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
PNLIP	5406	broad.mit.edu	37	10	118318720	118318721	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			-	A	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:118318720_118318721insA	ENST00000369221.2	+	10	1013_1014	c.985_986insA	c.(985-987)gatfs	p.D329fs		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase			43				Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TCACTATGCTGATAGATATCCT	0.401000																								0							SO:0001589	frameshift_variant			ENST00000369221.2	0	1	hg19	CCDS7594.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	1	0	0	104	383	0	66	0	1	0	160	0	66	2			0	0	0	0		1	1.000000	105	378	0	65	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	2.037845	0	0.630000	1.930000	0.628831	0.670000	5.600000e-01	0.790000	0.680000	0.678694	0.670000	0	0.610000	0.740000
INPP5F	22876	broad.mit.edu	37	10	121551520	121551521	+	Frame_Shift_Ins	INS	-	-	GAGG			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:121551520_121551521insGAGG	ENST00000361976.2	+	5	750_751	c.584_585insGAGG	c.(583-588)gagaggfs	p.-196fs	INPP5F_ENST00000369081.1_Frame_Shift_Ins_p.-100fs|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.-196fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F			42		Lung NSC(174;0.109)|all_lung(145;0.142)			AGCACTGGGGAGAGGGACGGTC	0.500000																								0							SO:0001589	frameshift_variant			ENST00000361976.2	0	1	hg19	CCDS7616.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	1	0	0	105	566	0	117	0	3.663019e-01	0	8	0	117	2			0	0	0	0		1	1.000000	110	562	0	115	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	2.037845	0	0.630000	1.930000	0.628831	0.490000	4.000000e-01	0.580000	0.500000	0.498000	0.490000	0	0.440000	0.540000
RPRD2	23248	broad.mit.edu	37	1	150443776	150443776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:150443776delT	ENST00000369068.4	+	11	2356	c.2352delT	c.(2350-2352)aatfs	p.N784fs	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Frame_Shift_Del_p.N758fs|RPRD2_ENST00000539519.1_Frame_Shift_Del_p.N758fs	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2			37					AGCTCTCCAATTCTGTATCTA	0.507000																								0							SO:0001589	frameshift_variant			ENST00000369068.4	1	1	hg19	CCDS44216.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	1	0	0	89	199	0	32	1	1	18	44	0	32	2			0	0	0	0		1	1.000000	91	199	0	33	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.653221	1	0.630000	1.930000	0.713833	0.990000	9.900000e-01	1.000000	1.000000	0.999826	0.990000	1	0.990000	1.000000
PRSS1	5644	broad.mit.edu	37	7	142458419	142458421	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			TGA	-	TGA	TGA		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:142458419_142458421delTGA	ENST00000311737.7	+	2	60_62	c.54_56delTGA	c.(52-57)tttgat>ttt	p.D22del	PRSS1_ENST00000486171.1_In_Frame_Del_p.D22del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)			38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	Aprotinin(DB06692)	CTGCCCCCTTTGATGATGATGAC	0.527000																								0		GRCh37	CM035652	PRSS1	M		SO:0001651	inframe_deletion			ENST00000311737.7	1	0	hg19	CCDS5872.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	1	0	0	122	1075	0	176	0	1	0	540	0	176	2	1	9.999971e-01	30	123	0	87	2	1	0.046923	257	857	20	181	139	0	0	0	0	0	0		-20.000000	1	0	0	0		1	1	2	3	2.083494	0	0.630000	1.930000	0.632316	0.320000	2.600000e-01	0.390000	0.320000	0.334147	0.320000	0	0.290000	0.360000
KDM6A	7403	broad.mit.edu	37	X	44969494	44969503	+	Splice_Site	DEL	AGTAAGTCAA	AGTAAGTCAA	-			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			AGTAAGTCAA	-	AGTAAGTCAA	AGTAAGTCAA		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:44969494_44969503delAGTAAGTCAA	ENST00000377967.4	+	28	4217	c.4176delAGTAAGTCAA	c.(4174-4176)tta>tt	p.L1392fs	KDM6A_ENST00000536777.1_Splice_Site_p.L1347fs|KDM6A_ENST00000382899.4_Splice_Site_p.L1399fs|KDM6A_ENST00000543216.1_Splice_Site_p.L1313fs|KDM6A_ENST00000479423.1_3'UTR	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	p.0?(6)		170					AATTTACATTAGTAAGTCAAATCAACATGT	0.376000			D, N, F, S		renal, oesophageal SCC, MM								Colon(129;1273 1667 15230 27352 52914)		Rec	yes		X	Xp11.2	7403	lysine (K)-specific demethylase 6A, UTX		E, L	6	Whole gene deletion(6)						SO:0001630	splice_region_variant			ENST00000377967.4	1	1	hg19	CCDS14265.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	0	0	0	36	200	0	43	0	9.958940e-01	0	50	0	43	2	1	1	85	329	0	288	2	1	0.999218	61	225	1	44	20	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.630000	1.930000	0.630000	0.480000	3.400000e-01	0.630000	0.480000	0.492298	0.480000	0	0.410000	0.560000
LZTS2	84445	broad.mit.edu	37	10	102765276	102765276	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:102765276C>T	ENST00000370220.1	+	3	4193	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	LZTS2_ENST00000370223.3_Missense_Mutation_p.A377V					leucine zipper, putative tumor suppressor 2			22					GAGGACTGTGCGGCCCAGGCA	0.657000													Esophageal Squamous(8;38 437 13604 19902 37640)											0							SO:0001583	missense			ENST00000370220.1	0	1	hg19	CCDS7507.1	.	.	.	.	.	.	.	.	.	.	C	12.450000	1.941222	0.342830	2.27E-4	0.0	ENSG00000107816	ENST00000370223;ENST00000315797;ENST00000370220	T;T	0.48836	0.8;0.8	5.090000	1.640000	0.238740	.	0.379079	0.28284	N	0.015912	T	0.33644	0.0870	L	0.31420	0.93	0.093100	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.29119	-1.0022	10	0.48119	T	0.1	4.0816	10.985500	0.475200	0.0:0.7431:0.0:0.2569	.	377	Q9BRK4	LZTS2_HUMAN	V	377	ENSP00000359243:A377V;ENSP00000359240:A377V	ENSP00000314437:A377V	A	+	2	0	LZTS2	102755266	0	0.058580	0	0.037020	3.640000e-01	0.296430	0.846000	0.276820	0.519000	0.284060	0.561000	0.740990	GCG		TCGA-HV-AA8X-01A-11D-A397-08	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	0	0	0	5	224	0	49	0	8.626110e-01	0	164	0	49	2		0	0	0	0	0	2	1	0.936784	5	223	0	49	2		0	0	0	0	0	2	-3.474056	1	1	120942	4	31	1	0	1	1	2.037845	0	0.630000	1.930000	0.628831	0.070000	2.000000e-02	0.150000	0.070000	0.081989	0.070000	0	0.040000	0.110000
MYO3A	53904	broad.mit.edu	37	10	26432452	26432452	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:26432452C>A	ENST00000265944.5	+	21	2504	c.2338C>A	c.(2338-2340)Ctg>Atg	p.L780M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA			146					AGATATGTTTCTGCAAAAGCC	0.383000																								0							SO:0001583	missense			ENST00000265944.5	1	1	hg19	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	21.500000	4.159247	0.782260	.	.	ENSG00000095777	ENST00000265944	D	0.87179	-2.22	6.020000	6.020000	0.975740	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	M	0.67700	2.07	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	D	0.91867	0.5504	10	0.72032	D	0.01	.	11.775000	0.519810	0.0:0.8651:0.0:0.1349	.	780	Q8NEV4	MYO3A_HUMAN	M	780	ENSP00000265944:L780M	ENSP00000265944:L780M	L	+	1	2	MYO3A	26472458	1	0.714170	1	0.803570	9.890000e-01	0.773840	2.744000	0.474500	2.857000	0.981240	0.650000	0.862430	CTG		TCGA-HV-AA8X-01A-11D-A397-08	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	1	0	1	90	238	0	63	0	3.062954e-01	0	4	0	63	2		0	0	0	0	0	2	1	1.000000	89	236	0	63	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.041878	0	0.630000	1.930000	0.630000	0.860000	7.100000e-01	1.000000	1.000000	0.871853	0.860000	1	0.790000	0.950000
RBM17	84991	broad.mit.edu	37	10	6157416	6157416	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr10:6157416C>T	ENST00000446108.1	+	12	1747	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Splice_Site_p.A368V	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17			19					TGCCTTTCAGCGGTTGTTGAC	0.353000																								0							SO:0001630	splice_region_variant			ENST00000446108.1	1	0	hg19	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	C	25.600000	4.653982	0.880560	.	.	ENSG00000134453	ENST00000379888;ENST00000446108	.	.	.	4.930000	4.930000	0.648220	RNA recognition motif domain, eukaryote (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	D	0.87617	0.6222	H	0.95645	3.7	0.807220	D	1.000000	D	0.89917	1.0	D	0.87578	0.998	D	0.91544	0.5252	8	.	.	.	.	18.519000	0.909440	0.0:1.0:0.0:0.0	.	368	Q96I25	SPF45_HUMAN	V	368	.	.	A	+	2	0	RBM17	6197422	1	0.714170	1	0.803570	8.450000e-01	0.480190	7.091000	0.769230	2.424000	0.821940	0.655000	0.942530	GCG		TCGA-HV-AA8X-01A-11D-A397-08	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	1	0	0	11	289	0	83	1	9.938181e-01	14	217	0	83	2		0	0	0	0	0	2	1	0.998324	11	286	0	82	2		0	0	0	0	0	2	-3.264751	1	1	0	0		1	0	1	1	1.380522	1	0.630000	1.930000	0.459854	0.070000	3.000000e-02	0.140000	0.080000	0.086063	0.070000	0	0.050000	0.110000
ROBO3	64221	broad.mit.edu	37	11	124749808	124749808	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:124749808G>A	ENST00000397801.1	+	26	4114	c.3922G>A	c.(3922-3924)Gtg>Atg	p.V1308M	ROBO3_ENST00000543966.1_Missense_Mutation_p.V71M|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1286M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)			35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)			GGTCCAGGCCGTGCCCCTGGC	0.692000																								0							SO:0001583	missense			ENST00000397801.1	0	1	hg19	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	5.514000	0.279841	0.104580	.	.	ENSG00000154134	ENST00000397801;ENST00000538940;ENST00000543966	T;T;T	0.64438	-0.1;-0.09;0.88	5.280000	-0.160000	0.133750	.	1.155830	0.06713	N	0.773491	T	0.45276	0.1334	N	0.22421	0.69	0.093100	N	1.000000	B	0.10296	0.003	B	0.06405	0.002	T	0.23119	-1.0197	10	0.29301	T	0.29	.	7.307100	0.264530	0.2549:0.0:0.6225:0.1226	.	1308	Q96MS0	ROBO3_HUMAN	M	1308;1286;71	ENSP00000380903:V1308M;ENSP00000441797:V1286M;ENSP00000438799:V71M	ENSP00000380903:V1308M	V	+	1	0	ROBO3	124255018	1.000000e-03	0.127200	2.000000e-03	0.105220	2.100000e-02	0.103590	0.938000	0.289650	-0.348000	0.082860	-1.004000	0.024950	GTG		TCGA-HV-AA8X-01A-11D-A397-08	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	1	0	1	16	39	0	11	1	9.658442e-01	3	14	0	11	2		0	0	0	0	0	2	1	0.999968	16	37	0	11	2		0	0	0	0	0	2	-20.000000	1	1	120614	5	34	1	0	0	0	2.039546	0	0.630000	1.930000	0.630000	0.920000	5.800000e-01	1.000000	1.000000	0.887922	0.920000	1	0.740000	1.000000
LRP5	4041	broad.mit.edu	37	11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5			63					GCCCCCTCCGTCCCCCTGCAC	0.582000																								0							SO:0001583	missense			ENST00000294304.7	0	1	hg19	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	T	16.070000	3.019969	0.545760	.	.	ENSG00000162337	ENST00000294304	D	0.96830	-4.14	4.530000	4.530000	0.556030	.	0.000000	0.46145	U	0.000317	D	0.97791	0.9275	M	0.78637	2.42	0.807220	D	1.000000	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.98611	1.0663	10	0.87932	D	0	.	14.092200	0.649980	0.0:0.0:0.0:1.0	.	1609;1609	Q9UES7;O75197	.;LRP5_HUMAN	P	1609	ENSP00000294304:S1609P	ENSP00000294304:S1609P	S	+	1	0	LRP5	67973091	1	0.714170	9.320000e-01	0.372860	2.100000e-02	0.103590	7.395000	0.798760	1.919000	0.555810	0.454000	0.307480	TCC		TCGA-HV-AA8X-01A-11D-A397-08	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	0	0	0	4	190	0	40	0	9.771287e-01	0	356	0	40	2		0	0	0	0	0	2	1	0.885006	4	185	0	39	2		0	0	0	0	0	2	-2.425109	0	1	0	0		1	0	0	0	2.039546	0	0.630000	1.930000	0.630000	0.070000	1.000000e-02	0.160000	0.060000	0.080685	0.070000	0	0.040000	0.110000
GDPD4	220032	broad.mit.edu	37	11	76982196	76982196	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr11:76982196C>T	ENST00000376217.2	-	6	629	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Missense_Mutation_p.V127M			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4			20					AAACATGCCACGTAGAAGGCC	0.483000																								0							SO:0001583	missense			ENST00000376217.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.897000	-0.228315	0.060220	0.0	1.16E-4	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.16073	2.37;2.43	4.550000	-2.000000	0.074330	.	0.670270	0.15204	N	0.274867	T	0.07728	0.0194	L	0.29908	0.895	0.093100	N	1.000000	P	0.38167	0.621	B	0.26969	0.075	T	0.21109	-1.0255	10	0.39692	T	0.17	-0.5584	5.377600	0.161740	0.5872:0.1974:0.0:0.2154	.	127	Q6W3E5-2	.	M	127	ENSP00000365390:V127M;ENSP00000320815:V127M	ENSP00000320815:V127M	V	-	1	0	GDPD4	76659844	0	0.058580	0	0.037020	2.000000e-03	0.026280	-0.182000	0.097260	-0.554000	0.061500	-0.500000	0.045770	GTG		TCGA-HV-AA8X-01A-11D-A397-08	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	1	0	1	43	112	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1.000000	43	111	0	26	2		0	0	0	0	0	2	-20.000000	1	1	121412	3	34	1	0	0	0	2.039546	0	0.630000	1.930000	0.630000	0.870000	6.600000e-01	1.000000	1.000000	0.876294	0.870000	1	0.760000	1.000000
KSR2	283455	broad.mit.edu	37	12	117977587	117977587	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:117977587G>A	ENST00000339824.5	-	10	2351	c.1624C>T	c.(1624-1626)Ccg>Tcg	p.P542S	KSR2_ENST00000302438.5_Missense_Mutation_p.P239S|KSR2_ENST00000425217.1_Missense_Mutation_p.P513S|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2			67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				GGAGAAGGCGGCGTGGCACTA	0.647000																								0							SO:0001583	missense			ENST00000339824.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	22.200000	4.260144	0.802460	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86297	-1.27;-1.26;-2.1	5.040000	5.040000	0.676660	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.29908	0.895	0.807220	D	1.000000	D	0.59357	0.985	P	0.53102	0.718	T	0.80214	-0.1475	10	0.02654	T	1	.	18.569100	0.911280	0.0:0.0:1.0:0.0	.	542	Q6VAB6	KSR2_HUMAN	S	513;542;239;214	ENSP00000389715:P513S;ENSP00000339952:P542S;ENSP00000305466:P239S	ENSP00000305466:P239S	P	-	1	0	KSR2	116461970	1	0.714170	1	0.803570	9.210000e-01	0.553400	9.569000	0.981700	2.601000	0.879370	0.655000	0.942530	CCG		TCGA-HV-AA8X-01A-11D-A397-08	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	1	0	1	64	85	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	1.000000	60	85	0	46	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	2	2	1.819576	1	0.630000	1.930000	0.630000	0.990000	9.900000e-01	1.000000	1.000000	0.999955	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.400000	4.409094	0.833400	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.807220	D	1.000000	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.371900	0.904090	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1	0.714170	1	0.803570	9.980000e-01	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-HV-AA8X-01A-11D-A397-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	50	156	0	37	1	9.976111e-01	17	13	0	37	2	1	1	134	392	0	431	2	1	1.000000	50	154	0	37	2	1	1	2547	5486	11	8006	21	-20.000000	1	1	121404	2	44	1	2	2	4	2.580085	1	0.630000	1.930000	0.707417	0.990000	7.600000e-01	1.000000	1.000000	0.956221	0.990000	1	0.870000	1.000000
TUBA1B	10376	broad.mit.edu	37	12	49523505	49523505	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:49523505G>A	ENST00000336023.5	-	2	98	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000547712.1_RNA|RP11-386G11.10_ENST00000551496.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b			12					ATGCACTCACGCTGCGGGAAG	0.468000																								0							SO:0001630	splice_region_variant			ENST00000336023.5	1	0	hg19	CCDS31792.1	.	.	.	.	.	.	.	.	.	.	g	16.250000	3.071607	0.556460	.	.	ENSG00000123416	ENST00000336023;ENST00000551373;ENST00000429203;ENST00000550367	T;T	0.71698	-0.59;-0.59	4.850000	4.850000	0.628380	Tubulin/FtsZ, GTPase domain (2);	0.000000	0.47455	U	0.000228	D	0.86543	0.5958	M	0.88570	2.965	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.89528	0.3783	10	0.87932	D	0	.	16.730900	0.854340	0.0:0.0:1.0:0.0	.	2	P68363	TBA1B_HUMAN	C	2	ENSP00000336799:R2C;ENSP00000449325:R2C	ENSP00000336799:R2C	R	-	1	0	TUBA1B	47809772	1	0.714170	1	0.803570	9.370000e-01	0.578000	9.776000	0.990010	2.235000	0.733130	0.655000	0.942530	CGT		TCGA-HV-AA8X-01A-11D-A397-08	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409005.1	1	0	1	65	86	0	42	1	1	207	122	0	42	2		0	0	0	0	0	2	1	1.000000	60	84	0	42	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	2	2	1.819576	1	0.630000	1.930000	0.630000	0.990000	9.900000e-01	1.000000	1.000000	0.999961	0.990000	1	0.990000	1.000000
NOP2	4839	broad.mit.edu	37	12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:6672578G>A	ENST00000322166.5	-	8	912	c.791C>T	c.(790-792)tCt>tTt	p.S264F	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000541778.1_Missense_Mutation_p.S260F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein			19					CAGGTATTCAGAACGAGACCG	0.542000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000322166.5	0	1	hg19	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	G	16.030000	3.005824	0.542540	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944	T;T;T;T;T;T;T	0.48201	2.4;2.42;2.43;2.4;2.4;2.4;0.82	5.190000	5.190000	0.717260	.	1.209700	0.05601	N	0.576322	T	0.66247	0.2770	M	0.84082	2.675	0.205630	N	0.999886	P	0.41131	0.739	P	0.49276	0.605	T	0.56463	-0.7975	10	0.66056	D	0.02	-1.1433	11.969500	0.530550	0.0:0.0:0.7038:0.2962	.	260	P46087-2	.	F	264;297;260;260;264;260;140	ENSP00000444437:S264F;ENSP00000371858:S297F;ENSP00000439422:S260F;ENSP00000382392:S260F;ENSP00000313272:S264F;ENSP00000443150:S260F;ENSP00000440754:S140F	ENSP00000313272:S264F	S	-	2	0	NOP2	6542839	1.600000e-02	0.182210	3.500000e-02	0.180760	9.930000e-01	0.825480	1.893000	0.397580	2.436000	0.825000	0.561000	0.740990	TCT		TCGA-HV-AA8X-01A-11D-A397-08	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	1	0	1	24	33	0	16	1	9.999992e-01	36	7	0	16	2		0	0	0	0	0	2	1	1.000000	24	33	0	16	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	2	2	1.824452	1	0.630000	1.930000	0.630000	0.990000	9.600000e-01	1.000000	1.000000	0.997286	0.990000	1	0.990000	1.000000
OSBPL8	114882	broad.mit.edu	37	12	76779953	76779953	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr12:76779953C>A	ENST00000261183.3	-	14	2007	c.1528G>T	c.(1528-1530)Gaa>Taa	p.E510*	OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E468*|OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E468*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8			28					AATACCTGTTCAGCAATATAA	0.318000																								0							SO:0001587	stop_gained			ENST00000261183.3	0	1	hg19	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	C	43.000000	9.950176	0.993030	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	.	.	.	5.650000	5.650000	0.869990	.	0.094278	0.64402	D	0.000001	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0275	19.724000	0.961540	0.0:1.0:0.0:0.0	.	.	.	.	X	468;510;495;468;510;510;485	.	ENSP00000261183:E510X	E	-	1	0	OSBPL8	75304084	1	0.714170	1	0.803570	9.960000e-01	0.888480	6.092000	0.714140	2.654000	0.901740	0.557000	0.710580	GAA		TCGA-HV-AA8X-01A-11D-A397-08	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	1	0	1	59	84	0	32	1	8.526269e-01	4	3	0	32	2	0	0	0	1	0	0	2	1	1.000000	59	84	0	32	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	2	2	1.819576	1	0.630000	1.930000	0.630000	0.990000	9.900000e-01	1.000000	1.000000	0.999784	0.990000	1	0.990000	1.000000
OR4K17	390436	broad.mit.edu	37	14	20586444	20586444	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:20586444C>T	ENST00000315543.4	+	1	879	c.879C>T	c.(877-879)ttC>ttT	p.F293F		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17			21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)		TTTGGCCCTTCGGCAACCACT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000315543.4	1	1	hg19	CCDS32030.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1	1	0	1	72	104	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1.000000	72	104	0	37	2		0	0	0	0	0	2	-20.000000	1	1	121406	18	44	1	1	2	3	2.070656	0	0.630000	1.930000	0.632316	0.990000	9.900000e-01	1.000000	1.000000	0.999880	0.990000	1	0.990000	1.000000
NPAS3	64067	broad.mit.edu	37	14	34270091	34270091	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:34270091G>A	ENST00000356141.4	+	12	2578	c.2578G>A	c.(2578-2580)Ggc>Agc	p.G860S	NPAS3_ENST00000357798.5_Missense_Mutation_p.G847S|NPAS3_ENST00000548645.1_Missense_Mutation_p.G830S|NPAS3_ENST00000551492.1_Missense_Mutation_p.G865S|NPAS3_ENST00000346562.2_Missense_Mutation_p.G828S			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3			40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)		TAACAGCCCCGGCTTTGGCCT	0.652000																								0							SO:0001583	missense			ENST00000356141.4	0	1	hg19	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	G	11.820000	1.751605	0.310460	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.11169	3.07;2.9;2.96;2.96;2.93;2.8	5.020000	5.020000	0.671250	.	0.054609	0.64402	D	0.000001	T	0.08133	0.0203	L	0.27053	0.805	0.807220	D	1.000000	B;B;B;B	0.17667	0.023;0.013;0.023;0.023	B;B;B;B	0.15052	0.012;0.005;0.012;0.012	T	0.19192	-1.0313	10	0.37606	T	0.19	.	9.699800	0.401800	0.1303:0.0:0.8697:0.0	.	830;860;828;847	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	S	834;865;828;830;860;847	ENSP00000448373:G834S;ENSP00000450392:G865S;ENSP00000319610:G828S;ENSP00000448916:G830S;ENSP00000348460:G860S;ENSP00000350446:G847S	ENSP00000319610:G828S	G	+	1	0	NPAS3	33339842	1	0.714170	9.980000e-01	0.565050	9.630000e-01	0.636630	4.058000	0.574630	2.310000	0.778750	0.484000	0.476210	GGC		TCGA-HV-AA8X-01A-11D-A397-08	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1	1	0	1	13	24	0	12	0	0	0	1	0	12	2		0	0	0	0	0	2	1	0.999836	13	24	0	12	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.055636	0	0.630000	1.930000	0.631162	0.990000	6.700000e-01	1.000000	1.000000	0.956200	0.990000	1	0.880000	1.000000
GPHN	10243	broad.mit.edu	37	14	67626189	67626189	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr14:67626189G>T	ENST00000315266.5	+	18	2916	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.V645F|GPHN_ENST00000478722.1_Missense_Mutation_p.V632F|GPHN_ENST00000305960.9_Missense_Mutation_p.V568F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin			12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)			TTTTGGCAGGGTTTTTATGAA	0.333000			T	MLL	AL										Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0							SO:0001583	missense			ENST00000315266.5	0	1	hg19	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.600000	4.845302	0.911970	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.660000	5.660000	0.874060	Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.93012	0.7776	H	0.98005	4.125	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.996;0.999;0.996	D	0.95232	0.8343	10	0.87932	D	0	-9.3676	18.507500	0.909020	0.0:0.0:1.0:0.0	.	568;645;599;632	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	F	599;632;645;568;124	ENSP00000312771:V599F;ENSP00000417901:V632F;ENSP00000438404:V645F;ENSP00000303019:V568F;ENSP00000452009:V124F	ENSP00000303019:V568F	V	+	1	0	GPHN	66695942	1	0.714170	1	0.803570	9.960000e-01	0.888480	9.326000	0.963890	2.669000	0.908350	0.591000	0.815410	GTT		TCGA-HV-AA8X-01A-11D-A397-08	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	0	0	0	5	464	0	105	1	4.720076e-02	2	24	0	105	2		0	0	0	0	0	2	1	0.937501	5	463	0	105	2		0	0	0	0	0	2	-2.877532	1	1	0	0		1	0	0	0	2.047579	0	0.630000	1.930000	0.630000	0.030000	0	0.080000	0.040000	0.039941	0.030000	0	0.010000	0.060000
C15orf41	84529	broad.mit.edu	37	15	36989551	36989551	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:36989551G>A	ENST00000566621.1	+	8	754	c.504G>A	c.(502-504)ctG>ctA	p.L168L	C15orf41_ENST00000437989.2_Silent_p.L168L|C15orf41_ENST00000338183.4_Silent_p.L70L|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Silent_p.L70L|C15orf41_ENST00000569302.1_Silent_p.L168L|C15orf41_ENST00000567389.1_Silent_p.L70L	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41			12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)			ATGAGGTCCTGCTGAGAGACT	0.423000																								0							SO:0001819	synonymous_variant			ENST00000566621.1	0	1	hg19	CCDS45215.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1	0	0	0	19	403	1	58	0	6.137167e-02	2	17	1	58	3		0	0	0	0	0	2	0	0.353964	19	397	1	58	22		0	0	0	0	0	2	-4.106372	1	0	0	0		1	0	0	0	2.018792	0	0.630000	1.930000	0.625279	0.140000	8.000000e-02	0.210000	0.140000	0.147651	0.140000	0	0.100000	0.180000
RPAP1	26015	broad.mit.edu	37	15	41813192	41813192	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:41813192C>T	ENST00000304330.4	-	22	3308	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1			45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)			CTCGGGCTGGCGAGCAATGAG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000304330.4	1	1	hg19	CCDS10079.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	1	0	1	61	182	0	46	1	9.996594e-01	16	23	0	46	2		0	0	0	0	0	2	1	1.000000	60	176	0	46	2		0	0	0	0	0	2	-4.774033	1	1	0	0		1	0	0	0	2.018792	0	0.630000	1.930000	0.625279	0.780000	6.200000e-01	0.950000	0.790000	0.790947	0.780000	0	0.690000	0.870000
ACAN	176	broad.mit.edu	37	15	89382241	89382241	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:89382241G>A	ENST00000561243.1	+	2	418	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ACAN_ENST00000559004.1_Missense_Mutation_p.E140K|ACAN_ENST00000558207.1_Missense_Mutation_p.E140K|ACAN_ENST00000352105.7_Missense_Mutation_p.E140K|ACAN_ENST00000439576.2_Missense_Mutation_p.E140K			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		GCATGGCATCGAGGACAGCGA	0.612000																								0							SO:0001583	missense			ENST00000561243.1	1	1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	29.100000	4.980547	0.929820	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02656	4.21;4.21	5.600000	5.600000	0.851300	.	0.000000	0.33005	N	0.005399	T	0.20820	0.0501	M	0.88570	2.965	0.514820	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.931;0.949;0.995	T	0.00379	-1.1777	10	0.72032	D	0.01	-10.703	18.973300	0.927240	0.0:0.0:1.0:0.0	.	140;140;140	E7ENV9;E7EX88;Q6PID9	.;.;.	K	140	ENSP00000387356:E140K;ENSP00000341615:E140K	ENSP00000268134:E140K	E	+	1	0	ACAN	87183245	1	0.714170	9.860000e-01	0.454190	9.920000e-01	0.810270	9.715000	0.987480	2.806000	0.965610	0.655000	0.942530	GAG		TCGA-HV-AA8X-01A-11D-A397-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	1	146	282	0	93	0	1.173906e-01	0	2	0	93	2		0	0	0	0	0	2	1	1.000000	144	281	0	92	2		0	0	0	0	0	2	-14.451170	1	1	121108	8	40	1	0	0	0	2.018792	0	0.630000	1.930000	0.625279	0.990000	9.200000e-01	1.000000	1.000000	0.993905	0.990000	1	0.990000	1.000000
ST8SIA2	8128	broad.mit.edu	37	15	93007522	93007522	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr15:93007522G>A	ENST00000268164.3	+	6	1272	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ST8SIA2_ENST00000539113.1_Silent_p.P324P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2			20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		AGGCCAGCCCGCATACCATGC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000268164.3	1	1	hg19	CCDS10372.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	1	0	0	22	386	0	74	0	3.259868e-03	0	2	0	74	2		0	0	0	0	0	2	1	0.999999	22	385	0	74	2		0	0	0	0	0	2	-2.594330	1	1	121412	12	44	1	0	0	0	2.018792	0	0.630000	1.930000	0.625279	0.160000	1.000000e-01	0.250000	0.170000	0.175586	0.160000	0	0.130000	0.210000
SLC5A11	115584	broad.mit.edu	37	16	24883505	24883505	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:24883505G>A	ENST00000347898.3	+	5	959	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	SLC5A11_ENST00000545376.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A113T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A78T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A49T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A49T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A113T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11			49					GCTGATGTTGGCCTGGATCTT	0.517000																								0							SO:0001583	missense			ENST00000347898.3	1	1	hg19	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	g	22.000000	4.226797	0.795760	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.25;-2.3	4.890000	-1.420000	0.089130	.	0.240762	0.41001	D	0.000971	D	0.93396	0.7894	M	0.91140	3.18	0.373180	D	0.909431	P;P;B;D	0.64830	0.783;0.877;0.444;0.994	P;P;B;D	0.69479	0.542;0.628;0.36;0.964	D	0.93660	0.6981	10	0.87932	D	0	.	13.913300	0.638810	0.0:0.0:0.3469:0.6531	.	78;113;113;49	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	T	113;49;113;78;49	ENSP00000289932:A113T;ENSP00000389606:A49T;ENSP00000416782:A113T;ENSP00000441384:A78T;ENSP00000441018:A49T	ENSP00000289932:A113T	A	+	1	0	SLC5A11	24791006	1	0.714170	9.760000e-01	0.426960	9.940000e-01	0.842990	0.404000	0.209990	-0.547000	0.062070	0.443000	0.290940	GCC		TCGA-HV-AA8X-01A-11D-A397-08	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	1	0	0	9	166	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.994300	9	164	0	32	2		0	0	0	0	0	2	-3.950166	1	1	0	0		1	0	1	1	2.036749	0	0.630000	1.930000	0.628831	0.160000	8.000000e-02	0.290000	0.160000	0.178191	0.160000	0	0.110000	0.230000
TPPP3	51673	broad.mit.edu	37	16	67424140	67424140	+	Silent	SNP	G	G	A	rs137924465	byFrequency	TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:67424140G>A	ENST00000564104.1	-	3	1309	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TPPP3_ENST00000562206.1_Silent_p.D156D|TPPP3_ENST00000290942.5_Silent_p.D156D|TPPP3_ENST00000393957.2_Silent_p.D156D|RNU1-123P_ENST00000458950.1_RNA			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3			7		Ovarian(137;0.0563)			AGCCACTGTCGTCCAGGATGT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000564104.1	1	1	hg19	CCDS10835.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	0	0	1	90	224	1	68	1	1	906	984	1	68	69		0	0	0	0	0	2	1	1.000000	90	223	1	68	16		0	0	0	0	0	2	-20.000000	1	1	121412	10	42	1	0	1	1	2.036749	0	0.630000	1.930000	0.628831	0.900000	7.500000e-01	1.000000	1.000000	0.903976	0.900000	1	0.820000	0.990000
C16orf74	404550	broad.mit.edu	37	16	85743833	85743833	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr16:85743833C>T	ENST00000284245.4	-	3	292	c.109G>A	c.(109-111)Gac>Aac	p.D37N	C16orf74_ENST00000602583.1_Missense_Mutation_p.D25N|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602719.1_Missense_Mutation_p.D37N|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602766.1_5'UTR	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74								ATGATGATGTCGGGCACGTCC	0.662000																								0							SO:0001583	missense			ENST00000284245.4	1	1	hg19	CCDS45540.1	.	.	.	.	.	.	.	.	.	.	C	5.934000	0.356442	0.112390	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.850000	-0.840000	0.107550	.	0.448478	0.20948	N	0.082807	T	0.12220	0.0297	.	.	.	0.242420	N	0.995352	B	0.12630	0.006	B	0.06405	0.002	T	0.34725	-0.9817	8	0.02654	T	1	-27.196	8.054400	0.305960	0.0:0.3031:0.0:0.6969	.	37	Q96GX8	CP074_HUMAN	N	37	.	ENSP00000284245:D37N	D	-	1	0	C16orf74	84301334	9.800000e-01	0.346000	9.960000e-01	0.522420	9.860000e-01	0.746190	-0.165000	0.099680	-0.129000	0.116200	0.561000	0.740990	GAC		TCGA-HV-AA8X-01A-11D-A397-08	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	1	0	1	20	34	0	15	1	9.997900e-01	6	24	0	15	2		0	0	0	0	0	2	1	0.999999	20	34	0	15	2		0	0	0	0	0	2	-20.000000	1	0	120106	2	29	1	0	1	1	2.036749	0	0.630000	1.930000	0.628831	0.990000	7.800000e-01	1.000000	1.000000	0.979696	0.990000	1	0.960000	1.000000
SLFN13	146857	broad.mit.edu	37	17	33771812	33771812	+	Silent	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:33771812G>T	ENST00000285013.6	-	3	1163	c.888C>A	c.(886-888)acC>acA	p.T296T	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Silent_p.T296T|SLFN13_ENST00000533791.1_Silent_p.T296T|SLFN13_ENST00000542635.1_Silent_p.T296T	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13			31					CTACGATTTTGGTGCTGTACT	0.413000																								0							SO:0001819	synonymous_variant			ENST00000285013.6	1	1	hg19	CCDS32620.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	1	0	1	144	689	0	99	1	9.997143e-01	3	55	0	99	2		0	0	0	0	0	2	1	1.000000	142	686	0	98	2		0	0	0	0	0	2	-2.890562	1	1	121412	1	33	1	1	3	4	3.365530	1	0.630000	1.930000	0.773006	0.890000	7.600000e-01	1.000000	1.000000	0.895798	0.890000	1	0.820000	0.970000
PLEKHH3	79990	broad.mit.edu	37	17	40825305	40825305	+	Missense_Mutation	SNP	C	C	T	rs139853357		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:40825305C>T	ENST00000591022.1	-	6	1045	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.G220R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.G220R	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3			13		Breast(137;0.00116)			TCTGGGTCCCCGCAACTTTCC	0.597000																								0							SO:0001583	missense			ENST00000591022.1	1	1	hg19	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	C	13.270000	2.186768	0.386090	4.54E-4	0.0	ENSG00000068137	ENST00000293349;ENST00000412503	T;T	0.45276	0.9;0.9	5.550000	2.390000	0.294390	.	0.526619	0.17507	N	0.171775	T	0.19485	0.0468	N	0.14661	0.345	0.093100	N	1.000000	B;B	0.30741	0.143;0.293	B;B	0.15484	0.013;0.01	T	0.13202	-1.0518	10	0.22706	T	0.39	-25.3623	6.860400	0.240640	0.0:0.4169:0.428:0.155	.	220;220	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	R	220	ENSP00000293349:G220R;ENSP00000411885:G220R	ENSP00000293349:G220R	G	-	1	0	PLEKHH3	38078831	0	0.058580	2.020000e-01	0.234940	9.540000e-01	0.612520	0.178000	0.168200	0.415000	0.258170	0.655000	0.942530	GGG		TCGA-HV-AA8X-01A-11D-A397-08	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	1	0	1	96	139	0	77	1	9.999966e-01	26	5	0	77	2		0	0	0	0	0	2	1	1.000000	96	138	0	77	2		0	0	0	0	0	2	-3.142702	1	1	121410	10	41	1	0	1	1	1.405324	1	0.630000	1.930000	0.459854	0.870000	7.400000e-01	0.990000	0.880000	0.878064	0.870000	1	0.800000	0.940000
CACNA1G	8913	broad.mit.edu	37	17	48650072	48650072	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:48650072T>C	ENST00000359106.5	+	6	904	c.904T>C	c.(904-906)Tat>Cat	p.Y302H	CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y302H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y302H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y302H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y302H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y302H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGTCTGGACTATGAGGCCTA	0.637000																								0							SO:0001583	missense			ENST00000359106.5	1	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	10.560000	1.385505	0.250310	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96967	-4.04;-4.04;-4.19;-3.98;-4.03;-4.04;-4.06;-4.14;-4.1;-4.12;-4.13;-4.0;-4.01;-4.08;-4.03;-3.98;-4.06;-4.02;-4.0;-4.07;-4.04;-4.01;-4.06;-4.0;-4.06;-4.06	5.360000	4.290000	0.510400	Ion transport (1);	0.408184	0.18169	N	0.149521	D	0.96163	0.8749	L	0.39245	1.2	0.345680	D	0.713136	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.89917	0.999;0.015;0.99;0.998;0.994;0.999;0.999;0.014;0.999;0.015;0.014;0.012;0.015;0.014;1.0;0.007;0.999;0.028;0.015;0.015;0.999;0.015;0.014;0.016;0.002;0.998	D;B;D;D;D;D;D;B;D;B;B;B;B;B;D;B;D;B;B;B;D;B;B;B;B;D	0.87578	0.997;0.035;0.942;0.986;0.942;0.972;0.998;0.035;0.994;0.035;0.016;0.021;0.035;0.035;0.998;0.035;0.992;0.011;0.035;0.035;0.996;0.035;0.027;0.052;0.003;0.985	D	0.96169	0.9121	10	0.42905	T	0.14	.	8.063800	0.306480	0.0:0.1531:0.0:0.8469	.	302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302;302	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	302	ENSP00000353990:Y302H;ENSP00000339302:Y302H;ENSP00000392390:Y302H;ENSP00000347078:Y302H;ENSP00000409759:Y302H;ENSP00000425522:Y302H;ENSP00000426261:Y302H;ENSP00000425451:Y302H;ENSP00000422407:Y302H;ENSP00000426814:Y302H;ENSP00000427238:Y302H;ENSP00000423112:Y302H;ENSP00000420918:Y302H;ENSP00000426172:Y302H;ENSP00000423045:Y302H;ENSP00000427173:Y302H;ENSP00000426098:Y302H;ENSP00000425698:Y302H;ENSP00000426232:Y302H;ENSP00000423317:Y302H;ENSP00000350979:Y302H;ENSP00000352011:Y302H;ENSP00000414388:Y302H;ENSP00000423155:Y302H;ENSP00000422268:Y302H;ENSP00000421518:Y302H	ENSP00000339302:Y302H	Y	+	1	0	CACNA1G	46005071	1	0.714170	1	0.803570	5.230000e-01	0.344690	2.449000	0.449350	2.055000	0.611980	0.414000	0.278200	TAT		TCGA-HV-AA8X-01A-11D-A397-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	1	37	78	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	1.000000	37	78	0	19	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.050067	0	0.630000	1.930000	0.630000	0.990000	7.600000e-01	1.000000	1.000000	0.957725	0.990000	1	0.880000	1.000000
TP53	7157	broad.mit.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr17:7577505T>A	ENST00000269305.4	-	7	965	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000445888.2_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TGACCTGGAGTCTTCCAGTGT	0.587000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	41	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.780000	2.636906	0.470490	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.520000	4.520000	0.553950	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99557	0.9841	M	0.82630	2.6	0.807220	D	1.000000	P;P;P;P;P	0.52842	0.482;0.483;0.537;0.815;0.956	P;B;P;P;P	0.57244	0.692;0.401;0.63;0.795;0.816	D	0.98404	1.0569	10	0.62326	D	0.03	-22.926	7.641600	0.282960	0.1888:0.0:0.0:0.8112	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	V	259;259;259;259;259;259;248;127	ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V	ENSP00000269305:D259V	D	-	2	0	TP53	7518230	1	0.714170	1	0.803570	3.290000e-01	0.285390	2.616000	0.463760	2.036000	0.601810	0.379000	0.241790	GAC		TCGA-HV-AA8X-01A-11D-A397-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	42	64	0	30	1	1	37	15	0	30	2	1	1	281	308	0	669	2	1	1.000000	41	64	0	30	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.422606	1	0.630000	1.930000	0.459854	0.830000	6.500000e-01	0.980000	0.850000	0.840095	0.830000	0	0.740000	0.930000
OSBPL1A	114876	broad.mit.edu	37	18	21894274	21894274	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21894274C>T	ENST00000319481.3	-	12	1114	c.908G>A	c.(907-909)tGc>tAc	p.C303Y	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				GTCATCAAAGCATTTAATAAA	0.363000																								0							SO:0001583	missense			ENST00000319481.3	1	1	hg19	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	22.700000	4.328865	0.816900	.	.	ENSG00000141447	ENST00000319481	T	0.43688	0.94	5.700000	5.700000	0.887880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.65260	0.2674	M	0.68593	2.085	0.807220	D	1.000000	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.986	T	0.62676	-0.6804	10	0.45353	T	0.12	-16.9032	19.816100	0.965680	0.0:1.0:0.0:0.0	.	303;303	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	Y	303	ENSP00000320291:C303Y	ENSP00000320291:C303Y	C	-	2	0	OSBPL1A	20148272	1	0.714170	1	0.803570	9.600000e-01	0.627990	6.709000	0.746650	2.680000	0.912920	0.585000	0.799380	TGC		TCGA-HV-AA8X-01A-11D-A397-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	1	65	305	0	55	0	5.495974e-01	0	10	0	55	2		0	0	0	0	0	2	1	1.000000	64	304	0	55	2		0	0	0	0	0	2	-20.000000	1	0	0	0		1	0	0	0	2.029361	0	0.630000	1.930000	0.627654	0.550000	4.300000e-01	0.680000	0.550000	0.558792	0.550000	0	0.490000	0.620000
OSBPL1A	114876	broad.mit.edu	37	18	21897296	21897296	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21897296C>T	ENST00000319481.3	-	10	1007	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				CTTACTGTTTCCTATACCATG	0.313000																								0							SO:0001819	synonymous_variant			ENST00000319481.3	1	1	hg19	CCDS11884.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	1	189	251	0	61	0	8.751383e-01	0	7	0	61	2		0	0	0	0	0	2	1	1.000000	188	249	0	61	2		0	0	0	0	0	2	-20.000000	1	1	121408	1	34	1	0	0	0	2.029361	0	0.630000	1.930000	0.627654	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
OSBPL1A	114876	broad.mit.edu	37	18	21898597	21898597	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:21898597C>A	ENST00000319481.3	-	9	906	c.700G>T	c.(700-702)Gca>Tca	p.A234S		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A			36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)				CGTTTCAATGCTTTGTAGATG	0.279000																								0							SO:0001583	missense			ENST00000319481.3	1	1	hg19	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	4.909000	0.169002	0.093390	.	.	ENSG00000141447	ENST00000319481	T	0.44881	0.91	5.560000	1.490000	0.228780	Ankyrin repeat-containing domain (2);	0.491348	0.21599	N	0.071965	T	0.22551	0.0544	N	0.25647	0.755	0.584320	D	0.999998	B;B	0.12630	0.006;0.006	B;B	0.15870	0.014;0.014	T	0.07731	-1.0757	10	0.08599	T	0.76	-5.6116	6.442700	0.218590	0.1097:0.4683:0.3476:0.0743	.	234;234	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	S	234	ENSP00000320291:A234S	ENSP00000320291:A234S	A	-	1	0	OSBPL1A	20152595	6.760000e-01	0.275670	8.510000e-01	0.335270	8.730000e-01	0.501930	0.364000	0.203250	0.284000	0.223050	0.650000	0.862430	GCA		TCGA-HV-AA8X-01A-11D-A397-08	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	1	0	1	89	343	0	58	0	3.626491e-01	0	6	0	58	2		0	0	0	0	0	2	1	1.000000	89	341	0	58	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.029361	0	0.630000	1.930000	0.627654	0.640000	5.300000e-01	0.770000	0.650000	0.653284	0.640000	0	0.580000	0.710000
SMAD4	4089	broad.mit.edu	37	18	48575209	48575209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:48575209C>T	ENST00000342988.3	+	3	941	c.403C>T	c.(403-405)Cga>Tga	p.R135*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.R135*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.R135*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.R135*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.R135*(4)|p.?(4)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TCACTACGAACGAGTTGTATC	0.328000																								44	Whole gene deletion(36)|Substitution - Nonsense(4)|Unknown(4)	GRCh37	CM064283	SMAD4	M		SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42.000000	9.183954	0.990920	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.480000	4.570000	0.564350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.592500	0.683780	0.1465:0.8535:0.0:0.0	.	.	.	.	X	135	.	ENSP00000341551:R135X	R	+	1	2	SMAD4	46829207	9.990000e-01	0.422020	1	0.803570	9.960000e-01	0.888480	0.732000	0.260720	2.540000	0.856660	0.585000	0.799380	CGA		TCGA-HV-AA8X-01A-11D-A397-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	9	120	0	39	1	4.705243e-01	3	18	0	39	2	1	9.999691e-01	20	292	0	342	2	1	0.994360	9	118	0	39	2		0	0	0	0	0	2	-13.213000	1	1	0	0		1	0	1	1	1.390667	1	0.630000	1.930000	0.459854	0.150000	7.000000e-02	0.270000	0.150000	0.164494	0.150000	0	0.100000	0.210000
ALPK2	115701	broad.mit.edu	37	18	56204451	56204451	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr18:56204451T>C	ENST00000361673.3	-	5	3181	c.2968A>G	c.(2968-2970)Aca>Gca	p.T990A	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2			84					GTTAATGTTGTTGGCTTCTCC	0.488000																								0							SO:0001583	missense			ENST00000361673.3	0	1	hg19	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	9.351000	1.065556	0.200670	.	.	ENSG00000198796	ENST00000361673	T	0.52295	0.67	5.410000	-6.330000	0.019880	.	1.692290	0.03097	N	0.160562	T	0.28234	0.0697	L	0.31926	0.97	0.093100	N	1.000000	B;B	0.22909	0.077;0.046	B;B	0.19391	0.025;0.011	T	0.07986	-1.0744	10	0.22109	T	0.4	0.3807	0.858100	0.011870	0.2972:0.1997:0.0999:0.4031	.	990;990	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	A	990	ENSP00000354991:T990A	ENSP00000354991:T990A	T	-	1	0	ALPK2	54355431	0	0.058580	0	0.037020	3.000000e-03	0.035180	-0.379000	0.074370	-1.405000	0.020480	-2.480000	0.001980	ACA		TCGA-HV-AA8X-01A-11D-A397-08	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	0	0	4	229	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	0.885993	4	224	0	69	2		0	0	0	0	0	2	-3.396322	1	1	0	0		1	0	1	1	1.390667	1	0.630000	1.930000	0.459854	0.030000	0	0.090000	0.040000	0.046016	0.030000	0	0.020000	0.070000
IL4I1	259307	broad.mit.edu	37	19	50399114	50399114	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:50399114G>A	ENST00000391826.2	-	3	352	c.210C>T	c.(208-210)gcC>gcT	p.A70A	IL4I1_ENST00000341114.3_Silent_p.A92A|IL4I1_ENST00000595948.1_Silent_p.A92A	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1			16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		Flavin adenine dinucleotide(DB03147)	CCACCAGCCCGGCCACACCAG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000391826.2	1	1	hg19	CCDS12787.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1	1	0	0	32	660	0	146	0	2.095457e-02	0	5	0	146	2		0	0	0	0	0	2	1	1.000000	32	655	0	146	2		0	0	0	0	0	2	-4.599387	1	1	121410	1	36	1	1	2	3	2.058099	0	0.630000	1.930000	0.631162	0.140000	9.000000e-02	0.210000	0.140000	0.151300	0.140000	0	0.110000	0.180000
SIGLEC7	27036	broad.mit.edu	37	19	51647834	51647834	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:51647834T>C	ENST00000317643.6	+	2	674	c.605T>C	c.(604-606)cTc>cCc	p.L202P	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7			29		all_neural(266;0.0199)			TCCTCAGTGCTCACCCTCATC	0.657000																								0							SO:0001583	missense			ENST00000317643.6	0	1	hg19	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	14.000000	2.404089	0.426130	.	.	ENSG00000168995	ENST00000317643	T	0.09630	2.96	2.900000	2.900000	0.337430	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35555	N	0.003139	T	0.34600	0.0903	M	0.90483	3.12	0.436620	D	0.996083	D	0.89917	1.0	D	0.97110	1.0	T	0.16335	-1.0406	10	0.66056	D	0.02	.	7.642400	0.283000	0.0:0.0:0.0:1.0	.	202	Q9Y286	SIGL7_HUMAN	P	202	ENSP00000323328:L202P	ENSP00000323328:L202P	L	+	2	0	SIGLEC7	56339646	5.800000e-02	0.207350	6.470000e-01	0.295070	1.700000e-02	0.094130	3.019000	0.496350	1.360000	0.459600	0.432000	0.286060	CTC		TCGA-HV-AA8X-01A-11D-A397-08	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	0	0	0	6	362	0	59	0	4.079551e-04	0	2	0	59	2		0	0	0	0	0	2	1	0.962842	5	355	0	58	2		0	0	0	0	0	2	-6.404988	1	1	0	0		1	1	2	3	2.058099	0	0.630000	1.930000	0.631162	0.050000	1.000000e-02	0.110000	0.060000	0.060179	0.050000	0	0.030000	0.080000
TSEN34	79042	broad.mit.edu	37	19	54696142	54696142	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:54696142C>T	ENST00000396383.1	+	4	974	c.663C>T	c.(661-663)taC>taT	p.Y221Y	MBOAT7_ENST00000245615.1_5'Flank|TSEN34_ENST00000302937.4_Silent_p.Y221Y|MBOAT7_ENST00000338624.6_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|MBOAT7_ENST00000391754.1_5'Flank|TSEN34_ENST00000429671.2_Silent_p.Y221Y|TSEN34_ENST00000396388.2_Silent_p.Y221Y|MBOAT7_ENST00000431666.2_5'Flank|MBOAT7_ENST00000474910.1_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit			10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)				AGCTGCGCTACAGTATCTACA	0.642000													Esophageal Squamous(37;841 964 4869 42824)											0							SO:0001819	synonymous_variant			ENST00000396383.1	1	1	hg19	CCDS42609.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	1	0	1	51	245	0	57	1	1	32	140	0	57	2		0	0	0	0	0	2	1	1.000000	51	240	0	54	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.069353	0	0.630000	1.930000	0.632316	0.540000	4.200000e-01	0.720000	0.550000	0.560702	0.540000	0	0.480000	0.630000
LILRB1	10859	broad.mit.edu	37	19	55144146	55144146	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55144146A>C	ENST00000396331.1	+	7	1250	c.893A>C	c.(892-894)tAc>tCc	p.Y298S	LILRB1_ENST00000324602.7_Missense_Mutation_p.Y298S|LILRB1_ENST00000418536.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396315.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000427581.2_Missense_Mutation_p.Y334S|LILRB1_ENST00000396321.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000434867.2_Missense_Mutation_p.Y298S|LILRB1_ENST00000396327.3_Missense_Mutation_p.Y298S|LILRB1_ENST00000396317.1_Missense_Mutation_p.Y298S|LILRB1_ENST00000396332.4_Missense_Mutation_p.Y298S|LILRB1_ENST00000448689.1_Missense_Mutation_p.Y298S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			74					TACAGATGCTACGGTGCACAC	0.672000										HNSCC(37;0.09)														0							SO:0001583	missense			ENST00000396331.1	0	1	hg19	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	5.091000	0.202429	0.096520	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76;2.76	2.030000	0.938000	0.195000	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.252811	0.20873	N	0.084132	T	0.16557	0.0398	M	0.74467	2.265	0.093100	N	0.999994	B;B;P;B;B	0.37233	0.34;0.004;0.588;0.01;0.005	B;B;P;B;B	0.45506	0.261;0.031;0.483;0.031;0.052	T	0.08848	-1.0702	10	0.48119	T	0.1	.	5.333400	0.159450	0.7111:0.2889:0.0:0.0	.	298;298;298;298;298	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	298;298;298;298;298;298;298;298;334;298;298	ENSP00000379614:Y298S;ENSP00000391514:Y298S;ENSP00000409968:Y298S;ENSP00000379622:Y298S;ENSP00000379618:Y298S;ENSP00000315997:Y298S;ENSP00000405243:Y298S;ENSP00000379623:Y298S;ENSP00000395004:Y334S;ENSP00000379610:Y298S;ENSP00000379608:Y298S	ENSP00000315997:Y298S	Y	+	2	0	LILRB1	59835958	0	0.058580	2.170000e-01	0.237590	9.000000e-03	0.068530	-0.248000	0.088540	0.015000	0.149710	-1.341000	0.012490	TAC		TCGA-HV-AA8X-01A-11D-A397-08	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4	0	0	0	5	276	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	0.931307	4	266	0	57	2		0	0	0	0	0	2	-2.586779	1	1	121412	35	46	1	0	0	0	2.046403	0	0.630000	1.930000	0.630000	0.050000	1.000000e-02	0.130000	0.060000	0.067131	0.050000	0	0.030000	0.090000
KIR3DL2	3812	broad.mit.edu	37	19	55378105	55378105	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:55378105G>A	ENST00000326321.3	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL2_ENST00000270442.5_Silent_p.T412T|KIR3DL1_ENST00000402254.2_Silent_p.T429T|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2			23					GCGTGTACACGGAACTTCCAA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000326321.3	1	1	hg19	CCDS12906.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1	1	0	0	288	599	0	186		0	0	0	0	186	2		0	0	0	0	0	2	1	1.000000	285	593	0	185	2		0	0	0	0	0	2	-19.883200	1	1	0	0		1	0	0	0	2.046403	0	0.630000	1.930000	0.630000	0.990000	9.200000e-01	1.000000	1.000000	0.991880	0.990000	1	0.970000	1.000000
ZNF266	10781	broad.mit.edu	37	19	9526402	9526402	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr19:9526402C>T	ENST00000592904.1	-	4	2208	c.132G>A	c.(130-132)gtG>gtA	p.V44V	ZNF266_ENST00000361451.2_Silent_p.V44V|ZNF266_ENST00000588933.1_Silent_p.V44V|ZNF266_ENST00000588221.1_Silent_p.V44V|ZNF266_ENST00000361151.1_Silent_p.V44V|ZNF266_ENST00000592292.1_Silent_p.V44V|ZNF266_ENST00000590306.1_Silent_p.V44V			Q14584	ZN266_HUMAN	zinc finger protein 266			28					TTTTAAGTTGCACTTTCCATT	0.418000																								0							SO:0001819	synonymous_variant			ENST00000592904.1	1	1	hg19	CCDS12213.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1	0	0	0	9	232	0	46	1	6.444420e-02	2	8	0	46	2		0	0	0	0	0	2	1	0.994143	8	230	0	45	2		0	0	0	0	0	2	-10.564710	1	1	121412	2	31	1	0	0	0	2.022215	0	0.630000	1.930000	0.627654	0.120000	5.000000e-02	0.210000	0.120000	0.129499	0.120000	0	0.080000	0.170000
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A			24	Breast(184;0.197)				AGAGGTTGTGCCGGTCCACCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000366835.3	0	1	hg19	CCDS31042.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	0	0	0	6	470	0	77	0	9.782602e-01	1	549	0	77	2		0	0	0	0	0	2	1	0.964027	6	465	0	77	2		0	0	0	0	0	2	-1.924587	0	1	0	0		1	1	2	3	2.645449	1	0.630000	1.930000	0.715220	0.050000	0	1.000000	0.060000	0.095629	0.050000	0	0.020000	0.090000
C1orf101	257044	broad.mit.edu	37	1	244724041	244724041	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:244724041G>A	ENST00000366534.4	+	10	1155	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	C1orf101_ENST00000366531.3_Silent_p.K216K|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.K367K	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	p.K367N(1)		36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		TTCTTCTTAAGTTTGCCAGAT	0.408000																								1	Substitution - Missense(1)						SO:0001819	synonymous_variant			ENST00000366534.4	1	1	hg19	CCDS44340.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	0	0	0	11	386	0	51	0	2.864080e-03	0	3	0	51	2		0	0	0	0	0	2	1	0.998316	11	383	0	50	2		0	0	0	0	0	2	-10.870750	1	1	0	0		1	1	2	3	2.645449	1	0.630000	1.930000	0.715220	0.110000	5.000000e-02	1.000000	0.120000	0.157187	0.110000	0	0.080000	0.170000
RAD54L	8438	broad.mit.edu	37	1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:46726266C>T	ENST00000371975.4	+	6	1134	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R154W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	p.R154W(1)		25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)			TAAGGTTTTGCGGCCTCATCA	0.537000								Direct reversal of damage;Homologous recombination																1	Substitution - Missense(1)						SO:0001583	missense			ENST00000371975.4	0	1	hg19	CCDS532.1	.	.	.	.	.	.	.	.	.	.	C	18.390000	3.614125	0.666720	4.54E-4	0.0	ENSG00000085999	ENST00000442598;ENST00000371975	D;D	0.95205	-3.64;-3.64	5.750000	3.800000	0.437150	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.98446	4.235	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	-18.6346	13.734800	0.628110	0.4359:0.5641:0.0:0.0	.	154	Q92698	RAD54_HUMAN	W	154	ENSP00000396113:R154W;ENSP00000361043:R154W	ENSP00000361043:R154W	R	+	1	2	RAD54L	46498853	9.990000e-01	0.422020	9.960000e-01	0.522420	9.980000e-01	0.957120	1.055000	0.304670	0.698000	0.317390	0.655000	0.942530	CGG		TCGA-HV-AA8X-01A-11D-A397-08	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1	0	0	0	5	346	0	63	0	2.560576e-02	0	14	0	63	2		0	0	0	0	0	2	1	0.934116	5	338	0	61	2		0	0	0	0	0	2	-1.705155	0	1	121412	2	39	1	0	0	0	2.046825	0	0.630000	1.930000	0.630000	0.040000	0	0.100000	0.040000	0.053756	0.040000	0	0.020000	0.080000
PER3	8863	broad.mit.edu	37	1	7887612	7887612	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:7887612C>T	ENST00000361923.2	+	17	2774	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P875S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3			39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			ATCGTTTTTGCCATGTCCATT	0.537000																								0							SO:0001583	missense			ENST00000361923.2	0	1	hg19	CCDS89.1	.	.	.	.	.	.	.	.	.	.	C	13.430000	2.234770	0.394980	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.13196	2.61;2.65	4.320000	4.320000	0.515710	.	0.845655	0.10846	N	0.627733	T	0.12178	0.0296	L	0.41573	1.285	0.093100	N	0.999997	P;P;P;P	0.46784	0.816;0.816;0.884;0.816	B;B;B;B	0.39152	0.152;0.152;0.292;0.152	T	0.13176	-1.0519	10	0.46703	T	0.11	.	9.484300	0.389190	0.0:0.892:0.0:0.108	.	867;875;875;867	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	875;867;78	ENSP00000366755:P875S;ENSP00000355031:P867S	ENSP00000355031:P867S	P	+	1	0	PER3	7810199	1.000000e-03	0.127200	4.900000e-02	0.190190	5.700000e-02	0.155080	0.675000	0.252320	2.240000	0.736410	0.555000	0.697020	CCA		TCGA-HV-AA8X-01A-11D-A397-08	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	0	0	0	7	765	0	149	0	9.266273e-02	0	48	0	149	2		0	0	0	0	0	2	1	0.979723	7	755	0	146	2		0	0	0	0	0	2	-1.879840	0	1	0	0		1	0	0	0	2.047870	0	0.630000	1.930000	0.630000	0.020000	0	0.060000	0.030000	0.031841	0.020000	0	0.010000	0.050000
RERE	473	broad.mit.edu	37	1	8418382	8418382	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr1:8418382G>A	ENST00000337907.3	-	21	4847	c.4213C>T	c.(4213-4215)Cgc>Tgc	p.R1405C	RERE_ENST00000400908.2_Missense_Mutation_p.R1405C|RERE_ENST00000476556.1_Missense_Mutation_p.R851C|RERE_ENST00000377464.1_Missense_Mutation_p.R1137C|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats			49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)			GATGCCATGCGCTCTGCGTGG	0.642000																								0							SO:0001583	missense			ENST00000337907.3	0	1	hg19	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	22.900000	4.347872	0.820220	0.0	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.60548	0.18;0.2;0.18	5.610000	5.610000	0.854770	.	.	.	.	.	T	0.78065	0.4225	M	0.78637	2.42	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	T	0.79732	-0.1680	9	0.87932	D	0	-28.4026	18.989600	0.927860	0.0:0.0:1.0:0.0	.	1405	Q9P2R6	RERE_HUMAN	C	1405;1137;851;1405	ENSP00000338629:R1405C;ENSP00000366684:R1137C;ENSP00000383700:R1405C	ENSP00000338629:R1405C	R	-	1	0	RERE	8340969	1	0.714170	1	0.803570	9.680000e-01	0.652780	4.049000	0.573970	2.793000	0.961210	0.655000	0.942530	CGC		TCGA-HV-AA8X-01A-11D-A397-08	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1	1	0	1	11	86	0	19	1	9.978381e-01	12	78	0	19	2		0	0	0	0	0	2	1	0.998658	11	86	0	19	2		0	0	0	0	0	2	-17.733590	1	0	121310	1	21	1	0	0	0	2.047870	0	0.630000	1.930000	0.630000	0.360000	1.900000e-01	0.590000	0.360000	0.382482	0.360000	0	0.270000	0.480000
KIF16B	55614	broad.mit.edu	37	20	16360059	16360059	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr20:16360059C>G	ENST00000354981.2	-	19	2745	c.2588G>C	c.(2587-2589)tGt>tCt	p.C863S	KIF16B_ENST00000355755.3_Missense_Mutation_p.C863S|KIF16B_ENST00000378003.2_Missense_Mutation_p.C89S|KIF16B_ENST00000408042.1_Missense_Mutation_p.C863S	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B			74					ACATTTTAAACACTCTAGGAT	0.403000																								0							SO:0001583	missense			ENST00000354981.2	0	1	hg19	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	0.484000	-0.878412	0.025500	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.600000	-10.400000	0.003180	.	0.880733	0.10214	N	0.701715	T	0.04952	0.0133	N	0.08118	0	0.093100	N	1.000000	B;B;B;B	0.12013	0.001;0.005;0.001;0.001	B;B;B;B	0.13407	0.006;0.009;0.009;0.003	T	0.26780	-1.0093	10	0.17832	T	0.49	.	5.157200	0.150400	0.1466:0.2449:0.073:0.5355	.	863;863;863;863	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	S	863;863;707;89;863	ENSP00000347076:C863S;ENSP00000347995:C863S;ENSP00000367242:C89S;ENSP00000384164:C863S	ENSP00000347076:C863S	C	-	2	0	KIF16B	16308059	0	0.058580	0	0.037020	1.000000e-03	0.015030	-0.795000	0.045800	-2.085000	0.008640	-0.781000	0.033640	TGT		TCGA-HV-AA8X-01A-11D-A397-08	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	0	0	0	9	485	0	92	0	2.911041e-02	0	13	0	92	2		0	0	0	0	0	2	1	0.994141	9	482	0	92	2		0	0	0	0	0	2	-7.927780	1	1	0	0		1	0	0	0	2.039696	0	0.630000	1.930000	0.630000	0.050000	2.000000e-02	0.110000	0.060000	0.063919	0.050000	0	0.030000	0.080000
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr22:35796511G>A	ENST00000216122.4	+	2	234	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_ENST00000382011.5_Missense_Mutation_p.R27H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5			29					GGGCAGGCCCGCAAATCGCAG	0.647000																								0							SO:0001583	missense			ENST00000216122.4	0	1	hg19	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	19.690000	3.874705	0.721800	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.19;3.84;1.5	5.080000	5.080000	0.687300	.	0.420814	0.26563	N	0.023669	T	0.14787	0.0357	N	0.03608	-0.345	0.416280	D	0.989009	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07195	-1.0785	10	0.41790	T	0.15	-21.2565	11.579700	0.508830	0.0832:0.0:0.9168:0.0	.	27;27	B1AHB1;P33992	.;MCM5_HUMAN	H	27	ENSP00000216122:R27H;ENSP00000371441:R27H;ENSP00000393977:R27H	ENSP00000216122:R27H	R	+	2	0	MCM5	34126511	1	0.714170	1	0.803570	9.920000e-01	0.810270	6.291000	0.727190	2.342000	0.796320	0.455000	0.322230	CGC		TCGA-HV-AA8X-01A-11D-A397-08	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3	0	0	0	5	282	0	57	0	4.178626e-01	0	71	0	57	2		0	0	0	0	0	2	1	0.936926	6	279	0	57	2		0	0	0	0	0	2	-2.686801	1	1	0	0		1	0	0	0	2.026077	0	0.630000	1.930000	0.627654	0.050000	1.000000e-02	0.120000	0.060000	0.065343	0.050000	0	0.030000	0.090000
DPP10	57628	broad.mit.edu	37	2	116066832	116066832	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:116066832C>A	ENST00000410059.1	+	2	558	c.78C>A	c.(76-78)agC>agA	p.S26R	DPP10_ENST00000310323.8_Missense_Mutation_p.S19R|DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000393147.2_Missense_Mutation_p.S30R	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)			101					GAAGTAACAGCCCTCCACAGA	0.403000																								0							SO:0001583	missense			ENST00000410059.1	1	1	hg19	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	12.680000	2.011923	0.355110	.	.	ENSG00000175497	ENST00000410059;ENST00000393146;ENST00000393147;ENST00000310323	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.600000	2.800000	0.328190	.	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.66939	2.045	0.493890	D	0.999782	B;B;B;B	0.34103	0.331;0.437;0.113;0.192	B;B;B;B	0.32342	0.144;0.117;0.046;0.046	T	0.48139	-0.9061	10	0.87932	D	0	-1.0384	10.657200	0.456820	0.0:0.7958:0.0:0.2042	.	19;30;22;26	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	R	26;22;30;19	ENSP00000386565:S26R;ENSP00000376854:S22R;ENSP00000376855:S30R;ENSP00000309066:S19R	ENSP00000309066:S19R	S	+	3	2	DPP10	115783302	9.990000e-01	0.422020	1	0.803570	9.980000e-01	0.957120	0.653000	0.249020	1.369000	0.461340	0.655000	0.942530	AGC		TCGA-HV-AA8X-01A-11D-A397-08	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	1	0	1	48	130	0	19	1	5.156707e-01	5	1	0	19	2		0	0	0	0	0	2	1	1.000000	48	126	0	19	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.039531	0	0.630000	1.930000	0.630000	0.850000	6.500000e-01	1.000000	1.000000	0.856236	0.850000	1	0.750000	0.960000
NEB	4703	broad.mit.edu	37	2	152420121	152420121	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:152420121G>A	ENST00000172853.10	-	91	13736	c.13589C>T	c.(13588-13590)gCg>gTg	p.A4530V	NEB_ENST00000603639.1_Splice_Site_p.A6231V|NEB_ENST00000409198.1_Splice_Site_p.A4530V|NEB_ENST00000427231.2_Splice_Site_p.A6231V|NEB_ENST00000604864.1_Splice_Site_p.A6231V|NEB_ENST00000397345.3_Splice_Site_p.A6231V			P20929	NEBU_HUMAN	nebulin	p.A4530E(1)|p.A6231E(1)		301					TTTACTTACCGCACTCCTCAT	0.473000																								2	Substitution - Missense(2)						SO:0001630	splice_region_variant			ENST00000172853.10	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	13.400000	2.225906	0.393000	2.53E-4	0.0	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.540000	-4.980000	0.030190	.	0.604415	0.18713	N	0.133230	T	0.22859	0.0552	L	0.44542	1.39	0.807220	D	1.000000	B;B	0.11235	0.001;0.004	B;B	0.11329	0.003;0.006	T	0.01805	-1.1270	10	0.39692	T	0.17	.	14.000500	0.644310	0.6299:0.0:0.3701:0.0	.	4530;961	P20929;Q14215	NEBU_HUMAN;.	V	4530;6231;6231;579;961;4530	ENSP00000386259:A4530V;ENSP00000380505:A6231V;ENSP00000416578:A6231V;ENSP00000410961:A961V;ENSP00000172853:A4530V	ENSP00000172853:A4530V	A	-	2	0	NEB	152128367	8.760000e-01	0.301320	5.370000e-01	0.280520	8.600000e-01	0.491310	0.075000	0.146860	-1.451000	0.019330	-0.259000	0.107100	GCG		TCGA-HV-AA8X-01A-11D-A397-08	NEB-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	193	596	0	110	1	2.540230e-01	2	2	0	110	2		0	0	0	0	0	2	1	1.000000	193	593	0	110	2		0	0	0	0	0	2	-20.000000	1	1	120904	5	43	1	1	2	3	2.468950	1	0.630000	1.930000	0.703727	0.980000	8.500000e-01	1.000000	1.000000	0.965202	0.980000	1	0.910000	1.000000
TTN	7273	broad.mit.edu	37	2	179438185	179438185	+	Missense_Mutation	SNP	G	G	A	rs55992239		TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179438185G>A	ENST00000591111.1	-	276	67975	c.67751C>T	c.(67750-67752)cCg>cTg	p.P22584L	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21657L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15160L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P24225L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15352L|TTN_ENST00000359218.5_Missense_Mutation_p.P15285L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		GTTTTTGGGCGGATCAGGGGG	0.438000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.340000	2.804563	0.503150	0.0	3.63E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	6.080000	6.080000	0.989890	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84656	0.5520	H	0.95402	3.665	0.807220	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.87855	0.2660	9	0.87932	D	0	.	20.663400	0.996620	0.0:0.0:1.0:0.0	rs55992239	15160;15285;15352;22584	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	21657;15160;15352;15285;15158	ENSP00000343764:P21657L;ENSP00000434586:P15160L;ENSP00000340554:P15352L;ENSP00000352154:P15285L	ENSP00000340554:P15352L	P	-	2	0	TTN	179146431	1	0.714170	1	0.803570	9.960000e-01	0.888480	9.807000	0.991710	2.894000	0.992530	0.655000	0.942530	CCG		TCGA-HV-AA8X-01A-11D-A397-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	5	477	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.934700	5	468	0	54	2		0	0	0	0	0	2	-2.303879	0	1	118970	8	44	1	1	2	3	2.468950	1	0.630000	1.930000	0.703727	0.040000	0	1.000000	0.050000	0.198145	0.040000	0	0.020000	0.130000
TTN	7273	broad.mit.edu	37	2	179635138	179635138	+	Splice_Site	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:179635138C>T	ENST00000591111.1	-	35	8605		c.e35+1		TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		AATCAACTTACTCTCCACGTG	0.433000																								0							SO:0001630	splice_region_variant			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.000000	4.080897	0.765280	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	6.060000	6.060000	0.983530	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.628200	0.995210	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179343383	1	0.714170	1	0.803570	7.020000e-01	0.406080	7.814000	0.861540	2.871000	0.984540	0.655000	0.942530	.		TCGA-HV-AA8X-01A-11D-A397-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	11	364	0	62		0	0	0	0	62	2	0	0	0	1	0	0	2	1	0.998367	11	363	0	62	2		0	0	0	0	0	2	-11.311390	1	1	0	0		1	1	2	3	2.468950	1	0.630000	1.930000	0.703727	0.120000	5.000000e-02	1.000000	0.110000	0.263749	0.120000	0	0.080000	0.250000
FN1	2335	broad.mit.edu	37	2	216274779	216274779	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:216274779G>A	ENST00000359671.1	-	14	2265	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I	FN1_ENST00000357867.4_Missense_Mutation_p.T667I|FN1_ENST00000345488.5_Missense_Mutation_p.T667I|FN1_ENST00000336916.4_Missense_Mutation_p.T667I|FN1_ENST00000432072.2_Missense_Mutation_p.T667I|FN1_ENST00000446046.1_Missense_Mutation_p.T667I|FN1_ENST00000357009.2_Missense_Mutation_p.T667I|FN1_ENST00000346544.3_Missense_Mutation_p.T667I|FN1_ENST00000356005.4_Missense_Mutation_p.T667I|FN1_ENST00000323926.6_Missense_Mutation_p.T667I|FN1_ENST00000421182.1_Missense_Mutation_p.T667I|FN1_ENST00000443816.1_Missense_Mutation_p.T667I|FN1_ENST00000354785.4_Missense_Mutation_p.T667I			P02751	FINC_HUMAN	fibronectin 1		FN1/ALK(2)	109		Renal(323;0.127)		Ocriplasmin(DB08888)	GCCTTTGATGGTGTAGGAGTT	0.488000																								0							SO:0001583	missense			ENST00000359671.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	21.700000	4.187476	0.787890	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.650000	2.880000	0.335530	.	0.312951	0.30969	N	0.008503	T	0.67711	0.2922	L	0.55990	1.75	0.807220	D	1.000000	D;D;P;P;P;D;D;P;P;D	0.89917	1.0;0.999;0.85;0.894;0.913;1.0;1.0;0.894;0.894;1.0	D;D;P;P;P;D;D;P;P;D	0.91635	0.999;0.995;0.521;0.701;0.711;0.989;0.999;0.701;0.701;0.999	T	0.65429	-0.6170	10	0.41790	T	0.15	.	10.478400	0.446780	0.2083:0.0:0.7917:0.0	.	667;667;667;667;667;667;667;667;667;667	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	I	667	ENSP00000394423:T667I;ENSP00000323534:T667I;ENSP00000338200:T667I;ENSP00000350534:T667I;ENSP00000346839:T667I;ENSP00000352696:T667I;ENSP00000265312:T667I;ENSP00000273049:T667I;ENSP00000349509:T667I;ENSP00000410422:T667I;ENSP00000415018:T667I;ENSP00000399538:T667I;ENSP00000348285:T667I	ENSP00000265313:T667I	T	-	2	0	FN1	215983024	1	0.714170	9.980000e-01	0.565050	9.990000e-01	0.989320	5.754000	0.687430	0.870000	0.357260	0.655000	0.942530	ACC		TCGA-HV-AA8X-01A-11D-A397-08	FN1-204	KNOWN	basic	protein_coding	protein_coding		1	0	0	107	103	0	31	0	1	0	180	0	31	2		0	0	0	0	0	2	1	1.000000	106	102	0	31	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.468950	1	0.630000	1.930000	0.703727	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
C2orf71	388939	broad.mit.edu	37	2	29296840	29296840	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:29296840G>A	ENST00000331664.5	-	1	287	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71			60					AAGAGGTTTTGGTTCCTGGGA	0.483000																								0							SO:0001819	synonymous_variant			ENST00000331664.5	1	1	hg19	CCDS42669.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	1	0	1	184	392	0	123	0	0	0	1	0	123	2		0	0	0	0	0	2	1	1.000000	183	390	0	123	2		0	0	0	0	0	2	-14.444490	1	1	0	0		1	0	0	0	2.039820	0	0.630000	1.930000	0.630000	0.990000	8.900000e-01	1.000000	1.000000	0.982143	0.990000	1	0.940000	1.000000
SOX11	6664	broad.mit.edu	37	2	5833606	5833606	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:5833606G>A	ENST00000322002.3	+	1	808	c.753G>A	c.(751-753)ccG>ccA	p.P251P	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11			13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)				AGGAACCACCGCACCAGCAGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000322002.3	0	1	hg19	CCDS1654.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	1	0	0	10	28	0	10	0	8.048780e-02	0	2	0	10	2		0	0	0	0	0	2	1	0.997875	9	28	0	10	2		0	0	0	0	0	2	-19.987300	1	1	0	0		1	0	0	0	2.039820	0	0.630000	1.930000	0.630000	0.840000	4.600000e-01	1.000000	1.000000	0.823198	0.840000	0	0.630000	1.000000
VWA3B	200403	broad.mit.edu	37	2	98928694	98928694	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr2:98928694G>A	ENST00000477737.1	+	28	3971	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					GCGGCCGGGCGTCTAGGACTC	0.607000																								0							SO:0001583	missense			ENST00000477737.1	1	1	hg19	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	9.632000	1.136653	0.211230	.	.	ENSG00000168658	ENST00000477737;ENST00000473149;ENST00000358269	T	0.07216	3.21	4.090000	-2.350000	0.066840	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.093100	N	1.000000	B	0.21452	0.056	B	0.13407	0.009	T	0.41466	-0.9507	9	0.39692	T	0.17	.	1.152600	0.017890	0.3414:0.1436:0.3684:0.1466	.	1256	Q502W6	VWA3B_HUMAN	H	1256;722;378	ENSP00000417955:R1256H	ENSP00000351009:R378H	R	+	2	0	VWA3B	98295126	0	0.058580	0	0.037020	0	0.004340	-0.062000	0.116740	-0.480000	0.068030	-1.121000	0.020130	CGT		TCGA-HV-AA8X-01A-11D-A397-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	1	0	1	69	112	0	46	0	0	0	1	0	46	2		0	0	0	0	0	2	1	1.000000	69	111	0	46	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.039820	0	0.630000	1.930000	0.630000	0.990000	9.800000e-01	1.000000	1.000000	0.998782	0.990000	1	0.990000	1.000000
CAND2	23066	broad.mit.edu	37	3	12856671	12856671	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:12856671C>T	ENST00000456430.2	+	8	1079	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	CAND2_ENST00000295989.5_Silent_p.D253D	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)			37					ATGACGATGACATGAGCTGGA	0.617000													GBM(43;676 868 1633 6395 37496)											0							SO:0001819	synonymous_variant			ENST00000456430.2	1	1	hg19	CCDS54554.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	1	0	1	66	74	0	50	0	2.243672e-01	0	2	0	50	2		0	0	0	0	0	2	1	1.000000	65	74	0	50	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.411057	1	0.630000	1.930000	0.459854	0.940000	8.000000e-01	1.000000	0.990000	0.937121	0.940000	1	0.880000	0.990000
GPR171	29909	broad.mit.edu	37	3	150916417	150916417	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:150916417C>T	ENST00000309180.5	-	3	987	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171			15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		TCAGTTATGACTTCTGTCTGG	0.458000																								0							SO:0001583	missense			ENST00000309180.5	0	1	hg19	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	C	12.700000	2.016594	0.356060	.	.	ENSG00000174946	ENST00000309180	T	0.20738	2.05	5.610000	2.710000	0.320320	GPCR, rhodopsin-like superfamily (1);	0.245951	0.32028	N	0.006693	T	0.12944	0.0314	L	0.33485	1.01	0.310770	N	0.712308	B	0.10296	0.003	B	0.13407	0.009	T	0.22730	-1.0208	10	0.19147	T	0.46	-10.4765	6.008000	0.195570	0.2855:0.5747:0.0:0.1398	.	253	O14626	GP171_HUMAN	I	253	ENSP00000308479:V253I	ENSP00000308479:V253I	V	-	1	0	GPR171	152399107	3.500000e-02	0.197360	2.070000e-01	0.235840	9.870000e-01	0.754690	0.419000	0.212470	0.241000	0.212830	0.650000	0.862430	GTC		TCGA-HV-AA8X-01A-11D-A397-08	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	0	0	0	4	241	0	46	0	4.897479e-04	0	2	0	46	2		0	0	0	0	0	2	1	0.890149	4	240	0	46	2		0	0	0	0	0	2	-5.252497	1	1	0	0		1	0	1	1	2.037829	0	0.630000	1.930000	0.628831	0.050000	1.000000e-02	0.130000	0.060000	0.063813	0.050000	0	0.030000	0.090000
NEK10	152110	broad.mit.edu	37	3	27385769	27385769	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:27385769A>T	ENST00000429845.2	-	6	718	c.356T>A	c.(355-357)aTa>aAa	p.I119K	NEK10_ENST00000341435.5_Missense_Mutation_p.I119K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10			41					TTACCTGCTTATGAGTCTATT	0.368000																								0							SO:0001583	missense			ENST00000429845.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	14.380000	2.516764	0.447630	.	.	ENSG00000163491	ENST00000341435;ENST00000396636;ENST00000435750	T;T	0.69806	-0.43;1.43	5.770000	4.600000	0.570740	.	0.321330	0.34362	N	0.004032	T	0.43322	0.1242	N	0.08118	0	0.807220	D	1.000000	B	0.27068	0.167	B	0.23275	0.045	T	0.39165	-0.9627	10	0.59425	D	0.04	.	7.836100	0.293710	0.7204:0.1429:0.0:0.1367	.	119	Q6ZWH5	NEK10_HUMAN	K	119	ENSP00000343847:I119K;ENSP00000395338:I119K	ENSP00000343847:I119K	I	-	2	0	NEK10	27360773	1	0.714170	1	0.803570	9.400000e-01	0.583320	1.392000	0.344860	1.093000	0.413770	0.533000	0.621200	ATA		TCGA-HV-AA8X-01A-11D-A397-08	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	1	0	1	61	68	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	1.000000	61	67	0	24	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.411057	1	0.630000	1.930000	0.459854	0.940000	8.000000e-01	1.000000	0.990000	0.935054	0.940000	1	0.870000	0.990000
STAB1	23166	broad.mit.edu	37	3	52554552	52554552	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr3:52554552G>A	ENST00000321725.6	+	53	5712	c.5636G>A	c.(5635-5637)cGg>cAg	p.R1879Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					TTTGAGACCCGGCCCCTGCGA	0.652000																								0							SO:0001583	missense			ENST00000321725.6	1	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	7.127000	0.579134	0.136860	.	.	ENSG00000010327	ENST00000321725	D	0.84442	-1.85	5.580000	-3.300000	0.050030	.	0.623306	0.16047	N	0.232123	T	0.56863	0.2014	N	0.03608	-0.345	0.093100	N	1.000000	B	0.14012	0.009	B	0.06405	0.002	T	0.48603	-0.9021	10	0.25751	T	0.34	.	1.102400	0.016870	0.4049:0.1113:0.1451:0.3386	.	1879	Q9NY15	STAB1_HUMAN	Q	1879	ENSP00000312946:R1879Q	ENSP00000312946:R1879Q	R	+	2	0	STAB1	52529592	0	0.058580	1.000000e-03	0.086480	2.200000e-02	0.105750	0.111000	0.154580	-0.269000	0.092980	-0.136000	0.146810	CGG		TCGA-HV-AA8X-01A-11D-A397-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	1	0	1	45	72	0	31	0	9.376665e-01	0	10	0	31	2		0	0	0	0	0	2	1	1.000000	43	72	0	30	2		0	0	0	0	0	2	-20.000000	1	1	121274	1	32	1	0	1	1	1.411057	1	0.630000	1.930000	0.459854	0.820000	6.400000e-01	0.970000	0.830000	0.823216	0.820000	0	0.720000	0.910000
DMXL1	1657	broad.mit.edu	37	5	118484750	118484750	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:118484750G>T	ENST00000311085.8	+	18	3308	c.3228G>T	c.(3226-3228)atG>atT	p.M1076I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M1076I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1			86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)			ACTTTGTGATGCATGTAAGTA	0.413000																								0							SO:0001583	missense			ENST00000311085.8	1	1	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	13.780000	2.339688	0.413980	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.30182	1.54;1.54	5.650000	5.650000	0.869990	.	0.039008	0.85682	D	0.000000	T	0.31949	0.0813	L	0.42581	1.335	0.510120	D	0.999902	B;B	0.21821	0.061;0.021	B;B	0.19946	0.027;0.012	T	0.03278	-1.1053	10	0.41790	T	0.15	-15.3466	20.096500	0.978490	0.0:0.0:1.0:0.0	.	1076;1076	F5H269;Q9Y485	.;DMXL1_HUMAN	I	1076	ENSP00000309690:M1076I;ENSP00000439479:M1076I	ENSP00000309690:M1076I	M	+	3	0	DMXL1	118512649	1	0.714170	1	0.803570	9.970000e-01	0.918780	4.545000	0.606980	2.824000	0.972090	0.655000	0.942530	ATG		TCGA-HV-AA8X-01A-11D-A397-08	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1	59	321	0	78	0	2.501606e-02	0	2	0	78	2		0	0	0	0	0	2	1	1.000000	59	317	0	78	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.049633	0	0.630000	1.930000	0.630000	0.490000	3.800000e-01	0.610000	0.490000	0.497850	0.490000	0	0.430000	0.550000
PCDHGA3	56112	broad.mit.edu	37	5	140725536	140725536	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:140725536G>A	ENST00000253812.6	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3			1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CGTGGTGGCCGTCCAGGACCA	0.711000																								0							SO:0001583	missense			ENST00000253812.6	0	1	hg19	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	19.310000	3.802551	0.706820	.	.	ENSG00000254245	ENST00000253812	T	0.61510	0.1	5.120000	5.120000	0.697940	Cadherin (4);Cadherin-like (1);	0.000000	0.30329	U	0.009862	T	0.69566	0.3125	M	0.85462	2.755	0.306170	N	0.758850	D;P	0.53619	0.961;0.861	P;P	0.51324	0.666;0.458	T	0.75789	-0.3194	10	0.72032	D	0.01	.	12.057700	0.535440	0.0807:0.0:0.9193:0.0	.	646;646	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	I	646	ENSP00000253812:V646I	ENSP00000253812:V646I	V	+	1	0	PCDHGA3	140705720	1	0.714170	9.780000e-01	0.431390	9.980000e-01	0.957120	5.628000	0.677910	2.566000	0.865660	0.558000	0.716140	GTC		TCGA-HV-AA8X-01A-11D-A397-08	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	0	0	0	19	331	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.524334	7	115	1	87	7		0	0	0	0	0	2	-19.982850	1	0	119154	22	35	1	0	0	0	2.049633	0	0.630000	1.930000	0.630000	0.170000	1.000000e-01	0.260000	0.180000	0.180057	0.170000	0	0.130000	0.220000
ADAMTS16	170690	broad.mit.edu	37	5	5303758	5303758	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:5303758C>T	ENST00000274181.7	+	20	3203	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					TCGGCCAGAGCGCAGCTGCTG	0.627000																								0							SO:0001583	missense			ENST00000274181.7	0	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	11.240000	1.580800	0.281800	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.790000	4.790000	0.613990	.	0.128592	0.52532	D	0.000076	T	0.43211	0.1237	L	0.33753	1.03	0.321020	N	0.590414	B;B	0.25719	0.132;0.101	B;B	0.23716	0.048;0.03	T	0.51671	-0.8676	10	0.36615	T	0.2	.	15.706800	0.775880	0.0:1.0:0.0:0.0	.	1022;1022	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	1022	ENSP00000274181:A1022V	ENSP00000274181:A1022V	A	+	2	0	ADAMTS16	5356758	6.300000e-01	0.271550	4.000000e-02	0.184470	2.600000e-02	0.113680	3.024000	0.496740	2.359000	0.800040	0.650000	0.862430	GCG		TCGA-HV-AA8X-01A-11D-A397-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	0	0	5	166	0	34	0	0	0	1	0	34	2		0	0	0	0	0	2	1	0.934529	5	162	0	34	2		0	0	0	0	0	2	-3.703256	1	1	121168	3	34	1	1	2	3	2.058374	0	0.630000	1.930000	0.631162	0.090000	3.000000e-02	0.210000	0.100000	0.110077	0.090000	0	0.060000	0.150000
CCNO	10309	broad.mit.edu	37	5	54527370	54527370	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:54527370G>A	ENST00000282572.4	-	3	1042	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	RP11-506H20.1_ENST00000506435.1_RNA	NM_021147.3	NP_066970.3	P22674	CCNO_HUMAN	cyclin O			5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)		CGCGAGACCCGCAGCATGCGG	0.667000																								0							SO:0001583	missense			ENST00000282572.4	1	1	hg19	CCDS34157.1	.	.	.	.	.	.	.	.	.	.	G	14.460000	2.540955	0.452800	.	.	ENSG00000152669	ENST00000282572	T	0.44881	0.91	5.610000	-1.390000	0.089970	Cyclin, C-terminal (1);Cyclin-like (3);	1.557100	0.03904	N	0.280760	T	0.30823	0.0777	N	0.14661	0.345	0.093100	N	1.000000	D	0.58620	0.983	P	0.47376	0.545	T	0.28004	-1.0057	10	0.72032	D	0.01	.	5.156300	0.150360	0.0643:0.1857:0.3444:0.4056	.	296	P22674	CCNO_HUMAN	W	296	ENSP00000282572:R296W	ENSP00000282572:R296W	R	-	1	2	CCNO	54563127	3.000000e-02	0.194360	6.000000e-03	0.133840	4.300000e-01	0.316550	0.723000	0.259390	0.006000	0.147340	-0.500000	0.045770	CGG		TCGA-HV-AA8X-01A-11D-A397-08	CCNO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369707.1	1	0	1	47	128	0	31	1	9.999363e-01	20	24	0	31	2		0	0	0	0	0	2	1	1.000000	47	124	0	31	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.058374	0	0.630000	1.930000	0.631162	0.850000	6.500000e-01	1.000000	1.000000	0.855491	0.850000	1	0.750000	0.970000
ZFYVE16	9765	broad.mit.edu	37	5	79745505	79745505	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:79745505C>G	ENST00000338008.5	+	8	3379	c.3199C>G	c.(3199-3201)Cta>Gta	p.L1067V	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.L1067V|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.L1067V	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16			51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)			AAATGCTAATCTACTCGTGAA	0.323000													Melanoma(150;1452 1854 16018 17851 37292)											0							SO:0001583	missense			ENST00000338008.5	1	1	hg19	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	17.290000	3.352893	0.612930	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.66280	-0.2;-0.2;-0.2	5.910000	5.910000	0.952730	.	0.000000	0.49305	D	0.000142	T	0.75057	0.3798	M	0.71036	2.16	0.496870	D	0.999811	D	0.65815	0.995	D	0.64144	0.922	T	0.77099	-0.2713	10	0.87932	D	0	-8.6405	11.599100	0.509930	0.0:0.8886:0.0:0.1114	.	1067	Q7Z3T8	ZFY16_HUMAN	V	1067	ENSP00000337159:L1067V;ENSP00000423663:L1067V;ENSP00000426848:L1067V	ENSP00000337159:L1067V	L	+	1	2	ZFYVE16	79781261	1	0.714170	9.910000e-01	0.477400	4.590000e-01	0.325280	3.339000	0.521350	2.804000	0.964690	0.650000	0.862430	CTA		TCGA-HV-AA8X-01A-11D-A397-08	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	1	0	1	113	314	0	72	1	8.936050e-01	7	6	0	72	2		0	0	0	0	0	2	1	1.000000	113	312	0	72	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.049633	0	0.630000	1.930000	0.630000	0.830000	7.000000e-01	0.970000	0.840000	0.842133	0.830000	0	0.760000	0.910000
NR2F1	7025	broad.mit.edu	37	5	92924048	92924048	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr5:92924048G>A	ENST00000327111.3	+	2	2576	c.889G>A	c.(889-891)Gac>Aac	p.D297N	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1			21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)			GGCCTTCATGGACCACATCCG	0.657000																								0							SO:0001583	missense			ENST00000327111.3	1	1	hg19	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	35.000000	5.521082	0.964160	.	.	ENSG00000175745	ENST00000327111	D	0.96967	-4.19	4.300000	4.300000	0.512180	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.170267	0.49305	D	0.000157	D	0.97486	0.9177	M	0.62723	1.935	0.807220	D	1.000000	D	0.89917	1.0	D	0.79784	0.993	D	0.98117	1.0423	10	0.62326	D	0.03	.	16.543000	0.844070	0.0:0.0:1.0:0.0	.	297	P10589	COT1_HUMAN	N	297	ENSP00000325819:D297N	ENSP00000325819:D297N	D	+	1	0	NR2F1	92949804	1	0.714170	1	0.803570	9.840000e-01	0.730920	9.535000	0.980640	2.205000	0.710480	0.313000	0.208870	GAC		TCGA-HV-AA8X-01A-11D-A397-08	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	1	0	1	48	253	0	56	0	9.794424e-01	0	35	0	56	2		0	0	0	0	0	2	1	1.000000	48	249	0	55	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.049633	0	0.630000	1.930000	0.630000	0.500000	3.800000e-01	0.640000	0.500000	0.512377	0.500000	0	0.430000	0.580000
BEND3	57673	broad.mit.edu	37	6	107391144	107391144	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:107391144C>T	ENST00000369042.1	-	4	1441	c.1251G>A	c.(1249-1251)cgG>cgA	p.R417R	BEND3_ENST00000429433.2_Silent_p.R417R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3			30					CGGGGAAGAGCCGGTGGAGGA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000369042.1	0	1	hg19	CCDS34507.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	0	0	0	4	169	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.888569	4	167	0	52	2		0	0	0	0	0	2	-5.850452	1	0	0	0		1	0	1	1	1.402712	1	0.630000	1.930000	0.459854	0.050000	1.000000e-02	0.120000	0.050000	0.061701	0.050000	0	0.030000	0.090000
TMEM200A	114801	broad.mit.edu	37	6	130761706	130761706	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:130761706G>T	ENST00000296978.3	+	3	1010	c.139G>T	c.(139-141)Gat>Tat	p.D47Y	TMEM200A_ENST00000392429.1_Missense_Mutation_p.D47Y|TMEM200A_ENST00000545622.1_Missense_Mutation_p.D47Y	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A			52					GCCCCGGGCAGATGTTGTGGT	0.507000																								0							SO:0001583	missense			ENST00000296978.3	1	1	hg19	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	G	20.100000	3.935617	0.734420	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.600000	5.600000	0.851300	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.65498	2.005	0.807220	D	1.000000	D	0.89917	1.0	D	0.91635	0.999	T	0.77446	-0.2585	9	0.87932	D	0	.	19.608800	0.955940	0.0:0.0:1.0:0.0	.	47	Q86VY9	T200A_HUMAN	Y	47	.	ENSP00000296978:D47Y	D	+	1	0	TMEM200A	130803399	1	0.714170	6.570000e-01	0.296510	9.080000e-01	0.536900	9.668000	0.986190	2.623000	0.888460	0.650000	0.862430	GAT		TCGA-HV-AA8X-01A-11D-A397-08	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	1	0	1	155	160	0	76	0	9.986552e-01	0	14	0	76	2		0	0	0	0	0	2	1	1.000000	151	157	0	75	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.402712	1	0.630000	1.930000	0.459854	0.970000	9.000000e-01	1.000000	0.990000	0.972677	0.970000	1	0.940000	1.000000
VPS52	6293	broad.mit.edu	37	6	33234430	33234430	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:33234430G>A	ENST00000445902.2	-	12	1403	c.1185C>T	c.(1183-1185)cgC>cgT	p.R395R	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Silent_p.R270R|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)			28					AAAGGTATTCGCGGCAGGAAT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000445902.2	1	1	hg19	CCDS4770.2																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	0	0	0	8	254	0	52	1	8.124794e-01	6	94	0	52	2		0	0	0	0	0	2	1	0.988467	8	247	0	50	2		0	0	0	0	0	2	-3.482629	1	1	118000	3	32	1	0	0	0	2.008919	0	0.630000	1.930000	0.625279	0.090000	4.000000e-02	0.180000	0.100000	0.106619	0.090000	0	0.060000	0.140000
UBR2	23304	broad.mit.edu	37	6	42571440	42571440	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:42571440G>A	ENST00000372899.1	+	5	904	c.646G>A	c.(646-648)Gca>Aca	p.A216T	UBR2_ENST00000372903.2_Missense_Mutation_p.A216T|UBR2_ENST00000372901.1_Missense_Mutation_p.A216T	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	p.A216T(1)		64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		TGAATTGCCAGCAGATTTAGA	0.313000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000372899.1	1	1	hg19	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	12.410000	1.928522	0.340020	.	.	ENSG00000024048	ENST00000372903;ENST00000372899;ENST00000372901	T;T;T	0.73469	-0.75;0.21;0.21	5.580000	1.670000	0.240750	.	0.829390	0.10744	N	0.639102	T	0.30166	0.0756	N	0.08118	0	0.807220	D	1.000000	B;B	0.15473	0.004;0.013	B;B	0.25506	0.007;0.061	T	0.25187	-1.0139	10	0.12430	T	0.62	-7.2156	6.146600	0.202890	0.0821:0.3568:0.4611:0.1	.	216;216	Q8IWV8;Q8IWV8-2	UBR2_HUMAN;.	T	216	ENSP00000361994:A216T;ENSP00000361990:A216T;ENSP00000361992:A216T	ENSP00000361990:A216T	A	+	1	0	UBR2	42679418	9.960000e-01	0.388240	9.980000e-01	0.565050	9.880000e-01	0.763860	0.427000	0.213790	0.728000	0.323820	0.650000	0.862430	GCA		TCGA-HV-AA8X-01A-11D-A397-08	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	1	0	1	110	259	0	76	1	9.096810e-01	7	5	0	76	2		0	0	0	0	0	2	1	1.000000	110	257	0	76	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	2.008919	0	0.630000	1.930000	0.625279	0.920000	7.800000e-01	1.000000	1.000000	0.927897	0.920000	1	0.850000	1.000000
MEP1A	4224	broad.mit.edu	37	6	46761185	46761185	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr6:46761185C>T	ENST00000230588.4	+	1	59	c.50C>T	c.(49-51)gCc>gTc	p.A17V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	p.A17V(1)		42			Lung(136;0.192)		TTGCTTTTTGCCCACATAGCA	0.348000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000230588.4	0	1	hg19	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	3.305000	-0.142020	0.066690	.	.	ENSG00000112818	ENST00000230588	T	0.24151	1.87	5.210000	-0.002690	0.140280	.	0.705821	0.14141	N	0.338738	T	0.04272	0.0118	N	0.25890	0.77	0.093100	N	0.999995	B;B	0.12013	0.004;0.005	B;B	0.10450	0.005;0.002	T	0.45673	-0.9245	10	0.11794	T	0.64	-3.8338	7.580800	0.279630	0.0:0.4834:0.0:0.5166	.	17;17	B7ZL91;Q16819	.;MEP1A_HUMAN	V	17	ENSP00000230588:A17V	ENSP00000230588:A17V	A	+	2	0	MEP1A	46869144	4.000000e-03	0.155600	7.830000e-01	0.318260	1.350000e-01	0.209900	-0.290000	0.083540	-0.016000	0.141270	0.655000	0.942530	GCC		TCGA-HV-AA8X-01A-11D-A397-08	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	0	0	0	5	531	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	0.936260	5	526	0	101	2		0	0	0	0	0	2	-1.636543	0	1	0	0		1	0	0	0	2.008919	0	0.630000	1.930000	0.625279	0.020000	0	0.070000	0.030000	0.034290	0.020000	0	0.010000	0.050000
TSPAN12	23554	broad.mit.edu	37	7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	p.P65Q(1)		10	all_neural(327;0.117)				AATCATGACCGGATGAACCAC	0.373000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000222747.3	0	1	hg19	CCDS5777.1	.	.	.	.	.	.	.	.	.	.	G	21.300000	4.127309	0.775490	.	.	ENSG00000106025	ENST00000222747;ENST00000415871;ENST00000441017;ENST00000433758;ENST00000424710;ENST00000430985	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.990000	5.990000	0.973160	.	0.052782	0.85682	D	0.000000	T	0.70500	0.3231	L	0.45581	1.43	0.807220	D	1.000000	B	0.32829	0.386	B	0.32465	0.146	T	0.65047	-0.6263	10	0.21540	T	0.41	-14.5881	20.537100	0.992320	0.0:0.0:1.0:0.0	.	65	O95859	TSN12_HUMAN	L	65	ENSP00000222747:P65L;ENSP00000397699:P65L;ENSP00000411158:P65L;ENSP00000399059:P65L;ENSP00000404942:P65L;ENSP00000388819:P65L	ENSP00000222747:P65L	P	-	2	0	TSPAN12	120266158	1	0.714170	1	0.803570	9.970000e-01	0.918780	8.398000	0.901950	2.857000	0.981240	0.650000	0.862430	CCG		TCGA-HV-AA8X-01A-11D-A397-08	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346951.1	0	0	0	6	541	0	89	0	3.449631e-02	0	22	0	89	2		0	0	0	0	0	2	1	0.964745	6	539	0	88	2		0	0	0	0	0	2	-1.800648	0	1	0	0		1	1	2	3	2.053747	0	0.630000	1.930000	0.631162	0.030000	0	0.080000	0.040000	0.040245	0.030000	0	0.010000	0.060000
ASB15	142685	broad.mit.edu	37	7	123269120	123269120	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:123269120G>A	ENST00000451558.1	+	12	1593	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	ASB15_ENST00000275699.3_Missense_Mutation_p.V358I|ASB15_ENST00000451215.1_Missense_Mutation_p.V358I|ASB15_ENST00000434204.1_Missense_Mutation_p.V358I|ASB15_ENST00000540573.1_Missense_Mutation_p.V358I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	p.V358I(1)		12					GTATTTTGGCGTTTCTAATAA	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000451558.1	1	1	hg19	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	g	24.400000	4.523476	0.856000	2.27E-4	0.0	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.170000	5.300000	0.749950	Ankyrin repeat-containing domain (4);	0.082444	0.50627	N	0.000109	T	0.73001	0.3531	L	0.45137	1.4	0.584320	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.75938	-0.3141	10	0.72032	D	0.01	.	15.858500	0.790050	0.0644:0.0:0.9356:0.0	.	358	Q8WXK1	ASB15_HUMAN	I	358;358;358;358;147;358	ENSP00000397655:V358I;ENSP00000390963:V358I;ENSP00000416433:V358I;ENSP00000438643:V358I;ENSP00000275699:V358I	ENSP00000275699:V358I	V	+	1	0	ASB15	123056356	1	0.714170	9.500000e-01	0.388490	8.820000e-01	0.509910	7.633000	0.832600	1.644000	0.506030	-0.119000	0.150520	GTT		TCGA-HV-AA8X-01A-11D-A397-08	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1	1	0	1	95	250	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	1.000000	94	249	0	63	2		0	0	0	0	0	2	-6.701459	1	1	121412	4	40	1	1	2	3	2.053747	0	0.630000	1.930000	0.631162	0.870000	7.200000e-01	1.000000	1.000000	0.877417	0.870000	1	0.790000	0.960000
SSPO	23145	broad.mit.edu	37	7	149516508	149516508	+	RNA	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:149516508C>T	ENST00000378016.2	+	0	11911							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		GCGCCGCCTGCGGGCATACCG	0.706000																								0											ENST00000378016.2	0	1	hg19																																																																																					TCGA-HV-AA8X-01A-11D-A397-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	0	19	111	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.999991	19	105	0	29	2		0	0	0	0	0	2	-4.090216	1	1	120318	57	45	1	1	2	3	2.083494	0	0.630000	1.930000	0.632316	0.470000	2.900000e-01	0.720000	0.460000	0.486957	0.470000	0	0.370000	0.580000
HOXA5	3202	broad.mit.edu	37	7	27182747	27182747	+	Silent	SNP	C	C	T			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr7:27182747C>T	ENST00000222726.3	-	1	540	c.480G>A	c.(478-480)gcG>gcA	p.A160A	HOXA6_ENST00000521478.1_5'Flank|HOXA-AS3_ENST00000521197.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA5_ENST00000520854.1_5'Flank|HOXA-AS3_ENST00000518848.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	p.A160A(2)		16					TCTGCGCACTCGCCTGCTCGC	0.692000													Colon(119;75 2200 7557 42868)											2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000222726.3	1	1	hg19	CCDS5406.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1	1	0	0	188	339	0	117	0	2.921013e-01	0	3	0	117	2		0	0	0	0	0	2	1	1.000000	184	328	0	111	2		0	0	0	0	0	2	-19.540590	1	1	120976	1	27	1	1	2	3	2.053747	0	0.630000	1.930000	0.631162	0.990000	9.900000e-01	1.000000	1.000000	0.999564	0.990000	1	0.990000	1.000000
MAPK15	225689	broad.mit.edu	37	8	144804265	144804265	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chr8:144804265G>A	ENST00000338033.4	+	14	1598	c.1479G>A	c.(1477-1479)ccG>ccA	p.P493P		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15			12	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)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		GGCTTCCTCCGGAGGCCCGGC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000338033.4	1	1	hg19	CCDS6409.2																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1	1	0	0	144	300	0	89	1	1	25	30	0	89	2		0	0	0	0	0	2	1	1.000000	139	298	0	86	2		0	0	0	0	0	2	-12.365830	1	1	120794	11	45	1	1	2	3	2.057093	0	0.630000	1.930000	0.631162	0.990000	8.900000e-01	1.000000	1.000000	0.985667	0.990000	1	0.950000	1.000000
DCAF12L2	340578	broad.mit.edu	37	X	125299404	125299404	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125299404G>A	ENST00000360028.2	-	1	530	c.504C>T	c.(502-504)ggC>ggT	p.G168G	DCAF12L2_ENST00000538699.1_Silent_p.G168G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2			64					TGGGGTTTTCGCCGCCGGTGG	0.672000																								0							SO:0001819	synonymous_variant			ENST00000360028.2	1	1	hg19	CCDS43991.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	1	0	1	82	226	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	77	219	0	57	2		0	0	0	0	0	2	-3.222832	1	1	121400	47	49	1	0	1	1			0.630000	1.930000	0.630000	0.840000	6.900000e-01	1.000000	0.840000	0.847277	0.840000	0	0.760000	0.930000
DCAF12L1	139170	broad.mit.edu	37	X	125686253	125686253	+	Silent	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1			68					ACTTGGTGCCGCACACCACCT	0.637000																								0							SO:0001819	synonymous_variant			ENST00000371126.1	0	1	hg19	CCDS14610.1																																																																																				TCGA-HV-AA8X-01A-11D-A397-08	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	0	0	0	5	291	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.937504	5	290	0	60	2		0	0	0	0	0	2	-2.516897	1	1	0	0		1	0	1	1			0.630000	1.930000	0.630000	0.050000	1.000000e-02	0.120000	0.060000	0.063747	0.050000	0	0.030000	0.090000
GDI1	2664	broad.mit.edu	37	X	153665646	153665646	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:153665646G>A	ENST00000447750.2	+	1	380		c.e1+1			NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1			16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CGGTCTCACCGTAAGTGCGGC	0.697000																								0							SO:0001630	splice_region_variant			ENST00000447750.2	0	1	hg19	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	14.220000	2.469539	0.438390	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	.	.	.	3.710000	3.710000	0.425840	.	.	.	.	.	.	.	.	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.108300	0.538250	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GDI1	153318840	1	0.714170	9.820000e-01	0.441460	2.360000e-01	0.253710	8.579000	0.907810	1.690000	0.510890	0.284000	0.194320	.		TCGA-HV-AA8X-01A-11D-A397-08	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	0	0	0	4	149	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	0.888297	2	149	0	28	2		0	0	0	0	0	2	-6.268873	1	0	0	0		1	0	1	1			0.630000	1.930000	0.630000	0.090000	2.000000e-02	0.200000	0.080000	0.101985	0.090000	0	0.050000	0.140000
BRWD3	254065	broad.mit.edu	37	X	79985487	79985487	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8X-01A-11D-A397-08	TCGA-HV-AA8X-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7182fcdb-756e-4594-b1db-a47c8efe035e	37f4dcba-087f-4744-994d-8921693c6c9e	g.chrX:79985487G>A	ENST00000373275.4	-	13	1376	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					AATTCTTGCCGTTCCATCTCG	0.299000																								0							SO:0001583	missense			ENST00000373275.4	0	1	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	22.000000	4.237206	0.798000	.	.	ENSG00000165288	ENST00000373275	T	0.69561	-0.41	4.370000	4.370000	0.524810	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.83953	2.67	0.584320	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85220	0.1026	9	.	.	.	-2.364	16.382600	0.834730	0.0:0.0:1.0:0.0	.	387	Q6RI45	BRWD3_HUMAN	M	387	ENSP00000362372:T387M	.	T	-	2	0	BRWD3	79872143	1	0.714170	1	0.803570	9.130000e-01	0.542940	7.207000	0.778990	2.035000	0.601310	0.513000	0.501650	ACG		TCGA-HV-AA8X-01A-11D-A397-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	0	0	5	174	0	29	0	1.274968e-03	0	2	0	29	2		0	0	0	0	0	2	1	0.937510	5	173	0	29	2		0	0	0	0	0	2	-2.940823	1	1	0	0		1	0	1	1			0.630000	1.930000	0.630000	0.090000	3.000000e-02	0.190000	0.090000	0.104876	0.090000	0	0.050000	0.140000
