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
RASGEF1A	221002	broad.mit.edu	37	10	43701485	43701485	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:43701485C>T	ENST00000395809.1	-	2	2586	c.80G>A	c.(79-81)cGt>cAt	p.R27H	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R35H|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R27H|RASGEF1A_ENST00000472864.1_5'Flank			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	p.R27H(1)		11					CCCGCCTCCACGCTCCCCCAT	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000395809.1	0	1	hg19	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896724	0.52121	.	.	ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809	T;T;T	0.71579	-0.56;-0.58;-0.58	5.49	3.63	0.41609	.	0.397928	0.18488	N	0.139733	T	0.54775	0.1879	N	0.22421	0.69	0.26555	N	0.973839	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.49606	-0.8922	10	0.45353	T	0.12	.	9.9083	0.41390	0.0:0.7883:0.0:0.2117	.	27;35	Q8N9B8;Q8N9B8-2	RGF1A_HUMAN;.	H	35;27;27	ENSP00000363583:R35H;ENSP00000379155:R27H;ENSP00000379154:R27H	ENSP00000363583:R35H	R	-	2	0	RASGEF1A	43021491	0.769000	0.28531	0.691000	0.30163	0.786000	0.44442	1.601000	0.36773	1.344000	0.45657	-0.119000	0.15052	CGT		TCGA-3E-AAAY-01A-11D-A38G-08	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	0	0	1	6	50	0	20	0	4.418469e-02	0	3	0	20	2		0	0	0	0	0	2	1	0.963922	5	49	0	18	2		0	0	0	0	20	2	-12.258250	1	1	121094	9	38	1	0	1	1	2.001307	0	0.110000	1.860000	0.101600	0.990000	0.700000	1.000000	1.000000	0.977917	0.990000	1	0.990000	1.000000
RTKN2	219790	broad.mit.edu	37	10	64005797	64005797	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr10:64005797T>C	ENST00000373789.3	-	3	373	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E	RTKN2_ENST00000395260.3_Missense_Mutation_p.K93E|RTKN2_ENST00000395265.1_Missense_Mutation_p.K93E	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2			21	Prostate(12;0.0297)|all_hematologic(501;0.215)				GTTCGTTCTTTACTTTCAAAT	0.279000																								0							SO:0001583	missense			ENST00000373789.3	1	1	hg19	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	4.450	0.083293	0.08533	.	.	ENSG00000182010	ENST00000395265;ENST00000373789;ENST00000395260	T;T;T	0.41758	1.6;1.6;0.99	5.38	1.67	0.24075	.	0.457220	0.27932	N	0.017279	T	0.28333	0.0700	L	0.48362	1.52	0.19300	N	0.999979	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.20042	-1.0287	10	0.13853	T	0.58	-0.4111	5.9418	0.19198	0.0:0.1462:0.1373:0.7165	.	93;93	Q8IZC4-3;Q8IZC4	.;RTKN2_HUMAN	E	93	ENSP00000378682:K93E;ENSP00000362894:K93E;ENSP00000378678:K93E	ENSP00000362894:K93E	K	-	1	0	RTKN2	63675803	0.949000	0.32298	0.294000	0.24946	0.859000	0.49053	1.602000	0.36783	0.337000	0.23665	0.528000	0.53228	AAA		TCGA-3E-AAAY-01A-11D-A38G-08	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	0	0	0	7	205	0	119	1	9.923676e-02	6	8	0	119	2		0	0	0	0	0	2	1	0.980136	7	202	0	119	2		0	0	0	0	119	2	-9.121509	1	1	0	0		1	0	1	1	2.001307	0	0.110000	1.860000	0.101600	0.610000	0.270000	1.000000	1.000000	0.636064	0.610000	0	0.420000	0.850000
ROBO3	64221	broad.mit.edu	37	11	124743218	124743218	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:124743218G>A	ENST00000397801.1	+	10	1741	c.1549G>A	c.(1549-1551)Ggc>Agc	p.G517S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G495S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)			35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)			GATGGACATGGGCTTCTACAG	0.542000																								0							SO:0001583	missense			ENST00000397801.1	0	1	hg19	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186181	0.78789	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.60171	0.21;0.21	4.89	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.197564	0.25478	N	0.030400	D	0.84696	0.5529	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90158	0.4226	10	0.87932	D	0	.	16.9991	0.86377	0.0:0.0:1.0:0.0	.	517	Q96MS0	ROBO3_HUMAN	S	517;495	ENSP00000380903:G517S;ENSP00000441797:G495S	ENSP00000380903:G517S	G	+	1	0	ROBO3	124248428	1.000000	0.71417	0.107000	0.21349	0.762000	0.43233	8.485000	0.90448	2.548000	0.85928	0.455000	0.32223	GGC		TCGA-3E-AAAY-01A-11D-A38G-08	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	0	0	0	3	59	0	25		0	0	0	0	25	2		0	0	0	0	0	2	1	0.802062	3	57	0	25	2		0	0	0	0	25	2	-4.236343	1	1	0	0		1	0	1	1	2.007625	0	0.110000	1.860000	0.103094	0.880000	0.270000	1.000000	1.000000	0.800659	0.880000	1	0.510000	1.000000
PIK3C2A	5286	broad.mit.edu	37	11	17156533	17156533	+	Silent	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:17156533T>C	ENST00000265970.7	-	10	1940	c.1941A>G	c.(1939-1941)caA>caG	p.Q647Q	PIK3C2A_ENST00000540361.1_Silent_p.Q267Q|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha			58					CTGCAGTTAATTGGTTTATGC	0.373000																								0							SO:0001819	synonymous_variant			ENST00000265970.7	1	1	hg19	CCDS7824.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	1	0	0	31	425	0	191	0	4.979723e-03	0	2	0	191	2		0	0	0	0	0	2	1	1.000000	31	418	0	191	2		0	0	0	0	191	2	-8.146276	1	1	121412	151	54	1	1	2	3	2.018697	0	0.110000	1.860000	0.115835	0.990000	0.870000	1.000000	1.000000	0.991727	0.990000	1	0.990000	1.000000
IGF2	3481	broad.mit.edu	37	11	2154783	2154783	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2154783G>A	ENST00000416167.2	-	3	1436	c.270C>T	c.(268-270)tcC>tcT	p.S90S	IGF2_ENST00000381389.1_Silent_p.S90S|IGF2_ENST00000381395.1_Silent_p.S90S|IGF2_ENST00000381406.4_Silent_p.S93S|IGF2_ENST00000300632.5_Silent_p.S90S|IGF2_ENST00000418738.2_Silent_p.S90S|IGF2_ENST00000434045.2_Silent_p.S146S|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381392.1_Silent_p.S93S			P01344	IGF2_HUMAN	insulin-like growth factor 2			6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)		CGTCCCTCTCGGACTTGGCGG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000416167.2	1	1	hg19	CCDS7728.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	1	0	0	10	96	0	55	0	2.722885e-01	0	10	0	55	2		0	0	0	0	0	2	1	0.996416	9	91	0	52	2		0	0	0	0	55	2	-15.704970	1	1	121334	10	37	1	1	2	3	2.018697	0	0.110000	1.860000	0.115835	0.990000	0.880000	1.000000	1.000000	0.993015	0.990000	1	0.990000	1.000000
INS-IGF2	723961	broad.mit.edu	37	11	2182109	2182109	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C|INS-IGF2_ENST00000481781.1_5'Flank	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough			5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)		GGTGTGAGCCGCACAGGTGTT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000397270.1	0	1	hg19	CCDS41598.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	0	0	0	7	194	0	95	1	1	4	7436	0	95	2		0	0	0	0	0	2	0	0.387947	8	191	1	93	9		0	0	0	0	95	2	-3.066688	1	1	121154	3	34	1	1	2	3	2.018697	0	0.110000	1.860000	0.115835	0.690000	0.300000	1.000000	1.000000	0.708609	0.690000	0	0.460000	1.000000
ABTB2	25841	broad.mit.edu	37	11	34218927	34218927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:34218927C>A	ENST00000435224.2	-	3	1613	c.1189G>T	c.(1189-1191)Gag>Tag	p.E397*	ABTB2_ENST00000298992.2_Nonsense_Mutation_p.E211*|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2			25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)			TCCATGGACTCCATCTGTGGA	0.632000																								0							SO:0001587	stop_gained			ENST00000435224.2	0	1	hg19	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	C	43	10.292513	0.99377	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6082	19.6195	0.95650	0.0:1.0:0.0:0.0	.	.	.	.	X	397;211	.	ENSP00000298992:E211X	E	-	1	0	ABTB2	34175503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.633000	0.89246	0.561000	0.74099	GAG		TCGA-3E-AAAY-01A-11D-A38G-08	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	0	10	226	0	113	0	5.233446e-02	0	8	0	113	2		0	0	0	0	0	2	1	0.996575	9	220	0	112	2		0	0	0	0	113	2	-11.684580	1	1	0	0		1	1	2	3	2.018697	0	0.110000	1.860000	0.115835	0.820000	0.410000	1.000000	1.000000	0.804304	0.820000	0	0.590000	1.000000
FAT3	120114	broad.mit.edu	37	11	92577822	92577822	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr11:92577822G>A	ENST00000298047.6	+	18	11306	c.11289G>A	c.(11287-11289)gcG>gcA	p.A3763A	FAT3_ENST00000525166.1_Silent_p.A3613A|FAT3_ENST00000533797.1_Silent_p.A98A|FAT3_ENST00000409404.2_Silent_p.A3763A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3			85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			ATTCCCACGCGCTCATGACCT	0.532000										TCGA Ovarian(4;0.039)														0							SO:0001819	synonymous_variant			ENST00000298047.6	0	1	hg19																																																																																					TCGA-3E-AAAY-01A-11D-A38G-08	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	4	62	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	0.885132	4	60	0	22	2		0	0	0	0	22	2	-4.311882	1	1	121156	1	34	1	0	1	1	2.007625	0	0.110000	1.860000	0.103094	0.990000	0.380000	1.000000	1.000000	0.877956	0.990000	1	0.660000	1.000000
SRRM4	84530	broad.mit.edu	37	12	119568524	119568524	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:119568524G>A	ENST00000267260.4	+	8	1044	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4			24					AAGTCCCGCCGAAGGCACTCC	0.657000																								0							SO:0001583	missense			ENST00000267260.4	0	1	hg19	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360937	0.61403	.	.	ENSG00000139767	ENST00000267260	T	0.24723	1.84	5.07	4.18	0.49190	.	0.282843	0.28403	N	0.015470	T	0.25344	0.0616	L	0.50333	1.59	0.31952	N	0.609555	P	0.48998	0.918	B	0.44278	0.445	T	0.23119	-1.0197	10	0.25751	T	0.34	-2.736	10.6863	0.45846	0.0886:0.0:0.9114:0.0	.	219	A7MD48	SRRM4_HUMAN	Q	219	ENSP00000267260:R219Q	ENSP00000267260:R219Q	R	+	2	0	SRRM4	118052907	0.951000	0.32395	0.966000	0.40874	0.950000	0.60333	1.852000	0.39348	1.135000	0.42183	0.448000	0.29417	CGA		TCGA-3E-AAAY-01A-11D-A38G-08	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	0	0	0	4	74	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	0.879395	3	71	0	41	2		0	0	0	0	42	2	-8.032464	1	0	120776	3	30	1	0	1	1	2.008853	0	0.110000	1.860000	0.103094	0.920000	0.330000	1.000000	1.000000	0.831459	0.920000	1	0.580000	1.000000
HPD	3242	broad.mit.edu	37	12	122292622	122292622	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:122292622G>A	ENST00000289004.4	-	7	436	c.401C>T	c.(400-402)gCt>gTt	p.A134V	HPD_ENST00000543163.1_Missense_Mutation_p.A95V|RP11-7M8.2_ENST00000543848.1_RNA	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase			18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			Nitisinone(DB00348)	CTGCAGCACAGCAAACTTCAC	0.597000																								0							SO:0001583	missense			ENST00000289004.4	0	1	hg19	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665066	0.67700	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.65732	-0.17;-0.17	5.29	4.38	0.52667	.	0.301114	0.35151	N	0.003416	T	0.71702	0.3371	M	0.90425	3.115	0.80722	D	1	B	0.33280	0.405	B	0.37144	0.242	T	0.76599	-0.2900	10	0.87932	D	0	-7.5669	14.9723	0.71243	0.0:0.1435:0.8565:0.0	.	134	P32754	HPPD_HUMAN	V	134;131;95	ENSP00000289004:A134V;ENSP00000441677:A95V	ENSP00000289004:A134V	A	-	2	0	HPD	120777005	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	9.210000	0.95106	1.203000	0.43233	0.467000	0.42956	GCT		TCGA-3E-AAAY-01A-11D-A38G-08	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	0	0	0	7	529	1	225	0	3.531803e-03	0	6	1	225	2		0	0	0	0	0	2	0	0.306196	7	525	1	224	10		0	0	0	1	225	2	-2.016036	0	1	0	0		1	0	1	1	2.008853	0	0.110000	1.860000	0.103094	0.240000	0.100000	0.450000	0.230000	0.263934	0.240000	0	0.160000	0.350000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-3E-AAAY-01A-11D-A38G-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	9	271	0	123	1	1.846200e-02	2	4	0	123	2	1	9.930780e-01	11	256	0	212	2	1	0.993740	9	264	0	122	2	1	1	581	7441	0	123	2	-3.791404	1	1	121404	2	44	1	0	1	1	2.008853	0	0.110000	1.860000	0.103094	0.590000	0.290000	1.000000	1.000000	0.616008	0.590000	0	0.420000	0.800000
KCNH3	23416	broad.mit.edu	37	12	49950199	49950199	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr12:49950199T>C	ENST00000257981.6	+	13	2775	c.2515T>C	c.(2515-2517)Ttc>Ctc	p.F839L	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3			36					CCAGCCCAAGTTCTCTTTCCG	0.622000																								0							SO:0001583	missense			ENST00000257981.6	1	1	hg19	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	T	32	5.153821	0.94645	.	.	ENSG00000135519	ENST00000257981	D	0.99239	-5.61	6.04	6.04	0.98038	.	0.000000	0.49305	D	0.000159	D	0.97885	0.9305	N	0.08118	0	0.39148	D	0.962164	P	0.49447	0.924	P	0.57776	0.827	D	0.98971	1.0801	10	0.44086	T	0.13	.	12.9803	0.58559	0.0:0.0:0.0:1.0	.	839	Q9ULD8	KCNH3_HUMAN	L	839	ENSP00000257981:F839L	ENSP00000257981:F839L	F	+	1	0	KCNH3	48236466	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.896000	0.63222	2.317000	0.78254	0.460000	0.39030	TTC		TCGA-3E-AAAY-01A-11D-A38G-08	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	0	0	0	12	299	0	141	0	1.682052e-02	0	5	0	141	2		0	0	0	0	0	2	1	0.998999	12	290	0	137	2		0	0	0	0	141	2	-13.217620	1	1	0	0		1	0	1	1	2.008853	0	0.110000	1.860000	0.103094	0.700000	0.380000	1.000000	1.000000	0.717593	0.700000	0	0.520000	0.910000
IPO5	3843	broad.mit.edu	37	13	98671972	98671972	+	Missense_Mutation	SNP	G	G	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr13:98671972G>T	ENST00000490680.1	+	24	3039	c.2974G>T	c.(2974-2976)Gtc>Ttc	p.V992F	IPO5_ENST00000539640.1_Missense_Mutation_p.V867F|IPO5_ENST00000261574.5_Missense_Mutation_p.V1010F			O00410	IPO5_HUMAN	importin 5			27					CGTTGAAGAGGTCCTTCCACA	0.413000																								0							SO:0001583	missense			ENST00000490680.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.176764|2.176764	0.38413|0.38413	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.16073	.|2.39;2.39;2.39;2.37	5.95|5.95	1.82|1.82	0.25136|0.25136	.|.	.|0.289846	.|0.38959	.|N	.|0.001514	T|T	0.29321|0.29321	0.0730|0.0730	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999997|0.999997	.|P	.|0.36048	.|0.534	.|B	.|0.43916	.|0.436	T|T	0.17349|0.17349	-1.0372|-1.0372	5|10	.|0.87932	.|D	.|0	-19.4383|-19.4383	11.6613|11.6613	0.51347|0.51347	0.2788:0.0:0.7212:0.0|0.2788:0.0:0.7212:0.0	.|.	.|1010	.|O00410-3	.|.	S|F	993|1010;992;992;867	.|ENSP00000261574:V1010F;ENSP00000350219:V992F;ENSP00000418393:V992F;ENSP00000445126:V867F	.|ENSP00000261574:V1010F	R|V	+|+	3|1	2|0	IPO5|IPO5	97469973|97469973	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.547000|0.547000	0.35210|0.35210	2.700000|2.700000	0.47085|0.47085	0.426000|0.426000	0.26116|0.26116	-0.145000|-0.145000	0.13849|0.13849	AGG|GTC		TCGA-3E-AAAY-01A-11D-A38G-08	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	1	0	1	32	424	0	197	1	9.994488e-01	24	128	0	197	2		0	0	0	0	0	2	1	1.000000	32	417	0	197	2		0	0	0	0	197	2	-20.000000	1	1	0	0		1	1	2	3	2.054353	0	0.110000	1.860000	0.123498	0.990000	0.920000	1.000000	1.000000	0.995629	0.990000	1	0.990000	1.000000
VPS13C	54832	broad.mit.edu	37	15	62283987	62283987	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr15:62283987C>T	ENST00000261517.5	-	17	1441	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	VPS13C_ENST00000395896.4_Silent_p.G456G|VPS13C_ENST00000395898.3_Silent_p.G413G|VPS13C_ENST00000249837.3_Silent_p.G413G	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)	p.G456G(1)		117					TTAATTTTTGCCCAGACCGAA	0.383000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000261517.5	0	1	hg19	CCDS32257.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	0	0	6	508	0	272		0	0	0	0	272	2		0	0	0	0	0	2	1	0.961595	6	493	0	267	2		0	0	0	0	272	2	-1.761338	0	1	121412	10	43	1	1	2	3	2.015703	0	0.110000	1.860000	0.114868	0.230000	0.090000	1.000000	0.210000	0.305435	0.230000	0	0.150000	0.380000
MAZ	4150	broad.mit.edu	37	16	29819148	29819148	+	Splice_Site	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr16:29819148C>T	ENST00000322945.6	+	2	1207	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	MAZ_ENST00000562337.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_5'Flank|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568544.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Splice_Site_p.R325W|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000569978.1_5'Flank|MAZ_ENST00000219782.6_Splice_Site_p.R348W	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)			10					GAGCTTCTCCCGGTGTGCACG	0.701000													Colon(72;875 1167 15364 30899 37091)											0							SO:0001630	splice_region_variant			ENST00000322945.6	1	0	hg19	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.603964	0.66445	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782;ENST00000544343	T;T;T	0.58210	3.17;3.17;0.35	2.69	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.64907	0.2641	L	0.60067	1.865	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.951;1.0	D;D;P;D	0.91635	0.996;0.999;0.818;0.998	T	0.64050	-0.6498	10	0.38643	T	0.18	-5.0701	11.6094	0.51052	0.0:1.0:0.0:0.0	.	325;113;348;348	C6G496;Q59GP8;P56270;G5E927	.;.;MAZ_HUMAN;.	W	325;348;348;123	ENSP00000443956:R325W;ENSP00000313362:R348W;ENSP00000219782:R348W	ENSP00000219782:R348W	R	+	1	2	MAZ	29726649	0.772000	0.28567	1.000000	0.80357	0.693000	0.40251	0.202000	0.17295	1.459000	0.47892	0.435000	0.28638	CGG		TCGA-3E-AAAY-01A-11D-A38G-08	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	1	0	0	15	187	0	79	1	9.999997e-01	73	313	0	79	2		0	0	0	0	0	2	1	0.999878	15	184	0	78	2		0	0	0	0	79	2	-2.879664	1	1	0	0		1	0	1	1	2.006578	0	0.110000	1.860000	0.103094	0.990000	0.780000	1.000000	1.000000	0.982998	0.990000	1	0.990000	1.000000
COL1A1	1277	broad.mit.edu	37	17	48273541	48273541	+	Missense_Mutation	SNP	C	C	T	rs72645356		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:48273541C>T	ENST00000225964.5	-	15	1095	c.977G>A	c.(976-978)gGt>gAt	p.G326D		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1		COL1A1/PDGFB(429)	71				Collagenase(DB00048)	ACCAGTAGCACCATCATTTCC	0.632000			T	PDGFB, USP6	dermatofibrosarcoma protuberans, aneurysmal bone cyst 		Osteogenesis imperfecta								Dom	yes		17	17q21.31-q22	1277	collagen, type I, alpha 1	yes	M	0		GRCh37	CM070721	COL1A1	M	rs72645356	SO:0001583	missense			ENST00000225964.5	1	1	hg19	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334954	0.81801	.	.	ENSG00000108821	ENST00000225964	D	0.99619	-6.28	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99130	4.44	0.80722	D	1	D	0.76494	0.999	D	0.97110	1.0	D	0.96436	0.9323	10	0.87932	D	0	.	17.3045	0.87191	0.0:1.0:0.0:0.0	.	326	P02452	CO1A1_HUMAN	D	326	ENSP00000225964:G326D	ENSP00000225964:G326D	G	-	2	0	COL1A1	45628540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.737000	0.84957	2.382000	0.81193	0.650000	0.86243	GGT		TCGA-3E-AAAY-01A-11D-A38G-08	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2	1	0	0	9	119	0	60	1	1	5	2133	0	60	2		0	0	0	0	0	2	1	0.994565	9	118	0	60	2		0	0	0	0	60	2	-13.394600	1	1	0	0		1	1	2	3	2.080272	0	0.110000	1.860000	0.128690	0.990000	0.690000	1.000000	1.000000	0.974299	0.990000	1	0.990000	1.000000
ACE	1636	broad.mit.edu	37	17	61558987	61558987	+	Missense_Mutation	SNP	T	T	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:61558987T>C	ENST00000290866.4	+	7	1030	c.1006T>C	c.(1006-1008)Tcc>Ccc	p.S336P	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S336P|ACE_ENST00000538928.1_Missense_Mutation_p.S336P	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme			51				Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGGAGCTCTCCCCCATGCC	0.657000																								0							SO:0001583	missense			ENST00000290866.4	0	1	hg19	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	t	3.965	-0.009611	0.07727	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.32023	1.47;1.47;1.47	4.48	-4.34	0.03666	.	1.422290	0.04337	N	0.353487	T	0.12646	0.0307	N	0.04787	-0.16	0.09310	N	1	P;B;B	0.44006	0.824;0.283;0.008	B;B;B	0.33799	0.17;0.111;0.022	T	0.22800	-1.0206	10	0.30854	T	0.27	-0.4851	10.3367	0.43854	0.0:0.6211:0.1276:0.2513	.	336;336;336	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	P	336	ENSP00000439591:S336P;ENSP00000290866:S336P;ENSP00000397593:S336P	ENSP00000290866:S336P	S	+	1	0	ACE	58912719	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.457000	0.06745	-0.775000	0.04584	-0.360000	0.07572	TCC		TCGA-3E-AAAY-01A-11D-A38G-08	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2	0	0	0	4	120	0	56	0	2.888618e-01	0	27	0	56	2		0	0	0	0	0	2	1	0.887743	4	118	0	55	2		0	0	0	0	56	2	-6.789107	1	1	0	0		1	0	1	1	1.937262	0	0.110000	1.860000	0.058201	0.530000	0.190000	0.940000	0.500000	0.556357	0.530000	0	0.330000	0.770000
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr17:7577058C>A	ENST00000269305.4	-	8	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TGGTGAGGCTCCCCTTTCTTG	0.567000		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	87	Substitution - Nonsense(46)|Deletion - Frameshift(20)|Whole gene deletion(8)|Substitution - Missense(5)|Insertion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex - compound substitution(1)						SO:0001587	stop_gained	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	0	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130179	0.94473	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	4.29	0.51040	.	0.702099	0.13430	N	0.388474	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.6918	13.5106	0.61511	0.0:0.8337:0.1663:0.0	.	.	.	.	X	294;294;294;294;294;283;162	.	ENSP00000269305:E294X	E	-	1	0	TP53	7517783	0.019000	0.18553	0.006000	0.13384	0.253000	0.25986	1.700000	0.37815	1.441000	0.47550	0.561000	0.74099	GAG		TCGA-3E-AAAY-01A-11D-A38G-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	18	159	0	81	0	8.854256e-01	1	35	0	81	2	1	1	77	759	0	749	2	1	0.999984	18	155	0	81	2		0	0	0	0	81	2	-20.000000	1	1	0	0		1	0	1	1	1.947990	0	0.110000	1.860000	0.058201	0.930000	0.710000	1.000000	0.990000	0.915232	0.930000	1	0.830000	0.990000
ST8SIA5	29906	broad.mit.edu	37	18	44268880	44268880	+	Missense_Mutation	SNP	G	G	C	rs151163620		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr18:44268880G>C	ENST00000315087.7	-	4	974	c.314C>G	c.(313-315)tCt>tGt	p.S105C	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S141C|ST8SIA5_ENST00000590497.1_Intron|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S74C	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5			22					GGACAGAGTAGACCTGCCAGG	0.587000																								0							SO:0001583	missense			ENST00000315087.7	1	1	hg19	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120457	0.77323	.	.	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.48201	0.83;0.82;1.44	5.48	5.48	0.80851	.	0.108387	0.64402	D	0.000004	T	0.53867	0.1823	L	0.43152	1.355	0.50313	D	0.999867	P;P;P	0.52577	0.797;0.954;0.832	P;P;P	0.50440	0.641;0.57;0.625	T	0.56306	-0.8001	10	0.66056	D	0.02	.	19.345	0.94359	0.0:0.0:1.0:0.0	.	74;141;105	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	C	105;141;74	ENSP00000321343:S105C;ENSP00000445492:S141C;ENSP00000443683:S74C	ENSP00000321343:S105C	S	-	2	0	ST8SIA5	42522878	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.746000	0.74866	2.578000	0.87016	0.555000	0.69702	TCT		TCGA-3E-AAAY-01A-11D-A38G-08	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	0	0	0	6	170	0	73	0	0	0	1	0	73	2		0	0	0	0	0	2	1	0.961220	6	163	0	70	2		0	0	0	0	73	2	-8.448689	1	1	0	0		1	0	0	0	1.922669	0	0.110000	1.860000	0.061478	0.570000	0.240000	0.970000	1.000000	0.597418	0.570000	0	0.390000	0.800000
ABHD8	79575	broad.mit.edu	37	19	17412369	17412369	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:17412369G>A	ENST00000247706.3	-	2	296	c.57C>T	c.(55-57)aaC>aaT	p.N19N	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	p.N19N(1)		9					GCCCCACGGCGTTGGGGGGCG	0.652000													Ovarian(156;1368 2543 15275 41187)											1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000247706.3	1	1	hg19	CCDS12355.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	1	0	0	12	109	0	68	1	7.953371e-01	3	26	0	68	2		0	0	0	0	0	2	1	0.999112	12	105	0	68	2		0	0	0	0	68	2	-18.323130	1	1	121056	1	30	1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.990000	0.990000	1.000000	1.000000	0.997195	0.990000	1	0.990000	1.000000
PDE4C	5143	broad.mit.edu	37	19	18331091	18331091	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:18331091G>A	ENST00000355502.3	-	11	1618	c.747C>T	c.(745-747)tcC>tcT	p.S249S	PDE4C_ENST00000262805.12_Silent_p.S217S|PDE4C_ENST00000597297.1_Silent_p.S19S|PDE4C_ENST00000447275.3_Silent_p.S143S|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Silent_p.S249S|PDE4C_ENST00000598111.2_Silent_p.S19S|PDE4C_ENST00000594465.3_Silent_p.S249S|PDE4C_ENST00000539010.1_Silent_p.S18S			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific			33				Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GGCTGGTTTCGGACAGGTGGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000355502.3	0	1	hg19	CCDS12373.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1	0	0	0	7	625	0	268	0	0	0	1	0	268	2		0	0	0	0	0	2	1	0.978839	8	610	0	262	2		0	0	0	0	268	2	-2.172914	0	1	121412	9	44	1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.230000	0.090000	1.000000	0.200000	0.341232	0.230000	0	0.150000	0.430000
SIGLEC7	27036	broad.mit.edu	37	19	51647799	51647799	+	Silent	SNP	C	C	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:51647799C>G	ENST00000317643.6	+	2	639	c.570C>G	c.(568-570)tcC>tcG	p.S190S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7			29		all_neural(266;0.0199)			CCTCTGTGTCCCCCCTGCACC	0.662000																								0							SO:0001819	synonymous_variant			ENST00000317643.6	1	1	hg19	CCDS12826.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	1	0	0	20	377	0	167	0	8.352146e-03	0	3	0	167	2		0	0	0	0	0	2	1	0.999995	20	373	0	164	2		0	0	0	0	167	2	-3.302928	1	1	0	0		1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.970000	0.590000	1.000000	1.000000	0.906669	0.970000	1	0.760000	1.000000
ZNF613	79898	broad.mit.edu	37	19	52448449	52448449	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:52448449G>A	ENST00000293471.6	+	6	1992	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	ZNF613_ENST00000391794.4_Missense_Mutation_p.S402N|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613			19		all_neural(266;0.117)			AAAGGCTTCAGCCAGAAGACA	0.443000																								0							SO:0001583	missense			ENST00000293471.6	1	1	hg19	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238490	0.58886	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.19394	2.15;2.15	3.36	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.331298	0.22091	N	0.064756	T	0.25901	0.0631	L	0.35854	1.095	0.20764	N	0.99985	D	0.63046	0.992	P	0.59288	0.855	T	0.03043	-1.1079	10	0.59425	D	0.04	.	6.1129	0.20110	0.1094:0.1914:0.6992:0.0	.	438	Q6PF04	ZN613_HUMAN	N	438;402;112	ENSP00000293471:S438N;ENSP00000375671:S402N	ENSP00000293471:S438N	S	+	2	0	ZNF613	57140261	0.000000	0.05858	0.970000	0.41538	0.981000	0.71138	-0.130000	0.10498	0.756000	0.33013	0.655000	0.94253	AGC		TCGA-3E-AAAY-01A-11D-A38G-08	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	1	0	0	26	321	0	170	0	4.332782e-01	1	18	0	170	2		0	0	0	0	0	2	1	1.000000	26	315	0	168	2		0	0	0	0	170	2	-7.921733	1	1	0	0		1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.990000	0.940000	1.000000	1.000000	0.996304	0.990000	1	0.990000	1.000000
NLRP2	55655	broad.mit.edu	37	19	55501405	55501405	+	Silent	SNP	C	C	T	rs148932752		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:55501405C>T	ENST00000543010.1	+	9	2525	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	NLRP2_ENST00000448584.2_Silent_p.S794S|NLRP2_ENST00000263437.6_Silent_p.S791S|NLRP2_ENST00000339757.7_Silent_p.S772S|NLRP2_ENST00000537859.1_Silent_p.S772S|NLRP2_ENST00000538819.1_Silent_p.S770S|NLRP2_ENST00000427260.2_Silent_p.S771S|NLRP2_ENST00000391721.4_Silent_p.S770S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2			11			BRCA - Breast invasive adenocarcinoma(297;0.163)		TGTCTTGTTCCGCTACCACTC	0.512000																								0							SO:0001819	synonymous_variant			ENST00000543010.1	1	1	hg19	CCDS12913.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	1	0	0	23	259	0	139	0	7.361060e-03	0	2	0	139	2		0	0	0	0	0	2	1	0.999999	22	252	0	139	2		0	0	0	0	139	2	-2.690404	1	1	121412	8	42	1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.990000	0.990000	1.000000	1.000000	0.997975	0.990000	1	0.990000	1.000000
RETN	56729	broad.mit.edu	37	19	7735211	7735211	+	Silent	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:7735211G>A	ENST00000221515.2	+	4	391	c.303G>A	c.(301-303)gcG>gcA	p.A101A	RETN_ENST00000381324.2_Silent_p.A75A	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin			1					GGACCGGAGCGCGCTGCTGTC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000221515.2	0	1	hg19	CCDS12182.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461731.1	0	0	0	4	43	0	16	0	9.253838e-02	0	5	0	16	2		0	0	0	0	0	2	1	0.882813	4	41	0	16	2		0	0	0	0	16	2	-9.713918	1	1	0	0		1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.990000	0.550000	1.000000	1.000000	0.957854	0.990000	1	0.950000	1.000000
OR7G2	390882	broad.mit.edu	37	19	9213690	9213690	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr19:9213690G>A	ENST00000305456.2	-	1	292	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2			16					CTTTGGGATCGTGGTTGTGCT	0.488000													Esophageal Squamous(67;143 1448 28637 40648)											0							SO:0001583	missense			ENST00000305456.2	1	1	hg19	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	g	4.837	0.155672	0.09236	0.0	1.16E-4	ENSG00000170923	ENST00000305456	T	0.00882	5.58	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.201904	0.23891	N	0.043541	T	0.01870	0.0059	M	0.87900	2.915	0.09310	N	1	P	0.49961	0.93	B	0.39379	0.298	T	0.41288	-0.9517	10	0.62326	D	0.03	.	8.3321	0.32193	0.1159:0.0:0.8841:0.0	.	77	Q8NG99	OR7G2_HUMAN	M	98	ENSP00000303822:T98M	ENSP00000303822:T98M	T	-	2	0	OR7G2	9074690	0.000000	0.05858	0.524000	0.27887	0.008000	0.06430	-0.287000	0.08388	2.145000	0.66743	0.494000	0.49563	ACG		TCGA-3E-AAAY-01A-11D-A38G-08	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1	1	0	0	25	405	0	169		0	0	0	0	169	2		0	0	0	0	0	2	1	1.000000	23	394	0	168	2		0	0	0	0	169	2	-5.977114	1	1	121412	8	43	1	1	2	3	2.035854	0	0.110000	1.860000	0.119204	0.990000	0.720000	1.000000	1.000000	0.962532	0.990000	1	0.890000	1.000000
HP1BP3	50809	broad.mit.edu	37	1	21071440	21071440	+	Silent	SNP	C	C	T	rs144814158		TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:21071440C>T	ENST00000312239.5	-	13	1651	c.1512G>A	c.(1510-1512)acG>acA	p.T504T	HP1BP3_ENST00000375003.2_Silent_p.T352T|RP5-930J4.4_ENST00000413451.1_RNA	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3			16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)			TCTTGGCAGGCGTTTTGGCCT	0.527000																								0							SO:0001819	synonymous_variant			ENST00000312239.5	1	1	hg19	CCDS30621.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	0	0	0	12	336	0	165	1	9.732042e-01	30	143	0	165	2		0	0	0	0	0	2	1	0.999043	11	330	0	162	2		0	0	0	0	165	2	-3.342456	1	1	121412	15	43	1	1	2	3	2.015617	0	0.110000	1.860000	0.114868	0.660000	0.350000	1.000000	1.000000	0.687256	0.660000	0	0.490000	0.920000
PRDM16	63976	broad.mit.edu	37	1	3331138	3331138	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:3331138G>A	ENST00000270722.5	+	10	2667	c.2618G>A	c.(2617-2619)cGg>cAg	p.R873Q	PRDM16_ENST00000511072.1_Missense_Mutation_p.R874Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Missense_Mutation_p.R873Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.R873Q|PRDM16_ENST00000378398.3_Missense_Mutation_p.R873Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R872Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.R872Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16			59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)			GTAGAAAAGCGGAAGGTCACA	0.687000			T	EVI1	MDS, AML										Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0							SO:0001583	missense			ENST00000270722.5	0	1	hg19	CCDS41236.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	35	5.594815	0.96602	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06608	3.35;3.32;3.33;3.33;3.37;3.32;3.39;3.34;3.28	4.94	4.94	0.65067	.	0.000000	0.46758	D	0.000277	T	0.23330	0.0564	M	0.64404	1.975	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.79108	0.992;0.955;0.965;0.903	T	0.00498	-1.1704	10	0.46703	T	0.11	.	18.1398	0.89636	0.0:0.0:1.0:0.0	.	873;873;872;872	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	874;873;872;872;873;873;873;689;689;681	ENSP00000426975:R874Q;ENSP00000367651:R873Q;ENSP00000407968:R872Q;ENSP00000405253:R872Q;ENSP00000367643:R873Q;ENSP00000421400:R873Q;ENSP00000270722:R873Q;ENSP00000422504:R689Q;ENSP00000425796:R681Q	ENSP00000270722:R873Q	R	+	2	0	PRDM16	3320998	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.341000	0.97041	2.281000	0.76405	0.511000	0.50034	CGG		TCGA-3E-AAAY-01A-11D-A38G-08	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	1	0	0	4	90	0	43	0	6.798549e-02	1	7	0	43	2		0	0	0	0	0	2	1	0.884144	4	87	0	42	2		0	0	0	0	43	2	-7.179940	1	1	120878	5	34	1	0	1	1	2.015160	0	0.110000	1.860000	0.105078	0.790000	0.280000	1.000000	1.000000	0.766090	0.790000	0	0.490000	1.000000
TAL1	6886	broad.mit.edu	37	1	47685731	47685731	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr1:47685731C>T	ENST00000294339.3	-	4	1233	c.657G>A	c.(655-657)ccG>ccA	p.P219P	TAL1_ENST00000371883.3_Silent_p.P221P|TAL1_ENST00000371884.2_Silent_p.P219P|TAL1_ENST00000459729.1_5'UTR	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1			15					GCTTCTTGTCCGGGGGATGTG	0.587000			T	TRD@, SIL	lymphoblastic leukemia/biphasic										Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0							SO:0001819	synonymous_variant			ENST00000294339.3	1	1	hg19	CCDS547.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	1	0	0	21	310	0	138	0	1.299652e-02	0	3	0	138	2		0	0	0	0	0	2	1	0.999997	21	303	0	136	2		0	0	0	0	138	2	-2.578515	1	1	0	0		1	1	2	3	2.015617	0	0.110000	1.860000	0.114868	0.990000	0.750000	1.000000	1.000000	0.974001	0.990000	1	0.940000	1.000000
DEFB119	245932	broad.mit.edu	37	20	29965177	29965177	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr20:29965177C>T	ENST00000376321.3	-	2	246	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119			4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		TAGGGCTGTTCGTTCTTTTTG	0.433000																								0							SO:0001583	missense			ENST00000376321.3	1	1	hg19	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596310	0.46318	.	.	ENSG00000180483	ENST00000376321	T	0.73575	-0.76	4.31	4.31	0.51392	.	.	.	.	.	D	0.84946	0.5585	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86218	0.1629	8	0.87932	D	0	.	12.5997	0.56491	0.0:1.0:0.0:0.0	.	43	Q8N690	DB119_HUMAN	K	43	ENSP00000365499:E43K	ENSP00000365499:E43K	E	-	1	0	DEFB119	29428838	0.471000	0.25862	0.184000	0.23157	0.007000	0.05969	1.525000	0.35953	2.678000	0.91216	0.655000	0.94253	GAA		TCGA-3E-AAAY-01A-11D-A38G-08	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	1	0	0	34	605	0	279		0	0	0	0	279	2		0	0	0	0	0	2	1	1.000000	33	590	0	280	2		0	0	0	0	279	2	-5.349535	1	1	121412	2	41	1	1	2	3	2.031726	0	0.110000	1.860000	0.118244	0.990000	0.690000	1.000000	1.000000	0.939428	0.990000	1	0.830000	1.000000
TRAPPC10	7109	broad.mit.edu	37	21	45478983	45478983	+	Splice_Site	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr21:45478983G>A	ENST00000291574.4	+	6	853		c.e6-1		TRAPPC10_ENST00000380221.3_Splice_Site	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10			41					TGGGCGAATAGGAGGAGCTTG	0.448000																								0							SO:0001630	splice_region_variant			ENST00000291574.4	1	1	hg19	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763268	0.69763	.	.	ENSG00000160218	ENST00000380221;ENST00000291574	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8261	0.92119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRAPPC10	44303411	1.000000	0.71417	0.995000	0.50966	0.579000	0.36224	9.523000	0.98034	2.443000	0.82685	0.561000	0.74099	.		TCGA-3E-AAAY-01A-11D-A38G-08	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	1	0	0	15	252	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	0.999874	15	249	0	103	2		0	0	0	0	104	2	-2.810242	1	1	0	0		1	1	2	3	2.085679	0	0.110000	1.860000	0.130095	0.990000	0.640000	1.000000	1.000000	0.949281	0.990000	1	0.850000	1.000000
FAM49A	81553	broad.mit.edu	37	2	16745312	16745312	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:16745312C>T	ENST00000381323.3	-	5	463	c.243G>A	c.(241-243)gcG>gcA	p.A81A	FAM49A_ENST00000355549.2_Silent_p.A81A|FAM49A_ENST00000406434.1_Silent_p.A81A	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A			23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)		GAGGGCACACCGCATTCCAAG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000381323.3	1	1	hg19	CCDS1688.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	0	0	0	12	254	1	132	0	2.184062e-01	1	17	1	132	2		0	0	0	0	0	2	1	0.798505	12	249	1	132	9		0	0	0	1	132	2	-2.463726	0	1	121406	21	41	1	0	1	1	1.918548	0	0.110000	1.860000	0.058201	0.720000	0.410000	0.980000	0.730000	0.723612	0.720000	0	0.550000	0.890000
SAG	6295	broad.mit.edu	37	2	234229331	234229331	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr2:234229331C>T	ENST00000409110.1	+	5	467	c.237C>T	c.(235-237)atC>atT	p.I79I	SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)			9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)			TTGACGTGATCGGCTTGACCT	0.607000																								0							SO:0001819	synonymous_variant			ENST00000409110.1	0	1	hg19	CCDS46545.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	1	0	1	6	50	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.961766	6	47	0	21	2		0	0	0	0	21	2	-6.127719	1	1	121162	8	36	1	1	2	3	2.042421	0	0.110000	1.860000	0.120640	0.990000	0.800000	1.000000	1.000000	0.988569	0.990000	1	0.990000	1.000000
FBXL5	26234	broad.mit.edu	37	4	15627448	15627448	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr4:15627448A>G	ENST00000341285.3	-	9	1401	c.1277T>C	c.(1276-1278)aTt>aCt	p.I426T	FBXL5_ENST00000412094.2_Missense_Mutation_p.I409T|FBXL5_ENST00000382358.4_Missense_Mutation_p.I300T	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5			13					AGTTGAAGTAATTTTGCTTGT	0.393000																								0							SO:0001583	missense			ENST00000341285.3	1	1	hg19	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	0.449	-0.894587	0.02491	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358	T;T;T	0.30182	1.57;1.57;1.54	5.92	-0.683	0.11335	.	0.891429	0.10025	N	0.725521	T	0.10294	0.0252	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32052	-0.9921	10	0.09338	T	0.73	-0.7497	0.2314	0.00180	0.2771:0.162:0.2613:0.2996	.	409;426	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	T	426;409;300	ENSP00000344866:I426T;ENSP00000408679:I409T;ENSP00000371795:I300T	ENSP00000344866:I426T	I	-	2	0	FBXL5	15236546	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-0.249000	0.08842	-0.087000	0.12528	0.528000	0.53228	ATT		TCGA-3E-AAAY-01A-11D-A38G-08	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2	1	0	1	35	323	0	183	1	9.933099e-01	11	63	0	183	2		0	0	0	0	0	2	1	1.000000	33	322	0	183	2		0	0	0	0	183	2	-20.000000	1	1	0	0		1	1	2	3	2.043877	0	0.110000	1.860000	0.121118	0.990000	0.990000	1.000000	1.000000	0.999979	0.990000	1	0.990000	1.000000
REEP2	51308	broad.mit.edu	37	5	137777145	137777145	+	Silent	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:137777145C>T	ENST00000254901.5	+	3	299	c.177C>T	c.(175-177)ctC>ctT	p.L59L	REEP2_ENST00000506158.1_Silent_p.L21L|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000378339.2_Silent_p.L59L	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2			12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		ATATAGTGCTCTCCTGGTGAG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000254901.5	0	1	hg19	CCDS4205.1	.	.	.	.	.	.	.	.	.	.	C	9.842	1.191368	0.21954	.	.	ENSG00000132563	ENST00000512126	.	.	.	4.01	-4.81	0.03180	.	.	.	.	.	T	0.50769	0.1635	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52426	-0.8577	4	.	.	.	-4.1558	8.4986	0.33144	0.0:0.2491:0.5241:0.2268	.	.	.	.	F	97	.	.	S	+	2	0	REEP2	137805044	0.915000	0.31059	0.934000	0.37439	0.986000	0.74619	-0.207000	0.09384	-0.560000	0.06102	0.455000	0.32223	TCT		TCGA-3E-AAAY-01A-11D-A38G-08	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	0	0	0	8	164	0	77	0	9.570907e-02	0	10	0	77	2		0	0	0	0	0	2	1	0.989134	8	161	0	76	2		0	0	0	0	77	2	-3.354106	1	1	0	0		1	1	2	3	2.015560	0	0.110000	1.860000	0.114868	0.900000	0.420000	1.000000	1.000000	0.840956	0.900000	1	0.620000	1.000000
PCDHB3	56132	broad.mit.edu	37	5	140481822	140481822	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:140481822G>A	ENST00000231130.2	+	1	1589	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	p.R530H(1)		72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TTCGAGTTCCGCGTGGGCGCC	0.667000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000231130.2	1	1	hg19	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058176	0.01950	.	.	ENSG00000113205	ENST00000231130	T	0.01767	4.65	4.14	1.03	0.20045	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01092	0.0036	N	0.11064	0.09	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.48854	-0.8998	9	0.15499	T	0.54	.	6.6896	0.23163	0.1992:0.224:0.5769:0.0	.	530	Q9Y5E6	PCDB3_HUMAN	H	530	ENSP00000231130:R530H	ENSP00000231130:R530H	R	+	2	0	PCDHB3	140462006	0.000000	0.05858	0.989000	0.46669	0.065000	0.16274	-0.362000	0.07602	0.834000	0.34852	0.650000	0.86243	CGC		TCGA-3E-AAAY-01A-11D-A38G-08	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	1	0	0	28	342	0	172	0	7.516577e-02	0	6	0	172	2		0	0	0	0	0	2	1	0.999536	28	326	1	183	9		0	0	0	0	172	2	-3.318788	1	1	0	0		1	1	2	3	2.015560	0	0.110000	1.860000	0.114868	0.990000	0.950000	1.000000	1.000000	0.996819	0.990000	1	0.990000	1.000000
RASGEF1C	255426	broad.mit.edu	37	5	179548100	179548100	+	Missense_Mutation	SNP	A	A	C			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr5:179548100A>C	ENST00000393371.2	-	6	1060	c.764T>G	c.(763-765)tTc>tGc	p.F255C	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.F104C|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.F255C			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C			12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CAGCCTGTTGAACCATTTCAC	0.557000																								0							SO:0001583	missense			ENST00000393371.2	1	1	hg19	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934399	0.52866	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.39787	1.06;1.06;1.06	3.64	3.64	0.41730	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.059111	0.64402	D	0.000002	T	0.62575	0.2439	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67745	-0.5591	10	0.87932	D	0	.	11.5493	0.50711	1.0:0.0:0.0:0.0	.	255	Q8N431	RGF1C_HUMAN	C	255;255;104	ENSP00000354963:F255C;ENSP00000377037:F255C;ENSP00000429114:F104C	ENSP00000354963:F255C	F	-	2	0	RASGEF1C	179480706	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.407000	0.66363	1.677000	0.50941	0.254000	0.18369	TTC		TCGA-3E-AAAY-01A-11D-A38G-08	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	1	0	0	16	288	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	0.999920	16	278	0	99	2		0	0	0	0	99	2	-18.389890	1	1	0	0		1	1	2	3	2.015560	0	0.110000	1.860000	0.114868	0.990000	0.580000	1.000000	1.000000	0.910360	0.990000	1	0.760000	1.000000
AIM1	202	broad.mit.edu	37	6	106987390	106987390	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr6:106987390C>T	ENST00000369066.3	+	7	4094	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1			69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)		TGGATCCATGCGGCCTCTGAA	0.438000																								0							SO:0001583	missense			ENST00000369066.3	0	1	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674524	0.67928	2.27E-4	0.0	ENSG00000112297	ENST00000369066	D	0.82344	-1.6	5.66	3.67	0.42095	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.094954	0.64402	D	0.000002	D	0.90728	0.7090	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92760	0.6223	10	0.87932	D	0	.	13.4764	0.61312	0.4327:0.5673:0.0:0.0	.	1203	Q9Y4K1	AIM1_HUMAN	W	1203	ENSP00000358062:R1203W	ENSP00000358062:R1203W	R	+	1	2	AIM1	107094083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.275000	0.33144	1.360000	0.45960	0.655000	0.94253	CGG		TCGA-3E-AAAY-01A-11D-A38G-08	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	0	0	0	6	425	0	201	0	1.448882e-02	0	11	0	201	2		0	0	0	0	0	2	1	0.962874	6	416	0	199	2		0	0	0	0	201	2	-2.223643	0	1	121412	2	36	1	0	0	0	1.958727	0	0.110000	1.860000	0.078580	0.250000	0.100000	0.490000	0.240000	0.276203	0.250000	0	0.170000	0.370000
DNAH11	8701	broad.mit.edu	37	7	21628848	21628848	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:21628848G>A	ENST00000409508.3	+	12	2027	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	DNAH11_ENST00000328843.6_Missense_Mutation_p.A666T	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					TCCTGATCACGCTTTAGTTTA	0.303000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.091	0.014837	0.07959	.	.	ENSG00000105877	ENST00000328843	T	0.55413	0.52	5.58	3.79	0.43588	Dynein heavy chain, domain-1 (1);	0.823945	0.11127	N	0.596763	T	0.38612	0.1047	.	.	.	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.26815	-1.0092	9	0.41790	T	0.15	.	6.2505	0.20843	0.1557:0.0:0.6953:0.149	.	666	Q96DT5	DYH11_HUMAN	T	666	ENSP00000330671:A666T	ENSP00000330671:A666T	A	+	1	0	DNAH11	21595373	0.022000	0.18835	0.476000	0.27291	0.043000	0.13939	1.048000	0.30379	0.731000	0.32448	0.650000	0.86243	GCT		TCGA-3E-AAAY-01A-11D-A38G-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	0	15	201	1	85		0	0	0	1	85	2		0	0	0	0	0	2	1	0.883000	15	198	1	85	10		0	0	0	1	85	2	-6.240001	1	1	0	0		1	1	2	3	2.047513	0	0.110000	1.860000	0.122072	0.990000	0.770000	1.000000	1.000000	0.982963	0.990000	1	0.990000	1.000000
BAZ1B	9031	broad.mit.edu	37	7	72892025	72892025	+	Missense_Mutation	SNP	T	T	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr7:72892025T>G	ENST00000339594.4	-	7	2104	c.1766A>C	c.(1765-1767)aAc>aCc	p.N589T	BAZ1B_ENST00000404251.1_Missense_Mutation_p.N589T	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B			61		Lung NSC(55;0.0659)|all_lung(88;0.152)			TGCTGGAAGGTTTTTGCCAGT	0.458000													Esophageal Squamous(112;1167 1561 21085 43672 48228)											0							SO:0001583	missense			ENST00000339594.4	1	1	hg19	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	5.695	0.312690	0.10789	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.57273	0.41;0.41	5.82	-6.38	0.01957	.	0.558505	0.22152	N	0.063904	T	0.32436	0.0829	L	0.40543	1.245	0.24006	N	0.996196	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.14656	T	0.56	-6.4103	10.4288	0.44395	0.0:0.4925:0.284:0.2234	.	589	Q9UIG0	BAZ1B_HUMAN	T	589	ENSP00000342434:N589T;ENSP00000385442:N589T	ENSP00000342434:N589T	N	-	2	0	BAZ1B	72529961	0.003000	0.15002	0.412000	0.26496	0.974000	0.67602	-0.564000	0.05936	-1.088000	0.03077	0.533000	0.62120	AAC		TCGA-3E-AAAY-01A-11D-A38G-08	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	0	0	0	69	907	0	393	1	6.193964e-01	4	25	0	393	2		0	0	0	0	0	2	1	1.000000	69	890	0	391	2		0	0	0	0	393	2	-12.935160	1	1	0	0		1	1	2	3	2.055439	0	0.110000	1.860000	0.123498	0.990000	0.990000	1.000000	1.000000	0.999513	0.990000	1	0.990000	1.000000
ZC3H3	23144	broad.mit.edu	37	8	144620233	144620233	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:144620233G>A	ENST00000262577.5	-	2	1335	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3			23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		AGCCGAGAGCGGGGTCTCCCC	0.642000																								0							SO:0001583	missense			ENST00000262577.5	0	1	hg19	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	3.338	-0.135192	0.06711	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.31	4.4	0.53042	.	0.573853	0.17539	N	0.170615	T	0.02455	0.0075	L	0.47716	1.5	0.09310	N	1	P	0.37997	0.614	B	0.22152	0.038	T	0.47837	-0.9086	10	0.31617	T	0.26	-2.5276	6.5088	0.22210	0.0734:0.1267:0.6613:0.1386	.	435	Q8IXZ2	ZC3H3_HUMAN	L	435	ENSP00000262577:P435L	ENSP00000262577:P435L	P	-	2	0	ZC3H3	144691376	0.002000	0.14202	0.005000	0.12908	0.022000	0.10575	1.201000	0.32259	1.177000	0.42855	0.561000	0.74099	CCG		TCGA-3E-AAAY-01A-11D-A38G-08	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	0	0	0	5	157	0	87	1	4.052244e-01	4	35	0	87	2		0	0	0	0	0	2	1	0.932155	5	151	0	86	2		0	0	0	0	87	2	-6.966358	1	1	121350	2	32	1	1	2	3	2.037747	0	0.110000	1.860000	0.119683	0.660000	0.240000	1.000000	1.000000	0.683308	0.660000	0	0.400000	1.000000
HOOK3	84376	broad.mit.edu	37	8	42805542	42805542	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:42805542G>A	ENST00000307602.4	+	6	612	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	Y_RNA_ENST00000365644.1_RNA	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3			31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		GTACATCCAAGCCATTATGAT	0.353000			T	RET	papillary thyroid										Dom	yes		8	8p11.21	84376	hook homolog 3		E	0							SO:0001583	missense			ENST00000307602.4	0	1	hg19	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487393	0.44249	.	.	ENSG00000168172	ENST00000307602	T	0.17370	2.28	5.7	5.7	0.88788	.	0.104415	0.64402	N	0.000006	T	0.06462	0.0166	N	0.02539	-0.55	0.40492	D	0.980557	B;B	0.18310	0.027;0.0	B;B	0.22880	0.042;0.003	T	0.40627	-0.9553	10	0.20046	T	0.44	-4.5861	7.4677	0.27330	0.1979:0.0:0.8021:0.0	.	138;138	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	T	138	ENSP00000305699:A138T	ENSP00000305699:A138T	A	+	1	0	HOOK3	42924699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.773000	0.68898	2.677000	0.91161	0.650000	0.86243	GCC		TCGA-3E-AAAY-01A-11D-A38G-08	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	0	0	0	12	596	0	270	0	1.239606e-02	0	8	0	270	2		0	0	0	0	0	2	1	0.999032	12	586	0	268	2		0	0	0	0	270	2	-2.677842	1	1	0	0		1	0	0	0	1.968648	0	0.110000	1.860000	0.083797	0.350000	0.190000	0.570000	0.340000	0.369641	0.350000	0	0.260000	0.470000
ZFHX4	79776	broad.mit.edu	37	8	77767067	77767067	+	Missense_Mutation	SNP	A	A	G			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr8:77767067A>G	ENST00000521891.2	+	10	8358	c.7910A>G	c.(7909-7911)cAt>cGt	p.H2637R	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2611R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2592R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2592R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4			432			BRCA - Breast invasive adenocarcinoma(89;0.0895)		ATGCTTGATCATATTGCCCGC	0.507000										HNSCC(33;0.089)														0							SO:0001583	missense			ENST00000521891.2	1	1	hg19	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	8.874	0.950034	0.18431	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.47093	U	0.000258	D	0.89291	0.6673	N	0.01473	-0.845	0.80722	D	1	P;B;B	0.34412	0.453;0.399;0.259	B;B;B	0.42827	0.128;0.078;0.399	D	0.89968	0.4091	10	0.40728	T	0.16	.	15.4359	0.75146	1.0:0.0:0.0:0.0	.	2592;2592;2637	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2637;2621;2592;2592;2611	ENSP00000430497:H2637R;ENSP00000399605:H2592R;ENSP00000050961:H2592R;ENSP00000430848:H2611R	ENSP00000050961:H2592R	H	+	2	0	ZFHX4	77929622	1.000000	0.71417	0.327000	0.25402	0.090000	0.18270	9.139000	0.94554	2.230000	0.72887	0.528000	0.53228	CAT		TCGA-3E-AAAY-01A-11D-A38G-08	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	0	11	188	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.998244	11	183	0	78	2		0	0	0	0	78	2	-14.594170	1	1	120810	1	31	1	1	2	3	2.037747	0	0.110000	1.860000	0.119683	0.990000	0.560000	1.000000	1.000000	0.925270	0.990000	1	0.790000	1.000000
TGFBR1	7046	broad.mit.edu	37	9	101891209	101891209	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:101891209C>T	ENST00000374994.4	+	2	287	c.170C>T	c.(169-171)tCt>tTt	p.S57F	TGFBR1_ENST00000552516.1_Missense_Mutation_p.S57F|TGFBR1_ENST00000374990.2_Missense_Mutation_p.S57F|TGFBR1_ENST00000550253.1_5'UTR	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1			27		Acute lymphoblastic leukemia(62;0.0559)			TGCTTTGTCTCTGTCACAGAG	0.408000																								0							SO:0001583	missense			ENST00000374994.4	1	1	hg19	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508992	0.85282	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000546096;ENST00000546584	D;D;D;D	0.98044	-4.68;-4.68;-4.68;-4.68	6.08	6.08	0.98989	TGF-beta receptor/activin receptor, type I/II (1);	0.334572	0.36002	N	0.002853	D	0.97012	0.9024	M	0.73430	2.235	0.80722	D	1	P;B	0.40794	0.729;0.057	B;B	0.41236	0.351;0.082	D	0.96884	0.9648	10	0.87932	D	0	.	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	57;57	P36897-3;P36897	.;TGFR1_HUMAN	F	57;57;57;57;42;54	ENSP00000364133:S57F;ENSP00000364129:S57F;ENSP00000447297:S57F;ENSP00000447707:S54F	ENSP00000364129:S57F	S	+	2	0	TGFBR1	100931030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.297000	0.65704	2.894000	0.99253	0.591000	0.81541	TCT		TCGA-3E-AAAY-01A-11D-A38G-08	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3	1	0	0	44	486	0	243	0	2.054057e-02	0	3	0	243	2	1	1	23	338	0	251	2	1	1.000000	43	476	0	242	2		0	0	0	0	243	2	-3.017764	1	1	0	0		1	0	1	1	1.916859	0	0.110000	1.860000	0.061478	0.990000	0.850000	1.000000	1.000000	0.979279	0.990000	1	0.940000	1.000000
C9orf24	84688	broad.mit.edu	37	9	34381395	34381395	+	Silent	SNP	A	A	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:34381395A>T	ENST00000297623.2	-	4	642	c.444T>A	c.(442-444)ccT>ccA	p.P148P	C9orf24_ENST00000379124.1_Silent_p.P13P|C9orf24_ENST00000379133.3_Silent_p.P13P|C9orf24_ENST00000379126.3_Silent_p.P13P|C9orf24_ENST00000379127.1_Silent_p.P13P|C9orf24_ENST00000481295.1_5'Flank	NM_032596.3	NP_115985.2	Q8NCR6	SMRP1_HUMAN	chromosome 9 open reading frame 24			5			LUSC - Lung squamous cell carcinoma(29;0.0107)		CCGGCCTAGGAGGGCATTCCA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000297623.2	1	1	hg19	CCDS6554.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	C9orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001098.3	1	0	0	29	334	0	185	0	1.967078e-02	1	2	0	185	2		0	0	0	0	0	2	1	1.000000	28	328	0	181	2		0	0	0	0	185	2	-9.198959	1	1	0	0		1	0	1	1	1.916859	0	0.110000	1.860000	0.061478	0.980000	0.770000	1.000000	1.000000	0.958010	0.980000	1	0.890000	1.000000
TRPM3	80036	broad.mit.edu	37	9	73151305	73151305	+	Missense_Mutation	SNP	G	G	A			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:73151305G>A	ENST00000377110.3	-	25	4931	c.4688C>T	c.(4687-4689)gCg>gTg	p.A1563V	TRPM3_ENST00000360823.2_Missense_Mutation_p.A1425V|TRPM3_ENST00000396285.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000423814.3_Missense_Mutation_p.A1590V|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396292.4_Missense_Mutation_p.A1435V|TRPM3_ENST00000377105.1_Missense_Mutation_p.A1422V|TRPM3_ENST00000358082.3_Missense_Mutation_p.A1425V|TRPM3_ENST00000408909.2_Missense_Mutation_p.A1422V|TRPM3_ENST00000396280.5_Missense_Mutation_p.A1412V|TRPM3_ENST00000377106.1_Missense_Mutation_p.A1435V|TRPM3_ENST00000357533.2_Missense_Mutation_p.A1567V			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3			95					AGCTCTGTCCGCAATTGCTTG	0.493000																								0							SO:0001583	missense			ENST00000377110.3	0	1	hg19	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	G	6.617	0.482296	0.12581	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.56275	0.56;0.5;0.5;0.47;0.57;0.47;0.51;0.5;0.5;0.56	5.87	4.97	0.65823	.	0.180840	0.47093	D	0.000241	T	0.29158	0.0725	N	0.11560	0.145	0.19775	N	0.99995	B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001;0.001;0.0	T	0.10590	-1.0623	10	0.12766	T	0.61	-8.7036	10.1358	0.42706	0.0704:0.0:0.7916:0.138	.	1563;1553;1567;1425;1422;1535;1422	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	V	1563;1435;1425;1422;1567;1422;1422;1435;1425;1590	ENSP00000366314:A1563V;ENSP00000366310:A1435V;ENSP00000354066:A1425V;ENSP00000366309:A1422V;ENSP00000350140:A1567V;ENSP00000386127:A1422V;ENSP00000379581:A1422V;ENSP00000379587:A1435V;ENSP00000350791:A1425V;ENSP00000389542:A1590V	ENSP00000350140:A1567V	A	-	2	0	TRPM3	72341125	0.994000	0.37717	0.071000	0.20095	0.751000	0.42716	4.224000	0.58593	2.785000	0.95823	0.655000	0.94253	GCG		TCGA-3E-AAAY-01A-11D-A38G-08	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	0	0	0	5	387	1	179		0	0	0	1	179	2		0	0	0	0	0	2	0	0.137011	5	378	1	178	10		0	0	0	1	179	2	-1.964215	0	1	121412	2	35	1	0	1	1	1.916859	0	0.110000	1.860000	0.061478	0.230000	0.080000	0.460000	0.210000	0.252366	0.230000	0	0.140000	0.350000
ZCCHC6	79670	broad.mit.edu	37	9	88938112	88938112	+	Silent	SNP	G	G	A	rs146207882	byFrequency	TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chr9:88938112G>A	ENST00000375963.3	-	13	2725	c.2553C>T	c.(2551-2553)gaC>gaT	p.D851D	ZCCHC6_ENST00000375961.2_Silent_p.D851D|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Silent_p.D728D|ZCCHC6_ENST00000277141.6_Silent_p.D140D	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6			46					cctcttcttcgtcgtcctcct	0.463000																								0							SO:0001819	synonymous_variant			ENST00000375963.3	1	0	hg19	CCDS35057.1																																																																																				TCGA-3E-AAAY-01A-11D-A38G-08	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	1	0	0	13	221	0	117	1	2.242333e-01	4	11	0	117	2		0	0	0	0	0	2	1	0.850983	13	217	1	115	9		0	0	0	0	117	2	-3.298050	1	1	121404	163	54	1	0	1	1	1.916859	0	0.110000	1.860000	0.061478	0.840000	0.500000	1.000000	1.000000	0.825546	0.840000	0	0.660000	0.990000
KIF4A	24137	broad.mit.edu	37	X	69615826	69615826	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:69615826C>T	ENST00000374403.3	+	22	2498	c.2416C>T	c.(2416-2418)Cgt>Tgt	p.R806C	KIF4A_ENST00000374388.3_Missense_Mutation_p.R806C|RNY4P23_ENST00000364507.1_RNA	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A			51					TACTGAAGTGCGTGGTCAAGT	0.398000																								0							SO:0001583	missense			ENST00000374403.3	0	1	hg19	CCDS14401.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.236	0.411750	0.11812	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.69806	-0.43;-0.37	4.78	3.92	0.45320	.	0.641178	0.13965	N	0.350586	T	0.35682	0.0940	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20706	-1.0267	9	.	.	.	.	7.9061	0.29763	0.0:0.886:0.0:0.114	.	806	O95239	KIF4A_HUMAN	C	806;806;108	ENSP00000363509:R806C;ENSP00000363524:R806C	.	R	+	1	0	KIF4A	69532551	0.999000	0.42202	0.001000	0.08648	0.223000	0.24884	3.801000	0.55545	1.133000	0.42147	0.594000	0.82650	CGT		TCGA-3E-AAAY-01A-11D-A38G-08	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	0	0	0	5	120	0	45	0	8.401479e-02	0	10	0	45	2		0	0	0	0	0	2	1	0.936177	5	118	0	44	2		0	0	0	0	45	2	-2.998761	1	1	121410	2	30	1	0	1	1			0.110000	1.860000	0.110000	0.370000	0.140000	0.720000	0.340000	0.400970	0.370000	0	0.240000	0.550000
SRPX2	27286	broad.mit.edu	37	X	99925874	99925874	+	Missense_Mutation	SNP	C	C	T			TCGA-3E-AAAY-01A-11D-A38G-08	TCGA-3E-AAAY-10A-01D-A38J-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e732348f-c0aa-41bb-b465-09607386d190	6eadfab7-891c-443f-bf86-e072cb8338d3	g.chrX:99925874C>T	ENST00000373004.3	+	11	1716	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	RP11-524D16__A.3_ENST00000568809.1_RNA	NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2			19					TGACCGAGACCGCTACATGGA	0.512000											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000373004.3	1	1	hg19	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590739	0.86851	.	.	ENSG00000102359	ENST00000373004	T	0.54071	0.59	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76756	-0.2842	9	.	.	.	-14.007	17.6638	0.88198	0.0:1.0:0.0:0.0	.	430	O60687	SRPX2_HUMAN	C	430	ENSP00000362095:R430C	.	R	+	1	0	SRPX2	99812530	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.063000	0.64332	2.357000	0.79964	0.523000	0.50628	CGC		TCGA-3E-AAAY-01A-11D-A38G-08	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	1	0	1	24	143	0	75	1	9.999907e-01	12	106	0	75	2		0	0	0	0	0	2	1	1.000000	24	141	0	75	2		0	0	0	0	75	2	-2.895261	1	1	0	0		1	0	1	1			0.110000	1.860000	0.110000	0.920000	0.710000	1.000000	0.990000	0.910525	0.920000	1	0.820000	0.980000
