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
ZC3H7A	29066	broad.mit.edu	37	16	11855848	11855848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:11855848delC	ENST00000396516.2	-	17	2328	c.2131delG	c.(2131-2133)gtgfs	p.V711fs	ZC3H7A_ENST00000575984.1_5'Flank|ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.V711fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A			25					TGGGCGCACACAAACTTTATC	0.333000																								0							SO:0001589	frameshift_variant			ENST00000396516.2	0	1	hg19	CCDS10550.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	1	0	0	15	219	0	39	0	9.085565e-01	0	63	0	39	2	0	0	0	0	0	0		1	0.999884	15	218	0	39	2	0	0	0	0	0	0		-18.696580	1	1	0	0		1	0	1	1	2.016145	0	0.890000	1.980000	0.889508	0.140000	8.000000e-02	0.230000	0.140000	0.151592	0.140000	0	1.000000e-01	1.900000e-01
PAQR6	79957	broad.mit.edu	37	1	156215327	156215327	+	Splice_Site	DEL	G	G	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:156215327delG	ENST00000292291.5	-	5	669	c.511delC	c.(511-513)cgt>gt	p.R171fs	PAQR6_ENST00000368270.1_Splice_Site_p.R147fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Splice_Site_p.R65fs|PAQR6_ENST00000356983.2_Splice_Site_p.R65fs|PAQR6_ENST00000540423.1_Splice_Site_p.R168fs	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI			5	Hepatocellular(266;0.158)				GGAACCCACCGGGAGTAGCAG	0.662000													GBM(16;219 398 12385 32425 38531)											0							SO:0001630	splice_region_variant			ENST00000292291.5	1	0	hg19	CCDS1136.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	1	0	0	126	373	0	68	1	1	7	232	0	68	2	0	0	0	0	0	0		1	1.000000	138	367	1	70	23	0	0	0	0	0	0		-5.727515	1	1	0	0		1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.590000	5.000000e-01	1.000000	0.600000	0.618712	0.590000	0	5.400000e-01	6.600000e-01
TTN	7273	broad.mit.edu	37	2	179393379	179393387	+	In_Frame_Del	DEL	TCTGAGAGT	TCTGAGAGT	-			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:179393379_179393387delTCTGAGAGT	ENST00000591111.1	-	310	102392_102400	c.102168_102176delACTCTCAGA	c.(102166-102177)gaactctcagat>gat	p.ELS34056del	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.ELS33129del|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.ELS26632del|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.ELS35697del|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_In_Frame_Del_p.ELS26824del|TTN_ENST00000359218.5_In_Frame_Del_p.ELS26757del|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GGCTGGAGCATCTGAGAGTTCTTTGCTCA	0.431000																								0							SO:0001651	inframe_deletion			ENST00000591111.1	0	1	hg19																																																																																					TCGA-US-A776-01A-13D-A33T-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	26	100	0	22	0	7.419573e-01	0	12	0	22	2	0	0	0	0	0	0		1	0.970758	35	107	1	23	18	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	1.891037	1	0.890000	1.980000	0.890000	0.480000	3.200000e-01	1.000000	0.460000	0.562448	0.480000	0	3.900000e-01	1
PPRC1	23082	broad.mit.edu	37	10	103907024	103907024	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:103907024C>T	ENST00000278070.2	+	9	4314	c.4275C>T	c.(4273-4275)cgC>cgT	p.R1425R	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.R392R|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			GCCGAGGCCGCAACAGCCGTT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000278070.2	1	1	hg19	CCDS7529.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	1	0	0	35	397	0	91	1	9.903990e-01	4	80	0	91	2		0	0	0	0	0	2	1	1.000000	33	385	0	89	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.652429	1	0.890000	1.980000	0.860122	0.140000	9.000000e-02	0.190000	0.140000	0.146541	0.140000	0	1.100000e-01	1.700000e-01
DMBT1	1755	broad.mit.edu	37	10	124402694	124402694	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:124402694G>A	ENST00000338354.3	+	53	7128	c.7022G>A	c.(7021-7023)cGc>cAc	p.R2341H	DMBT1_ENST00000368909.3_Missense_Mutation_p.R2341H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1061H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1713H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2331H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1713H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1			72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)			CGCATTGCCCGCTTCCGGTTC	0.582000													Ovarian(182;93 2026 18125 22222 38972)											0							SO:0001583	missense			ENST00000338354.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.5	4.418744	0.83559	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.28	4.37	0.52481	Zona pellucida sperm-binding protein (3);	0.000000	0.39475	U	0.001355	D	0.92678	0.7673	M	0.85945	2.785	0.42305	D	0.992198	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.81914	0.992;0.731;0.984;0.992;0.984;0.992;0.995	D	0.93947	0.7228	10	0.87932	D	0	.	15.2327	0.73404	0.0:0.0:0.8583:0.1417	.	1061;2321;1590;2470;1713;2331;2341	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	2341;2470;2341;2341;2341;2340;1713;2331;1713;1713;2341;2331;1713;487;1061	ENSP00000342210:R2341H;ENSP00000343175:R2331H;ENSP00000327747:R1713H;ENSP00000357905:R2341H;ENSP00000357951:R2331H;ENSP00000357952:R1713H;ENSP00000352593:R1061H	ENSP00000331522:R1713H	R	+	2	0	DMBT1	124392684	1.000000	0.71417	0.924000	0.36721	0.011000	0.07611	5.988000	0.70579	1.216000	0.43427	-0.181000	0.13052	CGC		TCGA-US-A776-01A-13D-A33T-08	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	1	0	1	96	291	0	101	1	7.495088e-01	5	5	0	101	2		0	0	0	0	0	2	1	1.000000	95	285	0	100	2	0	0	0	0	0	0		-5.340633	1	1	0	0		1	0	1	1	1.688047	1	0.890000	1.980000	0.863218	0.440000	3.600000e-01	0.520000	0.450000	0.450449	0.440000	0	4.000000e-01	4.900000e-01
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene		CCDC6/RET(4)|KIF5B/RET(79)	607		Ovarian(717;0.0423)		Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTGGACCTTGCGGCGTCCACT	0.557000		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0							SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	ENST00000355710.3	0	1	hg19	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG		TCGA-US-A776-01A-13D-A33T-08	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	0	0	0	8	1229	0	244	0	9.052973e-03	0	19	0	244	2		0	0	0	0	0	2	1	0.988840	8	1216	0	239	2	0	0	0	0	0	0		-1.892079	0	1	0	0		1	0	1	1	1.907868	0	0.890000	1.980000	0.884338	0.010000	0	0.030000	0.020000	0.018987	0.010000	0	0	3.000000e-02
PFKFB3	5209	broad.mit.edu	37	10	6264820	6264820	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:6264820C>T	ENST00000379775.4	+	11	1416	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	PFKFB3_ENST00000379789.4_Silent_p.S342S|PFKFB3_ENST00000379782.3_Silent_p.S362S|PFKFB3_ENST00000540253.1_Silent_p.S376S|PFKFB3_ENST00000317350.4_Silent_p.S362S|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000360521.2_Silent_p.S362S|PFKFB3_ENST00000379785.1_Silent_p.S362S	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3			22					GTGCTCAGTCCTACCAGGACC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000379775.4	1	1	hg19	CCDS7078.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1	1	0	1	67	77	0	31	1	9.989272e-01	6	10	0	31	2		0	0	0	0	0	2	1	1.000000	67	77	0	31	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.127658	0	0.890000	1.980000	0.892861	0.990000	8.800000e-01	1.000000	1.000000	0.988656	0.990000	1	9.700000e-01	1
STOX1	219736	broad.mit.edu	37	10	70644582	70644582	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr10:70644582G>A	ENST00000298596.6	+	3	1113	c.1030G>A	c.(1030-1032)Gtc>Atc	p.V344I	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.V234I|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.V344I	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1			28					AGAATGGCCCGTCCGAGATGA	0.418000																								0							SO:0001583	missense			ENST00000298596.6	0	1	hg19	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	G	32	5.121909	0.94429	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.80304	-1.36;-1.36;-1.04	6.08	6.08	0.98989	.	0.000000	0.64402	U	0.000003	D	0.90577	0.7046	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90109	0.4190	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	344	Q6ZVD7	STOX1_HUMAN	I	344;344;234	ENSP00000382121:V344I;ENSP00000298596:V344I;ENSP00000394509:V234I	ENSP00000298596:V344I	V	+	1	0	STOX1	70314588	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.909000	0.87444	2.894000	0.99253	0.591000	0.81541	GTC		TCGA-US-A776-01A-13D-A33T-08	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	0	0	0	5	409	0	82	0	2.421140e-04	0	2	0	82	2		0	0	0	0	0	2	1	0.936701	5	406	0	79	2	0	0	0	0	0	0		-2.837296	1	1	120862	3	38	1	0	1	1	1.652429	1	0.890000	1.980000	0.860122	0.010000	0	0.050000	0.020000	0.024907	0.010000	0	0	4.000000e-02
ATM	472	broad.mit.edu	37	11	108158373	108158373	+	Nonsense_Mutation	SNP	T	T	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:108158373T>G	ENST00000452508.2	+	28	4229	c.4040T>G	c.(4039-4041)tTa>tGa	p.L1347*	ATM_ENST00000278616.4_Nonsense_Mutation_p.L1347*			Q13315	ATM_HUMAN	ATM serine/threonine kinase			448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	GTGGTGGAGTTATTGATGACG	0.348000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0							SO:0001587	stop_gained	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	0	1	hg19	CCDS31669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	46|46	12.766491|12.766491	0.99694|0.99694	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508|ENST00000531525	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73536	.|0.3599	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72769	.|-0.4193	.|3	0.02654|.	T|.	1|.	.|.	16.6093|16.6093	0.84858|0.84858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|D	1347|17	.|.	ENSP00000278616:L1347X|.	L|Y	+|+	2|1	0|0	ATM|ATM	107663583|107663583	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	7.196000|7.196000	0.77805|0.77805	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	TTA|TAT		TCGA-US-A776-01A-13D-A33T-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	182	29	0	52	0	0	0	1	0	52	2	1	1	247	67	0	405	2	1	1.000000	181	29	0	52	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	1.554261	1	0.890000	1.980000	0.890000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FDXACB1	91893	broad.mit.edu	37	11	111746220	111746220	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111746220C>A	ENST00000260257.4	-	5	1348	c.1301G>T	c.(1300-1302)aGc>aTc	p.S434I	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.S285I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1			19					GACTAAACTGCTCAGCTTAGA	0.413000																								0							SO:0001583	missense			ENST00000260257.4	1	1	hg19	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	8.055	0.766748	0.15983	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.73152	0.29;-0.72;0.75	5.86	3.0	0.34707	.	0.412136	0.29486	N	0.012014	T	0.55289	0.1911	L	0.48642	1.525	0.09310	N	1	P	0.39216	0.664	B	0.31191	0.125	T	0.49466	-0.8937	10	0.42905	T	0.14	.	7.2435	0.26109	0.0:0.6412:0.1278:0.231	.	434	Q9BRP7	FDXA1_HUMAN	I	434;285;345	ENSP00000260257:S434I;ENSP00000441304:S285I;ENSP00000435572:S345I	ENSP00000260257:S434I	S	-	2	0	FDXACB1	111251430	0.000000	0.05858	0.005000	0.12908	0.016000	0.09150	0.173000	0.16724	0.821000	0.34540	0.655000	0.94253	AGC		TCGA-US-A776-01A-13D-A33T-08	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	1	0	1	106	340	0	102	0	3.437582e-01	1	4	0	102	2		0	0	0	0	0	2	1	1.000000	106	338	0	100	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	1.554261	1	0.890000	1.980000	0.890000	0.540000	4.400000e-01	1.000000	0.540000	0.619689	0.540000	0	4.900000e-01	1
C11orf52	91894	broad.mit.edu	37	11	111796862	111796862	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:111796862C>T	ENST00000278601.5	+	4	407	c.311C>T	c.(310-312)gCg>gTg	p.A104V	RNA5SP351_ENST00000459480.1_RNA|CRYAB_ENST00000527950.1_5'Flank|C11orf52_ENST00000527286.1_3'UTR|DIXDC1_ENST00000529225.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_3'UTR	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52			3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)			ACAGAGTATGCGACCCTTCGC	0.547000																								0							SO:0001583	missense			ENST00000278601.5	0	1	hg19	CCDS8353.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373981	0.82573	.	.	ENSG00000149300	ENST00000278601	T	0.58652	0.32	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000040	T	0.66819	0.2828	L	0.34521	1.04	0.41178	D	0.986213	D	0.89917	1.0	D	0.91635	0.999	T	0.70070	-0.4973	10	0.87932	D	0	-19.5459	15.2968	0.73916	0.0:1.0:0.0:0.0	.	104	Q96A22	CK052_HUMAN	V	104	ENSP00000278601:A104V	ENSP00000278601:A104V	A	+	2	0	C11orf52	111302072	0.992000	0.36948	0.934000	0.37439	0.541000	0.35023	4.038000	0.57318	2.637000	0.89404	0.561000	0.74099	GCG		TCGA-US-A776-01A-13D-A33T-08	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	0	0	0	4	222	1	43	0	4.380343e-03	0	54	1	43	6		0	0	0	0	0	2	0	0.002462	4	217	1	41	17	0	0	0	0	0	0		-3.070375	1	1	0	0		1	0	2	2	1.554261	1	0.890000	1.980000	0.890000	0.040000	0	1.000000	0.040000	0.219578	0.040000	0	2.000000e-02	1
TECTA	7007	broad.mit.edu	37	11	121031073	121031073	+	Missense_Mutation	SNP	C	C	T	rs143546623		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:121031073C>T	ENST00000392793.1	+	15	5190	c.4919C>T	c.(4918-4920)cCg>cTg	p.P1640L	TECTA_ENST00000264037.2_Missense_Mutation_p.P1640L			O75443	TECTA_HUMAN	tectorin alpha		TECTA/TBCEL(2)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)			CGAGGGAAGCCGGTGGTAAGC	0.542000																								0							SO:0001583	missense			ENST00000392793.1	0	1	hg19	CCDS8434.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.80	2.940023	0.52972	0.0	1.16E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.34275	1.37;1.37	4.77	4.77	0.60923	von Willebrand factor, type D domain (1);	0.067003	0.64402	D	0.000010	T	0.21307	0.0513	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	B	0.43331	0.416	T	0.05835	-1.0861	10	0.09084	T	0.74	.	17.9956	0.89182	0.0:1.0:0.0:0.0	.	1640	O75443	TECTA_HUMAN	L	1640	ENSP00000376543:P1640L;ENSP00000264037:P1640L	ENSP00000264037:P1640L	P	+	2	0	TECTA	120536283	1.000000	0.71417	0.955000	0.39395	0.987000	0.75469	5.902000	0.69869	2.461000	0.83175	0.655000	0.94253	CCG		TCGA-US-A776-01A-13D-A33T-08	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	0	0	8	587	0	142		0	0	0	0	142	2		0	0	0	0	0	2	1	0.989146	8	583	0	140	2	0	0	0	0	0	0		-2.251517	0	1	121412	7	43	1	0	2	2	1.554261	1	0.890000	1.980000	0.890000	0.030000	0	1.000000	0.040000	0.206630	0.030000	0	1.000000e-02	1
OR8G5	219865	broad.mit.edu	37	11	124135465	124135465	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:124135465C>T	ENST00000524943.2	+	1	743	c.743C>T	c.(742-744)aCc>aTc	p.T248I	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5					Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			CCCAGCCTGACCATCCTCAGC	0.448000													Ovarian(169;523 1969 8640 31295 51256)											0							SO:0001583	missense			ENST00000524943.2	0	1	hg19																																																																																					TCGA-US-A776-01A-13D-A33T-08	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387283.2	1	0	0	132	363	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	132	361	0	95	2	0	0	0	0	0	0		-20.000000	1	1	121234	1	37	1	0	2	2	1.554261	1	0.890000	1.980000	0.890000	0.600000	5.100000e-01	1.000000	0.600000	0.672737	0.600000	0	5.500000e-01	1
ANO5	203859	broad.mit.edu	37	11	22297720	22297720	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:22297720A>C	ENST00000324559.8	+	21	2812	c.2495A>C	c.(2494-2496)aAg>aCg	p.K832T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5			63					CTTGCTGCCAAGATGACCTTC	0.363000																								0							SO:0001583	missense			ENST00000324559.8	1	1	hg19	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905181	0.72868	.	.	ENSG00000171714	ENST00000324559	T	0.63580	-0.05	4.96	1.35	0.21983	.	0.222920	0.52532	D	0.000063	T	0.70193	0.3196	M	0.62088	1.915	0.51767	D	0.999933	P	0.50617	0.937	P	0.61940	0.896	T	0.68352	-0.5431	10	0.87932	D	0	.	8.7096	0.34376	0.7783:0.0:0.2217:0.0	.	832	Q75V66	ANO5_HUMAN	T	832	ENSP00000315371:K832T	ENSP00000315371:K832T	K	+	2	0	ANO5	22254296	1.000000	0.71417	0.984000	0.44739	0.858000	0.48976	6.261000	0.72509	0.042000	0.15717	-0.451000	0.05528	AAG		TCGA-US-A776-01A-13D-A33T-08	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	1	0	0	26	320	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	26	318	0	44	2	0	0	0	0	0	0		-8.383615	1	1	0	0		1	1	2	3	2.796440	1	0.890000	1.980000	0.919930	0.240000	1.500000e-01	1.000000	0.230000	0.335096	0.240000	0	1.900000e-01	3.200000e-01
PRDM11	56981	broad.mit.edu	37	11	45246344	45246344	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:45246344C>T	ENST00000530656.1	+	7	1421	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.P440L|PRDM11_ENST00000263765.4_Missense_Mutation_p.P474L			Q9NQV5	PRD11_HUMAN	PR domain containing 11			26					CCTGAGCCCCCCGTATTGCCA	0.522000													NSCLC(118;1511 1736 6472 36603 43224)											0							SO:0001583	missense			ENST00000530656.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	18.08	3.544382	0.65198	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.31769	1.48;1.48;1.52	5.68	5.68	0.88126	.	0.104471	0.43110	D	0.000612	T	0.24275	0.0588	N	0.24115	0.695	0.37913	D	0.931428	B	0.26744	0.158	B	0.24848	0.056	T	0.11641	-1.0579	10	0.87932	D	0	-14.4702	15.2956	0.73906	0.0:0.8606:0.1394:0.0	.	474	Q9NQV5	PRD11_HUMAN	L	474;474;440	ENSP00000263765:P474L;ENSP00000435976:P474L;ENSP00000394314:P440L	ENSP00000263765:P474L	P	+	2	0	PRDM11	45202920	0.957000	0.32711	0.958000	0.39756	0.947000	0.59692	4.313000	0.59160	2.689000	0.91719	0.655000	0.94253	CCC		TCGA-US-A776-01A-13D-A33T-08	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	0	0	0	19	1049	0	152	0	3.658180e-04	0	2	0	152	2		0	0	0	0	0	2	1	0.999989	19	1038	0	151	2	0	0	0	0	0	0		-2.215476	0	1	121412	1	32	1	1	2	3	2.796440	1	0.890000	1.980000	0.919930	0.050000	2.000000e-02	1.000000	0.060000	0.177181	0.050000	0	4.000000e-02	9.000000e-02
OR8I2	120586	broad.mit.edu	37	11	55860975	55860975	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:55860975C>A	ENST00000302124.2	+	1	223	c.192C>A	c.(190-192)agC>agA	p.S64R		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2			53	Esophageal squamous(21;0.00693)				TTTTCCTGAGCAATTTAGCAT	0.393000																								0							SO:0001583	missense			ENST00000302124.2	1	1	hg19	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495481	0.12762	.	.	ENSG00000172154	ENST00000302124	T	0.01099	5.34	4.5	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	U	0.000185	T	0.02571	0.0078	L	0.49699	1.58	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.38457	-0.9660	10	0.62326	D	0.03	-13.639	11.3591	0.49633	0.0:0.9093:0.0:0.0906	.	64	Q8N0Y5	OR8I2_HUMAN	R	64	ENSP00000303864:S64R	ENSP00000303864:S64R	S	+	3	2	OR8I2	55617551	0.000000	0.05858	0.711000	0.30485	0.023000	0.10783	-3.398000	0.00484	2.225000	0.72522	0.440000	0.28878	AGC		TCGA-US-A776-01A-13D-A33T-08	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	15	558	0	160		0	0	0	0	160	2		0	0	0	0	0	2	1	0.999855	15	548	0	160	2	0	0	0	0	0	0		-2.745404	1	1	0	0		1	0	1	1	1.171060	1	0.890000	1.980000	0.801802	0.020000	1.000000e-02	0.050000	0.030000	0.034685	0.020000	0	2.000000e-02	4.000000e-02
OR52E4	390081	broad.mit.edu	37	11	5905894	5905894	+	Silent	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:5905894C>A	ENST00000316987.2	+	1	394	c.372C>A	c.(370-372)cgC>cgA	p.R124R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4			30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)			CTTATGACCGCTTTGTTGCCA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000316987.2	1	1	hg19	CCDS31401.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	0	0	0	27	660	1	72		0	0	0	1	72	2		0	0	0	0	0	2	0	0.434772	27	656	1	70	29	0	0	0	0	0	0		-19.999960	1	1	0	0		1	1	2	3	2.796440	1	0.890000	1.980000	0.919930	0.120000	7.000000e-02	1.000000	0.120000	0.235426	0.120000	0	9.000000e-02	1.700000e-01
LRRC32	2615	broad.mit.edu	37	11	76371472	76371472	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:76371472G>A	ENST00000407242.2	-	3	1407	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.R389W|LRRC32_ENST00000404995.1_Missense_Mutation_p.R389W	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32			31					AGCAGCGTCCGCAGAGACCCC	0.652000																								0							SO:0001583	missense			ENST00000407242.2	1	1	hg19	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	8.836	0.941139	0.18281	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.59083	0.29;0.29;0.29	4.27	1.12	0.20585	.	0.538685	0.19466	N	0.113595	T	0.70649	0.3248	M	0.80847	2.515	0.09310	N	1	D	0.71674	0.998	P	0.57846	0.828	T	0.65853	-0.6067	10	0.56958	D	0.05	.	13.4636	0.61241	0.0:0.0:0.4464:0.5536	.	389	Q14392	LRC32_HUMAN	W	389	ENSP00000260061:R389W;ENSP00000384126:R389W;ENSP00000385766:R389W	ENSP00000260061:R389W	R	-	1	2	LRRC32	76049120	0.000000	0.05858	0.121000	0.21740	0.134000	0.20937	0.103000	0.15292	0.054000	0.16065	-0.500000	0.04577	CGG		TCGA-US-A776-01A-13D-A33T-08	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	1	0	1	20	79	0	29	0	8.559142e-01	1	15	0	29	2		0	0	0	0	0	2	1	0.999998	20	79	0	29	2	0	0	0	0	0	0		-20.000000	1	1	121394	9	36	1	0	2	2	1.534134	1	0.890000	1.980000	0.890000	0.480000	3.000000e-01	1.000000	0.460000	0.564959	0.480000	0	3.800000e-01	1
NLRP10	338322	broad.mit.edu	37	11	7982120	7982120	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:7982120G>T	ENST00000328600.2	-	2	1200	c.1039C>A	c.(1039-1041)Ctc>Atc	p.L347I		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10			58					GCTTTGTAGAGAATGTCATTT	0.512000																								0							SO:0001583	missense			ENST00000328600.2	1	1	hg19	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875656	0.33162	.	.	ENSG00000182261	ENST00000328600	T	0.80480	-1.38	5.11	1.99	0.26369	NACHT nucleoside triphosphatase (1);	0.000000	0.34986	N	0.003539	D	0.87553	0.6206	M	0.90425	3.115	0.18873	N	0.999986	D	0.71674	0.998	D	0.64144	0.922	T	0.77789	-0.2456	10	0.87932	D	0	.	4.2127	0.10519	0.0913:0.1563:0.5919:0.1605	.	347	Q86W26	NAL10_HUMAN	I	347	ENSP00000327763:L347I	ENSP00000327763:L347I	L	-	1	0	NLRP10	7938696	0.995000	0.38212	0.564000	0.28396	0.002000	0.02628	3.441000	0.52893	0.653000	0.30826	-0.176000	0.13171	CTC		TCGA-US-A776-01A-13D-A33T-08	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	1	0	1	62	540	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	62	536	0	70	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.796440	1	0.890000	1.980000	0.919930	0.320000	2.400000e-01	1.000000	0.310000	0.407219	0.320000	0	2.800000e-01	3.900000e-01
FOLH1B	219595	broad.mit.edu	37	11	89405142	89405142	+	RNA	SNP	C	C	T	rs3018757	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr11:89405142C>T	ENST00000532352.1	+	0	1082							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B			48					GTTCATGAAACTGTGAGGAGC	0.433000																								0											ENST00000532352.1	0	1	hg19																																																																																					TCGA-US-A776-01A-13D-A33T-08	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	0	0	0	5	312	1	66	1	3.913603e-03	5	0	1	66	2		0	0	0	0	0	2	0	0.011202	5	309	1	65	16	0	0	0	0	0	0		-1.814586	0	0	121412	1	33	1	0	0	0	1.715821	0	0.890000	1.980000	0.869016	0.020000	0	0.070000	0.030000	0.035201	0.020000	0	1.000000e-02	5.000000e-02
ANO4	121601	broad.mit.edu	37	12	101336205	101336205	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:101336205G>A	ENST00000392977.3	+	5	558	c.348G>A	c.(346-348)aaG>aaA	p.K116K	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_Silent_p.K282K|ANO4_ENST00000392979.3_Silent_p.K81K			Q32M45	ANO4_HUMAN	anoctamin 4			78					GAGATGGAAAGTGTCGAATTG	0.388000										HNSCC(74;0.22)														0							SO:0001819	synonymous_variant			ENST00000392977.3	1	1	hg19																																																																																					TCGA-US-A776-01A-13D-A33T-08	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	0	0	1	284	330	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1.000000	280	328	0	91	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.833676	1	0.890000	1.980000	0.879254	0.940000	8.600000e-01	1.000000	1.000000	0.944930	0.940000	1	9.000000e-01	9.900000e-01
KDM2B	84678	broad.mit.edu	37	12	121878657	121878657	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:121878657A>G	ENST00000377071.4	-	21	3644	c.3572T>C	c.(3571-3573)aTg>aCg	p.M1191T	KDM2B_ENST00000542973.1_Missense_Mutation_p.M559T|KDM2B_ENST00000377069.4_Missense_Mutation_p.M1122T|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B			19					GAGATCCCGCATCTGGGCATC	0.632000																								0							SO:0001583	missense			ENST00000377071.4	1	1	hg19	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.587506	0.86851	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.29655	1.56;1.56;1.56	5.92	5.92	0.95590	.	0.093076	0.46758	D	0.000261	T	0.41743	0.1172	L	0.44542	1.39	0.80722	D	1	P;D;D;P	0.59357	0.936;0.985;0.985;0.936	P;P;P;P	0.53518	0.642;0.728;0.535;0.642	T	0.28713	-1.0035	10	0.87932	D	0	-38.4419	16.3648	0.83312	1.0:0.0:0.0:0.0	.	631;1191;1122;634	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	T	1179;559;1122;1191;634;1194	ENSP00000437821:M559T;ENSP00000366269:M1122T;ENSP00000366271:M1191T	ENSP00000261824:M1194T	M	-	2	0	KDM2B	120363040	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	ATG		TCGA-US-A776-01A-13D-A33T-08	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	1	0	1	61	256	0	70	1	9.692672e-01	8	18	0	70	2		0	0	0	0	0	2	1	1.000000	60	253	0	69	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.833676	1	0.890000	1.980000	0.879254	0.390000	3.000000e-01	0.480000	0.390000	0.397714	0.390000	0	3.400000e-01	4.400000e-01
TMEM120B	144404	broad.mit.edu	37	12	122213529	122213529	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:122213529G>A	ENST00000449592.2	+	12	1022	c.921G>A	c.(919-921)gcG>gcA	p.A307A	TMEM120B_ENST00000540377.1_Missense_Mutation_p.V11I	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B			11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TCGTACTGGCGTTCACCTTCC	0.607000																								0							SO:0001819	synonymous_variant			ENST00000449592.2	1	1	hg19	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290580	0.40494	.	.	ENSG00000188735	ENST00000540377	.	.	.	5.38	-6.73	0.01749	.	.	.	.	.	T	0.24470	0.0593	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41106	-0.9527	5	0.87932	D	0	-23.7117	0.8756	0.01223	0.2122:0.259:0.1413:0.3874	.	.	.	.	I	11	.	ENSP00000446159:V11I	V	+	1	0	TMEM120B	120697912	0.000000	0.05858	0.755000	0.31263	0.977000	0.68977	-5.920000	0.00090	-0.965000	0.03591	0.655000	0.94253	GTT		TCGA-US-A776-01A-13D-A33T-08	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	0	0	1	116	154	0	41	1	9.999996e-01	10	24	0	41	2		0	0	0	0	0	2	1	1.000000	115	154	0	40	2	0	0	0	0	0	0		-20.000000	1	1	121036	1	32	1	0	0	0	1.833676	1	0.890000	1.980000	0.879254	0.870000	7.500000e-01	0.990000	0.880000	0.879507	0.870000	1	8.100000e-01	9.400000e-01
GYS2	2998	broad.mit.edu	37	12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)			48					ATCTGGAGAACGGAACCGCCT	0.418000													Colon(149;9 1820 3690 10544 50424)											0							SO:0001583	missense			ENST00000261195.2	1	1	hg19	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938371	0.73557	2.27E-4	0.0	ENSG00000111713	ENST00000261195	T	0.65549	-0.16	5.1	4.21	0.49690	.	0.593520	0.18354	N	0.143787	T	0.68339	0.2990	L	0.35723	1.085	0.47374	D	0.999406	D	0.54601	0.967	P	0.61275	0.886	T	0.70916	-0.4742	10	0.72032	D	0.01	-1.7161	13.8336	0.63395	0.0:0.926:0.0:0.074	.	558	P54840	GYS2_HUMAN	H	558	ENSP00000261195:R558H	ENSP00000261195:R558H	R	-	2	0	GYS2	21584747	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	3.026000	0.49689	1.369000	0.46134	0.650000	0.86243	CGT		TCGA-US-A776-01A-13D-A33T-08	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	1	0	1	83	465	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	83	461	0	97	2	0	0	0	0	0	0		-20.000000	1	1	121412	8	41	1	0	0	0	1.805225	1	0.890000	1.980000	0.876847	0.300000	2.400000e-01	0.370000	0.300000	0.306476	0.300000	0	2.600000e-01	3.400000e-01
RAD51AP1	10635	broad.mit.edu	37	12	4665646	4665646	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:4665646G>C	ENST00000352618.4	+	8	899	c.849G>C	c.(847-849)aaG>aaC	p.K283N	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.K165N|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.K300N|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000544931.1_Intron	NM_006479.4	NP_006470.1			RAD51 associated protein 1			13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		CTGAAAGCAAGAAACCTAAAT	0.393000																								0							SO:0001583	missense			ENST00000352618.4	1	1	hg19	CCDS8529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.03|16.03	3.007313|3.007313	0.54361|0.54361	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000536117|ENST00000543041;ENST00000228843;ENST00000352618	.|T;T;T	.|0.54071	.|1.02;0.59;0.59	4.51|4.51	3.58|3.58	0.41010|0.41010	.|.	.|0.464142	.|0.23125	.|N	.|0.051651	T|T	0.57475|0.57475	0.2056|0.2056	M|M	0.61703|0.61703	1.905|1.905	0.23425|0.23425	N|N	0.997702|0.997702	.|D;P;P;D	.|0.53462	.|0.96;0.728;0.944;0.959	.|P;B;P;P	.|0.52957	.|0.599;0.334;0.714;0.714	T|T	0.52011|0.52011	-0.8632|-0.8632	5|10	.|0.87932	.|D	.|0	-2.0346|-2.0346	7.5909|7.5909	0.28021|0.28021	0.1221:0.0:0.8779:0.0|0.1221:0.0:0.8779:0.0	.|.	.|165;300;300;283	.|B4DUS5;Q96B01;A8K313;Q96B01-2	.|.;R51A1_HUMAN;.;.	Q|N	252|165;300;283	.|ENSP00000439960:K165N;ENSP00000228843:K300N;ENSP00000309479:K283N	.|ENSP00000228843:K300N	E|K	+|+	1|3	0|2	RAD51AP1|RAD51AP1	4535907|4535907	0.982000|0.982000	0.34865|0.34865	0.412000|0.412000	0.26496|0.26496	0.894000|0.894000	0.52154|0.52154	1.452000|1.452000	0.35156|0.35156	1.054000|1.054000	0.40438|0.40438	0.591000|0.591000	0.81541|0.81541	GAA|AAG		TCGA-US-A776-01A-13D-A33T-08	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	1	0	0	131	1416	0	64	1	9.994724e-01	8	108	0	64	2		0	0	0	0	0	2	1	1.000000	131	1404	0	64	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	7	8	6.767067	1	0.890000	1.980000	0.968175	0.660000	5.400000e-01	1.000000	0.670000	0.683613	0.660000	0	5.900000e-01	7.400000e-01
GNB3	2784	broad.mit.edu	37	12	6952186	6952186	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:6952186C>T	ENST00000229264.3	+	5	554	c.149C>T	c.(148-150)aCg>aTg	p.T50M	GNB3_ENST00000435982.2_Missense_Mutation_p.T50M|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3			20					ACGCGGCGGACGTTAAGGGGA	0.607000																								0							SO:0001583	missense			ENST00000229264.3	1	1	hg19	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110849	0.94292	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.26	5.26	0.73747	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.964;0.981	T	0.80944	-0.1156	10	0.66056	D	0.02	-16.8247	18.8518	0.92235	0.0:1.0:0.0:0.0	.	50;50	E9PCP0;P16520	.;GBB3_HUMAN	M	50	ENSP00000229264:T50M;ENSP00000442002:T50M;ENSP00000414734:T50M;ENSP00000445967:T50M	ENSP00000229264:T50M	T	+	2	0	GNB3	6822447	1.000000	0.71417	0.944000	0.38274	0.965000	0.64279	7.818000	0.86416	2.459000	0.83118	0.491000	0.48974	ACG		TCGA-US-A776-01A-13D-A33T-08	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	1	0	0	46	1003	0	48	0	1.280899e-01	0	14	0	48	2		0	0	0	0	0	2	1	1.000000	47	986	0	48	2	0	0	0	0	0	0		-20.000000	1	1	121326	2	30	1	1	7	8	6.767067	1	0.890000	1.980000	0.968175	0.340000	2.300000e-01	1.000000	0.370000	0.389145	0.340000	0	2.800000e-01	4.200000e-01
LRRC23	10233	broad.mit.edu	37	12	7016602	7016602	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:7016602T>A	ENST00000007969.8	+	5	834	c.614T>A	c.(613-615)cTc>cAc	p.L205H	LRRC23_ENST00000443597.2_Missense_Mutation_p.L205H|LRRC23_ENST00000433346.1_Missense_Mutation_p.L205H|LRRC23_ENST00000436789.1_Missense_Mutation_p.L205H|LRRC23_ENST00000323702.5_Missense_Mutation_p.L205H|LRRC23_ENST00000429740.1_Intron	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23			13					CTGAAGAACCTCTACCTGGTA	0.562000																								0							SO:0001583	missense			ENST00000007969.8	0	1	hg19	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325445	0.81580	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000436789	T;T;T;T;T	0.62364	0.59;0.03;0.37;0.03;1.11	5.59	5.59	0.84812	.	.	.	.	.	D	0.87398	0.6167	H	0.98542	4.26	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.92330	0.5873	9	0.87932	D	0	-12.7044	15.7619	0.78091	0.0:0.0:0.0:1.0	.	205;205;205;205;205	C9JEW3;A8K8K2;Q53EV4-2;Q53EV4;C9JKE8	.;.;.;LRC23_HUMAN;.	H	205	ENSP00000402554:L205H;ENSP00000007969:L205H;ENSP00000317464:L205H;ENSP00000390932:L205H;ENSP00000396049:L205H	ENSP00000007969:L205H	L	+	2	0	LRRC23	6886863	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.624000	0.74243	2.120000	0.65058	0.379000	0.24179	CTC		TCGA-US-A776-01A-13D-A33T-08	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	0	0	0	28	1505	0	67	1	9.420829e-01	7	247	0	67	2		0	0	0	0	0	2	1	1.000000	28	1497	0	67	2	0	0	0	0	0	0		-16.132190	1	1	0	0		1	1	7	8	6.767067	1	0.890000	1.980000	0.968175	0.140000	8.000000e-02	1.000000	0.150000	0.206266	0.140000	0	1.100000e-01	1.900000e-01
LIN7A	8825	broad.mit.edu	37	12	81205274	81205274	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr12:81205274C>T	ENST00000552864.1	-	5	874	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)			15					GTGTTtgttgctgctgctgct	0.408000																								0							SO:0001819	synonymous_variant			ENST00000552864.1	0	1	hg19	CCDS9021.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1	0	0	0	6	58	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.967457	6	58	0	9	2	0	0	0	0	0	0		-2.778149	1	1	0	0		1	0	0	0	1.833676	1	0.890000	1.980000	0.879254	0.200000	8.000000e-02	0.370000	0.190000	0.216668	0.200000	0	1.300000e-01	2.900000e-01
ATP12A	479	broad.mit.edu	37	13	25264838	25264838	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25264838T>A	ENST00000381946.3	+	7	945	c.778T>A	c.(778-780)Tat>Aat	p.Y260N	ATP12A_ENST00000218548.6_Missense_Mutation_p.Y260N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide			74		Lung SC(185;0.0225)|Breast(139;0.077)			CATCTGCTTCTATTCCACAAC	0.547000													Pancreas(156;1582 1935 18898 22665 26498)											0							SO:0001583	missense			ENST00000381946.3	1	1	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861042	0.91433	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90563	-2.69;-2.69	5.19	5.19	0.71726	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.085871	0.50627	D	0.000110	D	0.89670	0.6782	N	0.16266	0.395	0.58432	D	0.999999	D;D	0.62365	0.966;0.991	P;P	0.61533	0.876;0.89	D	0.91248	0.5027	10	0.87932	D	0	.	13.0401	0.58895	0.0:0.0:0.0:1.0	.	260;260	P54707-2;P54707	.;AT12A_HUMAN	N	260	ENSP00000218548:Y260N;ENSP00000371372:Y260N	ENSP00000218548:Y260N	Y	+	1	0	ATP12A	24162838	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.606000	0.82863	2.173000	0.68751	0.533000	0.62120	TAT		TCGA-US-A776-01A-13D-A33T-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	0	55	1100	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1.000000	55	1086	0	174	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	2.025231	1	0.890000	1.980000	0.890000	0.100000	7.000000e-02	1.000000	0.100000	0.226837	0.100000	0	8.000000e-02	1.400000e-01
ATP12A	479	broad.mit.edu	37	13	25272866	25272866	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25272866G>A	ENST00000381946.3	+	12	1750	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R534H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	p.R528H(1)		74		Lung SC(185;0.0225)|Breast(139;0.077)			GCCCCTGAGCGCATCCTAGAG	0.572000													Pancreas(156;1582 1935 18898 22665 26498)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000381946.3	1	1	hg19	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572470	0.65765	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.80480	-1.38;-1.38	5.72	4.88	0.63580	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	D	0.000006	D	0.88190	0.6370	M	0.88450	2.955	0.58432	D	0.999999	D;D	0.71674	0.998;0.988	P;P	0.55055	0.767;0.598	D	0.90082	0.4171	10	0.87932	D	0	.	12.5302	0.56111	0.0806:0.0:0.9194:0.0	.	534;528	P54707-2;P54707	.;AT12A_HUMAN	H	534;528	ENSP00000218548:R534H;ENSP00000371372:R528H	ENSP00000218548:R534H	R	+	2	0	ATP12A	24170866	1.000000	0.71417	0.985000	0.45067	0.124000	0.20399	7.849000	0.86908	1.430000	0.47334	0.655000	0.94253	CGC		TCGA-US-A776-01A-13D-A33T-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	1	289	262	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1.000000	288	258	0	96	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	2.025231	1	0.890000	1.980000	0.890000	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
CENPJ	55835	broad.mit.edu	37	13	25480968	25480968	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr13:25480968T>C	ENST00000381884.4	-	7	1393	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	CENPJ_ENST00000545981.1_Missense_Mutation_p.N403S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J			47		Lung SC(185;0.0225)|Breast(139;0.0602)			AGTGCTCTGGTTAGTCACTAG	0.398000																								0							SO:0001583	missense			ENST00000381884.4	1	1	hg19	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.471635	0.01044	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17054	2.3;2.3	5.09	-1.61	0.08399	.	0.965315	0.08613	N	0.919710	T	0.12475	0.0303	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.43048	-0.9415	10	0.12103	T	0.63	.	6.8225	0.23864	0.0:0.1472:0.4148:0.438	.	403	Q9HC77	CENPJ_HUMAN	S	403	ENSP00000371308:N403S;ENSP00000441090:N403S	ENSP00000371308:N403S	N	-	2	0	CENPJ	24378968	0.017000	0.18338	0.001000	0.08648	0.629000	0.37895	0.236000	0.17967	-0.400000	0.07656	0.459000	0.35465	AAC		TCGA-US-A776-01A-13D-A33T-08	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	1	0	1	44	386	0	64	0	8.861790e-02	0	5	0	64	2		0	0	0	0	0	2	1	1.000000	44	383	0	64	2	0	0	0	0	0	0		-15.288390	1	1	0	0		1	0	2	2	2.025231	1	0.890000	1.980000	0.890000	0.230000	1.600000e-01	1.000000	0.230000	0.335503	0.230000	0	1.900000e-01	3.000000e-01
ADSSL1	122622	broad.mit.edu	37	14	105207231	105207231	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105207231A>G	ENST00000330877.2	+	7	725	c.640A>G	c.(640-642)Att>Gtt	p.I214V	ADSSL1_ENST00000332972.5_Missense_Mutation_p.I257V	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1			11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)		GGAAATAGACATTGAAGGCCA	0.582000																								0							SO:0001583	missense			ENST00000330877.2	1	1	hg19	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.055552	0.00390	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.38240	1.15;1.15	4.77	-2.33	0.06724	.	0.405998	0.24891	N	0.034766	T	0.10252	0.0251	N	0.02169	-0.655	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33085	-0.9882	10	0.02654	T	1	-2.6136	10.9376	0.47253	0.8333:0.0:0.1667:0.0	.	257;214	Q8N142-2;Q8N142	.;PURA1_HUMAN	V	214;257	ENSP00000331260:I214V;ENSP00000333019:I257V	ENSP00000331260:I214V	I	+	1	0	ADSSL1	104278276	0.001000	0.12720	0.000000	0.03702	0.166000	0.22503	0.552000	0.23376	-0.770000	0.04614	-0.290000	0.09829	ATT		TCGA-US-A776-01A-13D-A33T-08	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1	0	0	0	45	1075	1	206	1	4.887126e-01	3	37	1	206	2		0	0	0	0	0	2	1	0.999706	44	1067	1	203	19	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.288684	1	0.890000	1.980000	0.901799	0.100000	6.000000e-02	1.000000	0.100000	0.272683	0.100000	0	8.000000e-02	1
PLD4	122618	broad.mit.edu	37	14	105396428	105396428	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:105396428C>T	ENST00000392593.4	+	6	871	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	PLD4_ENST00000540372.1_Missense_Mutation_p.R242W|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4			13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		CATGGACTGGCGGTCTCTGAC	0.607000																								0							SO:0001583	missense			ENST00000392593.4	1	1	hg19	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472839	0.63737	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25250	2.22;2.22;1.81	3.87	1.82	0.25136	Phospholipase D/Transphosphatidylase (3);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62291	-0.6885	10	0.87932	D	0	-0.0397	5.2432	0.15483	0.4031:0.4845:0.0:0.1124	.	242;235	F5H2B5;Q96BZ4	.;PLD4_HUMAN	W	242;235;233	ENSP00000438677:R242W;ENSP00000376372:R235W;ENSP00000451278:R233W	ENSP00000376372:R235W	R	+	1	2	PLD4	104467473	1.000000	0.71417	0.994000	0.49952	0.923000	0.55619	1.036000	0.30228	0.735000	0.32537	0.561000	0.74099	CGG		TCGA-US-A776-01A-13D-A33T-08	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	1	0	0	16	273	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	0.999934	16	270	0	42	2	0	0	0	0	0	0		-2.842990	1	1	121026	1	27	1	1	2	3	2.288684	1	0.890000	1.980000	0.901799	0.150000	8.000000e-02	1.000000	0.140000	0.308276	0.150000	0	1.100000e-01	1
SALL2	6297	broad.mit.edu	37	14	21993764	21993764	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:21993764G>A	ENST00000327430.3	-	2	392	c.98C>T	c.(97-99)cCc>cTc	p.P33L	AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Missense_Mutation_p.P31L|SALL2_ENST00000317492.5_Missense_Mutation_p.P33L|SALL2_ENST00000450879.2_Missense_Mutation_p.P31L	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2			43	all_cancers(95;0.000662)				ACAGACTTGGGGGTGATCCTC	0.532000																								0							SO:0001583	missense			ENST00000327430.3	0	1	hg19	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.416205|3.416205	0.62511|0.62511	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000327430;ENST00000317492;ENST00000538754;ENST00000450879;ENST00000541876;ENST00000537235|ENST00000546363	T;T;T;T;T|T	0.37058|0.04049	3.68;1.24;1.22;3.65;1.34|3.72	4.01|4.01	2.17|2.17	0.27698|0.27698	.|.	0.000000|0.000000	0.38605|0.38605	N|N	0.001629|0.001629	T|T	0.07143|0.07143	0.0181|0.0181	L|L	0.50333|0.50333	1.59|1.59	0.35240|0.35240	D|D	0.777695|0.777695	B;B;B;D;B;D|.	0.89917|.	0.002;0.002;0.0;1.0;0.004;0.982|.	B;B;B;D;B;P|.	0.87578|.	0.001;0.001;0.001;0.998;0.004;0.731|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|8	0.62326|0.33940	D|T	0.03|0.23	-25.3036|-25.3036	5.8958|5.8958	0.18939|0.18939	0.3358:0.0:0.6641:0.0|0.3358:0.0:0.6641:0.0	.|.	31;31;31;33;31;33|.	B4DK65;E7EW59;B4DFD9;F5GY43;Q8N656;Q9Y467|.	.;.;.;.;.;SALL2_HUMAN|.	L|S	33;33;31;31;33;31|27	ENSP00000333537:P33L;ENSP00000320536:P33L;ENSP00000445916:P31L;ENSP00000396773:P31L;ENSP00000438493:P31L|ENSP00000440054:P27S	ENSP00000320536:P33L|ENSP00000440054:P27S	P|P	-|-	2|1	0|0	SALL2|SALL2	21063604|21063604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	2.258000|2.258000	0.43249|0.43249	0.375000|0.375000	0.24679|0.24679	-0.259000|-0.259000	0.10710|0.10710	CCC|CCC		TCGA-US-A776-01A-13D-A33T-08	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	0	0	0	4	263	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	0.884723	4	256	0	51	2	0	0	0	0	0	0		-4.180214	1	1	121324	1	28	1	1	2	3	2.060376	0	0.890000	1.980000	0.890970	0.030000	0	0.090000	0.040000	0.051133	0.030000	0	1.000000e-02	6.000000e-02
AKAP6	9472	broad.mit.edu	37	14	33147660	33147660	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:33147660C>G	ENST00000280979.4	+	8	3044	c.2874C>G	c.(2872-2874)agC>agG	p.S958R	AKAP6_ENST00000557354.1_Missense_Mutation_p.S958R|AKAP6_ENST00000557272.1_Missense_Mutation_p.S958R	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6			122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)		CAGTGGGAAGCAATGGGTAGG	0.403000													Melanoma(49;821 1200 7288 13647 42351)											0							SO:0001583	missense			ENST00000280979.4	1	1	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139851	0.56936	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.20463	3.39;2.07;2.12	5.3	4.33	0.51752	.	0.185752	0.48767	D	0.000163	T	0.14056	0.0340	N	0.14661	0.345	0.39331	D	0.965421	P;P	0.50710	0.612;0.938	B;P	0.48524	0.261;0.58	T	0.10730	-1.0617	10	0.54805	T	0.06	-4.9967	2.9876	0.05973	0.0:0.5085:0.0:0.4915	.	958;958	A7E242;Q13023	.;AKAP6_HUMAN	R	958	ENSP00000280979:S958R;ENSP00000450531:S958R;ENSP00000451247:S958R	ENSP00000280979:S958R	S	+	3	2	AKAP6	32217411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.166000	0.31834	1.142000	0.42291	0.585000	0.79938	AGC		TCGA-US-A776-01A-13D-A33T-08	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	1	0	0	27	432	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	1.000000	27	429	0	72	2	0	0	0	0	0	0		-6.463638	1	1	0	0		1	1	2	3	2.060376	0	0.890000	1.980000	0.890970	0.130000	8.000000e-02	0.200000	0.140000	0.146111	0.130000	0	1.000000e-01	1.600000e-01
RGS6	9628	broad.mit.edu	37	14	72939637	72939637	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:72939637C>T	ENST00000553530.1	+	9	801	c.594C>T	c.(592-594)gcC>gcT	p.A198A	RGS6_ENST00000554782.1_Silent_p.A59A|RGS6_ENST00000404301.2_Silent_p.A198A|RGS6_ENST00000343854.6_Silent_p.A198A|RGS6_ENST00000355512.6_Silent_p.A198A|RGS6_ENST00000402788.2_Silent_p.A198A|RGS6_ENST00000406236.4_Silent_p.A198A|RGS6_ENST00000555571.1_Silent_p.A198A|RGS6_ENST00000556437.1_Silent_p.A198A|RGS6_ENST00000434263.2_Silent_p.A129A|RGS6_ENST00000407322.4_Silent_p.A198A|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000553525.1_Silent_p.A198A	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6			33					AAGAACGAGCCTTTTGGGATG	0.368000													Ovarian(143;1926 2468 21071 48641)											0							SO:0001819	synonymous_variant			ENST00000553530.1	1	1	hg19	CCDS9808.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2	1	0	0	44	891	0	172		0	0	0	0	172	2		0	0	0	0	0	2	1	1.000000	43	885	0	170	2	0	0	0	0	0	0		-4.909552	1	1	0	0		1	1	2	3	2.060376	0	0.890000	1.980000	0.890970	0.100000	6.000000e-02	0.150000	0.100000	0.117598	0.100000	0	8.000000e-02	1.300000e-01
MLH3	27030	broad.mit.edu	37	14	75513333	75513333	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr14:75513333A>G	ENST00000556740.1	-	1	3061	c.3026T>C	c.(3025-3027)gTa>gCa	p.V1009A	MLH3_ENST00000238662.7_Missense_Mutation_p.V1009A|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.V4A|MLH3_ENST00000355774.2_Missense_Mutation_p.V1009A|MLH3_ENST00000556257.1_Missense_Mutation_p.V1009A|MLH3_ENST00000555671.1_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3			44					GGCATCTTCTACCGGATTCAT	0.398000								Mismatch excision repair (MMR)																0							SO:0001583	missense			ENST00000556740.1	1	1	hg19	CCDS32123.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.500|6.500	0.460452|0.460452	0.12342|0.12342	.|.	.|.	ENSG00000119684|ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740;ENST00000544985|ENST00000553713	T;T;T;T;T|.	0.81247|.	-1.42;-1.42;-1.47;-1.42;0.25|.	5.19|5.19	-5.73|-5.73	0.02398|0.02398	.|.	1.706310|.	0.02897|.	N|.	0.134820|.	T|.	0.34861|.	0.0912|.	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.005;0.004|.	B;B|.	0.11329|.	0.006;0.003|.	T|.	0.39941|.	-0.9589|.	10|.	0.27785|.	T|.	0.31|.	2.2606|2.2606	1.3007|1.3007	0.02078|0.02078	0.3215:0.3316:0.1286:0.2183|0.3215:0.3316:0.1286:0.2183	.|.	1009;1009|.	Q9UHC1-2;Q9UHC1|.	.;MLH3_HUMAN|.	A|Q	1009;1009;1009;1009;4|66	ENSP00000348020:V1009A;ENSP00000238662:V1009A;ENSP00000451540:V1009A;ENSP00000452316:V1009A;ENSP00000441371:V4A|.	ENSP00000238662:V1009A|.	V|X	-|-	2|1	0|0	MLH3|MLH3	74583086|74583086	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.147000|0.147000	0.16202|0.16202	-1.130000|-1.130000	0.02914|0.02914	0.528000|0.528000	0.53228|0.53228	GTA|TAG		TCGA-US-A776-01A-13D-A33T-08	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	1	0	1	118	557	0	119	1	8.681030e-01	6	13	0	119	2		0	0	0	0	0	2	1	1.000000	114	554	0	119	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.060376	0	0.890000	1.980000	0.890970	0.390000	3.200000e-01	0.470000	0.400000	0.404338	0.390000	0	3.500000e-01	4.300000e-01
CKMT1B	1159	broad.mit.edu	37	15	43888718	43888718	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:43888718G>C	ENST00000441322.1	+	6	1225	c.865G>C	c.(865-867)Ggc>Cgc	p.G289R	CKMT1B_ENST00000300283.6_Missense_Mutation_p.G289R|CKMT1B_ENST00000450086.2_Missense_Mutation_p.G248R|CKMT1B_ENST00000413657.2_Missense_Mutation_p.G152R			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B			5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		Creatine(DB00148)	ATTCTGCCGAGGCCTCAAAGA	0.443000																								0							SO:0001583	missense			ENST00000441322.1	1	1	hg19	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918262	0.73098	.	.	ENSG00000237289	ENST00000300283;ENST00000450086;ENST00000441322;ENST00000413657;ENST00000438947	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.49	4.49	0.54785	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.045722	0.85682	D	0.000000	T	0.51381	0.1671	H	0.95645	3.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;0.999;0.997;1.0	T	0.68746	-0.5327	10	0.87932	D	0	-1.777	17.7765	0.88510	0.0:0.0:1.0:0.0	.	289;248;248;227;320;130;289	F8WCN3;E9PCP8;B4DH34;B4DGR9;P12532-2;B4DJW9;P12532	.;.;.;.;.;.;KCRU_HUMAN	R	289;248;289;152;322	ENSP00000300283:G289R;ENSP00000389267:G248R;ENSP00000413255:G289R;ENSP00000390428:G152R	ENSP00000300283:G289R	G	+	1	0	CKMT1B	41676010	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.642000	0.98461	2.485000	0.83878	0.485000	0.47835	GGC		TCGA-US-A776-01A-13D-A33T-08	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	1	0	0	205	45	0	66	1	9.999990e-01	11	0	0	66	2		0	0	0	0	0	2	1	1.000000	202	44	0	93	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.297877	1	0.890000	1.980000	0.801802	0.980000	9.300000e-01	1.000000	0.990000	0.983288	0.980000	1	9.600000e-01	1
MYO5A	4644	broad.mit.edu	37	15	52667657	52667657	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:52667657G>A	ENST00000399231.3	-	20	2664	c.2421C>T	c.(2419-2421)tgC>tgT	p.C807C	MYO5A_ENST00000399233.2_Splice_Site_p.C807C|MYO5A_ENST00000553916.1_Splice_Site_p.C807C|MYO5A_ENST00000356338.6_Splice_Site_p.C807C|MYO5A_ENST00000358212.6_Splice_Site_p.C807C	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)			57					ACTTAGCATAGCTGGCCAAAG	0.398000																								0							SO:0001630	splice_region_variant			ENST00000399231.3	0	1	hg19	CCDS42037.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	0	0	0	5	245	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	0.935488	5	241	0	25	2	0	0	0	0	0	0		-3.337160	1	1	0	0		1	2	2	4	2.226600	1	0.890000	1.980000	0.900614	0.050000	1.000000e-02	1.000000	0.050000	0.150026	0.050000	0	3.000000e-02	1.000000e-01
SLTM	79811	broad.mit.edu	37	15	59179218	59179218	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:59179218C>T	ENST00000380516.2	-	19	2878	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.E500K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator			28					CTGTCTCCCTCTCTGCTCCCG	0.572000																								0							SO:0001583	missense			ENST00000380516.2	1	1	hg19	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621572	0.87460	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.15718	2.4	5.9	5.9	0.94986	.	0.099394	0.43579	D	0.000549	T	0.33440	0.0863	L	0.47716	1.5	0.46701	D	0.999163	D;D	0.67145	0.987;0.996	P;P	0.58928	0.713;0.848	T	0.00544	-1.1679	10	0.62326	D	0.03	.	18.4626	0.90745	0.0:1.0:0.0:0.0	.	931;500	Q9NWH9;A8K5V8	SLTM_HUMAN;.	K	931;497;500	ENSP00000369887:E931K	ENSP00000369887:E931K	E	-	1	0	SLTM	56966510	1.000000	0.71417	0.723000	0.30687	0.606000	0.37113	5.686000	0.68211	2.786000	0.95864	0.563000	0.77884	GAG		TCGA-US-A776-01A-13D-A33T-08	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	1	0	0	23	464	0	66	1	9.992982e-01	14	216	0	66	2		0	0	0	0	0	2	1	0.999999	23	458	0	65	2	0	0	0	0	0	0		-3.148726	1	1	0	0		1	2	2	4	2.226600	1	0.890000	1.980000	0.900614	0.110000	7.000000e-02	1.000000	0.110000	0.206893	0.110000	0	9.000000e-02	1.600000e-01
HCN4	10021	broad.mit.edu	37	15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	RP11-272D12.1_ENST00000557981.1_RNA|RP11-272D12.1_ENST00000558742.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	p.R390C(1)		55					CGGGAGAGGCGTAACAGGCGT	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000261917.3	1	1	hg19	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975976	0.53720	.	.	ENSG00000138622	ENST00000261917	D	0.98849	-5.18	5.34	4.41	0.53225	Ion transport (1);	.	.	.	.	D	0.99324	0.9763	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	9	0.87932	D	0	.	13.62	0.62132	0.0:0.0:0.7195:0.2805	.	390	Q9Y3Q4	HCN4_HUMAN	C	390	ENSP00000261917:R390C	ENSP00000261917:R390C	R	-	1	0	HCN4	71422820	1.000000	0.71417	0.973000	0.42090	0.796000	0.44982	4.527000	0.60573	1.355000	0.45865	0.655000	0.94253	CGC		TCGA-US-A776-01A-13D-A33T-08	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	1	39	189	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	38	188	0	33	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	2	2	4	2.226600	1	0.890000	1.980000	0.900614	0.430000	3.100000e-01	1.000000	0.430000	0.487213	0.430000	0	3.600000e-01	5.300000e-01
IMP3	55272	broad.mit.edu	37	15	75932242	75932242	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr15:75932242G>C	ENST00000314852.2	-	2	1211	c.268C>G	c.(268-270)Ccc>Gcc	p.P90A	CTD-2026K11.2_ENST00000564683.1_RNA|IMP3_ENST00000403490.1_Missense_Mutation_p.P90A|IMP3_ENST00000565349.1_5'Flank			Q8TCT8	SPP2A_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein			1					CCGCGCGTGGGCACCAAGCCG	0.711000																								0							SO:0001583	missense			ENST00000314852.2	0	1	hg19	CCDS10282.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457162	0.63401	.	.	ENSG00000177971	ENST00000314852;ENST00000403490	T;T	0.35789	1.29;1.29	6.17	5.26	0.73747	.	0.119153	0.56097	D	0.000023	T	0.27349	0.0671	L	0.27053	0.805	0.54753	D	0.999984	B	0.19706	0.038	B	0.19391	0.025	T	0.04386	-1.0955	10	0.30078	T	0.28	-16.8425	13.6525	0.62318	0.0:0.1546:0.8454:0.0	.	90	Q9NV31	IMP3_HUMAN	A	90	ENSP00000326981:P90A;ENSP00000385217:P90A	ENSP00000326981:P90A	P	-	1	0	IMP3	73719297	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.252000	0.51461	1.615000	0.50252	0.655000	0.94253	CCC		TCGA-US-A776-01A-13D-A33T-08	IMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286476.1	1	0	0	11	120	0	26	1	9.982962e-01	11	116	0	26	2		0	0	0	0	0	2	1	0.998506	11	119	0	25	2	0	0	0	0	0	0		-16.620680	1	1	0	0		1	2	2	4	2.226600	1	0.890000	1.980000	0.900614	0.220000	1.100000e-01	1.000000	0.210000	0.299205	0.220000	0	1.600000e-01	3.200000e-01
TPSD1	23430	broad.mit.edu	37	16	1306591	1306591	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:1306591G>T	ENST00000211076.3	+	2	305	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.V46L	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1			20		Hepatocellular(780;0.00369)			GCCCTGGCAGGTGAGCCTGAG	0.692000																								0							SO:0001583	missense			ENST00000211076.3	1	1	hg19	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	-	15.49	2.850007	0.51270	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.86865	-2.18;-2.18	3.0	3.0	0.34707	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000568	D	0.92577	0.7642	M	0.84326	2.69	0.50813	D	0.999896	D	0.64830	0.994	D	0.71184	0.972	D	0.93238	0.6623	10	0.87932	D	0	.	11.7565	0.51878	0.0:0.0:1.0:0.0	.	53	Q9BZJ3	TRYD_HUMAN	L	46;53	ENSP00000380668:V46L;ENSP00000211076:V53L	ENSP00000211076:V53L	V	+	1	0	TPSD1	1246592	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	3.053000	0.49901	1.642000	0.50584	0.185000	0.17295	GTG		TCGA-US-A776-01A-13D-A33T-08	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2	1	0	1	82	433	0	95	0	0	0	1	0	95	2		0	0	0	0	0	2	1	1.000000	80	427	0	94	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	2.016145	0	0.890000	1.980000	0.889508	0.350000	2.800000e-01	0.430000	0.360000	0.359076	0.350000	0	3.100000e-01	3.900000e-01
CNOT1	23019	broad.mit.edu	37	16	58562472	58562472	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr16:58562472C>T	ENST00000317147.5	-	44	6692	c.6360G>A	c.(6358-6360)gtG>gtA	p.V2120V	CNOT1_ENST00000245138.4_Silent_p.V971V|CNOT1_ENST00000569240.1_Silent_p.V2115V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1			87					TAGGTGGGATCACATCACAGA	0.403000																								0							SO:0001819	synonymous_variant			ENST00000317147.5	1	1	hg19	CCDS10799.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	1	0	1	65	319	0	71	1	1	38	124	0	71	2		0	0	0	0	0	2	1	1.000000	65	319	0	71	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	2.025821	0	0.890000	1.980000	0.890000	0.370000	2.900000e-01	0.470000	0.380000	0.384099	0.370000	0	3.300000e-01	4.300000e-01
MYH1	4619	broad.mit.edu	37	17	10416957	10416957	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:10416957G>A	ENST00000226207.5	-	9	885	c.791C>T	c.(790-792)gCt>gTt	p.A264V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult			176					TTCAATATCAGCAGAAGCCAG	0.408000																								0							SO:0001583	missense			ENST00000226207.5	1	1	hg19	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155559	0.94686	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.79247	-1.25	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000638	D	0.91222	0.7234	H	0.95224	3.64	0.80722	D	1	D	0.59767	0.986	P	0.61328	0.887	D	0.92981	0.6406	10	0.59425	D	0.04	.	19.6888	0.95989	0.0:0.0:1.0:0.0	.	264	P12882	MYH1_HUMAN	V	264	ENSP00000226207:A264V	ENSP00000226207:A264V	A	-	2	0	MYH1	10357682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.726000	0.74758	2.715000	0.92844	0.655000	0.94253	GCT		TCGA-US-A776-01A-13D-A33T-08	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	0	0	0	10	354	0	64	0	0	0	1	0	64	2		0	0	0	0	0	2	1	0.996893	10	352	0	64	2	0	0	0	0	0	0		-3.413645	1	1	0	0		1	1	2	3	2.093098	0	0.890000	1.980000	0.891924	0.060000	2.000000e-02	1.000000	0.060000	0.095506	0.060000	0	4.000000e-02	9.000000e-02
TRPV3	162514	broad.mit.edu	37	17	3432261	3432261	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:3432261G>A	ENST00000576742.1	-	10	1592	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	TRPV3_ENST00000572519.1_Missense_Mutation_p.P424L|TRPV3_ENST00000301365.4_Missense_Mutation_p.P424L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3			35				Menthol(DB00825)	CGTGTGCAGCGGCTCCAGGGT	0.522000																								0							SO:0001583	missense			ENST00000576742.1	1	1	hg19	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228444	0.79576	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.91351	-2.83	5.12	5.12	0.69794	.	0.161457	0.43416	D	0.000577	D	0.94358	0.8186	L	0.59912	1.85	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;0.965;0.999;1.0;0.999;0.99;0.983;1.0	D;P;D;D;D;P;B;D	0.91635	0.998;0.83;0.951;0.998;0.964;0.523;0.324;0.999	D	0.94807	0.7975	10	0.87932	D	0	-12.014	17.9362	0.89013	0.0:0.0:1.0:0.0	.	6;408;408;424;408;424;424;424	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	L	424;424;408	ENSP00000301365:P424L	ENSP00000301365:P424L	P	-	2	0	TRPV3	3379011	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	7.536000	0.82023	2.563000	0.86464	0.655000	0.94253	CCG		TCGA-US-A776-01A-13D-A33T-08	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	1	0	1	316	386	0	111	0	0	0	1	0	111	2		0	0	0	0	0	2	1	1.000000	314	380	0	111	2	0	0	0	0	0	0		-20.000000	1	1	121412	5	38	1	1	2	3	2.202735	1	0.890000	1.980000	0.896883	0.990000	9.800000e-01	1.000000	1.000000	0.999343	0.990000	1	9.900000e-01	1
KCNH4	23415	broad.mit.edu	37	17	40321553	40321553	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40321553C>T	ENST00000264661.3	-	9	1864	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R511H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4			32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)			TTCGAGCATGCGCTGCTTGAG	0.637000													NSCLC(117;707 1703 2300 21308 31858)											0							SO:0001583	missense			ENST00000264661.3	1	1	hg19	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148528	0.94603	2.27E-4	1.16E-4	ENSG00000089558	ENST00000264661	D	0.97430	-4.38	4.18	4.18	0.49190	Cyclic nucleotide-binding-like (1);	0.000000	0.38720	N	0.001587	D	0.98855	0.9613	H	0.94264	3.515	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.99683	1.0999	10	0.87932	D	0	.	16.6694	0.85261	0.0:1.0:0.0:0.0	.	511	Q9UQ05	KCNH4_HUMAN	H	511	ENSP00000264661:R511H	ENSP00000264661:R511H	R	-	2	0	KCNH4	37575079	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.616000	0.83018	2.148000	0.66965	0.462000	0.41574	CGC		TCGA-US-A776-01A-13D-A33T-08	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	1	0	1	140	203	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1.000000	140	203	0	54	2	0	0	0	0	0	0		-19.976160	1	1	121412	22	47	1	0	1	1	1.897765	1	0.890000	1.980000	0.879841	0.830000	7.200000e-01	0.940000	0.840000	0.840395	0.830000	0	7.800000e-01	8.900000e-01
BECN1	8678	broad.mit.edu	37	17	40970815	40970815	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:40970815C>T	ENST00000361523.4	-	5	473	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Missense_Mutation_p.R114Q	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related			13		Breast(137;0.00104)			CTTCAGTCTTCGGCTGAGGTT	0.607000																								0							SO:0001583	missense			ENST00000361523.4	1	1	hg19	CCDS11441.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365432	0.41902	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.28895	1.59	5.3	4.34	0.51931	.	0.123692	0.53938	D	0.000053	T	0.24198	0.0586	L	0.41236	1.265	0.80722	D	1	B	0.22211	0.066	B	0.09377	0.004	T	0.04427	-1.0952	10	0.17832	T	0.49	.	14.0369	0.64651	0.0:0.9277:0.0:0.0723	.	114	Q14457	BECN1_HUMAN	Q	114;27	ENSP00000355231:R114Q	ENSP00000355231:R114Q	R	-	2	0	BECN1	38224341	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.577000	0.82486	1.471000	0.48121	-0.136000	0.14681	CGA		TCGA-US-A776-01A-13D-A33T-08	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452405.1	1	0	1	31	278	0	52	1	9.999984e-01	12	179	0	52	2		0	0	0	0	0	2	1	1.000000	30	277	0	50	2	0	0	0	0	0	0		-3.221884	1	1	121412	1	30	1	0	1	1	1.897765	1	0.890000	1.980000	0.879841	0.200000	1.400000e-01	0.280000	0.200000	0.211580	0.200000	0	1.700000e-01	2.500000e-01
MPP2	4355	broad.mit.edu	37	17	41955246	41955246	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:41955246G>A	ENST00000461854.1	-	14	1745	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	MPP2_ENST00000520305.1_Missense_Mutation_p.R391C|MPP2_ENST00000536246.1_Missense_Mutation_p.R519C|MPP2_ENST00000377184.3_Missense_Mutation_p.R547C|MPP2_ENST00000269095.4_Missense_Mutation_p.R530C|MPP2_ENST00000523501.1_Missense_Mutation_p.R519C|MPP2_ENST00000518766.1_Missense_Mutation_p.R575C			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)			29		Breast(137;0.00314)			TGGAGCTCGCGGAAGGTCCTC	0.607000																								0							SO:0001583	missense			ENST00000461854.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	18.17	3.564385	0.65651	0.0	1.16E-4	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.35	2.2	0.27929	.	.	.	.	.	T	0.54647	0.1871	M	0.62723	1.935	0.54753	D	0.999988	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.52147	-0.8614	9	0.66056	D	0.02	.	8.7608	0.34674	0.0797:0.2865:0.6338:0.0	.	575;547	E7EV80;Q14168-3	.;.	C	547;530;554;391;519;519;575	ENSP00000366389:R547C;ENSP00000269095:R530C;ENSP00000428286:R554C;ENSP00000428136:R391C;ENSP00000430540:R519C;ENSP00000438012:R519C;ENSP00000428182:R575C	ENSP00000269095:R530C	R	-	1	0	MPP2	39310772	0.988000	0.35896	0.279000	0.24732	0.984000	0.73092	2.129000	0.42055	0.236000	0.21180	0.555000	0.69702	CGC		TCGA-US-A776-01A-13D-A33T-08	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	1	0	1	190	260	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1.000000	185	254	0	89	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.872344	0	0.890000	1.980000	0.881568	0.870000	7.800000e-01	0.970000	0.880000	0.881579	0.870000	1	8.200000e-01	9.300000e-01
TBKBP1	9755	broad.mit.edu	37	17	45776015	45776015	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:45776015C>T	ENST00000361722.3	+	4	1357	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W		NM_014726.2	NP_055541.1			TBK1 binding protein 1			7					GCAGCAGCTGCGGCAACAGCA	0.637000											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000361722.3	0	1	hg19	CCDS45722.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211562	0.39102	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	.	0.199024	0.40818	N	0.001001	T	0.35480	0.0933	N	0.14661	0.345	0.40791	D	0.983258	D	0.53312	0.959	B	0.44108	0.441	T	0.38672	-0.9650	10	0.87932	D	0	-9.2625	13.9827	0.64315	0.1522:0.8478:0.0:0.0	.	170	A7MCY6	TBKB1_HUMAN	W	170	ENSP00000354777:R170W;ENSP00000446365:R170W	ENSP00000354777:R170W	R	+	1	2	TBKBP1	43131014	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	2.455000	0.44988	2.642000	0.89623	0.650000	0.86243	CGG		TCGA-US-A776-01A-13D-A33T-08	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441363.1	0	0	0	4	54	0	10	0	3.514021e-01	0	15	0	10	2		0	0	0	0	0	2	1	0.892752	4	54	0	10	2	0	0	0	0	0	0		-8.478672	1	1	0	0		1	0	0	0	1.910561	0	0.890000	1.980000	0.883795	0.160000	5.000000e-02	0.330000	0.150000	0.176868	0.160000	0	9.000000e-02	2.500000e-01
PPP1R9B	84687	broad.mit.edu	37	17	48212935	48212935	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:48212935C>G	ENST00000316878.6	-	11	2379	c.2377G>C	c.(2377-2379)Gac>Cac	p.D793H	PPP1R9B_ENST00000501501.2_5'UTR|AC002401.1_ENST00000451776.1_RNA	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B			8					AGGAGCTTGTCCATCTCCTCC	0.642000																								0							SO:0001583	missense			ENST00000316878.6	0	1	hg19																																																																																					TCGA-US-A776-01A-13D-A33T-08	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	41	39	0	15	1	1	40	56	0	15	2		0	0	0	0	0	2	1	1.000000	41	38	0	14	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.910561	0	0.890000	1.980000	0.883795	0.990000	8.500000e-01	1.000000	1.000000	0.984647	0.990000	1	9.600000e-01	1
DHX33	56919	broad.mit.edu	37	17	5372038	5372038	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:5372038C>A	ENST00000225296.3	-	1	342	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	CTC-524C5.5_ENST00000571506.1_lincRNA|DHX33_ENST00000433302.3_Missense_Mutation_p.G48C	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33			17					TGCCTCCGGCCTCCTCCTCCT	0.721000																								0							SO:0001583	missense			ENST00000225296.3	1	0	hg19	CCDS11072.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267200	0.40095	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.24350	1.86;1.86	3.56	3.56	0.40772	.	0.277746	0.26116	N	0.026248	T	0.19167	0.0460	N	0.19112	0.55	0.24160	N	0.995664	D;P	0.58970	0.984;0.832	P;B	0.44623	0.455;0.249	T	0.09796	-1.0658	10	0.52906	T	0.07	.	12.9758	0.58537	0.0:1.0:0.0:0.0	.	48;48	Q05BE5;Q9H6R0	.;DHX33_HUMAN	C	48	ENSP00000225296:G48C;ENSP00000413779:G48C	ENSP00000225296:G48C	G	-	1	0	DHX33	5312762	0.773000	0.28580	1.000000	0.80357	0.963000	0.63663	-0.778000	0.04664	2.277000	0.76020	0.462000	0.41574	GGC		TCGA-US-A776-01A-13D-A33T-08	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	1	0	0	14	182	0	24	0	6.030151e-03	1	1	0	24	2		0	0	0	0	0	2	1	0.998197	14	128	0	20	2	0	0	0	0	0	0		-1.701117	0	1	0	0		1	1	2	3	2.093098	0	0.890000	1.980000	0.891924	0.160000	9.000000e-02	1.000000	0.160000	0.196965	0.160000	0	1.200000e-01	2.200000e-01
ZACN	353174	broad.mit.edu	37	17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel			11					GCCATTGAGCGCATAGGCTAC	0.622000																								0							SO:0001583	missense			ENST00000334586.5	0	1	hg19	CCDS11740.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.702	1.154853	0.21371	.	.	ENSG00000186919	ENST00000334586	D	0.88431	-2.38	4.64	2.61	0.31194	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.154450	0.43110	N	0.000602	D	0.83755	0.5323	M	0.78285	2.405	0.20196	N	0.999922	P	0.42518	0.782	B	0.28232	0.087	T	0.77517	-0.2558	10	0.87932	D	0	-15.7124	6.8633	0.24079	0.0924:0.0:0.7344:0.1732	.	261	Q401N2	ZACN_HUMAN	H	261	ENSP00000334854:R261H	ENSP00000334854:R261H	R	+	2	0	ZACN	71589333	0.751000	0.28327	0.017000	0.16124	0.217000	0.24651	1.805000	0.38883	0.557000	0.29117	0.505000	0.49811	CGC		TCGA-US-A776-01A-13D-A33T-08	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347827.2	0	0	0	9	1137	1	114	0	8.371849e-04	0	349	1	114	12		0	0	0	0	0	2	0	0.000414	5	1126	1	111	30	0	0	0	0	0	0		-1.758109	0	1	121412	1	33	1	1	3	4	3.396536	1	0.890000	1.980000	0.934730	0.030000	0	1.000000	0.040000	0.198608	0.030000	0	1.000000e-02	1
SMCHD1	23347	broad.mit.edu	37	18	2722606	2722606	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:2722606G>A	ENST00000320876.6	+	20	2886	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E850K|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1			45					GTTTCAGGATGAATTTGGTCA	0.358000																								0							SO:0001583	missense			ENST00000320876.6	1	1	hg19	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967778	0.92855	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25749	1.78;1.78	5.36	5.36	0.76844	.	0.191648	0.45606	D	0.000346	T	0.35189	0.0923	L	0.29908	0.895	0.38754	D	0.954179	D	0.60575	0.988	P	0.54544	0.755	T	0.20739	-1.0266	10	0.87932	D	0	-26.6941	19.4611	0.94918	0.0:0.0:1.0:0.0	.	850	A6NHR9	SMHD1_HUMAN	K	850	ENSP00000326603:E850K;ENSP00000261598:E850K	ENSP00000261598:E850K	E	+	1	0	SMCHD1	2712606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.242000	0.65389	2.657000	0.90304	0.655000	0.94253	GAA		TCGA-US-A776-01A-13D-A33T-08	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2	1	0	0	128	2260	0	102	0	1.925328e-01	0	15	0	102	2		0	0	0	0	0	2	1	1.000000	127	2237	0	102	2	0	0	0	0	0	0		-12.050670	1	1	0	0		1	1	7	8	7.397430	1	0.890000	1.980000	0.970027	0.440000	3.400000e-01	0.540000	0.480000	0.444971	0.440000	0	3.800000e-01	5.000000e-01
ANKRD12	23253	broad.mit.edu	37	18	9279616	9279616	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr18:9279616G>A	ENST00000262126.4	+	12	6217	c.5977G>A	c.(5977-5979)Gtg>Atg	p.V1993M	snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1970M|ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1970M	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12			65					GTTACAAGATGTGGATGATAA	0.313000																								0							SO:0001583	missense			ENST00000262126.4	1	1	hg19	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117487	0.94385	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.77877	-1.12;-1.13	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.87989	0.6317	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.88078	0.2805	10	0.87932	D	0	-9.2931	20.127	0.97984	0.0:0.0:1.0:0.0	.	1970;1993	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	M	1970;1993	ENSP00000372932:V1970M;ENSP00000262126:V1993M	ENSP00000262126:V1993M	V	+	1	0	ANKRD12	9269616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.775000	0.95449	0.585000	0.79938	GTG		TCGA-US-A776-01A-13D-A33T-08	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	0	0	0	14	595	0	132	0	2.982508e-02	0	11	0	132	2		0	0	0	0	0	2	1	0.999742	14	590	0	132	2	0	0	0	0	0	0		-2.895800	1	1	0	0		1	1	2	3	2.063634	0	0.890000	1.980000	0.890970	0.050000	2.000000e-02	0.090000	0.060000	0.064768	0.050000	0	3.000000e-02	7.000000e-02
HMHA1	23526	broad.mit.edu	37	19	1068622	1068622	+	Silent	SNP	G	G	A	rs148289980	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:1068622G>A	ENST00000313093.2	+	2	531	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HMHA1_ENST00000590214.1_Silent_p.P127P|HMHA1_ENST00000539243.2_Silent_p.P116P|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Silent_p.P104P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1			16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)			CCGCCAGCCCGGGCGAGCTGC	0.721000																								0							SO:0001819	synonymous_variant			ENST00000313093.2	1	1	hg19	CCDS32863.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1	1	0	0	8	171	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.989139	7	169	0	43	2	0	0	0	0	0	0		-3.361731	1	1	119718	37	45	1	0	1	1	1.759065	1	0.890000	1.980000	0.870390	0.080000	3.000000e-02	0.160000	0.080000	0.094755	0.080000	0	5.000000e-02	1.200000e-01
TM6SF2	53345	broad.mit.edu	37	19	19381000	19381000	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:19381000G>A	ENST00000389363.4	-	4	455	c.383C>T	c.(382-384)gCc>gTc	p.A128V	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_5'UTR	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2			14			Epithelial(12;0.0151)		GATGGCGCCGGCCATGGCCAG	0.642000																								0							SO:0001583	missense			ENST00000389363.4	0	1	hg19	CCDS42528.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.00|12.00	1.807588|1.807588	0.31961|0.31961	.|.	.|.	ENSG00000213996|ENSG00000213996	ENST00000389363;ENST00000269990|ENST00000431465	T|.	0.16897|.	2.31|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	1.234380|.	0.06107|.	U|.	0.666399|.	T|T	0.44540|0.44540	0.1298|0.1298	N|N	0.20530|0.20530	0.585|0.585	0.36402|0.36402	D|D	0.863169|0.863169	B|.	0.22800|.	0.075|.	B|.	0.17098|.	0.017|.	T|T	0.56854|0.56854	-0.7910|-0.7910	10|6	0.02654|0.87932	T|D	1|0	-2.6873|-2.6873	8.9715|8.9715	0.35910|0.35910	0.1014:0.0:0.8986:0.0|0.1014:0.0:0.8986:0.0	.|.	128|.	Q9BZW4|.	TM6S2_HUMAN|.	V|S	128|151	ENSP00000374014:A128V|.	ENSP00000269990:A128V|ENSP00000391180:P151S	A|P	-|-	2|1	0|0	TM6SF2|TM6SF2	19242000|19242000	0.998000|0.998000	0.40836|0.40836	0.912000|0.912000	0.35992|0.35992	0.768000|0.768000	0.43524|0.43524	4.136000|4.136000	0.58004|0.58004	2.196000|2.196000	0.70406|0.70406	0.505000|0.505000	0.49811|0.49811	GCC|CCG		TCGA-US-A776-01A-13D-A33T-08	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460122.2	0	0	0	5	444	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.936763	5	441	0	65	2	0	0	0	0	0	0		-4.593695	1	0	120992	2	32	1	2	4	6	2.848267	1	0.890000	1.980000	0.921953	0.030000	0	1.000000	0.030000	0.202915	0.030000	0	1.000000e-02	1
NCLN	56926	broad.mit.edu	37	19	3207651	3207651	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:3207651G>A	ENST00000246117.4	+	15	2088	c.1657G>A	c.(1657-1659)Gtc>Atc	p.V553I	NCLN_ENST00000591062.1_3'UTR|NCLN_ENST00000590671.1_Missense_Mutation_p.V479I	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin			5		Hepatocellular(1079;0.137)			CTACAAGACCGTCCAGAGGCT	0.657000																								0							SO:0001583	missense			ENST00000246117.4	0	1	hg19	CCDS32869.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033711	0.35893	0.0	1.16E-4	ENSG00000125912	ENST00000246117	T	0.32988	1.43	3.61	3.61	0.41365	.	0.388892	0.23910	N	0.043345	T	0.14787	0.0357	N	0.14661	0.345	0.43287	D	0.99526	B;B	0.21821	0.061;0.036	B;B	0.17098	0.017;0.008	T	0.08953	-1.0697	10	0.17832	T	0.49	-16.7764	6.8208	0.23857	0.1277:0.0:0.8723:0.0	.	552;553	Q969V3-2;Q969V3	.;NCLN_HUMAN	I	553	ENSP00000246117:V553I	ENSP00000246117:V553I	V	+	1	0	NCLN	3158651	0.994000	0.37717	0.918000	0.36340	0.722000	0.41435	2.613000	0.46351	1.848000	0.53677	0.561000	0.74099	GTC		TCGA-US-A776-01A-13D-A33T-08	NCLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452545.1	0	0	0	4	222	0	36	0	8.139060e-01	1	171	0	36	2		0	0	0	0	0	2	1	0.889055	4	220	0	36	2	0	0	0	0	0	0		-5.241756	1	1	121368	1	38	1	0	1	1	1.759065	1	0.890000	1.980000	0.870390	0.030000	0	0.080000	0.030000	0.041593	0.030000	0	1.000000e-02	6.000000e-02
RYR1	6261	broad.mit.edu	37	19	38966037	38966037	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:38966037G>A	ENST00000359596.3	+	29	4240	c.4240G>A	c.(4240-4242)Gtg>Atg	p.V1414M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1414M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1414M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCACGACGTGGTGCCTGC	0.612000																								0							SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056305	0.36277	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97378	-4.36;-4.36;-4.36	5.12	5.12	0.69794	B30.2/SPRY domain (1);	0.000000	0.64402	U	0.000014	D	0.98012	0.9345	M	0.72118	2.19	0.42879	D	0.994168	D;D	0.89917	1.0;0.998	D;P	0.68192	0.956;0.851	D	0.98185	1.0459	10	0.40728	T	0.16	.	17.3403	0.87293	0.0:0.0:1.0:0.0	.	1414;1414	P21817-2;P21817	.;RYR1_HUMAN	M	1414	ENSP00000352608:V1414M;ENSP00000347667:V1414M;ENSP00000354254:V1414M	ENSP00000347667:V1414M	V	+	1	0	RYR1	43657877	1.000000	0.71417	0.894000	0.35097	0.039000	0.13416	5.869000	0.69613	2.388000	0.81334	0.462000	0.41574	GTG		TCGA-US-A776-01A-13D-A33T-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	35	150	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	1.000000	35	150	0	30	2	0	0	0	0	0	0		-20.000000	1	1	121412	1	26	1	1	2	3	2.313813	1	0.890000	1.980000	0.906621	0.530000	3.600000e-01	1.000000	0.500000	0.623364	0.530000	0	4.400000e-01	1
ATP5SL	55101	broad.mit.edu	37	19	41944258	41944258	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:41944258G>A	ENST00000221943.9	-	2	85	c.80C>T	c.(79-81)gCg>gTg	p.A27V	ATP5SL_ENST00000301183.11_Missense_Mutation_p.A33V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.A33V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.A33V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.A27V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.A27V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.A27V|ATP5SL_ENST00000595425.1_Missense_Mutation_p.A27V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like			11					GGCCACTGCCGCACCCAGGCG	0.587000																								0							SO:0001583	missense			ENST00000221943.9	0	1	hg19	CCDS33032.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383695	0.61845	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000301183;ENST00000507129	T;T;T;T	0.24723	3.07;1.86;3.05;1.84	3.35	1.13	0.20643	.	0.571779	0.16030	N	0.232930	T	0.07908	0.0198	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B	0.27765	0.002;0.087;0.087;0.087;0.02;0.188;0.188	B;B;B;B;B;B;B	0.23419	0.008;0.012;0.012;0.012;0.019;0.046;0.046	T	0.28267	-1.0049	10	0.27082	T	0.32	-9.849	3.8708	0.09036	0.0:0.5652:0.2008:0.234	.	33;33;27;27;27;27;33	B4DFT4;B4DDC0;Q9NW81-2;B4DMZ4;E9PDC6;Q9NW81;F5H4W7	.;.;.;.;.;AT5SL_HUMAN;.	V	27;27;33;33;103	ENSP00000221943:A27V;ENSP00000397413:A27V;ENSP00000403910:A33V;ENSP00000301183:A33V	ENSP00000221943:A27V	A	-	2	0	ATP5SL	46636098	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.066000	0.14489	0.076000	0.16826	-0.120000	0.15030	GCG		TCGA-US-A776-01A-13D-A33T-08	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	0	0	0	6	350	0	47	0	2.153570e-01	0	44	0	47	2		0	0	0	0	0	2	1	0.964064	6	346	0	47	2	0	0	0	0	0	0		-2.584481	1	1	121412	4	38	1	1	2	3	2.315603	1	0.890000	1.980000	0.906621	0.050000	0	1.000000	0.050000	0.271960	0.050000	0	2.000000e-02	1
TEX101	83639	broad.mit.edu	37	19	43922332	43922332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:43922332C>A	ENST00000598265.1	+	6	699	c.533C>A	c.(532-534)tCg>tAg	p.S178*	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Nonsense_Mutation_p.S196*|TEX101_ENST00000253435.7_Nonsense_Mutation_p.S196*	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101			15		Prostate(69;0.0199)			GGCATTGAGTCGTCTGTGGAG	0.522000																								0							SO:0001587	stop_gained			ENST00000598265.1	0	1	hg19	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252496	0.39797	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	.	.	.	4.28	3.25	0.37280	.	0.879578	0.09434	N	0.802755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9191	8.0831	0.30756	0.0:0.8919:0.0:0.1081	.	.	.	.	X	196;191	.	ENSP00000253435:S196X	S	+	2	0	TEX101	48614172	0.001000	0.12720	0.002000	0.10522	0.037000	0.13140	1.237000	0.32695	1.391000	0.46566	0.563000	0.77884	TCG		TCGA-US-A776-01A-13D-A33T-08	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	1	0	0	24	509	0	63	0	6.548120e-03	0	3	0	63	2		0	0	0	0	0	2	1	1.000000	22	504	0	63	2	0	0	0	0	0	0		-4.522012	1	1	0	0		1	1	2	3	2.315603	1	0.890000	1.980000	0.906621	0.120000	7.000000e-02	1.000000	0.120000	0.327338	0.120000	0	9.000000e-02	1
ZNF180	7733	broad.mit.edu	37	19	44981580	44981580	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:44981580C>A	ENST00000221327.4	-	5	1399	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Missense_Mutation_p.R346I|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.R348I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	p.R373I(1)		33		Prostate(69;0.0435)			TGTGTGAGTTCTCTGATGTGC	0.433000													Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000221327.4	1	1	hg19	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527425	0.64860	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.24908	1.83;1.83	5.28	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000322	T	0.44993	0.1320	M	0.73962	2.25	0.80722	D	1	D;D;D	0.67145	0.996;0.991;0.991	P;P;P	0.57960	0.82;0.83;0.83	T	0.49790	-0.8902	10	0.87932	D	0	-25.9269	13.6071	0.62054	0.156:0.844:0.0:0.0	.	348;372;373	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	373;348	ENSP00000221327:R373I;ENSP00000375818:R348I	ENSP00000221327:R373I	R	-	2	0	ZNF180	49673420	0.000000	0.05858	1.000000	0.80357	0.941000	0.58515	-1.112000	0.03299	2.444000	0.82710	0.655000	0.94253	AGA		TCGA-US-A776-01A-13D-A33T-08	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	1	0	0	28	659	0	88	0	6.453451e-02	0	10	0	88	2		0	0	0	0	0	2	1	1.000000	28	648	0	88	2	0	0	0	0	0	0		-4.423117	1	0	0	0		1	1	2	3	2.315603	1	0.890000	1.980000	0.906621	0.110000	6.000000e-02	1.000000	0.110000	0.317925	0.110000	0	8.000000e-02	1
CYTH2	9266	broad.mit.edu	37	19	48981402	48981402	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:48981402G>A	ENST00000452733.2	+	9	1361	c.885G>A	c.(883-885)acG>acA	p.T295T	CYTH2_ENST00000427476.1_Splice_Site_p.T296T|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2			15					AGTACACCACGGTGAGCGTGA	0.652000																								0							SO:0001630	splice_region_variant			ENST00000452733.2	1	0	hg19	CCDS12722.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1	0	0	1	23	321	0	81	1	9.994237e-01	13	153	0	81	2		0	0	0	0	0	2	1	0.999999	22	310	0	79	2	0	0	0	0	0	0		-2.841716	1	1	121412	2	32	1	0	1	1	1.633506	1	0.890000	1.980000	0.869016	0.120000	7.000000e-02	0.180000	0.130000	0.130845	0.120000	0	9.000000e-02	1.600000e-01
LRRC4B	94030	broad.mit.edu	37	19	51021944	51021944	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51021944C>T	ENST00000599957.1	-	3	1223	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	LRRC4B_ENST00000389201.3_Silent_p.A342A			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			GGCCGGCGGGCGCATGACAGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000599957.1	1	1	hg19	CCDS42595.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	1	0	1	57	310	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	55	305	0	47	2	0	0	0	0	0	0		-3.149637	1	1	0	0		1	1	2	3	2.851980	1	0.890000	1.980000	0.923875	0.500000	3.800000e-01	0.630000	0.510000	0.510285	0.500000	0	4.400000e-01	5.700000e-01
SYT3	84258	broad.mit.edu	37	19	51135733	51135733	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135733A>C	ENST00000338916.4	-	2	1117	c.484T>G	c.(484-486)Ttg>Gtg	p.L162V	SYT3_ENST00000593901.1_Missense_Mutation_p.L162V|SYT3_ENST00000600079.1_Missense_Mutation_p.L162V|SYT3_ENST00000544769.1_Missense_Mutation_p.L162V	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III			35		all_neural(266;0.131)			TCCATGTCCAAGTAGGAGGGC	0.657000																								0							SO:0001583	missense			ENST00000338916.4	1	1	hg19	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884129	0.51908	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.60299	0.2;0.2	4.59	-1.9	0.07665	.	0.162709	0.28268	U	0.015977	T	0.57021	0.2025	L	0.29908	0.895	0.48632	D	0.999683	D	0.63880	0.993	D	0.67548	0.952	T	0.52155	-0.8613	10	0.32370	T	0.25	.	11.5224	0.50560	0.4141:0.0:0.5859:0.0	.	162	Q9BQG1	SYT3_HUMAN	V	162	ENSP00000340914:L162V;ENSP00000438883:L162V	ENSP00000340914:L162V	L	-	1	2	SYT3	55827545	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.388000	0.34442	-0.290000	0.09025	0.460000	0.39030	TTG		TCGA-US-A776-01A-13D-A33T-08	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	1	74	201	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	1.000000	74	199	0	32	2	0	0	0	0	0	0		-20.000000	1	0	0	0		1	1	2	3	2.851980	1	0.890000	1.980000	0.923875	0.870000	7.000000e-01	1.000000	1.000000	0.875289	0.870000	1	7.800000e-01	9.600000e-01
SYT3	84258	broad.mit.edu	37	19	51135878	51135878	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:51135878G>A	ENST00000338916.4	-	2	972	c.339C>T	c.(337-339)ggC>ggT	p.G113G	SYT3_ENST00000593901.1_Silent_p.G113G|SYT3_ENST00000600079.1_Silent_p.G113G|SYT3_ENST00000544769.1_Silent_p.G113G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III			35		all_neural(266;0.131)			GGTGGTGCCCGCCTCCGCCTA	0.726000																								0							SO:0001819	synonymous_variant			ENST00000338916.4	1	1	hg19	CCDS12798.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	1	0	0	12	204	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	0.999173	12	203	0	33	2	0	0	0	0	0	0		-15.590280	1	1	0	0		1	1	2	3	2.851980	1	0.890000	1.980000	0.923875	0.180000	9.000000e-02	0.300000	0.180000	0.193560	0.180000	0	1.300000e-01	2.400000e-01
NLRP8	126205	broad.mit.edu	37	19	56467042	56467042	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr19:56467042C>T	ENST00000291971.3	+	3	1689	c.1618C>T	c.(1618-1620)Cgc>Tgc	p.R540C	NLRP8_ENST00000590542.1_Missense_Mutation_p.R540C	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8			35		Colorectal(82;0.000147)|Ovarian(87;0.17)			GAATATCCAGCGCCTGATAGC	0.463000																								0							SO:0001583	missense			ENST00000291971.3	0	1	hg19	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	C	3.528	-0.096249	0.07010	.	.	ENSG00000179709	ENST00000291971	D	0.88354	-2.37	2.04	-4.08	0.03963	.	.	.	.	.	T	0.77061	0.4075	L	0.28400	0.85	0.09310	N	1	B;B	0.28512	0.214;0.004	B;B	0.19391	0.025;0.002	T	0.61540	-0.7042	9	0.54805	T	0.06	.	3.8082	0.08786	0.1866:0.2595:0.0:0.5539	.	540;540	Q86W28-2;Q86W28	.;NALP8_HUMAN	C	540	ENSP00000291971:R540C	ENSP00000291971:R540C	R	+	1	0	NLRP8	61158854	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.174000	0.01264	-1.334000	0.02244	-0.290000	0.09829	CGC		TCGA-US-A776-01A-13D-A33T-08	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	0	0	0	16	479	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	0.999929	16	474	0	116	2	0	0	0	0	0	0		-3.145005	1	1	121412	1	37	1	0	1	1	1.631026	1	0.890000	1.980000	0.868319	0.050000	3.000000e-02	0.100000	0.060000	0.064207	0.050000	0	4.000000e-02	8.000000e-02
CASQ2	845	broad.mit.edu	37	1	116247905	116247905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:116247905C>T	ENST00000261448.5	-	9	1086	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CASQ2_ENST00000456138.2_Missense_Mutation_p.E212K	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)			18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)			TCCAGGAATTCGTAGCCATCT	0.502000																								0							SO:0001583	missense			ENST00000261448.5	1	1	hg19	CCDS884.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228076	0.95173	.	.	ENSG00000118729	ENST00000261448;ENST00000456138;ENST00000446755	T;T	0.79033	-1.23;-1.23	5.58	5.58	0.84498	Thioredoxin-like fold (2);	0.047801	0.85682	D	0.000000	D	0.84929	0.5581	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.964	T	0.80841	-0.1202	10	0.20046	T	0.44	-37.1912	19.1719	0.93581	0.0:1.0:0.0:0.0	.	212;283	B4DIB0;O14958	.;CASQ2_HUMAN	K	283;212;237	ENSP00000261448:E283K;ENSP00000403858:E212K	ENSP00000261448:E283K	E	-	1	0	CASQ2	116049428	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.481000	0.81124	2.632000	0.89209	0.655000	0.94253	GAA		TCGA-US-A776-01A-13D-A33T-08	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	1	0	0	39	201	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1.000000	39	200	0	49	2	0	0	0	0	0	0		-3.354066	1	1	0	0		1	1	2	3	2.106507	0	0.890000	1.980000	0.892394	0.370000	2.700000e-01	1.000000	0.370000	0.403076	0.370000	0	3.200000e-01	4.400000e-01
CLCN6	1185	broad.mit.edu	37	1	11883815	11883815	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:11883815G>A	ENST00000346436.6	+	7	557	c.505G>A	c.(505-507)Gta>Ata	p.V169I	CLCN6_ENST00000376487.3_Missense_Mutation_p.V147I|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000312413.6_Missense_Mutation_p.V169I|CLCN6_ENST00000376496.3_Missense_Mutation_p.V169I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6			36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)			TCTGAATGGCGTAAAGGTGCC	0.552000																								0							SO:0001583	missense			ENST00000346436.6	0	1	hg19	CCDS138.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.13	3.555826	0.65425	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.97	5.97	0.96955	Chloride channel, core (2);	0.053524	0.85682	D	0.000000	D	0.89100	0.6619	N	0.25647	0.755	0.58432	D	0.99999	B;B;P;P;B	0.48503	0.105;0.442;0.911;0.823;0.128	B;B;B;B;B	0.36989	0.016;0.098;0.238;0.181;0.027	D	0.87899	0.2689	10	0.21014	T	0.42	-32.7531	17.5798	0.87963	0.0:0.0:1.0:0.0	.	147;169;169;169;169	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	169;169;147;169;169;169;169	ENSP00000308367:V169I;ENSP00000234488:V169I;ENSP00000365670:V147I;ENSP00000365679:V169I	ENSP00000308367:V169I	V	+	1	0	CLCN6	11806402	1.000000	0.71417	0.979000	0.43373	0.847000	0.48162	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTA		TCGA-US-A776-01A-13D-A33T-08	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	0	0	0	4	294	0	66	0	9.812765e-04	0	3	0	66	2		0	0	0	0	0	2	1	0.889437	4	292	0	65	2	0	0	0	0	0	0		-2.920153	1	1	121412	4	38	1	0	1	1	1.660765	1	0.890000	1.980000	0.860909	0.020000	0	0.060000	0.030000	0.029270	0.020000	0	0	4.000000e-02
FLG2	388698	broad.mit.edu	37	1	152326576	152326576	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:152326576C>A	ENST00000388718.5	-	3	3758	c.3686G>T	c.(3685-3687)gGa>gTa	p.G1229V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2			188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		AACTGTGGATCCTGACTCTAC	0.483000																								0							SO:0001583	missense			ENST00000388718.5	1	1	hg19	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928345	0.18131	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	3.52	-0.287	0.12858	.	.	.	.	.	T	0.03651	0.0104	M	0.72118	2.19	0.09310	N	1	P	0.38827	0.649	B	0.30855	0.121	T	0.34079	-0.9843	9	0.39692	T	0.17	1.501	2.0759	0.03624	0.182:0.4018:0.2961:0.1201	.	1229	Q5D862	FILA2_HUMAN	V	1229	ENSP00000373370:G1229V	ENSP00000373370:G1229V	G	-	2	0	FLG2	150593200	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-1.119000	0.03276	-0.341000	0.08376	0.306000	0.20318	GGA		TCGA-US-A776-01A-13D-A33T-08	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	0	0	0	21	806	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	0.999997	21	796	0	135	2	0	0	0	0	0	0		-2.746853	1	1	121412	4	38	1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.050000	2.000000e-02	1.000000	0.060000	0.106922	0.050000	0	4.000000e-02	8.000000e-02
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like			80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		GATTTAGCTGCGATATGTGTA	0.443000																								0							SO:0001583	missense			ENST00000368559.3	1	1	hg19	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA		TCGA-US-A776-01A-13D-A33T-08	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	0	1	144	634	1	96		0	0	0	1	96	2	1	1	102	571	0	464	2	1	1.000000	143	631	1	96	25	0	0	0	0	0	0		-20.000000	1	1	120854	13	43	1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.430000	3.700000e-01	1.000000	0.440000	0.466289	0.430000	0	4.000000e-01	4.800000e-01
SPTA1	6708	broad.mit.edu	37	1	158618342	158618342	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:158618342C>T	ENST00000368147.4	-	26	3851	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				GCCCTCATGCCGTCGCTGAAG	0.502000																								0							SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696860	0.48202	2.57E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49139	0.79;0.79	5.5	3.17	0.36434	.	0.307452	0.17970	N	0.155920	T	0.11153	0.0272	N	0.12422	0.21	0.24601	N	0.99378	B	0.02656	0.0	B	0.08055	0.003	T	0.22730	-1.0208	10	0.26408	T	0.33	.	9.1642	0.37041	0.0:0.1701:0.0:0.8299	.	1224	P02549	SPTA1_HUMAN	Q	1224	ENSP00000357130:R1224Q;ENSP00000357129:R1224Q	ENSP00000357129:R1224Q	R	-	2	0	SPTA1	156884966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.500000	0.60387	1.111000	0.41721	-0.238000	0.12139	CGG		TCGA-US-A776-01A-13D-A33T-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1	219	246	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	214	243	0	83	2	0	0	0	0	0	0		-20.000000	1	1	120876	4	37	1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.990000	9.900000e-01	1.000000	1.000000	0.999654	0.990000	1	9.900000e-01	1
PAPPA2	60676	broad.mit.edu	37	1	176564512	176564512	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:176564512T>A	ENST00000367662.3	+	3	2936	c.1772T>A	c.(1771-1773)aTt>aAt	p.I591N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.I591N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2			226					CCCAGCAAGATTGGCAATGAC	0.602000																								0							SO:0001583	missense			ENST00000367662.3	1	1	hg19	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.910769	0.52439	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.51325	3.96;0.71	5.24	5.24	0.73138	Notch domain (2);	0.381407	0.27531	N	0.018942	T	0.59418	0.2192	L	0.36672	1.1	0.43971	D	0.996659	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.973	T	0.63193	-0.6692	10	0.87932	D	0	-6.9095	14.8259	0.70113	0.0:0.0:0.0:1.0	.	591;591	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	591	ENSP00000356634:I591N;ENSP00000356633:I591N	ENSP00000356633:I591N	I	+	2	0	PAPPA2	174831135	1.000000	0.71417	0.995000	0.50966	0.131000	0.20780	7.897000	0.87356	1.976000	0.57569	0.528000	0.53228	ATT		TCGA-US-A776-01A-13D-A33T-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1	104	420	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	1.000000	102	417	0	105	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.460000	3.800000e-01	1.000000	0.470000	0.497212	0.460000	0	4.200000e-01	5.200000e-01
CYB5R1	51706	broad.mit.edu	37	1	202931804	202931804	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:202931804C>G	ENST00000367249.4	-	9	843	c.769G>C	c.(769-771)Gtg>Ctg	p.V257L	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1			12			BRCA - Breast invasive adenocarcinoma(75;0.141)	Flavin adenine dinucleotide(DB03147)	TCGGCAGTCACAAAGCCCTTG	0.572000																								0							SO:0001583	missense			ENST00000367249.4	1	1	hg19	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963356	0.74016	.	.	ENSG00000159348	ENST00000367249	D	0.91843	-2.92	6.08	6.08	0.98989	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.081205	0.51477	D	0.000095	D	0.91324	0.7264	L	0.45422	1.42	0.46798	D	0.999203	B	0.20261	0.043	B	0.34242	0.178	D	0.87590	0.2490	10	0.87932	D	0	-4.6296	18.1659	0.89727	0.0:1.0:0.0:0.0	.	257	Q9UHQ9	NB5R1_HUMAN	L	257	ENSP00000356218:V257L	ENSP00000356218:V257L	V	-	1	0	CYB5R1	201198427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.328000	0.65887	2.894000	0.99253	0.591000	0.81541	GTG		TCGA-US-A776-01A-13D-A33T-08	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	1	0	1	42	263	0	47	1	9.993549e-01	13	59	0	47	2		0	0	0	0	0	2	1	1.000000	42	260	0	45	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.320000	2.300000e-01	1.000000	0.320000	0.362836	0.320000	0	2.800000e-01	3.900000e-01
TGFB2	7042	broad.mit.edu	37	1	218609475	218609475	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:218609475G>A	ENST00000366930.4	+	5	1385	c.918G>A	c.(916-918)gcG>gcA	p.A306A	TGFB2_ENST00000366929.4_Silent_p.A334A|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2			31					CTTTGGATGCGGCCTATTGCT	0.438000																								0							SO:0001819	synonymous_variant			ENST00000366930.4	1	1	hg19	CCDS1521.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	0	0	0	17	401	0	81	0	0	0	1	0	81	2		0	0	0	0	0	2	1	0.999964	17	397	0	80	2	0	0	0	0	0	0		-2.931971	1	1	121410	1	29	1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.090000	5.000000e-02	1.000000	0.100000	0.143626	0.090000	0	7.000000e-02	1.300000e-01
CNIH3	149111	broad.mit.edu	37	1	224872534	224872534	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:224872534C>T	ENST00000272133.3	+	3	1069	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3			9	Breast(184;0.218)				CATCTGCTTCCTTCTGCGAAA	0.532000																								0							SO:0001583	missense			ENST00000272133.3	1	1	hg19	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558961	0.45590	.	.	ENSG00000143786	ENST00000272133	T	0.42513	0.97	4.49	3.58	0.41010	.	0.000000	0.64402	U	0.000001	T	0.27866	0.0686	L	0.29908	0.895	0.45567	D	0.998516	B	0.15719	0.014	B	0.19391	0.025	T	0.05022	-1.0911	10	0.09338	T	0.73	-13.0488	11.2414	0.48972	0.0:0.9082:0.0:0.0918	.	63	Q8TBE1	CNIH3_HUMAN	F	63	ENSP00000272133:L63F	ENSP00000272133:L63F	L	+	1	0	CNIH3	222939157	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.258000	0.65479	0.892000	0.36259	0.551000	0.68910	CTT		TCGA-US-A776-01A-13D-A33T-08	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	1	0	0	18	392	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	0.999982	18	389	0	57	2	0	0	0	0	0	0		-2.840083	1	1	121412	2	33	1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.100000	5.000000e-02	1.000000	0.110000	0.150978	0.100000	0	7.000000e-02	1.400000e-01
EPHB2	2048	broad.mit.edu	37	1	23110922	23110922	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:23110922C>T	ENST00000400191.3	+	3	182	c.164C>T	c.(163-165)aCg>aTg	p.T55M	EPHB2_ENST00000374630.3_Missense_Mutation_p.T55M|EPHB2_ENST00000374632.3_Missense_Mutation_p.T55M|EPHB2_ENST00000544305.1_Missense_Mutation_p.T55M|EPHB2_ENST00000374627.1_Missense_Mutation_p.T49M	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2			56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)			AACATGAACACGATCCGCACG	0.572000																								0							SO:0001583	missense			ENST00000400191.3	1	1	hg19		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.9	4.346203	0.82022	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.03689	3.84;3.84;3.84;3.84;3.84	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.17238	0.0414	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.89917	0.913;1.0;1.0;1.0	B;D;D;D	0.76575	0.369;0.988;0.988;0.969	T	0.00034	-1.2266	10	0.72032	D	0.01	.	17.4346	0.87548	0.0:1.0:0.0:0.0	.	55;55;73;55	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	M	55;55;55;55;55;49	ENSP00000444174:T55M;ENSP00000363761:T55M;ENSP00000383053:T55M;ENSP00000363763:T55M;ENSP00000363758:T49M	ENSP00000363755:T55M	T	+	2	0	EPHB2	22983509	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	7.590000	0.82653	2.704000	0.92352	0.484000	0.47621	ACG		TCGA-US-A776-01A-13D-A33T-08	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	0	12	158	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.999166	12	156	0	35	2	0	0	0	0	0	0		-16.286770	1	1	121412	3	32	1	0	1	1	1.765616	1	0.890000	1.980000	0.869707	0.130000	7.000000e-02	0.220000	0.130000	0.143267	0.130000	0	9.000000e-02	1.800000e-01
OR2T4	127074	broad.mit.edu	37	1	248525478	248525478	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:248525478C>T	ENST00000366475.1	+	1	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4			56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)		ATGACCTTCCCCTTCCGTGGA	0.498000																								0							SO:0001583	missense			ENST00000366475.1	0	1	hg19	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234689	0.39498	.	.	ENSG00000196944	ENST00000366475	T	0.38560	1.13	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000280	T	0.53738	0.1815	M	0.85945	2.785	0.09310	N	1	P	0.40731	0.728	P	0.49853	0.624	T	0.53394	-0.8445	10	0.87932	D	0	.	5.5708	0.17196	0.1974:0.6958:0.0:0.1068	.	199	Q8NH00	OR2T4_HUMAN	L	199	ENSP00000355431:P199L	ENSP00000355431:P199L	P	+	2	0	OR2T4	246592101	0.011000	0.17503	0.409000	0.26459	0.693000	0.40251	2.577000	0.46042	1.543000	0.49345	0.585000	0.79938	CCC		TCGA-US-A776-01A-13D-A33T-08	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	0	0	0	8	998	0	174		0	0	0	0	174	2		0	0	0	0	0	2	1	0.989014	8	990	0	172	2	0	0	0	0	0	0		-1.939221	0	1	0	0		1	2	2	4	2.132698	0	0.890000	1.980000	0.895576	0.010000	0	1.000000	0.020000	0.067759	0.010000	0	0	3.000000e-02
CSF3R	1441	broad.mit.edu	37	1	36933510	36933510	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:36933510C>T	ENST00000373106.1	-	14	2324	c.1777G>A	c.(1777-1779)Gcc>Acc	p.A593T	CSF3R_ENST00000361632.4_Missense_Mutation_p.A593T|CSF3R_ENST00000440588.2_Missense_Mutation_p.A593T|CSF3R_ENST00000418048.2_Missense_Mutation_p.A593T|CSF3R_ENST00000373103.1_Missense_Mutation_p.A593T|CSF3R_ENST00000331941.5_Missense_Mutation_p.A593T|CSF3R_ENST00000338937.5_Missense_Mutation_p.A593T|CSF3R_ENST00000373104.1_Missense_Mutation_p.A593T|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)			38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)		Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TACAGACTGGCGGGCTCCAGG	0.617000																								0							SO:0001583	missense			ENST00000373106.1	0	1	hg19	CCDS413.1	.	.	.	.	.	.	.	.	.	.	C	6.595	0.478114	0.12521	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.33	1.81	0.25067	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.744296	0.13828	N	0.359956	T	0.35740	0.0942	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B;P	0.40398	0.469;0.716;0.002;0.469;0.286;0.534	B;B;B;B;B;B	0.32149	0.085;0.141;0.002;0.085;0.034;0.059	T	0.11446	-1.0587	10	0.19590	T	0.45	-9.9329	7.0017	0.24813	0.4645:0.4454:0.0:0.0901	.	593;593;593;593;593;593	Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.;.;.;CSF3R_HUMAN;.;.	T	593	ENSP00000362198:A593T;ENSP00000362196:A593T;ENSP00000362195:A593T;ENSP00000355406:A593T;ENSP00000332180:A593T;ENSP00000401588:A593T;ENSP00000345013:A593T;ENSP00000397568:A593T	ENSP00000332180:A593T	A	-	1	0	CSF3R	36706097	0.002000	0.14202	0.616000	0.29078	0.024000	0.10985	0.204000	0.17335	0.573000	0.29400	0.655000	0.94253	GCC		TCGA-US-A776-01A-13D-A33T-08	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	0	0	0	5	443	0	78	0	2.060318e-04	0	2	0	78	2		0	0	0	0	0	2	1	0.932920	5	430	0	77	2	0	0	0	0	0	0		-2.511978	1	1	121410	4	40	1	1	2	3	2.479099	1	0.890000	1.980000	0.908691	0.030000	0	1.000000	0.030000	0.267521	0.030000	0	1.000000e-02	1
PTCH2	8643	broad.mit.edu	37	1	45297975	45297975	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:45297975C>T	ENST00000372192.3	-	3	434	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PTCH2_ENST00000447098.2_Missense_Mutation_p.E102K	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2			50	Acute lymphoblastic leukemia(166;0.155)				CCCAGCTTCTCCTTGGTGTAA	0.602000									Basal Cell Nevus syndrome															0							SO:0001583	missense	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	ENST00000372192.3	0	1	hg19	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.147753	0.57151	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92911	-3.12;-3.13	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000175	D	0.90113	0.6911	L	0.31294	0.92	0.51233	D	0.999915	P	0.51537	0.946	P	0.55161	0.77	D	0.86497	0.1801	10	0.06099	T	0.92	-0.1502	16.5237	0.84324	0.0:1.0:0.0:0.0	.	102	Q9Y6C5	PTC2_HUMAN	K	102	ENSP00000389703:E102K;ENSP00000361266:E102K	ENSP00000361266:E102K	E	-	1	0	PTCH2	45070562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.516000	0.53436	2.425000	0.82216	0.561000	0.74099	GAG		TCGA-US-A776-01A-13D-A33T-08	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	0	0	0	10	1324	0	194		0	0	0	0	194	2		0	0	0	0	0	2	1	0.996501	10	1295	0	192	2	0	0	0	0	0	0		-2.173190	0	1	121412	14	44	1	1	2	3	2.479099	1	0.890000	1.980000	0.908691	0.020000	0	1.000000	0.020000	0.259641	0.020000	0	1.000000e-02	1
CYP4B1	1580	broad.mit.edu	37	1	47284367	47284367	+	Missense_Mutation	SNP	C	C	T	rs138678209	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:47284367C>T	ENST00000271153.4	+	12	1453	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	CYP4B1_ENST00000371919.4_Missense_Mutation_p.R459C|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R474C|CYP4B1_ENST00000452782.2_Missense_Mutation_p.R311C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1			36	Acute lymphoblastic leukemia(166;0.155)			Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	GTGCTTGCTCCGCTTTGAGTT	0.557000																								0							SO:0001583	missense			ENST00000271153.4	1	1	hg19	CCDS542.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.04	1.818235	0.32145	9.08E-4	0.0	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.8	3.93	0.45458	.	0.266510	0.42053	D	0.000771	T	0.81422	0.4819	M	0.79258	2.445	0.23266	N	0.998011	D;P;P	0.76494	0.999;0.791;0.826	D;B;P	0.64877	0.93;0.432;0.568	T	0.73418	-0.3989	9	.	.	.	.	11.5076	0.50476	0.1254:0.8094:0.0:0.0652	.	459;474;473	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	C	474;473;459;311	ENSP00000360991:R474C;ENSP00000271153:R473C;ENSP00000360987:R459C;ENSP00000400413:R311C	.	R	+	1	0	CYP4B1	47056954	0.154000	0.22792	0.437000	0.26809	0.002000	0.02628	1.217000	0.32455	0.801000	0.34066	-0.152000	0.13540	CGC		TCGA-US-A776-01A-13D-A33T-08	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	1	0	1	377	326	0	99	0	0	0	1	0	99	2		0	0	0	0	0	2	1	1.000000	372	321	0	98	2	0	0	0	0	0	0		-20.000000	1	1	121412	13	47	1	1	2	3	2.479099	1	0.890000	1.980000	0.908691	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PARS2	25973	broad.mit.edu	37	1	55223794	55223794	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:55223794G>A	ENST00000371279.3	-	2	1123	c.1041C>T	c.(1039-1041)atC>atT	p.I347I		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)			15				L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542000																								0							SO:0001819	synonymous_variant			ENST00000371279.3	1	1	hg19	CCDS597.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	1	0	1	349	316	0	85	1	9.997151e-01	6	9	0	85	2		0	0	0	0	0	2	1	1.000000	346	313	0	84	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.479099	1	0.890000	1.980000	0.908691	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C8A	731	broad.mit.edu	37	1	57333282	57333282	+	Splice_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57333282G>A	ENST00000361249.3	+	2	174	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide			43					CTTTCTTTAGGAGAGTAAGAC	0.458000																								0							SO:0001630	splice_region_variant			ENST00000361249.3	1	0	hg19	CCDS606.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	1	0	0	53	301	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	1.000000	53	297	0	45	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.479099	1	0.890000	1.980000	0.908691	0.420000	3.100000e-01	1.000000	0.410000	0.552520	0.420000	0	3.600000e-01	1
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:57383364G>A	ENST00000361249.3	+	11	1826	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide			43					TGTCCAGGGCGGAAAGTACAG	0.557000																								0							SO:0001583	missense			ENST00000361249.3	0	1	hg19	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063564	0.36373	.	.	ENSG00000157131	ENST00000361249	T	0.52057	0.68	4.82	-6.34	0.01982	.	1.636630	0.02956	N	0.142483	T	0.24736	0.0600	N	0.16478	0.41	0.09310	N	1	P	0.46220	0.874	B	0.35688	0.208	T	0.29882	-0.9997	10	0.21014	T	0.42	0.9078	8.9304	0.35666	0.4956:0.1035:0.4009:0.0	.	577	P07357	CO8A_HUMAN	Q	577	ENSP00000354458:R577Q	ENSP00000354458:R577Q	R	+	2	0	C8A	57155952	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.804000	0.01738	-1.030000	0.03312	-0.251000	0.11542	CGG		TCGA-US-A776-01A-13D-A33T-08	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	0	0	0	10	326	0	38	0	1.152013e-03	0	2	0	38	2		0	0	0	0	0	2	1	0.996803	10	322	0	37	2	0	0	0	0	0	0		-3.165681	1	1	121412	5	36	1	1	2	3	2.479099	1	0.890000	1.980000	0.908691	0.090000	3.000000e-02	1.000000	0.080000	0.307735	0.090000	0	6.000000e-02	1
LRRC8D	55144	broad.mit.edu	37	1	90399492	90399492	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:90399492G>A	ENST00000337338.5	+	3	1272	c.865G>A	c.(865-867)Gag>Aag	p.E289K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.E289K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D			29		all_lung(203;0.0894)|Lung NSC(277;0.227)			AGCCCTGTTTGAGAAAGTGAG	0.408000																								0							SO:0001583	missense			ENST00000337338.5	1	1	hg19	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419386	0.83559	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.43688	0.94;0.94	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60596	-0.7232	9	.	.	.	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	289	Q7L1W4	LRC8D_HUMAN	K	289	ENSP00000338887:E289K;ENSP00000378093:E289K	.	E	+	1	0	LRRC8D	90172080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.782000	0.95742	0.655000	0.94253	GAG		TCGA-US-A776-01A-13D-A33T-08	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	1	0	1	24	173	0	32	1	8.888364e-01	5	25	0	32	2		0	0	0	0	0	2	1	1.000000	24	172	0	32	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.474716	1	0.890000	1.980000	0.909361	0.360000	2.200000e-01	1.000000	0.330000	0.501632	0.360000	0	2.800000e-01	1
H6PD	9563	broad.mit.edu	37	1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	rs113495544	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)			23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			TTCCATGGCCGGAAGAATTTC	0.597000																								0							SO:0001583	missense			ENST00000377403.2	0	1	hg19	CCDS101.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.147	1.015316	0.19355	2.27E-4	0.0	ENSG00000049239	ENST00000377403	D	0.98207	-4.79	5.53	3.65	0.41850	.	0.309965	0.34002	N	0.004350	D	0.94305	0.8170	L	0.38175	1.15	0.33590	D	0.60101	B	0.30741	0.293	B	0.15052	0.012	D	0.94300	0.7536	10	0.28530	T	0.3	-23.6496	8.8895	0.35425	0.2291:0.0:0.7709:0.0	.	469	O95479	G6PE_HUMAN	Q	469	ENSP00000366620:R469Q	ENSP00000366620:R469Q	R	+	2	0	H6PD	9246545	0.961000	0.32948	0.509000	0.27700	0.417000	0.31264	1.618000	0.36954	1.339000	0.45563	0.561000	0.74099	CGG		TCGA-US-A776-01A-13D-A33T-08	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	0	0	0	10	760	0	183	0	9.103176e-03	0	10	0	183	2		0	0	0	0	0	2	1	0.996597	10	746	0	183	2	0	0	0	0	0	0		-1.725505	0	1	121412	69	54	1	0	1	1	1.660765	1	0.890000	1.980000	0.860909	0.020000	0	0.040000	0.030000	0.024970	0.020000	0	0	4.000000e-02
FASTKD5	60493	broad.mit.edu	37	20	3128950	3128950	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3128950C>T	ENST00000380266.3	-	2	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5			19					AGGTACTTTGCGGCCTAAGTA	0.393000																								0							SO:0001583	missense			ENST00000380266.3	0	1	hg19	CCDS13048.1	.	.	.	.	.	.	.	.	.	.	C	2.372	-0.344047	0.05208	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	5.77	-5.54	0.02544	.	0.210965	0.36854	N	0.002379	T	0.07234	0.0183	N	0.20986	0.625	0.09310	N	0.999996	B	0.17268	0.021	B	0.10450	0.005	T	0.35895	-0.9770	10	0.13470	T	0.59	.	7.9106	0.29789	0.0985:0.4191:0.0:0.4824	.	256	Q7L8L6	FAKD5_HUMAN	H	256	ENSP00000369618:R256H	ENSP00000369618:R256H	R	-	2	0	FASTKD5	3076950	0.000000	0.05858	0.084000	0.20598	0.068000	0.16541	-0.182000	0.09726	-1.106000	0.03008	-0.459000	0.05422	CGC		TCGA-US-A776-01A-13D-A33T-08	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077701.2	0	0	0	5	338	0	41	0	8.539737e-02	0	27	0	41	2		0	0	0	0	0	2	1	0.936042	5	334	0	41	2	0	0	0	0	0	0		-3.011069	1	1	121384	1	37	1	1	2	3	2.474946	1	0.890000	1.980000	0.909027	0.040000	0	1.000000	0.050000	0.276934	0.040000	0	2.000000e-02	1
SIGLEC1	6614	broad.mit.edu	37	20	3682127	3682127	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:3682127G>A	ENST00000344754.4	-	6	1389	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R464C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin			70					CCACTGAAGCGTGGGCTGTGA	0.607000																								0							SO:0001583	missense			ENST00000344754.4	1	1	hg19	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365905	0.61513	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.80214	-1.35;-1.35	5.69	4.68	0.58851	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000902	D	0.90232	0.6946	M	0.90309	3.105	0.50467	D	0.999875	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.90798	0.4692	10	0.59425	D	0.04	.	11.0231	0.47730	0.0:0.0:0.7041:0.2959	.	464;464	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	C	464	ENSP00000341141:R464C;ENSP00000202578:R464C	ENSP00000202578:R464C	R	-	1	0	SIGLEC1	3630127	0.977000	0.34250	0.968000	0.41197	0.533000	0.34776	1.794000	0.38774	2.676000	0.91093	0.655000	0.94253	CGC		TCGA-US-A776-01A-13D-A33T-08	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	0	0	19	467	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	0.999991	18	465	0	59	2	0	0	0	0	0	0		-18.087660	1	1	121412	4	40	1	1	2	3	2.474946	1	0.890000	1.980000	0.909027	0.110000	6.000000e-02	1.000000	0.100000	0.326031	0.110000	0	8.000000e-02	1
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	p.R201C(228)|p.R844C(9)|p.R201S(5)		441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	242	Substitution - Missense(242)						SO:0001583	missense			ENST00000371085.3	1	1	hg19	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		TCGA-US-A776-01A-13D-A33T-08	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	1	0	1	203	143	0	66	1	1	1690	838	0	66	2	1	1	417	230	0	463	2	1	1.000000	202	143	0	65	2	0	0	0	0	0	0		-20.000000	1	1	121412	1	31	1	0	2	2	2.103909	1	0.890000	1.980000	0.890000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNF831	128611	broad.mit.edu	37	20	57766735	57766735	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:57766735G>A	ENST00000371030.2	+	1	661	c.661G>A	c.(661-663)Gga>Aga	p.G221R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				GGACAAGGCCGGAGAGCCCCC	0.701000																								0							SO:0001583	missense			ENST00000371030.2	0	1	hg19	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585600	0.28268	.	.	ENSG00000124203	ENST00000371030	T	0.05139	3.49	4.89	3.92	0.45320	.	.	.	.	.	T	0.03783	0.0107	L	0.27053	0.805	0.09310	N	1	P	0.43885	0.82	B	0.26517	0.07	T	0.41448	-0.9508	9	0.38643	T	0.18	-0.5148	9.5927	0.39557	0.0805:0.1439:0.7756:0.0	.	221	Q5JPB2	ZN831_HUMAN	R	221	ENSP00000360069:G221R	ENSP00000360069:G221R	G	+	1	0	ZNF831	57200130	0.059000	0.20769	0.001000	0.08648	0.252000	0.25951	1.423000	0.34837	1.030000	0.39839	0.561000	0.74099	GGA		TCGA-US-A776-01A-13D-A33T-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	0	0	5	356	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.936116	5	352	0	59	2	0	0	0	0	0	0		-2.967561	1	1	120378	1	33	1	0	2	2	2.103909	1	0.890000	1.980000	0.890000	0.030000	0	1.000000	0.040000	0.265408	0.030000	0	1.000000e-02	1
LAMA5	3911	broad.mit.edu	37	20	60891034	60891034	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr20:60891034C>A	ENST00000252999.3	-	58	7903	c.7837G>T	c.(7837-7839)Gcg>Tcg	p.A2613S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5			81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		GCCTGCGCCGCCTGGATGTGC	0.692000																								0							SO:0001583	missense			ENST00000252999.3	0	1	hg19	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	4.443	0.081997	0.08533	.	.	ENSG00000130702	ENST00000252999	T	0.18338	2.22	4.24	3.29	0.37713	.	0.752565	0.11809	U	0.527370	T	0.07188	0.0182	N	0.05124	-0.11	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.40117	-0.9580	10	0.08179	T	0.78	.	8.0425	0.30529	0.0:0.8833:0.0:0.1167	.	2613	O15230	LAMA5_HUMAN	S	2613	ENSP00000252999:A2613S	ENSP00000252999:A2613S	A	-	1	0	LAMA5	60324429	0.000000	0.05858	0.009000	0.14445	0.039000	0.13416	0.166000	0.16583	0.768000	0.33290	0.486000	0.48141	GCG		TCGA-US-A776-01A-13D-A33T-08	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	0	0	0	5	86	0	12	0	5.749784e-02	0	6	0	12	2		0	0	0	0	0	2	1	0.939343	5	86	0	12	2	0	0	0	0	0	0		-9.150687	1	1	0	0		1	0	2	2	2.103909	1	0.890000	1.980000	0.890000	0.150000	5.000000e-02	1.000000	0.120000	0.347930	0.150000	0	9.000000e-02	1
TMPRSS15	5651	broad.mit.edu	37	21	19715919	19715919	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:19715919G>C	ENST00000284885.3	-	12	1365	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15			85					CCATATTTTGGTCATTGCTGA	0.308000																								0							SO:0001583	missense			ENST00000284885.3	0	1	hg19	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	0.176	-1.067030	0.01934	.	.	ENSG00000154646	ENST00000284885	T	0.01998	4.51	5.2	-1.59	0.08453	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.623886	0.16306	N	0.220238	T	0.01156	0.0038	N	0.17082	0.46	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.47169	-0.9138	9	.	.	.	.	1.0118	0.01498	0.2894:0.1005:0.3249:0.2853	.	444	P98073	ENTK_HUMAN	E	444	ENSP00000284885:D444E	.	D	-	3	2	TMPRSS15	18637790	0.000000	0.05858	0.917000	0.36280	0.711000	0.40976	-0.655000	0.05348	0.008000	0.14787	0.460000	0.39030	GAC		TCGA-US-A776-01A-13D-A33T-08	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	0	0	0	6	436	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.964219	6	432	0	78	2	0	0	0	0	0	0		-3.083586	1	1	0	0		1	0	0	0	2.013088	0	0.890000	1.980000	0.890000	0.020000	0	0.070000	0.040000	0.034729	0.020000	0	1.000000e-02	5.000000e-02
UMODL1	89766	broad.mit.edu	37	21	43529716	43529716	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:43529716G>A	ENST00000408910.2	+	10	1564	c.1564G>A	c.(1564-1566)Gct>Act	p.A522T	UMODL1_ENST00000400427.1_Missense_Mutation_p.A450T|UMODL1_ENST00000408989.2_Missense_Mutation_p.A522T|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400424.2_Missense_Mutation_p.A450T	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1			47					CTGCTCACCGGCTGCCTGGTG	0.627000													Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)											0							SO:0001583	missense			ENST00000408910.2	0	1	hg19	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	6.981	0.551127	0.13374	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.92149	-1.54;-2.98;-1.54;-2.98	3.23	1.34	0.21922	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	1.885950	0.03158	N	0.168966	D	0.87010	0.6071	N	0.16790	0.44	0.09310	N	1	B;B	0.32753	0.383;0.055	B;B	0.40009	0.316;0.093	T	0.77357	-0.2618	10	0.27785	T	0.31	-3.9791	5.9046	0.18986	0.2526:0.0:0.7474:0.0	.	522;522	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	T	450;450;522;522	ENSP00000383279:A450T;ENSP00000383276:A450T;ENSP00000386126:A522T;ENSP00000386147:A522T	ENSP00000383276:A450T	A	+	1	0	UMODL1	42402785	0.000000	0.05858	0.006000	0.13384	0.003000	0.03518	0.384000	0.20668	0.364000	0.24374	-0.150000	0.13652	GCT		TCGA-US-A776-01A-13D-A33T-08	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2	0	0	0	6	640	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	0.963721	6	632	0	88	2	0	0	0	0	0	0		-2.677772	1	1	0	0		1	1	2	3	2.461527	1	0.890000	1.980000	0.908011	0.020000	0	1.000000	0.020000	0.260362	0.020000	0	1.000000e-02	1
PFKL	5211	broad.mit.edu	37	21	45732983	45732983	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:45732983C>T	ENST00000349048.4	+	5	605	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	PFKL_ENST00000403390.1_Missense_Mutation_p.R231C|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver			23					GGCCCTCCACCGCATCATGGA	0.672000																								0							SO:0001583	missense			ENST00000349048.4	1	1	hg19	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299706	0.81136	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.80738	-1.41;-1.41	4.77	4.77	0.60923	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92671	0.6150	10	0.87932	D	0	-34.907	11.7811	0.52016	0.1762:0.8238:0.0:0.0	.	184;231	P17858;P17858-2	K6PL_HUMAN;.	C	184;234;231	ENSP00000269848:R184C;ENSP00000384038:R231C	ENSP00000269848:R184C	R	+	1	0	PFKL	44557411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.217000	0.32455	2.200000	0.70718	0.491000	0.48974	CGC		TCGA-US-A776-01A-13D-A33T-08	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1	1	0	0	29	540	1	122	1	8.812343e-01	16	289	1	122	11		0	0	0	0	0	2	1	0.980802	29	529	1	121	16	0	0	0	0	0	0		-2.773464	1	1	0	0		1	1	2	3	2.129519	0	0.890000	1.980000	0.892861	0.110000	7.000000e-02	1.000000	0.120000	0.162461	0.110000	0	9.000000e-02	1.500000e-01
PCBP3	54039	broad.mit.edu	37	21	47360016	47360016	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr21:47360016A>C	ENST00000400314.1	+	15	1320	c.982A>C	c.(982-984)Aaa>Caa	p.K328Q	PCBP3_ENST00000400304.1_Missense_Mutation_p.K318Q|PCBP3_ENST00000400309.1_Missense_Mutation_p.K327Q|PCBP3_ENST00000449640.1_Missense_Mutation_p.K328Q|PCBP3_ENST00000400310.1_Missense_Mutation_p.K308Q|PCBP3_ENST00000400308.1_Missense_Mutation_p.K302Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3			17	all_hematologic(128;0.24)				AGCTCAGATCAAAATCGCCAA	0.522000																								0							SO:0001583	missense			ENST00000400314.1	1	1	hg19	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102102	0.76983	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	4.19	3.04	0.35103	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.255699	0.38778	N	0.001576	T	0.42223	0.1193	L	0.45051	1.395	0.54753	D	0.999989	D;D;D;D;P	0.89917	1.0;1.0;0.987;1.0;0.919	D;D;P;D;P	0.91635	0.999;0.998;0.805;0.995;0.73	T	0.09292	-1.0681	10	0.31617	T	0.26	-15.0996	9.4418	0.38673	0.9154:0.0:0.0846:0.0	.	318;302;327;328;308	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	Q	328;308;327;302;328;308;279;318	ENSP00000383168:K328Q;ENSP00000383165:K308Q;ENSP00000383164:K327Q;ENSP00000383163:K302Q;ENSP00000401198:K328Q;ENSP00000383160:K279Q;ENSP00000383159:K318Q	ENSP00000330225:K308Q	K	+	1	0	PCBP3	46184444	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.536000	0.90627	0.670000	0.31165	0.448000	0.29417	AAA		TCGA-US-A776-01A-13D-A33T-08	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2	1	0	1	53	390	0	70	0	1.496448e-02	0	2	0	70	2		0	0	0	0	0	2	1	1.000000	53	385	0	67	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.129519	0	0.890000	1.980000	0.892861	0.270000	2.000000e-01	1.000000	0.270000	0.313719	0.270000	0	2.300000e-01	3.200000e-01
CLTCL1	8218	broad.mit.edu	37	22	19196594	19196594	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:19196594G>A	ENST00000263200.10	-	21	3352	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1094W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1094W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1			49	Colorectal(54;0.0993)				TCATATGCCCGGTCCAGGTTT	0.498000			T	?	ALCL										Dom	yes		22	22q11.21	8218	clathrin, heavy polypeptide-like 1		L	0							SO:0001583	missense			ENST00000263200.10	0	1	hg19	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128893	0.56721	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.21543	2.0;2.0;2.0	4.0	2.97	0.34412	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.55386	0.1917	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.982	T	0.67154	-0.5742	10	0.87932	D	0	-7.0273	12.2682	0.54691	0.0:0.0:0.8092:0.1907	.	1094;1094	P53675-2;P53675	.;CLH2_HUMAN	W	1094	ENSP00000439662:R1094W;ENSP00000445677:R1094W;ENSP00000441158:R1094W	ENSP00000445677:R1094W	R	-	1	2	CLTCL1	17576594	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	5.690000	0.68241	0.812000	0.34326	0.655000	0.94253	CGG		TCGA-US-A776-01A-13D-A33T-08	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	0	0	0	3	53	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	0.800900	2	52	0	14	2	0	0	0	0	0	0		-4.112905	1	0	120932	1	34	1	1	2	3	2.103575	0	0.890000	1.980000	0.892394	0.140000	3.000000e-02	1.000000	0.120000	0.190050	0.140000	0	8.000000e-02	2.500000e-01
AIFM3	150209	broad.mit.edu	37	22	21332002	21332002	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:21332002C>T	ENST00000399167.2	+	15	1536	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	AIFM3_ENST00000399163.2_Silent_p.A432A|AIFM3_ENST00000405089.1_Silent_p.A438A|AIFM3_ENST00000335375.5_Silent_p.A420A|AIFM3_ENST00000440238.2_Silent_p.A432A|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.A432A	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3			21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		CAGTGCCCGCCACAGGCTTCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000399167.2	0	1	hg19	CCDS13786.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	0	0	0	7	466	0	92	1	8.649785e-01	5	237	0	92	2		0	0	0	0	0	2	1	0.978582	7	452	0	90	2	0	0	0	0	0	0		-6.192393	1	1	0	0		1	1	2	3	2.103575	0	0.890000	1.980000	0.892394	0.030000	0	1.000000	0.040000	0.074876	0.030000	0	1.000000e-02	6.000000e-02
DEPDC5	9681	broad.mit.edu	37	22	32229984	32229984	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr22:32229984A>G	ENST00000536766.1	+	22	2041	c.1870A>G	c.(1870-1872)Act>Gct	p.T624A	DEPDC5_ENST00000382111.2_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000382112.3_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5			63					GGGGCAGCTGACTGGGGAAAG	0.502000																								0							SO:0001583	missense			ENST00000536766.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	A	12.92	2.082595	0.36758	.	.	ENSG00000100150	ENST00000536766	T	0.29917	1.55	5.56	-2.4	0.06583	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30822	-0.9965	7	.	.	.	.	7.1367	0.25533	0.2435:0.0:0.593:0.1635	.	624	F5GYZ8	.	A	624	ENSP00000441358:T624A	.	T	+	1	0	DEPDC5	30559984	0.000000	0.05858	0.000000	0.03702	0.530000	0.34684	-0.267000	0.08619	-0.416000	0.07473	0.450000	0.29827	ACT		TCGA-US-A776-01A-13D-A33T-08	DEPDC5-206	KNOWN	basic	protein_coding	protein_coding		0	0	0	6	875	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	0.964027	6	867	0	134	2	0	0	0	0	0	0		-4.330169	1	0	0	0		1	1	2	3	2.099457	0	0.890000	1.980000	0.892394	0.010000	0	1.000000	0.020000	0.058162	0.010000	0	0	3.000000e-02
MARCO	8685	broad.mit.edu	37	2	119739962	119739962	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:119739962C>A	ENST00000327097.4	+	12	1174	c.1039C>A	c.(1039-1041)Ctg>Atg	p.L347M	MARCO_ENST00000541757.1_Missense_Mutation_p.L269M	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure			70					AGCCACAGGCCTGAAAGGAAG	0.562000													GBM(8;18 374 7467 11269 32796)											0							SO:0001583	missense			ENST00000327097.4	1	1	hg19	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	C	6.959	0.546757	0.13312	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.93712	-3.27;-3.27	4.96	-7.28	0.01456	.	1.405680	0.04250	N	0.338481	D	0.86062	0.5843	L	0.45137	1.4	0.09310	N	1	P	0.34546	0.456	B	0.29716	0.106	T	0.76589	-0.2904	9	.	.	.	.	4.354	0.11169	0.4457:0.1275:0.3468:0.08	.	347	Q9UEW3	MARCO_HUMAN	M	347;347;269	ENSP00000318916:L347M;ENSP00000441769:L269M	.	L	+	1	2	MARCO	119456432	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-4.595000	0.00211	-0.929000	0.03757	-0.182000	0.12963	CTG		TCGA-US-A776-01A-13D-A33T-08	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	1	0	1	133	665	0	166	0	0	0	1	0	166	2		0	0	0	0	0	2	1	1.000000	133	652	0	157	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.698581	1	0.890000	1.980000	0.867613	0.300000	2.500000e-01	0.360000	0.310000	0.312692	0.300000	0	2.800000e-01	3.400000e-01
DARS	1615	broad.mit.edu	37	2	136680484	136680484	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:136680484G>A	ENST00000264161.4	-	9	896	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DARS_ENST00000537273.1_Silent_p.A127A	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase			15				L-Aspartic Acid(DB00128)	CTCCTTCACTGGCAGCTGAAA	0.328000																								0							SO:0001819	synonymous_variant			ENST00000264161.4	1	1	hg19	CCDS2180.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	1	0	0	24	211	0	45	1	9.813848e-01	11	48	0	45	2		0	0	0	0	0	2	1	1.000000	24	210	0	45	2	0	0	0	0	0	0		-3.221899	1	1	0	0		1	0	1	1	1.660980	1	0.890000	1.980000	0.869016	0.190000	1.200000e-01	0.270000	0.190000	0.198942	0.190000	0	1.500000e-01	2.400000e-01
EVX2	344191	broad.mit.edu	37	2	176948170	176948170	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:176948170G>A	ENST00000308618.4	-	1	471	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2			16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)		GCTCATGTCGGCCTCAGCGGC	0.662000																								0							SO:0001583	missense			ENST00000308618.4	0	1	hg19	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582621	0.86748	.	.	ENSG00000174279	ENST00000308618	D	0.91740	-2.9	5.43	5.43	0.79202	.	0.185889	0.47455	D	0.000233	D	0.92231	0.7536	L	0.43923	1.385	0.49798	D	0.999827	P	0.52463	0.953	P	0.50109	0.631	D	0.92876	0.6319	10	0.66056	D	0.02	-11.2309	19.2581	0.93955	0.0:0.0:1.0:0.0	.	112	Q03828	EVX2_HUMAN	V	112	ENSP00000312385:A112V	ENSP00000312385:A112V	A	-	2	0	EVX2	176656416	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.547000	0.85894	0.655000	0.94253	GCC		TCGA-US-A776-01A-13D-A33T-08	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1	0	0	0	4	159	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.892782	5	159	0	33	2	0	0	0	0	0	0		-6.372999	1	1	0	0		1	0	1	1	1.653116	1	0.890000	1.980000	0.869707	0.040000	1.000000e-02	0.110000	0.050000	0.057384	0.040000	0	2.000000e-02	8.000000e-02
KCNS3	3790	broad.mit.edu	37	2	18112885	18112885	+	Missense_Mutation	SNP	G	G	A	rs144701569		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:18112885G>A	ENST00000403915.1	+	3	1061	c.610G>A	c.(610-612)Gtt>Att	p.V204I	KCNS3_ENST00000304101.4_Missense_Mutation_p.V204I|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3			32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				GGCCATGTGCGTTCACAGCAT	0.552000																								0							SO:0001583	missense			ENST00000403915.1	0	1	hg19	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	1.511	-0.549535	0.03996	2.27E-4	1.16E-4	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.97455	-4.39;-4.39	6.07	-2.27	0.06846	.	0.373102	0.28865	N	0.013885	D	0.88603	0.6481	N	0.02420	-0.555	0.23712	N	0.997041	B	0.06786	0.001	B	0.04013	0.001	T	0.77643	-0.2511	10	0.39692	T	0.17	.	13.6407	0.62249	0.75:0.0:0.25:0.0	.	204	Q9BQ31	KCNS3_HUMAN	I	204	ENSP00000385968:V204I;ENSP00000305824:V204I	ENSP00000305824:V204I	V	+	1	0	KCNS3	17976366	0.851000	0.29673	0.002000	0.10522	0.531000	0.34715	1.304000	0.33482	-0.533000	0.06323	-1.553000	0.00894	GTT		TCGA-US-A776-01A-13D-A33T-08	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	0	0	0	4	206	0	48	0	6.220999e-03	0	5	0	48	2		0	0	0	0	0	2	1	0.888935	4	204	0	48	2	0	0	0	0	0	0		-3.078726	1	1	121412	13	42	1	0	1	1	1.788231	1	0.890000	1.980000	0.869707	0.030000	0	0.090000	0.040000	0.044561	0.030000	0	1.000000e-02	6.000000e-02
COL3A1	1281	broad.mit.edu	37	2	189859047	189859047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:189859047C>T	ENST00000304636.3	+	18	1452	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.R428*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1			126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	Collagenase(DB00048)	TCCTGGACTGCGAGGTGGTGC	0.488000																								0							SO:0001587	stop_gained			ENST00000304636.3	0	1	hg19	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	37	6.213619	0.97380	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.56	3.43	0.39272	.	0.000000	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	12.1295	0.53934	0.5667:0.4332:0.0:0.0	.	.	.	.	X	428	.	ENSP00000304408:R428X	R	+	1	2	COL3A1	189567292	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	4.471000	0.60182	1.432000	0.47375	0.655000	0.94253	CGA		TCGA-US-A776-01A-13D-A33T-08	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	0	16	315	0	82	0	9.963097e-01	0	182	0	82	2		0	0	0	0	0	2	1	0.999934	16	312	0	82	2	0	0	0	0	0	0		-4.757635	1	1	0	0		1	0	2	2	1.891037	1	0.890000	1.980000	0.890000	0.110000	6.000000e-02	1.000000	0.110000	0.264169	0.110000	0	8.000000e-02	1
SF3B1	23451	broad.mit.edu	37	2	198266548	198266548	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:198266548T>C	ENST00000335508.6	-	16	2379	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa			633			OV - Ovarian serous cystadenocarcinoma(117;0.246)		AGTATAGTAGTTGGCATATTC	0.323000			Mis		myelodysplastic syndrome										Dom	yes		2	2q33.1	23451	splicing factor 3b, subunit 1, 155kDa		L	0							SO:0001583	missense			ENST00000335508.6	1	1	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243402	0.39697	.	.	ENSG00000115524	ENST00000335508	T	0.63255	-0.03	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	N	0.13327	0.33	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.36817	-0.9732	10	0.19147	T	0.46	.	15.9781	0.80086	0.0:0.0:0.0:1.0	.	763	O75533	SF3B1_HUMAN	S	763	ENSP00000335321:N763S	ENSP00000335321:N763S	N	-	2	0	SF3B1	197974793	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.980000	0.88113	2.171000	0.68590	0.533000	0.62120	AAC		TCGA-US-A776-01A-13D-A33T-08	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2	1	0	1	139	270	0	76	1	1	82	141	0	76	2	1	1	114	266	0	340	2	1	1.000000	137	268	0	76	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	1.891037	1	0.890000	1.980000	0.890000	0.770000	6.600000e-01	1.000000	0.760000	0.804877	0.770000	0	7.100000e-01	1
PROM2	150696	broad.mit.edu	37	2	95944852	95944852	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr2:95944852C>T	ENST00000317620.9	+	10	1367	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	PROM2_ENST00000542147.1_Missense_Mutation_p.R412C|PROM2_ENST00000317668.4_Missense_Mutation_p.R412C|PROM2_ENST00000403131.2_Missense_Mutation_p.R412C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2			32					GGAGAGCAGCCGCCCCTACCT	0.687000																								0							SO:0001583	missense			ENST00000317620.9	0	1	hg19	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595166	0.66219	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.94	4.01	0.46588	.	0.319686	0.26496	N	0.024057	T	0.63988	0.2558	M	0.76574	2.34	0.47698	D	0.999491	D	0.89917	1.0	D	0.65773	0.938	T	0.66578	-0.5888	10	0.59425	D	0.04	-25.1156	11.117	0.48266	0.1839:0.8161:0.0:0.0	.	412	Q8N271	PROM2_HUMAN	C	412	ENSP00000385716:R412C;ENSP00000318520:R412C;ENSP00000318270:R412C;ENSP00000442542:R412C	ENSP00000318270:R412C	R	+	1	0	PROM2	95308579	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.805000	0.47939	2.446000	0.82766	0.609000	0.83330	CGC		TCGA-US-A776-01A-13D-A33T-08	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	0	0	0	23	104	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	23	102	0	19	2	0	0	0	0	0	0		-20.000000	1	1	121218	79	45	1	1	2	3	2.082486	0	0.890000	1.980000	0.891924	0.410000	2.700000e-01	1.000000	0.410000	0.441669	0.410000	0	3.400000e-01	5.100000e-01
CAND2	23066	broad.mit.edu	37	3	12858160	12858160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:12858160C>T	ENST00000456430.2	+	10	1770	c.1729C>T	c.(1729-1731)Cga>Tga	p.R577*	CAND2_ENST00000295989.5_Nonsense_Mutation_p.R484*	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					CACCCTGGCGCGACTTCGTGC	0.642000													GBM(43;676 868 1633 6395 37496)											0							SO:0001587	stop_gained			ENST00000456430.2	0	1	hg19	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428020	0.83667	0.0	1.18E-4	ENSG00000144712	ENST00000295989;ENST00000456430	.	.	.	5.12	3.12	0.35913	.	0.061071	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0891	10.3459	0.43906	0.5379:0.4621:0.0:0.0	.	.	.	.	X	484;577	.	ENSP00000295989:R484X	R	+	1	2	CAND2	12833160	0.261000	0.24063	0.649000	0.29536	0.195000	0.23768	0.832000	0.27490	1.153000	0.42468	-0.310000	0.09108	CGA		TCGA-US-A776-01A-13D-A33T-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	1	67	378	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	67	372	0	76	2	0	0	0	0	0	0		-20.000000	1	1	121156	4	39	1	1	2	3	2.032751	0	0.890000	1.980000	0.890487	0.330000	2.600000e-01	0.420000	0.340000	0.343281	0.330000	0	2.900000e-01	3.800000e-01
LRRN1	57633	broad.mit.edu	37	3	3887411	3887411	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:3887411T>A	ENST00000319331.3	+	2	1847	c.1086T>A	c.(1084-1086)aaT>aaA	p.N362K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1			26					CCCTCCCCAATCTGCGTGAGA	0.493000																								0							SO:0001583	missense			ENST00000319331.3	0	1	hg19	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	T	15.84	2.952617	0.53293	.	.	ENSG00000175928	ENST00000319331	T	0.56444	0.46	5.54	0.382	0.16234	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	L	0.45422	1.42	0.43421	D	0.995572	D	0.54772	0.968	P	0.50970	0.655	T	0.39187	-0.9626	10	0.33940	T	0.23	.	10.5818	0.45259	0.0:0.5557:0.0:0.4443	.	362	Q6UXK5	LRRN1_HUMAN	K	362	ENSP00000314901:N362K	ENSP00000314901:N362K	N	+	3	2	LRRN1	3862411	0.893000	0.30496	1.000000	0.80357	0.997000	0.91878	0.012000	0.13287	0.079000	0.16929	0.528000	0.53228	AAT		TCGA-US-A776-01A-13D-A33T-08	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	0	0	0	10	364	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	1	0.996892	10	362	0	65	2	0	0	0	0	0	0		-10.226880	1	1	0	0		1	1	2	3	2.032751	0	0.890000	1.980000	0.890487	0.050000	2.000000e-02	0.110000	0.060000	0.066003	0.050000	0	3.000000e-02	9.000000e-02
WDR6	11180	broad.mit.edu	37	3	49049353	49049353	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:49049353T>C	ENST00000608424.1	+	2	425	c.386T>C	c.(385-387)aTa>aCa	p.I129T	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.I159T|WDR6_ENST00000448293.1_Missense_Mutation_p.I78T			Q9NNW5	WDR6_HUMAN	WD repeat domain 6			26					GAGGGAAATATAGCCTTGGCC	0.557000																								0							SO:0001583	missense			ENST00000608424.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	T	4.790	0.146928	0.09134	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293	T;T;T	0.75938	-0.49;-0.49;-0.98	5.43	5.43	0.79202	WD40 repeat-like-containing domain (1);	0.715972	0.12669	N	0.448892	T	0.62588	0.2440	N	0.19112	0.55	0.09310	N	1	B;B	0.23735	0.003;0.09	B;B	0.16722	0.006;0.016	T	0.54214	-0.8327	10	0.40728	T	0.16	-0.1838	14.4632	0.67465	0.0:0.0:0.0:1.0	.	129;78	Q9NNW5;E9PDU5	WDR6_HUMAN;.	T	159;161;129;78	ENSP00000378857:I159T;ENSP00000387692:I161T;ENSP00000413432:I78T	ENSP00000346247:I129T	I	+	2	0	WDR6	49024357	0.984000	0.35163	0.098000	0.21074	0.245000	0.25701	6.731000	0.74785	2.060000	0.61445	0.459000	0.35465	ATA		TCGA-US-A776-01A-13D-A33T-08	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1	0	0	0	8	379	0	64	0	6.866261e-01	0	110	0	64	2		0	0	0	0	0	2	1	0.989086	8	375	0	64	2	0	0	0	0	0	0		-8.165750	1	1	121412	4	39	1	1	2	3	2.032751	0	0.890000	1.980000	0.890487	0.040000	1.000000e-02	0.090000	0.040000	0.052330	0.040000	0	2.000000e-02	7.000000e-02
ARHGEF3	50650	broad.mit.edu	37	3	56789016	56789016	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:56789016C>T	ENST00000296315.3	-	3	536	c.368G>A	c.(367-369)cGt>cAt	p.R123H	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.R155H|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.R129H|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.R94H|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.R129H|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.R123H|ARHGEF3_ENST00000498517.1_5'UTR	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3			25					TACCTCCTGACGTTTGATTTC	0.537000																								0							SO:0001583	missense			ENST00000296315.3	1	1	hg19	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619168	0.96649	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.75050	0.93;0.93;0.93;0.93;0.93;0.93;-0.9;-0.9	5.32	5.32	0.75619	Dbl homology (DH) domain (3);	0.056451	0.64402	D	0.000004	D	0.88190	0.6370	M	0.86097	2.795	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.988;0.993;0.997;0.996;0.998	D	0.89160	0.3529	10	0.62326	D	0.03	-2.6874	19.3999	0.94623	0.0:1.0:0.0:0.0	.	129;94;123;155;123;129	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	H	123;155;129;129;94;123;124;141	ENSP00000296315:R123H;ENSP00000341071:R155H;ENSP00000410922:R129H;ENSP00000420420:R129H;ENSP00000418826:R94H;ENSP00000417986:R123H;ENSP00000417087:R124H;ENSP00000420402:R141H	ENSP00000296315:R123H	R	-	2	0	ARHGEF3	56764056	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	7.770000	0.85390	2.668000	0.90789	0.655000	0.94253	CGT		TCGA-US-A776-01A-13D-A33T-08	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	1	0	0	31	489	0	92	0	3.378645e-02	0	5	0	92	2		0	0	0	0	0	2	1	1.000000	31	486	0	92	2	0	0	0	0	0	0		-7.165264	1	1	0	0		1	1	2	3	2.032751	0	0.890000	1.980000	0.890487	0.130000	8.000000e-02	0.190000	0.140000	0.138338	0.130000	0	1.000000e-01	1.600000e-01
FHIT	2272	broad.mit.edu	37	3	59999777	59999777	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr3:59999777C>A	ENST00000468189.1	-	6	575	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	FHIT_ENST00000476844.1_Missense_Mutation_p.V69L|FHIT_ENST00000492590.1_Missense_Mutation_p.V69L|FHIT_ENST00000341848.4_Missense_Mutation_p.V69L|FHIT_ENST00000466788.1_5'UTR			P49789	FHIT_HUMAN	fragile histidine triad			12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)			TGTTTTTCCACCACTGTCCCG	0.512000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3						Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0							SO:0001583	missense	Familial Cancer Database		ENST00000468189.1	1	1	hg19	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	C	2.453	-0.325961	0.05350	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73	5.96	4.2	0.49525	Histidine triad motif (1);Histidine triad-like motif (1);	0.063315	0.64402	D	0.000007	T	0.80308	0.4599	N	0.11818	0.18	0.43032	D	0.994607	B	0.09022	0.002	B	0.12837	0.008	T	0.71094	-0.4692	9	.	.	.	-20.1739	11.4337	0.50056	0.0:0.8615:0.0:0.1385	.	69	P49789	FHIT_HUMAN	L	69	ENSP00000418582:V69L;ENSP00000417557:V69L;ENSP00000417480:V69L;ENSP00000342087:V69L;ENSP00000418596:V69L	.	V	-	1	0	FHIT	59974817	1.000000	0.71417	0.992000	0.48379	0.007000	0.05969	2.964000	0.49192	0.875000	0.35847	-0.812000	0.03155	GTG		TCGA-US-A776-01A-13D-A33T-08	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	1	0	1	56	281	0	62	1	9.948812e-01	6	37	0	62	2		0	0	0	0	0	2	1	1.000000	56	277	0	60	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.032751	0	0.890000	1.980000	0.890487	0.370000	2.800000e-01	0.470000	0.380000	0.379388	0.370000	0	3.200000e-01	4.300000e-01
ADH1A	124	broad.mit.edu	37	4	100208113	100208113	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:100208113G>A	ENST00000209668.2	-	3	266	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide			25				Ethanol(DB00898)|Fomepizole(DB01213)	TAACCACGTGGTCATCTGTGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000209668.2	1	1	hg19	CCDS3648.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	0	0	0	42	747	0	143	0	3.020087e-03	0	2	0	143	2		0	0	0	0	0	2	1	0.999114	41	740	1	142	19	0	0	0	0	0	0		-6.662361	1	1	0	0		1	1	2	3	2.089295	0	0.890000	1.980000	0.891924	0.110000	8.000000e-02	1.000000	0.120000	0.149527	0.110000	0	9.000000e-02	1.500000e-01
CENPE	1062	broad.mit.edu	37	4	104104440	104104440	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:104104440G>A	ENST00000265148.3	-	10	840	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	CENPE_ENST00000509120.1_5'Flank|CENPE_ENST00000380026.3_Missense_Mutation_p.R251W	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa			101					TCCTTGAGCCGCACACCTGAA	0.333000																								0							SO:0001583	missense			ENST00000265148.3	0	1	hg19	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187967	0.78789	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.77489	-1.1;-1.1;-1.1	5.09	4.23	0.50019	Kinesin, motor domain (4);	.	.	.	.	D	0.92071	0.7487	H	0.99011	4.4	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.93802	0.7102	9	0.87932	D	0	.	11.2566	0.49058	0.0839:0.0:0.9161:0.0	.	251;251	Q02224-3;Q02224	.;CENPE_HUMAN	W	251	ENSP00000265148:R251W;ENSP00000369365:R251W;ENSP00000423981:R251W	ENSP00000265148:R251W	R	-	1	2	CENPE	104323889	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	3.989000	0.56958	2.347000	0.79759	0.650000	0.86243	CGG		TCGA-US-A776-01A-13D-A33T-08	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	5	257	0	43	0	0	0	1	0	43	2		0	0	0	0	0	2	1	0.936231	5	254	0	42	2	0	0	0	0	0	0		-2.497998	0	1	0	0		1	1	2	3	2.089295	0	0.890000	1.980000	0.891924	0.040000	0	1.000000	0.040000	0.079118	0.040000	0	2.000000e-02	8.000000e-02
PDGFC	56034	broad.mit.edu	37	4	157689020	157689020	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:157689020G>T	ENST00000502773.1	-	5	1316	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	PDGFC_ENST00000541126.1_Missense_Mutation_p.L113M|PDGFC_ENST00000542208.1_Missense_Mutation_p.L121M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C			19	all_hematologic(180;0.24)	Renal(120;0.0458)			CGTTTAACCAGGAGACAACCT	0.448000																								0							SO:0001583	missense			ENST00000502773.1	1	1	hg19	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786502	0.70337	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.48836	2.31;0.81;0.8	5.35	2.69	0.31865	Platelet-derived growth factor (PDGF) (3);	0.000000	0.64402	D	0.000002	T	0.64811	0.2632	M	0.77103	2.36	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65207	-0.6224	10	0.87932	D	0	-11.8977	8.3211	0.32130	0.2934:0.0:0.7066:0.0	.	121;276	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	M	276;113;121	ENSP00000422464:L276M;ENSP00000442943:L113M;ENSP00000439728:L121M	ENSP00000422464:L276M	L	-	1	2	PDGFC	157908470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.866000	0.48420	0.645000	0.30675	0.655000	0.94253	CTG		TCGA-US-A776-01A-13D-A33T-08	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1	1	0	0	41	678	0	116	0	9.985713e-03	0	3	0	116	2		0	0	0	0	0	2	1	1.000000	41	675	0	116	2	0	0	0	0	0	0		-2.774722	1	1	0	0		1	2	2	4	2.493262	1	0.890000	1.980000	0.911312	0.160000	1.100000e-01	1.000000	0.160000	0.320715	0.160000	0	1.300000e-01	1
ZNF595	152687	broad.mit.edu	37	4	59365	59365	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:59365G>A	ENST00000509152.2	+	2	231	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	ZNF595_ENST00000526473.2_Missense_Mutation_p.E16K|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595			20		all_cancers(4;0.0738)|all_epithelial(65;0.139)			ATTCTCCCCTGAAGAGTGGAA	0.423000																								0							SO:0001583	missense			ENST00000509152.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.48	2.845681	0.51164	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.03607	3.87;3.87	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.13243	0.0321	.	.	.	0.23991	N	0.996247	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.06023	-1.0850	8	0.72032	D	0.01	.	7.9738	0.30143	0.0:0.0:1.0:0.0	.	16;16	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	K	16	ENSP00000434858:E16K;ENSP00000437878:E16K	ENSP00000434858:E16K	E	+	1	0	ZNF595	49365	0.808000	0.29022	0.022000	0.16811	0.119000	0.20118	1.629000	0.37071	0.655000	0.30866	0.484000	0.47621	GAA		TCGA-US-A776-01A-13D-A33T-08	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	0	0	0	23	1565	0	437		0	0	0	0	437	2		0	0	0	0	0	2	1	0.999999	23	1545	0	435	2	0	0	0	0	0	0		-2.559146	1	1	0	0		1						0.890000	1.980000									0	0
TMEM175	84286	broad.mit.edu	37	4	952216	952216	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr4:952216G>A	ENST00000264771.4	+	11	1632	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMEM175_ENST00000508204.1_Missense_Mutation_p.E401K|TMEM175_ENST00000515740.1_Missense_Mutation_p.E367K	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175			14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		CGCCCGGCCCGAACACCCCCC	0.741000																								0							SO:0001583	missense			ENST00000264771.4	1	1	hg19	CCDS3341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.977|1.977	-0.434967|-0.434967	0.04669|0.04669	0.002352|0.002352	1.21E-4|1.21E-4	ENSG00000127419|ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204|ENST00000505148	T;T;T|.	0.44482|.	1.54;1.5;0.92|.	4.04|4.04	-0.00485|-0.00485	0.14020|0.14020	.|.	0.969423|.	0.08374|.	U|.	0.955581|.	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	B;B|.	0.20261|.	0.043;0.025|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.31024|0.31024	-0.9958|-0.9958	10|5	0.11485|.	T|.	0.65|.	-1.1234|-1.1234	4.2497|4.2497	0.10689|0.10689	0.0927:0.4443:0.3119:0.1511|0.0927:0.4443:0.3119:0.1511	.|.	401;483|.	D3DVN5;Q9BSA9|.	.;TM175_HUMAN|.	K|Q	483;367;401|319	ENSP00000264771:E483K;ENSP00000427039:E367K;ENSP00000423669:E401K|.	ENSP00000264771:E483K|.	E|R	+|+	1|2	0|0	TMEM175|TMEM175	942216|942216	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.019000|0.019000	0.13444|0.13444	-0.154000|-0.154000	0.11118|0.11118	-0.440000|-0.440000	0.05779|0.05779	GAA|CGA		TCGA-US-A776-01A-13D-A33T-08	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	1	0	1	43	66	0	18	1	1	31	40	0	18	2		0	0	0	0	0	2	1	1.000000	43	62	0	18	2	0	0	0	0	0	0		-20.000000	1	1	117926	20	40	1	1	2	3	2.070500	0	0.890000	1.980000	0.890970	0.890000	6.900000e-01	1.000000	1.000000	0.889290	0.890000	1	7.800000e-01	1
PGGT1B	5229	broad.mit.edu	37	5	114598513	114598513	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:114598513G>A	ENST00000419445.1	-	1	56	c.36C>T	c.(34-36)agC>agT	p.S12S	PGGT1B_ENST00000379615.3_Silent_p.S12S|CTC-428G20.6_ENST00000606615.1_RNA	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit			6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)			CTCCCTCACCGCTCCCTGCTA	0.617000																								0							SO:0001819	synonymous_variant			ENST00000419445.1	0	1	hg19	CCDS4116.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	0	0	0	4	211	0	37	0	8.336205e-02	0	20	0	37	2		0	0	0	0	0	2	1	0.886719	4	207	0	34	2	0	0	0	0	0	0		-5.427309	1	1	0	0		1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.040000	0	0.100000	0.040000	0.049254	0.040000	0	2.000000e-02	7.000000e-02
PRR16	51334	broad.mit.edu	37	5	120022194	120022194	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:120022194T>A	ENST00000407149.2	+	2	914	c.705T>A	c.(703-705)agT>agA	p.S235R	PRR16_ENST00000505123.1_Missense_Mutation_p.S165R|PRR16_ENST00000379551.2_Missense_Mutation_p.S212R|PRR16_ENST00000446965.1_Missense_Mutation_p.S165R			Q569H4	LARGN_HUMAN	proline rich 16			28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)		ACTTACACAGTGAACCTGTCC	0.498000																								0							SO:0001583	missense			ENST00000407149.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672070	0.00758	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.94	-9.87	0.00470	.	0.400671	0.29059	N	0.013275	T	0.29321	0.0730	L	0.44542	1.39	0.21802	N	0.999536	B;B	0.06786	0.001;0.001	B;B	0.12156	0.002;0.007	T	0.20571	-1.0271	9	.	.	.	-0.3315	18.6912	0.91583	0.0:0.1262:0.0786:0.7953	.	235;212	Q569H4;Q569H4-3	PRR16_HUMAN;.	R	235;212;165;165	ENSP00000385118:S235R;ENSP00000368869:S212R;ENSP00000423446:S165R;ENSP00000405491:S165R	.	S	+	3	2	PRR16	120050093	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.104000	0.00294	-4.142000	0.00070	-2.918000	0.00090	AGT		TCGA-US-A776-01A-13D-A33T-08	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	1	0	0	18	256	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.999984	18	255	0	64	2	0	0	0	0	0	0		-19.992990	1	1	0	0		1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.140000	8.000000e-02	0.210000	0.140000	0.147737	0.140000	0	1.000000e-01	1.800000e-01
FBN2	2201	broad.mit.edu	37	5	127673720	127673720	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:127673720G>A	ENST00000508053.1	-	33	4541	c.3567C>T	c.(3565-3567)caC>caT	p.H1189H	FBN2_ENST00000262464.4_Silent_p.H1189H|FBN2_ENST00000508989.1_Silent_p.H1156H|FBN2_ENST00000507835.1_Silent_p.H39H			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		GTGACAGCTCGTGTCCCAGTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000508053.1	1	1	hg19	CCDS34222.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	0	0	0	7	211	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.980798	7	210	0	44	2	0	0	0	0	0	0		-8.651798	1	1	0	0		1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.070000	2.000000e-02	0.140000	0.070000	0.078044	0.070000	0	4.000000e-02	1.000000e-01
PCDHB13	56123	broad.mit.edu	37	5	140595334	140595334	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:140595334G>C	ENST00000341948.4	+	1	1826	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13			66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CGAGGCGCTGGTGCGCGTGGT	0.711000																								0							SO:0001583	missense			ENST00000341948.4	1	1	hg19	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	14.98	2.697594	0.48307	.	.	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.57107	0.42	3.0	1.08	0.20341	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.57475	0.2056	L	0.60012	1.86	0.27453	N	0.953362	D	0.65815	0.995	P	0.59012	0.85	T	0.48758	-0.9007	9	0.23891	T	0.37	.	6.7901	0.23695	0.1012:0.3395:0.5593:0.0	.	547	Q9Y5F0	PCDBD_HUMAN	L	547	ENSP00000345491:V547L	ENSP00000345491:V547L	V	+	1	0	PCDHB13	140575518	0.984000	0.35163	0.014000	0.15608	0.002000	0.02628	2.074000	0.41529	0.106000	0.17784	-0.535000	0.04281	GTG		TCGA-US-A776-01A-13D-A33T-08	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	1	0	1	103	431	0	90		0	0	0	0	90	2		0	0	0	0	0	2	1	1.000000	81	342	0	91	2	0	0	0	0	0	0		-20.000000	1	1	121230	1	31	1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.410000	3.400000e-01	0.490000	0.420000	0.416522	0.410000	0	3.700000e-01	4.500000e-01
ZNF300	91975	broad.mit.edu	37	5	150275578	150275578	+	Missense_Mutation	SNP	G	G	A	rs141369580		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:150275578G>A	ENST00000274599.5	-	6	1643	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	ZNF300_ENST00000446148.2_Missense_Mutation_p.P424L|ZNF300_ENST00000394226.2_Missense_Mutation_p.P408L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.P372L	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300			27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		ACACTCATACGGCTTCTCTCC	0.448000																								0							SO:0001583	missense			ENST00000274599.5	0	1	hg19	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494842	0.64186	2.27E-4	0.0	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	3.87	2.95	0.34219	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	M	0.81614	2.55	0.45946	D	0.998776	D	0.89917	1.0	D	0.77004	0.989	T	0.33624	-0.9861	9	0.87932	D	0	.	10.3154	0.43734	0.0:0.0:0.8014:0.1986	.	408	Q96RE9	ZN300_HUMAN	L	424;408;372;408	ENSP00000397178:P424L;ENSP00000274599:P408L;ENSP00000392593:P372L;ENSP00000377773:P408L	ENSP00000274599:P408L	P	-	2	0	ZNF300	150255771	1.000000	0.71417	0.945000	0.38365	0.930000	0.56654	6.825000	0.75293	0.913000	0.36797	0.591000	0.81541	CCG		TCGA-US-A776-01A-13D-A33T-08	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	0	0	8	398	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	0.989094	8	394	0	58	2	0	0	0	0	0	0		-4.003060	1	1	121400	4	37	1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.040000	1.000000e-02	0.080000	0.040000	0.047488	0.040000	0	2.000000e-02	6.000000e-02
GLRA1	2741	broad.mit.edu	37	5	151208496	151208496	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:151208496G>A	ENST00000455880.2	-	8	1331	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	GLRA1_ENST00000545569.1_Missense_Mutation_p.R266W|GLRA1_ENST00000274576.4_Missense_Mutation_p.R349W			P23415	GLRA1_HUMAN	glycine receptor, alpha 1			23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATGTCTCCGCTTCCTCCTG	0.463000																								0							SO:0001583	missense			ENST00000455880.2	1	1	hg19	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852768	0.71719	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.85861	-2.04;-1.93;-2.04	5.07	1.62	0.23740	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	N	0.14661	0.345	0.45452	D	0.998427	D;D;D	0.65815	0.995;0.994;0.994	P;P;P	0.58820	0.846;0.846;0.761	T	0.82610	-0.0372	10	0.56958	D	0.05	.	13.0356	0.58870	0.0:0.0:0.3181:0.6818	.	349;266;349	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	W	349;349;266	ENSP00000274576:R349W;ENSP00000411593:R349W;ENSP00000445913:R266W	ENSP00000274576:R349W	R	-	1	2	GLRA1	151188689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.019000	0.41001	0.595000	0.29777	0.650000	0.86243	CGG		TCGA-US-A776-01A-13D-A33T-08	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1	0	0	0	27	942	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	1.000000	30	930	0	167	2	0	0	0	0	0	0		-2.455745	0	1	0	0		1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.050000	3.000000e-02	0.090000	0.060000	0.061994	0.050000	0	4.000000e-02	8.000000e-02
GALNT10	55568	broad.mit.edu	37	5	153789282	153789282	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:153789282T>C	ENST00000297107.6	+	9	1483	c.1346T>C	c.(1345-1347)tTc>tCc	p.F449S	SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.F122S|GALNT10_ENST00000377661.2_Missense_Mutation_p.F387S	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10			32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		CTGCCCAAATTCTACCCACCC	0.557000																								0							SO:0001583	missense			ENST00000297107.6	1	1	hg19	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127633	0.37533	.	.	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.61627	0.48;0.57;0.09	5.02	3.82	0.43975	.	0.218754	0.48767	D	0.000180	T	0.25938	0.0632	N	0.02916	-0.46	0.43771	D	0.996297	B;P;P	0.44816	0.27;0.816;0.844	B;B;B	0.35470	0.199;0.203;0.175	T	0.05338	-1.0891	10	0.22109	T	0.4	.	9.2405	0.37493	0.289:0.0:0.0:0.711	.	387;120;449	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	S	449;387;122	ENSP00000297107:F449S;ENSP00000366889:F387S;ENSP00000366885:F122S	ENSP00000297107:F449S	F	+	2	0	GALNT10	153769475	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.897000	0.56273	0.885000	0.36088	0.459000	0.35465	TTC		TCGA-US-A776-01A-13D-A33T-08	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	1	0	1	124	570	0	136	1	9.646493e-01	3	24	0	136	2		0	0	0	0	0	2	1	1.000000	124	567	0	136	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.370000	3.100000e-01	0.450000	0.380000	0.385560	0.370000	0	3.400000e-01	4.200000e-01
C5orf54	0	broad.mit.edu	37	5	159822466	159822466	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:159822466T>C	ENST00000408953.3	-	2	539	c.32A>G	c.(31-33)tAt>tGt	p.Y11C	C5orf54_ENST00000523213.1_Missense_Mutation_p.Y11C	NM_022090.3	NP_071373.2						12					gtagcgaacatagtcatcatc	0.423000																								0							SO:0001583	missense			ENST00000408953.3	1	1	hg19	CCDS34283.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.467596	0.43839	.	.	ENSG00000221886	ENST00000408953;ENST00000523213	T;T	0.29142	1.58;1.58	3.19	3.19	0.36642	.	.	.	.	.	T	0.48960	0.1529	M	0.64170	1.965	0.27059	N	0.963595	D	0.89917	1.0	D	0.87578	0.998	T	0.25222	-1.0138	9	0.72032	D	0.01	.	8.1657	0.31226	0.0:0.0:0.0:1.0	.	11	Q8IZ13	CE054_HUMAN	C	11	ENSP00000386184:Y11C;ENSP00000428831:Y11C	ENSP00000386184:Y11C	Y	-	2	0	C5orf54	159755044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.536000	0.45693	1.706000	0.51276	0.533000	0.62120	TAT		TCGA-US-A776-01A-13D-A33T-08	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374143.1	1	0	1	264	315	0	114	1	9.633460e-01	3	6	0	114	2		0	0	0	0	0	2	1	1.000000	264	313	0	112	2	0	0	0	0	0	0		-2.966611	1	1	121412	14	47	1	0	0	0	1.923820	0	0.890000	1.980000	0.884877	0.970000	8.800000e-01	1.000000	1.000000	0.969733	0.970000	1	9.200000e-01	1
C6	729	broad.mit.edu	37	5	41172372	41172372	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr5:41172372C>T	ENST00000263413.3	-	9	1510	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.V416M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6			96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)			CTATGTTCCACTTTTGTTTTC	0.433000																								0							SO:0001583	missense			ENST00000263413.3	1	1	hg19	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745778	0.69418	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84146	-1.81;-1.81	5.04	4.16	0.48862	Membrane attack complex component/perforin (MACPF) domain (3);	0.379178	0.30820	N	0.008805	D	0.82958	0.5150	N	0.22421	0.69	0.30255	N	0.793737	P	0.52316	0.952	P	0.54924	0.764	T	0.80970	-0.1144	10	0.44086	T	0.13	-3.729	12.8785	0.58003	0.0:0.9193:0.0:0.0807	.	416	P13671	CO6_HUMAN	M	416	ENSP00000338861:V416M;ENSP00000263413:V416M	ENSP00000263413:V416M	V	-	1	0	C6	41208129	0.560000	0.26570	0.046000	0.18839	0.271000	0.26615	3.143000	0.50608	1.229000	0.43630	0.655000	0.94253	GTG		TCGA-US-A776-01A-13D-A33T-08	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1	1	0	1	152	208	0	60	0	3.818238e-01	0	3	0	60	2		0	0	0	0	0	2	1	1.000000	150	207	0	60	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.099438	0	0.890000	1.980000	0.892394	0.960000	8.400000e-01	1.000000	1.000000	0.960030	0.960000	1	9.000000e-01	1
AIM1	202	broad.mit.edu	37	6	106987378	106987378	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:106987378A>T	ENST00000369066.3	+	7	4082	c.3595A>T	c.(3595-3597)Att>Ttt	p.I1199F	AIM1_ENST00000535438.1_5'Flank	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	p.I1199V(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)		AGAAGCGTACATTGGATCCAT	0.443000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000369066.3	1	1	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226532	0.79576	.	.	ENSG00000112297	ENST00000369066	T	0.78595	-1.19	5.66	5.66	0.87406	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.204155	0.50627	D	0.000103	D	0.84584	0.5504	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86093	0.1551	10	0.56958	D	0.05	.	15.9029	0.79397	1.0:0.0:0.0:0.0	.	1199	Q9Y4K1	AIM1_HUMAN	F	1199	ENSP00000358062:I1199F	ENSP00000358062:I1199F	I	+	1	0	AIM1	107094071	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	2.755000	0.47540	2.147000	0.66899	0.533000	0.62120	ATT		TCGA-US-A776-01A-13D-A33T-08	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1	1	0	1	174	322	0	90	1	5.735073e-01	2	3	0	90	2		0	0	0	0	0	2	1	1.000000	172	318	0	89	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.645854	1	0.890000	1.980000	0.870390	0.660000	5.800000e-01	0.750000	0.670000	0.669998	0.660000	0	6.200000e-01	7.100000e-01
VTA1	51534	broad.mit.edu	37	6	142539725	142539725	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:142539725C>A	ENST00000367630.4	+	8	927	c.869C>A	c.(868-870)aCt>aAt	p.T290N	VTA1_ENST00000452973.2_Missense_Mutation_p.T205N|VTA1_ENST00000367621.1_Missense_Mutation_p.T232N	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1			12	Breast(32;0.155)				GATGTAAGCACTGCTGTCCAG	0.438000																								0							SO:0001583	missense			ENST00000367630.4	1	1	hg19	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959933	0.92791	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.56776	0.44;0.44;0.44	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.71986	0.3405	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.72849	-0.4168	10	0.59425	D	0.04	-18.7284	20.3311	0.98718	0.0:1.0:0.0:0.0	.	205;290	E7ETQ7;Q9NP79	.;VTA1_HUMAN	N	290;232;205	ENSP00000356602:T290N;ENSP00000356593:T232N;ENSP00000395767:T205N	ENSP00000356593:T232N	T	+	2	0	VTA1	142581418	1.000000	0.71417	0.998000	0.56505	0.937000	0.57800	7.395000	0.79876	2.803000	0.96430	0.650000	0.86243	ACT		TCGA-US-A776-01A-13D-A33T-08	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	1	0	1	150	121	0	49	1	1	66	34	0	49	2		0	0	0	0	0	2	1	1.000000	145	121	0	49	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.645854	1	0.890000	1.980000	0.870390	0.990000	9.300000e-01	1.000000	1.000000	0.994602	0.990000	1	9.900000e-01	1
GRM1	2911	broad.mit.edu	37	6	146480697	146480697	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:146480697G>A	ENST00000282753.1	+	2	1149	c.914G>A	c.(913-915)cGc>cAc	p.R305H	GRM1_ENST00000492807.2_Missense_Mutation_p.R305H|GRM1_ENST00000355289.4_Missense_Mutation_p.R305H|GRM1_ENST00000507907.1_Missense_Mutation_p.R305H|GRM1_ENST00000361719.2_Missense_Mutation_p.R305H|GRM1_ENST00000392299.2_Missense_Mutation_p.R305H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			GCCATGCGGCGCCTTGGCGTC	0.557000																								0							SO:0001583	missense			ENST00000282753.1	1	1	hg19	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	35	5.490785	0.96339	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.995;0.998	P;D;P;P	0.69824	0.851;0.966;0.908;0.851	D	0.91828	0.5473	10	0.87932	D	0	.	18.9966	0.92815	0.0:0.0:1.0:0.0	.	305;305;300;305	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	305	ENSP00000354896:R305H;ENSP00000376119:R305H;ENSP00000424095:R305H;ENSP00000282753:R305H;ENSP00000347437:R305H;ENSP00000425599:R305H	ENSP00000282753:R305H	R	+	2	0	GRM1	146522390	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.415000	0.97375	2.495000	0.84180	0.655000	0.94253	CGC		TCGA-US-A776-01A-13D-A33T-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	0	17	256	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.999966	18	252	0	57	2	0	0	0	0	0	0		-19.791650	1	1	0	0		1	0	1	1	1.645854	1	0.890000	1.980000	0.870390	0.110000	6.000000e-02	0.180000	0.120000	0.124768	0.110000	0	9.000000e-02	1.500000e-01
PDE10A	10846	broad.mit.edu	37	6	165846554	165846554	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:165846554A>T	ENST00000366882.1	-	8	725	c.571T>A	c.(571-573)Tta>Ata	p.L191I	PDE10A_ENST00000354448.4_Missense_Mutation_p.L191I|PDE10A_ENST00000539869.2_Missense_Mutation_p.L201I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A			71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACAATTGGTAAGCAAAGAACA	0.443000													Esophageal Squamous(22;308 615 5753 12038 40624)											0							SO:0001583	missense			ENST00000366882.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	15.16	2.750654	0.49257	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66995	-0.24;-0.24	5.89	0.478	0.16789	GAF (2);	0.135179	0.51477	D	0.000093	T	0.60573	0.2279	L	0.42245	1.32	0.41174	D	0.986184	D;P	0.76494	0.999;0.551	D;B	0.80764	0.994;0.325	T	0.59873	-0.7372	10	0.40728	T	0.16	.	9.4315	0.38612	0.6971:0.0:0.3029:0.0	.	201;191	Q9ULW9;Q9Y233	.;PDE10_HUMAN	I	191;219;201;191;190	ENSP00000355847:L191I;ENSP00000346435:L191I	ENSP00000341187:L201I	L	-	1	2	PDE10A	165766544	1.000000	0.71417	0.774000	0.31636	0.982000	0.71751	1.261000	0.32980	-0.136000	0.11475	0.477000	0.44152	TTA		TCGA-US-A776-01A-13D-A33T-08	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	1	0	1	73	168	0	58	0	3.566011e-01	0	4	0	58	2		0	0	0	0	0	2	1	1.000000	73	166	0	58	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.662772	1	0.890000	1.980000	0.871066	0.570000	4.600000e-01	0.690000	0.580000	0.583479	0.570000	0	5.200000e-01	6.400000e-01
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3			neurensin 1			22					AGCATTTGGCGAAGCCGATTT	0.507000																								0							SO:0001583	missense			ENST00000378491.4	0	1	hg19	CCDS4549.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990408	0.35131	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.18960	2.18	5.37	5.37	0.77165	.	0.095551	0.64402	D	0.000001	T	0.10508	0.0257	L	0.46157	1.445	0.80722	D	1	B	0.21309	0.054	B	0.12156	0.007	T	0.03025	-1.1081	10	0.41790	T	0.15	-7.9822	12.8894	0.58064	0.0846:0.0:0.9154:0.0	.	95	Q8IZ57	NRSN1_HUMAN	K	95	ENSP00000367752:E95K	ENSP00000367738:E95K	E	+	1	0	NRSN1	24253848	1.000000	0.71417	0.930000	0.37139	0.172000	0.22775	4.652000	0.61454	2.524000	0.85096	0.557000	0.71058	GAA		TCGA-US-A776-01A-13D-A33T-08	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	0	0	0	7	555	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.978761	7	540	0	84	2	0	0	0	0	0	0		-2.717016	1	1	121412	3	37	1	1	2	3	2.397433	1	0.890000	1.980000	0.905911	0.030000	0	1.000000	0.030000	0.255669	0.030000	0	1.000000e-02	1
HLA-DRB5	3127	broad.mit.edu	37	6	32487353	32487353	+	Missense_Mutation	SNP	T	T	C	rs114293611	by1000genomes	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:32487353T>C	ENST00000374975.3	-	3	508	c.446A>G	c.(445-447)aAt>aGt	p.N149S		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5	p.N149S(1)		10					ATAGAAACCATTCACAGAGCA	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000374975.3	1	0	hg19	CCDS4751.1	1029	0.47115384615384615	246	0.5	177	0.4889502762430939	256	0.44755244755244755	350	0.46174142480211083	.	0.054	-1.240602	0.01493	0.320799	0.252798	ENSG00000198502	ENST00000374975	T	0.02606	4.23	4.69	-9.39	0.00619	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.532611	0.22458	N	0.059800	T	0.00210	0.0006	N	0.01242	-0.935	0.80722	P	0.0	B;B	0.10296	0.0;0.003	B;B	0.13407	0.009;0.005	T	0.39643	-0.9604	9	0.12766	T	0.61	.	3.7772	0.08665	0.0982:0.418:0.1992:0.2846	.	76;149	Q29973;Q30154	.;DRB5_HUMAN	S	149	ENSP00000364114:N149S	ENSP00000364114:N149S	N	-	2	0	HLA-DRB5	32595331	0.000000	0.05858	0.004000	0.12327	0.270000	0.26580	-1.167000	0.03126	-1.562000	0.01682	-1.365000	0.01206	AAT		TCGA-US-A776-01A-13D-A33T-08	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	0	0	1	55	360	0	48	1	9.999569e-01	6	92	0	48	2		0	0	0	0	0	2	0	0.000244	28	258	9	42	68	0	0	0	0	0	0		-0.455761	0	0	115330	35055	67	1	1	2	3	2.405656	1	0.890000	1.980000	0.905551	0.360000	2.600000e-01	1.000000	0.350000	0.497604	0.360000	0	3.000000e-01	1
PRPH2	5961	broad.mit.edu	37	6	42689575	42689575	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42689575G>A	ENST00000230381.5	-	1	737	c.498C>T	c.(496-498)tgC>tgT	p.C166C		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)			18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		CGTTGTTGCCGCAGCATTTGA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000230381.5	0	1	hg19	CCDS4871.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	0	0	0	6	730	1	101		0	0	0	1	101	2		0	0	0	0	0	2	1	0.964620	6	727	0	100	2	0	0	0	0	0	0		-1.873738	0	1	121412	9	44	1	1	2	3	2.405656	1	0.890000	1.980000	0.905551	0.020000	0	1.000000	0.020000	0.245132	0.020000	0	1.000000e-02	1
TBCC	6903	broad.mit.edu	37	6	42713174	42713174	+	Missense_Mutation	SNP	T	T	C	rs147066602	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:42713174T>C	ENST00000372876.1	-	1	660	c.638A>G	c.(637-639)aAc>aGc	p.N213S	TBCC_ENST00000244625.2_Missense_Mutation_p.N213S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C			14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		GACCGTGCAGTTGCTCAGTTC	0.577000																								0							SO:0001583	missense			ENST00000372876.1	0	1	hg19	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.557018	0.27827	0.001362	0.0	ENSG00000124659	ENST00000372876;ENST00000244625	D;D	0.86865	-2.18;-2.18	5.21	2.75	0.32379	CARP motif (1);Tubulin binding cofactor C (1);C-CAP/cofactor C-like domain (1);	0.563969	0.19333	N	0.116844	T	0.72187	0.3429	M	0.65498	2.005	0.34424	D	0.697741	B	0.09022	0.002	B	0.17098	0.017	T	0.60362	-0.7278	10	0.35671	T	0.21	-9.0269	4.8275	0.13423	0.0:0.2054:0.1591:0.6355	.	213	Q15814	TBCC_HUMAN	S	213	ENSP00000361967:N213S;ENSP00000244625:N213S	ENSP00000244625:N213S	N	-	2	0	TBCC	42821152	0.996000	0.38824	0.273000	0.24645	0.604000	0.37047	2.556000	0.45862	0.365000	0.24400	0.383000	0.25322	AAC		TCGA-US-A776-01A-13D-A33T-08	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	0	0	0	5	206	0	24	1	7.545334e-01	4	106	0	24	2		0	0	0	0	0	2	1	0.937508	4	206	0	24	2	0	0	0	0	0	0		-7.207687	1	1	121412	14	42	1	1	2	3	2.405656	1	0.890000	1.980000	0.905551	0.070000	1.000000e-02	1.000000	0.070000	0.282474	0.070000	0	4.000000e-02	1
BACH2	60468	broad.mit.edu	37	6	90718567	90718567	+	Translation_Start_Site	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr6:90718567G>A	ENST00000257749.4	-	0	704				BACH2_ENST00000537989.1_De_novo_Start_OutOfFrame|BACH2_ENST00000343122.3_De_novo_Start_OutOfFrame	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2			45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)			CAGACATGCCGTTCACACCCT	0.478000																								0											ENST00000257749.4	0	1	hg19	CCDS5026.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	0	0	0	5	269	0	57		0	0	0	0	57	2		0	0	0	0	0	2	1	0.936899	5	267	0	57	2	0	0	0	0	0	0		-2.224117	0	1	0	0		1	0	1	1	1.645854	1	0.890000	1.980000	0.870390	0.030000	0	0.080000	0.040000	0.041296	0.030000	0	1.000000e-02	6.000000e-02
ZAN	7455	broad.mit.edu	37	7	100361458	100361458	+	RNA	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100361458C>T	ENST00000348028.3	+	0	4181				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)			139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)		GTGAATTCCCCGTCTTGTGAT	0.562000																								0											ENST00000348028.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.18960	2.22;2.2;2.18	4.33	3.44	0.39384	von Willebrand factor, type D domain (1);	0.194678	0.25654	N	0.029183	T	0.39064	0.1064	M	0.89214	3.015	0.32728	N	0.509395	D;D	0.69078	0.997;0.995	P;P	0.52386	0.697;0.5	T	0.59279	-0.7484	10	0.62326	D	0.03	.	8.4966	0.33132	0.0:0.887:0.0:0.113	.	1339;1339	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	1339	ENSP00000445943:P1339L;ENSP00000445091:P1339L;ENSP00000444427:P1339L	ENSP00000423579:P1339L	P	+	2	0	ZAN	100199394	0.018000	0.18449	0.001000	0.08648	0.020000	0.10135	2.304000	0.43655	1.113000	0.41760	0.555000	0.69702	CCG		TCGA-US-A776-01A-13D-A33T-08	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	0	55	778	0	124		0	0	0	0	124	2		0	0	0	0	0	2	1	1.000000	55	772	0	124	2	0	0	0	0	0	0		-2.364551	0	1	120954	2	33	1	1	2	3	2.476752	1	0.890000	1.980000	0.908352	0.180000	1.300000e-01	1.000000	0.170000	0.377439	0.180000	0	1.500000e-01	1
SERPINE1	5054	broad.mit.edu	37	7	100773787	100773787	+	Silent	SNP	G	G	A	rs6091	byFrequency	TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:100773787G>A	ENST00000223095.4	+	3	514	c.357G>A	c.(355-357)gcG>gcA	p.A119A	SERPINE1_ENST00000445463.2_Silent_p.A104A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1			20	Lung NSC(181;0.136)|all_lung(186;0.182)			Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCACAGACGCGATCTTCGTCC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000223095.4	1	1	hg19	CCDS5711.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	1	0	1	207	1199	0	221	0	9.858304e-01	0	40	0	221	2		0	0	0	0	0	2	1	1.000000	206	1189	0	219	2	0	0	0	0	0	0		-9.796089	1	1	121412	116	57	1	1	2	3	2.476752	1	0.890000	1.980000	0.908352	0.400000	3.400000e-01	1.000000	0.390000	0.542782	0.400000	0	3.700000e-01	1
OR2A2	442361	broad.mit.edu	37	7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2			22	Melanoma(164;0.0783)				AAGGAGGGCCGCATAAAGGCC	0.522000																								0							SO:0001583	missense			ENST00000408979.2	0	1	hg19	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880455	0.33255	.	.	ENSG00000221989	ENST00000408979	T	0.00333	8.07	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33327	U	0.005027	T	0.00524	0.0017	M	0.89904	3.07	0.09310	N	1	P	0.35821	0.523	B	0.40940	0.344	T	0.08027	-1.0742	10	0.72032	D	0.01	-4.2634	12.7847	0.57498	0.0:0.0:1.0:0.0	.	233	Q6IF42	OR2A2_HUMAN	H	233	ENSP00000386209:R233H	ENSP00000386209:R233H	R	+	2	0	OR2A2	143438306	0.000000	0.05858	0.365000	0.25901	0.643000	0.38383	0.412000	0.21131	1.938000	0.56188	0.511000	0.50034	CGC		TCGA-US-A776-01A-13D-A33T-08	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1	0	0	0	7	783	0	115		0	0	0	0	115	2		0	0	0	0	0	2	1	0.979925	7	775	0	114	2	0	0	0	0	0	0		-1.784834	0	1	121102	3	40	1	1	2	3	2.476752	1	0.890000	1.980000	0.908352	0.020000	0	1.000000	0.020000	0.260218	0.020000	0	1.000000e-02	1
UBE3C	9690	broad.mit.edu	37	7	156994419	156994419	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:156994419C>A	ENST00000348165.5	+	11	1696	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C			63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)		TTTTAGGCTTCTCTACAGTTT	0.318000																								0							SO:0001583	missense			ENST00000348165.5	1	1	hg19	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405940	0.62288	.	.	ENSG00000009335	ENST00000348165	T	0.63255	-0.03	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.72894	2.215	0.80722	D	1	P;P	0.52316	0.888;0.952	P;P	0.52758	0.622;0.708	T	0.72214	-0.4358	10	0.48119	T	0.1	-23.106	14.1289	0.65240	0.0:0.9285:0.0:0.0715	.	446;446	Q15386;Q15386-2	UBE3C_HUMAN;.	I	446	ENSP00000309198:L446I	ENSP00000309198:L446I	L	+	1	0	UBE3C	156687180	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.328000	0.65887	2.716000	0.92895	0.591000	0.81541	CTC		TCGA-US-A776-01A-13D-A33T-08	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	1	0	0	18	442	0	63	1	6.768833e-01	3	55	0	63	2		0	0	0	0	0	2	1	0.999980	18	435	0	63	2	0	0	0	0	0	0		-4.122296	1	1	0	0		1	2	4	6	2.467893	1	0.890000	1.980000	0.910671	0.110000	5.000000e-02	1.000000	0.100000	0.206148	0.110000	0	8.000000e-02	1.600000e-01
TAX1BP1	8887	broad.mit.edu	37	7	27868361	27868361	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:27868361C>T	ENST00000396319.2	+	17	2371	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	TAX1BP1_ENST00000265393.6_Silent_p.S719S|TAX1BP1_ENST00000433216.2_Silent_p.S562S|TAX1BP1_ENST00000543117.1_Silent_p.S719S|TAX1BP1_ENST00000409980.1_Silent_p.S785S	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	p.S761S(1)		31			GBM - Glioblastoma multiforme(3;0.0823)		CGATGTGCAGCGAGCAGTTCC	0.418000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000396319.2	0	1	hg19	CCDS5415.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	0	0	12	630	0	120	1	9.775939e-01	8	328	0	120	2		0	0	0	0	0	2	1	0.999035	12	620	0	120	2	0	0	0	0	0	0		-2.496385	0	1	121412	3	37	1	1	2	3	2.082311	0	0.890000	1.980000	0.891924	0.040000	1.000000e-02	1.000000	0.040000	0.073926	0.040000	0	2.000000e-02	6.000000e-02
RADIL	55698	broad.mit.edu	37	7	4876198	4876198	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:4876198C>T	ENST00000399583.3	-	3	761	c.574G>A	c.(574-576)Gcg>Acg	p.A192T	RADIL_ENST00000536091.1_Missense_Mutation_p.A192T|RADIL_ENST00000538469.1_5'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains			41		Ovarian(82;0.0175)			GTTCCCTTCGCGCGACTCCGC	0.657000																								0							SO:0001583	missense			ENST00000399583.3	1	1	hg19	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018145	0.54576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.24538	3.25;1.85	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	M	0.75447	2.3	0.43191	D	0.995025	D	0.52996	0.957	B	0.40534	0.332	T	0.20538	-1.0272	10	0.49607	T	0.09	-28.9768	12.2613	0.54652	0.0:0.8293:0.1707:0.0	.	192	Q96JH8	RADIL_HUMAN	T	192;166;192	ENSP00000382492:A192T;ENSP00000442533:A192T	ENSP00000320946:A166T	A	-	1	0	RADIL	4842724	0.997000	0.39634	0.951000	0.38953	0.111000	0.19643	3.783000	0.55409	2.123000	0.65237	0.462000	0.41574	GCG		TCGA-US-A776-01A-13D-A33T-08	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	1	0	1	83	126	0	36	0	0	1	0	0	36	2		0	0	0	0	0	2	1	1.000000	83	122	0	35	2	0	0	0	0	0	0		-20.000000	1	0	120546	24	42	1	1	2	3	2.082311	0	0.890000	1.980000	0.891924	0.900000	7.500000e-01	1.000000	1.000000	0.907926	0.900000	1	8.200000e-01	1
WBSCR17	64409	broad.mit.edu	37	7	70800577	70800577	+	Missense_Mutation	SNP	C	C	T	rs149779098		TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:70800577C>T	ENST00000333538.5	+	2	914	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	p.R94W(1)		100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)			TTATGGTGGGCGGGGTAAAGG	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000333538.5	1	0	hg19	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091057	0.76756	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.55234	0.53;1.85	4.89	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.31926	0.97	0.58432	D	0.999996	D	0.89917	1.0	P	0.60236	0.871	T	0.52320	-0.8591	10	0.36615	T	0.2	.	11.46	0.50204	0.3269:0.6731:0.0:0.0	.	94	Q6IS24	GLTL3_HUMAN	W	94;72	ENSP00000329654:R94W;ENSP00000392019:R72W	ENSP00000329654:R94W	R	+	1	2	WBSCR17	70438513	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.519000	0.53458	1.215000	0.43411	0.491000	0.48974	CGG		TCGA-US-A776-01A-13D-A33T-08	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	1	0	1	67	411	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	66	402	0	64	2	0	0	0	0	0	0		-0.736046	0	1	121406	946	50	1	1	2	3	2.476752	1	0.890000	1.980000	0.908352	0.390000	2.900000e-01	1.000000	0.370000	0.530320	0.390000	0	3.400000e-01	1
STEAP4	79689	broad.mit.edu	37	7	87912452	87912452	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr7:87912452T>A	ENST00000380079.4	-	3	589	c.488A>T	c.(487-489)aAg>aTg	p.K163M	AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.K163M|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4			15	Esophageal squamous(14;0.00802)				CACTCTTTGCTTGGCTTTGCT	0.358000																								0							SO:0001583	missense			ENST00000380079.4	1	1	hg19	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332548	0.60853	.	.	ENSG00000127954	ENST00000380079;ENST00000414498	T;T	0.19394	2.15;2.15	5.98	5.98	0.97165	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	H	0.97874	4.095	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74025	-0.3797	10	0.72032	D	0.01	-10.2817	10.7574	0.46245	0.0:0.0705:0.0:0.9295	.	163;163	C9JS50;Q687X5	.;STEA4_HUMAN	M	163	ENSP00000369419:K163M;ENSP00000394399:K163M	ENSP00000369419:K163M	K	-	2	0	STEAP4	87750388	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	6.292000	0.72725	2.289000	0.77006	0.482000	0.46254	AAG		TCGA-US-A776-01A-13D-A33T-08	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	1	0	1	203	180	0	52	0	9.989924e-01	1	12	0	52	2		0	0	0	0	0	2	1	1.000000	198	180	0	52	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.476752	1	0.890000	1.980000	0.908352	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TIGD5	84948	broad.mit.edu	37	8	144681830	144681830	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:144681830C>T	ENST00000504548.2	+	1	1757	c.1757C>T	c.(1756-1758)cCg>cTg	p.P586L	EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.P537L	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5			7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		ACCTCAGTGCCGACTGCCGGG	0.706000																								0							SO:0001583	missense			ENST00000504548.2	1	1	hg19	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391218	0.42410	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.51071	0.72;0.76	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000334	T	0.54240	0.1846	L	0.29908	0.895	0.49130	D	0.999754	D	0.89917	1.0	D	0.87578	0.998	T	0.43637	-0.9379	10	0.08837	T	0.75	.	17.2517	0.87044	0.0:1.0:0.0:0.0	.	537	Q53EQ6	TIGD5_HUMAN	L	586;537	ENSP00000421489:P586L;ENSP00000315906:P537L	ENSP00000315906:P537L	P	+	2	0	TIGD5	144752973	1.000000	0.71417	0.317000	0.25265	0.108000	0.19459	5.792000	0.69052	2.301000	0.77427	0.655000	0.94253	CCG		TCGA-US-A776-01A-13D-A33T-08	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	1	0	1	35	84	0	17	1	9.999995e-01	23	40	0	17	2		0	0	0	0	0	2	1	1.000000	34	84	0	17	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.390280	1	0.890000	1.980000	0.905551	0.810000	5.700000e-01	1.000000	0.770000	0.827195	0.810000	0	6.800000e-01	1
TRPA1	8989	broad.mit.edu	37	8	72981266	72981266	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:72981266C>T	ENST00000262209.4	-	3	643	c.436G>A	c.(436-438)Gtg>Atg	p.V146M		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)	ACCTTCATCACCTCATTATTC	0.542000																								0							SO:0001583	missense			ENST00000262209.4	1	1	hg19	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	11.16	1.555713	0.27827	.	.	ENSG00000104321	ENST00000262209	T	0.67865	-0.29	5.74	0.553	0.17235	Ankyrin repeat-containing domain (4);	0.500993	0.22628	N	0.057618	T	0.43144	0.1234	L	0.27053	0.805	0.09310	N	1	B	0.27380	0.177	B	0.18561	0.022	T	0.27872	-1.0061	10	0.54805	T	0.06	-6.309	1.9276	0.03320	0.1318:0.386:0.1307:0.3514	.	146	O75762	TRPA1_HUMAN	M	146	ENSP00000262209:V146M	ENSP00000262209:V146M	V	-	1	0	TRPA1	73143820	0.922000	0.31269	0.018000	0.16275	0.041000	0.13682	0.564000	0.23563	0.160000	0.19432	0.655000	0.94253	GTG		TCGA-US-A776-01A-13D-A33T-08	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	1	0	0	49	1207	0	190	0	3.819933e-02	0	8	0	190	2		0	0	0	0	0	2	1	1.000000	49	1186	0	190	2	0	0	0	0	0	0		-4.449552	1	1	0	0		1	1	2	3	2.390280	1	0.890000	1.980000	0.905551	0.100000	7.000000e-02	1.000000	0.100000	0.305914	0.100000	0	8.000000e-02	1
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	p.C549C(1)		39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)		CTCCTGGTCGGCAAAAGACAA	0.398000								Direct reversal of damage;Homologous recombination																1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000336148.5	0	1	hg19	CCDS6262.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	0	0	0	9	1200	0	168	0	5.429584e-03	0	13	0	168	2		0	0	0	0	0	2	1	0.994051	9	1193	0	168	2	0	0	0	0	0	0		-1.694353	0	1	121412	1	32	1	1	2	3	2.390280	1	0.890000	1.980000	0.905551	0.020000	0	1.000000	0.020000	0.243910	0.020000	0	1.000000e-02	1
SVEP1	79987	broad.mit.edu	37	9	113169444	113169444	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:113169444C>T	ENST00000401783.2	-	38	8772	c.8436G>A	c.(8434-8436)agG>agA	p.R2812R	SVEP1_ENST00000374469.1_Silent_p.R2789R|SVEP1_ENST00000297826.5_Silent_p.R738R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1			147					GGCATGTTCTCCTCTCAGTGC	0.502000																								0							SO:0001819	synonymous_variant			ENST00000401783.2	0	1	hg19	CCDS48004.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	9	718	0	122	0	5.405644e-03	0	8	0	122	2		0	0	0	0	0	2	1	0.994104	8	715	0	121	2	0	0	0	0	0	0		-2.319392	0	1	120966	1	36	1	1	2	3	2.041764	0	0.890000	1.980000	0.890487	0.020000	0	0.060000	0.020000	0.029705	0.020000	0	1.000000e-02	4.000000e-02
SURF4	6836	broad.mit.edu	37	9	136230524	136230524	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:136230524A>T	ENST00000371989.3	-	6	784	c.655T>A	c.(655-657)Ttc>Atc	p.F219I	SURF4_ENST00000545297.1_3'UTR|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4			8					AAGGCGTTGAAATATACGTTG	0.483000																								0							SO:0001583	missense			ENST00000371989.3	1	1	hg19	CCDS6968.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.979769	0.53827	.	.	ENSG00000148248	ENST00000371989;ENST00000541390	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.41710	1.295	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.008	T	0.47636	-0.9102	9	0.22706	T	0.39	-28.2418	14.2494	0.66009	1.0:0.0:0.0:0.0	.	210;219	B7Z7A8;O15260	.;SURF4_HUMAN	I	219;210	.	ENSP00000361057:F219I	F	-	1	0	SURF4	135220345	1.000000	0.71417	0.962000	0.40283	0.986000	0.74619	6.920000	0.75799	1.962000	0.57031	0.383000	0.25322	TTC		TCGA-US-A776-01A-13D-A33T-08	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1	1	0	1	116	134	0	51	1	1	157	239	0	51	2		0	0	0	0	0	2	1	1.000000	116	132	0	51	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.071561	0	0.890000	1.980000	0.890970	0.990000	9.000000e-01	1.000000	1.000000	0.990414	0.990000	1	9.700000e-01	1
CARD9	64170	broad.mit.edu	37	9	139262214	139262214	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:139262214G>A	ENST00000371732.5	-	8	1309	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	CARD9_ENST00000371734.3_Missense_Mutation_p.R382C|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9			15		Myeloproliferative disorder(178;0.0511)			ACCTGCTTGCGCAGCGCGTCC	0.692000																								0							SO:0001583	missense			ENST00000371732.5	1	1	hg19	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428970	0.43122	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.37584	1.19;1.19	3.85	3.85	0.44370	.	0.000000	0.64402	D	0.000007	T	0.56848	0.2013	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.60821	-0.7187	10	0.72032	D	0.01	-22.2626	10.565	0.45167	0.0:0.0:0.6812:0.3188	.	278;382;382	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	C	382	ENSP00000360799:R382C;ENSP00000360797:R382C	ENSP00000360797:R382C	R	-	1	0	CARD9	138382035	0.998000	0.40836	0.786000	0.31890	0.082000	0.17680	2.856000	0.48341	2.147000	0.66899	0.655000	0.94253	CGC		TCGA-US-A776-01A-13D-A33T-08	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	1	0	1	55	91	0	32	0	3.223073e-01	0	3	0	32	2		0	0	0	0	0	2	1	1.000000	55	91	0	32	2	0	0	0	0	0	0		-20.000000	1	1	120670	2	30	1	1	2	3	2.071561	0	0.890000	1.980000	0.890970	0.850000	6.700000e-01	1.000000	1.000000	0.856175	0.850000	1	7.600000e-01	9.500000e-01
UBAP1	51271	broad.mit.edu	37	9	34241398	34241398	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:34241398G>A	ENST00000297661.4	+	4	610	c.375G>A	c.(373-375)caG>caA	p.Q125Q	UBAP1_ENST00000359544.2_Silent_p.Q125Q|UBAP1_ENST00000545103.1_Silent_p.Q189Q|UBAP1_ENST00000536252.1_Silent_p.Q125Q|UBAP1_ENST00000379186.4_Silent_p.Q125Q|UBAP1_ENST00000540348.1_Silent_p.Q125Q|UBAP1_ENST00000543944.1_Silent_p.Q161Q	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1			13			LUSC - Lung squamous cell carcinoma(29;0.00272)		CCAGCTTGCAGCACAACAGCA	0.517000													NSCLC(109;1074 1634 14978 20375 39620)											0							SO:0001819	synonymous_variant			ENST00000297661.4	0	1	hg19	CCDS6550.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1	0	0	0	6	386	0	61	0	5.002787e-01	0	99	0	61	2		0	0	0	0	0	2	1	0.961766	5	375	0	61	2	0	0	0	0	0	0		-3.338925	1	1	0	0		1	0	0	0	1.969398	0	0.890000	1.980000	0.888007	0.030000	0	0.070000	0.040000	0.038884	0.030000	0	1.000000e-02	5.000000e-02
FBXO10	26267	broad.mit.edu	37	9	37518160	37518160	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chr9:37518160C>T	ENST00000432825.2	-	9	2524	c.2476G>A	c.(2476-2478)Ggc>Agc	p.G826S	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G351S	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10			34					AGCCCGCTGCCCCGGTTGCCA	0.567000																								0							SO:0001583	missense			ENST00000432825.2	1	1	hg19	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710231	0.89018	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.81821	-1.54;-1.54	5.37	5.37	0.77165	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.117372	0.56097	D	0.000022	D	0.82903	0.5138	L	0.27053	0.805	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.72075	0.976;0.965;0.965	T	0.79344	-0.1842	10	0.19590	T	0.45	-13.3359	17.9097	0.88930	0.0:1.0:0.0:0.0	.	705;351;826	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	S	826;351	ENSP00000403802:G826S;ENSP00000441307:G351S	ENSP00000403802:G826S	G	-	1	0	FBXO10	37508160	0.998000	0.40836	1.000000	0.80357	0.941000	0.58515	3.442000	0.52900	2.505000	0.84491	0.655000	0.94253	GGC		TCGA-US-A776-01A-13D-A33T-08	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0	0	0	12	281	0	55	0	6.002342e-03	0	3	0	55	2		0	0	0	0	0	2	1	0.999132	12	279	0	55	2	0	0	0	0	0	0		-3.125492	1	1	0	0		1	0	0	0	1.969398	0	0.890000	1.980000	0.888007	0.080000	4.000000e-02	0.150000	0.090000	0.097226	0.080000	0	6.000000e-02	1.200000e-01
TAF7L	54457	broad.mit.edu	37	X	100547881	100547881	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:100547881G>A	ENST00000372907.3	-	1	164	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa			29					TGCCTTCGTCGCCAGCAATGT	0.562000													Ovarian(104;431 1530 3210 15406 18594)											0							SO:0001819	synonymous_variant			ENST00000372907.3	1	1	hg19	CCDS35347.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2	1	0	1	192	428	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1.000000	191	423	0	125	2	0	0	0	0	0	0		-20.000000	1	1	121410	26	48	1	0	1	1			0.890000	1.980000	0.890000	0.340000	3.000000e-01	0.390000	0.350000	0.348567	0.340000	0	3.200000e-01	3.700000e-01
WWC3	55841	broad.mit.edu	37	X	10094325	10094325	+	Silent	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:10094325G>A	ENST00000380861.4	+	15	2476	c.2085G>A	c.(2083-2085)ccG>ccA	p.P695P	WWC3_ENST00000454666.1_Silent_p.P695P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3			52					CAGTGACTCCGCAGCTGCAGG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000380861.4	1	1	hg19	CCDS14136.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	1	0	1	42	332	0	36	0	1.334725e-02	0	2	0	36	2		0	0	0	0	0	2	1	1.000000	42	326	0	35	2	0	0	0	0	0	0		-16.022340	1	1	121410	4	35	1	0	1	1			0.890000	1.980000	0.890000	0.120000	8.000000e-02	0.160000	0.130000	0.128447	0.120000	0	1.000000e-01	1.500000e-01
ATP1B4	23439	broad.mit.edu	37	X	119509336	119509336	+	Silent	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:119509336C>T	ENST00000218008.3	+	5	729	c.672C>T	c.(670-672)cgC>cgT	p.R224R	ATP1B4_ENST00000361319.3_Silent_p.R220R|ATP1B4_ENST00000539306.1_Silent_p.R181R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide			33					AATTTAAGCGCTCCTTCCTAA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000218008.3	1	1	hg19	CCDS48158.1																																																																																				TCGA-US-A776-01A-13D-A33T-08	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	1	0	1	150	261	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	149	260	0	55	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.890000	1.980000	0.890000	0.400000	3.500000e-01	0.460000	0.410000	0.410681	0.400000	0	3.700000e-01	4.400000e-01
IL3RA	3563	broad.mit.edu	37	X	1471384	1471384	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:1471384G>A	ENST00000331035.4	+	6	950	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	IL3RA_ENST00000381469.2_Missense_Mutation_p.V123I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)			3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)		Sargramostim(DB00020)	TAAGTTTGTCGTCTTTTCACA	0.582000																								0							SO:0001583	missense			ENST00000331035.4	1	1	hg19	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.067	-1.210561	0.01555	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;D;D	0.83419	-1.72;-1.72;-1.72	1.75	-3.5	0.04710	Interleukin-6 receptor alpha chain, binding (1);	3.183580	0.01689	U	0.026593	T	0.68805	0.3041	N	0.22421	0.69	0.09310	N	1	P;P	0.48998	0.899;0.918	B;B	0.39706	0.145;0.307	T	0.64045	-0.6499	10	0.36615	T	0.2	-17.4739	3.4193	0.07388	0.1745:0.0:0.3307:0.4948	.	122;201	P26951-2;P26951	.;IL3RA_HUMAN	I	201;123;123	ENSP00000327890:V201I;ENSP00000414867:V123I;ENSP00000370878:V123I	ENSP00000327890:V201I	V	+	1	0	IL3RA	1431384	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-1.457000	0.02374	-2.153000	0.00793	-1.271000	0.01417	GTC		TCGA-US-A776-01A-13D-A33T-08	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3	1	0	0	22	282	0	55	0	3.936481e-01	1	17	0	55	2		0	0	0	0	0	2	1	0.999999	21	278	0	54	2	0	0	0	0	0	0		-7.430881	1	1	121378	1	34	1	0	1	1			0.890000	1.980000	0.890000	0.070000	4.000000e-02	0.120000	0.080000	0.084411	0.070000	0	6.000000e-02	1.000000e-01
MAGEA8	4107	broad.mit.edu	37	X	149013926	149013926	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:149013926G>A	ENST00000542674.1	+	3	1401	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	MAGEA8_ENST00000535454.1_Missense_Mutation_p.V294I|MAGEA8_ENST00000286482.1_Missense_Mutation_p.V294I	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8			20	Acute lymphoblastic leukemia(192;6.56e-05)				GGAGCATGTGGTCAGGGTCAA	0.572000																								0							SO:0001583	missense			ENST00000542674.1	1	1	hg19	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	3.209	-0.162021	0.06502	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.01629	4.72;4.72;4.72	1.0	-2.01	0.07410	.	1.351960	0.04740	N	0.422606	T	0.01254	0.0041	N	0.12831	0.26	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	10	0.62326	D	0.03	.	1.746	0.02962	0.257:0.0:0.4215:0.3215	.	294	P43361	MAGA8_HUMAN	I	294	ENSP00000438293:V294I;ENSP00000443776:V294I;ENSP00000286482:V294I	ENSP00000286482:V294I	V	+	1	0	MAGEA8	148774584	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.569000	0.05902	-0.838000	0.04218	-1.043000	0.02367	GTC		TCGA-US-A776-01A-13D-A33T-08	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	1	0	1	82	415	0	97		0	0	0	0	97	2		0	0	0	0	0	2	1	1.000000	81	413	0	97	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.890000	1.980000	0.890000	0.180000	1.400000e-01	0.220000	0.190000	0.186838	0.180000	0	1.600000e-01	2.100000e-01
KLHL34	257240	broad.mit.edu	37	X	21675080	21675080	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A776-01A-13D-A33T-08	TCGA-US-A776-11A-11D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a20f3f2f-a3c6-492e-8a99-0bcece7e8ead	6c696450-ecc4-4112-b926-71d21d67ab55	g.chrX:21675080C>T	ENST00000379499.2	-	1	1368	c.827G>A	c.(826-828)cGg>cAg	p.R276Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34			26					CTGGGGGCTCCGGATGCTGGT	0.706000																								0							SO:0001583	missense			ENST00000379499.2	0	1	hg19	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453847	0.63290	.	.	ENSG00000185915	ENST00000379499	T	0.78126	-1.15	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	M	0.71206	2.165	0.58432	D	0.999999	D	0.63046	0.992	P	0.51266	0.664	D	0.86073	0.1539	10	0.87932	D	0	.	17.0104	0.86405	0.0:1.0:0.0:0.0	.	276	Q8N239	KLH34_HUMAN	Q	276	ENSP00000368813:R276Q	ENSP00000368813:R276Q	R	-	2	0	KLHL34	21585001	1.000000	0.71417	0.977000	0.42913	0.136000	0.21042	7.323000	0.79105	2.194000	0.70268	0.422000	0.28245	CGG		TCGA-US-A776-01A-13D-A33T-08	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	1	0	0	13	115	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	0.999564	13	112	0	17	2	0	0	0	0	0	0		-3.018608	1	1	0	0		1	0	1	1			0.890000	1.980000	0.890000	0.110000	6.000000e-02	0.180000	0.110000	0.120879	0.110000	0	8.000000e-02	1.500000e-01