	V1BR_HUMAN	I	353	ENSP00000356094:L353I	ENSP00000356094:L353I	L	+	1	0	AVPR1B	204397547	0	0.058580	1.700000e-02	0.161240	5.280000e-01	0.346230	0.400000	0.209320	1.310000	0.450060	0.563000	0.778840	CTT		TCGA-HZ-8003-01A-21D-2201-08	AVPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087996.1	0	0	0	4	121	0	19	0	1.654263e-02	0	5	0	19	2		0	0	0	0	0	2	1	8.731115e-01	4	112	0	17	2		0	0	0	0	19	2	-7.244197	1	1	0	0		1	1	2	3	2.018291	0	0.160000	2	0.167328	0.460000	0.150000	1.000000	0.390000	0.521298	0.460000	0	0.270000	0.790000
KDM1A	23028	broad.mit.edu	37	1	23376993	23376993	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:23376993C>G	ENST00000356634.3	+	3	780	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	KDM1A_ENST00000542151.1_Missense_Mutation_p.L231V|KDM1A_ENST00000400181.4_Missense_Mutation_p.L231V|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A			23					GAAGGTTTTTCTTTTCATTAG	0.383000																								0							SO:0001583	missense			ENST00000356634.3	1	1	hg19	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	17.800000	3.478654	0.638490	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.60920	0.24;0.16;0.15	5.820000	4.910000	0.643300	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.64402	D	0.000001	T	0.76212	0.3956	M	0.86178	2.8	0.584320	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.79315	-0.1854	10	0.87932	D	0	-15.4498	9.981900	0.418190	0.0:0.8483:0.0:0.1517	.	231;211	O60341-2;O60341	.;KDM1A_HUMAN	V	211;231;231	ENSP00000349049:L211V;ENSP00000383042:L231V;ENSP00000439072:L231V	ENSP00000349049:L211V	L	+	1	0	KDM1A	23249580	1	0.714170	1	0.803570	9.950000e-01	0.863560	1.695000	0.377630	1.462000	0.479480	0.655000	0.942530	CTT		TCGA-HZ-8003-01A-21D-2201-08	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	0	0	0	17	728	0	65	1	6.112976e-01	10	78	0	65	2		0	0	0	0	0	2	1	9.999551e-01	16	708	0	65	2		0	0	0	0	65	2	-2.909329	1	0	0	0		1	1	2	3	2.022242	0	0.160000	2	0.167987	0.300000	0.170000	1.000000	0.290000	0.369537	0.300000	0	0.230000	0.410000
LPAR3	23566	broad.mit.edu	37	1	85279808	85279808	+	Silent	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr1:85279808G>A	ENST00000440886.1	-	2	821	c.783C>T	c.(781-783)ctC>ctT	p.L261L	LPAR3_ENST00000370611.3_Silent_p.L261L|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3			24					TCAGGCCGTCGAGGAGCAGAA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000440886.1	1	1	hg19	CCDS700.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	0	0	0	18	540	0	94	0	1.599338e-01	0	21	0	94	2		0	0	0	0	0	2	1	9.999784e-01	17	529	0	94	2		0	0	0	0	94	2	-2.852309	1	1	121412	3	34	1	1	2	3	2.014679	0	0.160000	2	0.166005	0.420000	0.250000	1.000000	0.400000	0.465258	0.420000	0	0.320000	0.550000
ZNF831	128611	broad.mit.edu	37	20	57768617	57768617	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr20:57768617C>T	ENST00000371030.2	+	1	2543	c.2543C>T	c.(2542-2544)aCg>aTg	p.T848M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				GGTGGGCCCACGCAGCCTGCC	0.637000																								0							SO:0001583	missense			ENST00000371030.2	0	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	6.842000	0.524657	0.130660	2.49E-4	0.0	ENSG00000124203	ENST00000371030	T	0.04654	3.58	4.910000	-9.810000	0.004870	.	2.099750	0.01863	N	0.036738	T	0.01835	0.0058	N	0.02539	-0.55	0.093100	N	1.000000	B	0.11235	0.004	B	0.04013	0.001	T	0.39941	-0.9589	10	0.31617	T	0.26	2.2937	6.154800	0.203320	0.0856:0.6705:0.0859:0.1581	.	848	Q5JPB2	ZN831_HUMAN	M	848	ENSP00000360069:T848M	ENSP00000360069:T848M	T	+	2	0	ZNF831	57202012	0	0.058580	0	0.037020	0	0.004340	-4.016000	0.003130	-2.912000	0.003070	-2.815000	0.001100	ACG		TCGA-HZ-8003-01A-21D-2201-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	0	8	448	0	76	0	1.263881e-03	0	3	0	76	2		0	0	0	0	0	2	1	9.886075e-01	8	439	0	76	2		0	0	0	0	76	2	-7.212852	1	1	120910	2	37	1	1	2	3	2.000935	0	0.160000	2	0.163347	0.230000	0.100000	1.000000	0.220000	0.272566	0.230000	0	0.160000	0.340000
CACNA1I	8911	broad.mit.edu	37	22	40075752	40075752	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:40075752C>G	ENST00000402142.3	+	33	5420	c.5420C>G	c.(5419-5421)tCt>tGt	p.S1807C	CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1772C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1772C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1807C|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1813C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1772C	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GACAGCGTCTCTTTAATCATC	0.632000																								0							SO:0001583	missense			ENST00000402142.3	1	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	21.600000	4.169998	0.784520	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98968	-5.26;-5.23;-5.14;-5.09;-5.28;-5.19	4.300000	4.300000	0.512180	.	5.708610	0.00397	N	0.000043	D	0.99211	0.9726	M	0.68952	2.095	0.525010	D	0.999956	D;D;D;D	0.89917	0.999;0.969;1.0;1.0	D;P;D;D	0.87578	0.995;0.708;0.998;0.996	D	0.94094	0.7356	10	0.72032	D	0.01	.	17.123300	0.867070	0.0:1.0:0.0:0.0	.	1772;1807;1772;1807	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	C	1807;1772;1807;1772;1813;1772	ENSP00000385019:S1807C;ENSP00000384093:S1772C;ENSP00000383887:S1807C;ENSP00000385680:S1772C;ENSP00000337829:S1813C;ENSP00000383028:S1772C	ENSP00000337829:S1813C	S	+	2	0	CACNA1I	38405698	1	0.714170	1	0.803570	7.960000e-01	0.449820	7.347000	0.793560	2.087000	0.629580	0.462000	0.415740	TCT		TCGA-HZ-8003-01A-21D-2201-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	1	0	0	5	144	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	9.352450e-01	5	141	0	24	2		0	0	0	0	24	2	-7.910604	1	1	0	0		1	1	2	3	2.016038	0	0.160000	2	0.166667	0.470000	0.170000	1.000000	0.400000	0.524391	0.470000	0	0.290000	0.760000
TUBGCP6	85378	broad.mit.edu	37	22	50664531	50664531	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr22:50664531T>C	ENST00000248846.5	-	9	1885	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.D594G|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6			45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GACGTATATGTCGTGGGCAAT	0.557000																								0							SO:0001583	missense			ENST00000248846.5	1	1	hg19	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	20.600000	4.010753	0.750460	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08807	3.05;3.05	5.040000	5.040000	0.676660	.	0.109872	0.64402	N	0.000010	T	0.26122	0.0637	L	0.61218	1.895	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.00802	-1.1560	10	0.62326	D	0.03	.	14.767400	0.696480	0.0:0.0:0.0:1.0	.	594;594	B2RWN4;Q96RT7	.;GCP6_HUMAN	G	594	ENSP00000248846:D594G;ENSP00000397387:D594G	ENSP00000248846:D594G	D	-	2	0	TUBGCP6	49006658	1	0.714170	9.910000e-01	0.477400	4.350000e-01	0.318060	7.905000	0.874160	1.906000	0.551800	0.379000	0.241790	GAC		TCGA-HZ-8003-01A-21D-2201-08	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	0	0	0	37	1275	0	188	0	3.103281e-01	0	39	0	188	2		0	0	0	0	0	2	1	1	37	1245	0	185	2		0	0	0	0	188	2	-3.356496	1	1	0	0		1	1	2	3	2.016038	0	0.160000	2	0.166667	0.360000	0.250000	1.000000	0.360000	0.414531	0.360000	0	0.300000	0.450000
FAM179A	165186	broad.mit.edu	37	2	29274886	29274886	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr2:29274886G>A	ENST00000379558.4	+	20	3338	c.2987G>A	c.(2986-2988)cGc>cAc	p.R996H	FAM179A_ENST00000403861.2_Missense_Mutation_p.R941H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A			26					GGAGGCAGCCGCAAGGCCACT	0.557000																								0							SO:0001583	missense			ENST00000379558.4	0	1	hg19	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	8.471000	0.857506	0.171060	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.09817	3.12;2.94	5.680000	-11.400000	0.000900	.	3.053280	0.00954	N	0.003001	T	0.02929	0.0087	N	0.02011	-0.69	0.093100	N	1.000000	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36065	-0.9763	10	0.30078	T	0.28	.	4.172000	0.103340	0.1668:0.2241:0.4866:0.1225	.	941;996	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	996;941	ENSP00000368876:R996H;ENSP00000384699:R941H	ENSP00000368876:R996H	R	+	2	0	FAM179A	29128390	0	0.058580	0	0.037020	1.200000e-02	0.079550	-1.423000	0.024500	-2.378000	0.005960	-1.904000	0.005260	CGC		TCGA-HZ-8003-01A-21D-2201-08	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	0	0	0	6	224	0	25	0	1.035963e-03	0	2	0	25	2		0	0	0	0	0	2	1	9.620967e-01	6	217	0	24	2		0	0	0	0	25	2	-3.560838	1	1	120824	2	34	1	1	2	3	2.011563	0	0.160000	2	0.165342	0.360000	0.140000	1.000000	0.330000	0.411699	0.360000	0	0.230000	0.550000
TOMM70A	9868	broad.mit.edu	37	3	100092471	100092471	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:100092471G>C	ENST00000284320.5	-	8	1694	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)			32					TCTTCAACTTGATCAAGGAGT	0.358000																								0							SO:0001583	missense			ENST00000284320.5	0	1	hg19	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	G	24.200000	4.509968	0.852820	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.53423	0.62	5.890000	5.890000	0.947940	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.049763	0.85682	D	0.000000	T	0.29223	0.0727	N	0.10645	0.015	0.807220	D	1.000000	B	0.26258	0.145	B	0.26693	0.072	T	0.20338	-1.0278	10	0.05620	T	0.96	-6.0465	20.257600	0.984300	0.0:0.0:1.0:0.0	.	416	O94826	TOM70_HUMAN	E	416;309	ENSP00000284320:Q416E	ENSP00000284320:Q416E	Q	-	1	0	TOMM70A	101575161	1	0.714170	1	0.803570	9.960000e-01	0.888480	8.907000	0.926340	2.783000	0.957690	0.655000	0.942530	CAA		TCGA-HZ-8003-01A-21D-2201-08	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2	0	0	0	9	526	0	45	1	5.258431e-01	4	94	0	45	2		0	0	0	0	0	2	1	9.934438e-01	9	511	0	45	2		0	0	0	0	45	2	-4.721776	1	1	0	0		1	0	1	1	1.990029	0	0.160000	2	0.154589	0.210000	0.100000	0.380000	0.210000	0.228924	0.210000	0	0.150000	0.300000
SLC12A8	84561	broad.mit.edu	37	3	124826478	124826478	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:124826478C>T	ENST00000393469.4	-	9	1601	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	SLC12A8_ENST00000430155.2_Missense_Mutation_p.E319K|SLC12A8_ENST00000314584.7_Missense_Mutation_p.E271K|SLC12A8_ENST00000423114.2_Missense_Mutation_p.E547K|SLC12A8_ENST00000469902.1_Missense_Mutation_p.E518K|SLC12A8_ENST00000465475.1_5'UTR	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8			16					TCAGAGATCTCGACAGGGAAA	0.552000																								0							SO:0001583	missense			ENST00000393469.4	0	1	hg19	CCDS43143.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.970000	1.501163	0.268610	0.0	9.49E-4	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902;ENST00000314584	D;D;D;D;T	0.88509	-1.89;-2.37;-2.39;-2.37;-1.45	4.850000	0.905000	0.193070	.	.	.	.	.	T	0.79747	0.4499	L	0.50333	1.59	0.093100	N	1.000000	P;B;B;P	0.44521	0.837;0.051;0.05;0.466	B;B;B;B	0.34418	0.182;0.007;0.003;0.029	T	0.68269	-0.5453	9	0.32370	T	0.25	.	3.209800	0.066780	0.1205:0.5474:0.1174:0.2147	.	271;547;518;319	A0AV02-4;A0AV02-2;A0AV02;A0AV02-3	.;.;S12A8_HUMAN;.	K	319;518;547;518;271	ENSP00000415713:E319K;ENSP00000377112:E518K;ENSP00000404243:E547K;ENSP00000418783:E518K;ENSP00000323632:E271K	ENSP00000323632:E271K	E	-	1	0	SLC12A8	126309168	0	0.058580	0	0.037020	0	0.004340	0.118000	0.156050	0.234000	0.211390	-0.181000	0.130520	GAG		TCGA-HZ-8003-01A-21D-2201-08	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	0	0	0	14	671	0	99	0	4.080279e-01	1	64	0	99	2		0	0	0	0	0	2	1	9.996984e-01	14	654	0	98	2		0	0	0	0	99	2	-2.617480	1	1	120994	189	56	1	0	1	1	1.990029	0	0.160000	2	0.154589	0.250000	0.140000	0.410000	0.250000	0.269017	0.250000	0	0.190000	0.330000
IFT122	55764	broad.mit.edu	37	3	129214429	129214429	+	Silent	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr3:129214429C>T	ENST00000348417.2	+	18	2264	c.2187C>T	c.(2185-2187)ctC>ctT	p.L729L	IFT122_ENST00000440957.2_Silent_p.L520L|IFT122_ENST00000349441.2_Silent_p.L618L|IFT122_ENST00000431818.2_Silent_p.L579L|IFT122_ENST00000347300.2_Silent_p.L670L|IFT122_ENST00000507564.1_Silent_p.L721L|IFT122_ENST00000504021.1_Silent_p.L605L|IFT122_ENST00000296266.3_Silent_p.L780L|IFT122_ENST00000513932.1_3'UTR	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122			52					ACACCGACCTCTGCATGTTTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000348417.2	1	1	hg19	CCDS3061.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	0	0	0	16	476	0	77	0	2.005059e-01	0	24	0	77	2		0	0	0	0	0	2	1	9.999179e-01	15	464	0	77	2		0	0	0	0	77	2	-14.589920	1	1	0	0		1	0	1	1	1.990029	0	0.160000	2	0.154589	0.400000	0.240000	0.620000	0.400000	0.422668	0.400000	0	0.310000	0.520000
FAM13A	10144	broad.mit.edu	37	4	89950680	89950680	+	Missense_Mutation	SNP	G	G	A	rs114435452	byFrequency	TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr4:89950680G>A	ENST00000264344.5	-	2	355	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	FAM13A_ENST00000509094.1_Missense_Mutation_p.R50W|FAM13A_ENST00000511976.1_De_novo_Start_InFrame|FAM13A_ENST00000515600.1_Missense_Mutation_p.R50W|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A			55					AGCCCCTGCCGTTCAAGTTCT	0.418000																								0							SO:0001583	missense			ENST00000264344.5	1	1	hg19	CCDS34029.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.850000	2.955573	0.532930	0.002724	0.0	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.120000	3.280000	0.376040	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.769691	0.11970	N	0.511820	T	0.42765	0.1217	M	0.68317	2.08	0.271300	N	0.961917	D;P	0.62365	0.991;0.482	P;B	0.44860	0.462;0.007	T	0.35943	-0.9768	9	.	.	.	.	7.720000	0.287270	0.085:0.0:0.7527:0.1623	.	50;50	Q6P521;O94988	.;FA13A_HUMAN	W	50;50;50;60	ENSP00000264344:R50W;ENSP00000426517:R50W;ENSP00000422345:R50W;ENSP00000421269:R60W	.	R	-	1	2	FAM13A	90169703	9.530000e-01	0.324960	2.500000e-01	0.242960	1.800000e-02	0.096640	2.839000	0.482070	1.323000	0.452630	0.655000	0.942530	CGG		TCGA-HZ-8003-01A-21D-2201-08	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1	0	0	0	26	1066	0	127	1	1.874882e-01	4	28	0	127	2		0	0	0	0	0	2	1	9.999998e-01	26	1024	0	123	2		0	0	0	0	127	2	-2.338131	0	1	121412	28	49	1	1	2	3	2.019137	0	0.160000	2	0.167328	0.300000	0.200000	1.000000	0.300000	0.371148	0.300000	0	0.240000	0.400000
TNFAIP8	25816	broad.mit.edu	37	5	118728611	118728611	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:118728611C>A	ENST00000503646.1	+	3	820	c.132C>A	c.(130-132)gaC>gaA	p.D44E	TNFAIP8_ENST00000504771.2_Missense_Mutation_p.D44E|TNFAIP8_ENST00000274456.6_Missense_Mutation_p.D34E|TNFAIP8_ENST00000513374.1_Missense_Mutation_p.D56E|TNFAIP8_ENST00000504642.1_Missense_Mutation_p.D46E|TNFAIP8_ENST00000415806.2_3'UTR			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	p.D44D(1)		1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)			CCTTAATAGACGACACAAGTA	0.463000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000503646.1	0	1	hg19	CCDS47258.1	.	.	.	.	.	.	.	.	.	.	C	19.810000	3.895834	0.726390	.	.	ENSG00000145779	ENST00000274456;ENST00000388882;ENST00000513374;ENST00000504771;ENST00000503646;ENST00000504642	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.800000	-11.600000	0.000590	.	0.000000	0.64402	D	0.000001	T	0.65302	0.2678	M	0.84846	2.72	0.807220	D	1.000000	D;D;P;D	0.71674	0.998;0.998;0.916;0.998	D;D;P;D	0.74674	0.983;0.984;0.86;0.984	D	0.87529	0.2451	10	0.87932	D	0	-7.2509	21.111100	0.999460	0.0:0.6774:0.0:0.3226	.	56;44;34;44	B7Z713;O95379;O95379-3;B3KUI2	.;TFIP8_HUMAN;.;.	E	34;12;56;44;44;46	ENSP00000274456:D34E;ENSP00000429432:D12E;ENSP00000427424:D56E;ENSP00000422245:D44E;ENSP00000421848:D44E;ENSP00000427160:D46E	ENSP00000274456:D34E	D	+	3	2	TNFAIP8	118756510	3.800000e-02	0.198960	5.800000e-02	0.195020	9.510000e-01	0.605550	-0.645000	0.054090	-2.668000	0.004150	-1.021000	0.024390	GAC		TCGA-HZ-8003-01A-21D-2201-08	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000371134.2	0	0	0	3	97	0	15	0	5.869944e-01	0	56	0	15	2		0	0	0	0	0	2		0	0	0	0	0	2		0	0	0	0	15	2	-6.074774	1	0	0	0		1	0	0	0	1.965978	0	0.160000	2	0.142157	0.410000	0.120000	0.910000	1.000000	0.448704	0.410000	0	0.230000	0.650000
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr5:33947401G>A	ENST00000296589.4	-	6	1381	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000382102.3_Missense_Mutation_p.T412M	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	p.T412M(1)		48					AATAAATCCCGTCCCCAGGCC	0.488000													Ovarian(31;380 859 8490 22203 49048)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000296589.4	1	1	hg19	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	29.200000	4.988904	0.931060	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.620000	5.620000	0.858410	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	L	0.39020	1.185	0.807220	D	1.000000	D;P	0.89917	1.0;0.622	D;P	0.85130	0.997;0.466	D	0.86327	0.1696	10	0.02654	T	1	-12.7534	19.644500	0.957710	0.0:0.0:1.0:0.0	.	412;412	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	M	412;353;412;237	ENSP00000296589:T412M;ENSP00000341014:T353M;ENSP00000371534:T412M;ENSP00000424010:T237M	ENSP00000296589:T412M	T	-	2	0	SLC45A2	33983158	1	0.714170	9.580000e-01	0.397560	9.640000e-01	0.639670	9.519000	0.980250	2.646000	0.897960	0.655000	0.942530	ACG		TCGA-HZ-8003-01A-21D-2201-08	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	1	0	0	39	915	0	168		0	0	0	0	168	2		0	0	0	0	0	2	1	1	37	878	0	167	2		0	0	0	0	168	2	-4.197817	1	1	121412	6	41	1	0	0	0	1.965978	0	0.160000	2	0.142157	0.490000	0.360000	0.660000	0.500000	0.508898	0.490000	0	0.420000	0.580000
LAMA4	3910	broad.mit.edu	37	6	112486440	112486440	+	Silent	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:112486440C>T	ENST00000230538.7	-	13	1987	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Silent_p.V523V|LAMA4_ENST00000424408.2_Silent_p.V523V|LAMA4_ENST00000389463.4_Silent_p.V523V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			GAGACATGTTCACCACTTCCA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000230538.7	0	1	hg19	CCDS43491.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	0	0	12	557	0	59	1	4.917015e-01	2	72	0	59	2		0	0	0	0	0	2	1	9.989747e-01	12	542	0	59	2		0	0	0	0	59	2	-2.979484	1	1	0	0		1	0	1	1	1.994194	0	0.160000	2	0.155270	0.260000	0.140000	0.430000	0.260000	0.280293	0.260000	0	0.190000	0.350000
TULP4	56995	broad.mit.edu	37	6	158924700	158924700	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:158924700G>C	ENST00000367097.3	+	13	5362	c.4005G>C	c.(4003-4005)aaG>aaC	p.K1335N	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4			49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)			AATTTGGAAAGAAGAACCGGA	0.537000																								0							SO:0001583	missense			ENST00000367097.3	1	1	hg19	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	17.640000	3.440322	0.630670	.	.	ENSG00000130338	ENST00000367097	T	0.70869	-0.52	5.700000	4.840000	0.625910	.	0.000000	0.85682	D	0.000000	T	0.76492	0.3995	M	0.65498	2.005	0.807220	D	1.000000	D	0.76494	0.999	D	0.83275	0.996	T	0.80020	-0.1557	10	0.66056	D	0.02	-27.8828	11.689900	0.515100	0.1417:0.0:0.8583:0.0	.	1335	Q9NRJ4	TULP4_HUMAN	N	1335	ENSP00000356064:K1335N	ENSP00000356064:K1335N	K	+	3	2	TULP4	158844688	1	0.714170	1	0.803570	9.980000e-01	0.957120	3.612000	0.541420	1.425000	0.472370	0.561000	0.740990	AAG		TCGA-HZ-8003-01A-21D-2201-08	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	0	0	0	13	395	0	68	1	1.273413e-01	2	16	0	68	2		0	0	0	0	0	2	1	9.995039e-01	13	389	0	66	2		0	0	0	0	68	2	-12.964460	1	1	0	0		1	0	1	1	1.994194	0	0.160000	2	0.155270	0.400000	0.220000	0.640000	0.390000	0.418791	0.400000	0	0.300000	0.520000
EZR	7430	broad.mit.edu	37	6	159197482	159197482	+	Silent	SNP	A	A	G			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:159197482A>G	ENST00000367075.3	-	8	921	c.753T>C	c.(751-753)aaT>aaC	p.N251N	EZR_ENST00000337147.7_Silent_p.N251N|EZR_ENST00000392177.4_Silent_p.N219N	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin		EZR/ROS1(4)	15		Breast(66;0.000776)|Ovarian(120;0.0303)			ACTTTTTGTCATTGAAAGAGA	0.378000			T	ROS1	NSCLC										Dom	yes		6	6q25.3	7430	ezrin		E	0							SO:0001819	synonymous_variant			ENST00000367075.3	1	1	hg19	CCDS5258.1																																																																																				TCGA-HZ-8003-01A-21D-2201-08	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	0	0	0	21	590	0	73	1	9.999879e-01	143	379	0	73	2		0	0	0	0	0	2	1	9.999974e-01	21	586	0	73	2		0	0	0	0	73	2	-3.969924	1	1	0	0		1	0	1	1	1.994194	0	0.160000	2	0.155270	0.420000	0.270000	0.620000	0.420000	0.442135	0.420000	0	0.340000	0.530000
TAP2	6891	broad.mit.edu	37	6	32800563	32800563	+	Silent	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:32800563C>T	ENST00000452392.2	-	6	1157	c.984G>A	c.(982-984)gcG>gcA	p.A328A	TAP2_ENST00000374899.4_Silent_p.A328A|TAP2_ENST00000374897.2_Silent_p.A328A|TAP2_ENST00000485701.1_5'Flank			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	p.A328A(1)						Vitamin E(DB00163)	CCACCTGCCCCGCCCTGGCCA	0.592000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000452392.2	0	1	hg19																																																																																					TCGA-HZ-8003-01A-21D-2201-08	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	0	0	1	8	525	0	85	1	6.131055e-01	32	97	0	85	2		0	0	0	0	0	2	1	9.875971e-01	8	504	0	85	2		0	0	0	0	85	2	-2.909339	1	0	117964	2	35	1	0	4	4	1.939375	1	0.160000	2	0.275862	0.220000	0.100000	0.410000	0.210000	0.242730	0.220000	0	0.150000	0.320000
MDN1	23195	broad.mit.edu	37	6	90448153	90448153	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:90448153G>A	ENST00000369393.3	-	33	4730	c.4615C>T	c.(4615-4617)Cgg>Tgg	p.R1539W	MDN1_ENST00000428876.1_Missense_Mutation_p.R1539W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)			218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)			TCTGTAAACCGGTTTCTTAAG	0.378000																								0							SO:0001583	missense			ENST00000369393.3	1	1	hg19	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	16.490000	3.138698	0.569360	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.73897	-0.79;-0.79	5.620000	3.620000	0.414860	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.063133	0.64402	D	0.000010	D	0.89238	0.6658	H	0.99573	4.635	0.584320	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90061	0.4156	10	0.87932	D	0	.	7.777400	0.290460	0.0:0.1127:0.487:0.4003	.	1539	Q9NU22	MDN1_HUMAN	W	1539	ENSP00000358400:R1539W;ENSP00000413970:R1539W	ENSP00000358400:R1539W	R	-	1	2	MDN1	90504874	1	0.714170	1	0.803570	9.960000e-01	0.888480	3.095000	0.502350	1.340000	0.455810	0.557000	0.710580	CGG		TCGA-HZ-8003-01A-21D-2201-08	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	0	13	502	0	75	0	7.042861e-02	0	16	0	75	2		0	0	0	0	0	2	1	9.994447e-01	13	488	0	75	2		0	0	0	0	75	2	-2.911896	1	1	0	0		1	0	1	1	1.994194	0	0.160000	2	0.155270	0.310000	0.170000	0.510000	0.310000	0.333047	0.310000	0	0.240000	0.420000
POU3F2	5454	broad.mit.edu	37	6	99283224	99283224	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr6:99283224G>A	ENST00000328345.5	+	1	645	c.475G>A	c.(475-477)Gct>Act	p.A159T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2			10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)			GCACCACGCCGCTAACCACCA	0.682000																								0							SO:0001583	missense			ENST00000328345.5	0	1	hg19	CCDS5040.1	.	.	.	.	.	.	.	.	.	.	G	7.400000	0.632659	0.143220	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	T	0.41400	1.0	3.240000	2.360000	0.292030	.	1.037200	0.07655	U	0.932722	T	0.04407	0.0121	N	0.02539	-0.55	0.309990	N	0.720528	B	0.10296	0.003	B	0.04013	0.001	T	0.37407	-0.9707	10	0.07030	T	0.85	.	4.651600	0.125980	0.1309:0.227:0.6422:0.0	.	159	P20265	PO3F2_HUMAN	T	159;140	ENSP00000329170:A159T	ENSP00000329170:A159T	A	+	1	0	POU3F2	99389945	1	0.714170	9.990000e-01	0.593770	6.830000e-01	0.398610	1.454000	0.351780	0.707000	0.319340	0.184000	0.171850	GCT		TCGA-HZ-8003-01A-21D-2201-08	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2	0	0	0	3	27	0	8		0	0	0	0	8	2	0	0	0	1	0	0	2	1	7.775120e-01	3	24	0	8	2		0	0	0	0	8	2	-9.626226	1	1	0	0		1	0	1	1	1.994194	0	0.160000	2	0.155270	0.990000	0.360000	1.000000	1.000000	0.890399	0.990000	1	0.680000	1.000000
C7orf10	0	broad.mit.edu	37	7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr7:40899974G>A	ENST00000335693.4	+	14	1257	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000309930.5_Missense_Mutation_p.G438R|C7orf10_ENST00000464028.1_3'UTR	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN				18					CCCGCTGCTCGGGCAGCACAC	0.567000																								0							SO:0001583	missense			ENST00000335693.4	1	1	hg19	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	G	25.400000	4.637058	0.877600	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.96396	-4.0;-1.11;-1.11	5.510000	5.510000	0.819320	CoA-transferase family III domain (1);	0.275863	0.34484	N	0.003935	D	0.98689	0.9560	M	0.93594	3.435	0.807220	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.99593	1.0976	10	0.87932	D	0	-10.9205	18.988400	0.927820	0.0:0.0:1.0:0.0	.	364;412;401	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	R	438;364;412	ENSP00000312054:G438R;ENSP00000385222:G364R;ENSP00000338475:G412R	ENSP00000312054:G438R	G	+	1	0	C7orf10	40866499	1	0.714170	9.880000e-01	0.462120	8.580000e-01	0.489760	6.455000	0.734970	2.575000	0.869000	0.655000	0.942530	GGG		TCGA-HZ-8003-01A-21D-2201-08	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1	0	0	0	28	1136	0	154	0	5.587676e-01	1	75	0	154	2		0	0	0	0	0	2	1	1	28	1109	0	152	2		0	0	0	0	154	2	-2.107909	0	1	121084	1	34	1	1	2	3	2.011485	0	0.160000	2	0.165342	0.300000	0.200000	1.000000	0.310000	0.355818	0.300000	0	0.250000	0.390000
TRPS1	7227	broad.mit.edu	37	8	116430660	116430660	+	Silent	SNP	A	A	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:116430660A>T	ENST00000220888.5	-	5	2841	c.2682T>A	c.(2680-2682)gtT>gtA	p.V894V	TRPS1_ENST00000520276.1_Silent_p.V898V|TRPS1_ENST00000519076.1_Silent_p.V648V|TRPS1_ENST00000395715.3_Silent_p.V907V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I			111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		TGGCACAAAAAACACCGGAGC	0.488000									Langer-Giedion syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	ENST00000220888.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	5.146000	0.212445	0.097570	.	.	ENSG00000104447	ENST00000518018	.	.	.	5.810000	3.300000	0.378230	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	T	0.51529	-0.8694	4	.	.	.	.	7.591900	0.280250	0.8057:0.0:0.0684:0.1259	.	.	.	.	I	19	.	.	F	-	1	0	TRPS1	116499836	1	0.714170	1	0.803570	9.980000e-01	0.957120	1.219000	0.324790	1.027000	0.397580	0.528000	0.532280	TTT		TCGA-HZ-8003-01A-21D-2201-08	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	0	0	0	30	835	0	129	0	2.437657e-02	0	7	0	129	2		0	0	0	0	0	2	1	1	29	822	0	128	2		0	0	0	0	129	2	-20.000000	1	1	0	0		1	1	2	3	2.019161	0	0.160000	2	0.167328	0.440000	0.300000	1.000000	0.440000	0.497316	0.440000	0	0.360000	0.570000
IMPAD1	54928	broad.mit.edu	37	8	57905955	57905955	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:57905955G>C	ENST00000262644.4	-	1	448	c.190C>G	c.(190-192)Cgc>Ggc	p.R64G		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1			7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)			AGCATCTCGCGCAAGTCCACG	0.741000																								0							SO:0001583	missense			ENST00000262644.4	1	1	hg19	CCDS6169.1	.	.	.	.	.	.	.	.	.	.	G	15.390000	2.819807	0.506330	.	.	ENSG00000104331	ENST00000262644	T	0.52983	0.64	5.050000	4.120000	0.482400	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	M	0.79011	2.435	0.807220	D	1.000000	D	0.76494	0.999	D	0.74023	0.982	T	0.61898	-0.6968	10	0.37606	T	0.19	-0.0018	6.972700	0.246580	0.0931:0.0:0.7402:0.1667	.	64	Q9NX62	IMPA3_HUMAN	G	64	ENSP00000262644:R64G	ENSP00000262644:R64G	R	-	1	0	IMPAD1	58068509	1	0.714170	1	0.803570	9.000000e-03	0.068530	3.892000	0.562350	1.023000	0.396540	-0.378000	0.069080	CGC		TCGA-HZ-8003-01A-21D-2201-08	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	1	0	0	7	185	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	9.781028e-01	7	177	0	36	2		0	0	0	0	36	2	-9.020743	1	1	119742	1	30	1	1	2	3	2.019161	0	0.160000	2	0.167328	0.500000	0.220000	1.000000	0.450000	0.549666	0.500000	0	0.330000	0.770000
TRPA1	8989	broad.mit.edu	37	8	72969219	72969219	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr8:72969219C>T	ENST00000262209.4	-	10	1334	c.1127G>A	c.(1126-1128)cGt>cAt	p.R376H		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1			98			Epithelial(68;0.223)	Menthol(DB00825)	CAGAAAATTACGTCCAAAATT	0.299000																								0							SO:0001583	missense			ENST00000262209.4	0	1	hg19	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	19.610000	3.860578	0.718340	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.54479	0.57;2.37	5.690000	5.690000	0.884480	Ankyrin repeat-containing domain (3);	0.048019	0.85682	D	0.000000	T	0.53126	0.1777	M	0.62723	1.935	0.584320	D	0.999997	B	0.18310	0.027	B	0.17098	0.017	T	0.47983	-0.9074	10	0.21014	T	0.42	-18.244	19.805100	0.965290	0.0:1.0:0.0:0.0	.	376	O75762	TRPA1_HUMAN	H	228;376	ENSP00000428151:R228H;ENSP00000262209:R376H	ENSP00000262209:R376H	R	-	2	0	TRPA1	73131773	1	0.714170	1	0.803570	9.890000e-01	0.773840	6.639000	0.743140	2.691000	0.918040	0.585000	0.799380	CGT		TCGA-HZ-8003-01A-21D-2201-08	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	0	0	0	7	248	0	18	0	0	0	1	0	18	2		0	0	0	0	0	2	1	9.796174e-01	7	243	0	18	2		0	0	0	0	18	2	-3.316146	1	1	121318	2	35	1	1	2	3	2.019161	0	0.160000	2	0.167328	0.380000	0.160000	1.000000	0.340000	0.439551	0.380000	0	0.250000	0.590000
WDR34	89891	broad.mit.edu	37	9	131403176	131403176	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chr9:131403176C>T	ENST00000372715.2	-	2	289	c.229G>A	c.(229-231)Gcc>Acc	p.A77T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34			9					CTGGCCTGGGCGGATGCACTG	0.652000																								0							SO:0001583	missense			ENST00000372715.2	1	1	hg19	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	C	6.909000	0.537276	0.131880	.	.	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T	0.61980	0.06	5.400000	-3.500000	0.047100	.	1.250360	0.05511	N	0.560229	T	0.42653	0.1212	L	0.37630	1.12	0.093100	N	1.000000	B;B	0.13594	0.003;0.008	B;B	0.06405	0.002;0.002	T	0.28650	-1.0037	10	0.06365	T	0.9	.	5.496400	0.168050	0.2163:0.3838:0.0:0.3999	.	62;77	A2A3F8;Q96EX3	.;WDR34_HUMAN	T	77;68;62	ENSP00000361800:A77T	ENSP00000361800:A77T	A	-	1	0	WDR34	130442997	0	0.058580	0	0.037020	1.000000e-02	0.072450	-0.250000	0.088300	-0.472000	0.068810	-0.140000	0.142260	GCC		TCGA-HZ-8003-01A-21D-2201-08	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	0	0	0	12	434	0	80	1	5.253209e-01	3	59	0	80	2		0	0	0	0	0	2	1	9.990527e-01	12	427	0	79	2		0	0	0	0	80	2	-3.065521	1	1	121404	1	28	1	0	1	1	1.989337	0	0.160000	2	0.154589	0.340000	0.180000	0.550000	0.330000	0.355993	0.340000	0	0.250000	0.450000
MAP7D3	79649	broad.mit.edu	37	X	135313711	135313711	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:135313711C>T	ENST00000316077.9	-	8	1625	c.1405G>A	c.(1405-1407)Gct>Act	p.A469T	MAP7D3_ENST00000370663.5_Missense_Mutation_p.A451T|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Missense_Mutation_p.A434T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3			44	Acute lymphoblastic leukemia(192;0.000127)				ACCTTTGGAGCGTCTCTCGCT	0.428000																								0							SO:0001583	missense			ENST00000316077.9	1	1	hg19	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	3.209000	-0.161936	0.065020	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04194	4.42;3.85;3.85;3.68	4.330000	-7.090000	0.015530	.	1.863520	0.03468	N	0.213251	T	0.02533	0.0077	N	0.22421	0.69	0.093100	N	1.000000	B;B;B;B	0.28971	0.079;0.128;0.079;0.229	B;B;B;B	0.15870	0.011;0.011;0.011;0.014	T	0.35968	-0.9767	10	0.35671	T	0.21	-3.1947	1.110900	0.017040	0.2367:0.3632:0.1659:0.2342	.	451;428;469;434	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	T	434;469;451;428	ENSP00000359695:A434T;ENSP00000318086:A469T;ENSP00000359697:A451T;ENSP00000359694:A428T	ENSP00000318086:A469T	A	-	1	0	MAP7D3	135141377	0	0.058580	0	0.037020	1.000000e-03	0.015030	-0.359000	0.076320	-1.469000	0.018900	-1.699000	0.007220	GCT		TCGA-HZ-8003-01A-21D-2201-08	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2	0	0	0	36	1096	0	133	0	1.059057e-01	0	17	0	133	2		0	0	0	0	0	2	1	1	34	1087	0	132	2		0	0	0	0	133	2	-2.823140	1	1	0	0		1	0	1	1			0.160000	2	0.160000	0.390000	0.280000	0.530000	0.400000	0.405947	0.390000	0	0.330000	0.470000
TFE3	7030	broad.mit.edu	37	X	48887764	48887764	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8003-01A-21D-2201-08	TCGA-HZ-8003-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f024977e-2d5d-4205-937d-3c832da05272	7601f464-a2b6-4fda-9887-9419efd30388	g.chrX:48887764G>A	ENST00000315869.7	-	10	1892	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	1					GAGGCAGCCCGCAGTGGGGAC	0.662000			T	SFPQ, ASPSCR1, PRCC, NONO, CLTC	papillary renal, alveolar soft part sarcoma, renal										Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0							SO:0001583	missense			ENST00000315869.7	0	1	hg19	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	15.840000	2.952187	0.532930	.	.	ENSG00000068323	ENST00000315869	T	0.16073	2.37	5.410000	3.530000	0.404190	.	0.217637	0.23213	U	0.050656	T	0.09818	0.0241	N	0.14661	0.345	0.414780	D	0.988141	B	0.18310	0.027	B	0.13407	0.009	T	0.09952	-1.0651	10	0.66056	D	0.02	-17.8225	7.768500	0.289930	0.0904:0.2819:0.6277:0.0	.	545	P19532	TFE3_HUMAN	W	545	ENSP00000314129:R545W	ENSP00000314129:R545W	R	-	1	2	TFE3	48774708	9.990000e-01	0.422020	9.990000e-01	0.593770	6.830000e-01	0.398610	3.116000	0.503990	1.058000	0.405300	0.509000	0.499470	CGG		TCGA-HZ-8003-01A-21D-2201-08	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	0	0	0	5	271	0	53	0	3.525805e-01	0	58	0	53	2		0	0	0	0	0	2	1	9.212167e-01	5	247	0	52	2		0	0	0	0	53	2	-4.012331	1	0	0	0		1	0	1	1			0.160000	2	0.160000	0.240000	0.090000	0.490000	0.220000	0.264656	0.240000	0	0.150000	0.360000
