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
DNMBP	23268	broad.mit.edu	37	10	101716827	101716827	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:101716827G>T	ENST00000324109.4	-	4	495	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.S135Y	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein			61		Colorectal(252;0.234)			GGCGCTCTGGGAGTGCCACTG	0.617000																								0							SO:0001583	missense			ENST00000324109.4	1	1	hg19	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785820	0.70337	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.13778	2.61;2.56	5.47	5.47	0.80525	Src homology-3 domain (2);	0.160351	0.29791	N	0.011192	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	P	0.49559	0.925	P	0.47206	0.541	T	0.01212	-1.1417	10	0.66056	D	0.02	-8.7178	15.2145	0.73254	0.0:0.1401:0.8598:0.0	.	135	Q6XZF7	DNMBP_HUMAN	Y	135	ENSP00000344914:S135Y;ENSP00000315659:S135Y	ENSP00000315659:S135Y	S	-	2	0	DNMBP	101706817	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	4.044000	0.57361	2.724000	0.93272	0.561000	0.74099	TCC		TCGA-IB-7890-01A-12D-2201-08	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	1	0	1	20	159	0	54	1	4.104331e-01	4	8	0	54	2		0	0	0	0	0	2	1	0.999995	18	155	0	53	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	1	3	4	2.127873	1	0.360000	2.800000	0.468968	0.820000	0.490000	1.000000	1.000000	0.820667	0.820000	0	0.630000	1.000000
ANKRD30A	91074	broad.mit.edu	37	10	37430910	37430910	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:37430910C>T	ENST00000602533.1	+	7	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T306M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T306M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A			158					AGGGAAATTACGAGTCCTGCA	0.433000																								0							SO:0001583	missense			ENST00000602533.1	1	0	hg19		.	.	.	.	.	.	.	.	.	.	.	14.40	2.523711	0.44866	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05382	3.45;3.45	0.5	0.5	0.16919	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	B	0.25351	0.124	B	0.10450	0.005	T	0.45366	-0.9266	8	0.33940	T	0.23	.	.	.	.	.	362	Q9BXX3	AN30A_HUMAN	M	306	ENSP00000354432:T306M;ENSP00000363792:T306M	ENSP00000354432:T306M	T	+	2	0	ANKRD30A	37470916	0.012000	0.17670	0.007000	0.13788	0.009000	0.06853	-0.326000	0.07965	0.525000	0.28522	0.134000	0.15878	ACG		TCGA-IB-7890-01A-12D-2201-08	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1	67	291	2	105		0	0	0	2	105	2		0	0	0	0	0	2	1	1.000000	62	289	0	104	2		0	0	0	2	105	2	-2.144294	0	1	0	0		1	0	2	2	1.780639	1	0.360000	2.800000	0.360000	0.990000	0.820000	1.000000	1.000000	0.973685	0.990000	1	0.920000	1.000000
C10orf62	414157	broad.mit.edu	37	10	99350210	99350210	+	Silent	SNP	C	C	A	rs145450971	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr10:99350210C>A	ENST00000370640.3	+	1	761	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370646.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62			4		Colorectal(252;0.162)			CCTCACCCAGCGGGAAAACAC	0.567000																								0							SO:0001819	synonymous_variant			ENST00000370640.3	1	1	hg19	CCDS31261.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	1	0	1	85	529	1	148		0	0	0	1	148	2		0	0	0	0	0	2	1	1.000000	84	520	1	147	15		0	0	0	1	148	2	-7.194516	1	1	121412	82	53	1	1	3	4	2.127873	1	0.360000	2.800000	0.468968	0.960000	0.760000	1.000000	1.000000	0.938489	0.960000	1	0.850000	1.000000
SIK3	23387	broad.mit.edu	37	11	116729339	116729339	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:116729339G>A	ENST00000292055.4	-	20	2559	c.2524C>T	c.(2524-2526)Cgg>Tgg	p.R842W	SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.R900W|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3			57					GGGGAACCCCGGGACTGGTCC	0.567000																								0							SO:0001583	missense			ENST00000292055.4	1	1	hg19	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.240336|4.240336	0.79912|0.79912	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177|ENST00000375300;ENST00000292055	.|T;T	.|0.73363	.|-0.7;-0.74	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.38217	.|U	.|0.001766	T|T	0.71492|0.71492	0.3346|0.3346	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.99	.|P;B	.|0.50049	.|0.629;0.306	T|T	0.75379|0.75379	-0.3338|-0.3338	5|10	.|0.87932	.|D	.|0	.|.	14.5942|14.5942	0.68392|0.68392	0.0:0.0:0.8541:0.1459|0.0:0.0:0.8541:0.1459	.|.	.|842;842	.|Q9Y2K2-3;Q9Y2K2	.|.;SIK3_HUMAN	L|W	941|900;842	.|ENSP00000364449:R900W;ENSP00000292055:R842W	.|ENSP00000292055:R842W	P|R	-|-	2|1	0|2	SIK3|SIK3	116234549|116234549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.705000|6.705000	0.74644|0.74644	2.654000|2.654000	0.90174|0.90174	0.655000|0.655000	0.94253|0.94253	CCG|CGG		TCGA-IB-7890-01A-12D-2201-08	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1	100	606	0	168	1	7.160760e-01	5	12	0	168	2		0	0	0	0	0	2	1	1.000000	98	588	0	166	2		0	0	0	0	168	2	-2.744776	1	1	121400	1	33	1	0	3	3	2.101542	1	0.360000	2.800000	0.457627	0.920000	0.760000	1.000000	1.000000	0.922059	0.920000	1	0.840000	1.000000
ESAM	90952	broad.mit.edu	37	11	124623837	124623837	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:124623837C>T	ENST00000278927.5	-	7	1007	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	ESAM_ENST00000442070.2_Intron|VSIG2_ENST00000403470.1_5'Flank|VSIG2_ENST00000326621.5_5'Flank	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule			16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)			GGGCAGGGTCCGGGGAGCAAT	0.567000																								0							SO:0001583	missense			ENST00000278927.5	1	1	hg19	CCDS8453.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074636	0.76415	.	.	ENSG00000149564	ENST00000278927	T	0.31510	1.49	5.28	3.37	0.38596	.	0.354761	0.28730	N	0.014326	T	0.36936	0.0985	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	T	0.08330	-1.0727	10	0.21014	T	0.42	.	7.9712	0.30127	0.0:0.6063:0.3104:0.0832	.	293	Q96AP7	ESAM_HUMAN	Q	293	ENSP00000278927:R293Q	ENSP00000278927:R293Q	R	-	2	0	ESAM	124129047	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	1.757000	0.38400	0.683000	0.31428	-0.176000	0.13171	CGG		TCGA-IB-7890-01A-12D-2201-08	ESAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324686.1	1	0	1	39	105	0	40	1	1	7	157	0	40	2		0	0	0	0	0	2	1	1.000000	37	102	0	40	2		0	0	0	0	40	2	-4.781374	1	1	121408	3	34	1	0	3	3	2.101542	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	0.999995	0.990000	1	0.990000	1.000000
OR52K2	119774	broad.mit.edu	37	11	4471098	4471098	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:4471098G>A	ENST00000325719.4	+	1	574	c.529G>A	c.(529-531)Gct>Act	p.A177T		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2			25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)			CCCAGTGATCGCTCACTGCTA	0.547000																								0							SO:0001583	missense			ENST00000325719.4	1	1	hg19	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828372	0.50845	.	.	ENSG00000181963	ENST00000325719	T	0.00107	8.72	4.0	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.154049	0.30085	N	0.010452	T	0.00178	0.0005	L	0.41415	1.275	0.09310	N	1	D	0.53151	0.958	P	0.52343	0.696	T	0.50250	-0.8850	10	0.72032	D	0.01	.	5.1676	0.15094	0.1064:0.0:0.5869:0.3067	.	177	Q8NGK3	O52K2_HUMAN	T	177	ENSP00000318956:A177T	ENSP00000318956:A177T	A	+	1	0	OR52K2	4427674	0.000000	0.05858	0.994000	0.49952	0.921000	0.55340	-0.481000	0.06552	2.054000	0.61138	0.485000	0.47835	GCT		TCGA-IB-7890-01A-12D-2201-08	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	0	0	1	101	528	1	149		0	0	0	1	149	2		0	0	0	0	0	2	1	1.000000	101	518	1	147	15		0	0	0	1	149	2	-20.000000	1	1	0	0		1	1	2	3	2.073852	1	0.360000	2.800000	0.457627	0.990000	0.860000	1.000000	1.000000	0.984129	0.990000	1	0.950000	1.000000
RTN3	10313	broad.mit.edu	37	11	63472339	63472339	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:63472339C>T	ENST00000377819.5	+	2	313	c.159C>T	c.(157-159)tcC>tcT	p.S53S	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000538995.1_Intron|RTN3_ENST00000540798.1_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Silent_p.S53S|RTN3_ENST00000339997.4_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3			20					TTGTTTCTTCCTCTTCCTCTC	0.363000																								0							SO:0001819	synonymous_variant			ENST00000377819.5	1	1	hg19	CCDS58141.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1	127	385	0	92	0	6.237770e-02	0	2	0	92	2		0	0	0	0	0	2	1	1.000000	114	361	0	87	2		0	0	0	0	92	2	-20.000000	1	1	120790	1	30	1	1	2	3	2.073852	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
TMEM151A	256472	broad.mit.edu	37	11	66062807	66062807	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:66062807G>A	ENST00000327259.4	+	2	1234	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A			11					CTCGGAGGCCGTGGTCATGGG	0.731000																								0							SO:0001583	missense			ENST00000327259.4	0	1	hg19	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	7.944	0.743434	0.15642	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.14	2.04	0.26737	.	0.189097	0.36167	N	0.002755	T	0.14570	0.0352	N	0.10916	0.065	0.29651	N	0.843971	B	0.21905	0.062	B	0.14023	0.01	T	0.12553	-1.0543	9	0.17369	T	0.5	.	4.6644	0.12659	0.1644:0.0:0.6246:0.211	.	364	Q8N4L1	T151A_HUMAN	M	364	.	ENSP00000326244:V364M	V	+	1	0	TMEM151A	65819383	0.997000	0.39634	0.962000	0.40283	0.992000	0.81027	2.403000	0.44530	0.944000	0.37579	0.462000	0.41574	GTG		TCGA-IB-7890-01A-12D-2201-08	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	0	0	0	4	32	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.887472	4	31	0	10	2		0	0	0	0	10	2	-9.808765	1	1	0	0		1	1	2	3	2.073852	1	0.360000	2.800000	0.457627	0.780000	0.280000	1.000000	1.000000	0.759273	0.780000	0	0.490000	1.000000
EED	8726	broad.mit.edu	37	11	85967469	85967469	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr11:85967469G>C	ENST00000263360.6	+	5	1153	c.467G>C	c.(466-468)aGc>aCc	p.S156T	EED_ENST00000528180.1_Missense_Mutation_p.S156T|EED_ENST00000327320.4_Missense_Mutation_p.S156T|EED_ENST00000351625.6_Missense_Mutation_p.S156T	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development			21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)			ACCTATGATAGCAATACGAGC	0.353000																								0							SO:0001583	missense			ENST00000263360.6	1	1	hg19	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582457	0.28180	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.087878	0.85682	D	0.000000	T	0.15825	0.0381	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.15235	-1.0444	9	.	.	.	-11.6578	19.5799	0.95461	0.0:0.0:1.0:0.0	.	156;156;156;156	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	T	156	ENSP00000263360:S156T;ENSP00000431778:S156T;ENSP00000338186:S156T;ENSP00000315587:S156T	.	S	+	2	0	EED	85645117	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.041000	0.70988	2.606000	0.88127	0.585000	0.79938	AGC		TCGA-IB-7890-01A-12D-2201-08	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	1	0	1	45	288	0	37	1	9.958223e-01	15	41	0	37	2		0	0	0	0	0	2	1	1.000000	43	279	0	37	2		0	0	0	0	37	2	-19.685700	1	1	0	0		1	0	3	3	2.101542	1	0.360000	2.800000	0.457627	0.880000	0.660000	1.000000	1.000000	0.882042	0.880000	1	0.760000	1.000000
GIT2	9815	broad.mit.edu	37	12	110390957	110390957	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:110390957G>A	ENST00000355312.3	-	13	1181	c.1182C>T	c.(1180-1182)agC>agT	p.S394S	GIT2_ENST00000551209.1_Silent_p.S393S|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000356259.4_Silent_p.S394S|GIT2_ENST00000338373.5_Silent_p.S394S|GIT2_ENST00000360185.4_Silent_p.S394S|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000354574.4_Silent_p.S396S|GIT2_ENST00000553118.1_Silent_p.S394S|GIT2_ENST00000547815.1_Silent_p.S394S|GIT2_ENST00000320063.9_Silent_p.S394S|GIT2_ENST00000361006.5_Silent_p.S394S|GIT2_ENST00000457474.2_Silent_p.S396S	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2			27					CTGATGCCACGCTGTCATAGT	0.488000																								0							SO:0001819	synonymous_variant			ENST00000355312.3	0	1	hg19	CCDS9138.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	0	0	0	8	376	0	74	0	3.460154e-01	0	53	0	74	2		0	0	0	0	0	2	1	0.989317	8	374	0	74	2		0	0	0	0	74	2	-3.105365	1	1	121412	5	38	1	0	3	3	1.882622	1	0.360000	2.800000	0.434329	0.150000	0.060000	1.000000	0.130000	0.307514	0.150000	0	0.090000	1.000000
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:25380276T>C	ENST00000256078.4	-	3	245	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.Q61L(73)|p.Q61R(56)|p.Q61P(12)	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)		GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_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	141	Substitution - Missense(141)						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	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022613	0.75275	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.83673	-1.75;-1.75	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.88358	0.6415	M	0.92367	3.3	0.80722	D	1	B;B	0.26744	0.158;0.026	B;B	0.32805	0.135;0.153	D	0.87885	0.2680	10	0.66056	D	0.02	.	15.5753	0.76373	0.0:0.0:0.0:1.0	.	61;61	P01116-2;P01116	.;RASK_HUMAN	R	61	ENSP00000308495:Q61R;ENSP00000256078:Q61R	ENSP00000256078:Q61R	Q	-	2	0	KRAS	25271543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.983000	0.88140	2.326000	0.78906	0.533000	0.62120	CAA		TCGA-IB-7890-01A-12D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	131	305	0	53	1	1	13	56	0	53	2	1	1	238	705	0	889	2	1	1.000000	130	300	0	53	2	1	1	2290	5741	0	53	2	-20.000000	1	1	0	0		1	3	4	7	2.408262	1	0.360000	2.800000	0.535559	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PUS7L	83448	broad.mit.edu	37	12	44142334	44142334	+	Missense_Mutation	SNP	G	G	A	rs143739935	byFrequency	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:44142334G>A	ENST00000416848.2	-	3	1477	c.989C>T	c.(988-990)tCg>tTg	p.S330L	PUS7L_ENST00000553166.1_Missense_Mutation_p.S330L|PUS7L_ENST00000551923.1_Missense_Mutation_p.S330L|PUS7L_ENST00000431332.3_Missense_Mutation_p.S17L|PUS7L_ENST00000344862.5_Missense_Mutation_p.S330L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like			32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)			ACTAAAATCCGAAGGAATAAC	0.348000																								0							SO:0001583	missense			ENST00000416848.2	1	0	hg19	CCDS8743.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	25.6	4.658329	0.88154	0.0	0.002326	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332;ENST00000550784;ENST00000547156;ENST00000553166	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.86	4.86	0.63082	Pseudouridine synthase, catalytic domain (1);	0.135257	0.52532	D	0.000074	T	0.66858	0.2832	M	0.79693	2.465	0.58432	D	0.999999	D	0.89917	1.0	D	0.69142	0.962	T	0.70051	-0.4978	10	0.52906	T	0.07	-1.7808	18.8708	0.92313	0.0:0.0:1.0:0.0	.	330	Q9H0K6	PUS7L_HUMAN	L	330;330;330;17;17;17;330	ENSP00000415899:S330L;ENSP00000343081:S330L;ENSP00000447706:S330L;ENSP00000398497:S17L;ENSP00000449222:S17L;ENSP00000450341:S17L;ENSP00000446865:S330L	ENSP00000343081:S330L	S	-	2	0	PUS7L	42428601	1.000000	0.71417	0.980000	0.43619	0.983000	0.72400	7.429000	0.80309	2.612000	0.88384	0.563000	0.77884	TCG		TCGA-IB-7890-01A-12D-2201-08	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	0	0	1	163	281	0	101	0	7.930302e-01	1	6	0	101	2		0	0	0	0	0	2	1	1.000000	162	278	0	101	2		0	0	0	0	101	2	-2.578431	1	1	121406	215	56	1	0	3	3	1.882622	1	0.360000	2.800000	0.434329	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
NTF3	4908	broad.mit.edu	37	12	5603687	5603687	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:5603687C>T	ENST00000331010.6	+	1	390	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000423158.3_Missense_Mutation_p.R116W	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3			22					CAACTCACCGCGGGTCCTGCT	0.642000													GBM(194;1104 2182 8339 9578 18493)											0							SO:0001583	missense			ENST00000331010.6	1	1	hg19	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403819	0.62288	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.48201	0.82;0.82	5.52	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.89904	3.07	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.77156	-0.2691	10	0.72032	D	0.01	-12.4294	12.7492	0.57298	0.4323:0.5677:0.0:0.0	.	103;116	P20783;B7Z1T5	NTF3_HUMAN;.	W	116;103	ENSP00000397297:R116W;ENSP00000328738:R103W	ENSP00000328738:R103W	R	+	1	2	NTF3	5473948	0.915000	0.31059	1.000000	0.80357	0.992000	0.81027	1.904000	0.39868	0.660000	0.30964	0.591000	0.81541	CGG		TCGA-IB-7890-01A-12D-2201-08	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1	1	0	1	56	363	0	102	0	3.987962e-01	0	10	0	102	2		0	0	0	0	0	2	1	1.000000	54	359	0	100	2		0	0	0	0	102	2	-20.000000	1	1	0	0		1	2	6	8	2.212491	1	0.360000	2.800000	0.496063	0.970000	0.730000	1.000000	1.000000	0.938563	0.970000	1	0.840000	1.000000
LPCAT3	10162	broad.mit.edu	37	12	7091020	7091020	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr12:7091020C>A	ENST00000261407.4	-	4	497	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_5'Flank	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3			17					CACTTGATATCGTAGTTGCCG	0.473000																								0							SO:0001583	missense			ENST00000261407.4	0	1	hg19	CCDS8572.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700633	0.30142	.	.	ENSG00000111684	ENST00000261407	T	0.73897	-0.79	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87121	0.2191	10	0.56958	D	0.05	-20.8345	19.1925	0.93672	0.0:1.0:0.0:0.0	.	138	Q6P1A2	MBOA5_HUMAN	Y	138	ENSP00000261407:D138Y	ENSP00000261407:D138Y	D	-	1	0	LPCAT3	6961281	1.000000	0.71417	0.998000	0.56505	0.895000	0.52256	7.320000	0.79064	2.767000	0.95098	0.655000	0.94253	GAT		TCGA-IB-7890-01A-12D-2201-08	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	0	0	0	10	405	1	68	0	1.882812e-02	4	86	1	68	7		0	0	0	0	0	2	0	0.041894	10	399	1	66	20		0	0	0	1	68	2	-3.304375	1	1	0	0		1	2	6	8	2.212491	1	0.360000	2.800000	0.496063	0.190000	0.080000	1.000000	0.170000	0.331733	0.190000	0	0.130000	1.000000
TMTC4	84899	broad.mit.edu	37	13	101289837	101289837	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:101289837G>A	ENST00000376234.3	-	8	1086	c.897C>T	c.(895-897)acC>acT	p.T299T	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.T188T|TMTC4_ENST00000342624.5_Silent_p.T318T	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4			34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				TGTCCACCTCGGTGAAGGCCG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000376234.3	1	1	hg19	CCDS41904.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	1	0	1	167	371	0	137	1	9.584764e-01	2	12	0	137	2		0	0	0	0	0	2	1	1.000000	164	364	0	135	2		0	0	0	0	137	2	-12.041230	1	1	121410	5	39	1	1	2	3	2.045309	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
LCP1	3936	broad.mit.edu	37	13	46701838	46701838	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr13:46701838C>T	ENST00000398576.2	-	19	2160	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q	LCP1_ENST00000435666.2_Missense_Mutation_p.R160Q|LCP1_ENST00000323076.2_Missense_Mutation_p.R591Q			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)			34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		TCCAATTTTTCGGGCCATAGA	0.488000			T	BCL6	NHL										Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0							SO:0001583	missense			ENST00000398576.2	1	1	hg19	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	36	5.769574	0.96914	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.94650	-3.48;-3.48;-3.48	5.54	5.54	0.83059	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97823	0.9285	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.98204	1.0469	10	0.66056	D	0.02	-8.2981	18.8301	0.92135	0.0:1.0:0.0:0.0	.	160;591	B4DUA0;P13796	.;PLSL_HUMAN	Q	591;591;160	ENSP00000315757:R591Q;ENSP00000381581:R591Q;ENSP00000405134:R160Q	ENSP00000315757:R591Q	R	-	2	0	LCP1	45599839	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.776000	0.85560	2.764000	0.94973	0.655000	0.94253	CGA		TCGA-IB-7890-01A-12D-2201-08	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	1	0	1	93	610	0	147	0	9.999994e-01	0	132	0	147	2		0	0	0	0	0	2	1	1.000000	93	588	0	147	2		0	0	0	0	147	2	-3.142703	1	1	0	0		1	1	2	3	2.045309	1	0.360000	2.800000	0.457627	0.860000	0.700000	1.000000	1.000000	0.869744	0.860000	1	0.780000	0.950000
SLC8A3	6547	broad.mit.edu	37	14	70634760	70634760	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:70634760C>T	ENST00000381269.2	-	2	1133	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	SLC8A3_ENST00000356921.2_Missense_Mutation_p.R127Q|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R127Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R127Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R127Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3			54					ATTCCAGACCCGAATAGTGGT	0.483000																								0							SO:0001583	missense			ENST00000381269.2	1	1	hg19	CCDS35498.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.9	4.070178	0.76301	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.48	5.48	0.80851	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.84243	0.5429	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.997;0.998;0.993;0.993	D	0.87094	0.2174	10	0.62326	D	0.03	.	19.3613	0.94440	0.0:1.0:0.0:0.0	.	127;127;127;127	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Q	127	ENSP00000349392:R127Q;ENSP00000370669:R127Q;ENSP00000350560:R127Q;ENSP00000436688:R127Q;ENSP00000433531:R127Q	ENSP00000349392:R127Q	R	-	2	0	SLC8A3	69704513	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.811000	0.86092	2.573000	0.86826	0.650000	0.86243	CGG		TCGA-IB-7890-01A-12D-2201-08	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1	1	0	1	48	297	0	85	0	9.933579e-02	0	4	0	85	2		0	0	0	0	0	2	1	1.000000	46	292	0	85	2		0	0	0	0	85	2	-2.599474	1	1	121412	1	38	1	1	2	3	2.059402	1	0.360000	2.800000	0.457627	0.910000	0.690000	1.000000	1.000000	0.902066	0.910000	1	0.790000	1.000000
SERPINA3	12	broad.mit.edu	37	14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr14:95080911G>A	ENST00000467132.1	+	2	1281	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V45M|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V45M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	p.V45M(1)		40		all_cancers(154;0.0525)|all_epithelial(191;0.179)			AGGGACACACGTGGACCTCGG	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000467132.1	1	1	hg19	CCDS32150.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404725	0.42613	.	.	ENSG00000196136	ENST00000553947;ENST00000393078;ENST00000393080;ENST00000555820;ENST00000467132;ENST00000380354	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.68	-0.036	0.13890	Serpin domain (1);	1.940150	0.03623	U	0.236685	T	0.81418	0.4818	N	0.19112	0.55	0.09310	N	1	D;P	0.53885	0.963;0.661	B;B	0.43809	0.432;0.154	T	0.72527	-0.4266	10	0.72032	D	0.01	.	10.9606	0.47383	0.0825:0.5309:0.3866:0.0	.	45;70	P01011;G3V5I3	AACT_HUMAN;.	M	70;45;45;45;45;45	ENSP00000452367:V70M;ENSP00000376793:V45M;ENSP00000376795:V45M;ENSP00000450540:V45M	ENSP00000369712:V45M	V	+	1	0	SERPINA3	94150664	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.456000	0.06754	0.073000	0.16731	0.561000	0.74099	GTG		TCGA-IB-7890-01A-12D-2201-08	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	1	0	1	118	632	0	193	1	9.998222e-01	19	49	0	193	2		0	0	0	0	0	2	1	1.000000	115	617	0	192	2		0	0	0	0	193	2	-20.000000	1	1	121412	5	39	1	1	2	3	2.059402	1	0.360000	2.800000	0.457627	0.990000	0.860000	1.000000	1.000000	0.980263	0.990000	1	0.940000	1.000000
EPB42	2038	broad.mit.edu	37	15	43499591	43499591	+	Missense_Mutation	SNP	G	G	A	rs115972761	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:43499591G>A	ENST00000441366.2	-	9	1349	c.1124C>T	c.(1123-1125)aCg>aTg	p.T375M	EPB42_ENST00000540029.1_Missense_Mutation_p.T297M|EPB42_ENST00000563128.1_5'Flank|EPB42_ENST00000300215.3_Missense_Mutation_p.T405M	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2			20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)			CAGCCCCAGCGTCCCCTCCTT	0.582000																								0							SO:0001583	missense			ENST00000441366.2	1	1	hg19	CCDS45249.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.005	0.555666	0.13436	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366	T;T;T	0.51071	0.72;0.72;0.72	6.02	-12.0	0.00017	.	1.311570	0.04307	N	0.348294	T	0.28333	0.0700	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.27823	0.029;0.068;0.19;0.068	B;B;B;B	0.16289	0.005;0.006;0.015;0.006	T	0.08330	-1.0727	10	0.38643	T	0.18	4.7421	1.2729	0.02025	0.4301:0.1641:0.1298:0.276	.	297;375;405;375	F5H563;B7Z4C3;P16452-2;P16452	.;.;.;EPB42_HUMAN	M	405;297;375	ENSP00000300215:T405M;ENSP00000444699:T297M;ENSP00000396616:T375M	ENSP00000300215:T405M	T	-	2	0	EPB42	41286883	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.186000	0.03070	-2.622000	0.00439	-0.769000	0.03391	ACG		TCGA-IB-7890-01A-12D-2201-08	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	1	0	1	47	165	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1.000000	46	159	0	62	2		0	0	0	0	63	2	-20.000000	1	1	121412	18	43	1	0	2	2	1.793594	1	0.360000	2.800000	0.360000	0.990000	0.930000	1.000000	1.000000	0.996392	0.990000	1	0.990000	1.000000
CORO2B	10391	broad.mit.edu	37	15	68937512	68937512	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:68937512C>T	ENST00000566799.1	+	2	58	c.29C>T	c.(28-30)cCg>cTg	p.P10L	CORO2B_ENST00000543950.1_Missense_Mutation_p.P5L|CORO2B_ENST00000261861.5_Missense_Mutation_p.P5L|CORO2B_ENST00000540068.1_Missense_Mutation_p.P5L			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B			36					TCCTGGCGTCCGCAATACCGT	0.622000																								0							SO:0001583	missense			ENST00000566799.1	1	1	hg19	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518852	0.85495	0.0	1.16E-4	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.56941	0.43;0.43	4.38	4.38	0.52667	.	0.053861	0.85682	D	0.000000	T	0.66147	0.2760	M	0.66939	2.045	0.80722	D	1	P	0.52170	0.951	P	0.57371	0.819	T	0.69394	-0.5157	10	0.51188	T	0.08	-21.1529	15.8812	0.79207	0.0:1.0:0.0:0.0	.	10	Q9UQ03	COR2B_HUMAN	L	10;5;5	ENSP00000446250:P5L;ENSP00000443819:P5L	ENSP00000261861:P10L	P	+	2	0	CORO2B	66724566	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.565000	0.82337	2.142000	0.66516	0.563000	0.77884	CCG		TCGA-IB-7890-01A-12D-2201-08	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	19	103	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	0.999992	19	98	0	59	2		0	0	0	0	60	2	-20.000000	1	1	121412	5	36	1	0	2	2	1.793594	1	0.360000	2.800000	0.360000	0.860000	0.550000	1.000000	1.000000	0.853216	0.860000	1	0.690000	1.000000
CELF6	60677	broad.mit.edu	37	15	72579635	72579635	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:72579635G>A	ENST00000569547.1	-	12	1488	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	CELF6_ENST00000569311.1_5'Flank|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.R360W|CELF6_ENST00000567083.1_Missense_Mutation_p.R446W|CELF6_ENST00000539635.1_Missense_Mutation_p.R334W|CELF6_ENST00000287202.5_Missense_Mutation_p.R473W|CELF6_ENST00000543764.2_Missense_Mutation_p.R336W			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6			13					TCCTTGGGCCGCTTTAGCTGG	0.517000																								0							SO:0001583	missense			ENST00000569547.1	1	1	hg19	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234720	0.58886	.	.	ENSG00000140488	ENST00000287202;ENST00000437872;ENST00000543764;ENST00000379915;ENST00000395258;ENST00000539635	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	5.79	-1.42	0.08913	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	U	0.000006	T	0.23492	0.0568	M	0.77103	2.36	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.91635	0.998;0.993;0.985;0.967;0.999	T	0.27226	-1.0080	10	0.87932	D	0	-14.4833	16.9829	0.86333	0.0:0.0:0.6119:0.3881	.	446;336;360;334;473	B4DJB6;B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;.;CELF6_HUMAN	W	473;446;336;297;360;334	ENSP00000287202:R473W;ENSP00000439956:R336W;ENSP00000378677:R360W;ENSP00000443162:R334W	ENSP00000287202:R473W	R	-	1	2	CELF6	70366689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.311000	0.33562	0.107000	0.17824	0.561000	0.74099	CGG		TCGA-IB-7890-01A-12D-2201-08	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	1	0	1	75	303	0	112	0	1.816005e-01	0	4	0	112	2		0	0	0	0	0	2	1	1.000000	75	295	0	110	2		0	0	0	0	112	2	-3.611022	1	1	0	0		1	0	2	2	1.793594	1	0.360000	2.800000	0.360000	0.990000	0.880000	1.000000	1.000000	0.989997	0.990000	1	0.980000	1.000000
TMC3	342125	broad.mit.edu	37	15	81654605	81654605	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:81654605A>G	ENST00000359440.5	-	4	485	c.350T>C	c.(349-351)gTg>gCg	p.V117A	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.V117A|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3			34					GAAGATGACCACAAAGTTACA	0.478000																								0							SO:0001583	missense			ENST00000359440.5	0	1	hg19	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.409904	0.25465	.	.	ENSG00000188869	ENST00000359440	T	0.63580	-0.05	5.26	4.15	0.48705	.	0.183784	0.34268	N	0.004111	T	0.40448	0.1117	N	0.16743	0.435	0.30774	N	0.742708	B;B	0.14012	0.0;0.009	B;B	0.12156	0.002;0.007	T	0.33445	-0.9868	10	0.15066	T	0.55	-11.5679	7.9842	0.30202	0.8433:0.0:0.1567:0.0	.	117;117	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	A	117	ENSP00000352413:V117A	ENSP00000352413:V117A	V	-	2	0	TMC3	79441660	0.967000	0.33354	0.990000	0.47175	0.990000	0.78478	3.776000	0.55356	0.856000	0.35383	0.455000	0.32223	GTG		TCGA-IB-7890-01A-12D-2201-08	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	1	0	0	6	118	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	0.960559	6	112	0	22	2		0	0	0	0	22	2	-9.698396	1	1	0	0		1	0	2	2	1.793594	1	0.360000	2.800000	0.360000	0.280000	0.110000	0.530000	0.260000	0.304238	0.280000	0	0.180000	0.410000
FURIN	5045	broad.mit.edu	37	15	91419516	91419516	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:91419516G>A	ENST00000268171.3	+	3	488	c.209G>A	c.(208-210)cGa>cAa	p.R70Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)			36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)		TTCTGGCATCGAGGAGTGACG	0.657000																								0							SO:0001583	missense			ENST00000268171.3	1	1	hg19	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441351	0.63067	.	.	ENSG00000140564	ENST00000268171	T	0.31510	1.49	4.58	4.58	0.56647	Proteinase inhibitor, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.69248	2.105	0.58432	D	0.999998	D	0.59767	0.986	P	0.48738	0.588	T	0.45629	-0.9248	10	0.59425	D	0.04	-2.4622	15.8038	0.78477	0.0:0.0:1.0:0.0	.	70	P09958	FURIN_HUMAN	Q	70	ENSP00000268171:R70Q	ENSP00000268171:R70Q	R	+	2	0	FURIN	89220520	0.978000	0.34361	0.999000	0.59377	0.083000	0.17756	2.778000	0.47726	2.396000	0.81511	0.555000	0.69702	CGA		TCGA-IB-7890-01A-12D-2201-08	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	1	0	1	102	545	0	235	1	1	43	159	0	235	2		0	0	0	0	0	2	1	1.000000	100	532	0	234	2		0	0	0	0	235	2	-3.144086	1	1	0	0		1	0	2	2	1.793594	1	0.360000	2.800000	0.360000	0.870000	0.720000	1.000000	1.000000	0.876650	0.870000	1	0.790000	0.960000
RGMA	56963	broad.mit.edu	37	15	93588562	93588562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr15:93588562C>T	ENST00000329082.7	-	4	1290	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	RGMA_ENST00000425933.2_Missense_Mutation_p.R324H|RGMA_ENST00000542321.2_Missense_Mutation_p.R324H|RGMA_ENST00000557301.1_Missense_Mutation_p.R348H|RGMA_ENST00000556658.1_Missense_Mutation_p.R231H|RGMA_ENST00000538818.1_Missense_Mutation_p.R231H|RGMA_ENST00000543599.1_Missense_Mutation_p.R324H|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a			9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		TGCCAGCCTGCGGGCACCGGT	0.672000																								0							SO:0001583	missense			ENST00000329082.7	1	1	hg19	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464028	0.26335	0.0	6.01E-4	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.82;-2.83;-2.44;-2.83	4.4	-0.978	0.10279	Repulsive guidance molecule, C-terminal (1);	0.646923	0.14204	N	0.334497	T	0.81138	0.4760	N	0.14661	0.345	0.09310	N	1	D;P	0.53151	0.958;0.952	P;P	0.49597	0.616;0.564	T	0.74038	-0.3793	10	0.11794	T	0.64	-24.0079	5.3558	0.16059	0.0:0.4763:0.1344:0.3894	.	348;340	G3V518;Q96B86	.;RGMA_HUMAN	H	324;324;340;324;231;348	ENSP00000442498:R324H;ENSP00000404442:R324H;ENSP00000330005:R340H;ENSP00000440025:R324H;ENSP00000442546:R231H;ENSP00000452126:R348H	ENSP00000330005:R340H	R	-	2	0	RGMA	91389566	0.004000	0.15560	0.003000	0.11579	0.011000	0.07611	0.075000	0.14686	-0.582000	0.05929	-0.658000	0.03865	CGC		TCGA-IB-7890-01A-12D-2201-08	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	1	0	1	36	44	0	39	0	9.286910e-01	0	8	0	39	2		0	0	0	0	0	2	1	1.000000	33	44	0	38	2		0	0	0	0	39	2	-3.221883	1	1	120770	43	45	1	0	2	2	1.793594	1	0.360000	2.800000	0.360000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
BFAR	51283	broad.mit.edu	37	16	14749057	14749057	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:14749057G>C	ENST00000261658.2	+	5	1050	c.773G>C	c.(772-774)tGg>tCg	p.W258S	BFAR_ENST00000563971.1_Missense_Mutation_p.W133S|BFAR_ENST00000426842.2_Missense_Mutation_p.W130S	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator			11					CAGAATCTCTGGGAATATAAG	0.333000																								0							SO:0001583	missense			ENST00000261658.2	1	1	hg19	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412066	0.62511	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.56776	2.77;0.44	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.997	T	0.67409	-0.5678	10	0.87932	D	0	.	16.9649	0.86283	0.0:0.0:1.0:0.0	.	130;258;258	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	S	258;130	ENSP00000261658:W258S;ENSP00000400634:W130S	ENSP00000261658:W258S	W	+	2	0	BFAR	14656558	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.561000	0.98142	2.239000	0.73571	0.313000	0.20887	TGG		TCGA-IB-7890-01A-12D-2201-08	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	1	0	0	127	337	0	111	1	1	131	99	0	111	2		0	0	0	0	0	2	1	1.000000	124	326	0	108	2		0	0	0	0	111	2	-7.039860	1	1	0	0		1	2	2	4	2.345296	1	0.360000	2.800000	0.523100	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:347159C>T	ENST00000262320.3	-	7	2223	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E618K|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1			221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)			CCTGGCACCTCGGTGCTGGCG	0.612000																								0							SO:0001583	missense			ENST00000262320.3	1	1	hg19	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676683	0.47886	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.60672	0.17;0.18	4.98	4.02	0.46733	.	0.156231	0.56097	D	0.000026	T	0.45935	0.1367	M	0.61703	1.905	0.41038	D	0.985201	P;P	0.45715	0.865;0.494	B;B	0.28305	0.088;0.029	T	0.47873	-0.9083	10	0.25106	T	0.35	-1.1885	13.1589	0.59533	0.0:0.9217:0.0:0.0782	.	618;618	O15169-2;O15169	.;AXIN1_HUMAN	K	618	ENSP00000262320:E618K;ENSP00000346935:E618K	ENSP00000262320:E618K	E	-	1	0	AXIN1	287160	0.510000	0.26171	0.287000	0.24848	0.008000	0.06430	1.583000	0.36579	1.088000	0.41272	0.478000	0.44815	GAG		TCGA-IB-7890-01A-12D-2201-08	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3	1	0	1	350	1167	0	400	1	1	31	72	0	400	2		0	0	0	0	0	2	1	1.000000	337	1147	0	398	2		0	0	0	0	400	2	-20.000000	1	1	121412	1	36	1	2	2	4	2.345296	1	0.360000	2.800000	0.523100	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZFHX3	463	broad.mit.edu	37	16	72830417	72830417	+	Missense_Mutation	SNP	G	G	A	rs144401383		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr16:72830417G>A	ENST00000268489.5	-	9	6836	c.6164C>T	c.(6163-6165)cCg>cTg	p.P2055L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1141L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3			153		Ovarian(137;0.13)			CGGCTGAGGCGGCGCTGCCGG	0.662000																								0							SO:0001583	missense			ENST00000268489.5	1	1	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258120	0.10239	2.28E-4	0.0	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74947	-0.89;-0.89	5.4	5.4	0.78164	.	0.000000	0.46442	D	0.000284	T	0.73830	0.3637	L	0.46157	1.445	0.80722	D	1	D	0.57899	0.981	P	0.46685	0.524	T	0.73626	-0.3923	10	0.36615	T	0.2	.	18.7943	0.91988	0.0:0.0:1.0:0.0	.	2055	Q15911	ZFHX3_HUMAN	L	2055;1141	ENSP00000268489:P2055L;ENSP00000438926:P1141L	ENSP00000268489:P2055L	P	-	2	0	ZFHX3	71387918	1.000000	0.71417	0.099000	0.21106	0.103000	0.19146	7.142000	0.77339	2.523000	0.85059	0.655000	0.94253	CCG		TCGA-IB-7890-01A-12D-2201-08	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	1	0	0	54	380	0	86	0	1.616526e-02	1	1	0	86	2		0	0	0	0	0	2	1	1.000000	48	343	0	84	2		0	0	0	0	86	2	-3.221892	1	1	120878	1	24	1	2	2	4	2.360506	1	0.360000	2.800000	0.528163	0.930000	0.710000	1.000000	1.000000	0.921320	0.930000	1	0.820000	1.000000
SLC6A4	6532	broad.mit.edu	37	17	28537580	28537580	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:28537580C>A	ENST00000401766.2	-	10	1914	c.1402G>T	c.(1402-1404)Gcc>Tcc	p.A468S	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A468S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4			25				Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATGACCACGGCGAGCACGAAC	0.597000																								0							SO:0001583	missense			ENST00000401766.2	1	1	hg19	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.248984	0.22880	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.74632	-0.86;-0.86	6.04	-0.373	0.12516	.	0.664706	0.17075	N	0.188038	T	0.50786	0.1636	N	0.21324	0.655	0.09310	N	1	B	0.06786	0.001	B	0.14023	0.01	T	0.22521	-1.0214	10	0.17369	T	0.5	.	3.284	0.06925	0.1179:0.3322:0.3805:0.1694	.	468	P31645	SC6A4_HUMAN	S	510;468;468	ENSP00000385822:A468S;ENSP00000261707:A468S	ENSP00000261707:A468S	A	-	1	0	SLC6A4	25561706	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	0.560000	0.23500	-0.236000	0.09753	0.561000	0.74099	GCC		TCGA-IB-7890-01A-12D-2201-08	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	1	0	1	166	332	0	114	0	0	0	1	0	114	2		0	0	0	0	0	2	1	1.000000	165	327	0	112	2		0	0	0	0	114	2	-15.033990	1	1	0	0		1	1	2	3	2.115199	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ATAD5	79915	broad.mit.edu	37	17	29167753	29167753	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:29167753C>G	ENST00000321990.4	+	4	2573	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5			51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)			AGGCGCTCCTCTAGACATCAG	0.348000																								0							SO:0001583	missense			ENST00000321990.4	1	1	hg19	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413979	0.42817	.	.	ENSG00000176208	ENST00000321990	T	0.13089	2.62	6.05	6.05	0.98169	.	0.809409	0.11693	N	0.538668	T	0.41373	0.1156	M	0.63843	1.955	0.40418	D	0.979817	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.06006	-1.0851	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	732;732	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	C	732	ENSP00000313171:S732C	ENSP00000313171:S732C	S	+	2	0	ATAD5	26191879	0.984000	0.35163	1.000000	0.80357	0.882000	0.50991	3.568000	0.53820	2.878000	0.98634	0.650000	0.86243	TCT		TCGA-IB-7890-01A-12D-2201-08	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	1	0	1	74	428	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	1.000000	74	424	0	78	2		0	0	0	0	78	2	-2.967187	1	1	121410	1	40	1	1	2	3	2.115199	1	0.360000	2.800000	0.457627	0.960000	0.770000	1.000000	1.000000	0.943385	0.960000	1	0.860000	1.000000
NMT1	4836	broad.mit.edu	37	17	43174523	43174523	+	Silent	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43174523C>A	ENST00000592782.1	+	7	755	c.624C>A	c.(622-624)ccC>ccA	p.P208P	NMT1_ENST00000258960.2_Silent_p.P208P|NMT1_ENST00000590114.1_Intron			P30419	NMT1_HUMAN	N-myristoyltransferase 1			8		Prostate(33;0.155)			GCTGGCTCCCCCAGTGGCACT	0.597000											OREG0024469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000592782.1	1	1	hg19	CCDS11494.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	1	0	1	95	591	0	233	1	9.999984e-01	22	95	0	233	2		0	0	0	0	0	2	1	1.000000	90	565	0	228	2		0	0	0	0	233	2	-2.841679	1	1	0	0		1	1	2	3	2.115199	1	0.360000	2.800000	0.457627	0.900000	0.740000	1.000000	1.000000	0.905311	0.900000	1	0.820000	1.000000
HEXIM1	10614	broad.mit.edu	37	17	43226570	43226570	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:43226570T>C	ENST00000332499.2	+	1	1887	c.13T>C	c.(13-15)Ttc>Ctc	p.F5L	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1			11					GGCCGAGCCATTCTTGTCAGA	0.458000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000332499.2	1	1	hg19	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	T	0.625	-0.819580	0.02776	.	.	ENSG00000186834	ENST00000332499	.	.	.	3.94	1.93	0.25924	.	.	.	.	.	T	0.08758	0.0217	N	0.02011	-0.69	0.19575	N	0.999967	B	0.02656	0.0	B	0.01281	0.0	T	0.37596	-0.9699	8	0.02654	T	1	-0.0421	5.2187	0.15356	0.0:0.727:0.0:0.273	.	5	O94992	HEXI1_HUMAN	L	5	.	ENSP00000328773:F5L	F	+	1	0	HEXIM1	40582353	0.400000	0.25295	0.983000	0.44433	0.946000	0.59487	0.061000	0.14366	0.997000	0.38969	-0.242000	0.12053	TTC		TCGA-IB-7890-01A-12D-2201-08	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	1	0	1	243	480	0	221	1	1	32	49	0	221	2		0	0	0	0	0	2	1	1.000000	219	460	0	217	2		0	0	0	0	221	2	-20.000000	1	1	121404	1	35	1	1	2	3	2.115199	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
XYLT2	64132	broad.mit.edu	37	17	48435627	48435627	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:48435627G>A	ENST00000017003.2	+	10	2050	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II			12	Breast(11;7.18e-19)				GGTTACTGGGGCCGCTGGACG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000017003.2	1	1	hg19	CCDS11563.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367046.1	1	0	1	33	137	0	62	1	9.560030e-01	9	15	0	62	2		0	0	0	0	0	2	1	1.000000	32	130	0	61	2		0	0	0	0	62	2	-20.000000	1	1	0	0		1	1	2	3	2.104474	1	0.360000	2.800000	0.457627	0.990000	0.910000	1.000000	1.000000	0.995151	0.990000	1	0.990000	1.000000
DLG4	1742	broad.mit.edu	37	17	7106623	7106623	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7106623G>A	ENST00000399506.2	-	7	722	c.531C>T	c.(529-531)ggC>ggT	p.G177G	DLG4_ENST00000485100.1_Silent_p.G174G|DLG4_ENST00000399510.2_Silent_p.G220G|DLG4_ENST00000302955.6_Silent_p.G174G			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)			18				Guanidine(DB00536)	GGTTCCCTACGCCCCCTGCGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000399506.2	1	1	hg19																																																																																					TCGA-IB-7890-01A-12D-2201-08	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	1	0	1	26	92	0	46	0	9.783003e-01	1	24	0	46	2		0	0	0	0	0	2	1	1.000000	25	86	0	46	2		0	0	0	0	46	2	-3.150560	1	1	120950	56	46	1	0	2	2	1.785620	1	0.360000	2.800000	0.360000	0.990000	0.840000	1.000000	1.000000	0.988287	0.990000	1	0.990000	1.000000
TP53	7157	broad.mit.edu	37	17	7578254	7578254	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr17:7578254C>A	ENST00000269305.4	-	6	784	c.595G>T	c.(595-597)Gga>Tga	p.G199*	TP53_ENST00000445888.2_Nonsense_Mutation_p.G199*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.G199*|TP53_ENST00000420246.2_Nonsense_Mutation_p.G199*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G199*|TP53_ENST00000413465.2_Nonsense_Mutation_p.G199*	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.G199R(9)|p.0?(8)|p.?(5)|p.G199*(3)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CGCAAATTTCCTTCCACTCGG	0.547000		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	33	Substitution - Missense(9)|Whole gene deletion(8)|Unknown(6)|Deletion - Frameshift(4)|Substitution - Nonsense(3)|Deletion - In frame(1)|Complex - frameshift(1)|Insertion - In frame(1)						SO:0001587	stop_gained	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620630	0.46736	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	4.32	0.51571	.	0.052866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2871	12.0218	0.53348	0.0:0.9154:0.0:0.0846	.	.	.	.	X	199;199;199;199;199;199;188;106;67;106;67	.	ENSP00000269305:G199X	G	-	1	0	TP53	7518979	1.000000	0.71417	0.996000	0.52242	0.023000	0.10783	7.775000	0.85489	1.374000	0.46228	-0.253000	0.11424	GGA		TCGA-IB-7890-01A-12D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	100	180	0	72	0	9.999867e-01	1	33	0	72	2	1	1	367	671	0	1634	2	1	1.000000	99	178	0	72	2		0	0	0	0	72	2	-20.000000	1	1	0	0		1	0	2	2	1.785620	1	0.360000	2.800000	0.360000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
EPB41L3	23136	broad.mit.edu	37	18	5415859	5415859	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr18:5415859G>A	ENST00000341928.2	-	13	2365	c.2025C>T	c.(2023-2025)agC>agT	p.S675S	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Silent_p.S675S|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3			105					CTAGGGAGGCGCTCAAGGAGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000341928.2	1	1	hg19	CCDS11838.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	1	0	0	72	241	0	81		0	0	0	0	81	2		0	0	0	0	0	2	1	1.000000	72	234	0	77	2		0	0	0	0	81	2	-4.280753	1	1	0	0		1	2	2	4	1.887211	1	0.360000	2.800000	0.408940	0.990000	0.990000	1.000000	1.000000	0.999949	0.990000	1	0.990000	1.000000
ATP4A	495	broad.mit.edu	37	19	36053403	36053403	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:36053403G>A	ENST00000262623.3	-	4	382	c.354C>T	c.(352-354)gcC>gcT	p.A118A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide			53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	AGATGGCGGCGGCAACCCACA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000262623.3	1	1	hg19	CCDS12467.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	0	0	0	11	194	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.997864	11	182	0	57	2		0	0	0	0	58	2	-4.788962	1	1	121404	2	37	1	1	2	3	2.000861	1	0.360000	2.800000	0.444058	0.370000	0.190000	1.000000	0.340000	0.447910	0.370000	0	0.260000	0.570000
STAP2	55620	broad.mit.edu	37	19	4328730	4328730	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:4328730G>A	ENST00000594605.1	-	6	655	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	STAP2_ENST00000600324.1_Missense_Mutation_p.R178W|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2			23		Hepatocellular(1079;0.137)			CCGCTGGGCCGCAGCAGCAGG	0.711000																								0							SO:0001583	missense			ENST00000594605.1	0	1	hg19	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644273	0.87859	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.47	2.02	0.26589	SH2 motif (3);	0.082621	0.50627	U	0.000106	T	0.76608	0.4011	M	0.82716	2.605	0.43857	D	0.996459	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78964	-0.1996	9	0.87932	D	0	-13.5939	9.2504	0.37551	0.0:0.0:0.6804:0.3196	.	178;178	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	W	178	.	ENSP00000317912:R178W	R	-	1	2	STAP2	4279730	0.986000	0.35501	1.000000	0.80357	0.894000	0.52154	0.524000	0.22940	2.035000	0.60131	0.479000	0.44913	CGG		TCGA-IB-7890-01A-12D-2201-08	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	0	0	0	3	74	0	30	0	2.690479e-01	0	20	0	30	2		0	0	0	0	0	2	1	0.804153	2	73	0	30	2		0	0	0	0	30	2	-6.450746	1	0	0	0		1	1	2	3	2.059460	1	0.360000	2.800000	0.455967	0.290000	0.080000	0.750000	0.250000	0.332354	0.290000	0	0.160000	0.490000
PTPRS	5802	broad.mit.edu	37	19	5210704	5210704	+	Silent	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:5210704G>T	ENST00000587303.1	-	33	5446	c.5347C>A	c.(5347-5349)Cgg>Agg	p.R1783R	PTPRS_ENST00000348075.2_Silent_p.R1745R|PTPRS_ENST00000372412.4_Silent_p.R1784R|PTPRS_ENST00000592099.1_Silent_p.R1336R|PTPRS_ENST00000357368.4_Silent_p.R1783R|PTPRS_ENST00000353284.2_Silent_p.R1336R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.R1745R|PTPRS_ENST00000262963.6_Silent_p.R1763R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S			61				Alendronate(DB00630)|Etidronic acid(DB01077)	CCCATCTCCCGCAGCTTGGTC	0.647000																								0							SO:0001819	synonymous_variant			ENST00000587303.1	1	1	hg19	CCDS45930.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2	1	0	1	68	217	0	85	1	1	4	105	0	85	2		0	0	0	0	0	2	1	1.000000	67	210	0	84	2		0	0	0	0	85	2	-4.621529	1	1	0	0		1	1	2	3	2.059460	1	0.360000	2.800000	0.455967	0.990000	0.990000	1.000000	1.000000	0.999998	0.990000	1	0.990000	1.000000
GZMM	3004	broad.mit.edu	37	19	547332	547332	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:547332G>A	ENST00000264553.3	+	2	146	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)			3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)			TCCCCCACTCGCGCCCGTACA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000264553.3	1	1	hg19	CCDS12031.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	0	0	0	27	558	0	205	0	1.317565e-02	0	4	0	205	2		0	0	0	0	0	2	1	1.000000	26	547	0	204	2		0	0	0	0	205	2	-4.888592	1	1	121388	1	36	1	1	2	3	1.998603	1	0.360000	2.800000	0.445791	0.300000	0.190000	1.000000	0.290000	0.382899	0.300000	0	0.240000	0.400000
PEG3	5178	broad.mit.edu	37	19	57328017	57328017	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:57328017C>T	ENST00000326441.9	-	10	2156	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	PEG3_ENST00000598410.1_Missense_Mutation_p.R474H|PEG3_ENST00000423103.2_Missense_Mutation_p.R598H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R472H|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	p.R598H(2)		170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)			ttcacgttcacgttcatgttc	0.458000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000326441.9	1	1	hg19	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0.743	-0.775804	0.02951	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	1.08	-0.0769	0.13721	.	.	.	.	.	T	0.02193	0.0068	L	0.50333	1.59	.	.	.	B;B;P	0.40107	0.055;0.291;0.703	B;B;B	0.23150	0.001;0.013;0.044	T	0.41251	-0.9519	8	0.56958	D	0.05	.	3.4582	0.07523	0.0:0.7126:0.0:0.2874	.	474;598;533	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	598	ENSP00000326581:R598H;ENSP00000403051:R598H	ENSP00000326581:R598H	R	-	2	0	ZIM2	62019829	0.000000	0.05858	0.010000	0.14722	0.165000	0.22458	-0.044000	0.12023	0.063000	0.16370	0.525000	0.51046	CGT		TCGA-IB-7890-01A-12D-2201-08	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2	1	0	1	54	246	0	60	0	8.835486e-02	0	3	0	60	2		0	0	0	0	0	2	1	1.000000	54	244	0	59	2		0	0	0	0	60	2	-20.000000	1	1	0	0		1	1	2	3	2.074068	1	0.360000	2.800000	0.457627	0.990000	0.910000	1.000000	1.000000	0.994469	0.990000	1	0.990000	1.000000
MUC16	94025	broad.mit.edu	37	19	9070332	9070332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9070332G>A	ENST00000397910.4	-	3	17317	c.17114C>T	c.(17113-17115)gCg>gTg	p.A5705V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TTCTGTGTGCGCAGTGTCTTT	0.502000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.554	0.287072	0.10513	7.16E-4	0.0	ENSG00000181143	ENST00000397910	T	0.17854	2.25	1.54	-1.16	0.09678	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	.	.	.	P	0.44578	0.838	B	0.24155	0.051	T	0.31806	-0.9930	8	0.87932	D	0	.	3.5904	0.07986	0.0:0.2807:0.4342:0.285	.	5705	B5ME49	.	V	5705	ENSP00000381008:A5705V	ENSP00000381008:A5705V	A	-	2	0	MUC16	8931332	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.207000	0.09384	-0.197000	0.10350	0.456000	0.33151	GCG		TCGA-IB-7890-01A-12D-2201-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	1	57	338	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	58	336	0	73	2		0	0	0	0	74	2	-3.222927	1	1	121054	11	44	1	1	2	3	2.059460	1	0.360000	2.800000	0.455967	0.940000	0.730000	1.000000	1.000000	0.925974	0.940000	1	0.830000	1.000000
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	7	429	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	0.979809	6	424	0	120	2		0	0	0	0	122	2	-2.339787	0	1	0	0		1	1	2	3	2.059460	1	0.360000	2.800000	0.455967	0.110000	0.040000	0.230000	0.110000	0.127691	0.110000	0	0.070000	0.160000
HSD3B1	3283	broad.mit.edu	37	1	120056677	120056677	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:120056677C>T	ENST00000369413.3	+	4	676	c.531C>T	c.(529-531)ggC>ggT	p.G177G	HSD3B1_ENST00000235547.6_Silent_p.G179G|HSD3B1_ENST00000528909.1_Silent_p.G177G			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1			32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Trilostane(DB01108)	TGAAAAACGGCGGCACCCTGT	0.512000																								0							SO:0001819	synonymous_variant			ENST00000369413.3	1	1	hg19	CCDS903.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	1	0	1	89	358	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	1.000000	87	350	0	147	2		0	0	0	0	152	2	-3.107943	1	1	121412	22	47	1	1	2	3	1.807388	0	0.360000	2.800000	0.372426	0.990000	0.920000	1.000000	1.000000	0.995412	0.990000	1	0.990000	1.000000
CDC42	998	broad.mit.edu	37	1	22405018	22405018	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:22405018A>G	ENST00000344548.3	+	3	298	c.47A>G	c.(46-48)aAa>aGa	p.K16R	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.K16R|CDC42_ENST00000315554.8_Missense_Mutation_p.K16R|CDC42_ENST00000421089.2_5'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42			12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)			GCTGTTGGTAAAACATGTCTC	0.358000																								0							SO:0001583	missense			ENST00000344548.3	1	1	hg19	CCDS221.1	.	.	.	.	.	.	.	.	.	.	a	26.3	4.721851	0.89298	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000411827	D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65	4.91	4.91	0.64330	Small GTP-binding protein domain (1);	0.048902	0.85682	D	0.000000	D	0.98118	0.9379	H	0.99997	5.475	0.80722	D	1	D;D;D	0.71674	0.985;0.998;0.987	D;D;P	0.73380	0.928;0.98;0.88	D	0.98100	1.0414	10	0.87932	D	0	.	13.365	0.60678	1.0:0.0:0.0:0.0	.	16;16;16	B4E1U9;P60953;P60953-1	.;CDC42_HUMAN;.	R	16	ENSP00000383118:K16R;ENSP00000341072:K16R;ENSP00000314458:K16R;ENSP00000398327:K16R	ENSP00000314458:K16R	K	+	2	0	CDC42	22277605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.630000	0.90987	1.854000	0.53819	0.528000	0.53228	AAA		TCGA-IB-7890-01A-12D-2201-08	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	1	0	1	75	349	0	89	1	1	103	469	0	89	2		0	0	0	0	0	2	1	1.000000	69	340	0	88	2		0	0	0	0	89	2	-20.000000	1	1	0	0		1	1	2	3	1.828731	0	0.360000	2.800000	0.375732	0.990000	0.810000	1.000000	1.000000	0.967916	0.990000	1	0.910000	1.000000
FMN2	56776	broad.mit.edu	37	1	240370125	240370125	+	Silent	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:240370125A>G	ENST00000319653.9	+	5	2243	c.2013A>G	c.(2011-2013)ggA>ggG	p.G671G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2			178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		AGTCTGAGGGACAGGCCACTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000319653.9	1	1	hg19	CCDS31069.2																																																																																				TCGA-IB-7890-01A-12D-2201-08	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	1	0	1	37	202	0	71	0	2.426887e-01	0	6	0	71	2		0	0	0	0	0	2	1	1.000000	37	200	0	71	2		0	0	0	0	71	2	-19.001430	1	1	0	0		1	1	3	4	2.138298	1	0.360000	2.800000	0.470549	0.990000	0.770000	1.000000	1.000000	0.970587	0.990000	1	0.910000	1.000000
AJAP1	55966	broad.mit.edu	37	1	4772349	4772349	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:4772349C>T	ENST00000378191.4	+	2	800	c.419C>T	c.(418-420)gCg>gTg	p.A140V	AJAP1_ENST00000378190.3_Missense_Mutation_p.A140V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1			24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)			TCGTCCTCCGCGGTGGCCGGT	0.716000																								0							SO:0001583	missense			ENST00000378191.4	1	1	hg19	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	1.639	-0.516965	0.04171	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.44482	0.92;0.92	4.55	-0.916	0.10489	.	2.012640	0.02618	N	0.102845	T	0.26484	0.0647	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15954	-1.0419	10	0.30078	T	0.28	1.4174	7.1766	0.25749	0.0:0.4287:0.0:0.5713	.	140	Q9UKB5	AJAP1_HUMAN	V	140	ENSP00000367432:A140V;ENSP00000367433:A140V	ENSP00000367432:A140V	A	+	2	0	AJAP1	4672209	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-1.001000	0.03690	-0.051000	0.13334	-0.362000	0.07510	GCG		TCGA-IB-7890-01A-12D-2201-08	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	1	0	0	10	35	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	0.996697	10	31	0	17	2		0	0	0	0	17	2	-19.928010	1	1	118208	7	29	1	1	2	3	1.787418	0	0.360000	2.800000	0.367964	0.990000	0.680000	1.000000	1.000000	0.967865	0.990000	1	0.940000	1.000000
GLMN	11146	broad.mit.edu	37	1	92737124	92737124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr1:92737124A>G	ENST00000370360.3	-	8	902	c.821T>C	c.(820-822)tTt>tCt	p.F274S	GLMN_ENST00000534881.1_Missense_Mutation_p.F274S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein			17		all_lung(203;0.00827)|Lung NSC(277;0.0295)			TTCTTCTTCAAATTCAAGGTA	0.353000									Multiple Glomus Tumors (of the Skin), Familial															0							SO:0001583	missense	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	ENST00000370360.3	1	1	hg19	CCDS738.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171313	0.57584	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.47528	0.84;0.84	5.08	5.08	0.68730	.	0.151067	0.64402	D	0.000010	T	0.38081	0.1027	L	0.56769	1.78	0.40471	D	0.980344	P;P	0.43633	0.813;0.492	P;B	0.44647	0.456;0.193	T	0.35076	-0.9803	10	0.45353	T	0.12	-13.5471	14.0348	0.64638	1.0:0.0:0.0:0.0	.	274;274	B4DJ85;Q92990	.;GLMN_HUMAN	S	274	ENSP00000359385:F274S;ENSP00000440156:F274S	ENSP00000359385:F274S	F	-	2	0	GLMN	92509712	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.565000	0.67365	1.902000	0.55061	0.482000	0.46254	TTT		TCGA-IB-7890-01A-12D-2201-08	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	1	0	1	82	357	0	91	0	3.890263e-01	0	7	0	91	2		0	0	0	0	0	2	1	1.000000	82	351	0	91	2		0	0	0	0	91	2	-20.000000	1	1	0	0		1	1	2	3	1.807388	0	0.360000	2.800000	0.372426	0.990000	0.860000	1.000000	1.000000	0.984102	0.990000	1	0.950000	1.000000
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:54824818C>T	ENST00000243911.2	+	1	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	p.R344C(1)		26			Colorectal(105;0.202)		CCTGGAATTGCGCAACACCTT	0.517000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000243911.2	1	1	hg19	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967174	0.34754	.	.	ENSG00000124089	ENST00000243911	T	0.58358	0.34	5.09	3.06	0.35304	.	0.000000	0.64402	D	0.000014	T	0.80989	0.4730	H	0.97440	4.005	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	D	0.85842	0.1398	10	0.87932	D	0	.	13.1951	0.59734	0.4134:0.5866:0.0:0.0	.	344	P41968	MC3R_HUMAN	C	307	ENSP00000243911:R307C	ENSP00000243911:R307C	R	+	1	0	MC3R	54258225	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	2.103000	0.41806	0.477000	0.27464	0.555000	0.69702	CGC		TCGA-IB-7890-01A-12D-2201-08	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2	1	0	0	47	1071	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1.000000	47	1052	0	164	2		0	0	0	0	167	2	-4.402638	1	1	0	0		1	2	2	4	2.306405	1	0.360000	2.800000	0.515298	0.310000	0.220000	1.000000	0.300000	0.375074	0.310000	0	0.260000	0.380000
ZNF831	128611	broad.mit.edu	37	20	57769548	57769548	+	Silent	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	p.T1158T(1)		125	all_lung(29;0.0085)				ACTCAGGGACGTCCCGGAGCC	0.672000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000371030.2	1	1	hg19	CCDS42894.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	1	84	480	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1.000000	82	468	0	158	2		0	0	0	0	161	2	-20.000000	1	1	120958	1	31	1	2	2	4	2.306405	1	0.360000	2.800000	0.515298	0.990000	0.880000	1.000000	1.000000	0.990513	0.990000	1	0.990000	1.000000
TCN2	6948	broad.mit.edu	37	22	31011344	31011344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr22:31011344C>T	ENST00000215838.3	+	5	1131	c.637C>T	c.(637-639)Cct>Tct	p.P213S	TCN2_ENST00000405742.3_Missense_Mutation_p.P209S|TCN2_ENST00000407817.3_Missense_Mutation_p.P186S			P20062	TCO2_HUMAN	transcobalamin II			22				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACTTCAACCCTGGTCGGAG	0.557000																								0							SO:0001583	missense			ENST00000215838.3	1	1	hg19	CCDS13881.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293005	0.23564	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.33865	1.39;1.39;1.39	5.82	2.59	0.31030	.	0.407958	0.29684	N	0.011470	T	0.20129	0.0484	N	0.22421	0.69	0.80722	D	1	B;B;B	0.27166	0.17;0.113;0.113	B;B;B	0.30029	0.11;0.031;0.031	T	0.05386	-1.0888	10	0.14252	T	0.57	-3.8544	5.8302	0.18577	0.1552:0.6812:0.0:0.1636	.	186;209;213	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	S	213;209;186	ENSP00000215838:P213S;ENSP00000385914:P209S;ENSP00000384914:P186S	ENSP00000215838:P213S	P	+	1	0	TCN2	29341344	0.001000	0.12720	0.636000	0.29352	0.333000	0.28666	0.476000	0.22180	0.357000	0.24183	0.561000	0.74099	CCT		TCGA-IB-7890-01A-12D-2201-08	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321282.2	1	0	1	63	383	0	123	1	9.997559e-01	6	70	0	123	2		0	0	0	0	0	2	1	1.000000	63	379	0	121	2		0	0	0	0	123	2	-3.222205	1	1	0	0		1	1	2	3	2.080136	1	0.360000	2.800000	0.457627	0.920000	0.720000	1.000000	1.000000	0.915268	0.920000	1	0.820000	1.000000
BUB1	699	broad.mit.edu	37	2	111399371	111399371	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:111399371G>T	ENST00000302759.6	-	21	2591	c.2473C>A	c.(2473-2475)Cct>Act	p.P825T	BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Missense_Mutation_p.P825T|BUB1_ENST00000535254.1_Missense_Mutation_p.P805T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase			45		Ovarian(717;0.0822)			GGGTTGGCAGGCTTTTGGACC	0.398000																								0							SO:0001583	missense			ENST00000302759.6	1	1	hg19	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326955	0.81690	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759	T;T;T	0.64085	-0.08;2.08;-0.08	6.16	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049093	0.85682	D	0.000000	T	0.80380	0.4612	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.83628	0.0143	10	0.87932	D	0	-15.6873	14.2663	0.66121	0.0712:0.0:0.9288:0.0	.	805;825;825	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	T	805;825;825	ENSP00000441013:P805T;ENSP00000386701:P825T;ENSP00000302530:P825T	ENSP00000302530:P825T	P	-	1	0	BUB1	111115843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.376000	0.73141	1.631000	0.50456	0.650000	0.86243	CCT		TCGA-IB-7890-01A-12D-2201-08	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	1	0	1	128	738	0	180	1	8.169202e-01	9	11	0	180	2		0	0	0	0	0	2	1	1.000000	127	730	0	179	2		0	0	0	0	180	2	-20.000000	1	1	0	0		1	1	2	3	2.079998	1	0.360000	2.800000	0.457627	0.960000	0.810000	1.000000	1.000000	0.952582	0.960000	1	0.880000	1.000000
GAD1	2571	broad.mit.edu	37	2	171687567	171687567	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:171687567G>T	ENST00000358196.3	+	5	962	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Missense_Mutation_p.V138L|GAD1_ENST00000344257.5_Missense_Mutation_p.V138L	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)			35					CTCCACCAAGGTGCTGGACTT	0.547000																								0							SO:0001583	missense			ENST00000358196.3	1	1	hg19	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180048	0.94846	.	.	ENSG00000128683	ENST00000358196;ENST00000375272;ENST00000344257	T;T;T	0.44083	0.93;0.93;0.93	5.9	5.9	0.94986	Pyridoxal phosphate-dependent transferase, major domain (1);	0.167622	0.51477	D	0.000087	T	0.53818	0.1820	M	0.75615	2.305	0.80722	D	1	B;P	0.35348	0.023;0.496	B;B	0.40228	0.088;0.323	T	0.56854	-0.7910	10	0.87932	D	0	-18.4861	20.2673	0.98463	0.0:0.0:1.0:0.0	.	138;138	Q99259;Q99259-3	DCE1_HUMAN;.	L	138	ENSP00000350928:V138L;ENSP00000364421:V138L;ENSP00000341167:V138L	ENSP00000341167:V138L	V	+	1	0	GAD1	171395813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.638000	0.83328	2.786000	0.95864	0.643000	0.83706	GTG		TCGA-IB-7890-01A-12D-2201-08	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2	1	0	1	61	377	0	96	0	2.012987e-02	1	1	0	96	2		0	0	0	0	0	2	1	1.000000	57	369	0	92	2		0	0	0	0	96	2	-20.000000	1	1	0	0		1	1	2	3	2.079998	1	0.360000	2.800000	0.457627	0.910000	0.710000	1.000000	1.000000	0.905526	0.910000	1	0.800000	1.000000
DCAF17	80067	broad.mit.edu	37	2	172330428	172330428	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:172330428T>A	ENST00000375255.3	+	10	1361	c.1034T>A	c.(1033-1035)aTc>aAc	p.I345N	DCAF17_ENST00000539783.1_Intron|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17			17					TCTGACTGGATCTATTTCCAT	0.348000																								0							SO:0001583	missense			ENST00000375255.3	1	1	hg19	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.534753|4.534753	0.85812|0.85812	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000429466|ENST00000339506;ENST00000431110	T|.	0.53423|.	0.62|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.048318|.	0.85682|.	D|.	0.000000|.	T|T	0.70579|0.70579	0.3240|0.3240	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.79108|.	0.992|.	T|T	0.69383|0.69383	-0.5160|-0.5160	10|5	0.66056|.	D|.	0.02|.	-10.6448|-10.6448	15.6457|15.6457	0.77049|0.77049	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	345|.	Q5H9S7|.	DCA17_HUMAN|.	N|T	345;95|96;47	ENSP00000364404:I345N|.	ENSP00000364404:I345N|.	I|S	+|+	2|1	0|0	DCAF17|DCAF17	172038674|172038674	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.618000|7.618000	0.83043|0.83043	2.075000|2.075000	0.62263|0.62263	0.533000|0.533000	0.62120|0.62120	ATC|TCT		TCGA-IB-7890-01A-12D-2201-08	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	1	0	1	32	242	0	44	1	2.013880e-01	2	5	0	44	2		0	0	0	0	0	2	1	1.000000	32	238	0	44	2		0	0	0	0	44	2	-20.000000	1	1	0	0		1	1	2	3	2.079998	1	0.360000	2.800000	0.457627	0.760000	0.540000	1.000000	1.000000	0.777277	0.760000	0	0.640000	0.900000
TTN	7273	broad.mit.edu	37	2	179638314	179638314	+	Missense_Mutation	SNP	C	C	T	rs148920986	by1000genomes	TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:179638314C>T	ENST00000591111.1	-	32	7693	c.7469G>A	c.(7468-7470)cGt>cAt	p.R2490H	TTN_ENST00000360870.5_Missense_Mutation_p.R2490H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2490H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2444H|TTN_ENST00000589042.1_Missense_Mutation_p.R2490H|TTN_ENST00000342175.6_Missense_Mutation_p.R2444H|TTN_ENST00000359218.5_Missense_Mutation_p.R2444H|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)		GGCCTGTACACGGTCATCAGG	0.438000																								0							SO:0001583	missense			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	12.75	2.031724	0.35797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70334	0.3212	M	0.70903	2.155	0.31701	N	0.640681	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	D;D;D;D;D	0.74348	0.947;0.947;0.947;0.971;0.983	T	0.72988	-0.4124	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2444;2444;2444;2490;2490	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	2490;2444;2444;2444;2444;2490	ENSP00000343764:R2490H;ENSP00000434586:R2444H;ENSP00000340554:R2444H;ENSP00000352154:R2444H;ENSP00000354117:R2490H	ENSP00000340554:R2444H	R	-	2	0	TTN	179346559	1.000000	0.71417	0.966000	0.40874	0.554000	0.35429	7.818000	0.86416	2.765000	0.95021	0.650000	0.86243	CGT		TCGA-IB-7890-01A-12D-2201-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	0	13	529	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.999506	13	523	0	73	2		0	0	0	0	73	2	-2.613097	1	1	121406	1	39	1	1	2	3	2.027219	1	0.360000	2.800000	0.450077	0.160000	0.080000	1.000000	0.150000	0.226666	0.160000	0	0.110000	0.230000
ZNF804A	91752	broad.mit.edu	37	2	185801329	185801329	+	Silent	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:185801329A>G	ENST00000302277.6	+	4	1800	c.1206A>G	c.(1204-1206)tcA>tcG	p.S402S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A			146					TGGCCCCTTCAAATACTGAAG	0.388000																								0							SO:0001819	synonymous_variant			ENST00000302277.6	1	1	hg19	CCDS2291.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	1	0	1	57	379	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	56	377	0	71	2		0	0	0	0	73	2	-20.000000	1	1	0	0		1	1	2	3	2.027219	1	0.360000	2.800000	0.450077	0.850000	0.650000	1.000000	1.000000	0.860113	0.850000	1	0.740000	0.990000
PKDCC	91461	broad.mit.edu	37	2	42281326	42281326	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:42281326C>T	ENST00000294964.5	+	3	1093	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic			8					GGAGGAGACGCCGTGTGCAGG	0.637000																								0							SO:0001583	missense			ENST00000294964.5	1	1	hg19	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917815	0.17982	.	.	ENSG00000162878	ENST00000294964	.	.	.	5.08	5.08	0.68730	Protein kinase, catalytic domain (1);	0.270435	0.42548	D	0.000699	T	0.33352	0.0860	N	0.21194	0.64	0.45015	D	0.998034	B	0.30326	0.276	B	0.29267	0.1	T	0.13764	-1.0497	9	0.07482	T	0.82	-25.5501	10.9735	0.47452	0.0:0.9047:0.0:0.0953	.	305	Q504Y2	PKDCC_HUMAN	S	305	.	ENSP00000294964:P305S	P	+	1	0	PKDCC	42134830	0.232000	0.23762	0.252000	0.24328	0.754000	0.42855	1.211000	0.32382	2.367000	0.80283	0.561000	0.74099	CCG		TCGA-IB-7890-01A-12D-2201-08	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3	1	0	1	11	54	0	27	0	9.999338e-01	0	101	0	27	2		0	0	0	0	0	2	1	0.998717	11	53	0	27	2		0	0	0	0	27	2	-19.869220	1	1	0	0		1	0	2	2	1.840964	1	0.360000	2.800000	0.360000	0.940000	0.520000	1.000000	1.000000	0.882651	0.940000	1	0.710000	1.000000
ALMS1	7840	broad.mit.edu	37	2	73675916	73675916	+	Silent	SNP	T	T	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr2:73675916T>C	ENST00000264448.6	+	8	2370	c.2259T>C	c.(2257-2259)acT>acC	p.T753T	ALMS1_ENST00000377715.1_Silent_p.T753T|ALMS1_ENST00000409009.1_Silent_p.T711T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					ACCAGAAGACTGAGATACCAG	0.443000																								0							SO:0001819	synonymous_variant			ENST00000264448.6	1	1	hg19	CCDS42697.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	1	0	1	149	1010	0	207	0	1.281800e-01	1	4	0	207	2		0	0	0	0	0	2	1	1.000000	144	997	0	205	2		0	0	0	0	207	2	-20.000000	1	1	0	0		1	1	2	3	2.079998	1	0.360000	2.800000	0.457627	0.830000	0.710000	0.970000	0.840000	0.845819	0.830000	0	0.770000	0.910000
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1		PLXND1/TMCC1(4)	25					CTGCTGCTGCTGCAGCTCCAT	0.572000																								0							SO:0001583	missense			ENST00000393238.3	0	1	hg19	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		TCGA-IB-7890-01A-12D-2201-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	0	7	454	0	102	0	3.361927e-01	0	70	0	102	2		0	0	0	0	0	2	1	0.982627	6	468	0	103	2		0	0	0	0	102	2	-2.087369	0	1	0	0		1	1	3	4	2.397542	1	0.360000	2.800000	0.529412	0.120000	0.040000	0.230000	0.120000	0.130371	0.120000	0	0.070000	0.180000
IGSF10	285313	broad.mit.edu	37	3	151155880	151155880	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:151155880C>A	ENST00000282466.3	-	6	6468	c.6469G>T	c.(6469-6471)Gac>Tac	p.D2157Y	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10			116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		ACAGCTGTGTCTCCAGCTTTG	0.443000																								0							SO:0001583	missense			ENST00000282466.3	1	1	hg19	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170322	0.57584	.	.	ENSG00000152580	ENST00000282466	T	0.30714	1.52	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.270973	0.25968	N	0.027154	T	0.51669	0.1688	L	0.47016	1.485	0.58432	D	0.999999	D;D	0.63880	0.993;0.984	D;P	0.68192	0.956;0.847	T	0.47787	-0.9090	10	0.87932	D	0	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	2157;184	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	Y	2157	ENSP00000282466:D2157Y	ENSP00000282466:D2157Y	D	-	1	0	IGSF10	152638570	1.000000	0.71417	0.734000	0.30879	0.291000	0.27294	5.741000	0.68638	2.775000	0.95449	0.655000	0.94253	GAC		TCGA-IB-7890-01A-12D-2201-08	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	1	0	1	69	433	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	67	428	0	71	2		0	0	0	0	73	2	-20.000000	1	1	0	0		1	1	3	4	2.397542	1	0.360000	2.800000	0.529412	0.990000	0.820000	1.000000	1.000000	0.973781	0.990000	1	0.920000	1.000000
CCDC39	339829	broad.mit.edu	37	3	180334120	180334120	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:180334120T>G	ENST00000442201.2	-	19	2737	c.2618A>C	c.(2617-2619)aAa>aCa	p.K873T	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39			45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		ACGACTGCCTTTTGTGCTAGC	0.373000																								0							SO:0001583	missense			ENST00000442201.2	1	1	hg19	CCDS46964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.12|13.12	2.143344|2.143344	0.37825|0.37825	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000473854|ENST00000489868;ENST00000442201	.|.	.|.	.|.	5.23|5.23	0.0174|0.0174	0.14112|0.14112	.|.	.|.	.|.	.|.	.|.	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.20685|0.20685	0.6|0.6	0.09310|0.09310	N|N	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.15484	.|0.013	T|T	0.24297|0.24297	-1.0164|-1.0164	6|8	0.41790|0.21014	T|T	0.15|0.42	.|.	0.3031|0.3031	0.00276|0.00276	0.2106:0.1895:0.2605:0.3393|0.2106:0.1895:0.2605:0.3393	.|.	.|873	.|Q9UFE4	.|CCD39_HUMAN	Q|T	57|45;873	.|.	ENSP00000418482:K57Q|ENSP00000405708:K873T	K|K	-|-	1|2	0|0	CCDC39|CCDC39	181816814|181816814	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.089000|0.089000	0.18198|0.18198	-0.057000|-0.057000	0.11768|0.11768	0.399000|0.399000	0.25367|0.25367	0.374000|0.374000	0.22700|0.22700	AAG|AAA		TCGA-IB-7890-01A-12D-2201-08	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	1	0	1	113	182	0	26	0	4.962553e-01	0	4	0	26	2		0	0	0	0	0	2	1	1.000000	113	176	0	26	2		0	0	0	0	26	2	-20.000000	1	1	0	0		1	1	3	4	2.397542	1	0.360000	2.800000	0.529412	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
ZNF385D	79750	broad.mit.edu	37	3	21462858	21462858	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:21462858C>T	ENST00000281523.2	-	8	1554	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D			46					actgctgctgcggctgctgca	0.517000																								0							SO:0001583	missense			ENST00000281523.2	1	1	hg19	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	8.978	0.974663	0.18736	.	.	ENSG00000151789	ENST00000281523	T	0.33865	1.39	6.08	6.08	0.98989	.	0.053442	0.85682	D	0.000000	T	0.31009	0.0783	L	0.34521	1.04	0.48452	D	0.999653	B	0.25390	0.125	B	0.13407	0.009	T	0.05582	-1.0876	10	0.19590	T	0.45	-47.3476	20.6593	0.99626	0.0:1.0:0.0:0.0	.	346	Q9H6B1	Z385D_HUMAN	T	346	ENSP00000281523:A346T	ENSP00000281523:A346T	A	-	1	0	ZNF385D	21437862	0.998000	0.40836	0.210000	0.23637	0.083000	0.17756	3.858000	0.55979	2.887000	0.99086	0.650000	0.86243	GCA		TCGA-IB-7890-01A-12D-2201-08	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	1	0	1	20	88	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.999994	18	81	0	32	2		0	0	0	0	32	2	-20.000000	1	1	121336	6	35	1	1	2	3	1.763537	0	0.360000	2.800000	0.364575	0.990000	0.670000	1.000000	1.000000	0.943939	0.990000	1	0.840000	1.000000
GLB1	2720	broad.mit.edu	37	3	33038656	33038656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr3:33038656C>T	ENST00000399402.3	-	16	1956	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	GLB1_ENST00000445488.2_Missense_Mutation_p.V687M|GLB1_ENST00000307363.5_Missense_Mutation_p.V639M|GLB1_ENST00000307377.8_Missense_Mutation_p.V508M	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1			21		Melanoma(143;0.104)			GGCCTGTCCACGAACGTCACA	0.527000																								0							SO:0001583	missense			ENST00000399402.3	1	1	hg19	CCDS43062.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241095	0.39598	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83	5.44	4.54	0.55810	Galactose-binding domain-like (1);	0.238643	0.42964	D	0.000639	D	0.94971	0.8373	M	0.67700	2.07	0.37730	D	0.925223	D;D;D;D	0.64830	0.987;0.994;0.987;0.987	P;P;P;P	0.46299	0.46;0.511;0.46;0.46	D	0.95168	0.8287	10	0.48119	T	0.1	-10.5338	15.5983	0.76606	0.0:0.8614:0.1386:0.0	.	639;508;639;687	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	M	609;639;687;508	ENSP00000382333:V609M;ENSP00000306920:V639M;ENSP00000393377:V687M;ENSP00000305920:V508M	ENSP00000306920:V639M	V	-	1	0	GLB1	33013660	0.991000	0.36638	0.794000	0.32065	0.166000	0.22503	2.596000	0.46205	1.253000	0.44018	0.555000	0.69702	GTG		TCGA-IB-7890-01A-12D-2201-08	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000341570.2	0	0	1	74	390	0	136	1	1	23	119	0	136	2		0	0	0	0	0	2	1	1.000000	73	380	0	133	2		0	0	0	0	136	2	-20.000000	1	1	0	0		1	1	2	3	1.763537	0	0.360000	2.800000	0.364575	0.890000	0.710000	1.000000	1.000000	0.892979	0.890000	1	0.790000	1.000000
COL25A1	84570	broad.mit.edu	37	4	109784536	109784536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:109784536C>T	ENST00000399132.1	-	21	1621	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	COL25A1_ENST00000399126.1_Missense_Mutation_p.R364Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.R360Q	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1			49		Hepatocellular(203;0.217)			TGCTTCCCCCCGTTCACCCTG	0.502000																								0							SO:0001583	missense			ENST00000399132.1	1	1	hg19	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472391	0.63737	0.0	1.22E-4	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;T;D	0.93547	-3.24;2.3;-3.24	5.52	4.69	0.59074	.	0.121454	0.50627	D	0.000106	D	0.94019	0.8084	L	0.33293	1	0.42993	D	0.994495	D;D	0.76494	0.999;0.998	D;D	0.79108	0.975;0.992	D	0.93272	0.6652	9	.	.	.	-7.1172	14.6461	0.68762	0.0:0.9299:0.0:0.0701	.	364;364	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	Q	364;366;345;360;364;294	ENSP00000382083:R364Q;ENSP00000382078:R360Q;ENSP00000382077:R364Q	.	R	-	2	0	COL25A1	110003985	0.997000	0.39634	0.997000	0.53966	0.955000	0.61496	2.451000	0.44952	1.332000	0.45431	-0.128000	0.14901	CGG		TCGA-IB-7890-01A-12D-2201-08	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	1	0	1	60	178	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1.000000	57	175	0	29	2		0	0	0	0	29	2	-4.293586	1	1	120798	13	40	1	1	2	3	2.062099	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
AGPAT9	84803	broad.mit.edu	37	4	84508424	84508424	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr4:84508424A>T	ENST00000395226.2	+	5	714	c.496A>T	c.(496-498)Att>Ttt	p.I166F	AGPAT9_ENST00000264409.4_Missense_Mutation_p.I166F	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9			13		Hepatocellular(203;0.114)			CTTGGCTTTCATTGGGATCAG	0.398000																								0							SO:0001583	missense			ENST00000395226.2	1	1	hg19	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739003	0.49045	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.49432	0.78;0.78	5.55	-1.01	0.10169	.	0.147943	0.64402	N	0.000012	T	0.30572	0.0769	L	0.46670	1.46	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.04693	-1.0933	10	0.21540	T	0.41	-12.882	4.0871	0.09951	0.6087:0.1039:0.0645:0.223	.	166	Q53EU6	GPAT3_HUMAN	F	166	ENSP00000378651:I166F;ENSP00000264409:I166F	ENSP00000264409:I166F	I	+	1	0	AGPAT9	84727448	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.057000	0.64294	0.038000	0.15604	0.528000	0.53228	ATT		TCGA-IB-7890-01A-12D-2201-08	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	1	0	1	182	501	0	126	1	4.032278e-01	3	2	0	126	2		0	0	0	0	0	2	1	1.000000	182	489	0	125	2		0	0	0	0	126	2	-20.000000	1	1	0	0		1	1	2	3	2.062099	1	0.360000	2.800000	0.457627	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PCDHGA6	56109	broad.mit.edu	37	5	140755877	140755877	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:140755877G>A	ENST00000517434.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	p.V743M(1)		2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTTTGTGGGCGTGGAAGGGGT	0.612000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000517434.1	1	1	hg19	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	7.493	0.651010	0.14516	.	.	ENSG00000253731	ENST00000517434	T	0.50548	0.74	5.15	-0.377	0.12501	.	0.398307	0.14856	N	0.294369	T	0.45115	0.1326	M	0.81497	2.545	0.20638	N	0.99987	B;B	0.30482	0.095;0.281	B;B	0.24394	0.053;0.043	T	0.40997	-0.9533	10	0.51188	T	0.08	.	9.8004	0.40761	0.4966:0.0:0.5034:0.0	.	743;743	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	M	743	ENSP00000429601:V743M	ENSP00000429601:V743M	V	+	1	0	PCDHGA6	140736061	0.000000	0.05858	0.756000	0.31282	0.025000	0.11179	-0.171000	0.09883	0.011000	0.14865	-0.812000	0.03155	GTG		TCGA-IB-7890-01A-12D-2201-08	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	1	0	1	58	360	0	146	0	9.824316e-02	0	4	0	146	2		0	0	0	0	0	2	1	1.000000	56	348	0	140	2		0	0	0	0	146	2	-19.999990	1	1	0	0		1	1	2	3	2.041096	1	0.360000	2.800000	0.452617	0.900000	0.700000	1.000000	1.000000	0.901044	0.900000	1	0.790000	1.000000
GPR151	134391	broad.mit.edu	37	5	145895652	145895652	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:145895652A>C	ENST00000311104.2	-	1	101	c.25T>G	c.(25-27)Tct>Gct	p.S9A		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151			14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTGGAGTTAGAGTCTGCAAAG	0.498000													Pancreas(78;420 1386 18535 37114 49710)											0							SO:0001583	missense			ENST00000311104.2	1	1	hg19	CCDS34266.1	.	.	.	.	.	.	.	.	.	.	A	2.160	-0.392320	0.04932	.	.	ENSG00000173250	ENST00000311104	T	0.37915	1.17	5.9	3.48	0.39840	.	0.650871	0.16005	N	0.234105	T	0.25082	0.0609	L	0.54323	1.7	0.21967	N	0.999449	B	0.06786	0.001	B	0.06405	0.002	T	0.36529	-0.9744	10	0.07482	T	0.82	.	2.9555	0.05875	0.6321:0.1483:0.0774:0.1422	.	9	Q8TDV0	GP151_HUMAN	A	9	ENSP00000308733:S9A	ENSP00000308733:S9A	S	-	1	0	GPR151	145875845	0.992000	0.36948	0.959000	0.39883	0.576000	0.36127	1.388000	0.34442	0.465000	0.27167	-0.353000	0.07706	TCT		TCGA-IB-7890-01A-12D-2201-08	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	1	0	1	96	604	0	165		0	0	0	0	165	2		0	0	0	0	0	2	1	1.000000	95	599	0	164	2		0	0	0	0	165	2	-20.000000	1	1	0	0		1	1	2	3	2.041096	1	0.360000	2.800000	0.452617	0.890000	0.730000	1.000000	1.000000	0.896039	0.890000	1	0.800000	1.000000
GPR98	84059	broad.mit.edu	37	5	89977223	89977223	+	Silent	SNP	T	T	C			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr5:89977223T>C	ENST00000405460.2	+	27	5712	c.5616T>C	c.(5614-5616)ttT>ttC	p.F1872F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98			269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)			AGTCACTCTTTGTCAGTGGAA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000405460.2	1	1	hg19	CCDS47246.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	1	0	1	28	132	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1.000000	28	128	0	22	2		0	0	0	0	22	2	-17.103450	1	1	0	0		1	0	2	2	1.734642	1	0.360000	2.800000	0.360000	0.970000	0.670000	1.000000	1.000000	0.925406	0.970000	1	0.810000	1.000000
GCM2	9247	broad.mit.edu	37	6	10882008	10882008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:10882008G>A	ENST00000379491.4	-	1	166	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	RP11-637O19.2_ENST00000436249.3_RNA|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)			30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)			ACCGCTTCCTGCACCGCGGCC	0.602000																								0							SO:0001587	stop_gained			ENST00000379491.4	0	1	hg19	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409039	0.96072	.	.	ENSG00000124827	ENST00000379491	.	.	.	5.23	3.37	0.38596	.	0.740013	0.12306	N	0.480643	.	.	.	.	.	.	0.22552	N	0.998994	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	0.1498	8.3322	0.32193	0.0:0.401:0.476:0.123	.	.	.	.	X	7	.	ENSP00000368805:Q7X	Q	-	1	0	GCM2	10989994	0.000000	0.05858	0.008000	0.14137	0.053000	0.15095	0.153000	0.16323	1.155000	0.42497	0.561000	0.74099	CAG		TCGA-IB-7890-01A-12D-2201-08	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1	1	0	0	35	170	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	1.000000	34	167	0	62	2		0	0	0	0	63	2	-20.000000	1	1	0	0		1	1	2	3	1.757599	0	0.360000	2.800000	0.362296	0.950000	0.680000	1.000000	1.000000	0.920909	0.950000	1	0.810000	1.000000
NRSN1	140767	broad.mit.edu	37	6	24146060	24146060	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:24146060C>T	ENST00000378491.4	+	4	775	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_080723.4	NP_542454.3			neurensin 1	p.I158I(1)		22					AAGAACGAATCGCAGACATCA	0.498000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000378491.4	1	1	hg19	CCDS4549.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	1	0	1	47	245	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1.000000	47	243	0	88	2		0	0	0	0	88	2	-3.097887	1	1	121412	3	32	1	1	2	3	1.757599	0	0.360000	2.800000	0.362296	0.890000	0.670000	1.000000	1.000000	0.890551	0.890000	1	0.780000	1.000000
SRPK1	6732	broad.mit.edu	37	6	35810348	35810348	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr6:35810348C>T	ENST00000373825.2	-	14	1939	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	SRPK1_ENST00000373822.1_Missense_Mutation_p.E444K|SRPK1_ENST00000423325.2_Missense_Mutation_p.E536K					SRSF protein kinase 1	p.E551Q(1)		21					GAATGAGGTTCAAACAAATAG	0.418000													NSCLC(31;67 978 16289 24856 26454)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000373825.2	1	1	hg19	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529797	0.96446	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.58764	0.2145	N	0.11154	0.105	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.991	T	0.70425	-0.4875	9	0.87932	D	0	-17.1778	19.0463	0.93020	0.0:1.0:0.0:0.0	.	536;552	B4DS61;Q96SB4	.;SRPK1_HUMAN	K	552;568;536;444	ENSP00000362931:E552K;ENSP00000354674:E568K;ENSP00000391069:E536K;ENSP00000362928:E444K	ENSP00000354674:E568K	E	-	1	0	SRPK1	35918326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.442000	0.80503	2.572000	0.86782	0.491000	0.48974	GAA		TCGA-IB-7890-01A-12D-2201-08	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	1	0	1	28	130	0	32	1	9.990422e-01	21	33	0	32	2		0	0	0	0	0	2	1	1.000000	27	125	0	31	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	1	2	3	1.779925	0	0.360000	2.800000	0.366838	0.990000	0.690000	1.000000	1.000000	0.939225	0.990000	1	0.830000	1.000000
TRRAP	8295	broad.mit.edu	37	7	98609827	98609827	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr7:98609827T>A	ENST00000359863.4	+	72	11638	c.11429T>A	c.(11428-11430)cTg>cAg	p.L3810Q	AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.L3799Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.L3781Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein			176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)		CTGGTGTCCCTGGTTCAGAAA	0.597000																								0							SO:0001583	missense			ENST00000359863.4	1	1	hg19	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.30|14.30	2.495074|2.495074	0.44352|0.44352	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	D;D|.	0.84298|.	-1.83;-1.83|.	5.44|5.44	4.27|4.27	0.50696|0.50696	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.62024|0.62024	0.2394|0.2394	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P;D|.	0.60160|.	0.987;0.956;0.978|.	P;P;P|.	0.62089|.	0.898;0.601;0.737|.	T|T	0.58323|0.58323	-0.7656|-0.7656	10|5	0.18710|.	T|.	0.47|.	.|.	12.5371|12.5371	0.56147|0.56147	0.0:0.0:0.1395:0.8605|0.0:0.0:0.1395:0.8605	.|.	3781;3538;3810|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|R	3810;3781;3798|3539	ENSP00000352925:L3810Q;ENSP00000347733:L3781Q|.	ENSP00000347733:L3781Q|.	L|W	+|+	2|1	0|0	TRRAP|TRRAP	98447763|98447763	1.000000|1.000000	0.71417|0.71417	0.167000|0.167000	0.22817|0.22817	0.021000|0.021000	0.10359|0.10359	7.690000|7.690000	0.84178|0.84178	0.881000|0.881000	0.35993|0.35993	-0.313000|-0.313000	0.08912|0.08912	CTG|TGG		TCGA-IB-7890-01A-12D-2201-08	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	1	0	0	8	185	0	59	1	5.700693e-01	3	40	0	59	2		0	0	0	0	0	2	1	0.988668	8	180	0	57	2		0	0	0	0	59	2	-10.748270	1	1	0	0		1	1	2	3	2.079462	1	0.360000	2.800000	0.457627	0.280000	0.130000	0.500000	0.270000	0.300712	0.280000	0	0.190000	0.390000
FAM83H	286077	broad.mit.edu	37	8	144808660	144808660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144808660G>A	ENST00000388913.3	-	5	3096	c.2971C>T	c.(2971-2973)Cag>Tag	p.Q991*		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H			21	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)		CCGTTCTCCTGCGGCACTGGG	0.692000																								0							SO:0001587	stop_gained			ENST00000388913.3	0	1	hg19	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	25.1	4.597837	0.87055	.	.	ENSG00000180921	ENST00000388913	.	.	.	5.01	5.01	0.66863	.	2.505490	0.02148	N	0.057769	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2957	0.49277	0.0:0.0:0.7074:0.2926	.	.	.	.	X	991	.	ENSP00000373565:Q991X	Q	-	1	0	FAM83H	144880648	0.998000	0.40836	0.913000	0.36048	0.106000	0.19336	2.042000	0.41222	2.334000	0.79466	0.550000	0.68814	CAG		TCGA-IB-7890-01A-12D-2201-08	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	1	0	0	29	103	0	35	1	9.691176e-01	7	16	0	35	2		0	0	0	0	0	2	1	1.000000	29	101	0	35	2		0	0	0	0	35	2	-20.000000	1	1	0	0		1	2	3	5	2.664308	1	0.360000	2.800000	0.582953	0.990000	0.990000	1.000000	1.000000	0.999981	0.990000	1	0.990000	1.000000
EPPK1	83481	broad.mit.edu	37	8	144945204	144945204	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:144945204C>T	ENST00000525985.1	-	2	2289	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		GCCACGTCCACGGGCACGCGG	0.657000																								0							SO:0001583	missense			ENST00000525985.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	20.9	4.058913	0.76074	.	.	ENSG00000227184	ENST00000525985	T	0.77877	-1.13	5.06	5.06	0.68205	.	.	.	.	.	D	0.89298	0.6675	M	0.87971	2.92	0.32551	N	0.532326	D	0.89917	1.0	D	0.75484	0.986	D	0.91472	0.5197	9	0.59425	D	0.04	.	15.9742	0.80049	0.0:1.0:0.0:0.0	.	740	E9PPU0	.	M	740	ENSP00000436337:V740M	ENSP00000436337:V740M	V	-	1	0	EPPK1	145017192	0.723000	0.28027	1.000000	0.80357	0.892000	0.51952	1.471000	0.35365	2.643000	0.89663	0.655000	0.94253	GTG		TCGA-IB-7890-01A-12D-2201-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0	76	619	0	168	0	9.761841e-02	1	4	0	168	2		0	0	0	0	0	2	1	1.000000	71	574	0	174	2		0	0	0	0	168	2	-19.999990	1	1	120830	2	37	1	3	3	6	2.621629	1	0.360000	2.800000	0.574468	0.940000	0.730000	1.000000	1.000000	0.927141	0.940000	1	0.830000	1.000000
GPR124	25960	broad.mit.edu	37	8	37692836	37692836	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:37692836G>A	ENST00000412232.2	+	12	1766	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124			37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		ACCTGAGCCCGAGCCCCCAGC	0.687000																								0							SO:0001583	missense			ENST00000412232.2	1	1	hg19	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481400	0.84747	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57907	0.37	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.55545	0.1927	N	0.22421	0.69	0.58432	D	0.999996	D	0.76494	0.999	P	0.57679	0.825	T	0.53920	-0.8370	10	0.34782	T	0.22	-25.1986	18.6353	0.91376	0.0:0.0:1.0:0.0	.	585	Q96PE1	GP124_HUMAN	K	578;585	ENSP00000406367:E585K	ENSP00000406367:E585K	E	+	1	0	GPR124	37811994	1.000000	0.71417	0.565000	0.28409	0.052000	0.14988	7.123000	0.77176	2.507000	0.84556	0.655000	0.94253	GAG		TCGA-IB-7890-01A-12D-2201-08	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2	1	0	1	17	101	0	61	0	9.999996e-01	0	176	0	61	2		0	0	0	0	0	2	1	0.999974	16	100	0	61	2		0	0	0	0	61	2	-20.000000	1	1	121396	2	33	1	0	2	2	1.817945	1	0.360000	2.800000	0.360000	0.800000	0.490000	1.000000	1.000000	0.804000	0.800000	0	0.630000	0.990000
PRKDC	5591	broad.mit.edu	37	8	48790345	48790345	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:48790345C>T	ENST00000314191.2	-	41	5356	c.5300G>A	c.(5299-5301)cGg>cAg	p.R1767Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.R1767Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide			147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)		Caffeine(DB00201)	CTGCTGTTCCCGACAAAGAAC	0.383000								Non-homologous end-joining					Esophageal Squamous(79;1091 1253 12329 31680 40677)											0							SO:0001583	missense			ENST00000314191.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	31	5.098326	0.94197	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.63580	-0.05;-0.05	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.83324	-0.0016	10	0.87932	D	0	.	19.7092	0.96085	0.0:1.0:0.0:0.0	.	1767;1768	E7EUY0;P78527	.;PRKDC_HUMAN	Q	1767	ENSP00000313420:R1767Q;ENSP00000345182:R1767Q	ENSP00000313420:R1767Q	R	-	2	0	PRKDC	48952898	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	5.203000	0.65174	2.664000	0.90586	0.585000	0.79938	CGG		TCGA-IB-7890-01A-12D-2201-08	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	48	796	0	102	1	9.371534e-01	5	73	0	102	2		0	0	0	0	0	2	1	1.000000	47	787	0	102	2		0	0	0	0	102	2	-2.135519	0	1	0	0		1	2	3	5	2.664308	1	0.360000	2.800000	0.582953	0.480000	0.350000	0.640000	0.500000	0.493380	0.480000	0	0.410000	0.560000
PXDNL	137902	broad.mit.edu	37	8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like			48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)			CATGCAGGGCGCGTGGGTGCC	0.682000																								0							SO:0001583	missense			ENST00000356297.4	1	1	hg19	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	7.521	0.656623	0.14580	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.49	0.493	0.16878	.	0.753446	0.11213	N	0.587551	T	0.38746	0.1052	N	0.11756	0.17	0.09310	N	1	P	0.37398	0.593	B	0.29862	0.108	T	0.15009	-1.0452	10	0.30854	T	0.27	.	4.9674	0.14098	0.2166:0.1744:0.609:0.0	.	857	A1KZ92	PXDNL_HUMAN	V	857	ENSP00000348645:A857V;ENSP00000444865:A857V	ENSP00000348645:A857V	A	-	2	0	PXDNL	52484167	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	3.338000	0.52128	-0.162000	0.10964	-1.087000	0.02190	GCG		TCGA-IB-7890-01A-12D-2201-08	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	1	0	0	66	125	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	1.000000	66	121	0	31	2		0	0	0	0	33	2	-20.000000	1	1	0	0		1	2	3	5	2.664308	1	0.360000	2.800000	0.582953	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
COL27A1	85301	broad.mit.edu	37	9	117062960	117062960	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:117062960G>A	ENST00000356083.3	+	51	5085	c.4694G>A	c.(4693-4695)gGc>gAc	p.G1565D		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1			80					GGGCCACCTGGCTTGATGGTG	0.612000																								0							SO:0001583	missense			ENST00000356083.3	1	1	hg19	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667078	0.67814	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99353	-5.77	5.4	5.4	0.78164	.	.	.	.	.	D	0.99694	0.9884	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97360	0.9969	9	0.87932	D	0	.	17.0516	0.86520	0.0:0.0:1.0:0.0	.	1565	Q8IZC6	CORA1_HUMAN	D	1565	ENSP00000348385:G1565D	ENSP00000348385:G1565D	G	+	2	0	COL27A1	116102781	1.000000	0.71417	0.998000	0.56505	0.120000	0.20174	8.906000	0.92626	2.711000	0.92665	0.655000	0.94253	GGC		TCGA-IB-7890-01A-12D-2201-08	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	1	30	155	0	54	1	8.340496e-01	2	17	0	54	2		0	0	0	0	0	2	1	1.000000	29	152	0	54	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	1	2	3	2.067747	1	0.360000	2.800000	0.457627	0.990000	0.750000	1.000000	1.000000	0.963554	0.990000	1	0.890000	1.000000
FBXW5	54461	broad.mit.edu	37	9	139838442	139838442	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:139838442C>G	ENST00000325285.3	-	2	173	c.94G>C	c.(94-96)Gtg>Ctg	p.V32L	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5			12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)		TGGCGGCACACCAGCCCGGCG	0.701000																								0							SO:0001583	missense			ENST00000325285.3	1	1	hg19	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.867242	0.51588	.	.	ENSG00000159069	ENST00000325285;ENST00000428398;ENST00000443788	T;T;T	0.54479	0.57;0.57;0.57	4.02	3.12	0.35913	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.216848	0.40064	N	0.001182	T	0.60573	0.2279	M	0.91249	3.19	0.26388	N	0.976624	B	0.27286	0.174	B	0.33846	0.171	T	0.57476	-0.7805	10	0.41790	T	0.15	-9.6575	8.9065	0.35526	0.0:0.8956:0.0:0.1044	.	32	Q969U6	FBXW5_HUMAN	L	32	ENSP00000313034:V32L;ENSP00000404829:V32L;ENSP00000394011:V32L	ENSP00000313034:V32L	V	-	1	0	FBXW5	138958263	1.000000	0.71417	0.993000	0.49108	0.588000	0.36517	3.941000	0.56607	0.902000	0.36520	0.479000	0.44913	GTG		TCGA-IB-7890-01A-12D-2201-08	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	1	0	0	7	27	0	21	1	9.254406e-01	7	14	0	21	2		0	0	0	0	0	2	1	0.982807	6	27	0	20	2		0	0	0	0	21	2	-16.160310	1	1	0	0		1	1	2	3	2.047008	1	0.360000	2.800000	0.457627	0.990000	0.650000	1.000000	1.000000	0.968432	0.990000	1	0.960000	1.000000
C9orf89	84270	broad.mit.edu	37	9	95875280	95875280	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chr9:95875280A>G	ENST00000375464.2	+	6	571	c.443A>G	c.(442-444)aAg>aGg	p.K148R	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89			7					CTAGACCCCAAGGGCCTGCCA	0.602000																								0							SO:0001583	missense			ENST00000375464.2	0	1	hg19	CCDS6702.2	.	.	.	.	.	.	.	.	.	.	A	7.776	0.708538	0.15239	.	.	ENSG00000165233	ENST00000375464	.	.	.	4.22	0.545	0.17190	.	40.080900	0.00166	N	0.000000	T	0.27594	0.0678	.	.	.	0.24896	N	0.992137	B	0.14805	0.011	B	0.14578	0.011	T	0.11616	-1.0580	8	0.30854	T	0.27	.	3.211	0.06682	0.519:0.0:0.3042:0.1768	.	148	Q96LW7-2	.	R	148	.	ENSP00000364613:K148R	K	+	2	0	C9orf89	94915101	0.999000	0.42202	0.998000	0.56505	0.256000	0.26092	1.016000	0.29976	0.247000	0.21414	-0.411000	0.06167	AAG		TCGA-IB-7890-01A-12D-2201-08	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1	0	0	0	3	93	0	32	0	9.460907e-01	0	178	0	32	2		0	0	0	0	0	2	1	0.787846	2	87	0	32	2		0	0	0	0	32	2	-6.482320	1	0	121150	4	33	1	1	2	3	2.067131	1	0.360000	2.800000	0.455967	0.240000	0.060000	0.610000	0.210000	0.270673	0.240000	0	0.130000	0.390000
GUCY2F	2986	broad.mit.edu	37	X	108636151	108636151	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:108636151G>A	ENST00000218006.2	-	13	2849	c.2558C>T	c.(2557-2559)aCg>aTg	p.T853M		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal			67					AAGCTTTTCCGTTTTCTGTTT	0.383000																								0							SO:0001583	missense			ENST00000218006.2	1	1	hg19	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527147	0.64860	.	.	ENSG00000101890	ENST00000218006	D	0.90385	-2.66	4.25	3.36	0.38483	Haem NO binding associated (1);Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.108904	0.64402	D	0.000008	D	0.94473	0.8221	M	0.87097	2.86	0.58432	D	0.999998	D	0.65815	0.995	P	0.61874	0.895	D	0.94367	0.7592	10	0.87932	D	0	.	10.33	0.43816	0.0:0.0:0.8025:0.1975	.	853	P51841	GUC2F_HUMAN	M	853	ENSP00000218006:T853M	ENSP00000218006:T853M	T	-	2	0	GUCY2F	108522807	1.000000	0.71417	0.962000	0.40283	0.997000	0.91878	5.507000	0.66999	1.079000	0.41038	0.513000	0.50165	ACG		TCGA-IB-7890-01A-12D-2201-08	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	1	0	1	108	236	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	1.000000	103	233	1	90	14		0	0	0	0	92	2	-20.000000	1	1	121408	7	43	1	0	1	1			0.360000	2.800000	0.360000	0.860000	0.730000	0.980000	0.870000	0.865296	0.860000	1	0.790000	0.930000
AMOT	154796	broad.mit.edu	37	X	112058796	112058796	+	Silent	SNP	C	C	T			TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	p.Q394Q(1)		43					gctgctgctgctgttgttggt	0.582000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000524145.1	0	1	hg19	CCDS48154.1																																																																																				TCGA-IB-7890-01A-12D-2201-08	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	0	0	0	3	93	0	33	0	1.168132e-01	0	14	0	33	2		0	0	0	0	1	2	1	0.809253	3	92	0	33	2		0	0	0	0	33	2	-2.477502	0	1	0	0		1	0	1	1			0.360000	2.800000	0.360000	0.090000	0.020000	0.230000	0.090000	0.111291	0.090000	0	0.050000	0.160000
MAGEA3	4102	broad.mit.edu	37	X	151935450	151935450	+	Missense_Mutation	SNP	C	C	G	rs34645170		TCGA-IB-7890-01A-12D-2201-08	TCGA-IB-7890-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbc96e9-990e-4cc9-98c9-14fffe83ed87	e2f62463-40b9-41ef-9ffb-ad2fe036c920	g.chrX:151935450C>G	ENST00000393902.3	-	3	1284	c.717G>C	c.(715-717)ttG>ttC	p.L239F	MAGEA3_ENST00000370278.3_Missense_Mutation_p.L239F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3			15	Acute lymphoblastic leukemia(192;6.56e-05)				TGGGATCCCCCAAGATACTGT	0.537000																								0							SO:0001583	missense			ENST00000393902.3	0	1	hg19	CCDS14715.1	15	0.009041591320072333	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	13	0.017150395778364115	c	0.243	-1.012051	0.02095	2.61E-4	1.49E-4	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.04970	3.52;3.52	1.42	-2.84	0.05751	.	0.537671	0.21492	N	0.073674	T	0.00468	0.0015	N	0.00176	-1.92	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.39781	-0.9597	9	0.09843	T	0.71	.	2.2524	0.04047	0.4558:0.312:0.2323:0.0	rs34645170	239	P43357	MAGA3_HUMAN	F	239	ENSP00000359301:L239F;ENSP00000377480:L239F	ENSP00000359301:L239F	L	-	3	2	MAGEA3	151686106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.375000	0.02563	-0.539000	0.06273	-1.891000	0.00535	TTG		TCGA-IB-7890-01A-12D-2201-08	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	0	0	1	163	334	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1.000000	138	332	0	160	2		0	0	0	0	161	2	-3.318794	1	1	121202	21	45	1	0	1	1			0.360000	2.800000	0.360000	0.890000	0.790000	0.990000	0.910000	0.902064	0.890000	1	0.840000	0.960000
