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
LRIG3	121227	broad.mit.edu	37	12	59277344	59277344	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:59277344delA	ENST00000320743.3	-	11	1560	c.1274delT	c.(1273-1275)ttafs	p.L425fs	LRIG3_ENST00000379141.4_Frame_Shift_Del_p.L365fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3		LRIG3/ROS1(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)		ATTGCCTTGTAAAGACATGAT	0.383000			T	ROS1	NSCLC										Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0							SO:0001589	frameshift_variant			ENST00000320743.3	1	0	hg19	CCDS8960.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	1	0	0	36	199	0	58	1	9.983174e-01	6	51	0	58	2			0	0	0	0		1	0.959804	37	196	3	58	24	0	0	0	0	0	0		-20.000000	1	1	0	0		1	1	2	3	2.141350	0	0.460000	1.850000	0.469756	0.680000	4.900000e-01	1.000000	0.670000	0.707925	0.680000	0	0.580000	0.820000
SMAD4	4089	broad.mit.edu	37	18	48604697	48604698	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:48604697_48604698delAA	ENST00000342988.3	+	12	2057_2058	c.1519_1520delAA	c.(1519-1521)aaafs	p.K507fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.K411fs|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.K507fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.K507Q(2)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GAGTTTTGTGAAAGGCTGGGGA	0.470000																								40	Whole gene deletion(36)|Substitution - Missense(2)|Unknown(2)						SO:0001589	frameshift_variant			ENST00000342988.3	1	0	hg19	CCDS11950.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	51	236	0	75	1	1	36	128	0	75	2	1	1	198	844	0	1078	2	1	1.000000	53	229	1	76	14	0	0	0	0	0	0		-3.407717	1	1	0	0		1	0	1	1	1.626997	1	0.460000	1.850000	0.298701	0.580000	4.500000e-01	0.740000	0.590000	0.597468	0.580000	0	0.510000	0.670000
PYROXD2	84795	broad.mit.edu	37	10	100155147	100155147	+	Splice_Site	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:100155147C>A	ENST00000370575.4	-	7	736		c.e7+1		PYROXD2_ENST00000483923.1_Splice_Site|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2			12					GAACCACTCACCTTGGTAATG	0.577000																								0							SO:0001630	splice_region_variant			ENST00000370575.4	0	1	hg19	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654104	0.67472	.	.	ENSG00000119943	ENST00000370575	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4032	0.87466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PYROXD2	100145137	1.000000	0.71417	0.993000	0.49108	0.817000	0.46193	3.922000	0.56462	2.386000	0.81285	0.655000	0.94253	.		TCGA-IB-A5SS-01A-11D-A32N-08	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	0	0	0	7	858	0	246		0	0	0	0	246	2		0	0	0	0	0	2	1	0.980057	7	851	0	241	2		0	0	0	0	246	2	-3.308682	1	1	0	0		1	1	2	3	2.587009	1	0.460000	1.850000	0.560976	0.040000	0	0.090000	0.040000	0.047916	0.040000	0	0.010000	0.070000
SLC39A12	221074	broad.mit.edu	37	10	18292111	18292111	+	Missense_Mutation	SNP	G	G	A	rs142064736	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:18292111G>A	ENST00000377369.2	+	12	2044	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	SLC39A12_ENST00000377374.4_Missense_Mutation_p.V554M|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.V457M|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12_ENST00000377371.3_Missense_Mutation_p.V590M	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12			60					AGACTTTGCCGTGCTCTTAAG	0.393000																								0							SO:0001583	missense			ENST00000377369.2	1	0	hg19	CCDS44362.1	9	0.004120879120879121	8	0.016260162601626018	1	0.0027624309392265192	0	0.0	0	0.0	G	24.0	4.485154	0.84854	0.008171	2.33E-4	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	T	0.62378	-0.6867	10	0.52906	T	0.07	-15.6242	19.7024	0.96060	0.0:0.0:1.0:0.0	.	590;591;554	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	M	591;554;590;457;511	ENSP00000366586:V591M;ENSP00000366591:V554M;ENSP00000366588:V590M;ENSP00000440445:V457M	ENSP00000366586:V591M	V	+	1	0	SLC39A12	18332117	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.972000	0.88022	2.724000	0.93272	0.655000	0.94253	GTG		TCGA-IB-A5SS-01A-11D-A32N-08	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		1	0	1	68	314	0	109		0	0	0	0	109	2		0	0	0	0	0	2	1	1.000000	68	313	0	109	2		0	0	0	0	109	2	-3.465666	1	1	121412	108	55	1	0	0	0	2.071590	0	0.460000	1.850000	0.460000	0.770000	6.100000e-01	0.940000	0.770000	0.778631	0.770000	0	0.680000	0.860000
APBB1IP	54518	broad.mit.edu	37	10	26785284	26785284	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:26785284G>C	ENST00000376236.4	+	4	579	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42Q	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein			45					ACCCAGAGCTGAATTTAACTA	0.348000																								0							SO:0001583	missense			ENST00000376236.4	0	1	hg19	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618637	0.87460	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.35421	1.31	5.87	5.87	0.94306	.	0.086924	0.85682	D	0.000000	T	0.58438	0.2122	L	0.59436	1.845	0.52501	D	0.999951	P;D;D	0.89917	0.822;1.0;1.0	P;D;D	0.74023	0.651;0.946;0.982	T	0.55062	-0.8199	10	0.59425	D	0.04	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	42;42;42	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	Q	42	ENSP00000365411:E42Q	ENSP00000349237:E42Q	E	+	1	0	APBB1IP	26825290	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	6.107000	0.71517	2.941000	0.99782	0.655000	0.94253	GAA		TCGA-IB-A5SS-01A-11D-A32N-08	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	0	0	0	4	228	0	58	0	1.752873e-01	0	35	0	58	2		0	0	0	0	0	2	0	0.882774	0	226	0	57	2		0	0	0	0	58	2	-5.210345	1	0	0	0		1	0	0	0	2.071590	0	0.460000	1.850000	0.460000	0.080000	2.000000e-02	0.180000	0.080000	0.092395	0.080000	0	0.040000	0.130000
LRIT1	26103	broad.mit.edu	37	10	85991943	85991943	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:85991943C>T	ENST00000372105.3	-	4	1633	c.1612G>A	c.(1612-1614)Gtc>Atc	p.V538I		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	p.V538I(1)		23					AGGGCAATGACGATGGCCACA	0.532000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000372105.3	1	1	hg19	CCDS7373.1	.	.	.	.	.	.	.	.	.	.	C	9.192	1.026386	0.19512	.	.	ENSG00000148602	ENST00000372105	T	0.42513	0.97	5.62	2.5	0.30297	.	0.565141	0.18543	N	0.138159	T	0.24044	0.0582	L	0.41632	1.29	0.42532	D	0.993043	P	0.36633	0.562	B	0.29862	0.108	T	0.07770	-1.0755	10	0.07030	T	0.85	.	7.4198	0.27065	0.0:0.6491:0.0:0.3509	.	538	Q9P2V4	LRIT1_HUMAN	I	538	ENSP00000361177:V538I	ENSP00000361177:V538I	V	-	1	0	LRIT1	85981923	0.981000	0.34729	0.410000	0.26471	0.092000	0.18411	2.499000	0.45372	0.580000	0.29522	0.563000	0.77884	GTC		TCGA-IB-A5SS-01A-11D-A32N-08	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	1	0	1	30	163	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	30	160	0	44	2		0	0	0	0	44	2	-20.000000	1	1	121412	2	31	1	1	2	3	2.562086	1	0.460000	1.850000	0.560976	0.830000	5.800000e-01	1.000000	1.000000	0.835718	0.830000	0	0.700000	0.980000
SLIT1	6585	broad.mit.edu	37	10	98816094	98816094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr10:98816094G>A	ENST00000266058.4	-	13	1530	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R429W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)			78		Colorectal(252;0.162)			TGGATGGCCCGCAGGGAGGTG	0.622000																								0							SO:0001583	missense			ENST00000266058.4	0	1	hg19	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056410	0.76074	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.58210	1.8;1.8;0.35	4.91	1.86	0.25419	.	0.059286	0.64402	D	0.000002	T	0.65647	0.2711	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.922	T	0.66791	-0.5834	10	0.87932	D	0	.	13.5661	0.61819	0.0:0.0:0.593:0.407	.	439;429	E7EWQ8;O75093	.;SLIT1_HUMAN	W	429;439;429;422	ENSP00000266058:R429W;ENSP00000360109:R429W;ENSP00000315005:R422W	ENSP00000266058:R429W	R	-	1	2	SLIT1	98806084	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.433000	0.66520	0.194000	0.20326	0.561000	0.74099	CGG		TCGA-IB-A5SS-01A-11D-A32N-08	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	0	0	0	6	362	0	98	0	1.197704e-03	0	3	0	98	2		0	0	0	0	0	2	1	0.964396	6	359	0	96	2		0	0	0	0	98	2	-2.637073	1	1	121410	2	34	1	1	2	3	2.587009	1	0.460000	1.850000	0.560976	0.090000	3.000000e-02	0.180000	0.090000	0.100985	0.090000	0	0.050000	0.140000
SORL1	6653	broad.mit.edu	37	11	121428026	121428026	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:121428026G>A	ENST00000260197.7	+	19	2704	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing			91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)			TTGTCAGGTAGCTAATCCAGA	0.532000																								0							SO:0001583	missense			ENST00000260197.7	1	1	hg19	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994993	0.54041	.	.	ENSG00000137642	ENST00000260197	D	0.91124	-2.79	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.334487	0.31519	N	0.007520	D	0.91597	0.7345	M	0.74258	2.255	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	D	0.89616	0.3845	10	0.41790	T	0.15	.	18.9779	0.92745	0.0:0.0:1.0:0.0	.	859	Q92673	SORL_HUMAN	T	859	ENSP00000260197:A859T	ENSP00000260197:A859T	A	+	1	0	SORL1	120933236	0.998000	0.40836	0.999000	0.59377	0.998000	0.95712	3.282000	0.51693	2.487000	0.83934	0.655000	0.94253	GCT		TCGA-IB-A5SS-01A-11D-A32N-08	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	1	0	1	76	233	0	113	1	9.999614e-01	27	22	0	113	2		0	0	0	0	0	2	1	1.000000	76	229	0	110	2		0	0	0	0	113	2	-20.000000	1	1	0	0		1	1	2	3	2.087795	0	0.460000	1.850000	0.462473	0.990000	8.700000e-01	1.000000	1.000000	0.986102	0.990000	1	0.960000	1.000000
KCNC1	3746	broad.mit.edu	37	11	17757790	17757790	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:17757790G>A	ENST00000379472.3	+	1	271	c.241G>A	c.(241-243)Gac>Aac	p.D81N	KCNC1_ENST00000265969.6_Missense_Mutation_p.D81N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1			33				Dalfampridine(DB06637)	CTGCCCAGCCGACGTGTGCGG	0.662000																								0							SO:0001583	missense			ENST00000379472.3	0	1	hg19	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422598	0.62622	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	T;T	0.76060	-0.99;-0.99	5.3	3.44	0.39384	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.099935	0.64402	N	0.000002	T	0.57873	0.2083	L	0.27975	0.815	0.80722	D	1	B;P	0.42375	0.246;0.778	B;B	0.39503	0.052;0.301	T	0.50898	-0.8773	10	0.11794	T	0.64	.	11.4045	0.49889	0.1469:0.0:0.8531:0.0	.	81;81	Q3KNS8;P48547	.;KCNC1_HUMAN	N	81	ENSP00000265969:D81N;ENSP00000368785:D81N	ENSP00000265969:D81N	D	+	1	0	KCNC1	17714366	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.757000	0.74924	0.629000	0.30376	0.491000	0.48974	GAC		TCGA-IB-A5SS-01A-11D-A32N-08	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	0	0	0	5	240	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.934743	2	238	0	61	2		0	0	0	0	61	2	-6.350677	1	0	0	0		1	1	2	3	2.076771	0	0.460000	1.850000	0.461239	0.090000	3.000000e-02	0.200000	0.090000	0.105360	0.090000	0	0.050000	0.150000
KIF18A	81930	broad.mit.edu	37	11	28080600	28080600	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr11:28080600C>G	ENST00000263181.6	-	13	2111	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	MIR610_ENST00000385139.1_RNA	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A			36					TCCTCTCTACCAAATGTTCGA	0.408000																								0							SO:0001583	missense			ENST00000263181.6	0	1	hg19	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524458	0.44969	.	.	ENSG00000121621	ENST00000263181	T	0.77098	-1.07	5.62	0.802	0.18686	.	0.070738	0.56097	D	0.000026	D	0.84215	0.5423	M	0.70275	2.135	0.46521	D	0.999083	D	0.89917	1.0	D	0.73380	0.98	T	0.81701	-0.0813	10	0.51188	T	0.08	.	10.6652	0.45726	0.0:0.2739:0.0:0.7261	.	607	Q8NI77	KI18A_HUMAN	F	607	ENSP00000263181:L607F	ENSP00000263181:L607F	L	-	3	2	KIF18A	28037176	0.986000	0.35501	0.989000	0.46669	0.381000	0.30169	0.007000	0.13174	-0.080000	0.12685	-0.229000	0.12294	TTG		TCGA-IB-A5SS-01A-11D-A32N-08	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3	0	0	0	9	522	0	136	0	2.183688e-02	0	12	0	136	2		0	0	0	0	0	2	1	0.993828	9	513	0	135	2		0	0	0	0	136	2	-1.977695	0	1	0	0		1	1	2	3	2.076771	0	0.460000	1.850000	0.461239	0.070000	3.000000e-02	0.140000	0.080000	0.081580	0.070000	0	0.050000	0.110000
NOS1	4842	broad.mit.edu	37	12	117662845	117662845	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:117662845G>A	ENST00000338101.4	-	25	3908	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	NOS1_ENST00000317775.6_Missense_Mutation_p.R1268W|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)			117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TCAAATTGCCGCTGTTGCCAG	0.612000													Esophageal Squamous(162;1748 2599 51982 52956)											0							SO:0001583	missense			ENST00000338101.4	1	1	hg19	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874204	0.72180	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	D;D	0.85258	-1.96;-1.96	4.93	4.0	0.46444	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.93680	0.7981	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94520	0.7726	10	0.66056	D	0.02	-31.3949	13.4871	0.61373	0.0:0.0:0.731:0.269	.	1268	P29475	NOS1_HUMAN	W	1163;1268;1302	ENSP00000320758:R1268W;ENSP00000337459:R1302W	ENSP00000320758:R1268W	R	-	1	2	NOS1	116147228	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.995000	0.49441	2.555000	0.86185	0.561000	0.74099	CGG		TCGA-IB-A5SS-01A-11D-A32N-08	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1	189	383	0	295		0	0	0	0	295	2		0	0	0	0	0	2	1	1.000000	186	379	0	291	2		0	0	0	0	295	2	-20.000000	1	1	0	0		1	0	1	1	1.609290	1	0.460000	1.850000	0.298701	0.970000	9.100000e-01	1.000000	0.990000	0.976972	0.970000	1	0.940000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-A5SS-01A-11D-A32N-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	11	61	0	12	1	9.785979e-01	23	17	0	12	2	1	1	71	291	0	353	2	1	0.998677	11	60	0	12	2	1	1	1532	6472	0	12	2	-9.068718	1	1	121404	2	44	1	1	2	3	2.141350	0	0.460000	1.850000	0.469756	0.700000	3.800000e-01	1.000000	1.000000	0.719443	0.700000	0	0.520000	0.950000
DHRS2	10202	broad.mit.edu	37	14	24114078	24114078	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr14:24114078C>A	ENST00000250383.6	+	8	1194	c.718C>A	c.(718-720)Cat>Aat	p.H240N	DHRS2_ENST00000344777.7_Silent_p.I243I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2			14					CAAGGAACATCATCAGCTGCA	0.512000																								0							SO:0001583	missense			ENST00000250383.6	1	1	hg19	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.123|8.123	0.781271|0.781271	0.16120|0.16120	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000250383;ENST00000553600|ENST00000557535	D;T|.	0.87966|.	-2.32;1.02|.	5.48|5.48	-5.45|-5.45	0.02616|0.02616	.|.	.|.	.|.	.|.	.|.	T|.	0.18676|.	0.0448|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.32010|.	0.351|.	B|.	0.27380|.	0.079|.	T|.	0.27400|.	-1.0075|.	8|.	0.54805|.	T|.	0.06|.	.|.	3.8079|3.8079	0.08785|0.08785	0.1079:0.2756:0.1063:0.5103|0.1079:0.2756:0.1063:0.5103	.|.	240|.	D3DS54|.	.|.	N|X	240;140|139	ENSP00000250383:H240N;ENSP00000451485:H140N|.	ENSP00000250383:H240N|.	H|S	+|+	1|2	0|0	DHRS2|DHRS2	23183918|23183918	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.335000|-1.335000	0.02662|0.02662	-1.100000|-1.100000	0.03030|0.03030	-1.098000|-1.098000	0.02139|0.02139	CAT|TCA		TCGA-IB-A5SS-01A-11D-A32N-08	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	1	0	1	39	186	0	85	1	9.862541e-01	9	26	0	85	2		0	0	0	0	0	2	1	1.000000	39	184	0	84	2		0	0	0	0	85	2	-19.993090	1	1	0	0		1	0	1	1	2.065582	0	0.460000	1.850000	0.458755	0.740000	5.500000e-01	0.970000	0.750000	0.759511	0.740000	0	0.640000	0.860000
ADAMTS17	170691	broad.mit.edu	37	15	100636613	100636613	+	Silent	SNP	G	G	A	rs141443664		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:100636613G>A	ENST00000268070.4	-	15	2190	c.2085C>T	c.(2083-2085)gaC>gaT	p.D695D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17			50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)		AGGTCTTGCCGTCCCCGCTGC	0.592000																								0							SO:0001819	synonymous_variant			ENST00000268070.4	0	1	hg19	CCDS10383.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	0	0	0	6	542	1	203		0	0	0	1	203	2		0	0	0	0	0	2	0	0.156723	7	534	1	201	11		0	0	0	1	203	2	-2.351779	0	1	121412	3	42	1	1	2	3	2.076387	0	0.460000	1.850000	0.461239	0.040000	1.000000e-02	0.110000	0.050000	0.055359	0.040000	0	0.020000	0.080000
NARG2	0	broad.mit.edu	37	15	60747571	60747571	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr15:60747571A>G	ENST00000261520.4	-	7	971	c.737T>C	c.(736-738)aTa>aCa	p.I246T	NARG2_ENST00000439632.1_Missense_Mutation_p.I109T|NARG2_ENST00000561114.1_Missense_Mutation_p.I246T	NM_024611.4	NP_078887.2						32					AATGGTAGCTATATCGTCCTT	0.333000																								0							SO:0001583	missense			ENST00000261520.4	1	1	hg19	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	A	1.299	-0.605421	0.03717	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	4.68	-1.88	0.07713	.	0.620823	0.16985	N	0.191552	T	0.16599	0.0399	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.09377	0.0;0.004	T	0.12016	-1.0564	9	0.32370	T	0.25	-0.2145	4.7993	0.13289	0.6043:0.0:0.211:0.1848	.	109;246	G3V0H6;Q659A1	.;NARG2_HUMAN	T	246;109	.	ENSP00000261520:I246T	I	-	2	0	NARG2	58534863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.076000	0.14712	-0.078000	0.12730	-0.313000	0.08912	ATA		TCGA-IB-A5SS-01A-11D-A32N-08	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	1	0	1	81	247	0	99	1	9.928747e-01	6	20	0	99	2		0	0	0	0	0	2	1	1.000000	80	246	0	99	2		0	0	0	0	99	2	-20.000000	1	1	0	0		1	1	2	3	2.092296	0	0.460000	1.850000	0.462473	0.990000	8.800000e-01	1.000000	1.000000	0.987882	0.990000	1	0.970000	1.000000
TSC2	7249	broad.mit.edu	37	16	2136297	2136297	+	Missense_Mutation	SNP	C	C	T	rs137854039		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:2136297C>T	ENST00000219476.3	+	37	5396	c.4766C>T	c.(4765-4767)cCg>cTg	p.P1589L	TSC2_ENST00000353929.4_Missense_Mutation_p.P1546L|TSC2_ENST00000439673.2_Missense_Mutation_p.P1486L|TSC2_ENST00000401874.2_Missense_Mutation_p.P1522L|TSC2_ENST00000350773.4_Missense_Mutation_p.P1566L|TSC2_ENST00000382538.6_Missense_Mutation_p.P1474L|TSC2_ENST00000568454.1_Missense_Mutation_p.P1533L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2			56		Hepatocellular(780;0.0202)			GACTGCCAGCCGGACAAGGTG	0.617000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis					yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		E, O	0							SO:0001583	missense	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ENST00000219476.3	1	1	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683119	0.88542	0.0	1.16E-4	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29	4.47	4.47	0.54385	Rap/ran-GAP (2);	0.062472	0.64402	D	0.000004	D	0.95114	0.8417	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.999;0.998;0.999;0.842;0.999;0.999;0.999	D	0.92958	0.6386	10	0.15499	T	0.54	-22.8344	17.3319	0.87267	0.0:1.0:0.0:0.0	.	1474;1486;1566;364;1545;1522;1589	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	L	1589;1523;1546;1486;1474;1566	ENSP00000219476:P1589L;ENSP00000248099:P1546L;ENSP00000399232:P1486L;ENSP00000371978:P1474L;ENSP00000344383:P1566L	ENSP00000219476:P1589L	P	+	2	0	TSC2	2076298	1.000000	0.71417	0.952000	0.39060	0.768000	0.43524	7.588000	0.82629	2.319000	0.78375	0.561000	0.74099	CCG		TCGA-IB-A5SS-01A-11D-A32N-08	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	1	0	1	66	107	0	91	1	1	26	68	0	91	2		0	0	0	0	0	2	1	1.000000	66	105	0	91	2		0	0	0	0	91	2	-20.000000	1	1	121206	1	29	1	0	1	1	1.633385	1	0.460000	1.850000	0.298701	0.970000	8.600000e-01	1.000000	0.990000	0.965478	0.970000	1	0.920000	1.000000
SCNN1G	6340	broad.mit.edu	37	16	23226527	23226527	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:23226527C>T	ENST00000300061.2	+	13	1830	c.1687C>T	c.(1687-1689)Cgc>Tgc	p.R563C	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit			34				Amiloride(DB00594)|Triamterene(DB00384)	TATCATTGCCCGCCGCCAGTG	0.587000																								0							SO:0001583	missense			ENST00000300061.2	1	1	hg19	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801858	0.50315	.	.	ENSG00000166828	ENST00000300061	T	0.73258	-0.73	5.22	4.26	0.50523	.	0.000000	0.64402	D	0.000014	T	0.66790	0.2825	N	0.08118	0	0.51482	D	0.999928	D	0.89917	1.0	D	0.85130	0.997	T	0.67601	-0.5629	10	0.38643	T	0.18	-20.3075	9.9973	0.41907	0.1562:0.6932:0.1505:0.0	.	563	P51170	SCNNG_HUMAN	C	563	ENSP00000300061:R563C	ENSP00000300061:R563C	R	+	1	0	SCNN1G	23134028	1.000000	0.71417	0.466000	0.27168	0.654000	0.38779	2.845000	0.48254	1.154000	0.42482	0.561000	0.74099	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	1	0	1	83	260	0	133	0	0	0	1	0	133	2		0	0	0	0	0	2	1	1.000000	83	260	0	130	2		0	0	0	0	133	2	-4.166446	1	1	0	0		1	0	1	1	2.066887	0	0.460000	1.850000	0.458755	0.990000	8.500000e-01	1.000000	1.000000	0.981389	0.990000	1	0.940000	1.000000
ATXN2L	11273	broad.mit.edu	37	16	28844418	28844418	+	Silent	SNP	T	T	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:28844418T>C	ENST00000336783.4	+	14	1865	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	ATXN2L_ENST00000325215.6_Silent_p.P566P|ATXN2L_ENST00000395547.2_Silent_p.P566P|ATXN2L_ENST00000382686.4_Silent_p.P566P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Silent_p.P572P|ATXN2L_ENST00000570200.1_Silent_p.P566P|ATXN2L_ENST00000340394.8_Silent_p.P566P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like			36					GCCTGGATCCTTTTCCTCCCC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000336783.4	0	1	hg19	CCDS10641.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	0	0	0	5	588	1	206	0	5.726435e-02	0	232	1	206	6		0	0	0	0	0	2	0	0.064273	5	576	1	204	12		0	0	0	1	206	2	-2.217963	0	1	0	0		1	0	0	0	2.072833	0	0.460000	1.850000	0.460000	0.030000	0	0.080000	0.040000	0.043431	0.030000	0	0.010000	0.060000
SEPHS2	22928	broad.mit.edu	37	16	30456111	30456111	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:30456111G>A	ENST00000478753.2	-	1	1391	c.938C>T	c.(937-939)gCg>gTg	p.A313V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.A313V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.A256V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2			10					ATCTGTGGCCGCATGGGCATT	0.448000													Esophageal Squamous(81;1142 1261 11202 24614 35697)											0							SO:0001583	missense			ENST00000478753.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.53	3.413384	0.62511	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.64991	-0.13;-0.13;-0.13	5.28	5.28	0.74379	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	H	0.94620	3.56	0.80722	D	1	P;P	0.49090	0.919;0.906	P;B	0.45343	0.477;0.2	D	0.84632	0.0690	10	0.87932	D	0	-10.0941	16.7892	0.85583	0.0:0.0:1.0:0.0	.	313;256	Q99611;F5H8F9	SPS2_HUMAN;.	V	313;256;264;313	ENSP00000418669:A313V;ENSP00000443601:A256V;ENSP00000426234:A313V	ENSP00000390233:A264V	A	-	2	0	SEPHS2	30363612	1.000000	0.71417	0.991000	0.47740	0.267000	0.26476	9.772000	0.98984	2.652000	0.90054	0.655000	0.94253	GCG		TCGA-IB-A5SS-01A-11D-A32N-08	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	0	0	0	5	358	0	132	0	7.514636e-01	0	188	0	132	2	0	5.147378e-01	0	633	3	586	10	1	0.936124	5	354	0	131	2		0	0	0	0	132	2	-2.199730	0	1	0	0		1	0	0	0	2.072833	0	0.460000	1.850000	0.460000	0.060000	1.000000e-02	0.130000	0.060000	0.071213	0.060000	0	0.030000	0.100000
NHLRC4	283948	broad.mit.edu	37	16	618370	618370	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr16:618370C>A	ENST00000424439.2	+	2	980	c.323C>A	c.(322-324)gCc>gAc	p.A108D	PIGQ_ENST00000470411.2_5'Flank|PIGQ_ENST00000026218.5_5'Flank|PIGQ_ENST00000321878.5_5'Flank|NHLRC4_ENST00000540585.1_Missense_Mutation_p.A108D|PIGQ_ENST00000409527.2_Intron			P0CG21	NHLC4_HUMAN	NHL repeat containing 4								GTGGCTGATGCCAAGGACAAC	0.667000																								0							SO:0001583	missense			ENST00000424439.2	0	1	hg19	CCDS45366.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341804	0.11069	.	.	ENSG00000257108	ENST00000424439;ENST00000540585	T;T	0.72282	-0.64;-0.64	4.16	1.95	0.26073	Six-bladed beta-propeller, TolB-like (1);	0.422812	0.16956	U	0.192698	T	0.65585	0.2705	L	0.46741	1.465	0.09310	N	1	P	0.51351	0.944	P	0.48524	0.58	T	0.55636	-0.8110	9	.	.	.	.	8.147	0.31117	0.1711:0.7326:0.0:0.0963	.	108	P0CG21	NHLC4_HUMAN	D	108	ENSP00000410858:A108D;ENSP00000442223:A108D	.	A	+	2	0	NHLRC4	558371	0.001000	0.12720	0.030000	0.17652	0.024000	0.10985	1.330000	0.33781	1.906000	0.55180	0.585000	0.79938	GCC		TCGA-IB-A5SS-01A-11D-A32N-08	NHLRC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397724.1	0	0	0	4	99	0	45	0	1.480101e-02	0	4	0	45	2		0	0	0	0	0	2	0	0.877122	0	97	0	44	2		0	0	0	0	45	2	-7.527087	1	0	0	0		1	0	1	1	1.633385	1	0.460000	1.850000	0.298701	0.140000	4.000000e-02	0.300000	0.130000	0.155814	0.140000	0	0.080000	0.220000
HAP1	9001	broad.mit.edu	37	17	39881075	39881075	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:39881075C>T	ENST00000310778.5	-	12	1903	c.1894G>A	c.(1894-1896)Gcc>Acc	p.A632T	JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.A555T|HAP1_ENST00000347901.4_Missense_Mutation_p.A580T|HAP1_ENST00000341193.5_Missense_Mutation_p.A563T			P54257	HAP1_HUMAN	huntingtin-associated protein 1			21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)		TGCCAGTTGGCCAGCTGCTGG	0.627000																								0							SO:0001583	missense			ENST00000310778.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.04	2.117571	0.37339	.	.	ENSG00000173805	ENST00000458656;ENST00000442364;ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T;T;T	0.44881	1.32;0.91;3.15;3.41;3.27;3.16	4.14	2.06	0.26882	.	0.560677	0.15052	N	0.283242	T	0.36138	0.0956	L	0.27053	0.805	0.09310	N	0.99999	P;D;D;D	0.56968	0.872;0.965;0.974;0.978	P;P;P;P	0.54270	0.578;0.546;0.747;0.563	T	0.10064	-1.0646	10	0.32370	T	0.25	-11.1038	4.8636	0.13596	0.219:0.6683:0.0:0.1127	.	555;563;580;632	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	T	87;49;555;632;580;563	ENSP00000404640:A87T;ENSP00000388981:A49T;ENSP00000377513:A555T;ENSP00000309392:A632T;ENSP00000334002:A580T;ENSP00000343170:A563T	ENSP00000309392:A632T	A	-	1	0	HAP1	37134601	0.215000	0.23574	0.948000	0.38648	0.014000	0.08584	-0.225000	0.09151	0.459000	0.27016	-0.350000	0.07774	GCC		TCGA-IB-A5SS-01A-11D-A32N-08	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	0	0	0	7	636	0	243	0	5.130543e-04	0	3	0	243	2		0	0	0	0	0	2	1	0.979453	7	625	0	239	2		0	0	0	0	243	2	-1.981559	0	1	121412	1	31	1	1	2	3	2.123027	0	0.460000	1.850000	0.467351	0.040000	1.000000e-02	1.000000	0.050000	0.099051	0.040000	0	0.030000	0.080000
CCR10	2826	broad.mit.edu	37	17	40832279	40832279	+	Silent	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:40832279G>C	ENST00000332438.4	-	2	400	c.381C>G	c.(379-381)ggC>ggG	p.G127G	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.3_ENST00000592440.1_RNA|CTD-3193K9.4_ENST00000593139.1_RNA|CNTNAP1_ENST00000264638.4_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10			3		Breast(137;0.000153)			GGAAGAGGAAGCCGGCGTGGA	0.706000																								0							SO:0001819	synonymous_variant			ENST00000332438.4	0	1	hg19	CCDS11435.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	0	0	0	5	22	0	13	0	2.005006e-01	0	4	0	13	2		0	0	0	0	0	2	1	0.944039	5	22	0	13	2		0	0	0	0	13	2	-12.799970	1	1	0	0		1	1	2	3	2.123027	0	0.460000	1.850000	0.467351	0.860000	3.500000e-01	1.000000	1.000000	0.808826	0.860000	1	0.560000	1.000000
ARMC7	79637	broad.mit.edu	37	17	73125037	73125037	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:73125037C>A	ENST00000245543.1	+	3	803	c.501C>A	c.(499-501)ttC>ttA	p.F167L	NT5C_ENST00000579082.1_5'Flank|ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	p.F167F(1)		9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		TGGAGGACTTCTGCTCCCCCC	0.701000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000245543.1	1	1	hg19	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969018	0.34754	.	.	ENSG00000125449	ENST00000245543	T	0.32272	1.46	5.18	4.22	0.49857	Armadillo-like helical (1);Armadillo-type fold (1);	0.478366	0.24633	N	0.036863	T	0.18923	0.0454	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	10	0.35671	T	0.21	.	10.8273	0.46640	0.0:0.7987:0.0:0.2013	.	167	Q9H6L4	ARMC7_HUMAN	L	167	ENSP00000245543:F167L	ENSP00000245543:F167L	F	+	3	2	ARMC7	70636632	1.000000	0.71417	0.968000	0.41197	0.367000	0.29736	2.074000	0.41529	1.338000	0.45544	-0.137000	0.14449	TTC		TCGA-IB-A5SS-01A-11D-A32N-08	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	1	0	1	18	78	0	23	1	9.911319e-01	10	27	0	23	2		0	0	0	0	0	2	1	0.999988	18	75	0	23	2		0	0	0	0	23	2	-20.000000	1	1	0	0		1	1	2	3	2.123027	0	0.460000	1.850000	0.467351	0.840000	5.300000e-01	1.000000	1.000000	0.833307	0.840000	0	0.670000	1.000000
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557000		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	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		TCGA-IB-A5SS-01A-11D-A32N-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	44	84	0	55	1	1	47	64	0	55	2	1	1	227	625	0	1237	2	1	1.000000	44	82	0	53	2		0	0	0	0	55	2	-7.257383	1	1	121412	2	36	1	0	1	1	1.638444	1	0.460000	1.850000	0.298701	0.940000	7.900000e-01	1.000000	0.990000	0.936562	0.940000	1	0.870000	0.990000
KDM6B	23135	broad.mit.edu	37	17	7752044	7752044	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr17:7752044G>A	ENST00000448097.2	+	11	2769	c.2438G>A	c.(2437-2439)gGa>gAa	p.G813E	KDM6B_ENST00000254846.5_Missense_Mutation_p.G813E			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B			37					GTGCTGGAGGGACAAAAGTAC	0.647000																								0							SO:0001583	missense			ENST00000448097.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.51	1.958268	0.34565	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.16897	2.31;2.31	4.54	4.54	0.55810	.	0.242138	0.31092	N	0.008272	T	0.22244	0.0536	N	0.19112	0.55	0.38701	D	0.952991	P;D	0.58268	0.816;0.982	B;P	0.55087	0.311;0.768	T	0.08229	-1.0732	10	0.87932	D	0	-5.6434	16.5716	0.84613	0.0:0.0:1.0:0.0	.	813;813	O15054;O15054-1	KDM6B_HUMAN;.	E	813	ENSP00000254846:G813E;ENSP00000412513:G813E	ENSP00000254846:G813E	G	+	2	0	KDM6B	7692769	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.418000	0.59828	2.526000	0.85167	0.462000	0.41574	GGA		TCGA-IB-A5SS-01A-11D-A32N-08	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	1	0	0	102	242	0	132	1	9.701730e-01	6	10	0	132	2		0	0	0	0	0	2	1	1.000000	101	239	0	132	2		0	0	0	0	132	2	-20.000000	1	1	0	0		1	0	1	1	1.638444	1	0.460000	1.850000	0.298701	0.930000	8.100000e-01	1.000000	0.990000	0.933991	0.930000	1	0.870000	0.980000
MC5R	4161	broad.mit.edu	37	18	13826098	13826098	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr18:13826098C>T	ENST00000324750.3	+	1	556	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor			41					CGCCTTTGTGCGCCACATTGA	0.522000																								0							SO:0001583	missense			ENST00000324750.3	1	1	hg19	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704257	0.48412	.	.	ENSG00000176136	ENST00000324750	T	0.20738	2.05	4.9	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.103679	0.64402	D	0.000005	T	0.33789	0.0875	L	0.39898	1.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.70716	0.97	T	0.02909	-1.1095	10	0.87932	D	0	.	10.9647	0.47406	0.1464:0.7129:0.1407:0.0	.	112	P33032	MC5R_HUMAN	C	112	ENSP00000318077:R112C	ENSP00000318077:R112C	R	+	1	0	MC5R	13816098	1.000000	0.71417	0.932000	0.37286	0.749000	0.42624	2.825000	0.48096	0.467000	0.27218	-0.384000	0.06662	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	1	0	1	65	124	1	95		0	0	0	1	95	2		0	0	0	0	0	2	1	1.000000	65	123	1	94	9		0	0	0	1	95	2	-9.132377	1	1	121412	2	31	1	0	1	1	1.626997	1	0.460000	1.850000	0.298701	0.950000	8.300000e-01	1.000000	0.990000	0.952839	0.950000	1	0.900000	0.990000
LSR	51599	broad.mit.edu	37	19	35753550	35753550	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:35753550G>A	ENST00000361790.3	+	5	1036	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000347609.4_Missense_Mutation_p.V256I|LSR_ENST00000602122.1_Missense_Mutation_p.V274I|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Missense_Mutation_p.V274I|LSR_ENST00000360798.3_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor			13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		CTGCTGCTACGTCAGGTGCCC	0.627000																								0							SO:0001583	missense			ENST00000361790.3	1	1	hg19	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862120	0.71949	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000347609	T;T;T	0.57107	0.42;0.42;0.42	4.74	4.74	0.60224	LISCH7 (1);	0.065915	0.64402	D	0.000014	T	0.57286	0.2043	L	0.34521	1.04	0.80722	D	1	D;D;D;P	0.76494	0.999;0.977;0.982;0.84	P;P;P;B	0.61070	0.883;0.525;0.562;0.344	T	0.52155	-0.8613	10	0.27785	T	0.31	-37.3992	15.256	0.73585	0.0:0.0:1.0:0.0	.	256;274;274;293	Q86X29-2;Q86X29-3;E9PHD4;Q86X29	.;.;.;LSR_HUMAN	I	293;274;256	ENSP00000354575:V293I;ENSP00000346976:V274I;ENSP00000262627:V256I	ENSP00000262627:V256I	V	+	1	0	LSR	40445390	1.000000	0.71417	0.946000	0.38457	0.967000	0.64934	4.937000	0.63513	2.448000	0.82819	0.591000	0.81541	GTC		TCGA-IB-A5SS-01A-11D-A32N-08	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	1	0	1	75	345	0	106	1	1	195	446	0	106	2		0	0	0	0	0	2	1	1.000000	73	342	0	105	2		0	0	0	0	106	2	-20.000000	1	1	121412	4	41	1	1	2	3	2.485102	1	0.460000	1.850000	0.560976	0.950000	7.600000e-01	1.000000	1.000000	0.937296	0.950000	1	0.850000	1.000000
ZNF585A	199704	broad.mit.edu	37	19	37643142	37643142	+	Silent	SNP	G	G	A	rs113590010	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:37643142G>A	ENST00000356958.4	-	5	1917	c.1659C>T	c.(1657-1659)caC>caT	p.H553H	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Silent_p.H498H|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.H498H			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A			42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		TCCCACATTCGTGGCATTCAT	0.403000																								0							SO:0001819	synonymous_variant			ENST00000356958.4	1	0	hg19																																																																																					TCGA-IB-A5SS-01A-11D-A32N-08	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	1	0	0	63	233	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	1.000000	63	227	0	117	2		0	0	0	0	64	2	-20.000000	1	1	121412	21	47	1	1	2	3	2.485102	1	0.460000	1.850000	0.560976	0.990000	9.000000e-01	1.000000	1.000000	0.992826	0.990000	1	0.990000	1.000000
LTBP4	8425	broad.mit.edu	37	19	41123123	41123123	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:41123123C>G	ENST00000308370.7	+	25	3261	c.3261C>G	c.(3259-3261)caC>caG	p.H1087Q	LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000204005.9_Missense_Mutation_p.H1050Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.H1020Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.H141Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4			1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		ATGGGCGTCACTGCGTGGGTA	0.622000																								0							SO:0001583	missense			ENST00000308370.7	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999789	0.54147	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D	0.91631	-2.19;-2.88;-2.19;-2.88	4.19	4.19	0.49359	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.42420	D	0.000715	D	0.94138	0.8120	.	.	.	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.998	D	0.91644	0.5329	9	0.13470	T	0.59	.	15.8101	0.78552	0.0:1.0:0.0:0.0	.	1020;1088;1050	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	1050;1087;1020;141	ENSP00000204005:H1050Q;ENSP00000311905:H1087Q;ENSP00000380031:H1020Q;ENSP00000243562:H141Q	ENSP00000204005:H1050Q	H	+	3	2	LTBP4	45814963	0.611000	0.26992	1.000000	0.80357	0.994000	0.84299	-0.142000	0.10311	2.330000	0.79161	0.563000	0.77884	CAC		TCGA-IB-A5SS-01A-11D-A32N-08	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	1	22	159	0	43	1	1	22	267	0	43	2		0	0	0	0	0	2	1	0.999999	22	159	0	43	2		0	0	0	0	43	2	-20.000000	1	1	0	0		1	1	4	5	3.505587	1	0.460000	1.850000	0.680473	0.900000	5.900000e-01	1.000000	1.000000	0.880398	0.900000	1	0.730000	1.000000
CCDC9	26093	broad.mit.edu	37	19	47774764	47774764	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:47774764G>T	ENST00000221922.6	+	12	1647	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9			12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)			GTCCGGAGGAGCCCCTGCTGG	0.677000																								0							SO:0001583	missense			ENST00000221922.6	0	1	hg19	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.971115	0.53614	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.25749	1.78	4.25	0.667	0.17907	.	0.951510	0.08620	N	0.918598	T	0.17577	0.0422	L	0.33485	1.01	0.31583	N	0.654852	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.36615	T	0.2	-8.8316	5.4815	0.16727	0.1917:0.1632:0.6451:0.0	.	475	Q9Y3X0	CCDC9_HUMAN	D	475;457	ENSP00000221922:E475D	ENSP00000221922:E475D	E	+	3	2	CCDC9	52466604	0.998000	0.40836	0.009000	0.14445	0.138000	0.21146	2.748000	0.47483	0.445000	0.26639	0.281000	0.19383	GAG		TCGA-IB-A5SS-01A-11D-A32N-08	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1	0	0	0	5	357	0	152	0	3.643418e-01	0	79	0	152	2		0	0	0	0	0	2	1	0.937045	5	355	0	151	2		0	0	0	0	152	2	-5.302741	1	0	0	0		1	0	1	1	1.646124	1	0.460000	1.850000	0.298701	0.040000	1.000000e-02	0.100000	0.050000	0.054819	0.040000	0	0.020000	0.080000
NUP62	23636	broad.mit.edu	37	19	50412865	50412865	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:50412865G>A	ENST00000596217.1	-	2	2087	c.200C>T	c.(199-201)cCg>cTg	p.P67L	NUP62_ENST00000597723.1_Missense_Mutation_p.P67L|IL4I1_ENST00000341114.3_Intron|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.P67L|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.P67L|NUP62_ENST00000597029.1_Missense_Mutation_p.P67L|NUP62_ENST00000422090.2_Missense_Mutation_p.P67L			P37198	NUP62_HUMAN	nucleoporin 62kDa			19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)			CTGTGTGGCCGGAGTCTGGGT	0.552000																								0							SO:0001583	missense			ENST00000596217.1	0	1	hg19	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755489	0.31046	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38722	1.12;1.12;1.12	4.16	3.12	0.35913	Nucleoporin, NSP1-like, C-terminal (1);	0.403038	0.21678	U	0.070777	T	0.29716	0.0742	L	0.38531	1.155	0.42109	D	0.991379	P;P	0.47545	0.89;0.897	B;B	0.39419	0.299;0.157	T	0.13683	-1.0500	10	0.72032	D	0.01	-4.6212	7.9938	0.30256	0.1097:0.0:0.8903:0.0	.	67;67	Q8WYU3;P37198	.;NUP62_HUMAN	L	67	ENSP00000305503:P67L;ENSP00000407331:P67L;ENSP00000387991:P67L	ENSP00000321866:P67L	P	-	2	0	NUP62	55104677	0.914000	0.31030	0.018000	0.16275	0.019000	0.09904	6.760000	0.74939	1.339000	0.45563	0.655000	0.94253	CCG		TCGA-IB-A5SS-01A-11D-A32N-08	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	0	0	0	6	613	0	259	0	3.634614e-01	0	115	0	259	2		0	0	0	0	0	2	0	0.212976	6	601	1	258	10		0	0	0	0	259	2	-1.734053	0	1	0	0		1	0	1	1	1.646124	1	0.460000	1.850000	0.298701	0.030000	0	0.070000	0.030000	0.037593	0.030000	0	0.010000	0.050000
KLK13	26085	broad.mit.edu	37	19	51561826	51561826	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:51561826C>T	ENST00000595793.1	-	4	656	c.614G>A	c.(613-615)gGc>gAc	p.G205D	KLK13_ENST00000595547.1_Missense_Mutation_p.G132D|KLK13_ENST00000335422.3_Missense_Mutation_p.G53D	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13			16		all_neural(266;0.026)			CTCTTTTGTGCCGGCACACAA	0.527000																								0							SO:0001583	missense			ENST00000595793.1	0	1	hg19	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130091	0.56721	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.90133	-2.62	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.136174	0.33732	N	0.004605	D	0.95971	0.8688	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.983;0.999;0.999	D	0.96571	0.9423	10	0.87932	D	0	.	15.4416	0.75187	0.0:1.0:0.0:0.0	.	53;132;205	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	D	205;53	ENSP00000334079:G53D	ENSP00000156476:G205D	G	-	2	0	KLK13	56253638	0.998000	0.40836	0.858000	0.33744	0.171000	0.22731	6.159000	0.71856	2.588000	0.87417	0.561000	0.74099	GGC		TCGA-IB-A5SS-01A-11D-A32N-08	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	0	0	0	6	491	0	221	0	0	0	1	0	221	2		0	0	0	0	0	2	1	0.964288	6	487	0	218	2		0	0	0	0	221	2	-1.719904	0	1	0	0		1	0	1	1	1.646124	1	0.460000	1.850000	0.298701	0.030000	1.000000e-02	0.080000	0.040000	0.046736	0.030000	0	0.020000	0.060000
KIR3DL1	3811	broad.mit.edu	37	19	55333120	55333120	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:55333120G>A	ENST00000391728.4	+	5	789	c.756G>A	c.(754-756)atG>atA	p.M252I	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.M252I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.M252I|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.M252I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.M157I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1			11					CCTATGACATGTACCATCTAT	0.587000																								0							SO:0001583	missense			ENST00000391728.4	0	1	hg19	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	0.425	-0.906123	0.02453	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	1.47	-2.94	0.05581	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.298930	0.01900	N	0.039137	T	0.12390	0.0301	N	0.17594	0.5	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.13407	0.009;0.004;0.001;0.009	T	0.25572	-1.0128	10	0.19147	T	0.46	.	5.1298	0.14903	0.0:0.1775:0.4406:0.3819	.	252;157;252;252	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	I	252;252;252;230;252;252;157	ENSP00000384528:M252I;ENSP00000443350:M252I;ENSP00000442355:M252I;ENSP00000375608:M252I;ENSP00000326868:M252I;ENSP00000350901:M157I	ENSP00000326868:M252I	M	+	3	0	KIR3DL1	60024932	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-3.201000	0.00217	-3.594000	0.00028	ATG		TCGA-IB-A5SS-01A-11D-A32N-08	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	0	0	0	55	102	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	29	63	0	122	2		0	0	0	0	71	2	-20.000000	1	1	0	0		1	0	1	1	2.044852	0	0.460000	1.850000	0.451164	0.990000	9.900000e-01	1.000000	1.000000	0.999982	0.990000	1	0.990000	1.000000
OR2Z1	284383	broad.mit.edu	37	19	8841649	8841649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr19:8841649C>T	ENST00000324060.2	+	1	334	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1			18					AGACTTTCTGCGGGGAGAAGG	0.552000																								0							SO:0001583	missense			ENST00000324060.2	0	1	hg19	CCDS32895.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.412	-0.335123	0.05278	2.27E-4	0.0	ENSG00000181733	ENST00000324060	T	0.00406	7.55	4.33	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	2.610920	0.01162	N	0.006663	T	0.00384	0.0012	L	0.39514	1.22	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.49606	-0.8922	10	0.38643	T	0.18	.	7.9281	0.29887	0.0:0.8369:0.0:0.1631	.	87	Q8NG97	OR2Z1_HUMAN	W	87	ENSP00000316284:R87W	ENSP00000316284:R87W	R	+	1	2	OR2Z1	8702649	0.000000	0.05858	0.009000	0.14445	0.011000	0.07611	-0.537000	0.06128	2.182000	0.69389	0.543000	0.68304	CGG		TCGA-IB-A5SS-01A-11D-A32N-08	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1	0	0	0	5	539	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.936893	5	536	0	95	2		0	0	0	0	95	2	-2.330848	0	1	121412	2	37	1	1	4	5	3.572793	1	0.460000	1.850000	0.680473	0.060000	1.000000e-02	0.160000	0.050000	0.078659	0.060000	0	0.030000	0.120000
ATP13A2	23400	broad.mit.edu	37	1	17322564	17322564	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:17322564G>A	ENST00000326735.8	-	15	1482	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.Y478Y|ATP13A2_ENST00000452699.1_Silent_p.Y478Y			Q9NQ11	AT132_HUMAN	ATPase type 13A2			32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)			GGCTCTGGGCGTAGAGCGTGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000326735.8	0	1	hg19	CCDS175.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	0	0	0	5	512	0	197	0	4.554295e-01	0	139	0	197	2		0	0	0	0	0	2	1	0.936213	5	507	0	197	2		0	0	0	0	197	2	-2.360717	0	1	121412	14	46	1	1	2	3	2.142064	0	0.460000	1.850000	0.469756	0.040000	0	1.000000	0.040000	0.111962	0.040000	0	0.020000	0.080000
ASTN1	460	broad.mit.edu	37	1	176926840	176926840	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:176926840G>A	ENST00000367654.3	-	11	2096	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	ASTN1_ENST00000367657.3_Missense_Mutation_p.R621C|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.R621C|ASTN1_ENST00000424564.2_Missense_Mutation_p.R621C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1			153					TCCAGCTTGCGATCTGAAATA	0.537000																								0							SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	32	5.191818	0.94923	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87571	-2.27;-2.27;2.64;-2.27	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.90363	0.6984	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.992	D	0.91468	0.5194	10	0.87932	D	0	-28.5238	19.1684	0.93567	0.0:0.0:1.0:0.0	.	629;621;621	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	C	621;621;629;621;621	ENSP00000356629:R621C;ENSP00000354536:R621C;ENSP00000356626:R629C;ENSP00000395041:R621C	ENSP00000354536:R621C	R	-	1	0	ASTN1	175193463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.618000	0.88619	0.563000	0.77884	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	68	172	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	66	171	0	80	2		0	0	0	0	82	2	-6.215812	1	1	121412	3	36	1	1	2	3	2.095873	0	0.460000	1.850000	0.462473	0.990000	9.900000e-01	1.000000	1.000000	0.998943	0.990000	1	0.990000	1.000000
HLX	3142	broad.mit.edu	37	1	221057751	221057751	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:221057751C>T	ENST00000366903.6	+	4	2673	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	HLX_ENST00000549319.1_Missense_Mutation_p.T177M	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox			32					CCCAGCGACACGGAGCGGACT	0.642000																								0							SO:0001583	missense			ENST00000366903.6	1	1	hg19	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952214	0.53293	.	.	ENSG00000136630	ENST00000366903;ENST00000427693;ENST00000549319	D;T;T	0.90385	-2.66;0.51;3.29	5.03	4.09	0.47781	.	0.247697	0.27811	N	0.017749	D	0.84174	0.5414	N	0.24115	0.695	0.09310	N	1	P	0.48640	0.913	B	0.43809	0.432	T	0.77587	-0.2532	10	0.66056	D	0.02	-14.4125	9.6566	0.39930	0.1598:0.6859:0.1543:0.0	.	391	Q14774	HLX_HUMAN	M	391;124;177	ENSP00000355870:T391M;ENSP00000408248:T124M;ENSP00000449882:T177M	ENSP00000355870:T391M	T	+	2	0	HLX	219124374	0.977000	0.34250	0.038000	0.18304	0.737000	0.42083	2.102000	0.41796	1.207000	0.43291	0.561000	0.74099	ACG		TCGA-IB-A5SS-01A-11D-A32N-08	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	1	0	1	59	166	0	58	0	1	0	114	0	58	2		0	0	0	0	0	2	1	1.000000	59	160	0	56	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	1	2	3	2.095873	0	0.460000	1.850000	0.462473	0.990000	9.000000e-01	1.000000	1.000000	0.993210	0.990000	1	0.990000	1.000000
OR2G6	391211	broad.mit.edu	37	1	248685733	248685733	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:248685733G>A	ENST00000343414.4	+	1	818	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6			61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		ACCTTCAACCGGCCAATAGGA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000343414.4	0	1	hg19	CCDS31119.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	0	0	0	5	283	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.936928	5	281	0	88	2		0	0	0	0	88	2	-2.694931	1	1	121412	5	44	1	1	2	3	2.095873	0	0.460000	1.850000	0.462473	0.080000	2.000000e-02	0.190000	0.080000	0.098920	0.080000	0	0.040000	0.130000
LPAR3	23566	broad.mit.edu	37	1	85279562	85279562	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr1:85279562G>C	ENST00000440886.1	-	2	1067	c.1029C>G	c.(1027-1029)agC>agG	p.S343R	LPAR3_ENST00000370611.3_Missense_Mutation_p.S343R|LPAR3_ENST00000491034.1_5'Flank			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3			24					CTGCACCTTGGCTAATACTAT	0.532000																								0							SO:0001583	missense			ENST00000440886.1	0	1	hg19	CCDS700.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465648	0.26335	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.74421	-0.84;-0.84	5.85	3.99	0.46301	.	0.513877	0.21711	N	0.070278	T	0.35422	0.0931	N	0.14661	0.345	0.36935	D	0.892083	B	0.19583	0.037	B	0.14023	0.01	T	0.10451	-1.0629	10	0.21540	T	0.41	.	9.1901	0.37193	0.2425:0.0:0.7575:0.0	.	343	Q9UBY5	LPAR3_HUMAN	R	343	ENSP00000395389:S343R;ENSP00000359643:S343R	ENSP00000359643:S343R	S	-	3	2	LPAR3	85052150	1.000000	0.71417	0.087000	0.20705	0.257000	0.26127	1.974000	0.40559	0.824000	0.34613	0.650000	0.86243	AGC		TCGA-IB-A5SS-01A-11D-A32N-08	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	0	0	0	4	122	0	65	0	0	0	1	0	65	2		0	0	0	0	0	2	0	0.883847	0	122	0	64	2		0	0	0	0	65	2	-6.755027	1	0	0	0		1	0	1	1	1.642911	1	0.460000	1.850000	0.298701	0.110000	3.000000e-02	0.250000	0.100000	0.128349	0.110000	0	0.060000	0.180000
PTPRT	11122	broad.mit.edu	37	20	40827934	40827934	+	Missense_Mutation	SNP	C	C	T	rs61749502	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:40827934C>T	ENST00000373187.1	-	16	2436	c.2437G>A	c.(2437-2439)Gcc>Acc	p.A813T	PTPRT_ENST00000373198.4_Missense_Mutation_p.A832T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A822T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A803T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A803T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A813T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A816T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			TTGCGGCTGGCGCTGAGCTTG	0.577000																								0							SO:0001583	missense			ENST00000373187.1	1	0	hg19	CCDS42874.1	51	0.023351648351648352	46	0.09349593495934959	5	0.013812154696132596	0	0.0	0	0.0	C	5.956	0.360303	0.11296	0.075499	1.19E-4	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.32988	1.46;1.46;1.46;1.46;1.45;1.44;1.43	6.03	-12.1	0.00011	.	0.964896	0.08646	N	0.914735	T	0.00300	0.0009	N	0.02225	-0.63	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.22661	-1.0210	10	0.02654	T	1	.	12.1518	0.54053	0.2949:0.6078:0.0:0.0973	.	835;813	O14522-1;O14522	.;PTPRT_HUMAN	T	813;813;816;822;835;803;803	ENSP00000362286:A813T;ENSP00000362283:A813T;ENSP00000362289:A816T;ENSP00000348408:A822T;ENSP00000362294:A835T;ENSP00000362280:A803T;ENSP00000362297:A803T	ENSP00000348408:A822T	A	-	1	0	PTPRT	40261348	0.920000	0.31207	0.000000	0.03702	0.902000	0.53008	-0.011000	0.12721	-2.596000	0.00453	-0.140000	0.14226	GCC		TCGA-IB-A5SS-01A-11D-A32N-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0	0	1	177	604	0	308		0	0	0	0	308	2		0	0	0	0	0	2	1	1.000000	175	591	0	305	2		0	0	0	0	308	2	-1.843438	0	1	120968	899	66	1	0	0	0	2.047877	0	0.460000	1.850000	0.454986	0.970000	8.400000e-01	1.000000	1.000000	0.961421	0.970000	1	0.900000	1.000000
CDH26	60437	broad.mit.edu	37	20	58574705	58574705	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr20:58574705C>T	ENST00000244047.5	+	14	2395	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	CDH26_ENST00000244049.3_Missense_Mutation_p.T28M|CDH26_ENST00000348616.4_Missense_Mutation_p.T695M|CDH26_ENST00000350849.6_Missense_Mutation_p.T28M|CDH26_ENST00000497614.1_3'UTR			Q8IXH8	CAD26_HUMAN	cadherin 26			44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		GCAGGACCCACGCAGGGAGTT	0.522000																								0							SO:0001583	missense			ENST00000244047.5	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.687|2.687	-0.274118|-0.274118	0.05679|0.05679	4.54E-4|4.54E-4	1.16E-4|1.16E-4	ENSG00000124215|ENSG00000124215	ENST00000370991|ENST00000244047;ENST00000348616;ENST00000244049;ENST00000350849;ENST00000456106	.|T;T;T	.|0.59638	.|0.25;0.54;0.54	2.88|2.88	-5.76|-5.76	0.02376|0.02376	.|.	.|.	.|.	.|.	.|.	T|T	0.22704|0.22704	0.0548|0.0548	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P;P;P;B	.|0.43024	.|0.798;0.798;0.474;0.434	.|B;B;B;B	.|0.32465	.|0.094;0.146;0.032;0.07	T|T	0.20940|0.20940	-1.0260|-1.0260	5|9	.|0.34782	.|T	.|0.22	.|.	2.0821|2.0821	0.03637|0.03637	0.2073:0.422:0.0986:0.2721|0.2073:0.422:0.0986:0.2721	.|.	.|28;28;695;695	.|Q8IXH8-5;Q8IXH8-2;Q8IXH8;Q8IXH8-4	.|.;.;CAD26_HUMAN;.	C|M	287|695;695;28;28;28	.|ENSP00000244047:T695M;ENSP00000339390:T695M;ENSP00000310845:T28M	.|ENSP00000244047:T695M	R|T	+|+	1|2	0|0	CDH26|CDH26	58008100|58008100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.002000|-2.002000	0.01464|0.01464	-1.744000|-1.744000	0.01338|0.01338	-3.845000|-3.845000	0.00018|0.00018	CGC|ACG		TCGA-IB-A5SS-01A-11D-A32N-08	CDH26-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	51	229	0	84	0	6.726205e-01	1	11	0	84	2		0	0	0	0	0	2	1	1.000000	48	228	0	84	2		0	0	0	0	84	2	-20.000000	1	1	121412	8	40	1	0	0	0	2.047877	0	0.460000	1.850000	0.454986	0.780000	6.000000e-01	0.980000	0.780000	0.790043	0.780000	0	0.680000	0.890000
RFPL1	5988	broad.mit.edu	37	22	29835118	29835118	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:29835118T>A	ENST00000354373.2	+	1	547	c.338T>A	c.(337-339)aTt>aAt	p.I113N	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1			16					CTGAAGAAGATTCTGCAGATG	0.512000																								0							SO:0001583	missense			ENST00000354373.2	0	1	hg19	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	-	12.72	2.023419	0.35701	.	.	ENSG00000128250	ENST00000354373	T	0.30448	1.53	1.66	-1.88	0.07713	RDM domain, Ret finger protein-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.37705	0.1013	L	0.52573	1.65	0.09310	N	1	D	0.59767	0.986	D	0.69307	0.963	T	0.24333	-1.0163	9	0.37606	T	0.19	.	2.2276	0.03988	0.0:0.235:0.315:0.45	.	113	O75677	RFPL1_HUMAN	N	113	ENSP00000346342:I113N	ENSP00000346342:I113N	I	+	2	0	RFPL1	28165118	0.004000	0.15560	0.004000	0.12327	0.209000	0.24338	-0.522000	0.06237	-0.097000	0.12307	0.342000	0.21767	ATT		TCGA-IB-A5SS-01A-11D-A32N-08	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	0	0	0	6	441	0	131	0	0	0	1	0	131	2		0	0	0	0	0	2	1	0.963464	6	434	0	132	2		0	0	0	0	131	2	-6.096757	1	1	0	0		1	1	2	3	2.134110	0	0.460000	1.850000	0.468556	0.060000	2.000000e-02	1.000000	0.060000	0.120641	0.060000	0	0.030000	0.100000
CACNA1I	8911	broad.mit.edu	37	22	40042649	40042649	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:40042649C>T	ENST00000402142.3	+	8	1225	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	CACNA1I_ENST00000400164.3_Missense_Mutation_p.H409Y|CACNA1I_ENST00000404898.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000401624.1_Missense_Mutation_p.H409Y|CACNA1I_ENST00000336649.4_Missense_Mutation_p.H409Y|CACNA1I_ENST00000407673.1_Missense_Mutation_p.H409Y	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAACGGGAGCACCGGCTGAT	0.607000																								0							SO:0001583	missense			ENST00000402142.3	0	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144395	0.37825	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96885	-4.14;-4.09;-4.13;-4.09;-4.16;-4.06	3.49	3.49	0.39957	.	0.300797	0.30151	U	0.010282	D	0.96725	0.8931	M	0.63843	1.955	0.50813	D	0.999896	P;D;P;D	0.63880	0.919;0.969;0.919;0.993	B;P;B;D	0.72982	0.441;0.792;0.441;0.979	D	0.95148	0.8270	10	0.02654	T	1	.	15.8737	0.79145	0.0:1.0:0.0:0.0	.	409;409;409;409	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Y	409	ENSP00000385019:H409Y;ENSP00000384093:H409Y;ENSP00000383887:H409Y;ENSP00000385680:H409Y;ENSP00000337829:H409Y;ENSP00000383028:H409Y	ENSP00000337829:H409Y	H	+	1	0	CACNA1I	38372595	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.658000	0.37376	1.899000	0.54978	0.305000	0.20034	CAC		TCGA-IB-A5SS-01A-11D-A32N-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	1	0	1	6	22	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.970955	6	22	0	10	2		0	0	0	0	10	2	-14.565670	1	1	0	0		1	1	2	3	2.134110	0	0.460000	1.850000	0.468556	0.980000	4.300000e-01	1.000000	1.000000	0.873955	0.980000	1	0.670000	1.000000
SBF1	6305	broad.mit.edu	37	22	50900742	50900742	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr22:50900742C>T	ENST00000390679.3	-	19	2472	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	SBF1_ENST00000348911.6_Missense_Mutation_p.R764H|SBF1_ENST00000380817.3_Missense_Mutation_p.R763H			O95248	MTMR5_HUMAN	SET binding factor 1			43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GTAGCTCATGCGGTTGGCATA	0.647000																								0							SO:0001583	missense			ENST00000390679.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503927	0.85176	0.0	1.18E-4	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	T;T;T	0.49432	0.78;0.78;0.78	4.52	4.52	0.55395	.	0.933584	0.09027	N	0.859341	T	0.69593	0.3128	M	0.72118	2.19	0.58432	D	0.999999	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.66716	0.946;0.938;0.938	T	0.66516	-0.5904	10	0.59425	D	0.04	.	17.0388	0.86483	0.0:1.0:0.0:0.0	.	763;764;763	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	H	763;764;774;773;763	ENSP00000370196:R763H;ENSP00000252027:R764H;ENSP00000375097:R763H	ENSP00000336522:R773H	R	-	2	0	SBF1	49247608	0.984000	0.35163	1.000000	0.80357	0.965000	0.64279	1.018000	0.30002	2.366000	0.80165	0.655000	0.94253	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	SBF1-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	5	358	0	158	0	4.975705e-01	0	107	0	158	2		0	0	0	0	0	2	1	0.936587	5	355	0	157	2		0	0	0	0	158	2	-2.844892	1	1	121210	29	46	1	1	2	3	2.129916	0	0.460000	1.850000	0.468556	0.060000	1.000000e-02	1.000000	0.060000	0.124098	0.060000	0	0.030000	0.110000
CXCR2	3579	broad.mit.edu	37	2	219000390	219000390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:219000390G>A	ENST00000318507.2	+	3	1293	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2			22					TGTGAGCGCCGCAATCACATC	0.597000																								0							SO:0001583	missense			ENST00000318507.2	0	1	hg19	CCDS2408.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.03	2.114961	0.37339	.	.	ENSG00000180871	ENST00000318507	T	0.37411	1.2	5.36	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.057955	0.64402	D	0.000006	T	0.48502	0.1503	M	0.70108	2.13	0.09310	N	0.999998	P	0.38767	0.646	P	0.50231	0.635	T	0.40440	-0.9563	9	.	.	.	.	9.7981	0.40748	0.1635:0.0:0.8365:0.0	.	289	P25025	CXCR2_HUMAN	H	289	ENSP00000319635:R289H	.	R	+	2	0	CXCR2	218708635	0.930000	0.31532	0.358000	0.25811	0.045000	0.14185	3.615000	0.54167	1.243000	0.43853	0.456000	0.33151	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	0	0	0	5	303	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	0.936422	5	300	0	108	2		0	0	0	0	108	2	-2.437072	0	1	121412	6	40	1	0	0	0	2.054531	0	0.460000	1.850000	0.457505	0.070000	2.000000e-02	0.150000	0.070000	0.083445	0.070000	0	0.040000	0.120000
VWA3B	200403	broad.mit.edu	37	2	98914394	98914394	+	Missense_Mutation	SNP	G	G	A	rs146321928	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr2:98914394G>A	ENST00000477737.1	+	24	3386	c.3182G>A	c.(3181-3183)cGc>cAc	p.R1061H	AC092675.1_ENST00000401293.1_RNA|VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B			70					TGTGTGAGCCGCACCCAAGCA	0.532000																								0							SO:0001583	missense			ENST00000477737.1	0	1	hg19	CCDS42718.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.890	0.732062	0.15507	.	.	ENSG00000168658	ENST00000477737;ENST00000358269	T	0.23147	1.92	4.93	-0.398	0.12418	.	750.824000	0.00166	N	0.000000	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.32455	-0.9906	10	0.56958	D	0.05	.	8.6816	0.34212	0.2741:0.4468:0.279:0.0	.	453;1061	Q502W6-5;Q502W6	.;VWA3B_HUMAN	H	1061;183	ENSP00000417955:R1061H	ENSP00000351009:R183H	R	+	2	0	VWA3B	98280826	0.000000	0.05858	0.093000	0.20910	0.314000	0.28054	0.066000	0.14489	0.036000	0.15547	-0.151000	0.13558	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	0	0	0	5	237	0	85	0	7.025761e-04	0	2	0	85	2		0	0	0	0	0	2	1	0.935420	5	233	0	84	2		0	0	0	0	85	2	-2.576463	1	1	120908	8	41	1	0	0	0	2.054531	0	0.460000	1.850000	0.457505	0.090000	3.000000e-02	0.200000	0.090000	0.105905	0.090000	0	0.050000	0.150000
SLC6A1	6529	broad.mit.edu	37	3	11059035	11059035	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:11059035G>A	ENST00000287766.4	+	3	559	c.138G>A	c.(136-138)acG>acA	p.T46T	SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1			26		Ovarian(110;0.0392)		Clobazam(DB00349)|Tiagabine(DB00906)	ACCGGGACACGTGGAAGGGCC	0.617000																								0							SO:0001819	synonymous_variant			ENST00000287766.4	1	0	hg19	CCDS2603.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	0	0	1	80	263	0	114	0	5.564212e-02	0	2	0	114	2		0	0	0	0	0	2	1	1.000000	80	259	0	112	2		0	0	0	0	114	2	-2.496433	0	1	121412	780	62	1	0	0	0	2.058891	0	0.460000	1.850000	0.457505	0.990000	8.200000e-01	1.000000	1.000000	0.966777	0.990000	1	0.900000	1.000000
CPNE4	131034	broad.mit.edu	37	3	131261421	131261421	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:131261421G>A	ENST00000512055.1	-	19	3645	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	CPNE4_ENST00000512332.1_Missense_Mutation_p.P525S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P507S|CPNE4_ENST00000502818.1_Missense_Mutation_p.P525S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P507S			Q96A23	CPNE4_HUMAN	copine IV			39					TTCCTGAAGGGCACGAACTGG	0.502000																								0							SO:0001583	missense			ENST00000512055.1	0	1	hg19	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496921	0.85069	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.56103	0.49;0.49;0.48;0.49;0.48	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.991;0.992	T	0.79342	-0.1843	10	0.56958	D	0.05	-17.478	19.3471	0.94367	0.0:0.0:1.0:0.0	.	525;507	Q96A23-2;Q96A23	.;CPNE4_HUMAN	S	507;507;525;507;525	ENSP00000421705:P507S;ENSP00000411904:P507S;ENSP00000424853:P525S;ENSP00000423811:P507S;ENSP00000421646:P525S	ENSP00000411904:P507S	P	-	1	0	CPNE4	132744111	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.624000	0.98398	2.566000	0.86566	0.655000	0.94253	CCC		TCGA-IB-A5SS-01A-11D-A32N-08	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	0	0	0	5	223	0	69	0	4.811178e-02	0	13	0	69	2		0	0	0	0	0	2	1	0.937506	5	222	0	69	2		0	0	0	0	69	2	-3.255014	1	1	0	0		1	0	0	0	2.072413	0	0.460000	1.850000	0.460000	0.100000	3.000000e-02	0.210000	0.100000	0.112824	0.100000	0	0.060000	0.160000
PIK3CB	5291	broad.mit.edu	37	3	138382857	138382857	+	Missense_Mutation	SNP	C	C	T	rs142933486	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:138382857C>T	ENST00000477593.1	-	20	2760	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	PIK3CB_ENST00000289153.2_Missense_Mutation_p.R896Q|PIK3CB_ENST00000544716.1_Missense_Mutation_p.R347Q			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta			41				Caffeine(DB00201)	CTCAATGGCTCGGTCCAGGTC	0.448000																								0							SO:0001583	missense			ENST00000477593.1	1	1	hg19	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.04|17.04	3.286996|3.286996	0.59867|0.59867	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000544716;ENST00000289153	.|T;T;T	.|0.76060	.|-0.99;-0.99;-0.99	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63640|0.63640	0.2528|0.2528	L|L	0.31207|0.31207	0.915|0.915	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B;B	.|0.33379	.|0.269;0.178;0.41	.|B;B;B	.|0.24541	.|0.041;0.044;0.054	T|T	0.60662|0.60662	-0.7219|-0.7219	5|10	.|0.28530	.|T	.|0.3	-11.8261|-11.8261	20.0442|20.0442	0.97604|0.97604	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|896;483;347	.|P42338;B4DZI3;Q68DL0	.|PK3CB_HUMAN;.;.	K|Q	528|896;347;896	.|ENSP00000418143:R896Q;ENSP00000438259:R347Q;ENSP00000289153:R896Q	.|ENSP00000289153:R896Q	E|R	-|-	1|2	0|0	PIK3CB|PIK3CB	139865547|139865547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.138000|3.138000	0.50570|0.50570	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GAG|CGA		TCGA-IB-A5SS-01A-11D-A32N-08	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1	1	0	1	28	99	0	35	1	9.999955e-01	33	44	0	35	2		0	0	0	0	0	2	1	1.000000	27	99	0	35	2		0	0	0	0	35	2	-3.470118	1	0	0	0		1	0	0	0	2.072413	0	0.460000	1.850000	0.460000	0.950000	6.700000e-01	1.000000	1.000000	0.919559	0.950000	1	0.800000	1.000000
DVL3	1857	broad.mit.edu	37	3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:183884692G>A	ENST00000313143.3	+	11	1375	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	DVL3_ENST00000431765.1_Missense_Mutation_p.G359D|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3			35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		CCTGCATACGGCATGAGCCCC	0.647000																								0							SO:0001583	missense			ENST00000313143.3	0	1	hg19	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398229	0.83120	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04156	3.71;3.69	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	M	0.68593	2.085	0.80722	D	1	P;P;B;D	0.57257	0.94;0.94;0.232;0.979	P;P;B;P	0.55222	0.694;0.76;0.113;0.771	T	0.00172	-1.1958	10	0.33141	T	0.24	-34.8595	20.4387	0.99107	0.0:0.0:1.0:0.0	.	359;208;376;376	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	D	376;376;359	ENSP00000316054:G376D;ENSP00000405885:G359D	ENSP00000316054:G376D	G	+	2	0	DVL3	185367386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.836000	0.97738	0.655000	0.94253	GGC		TCGA-IB-A5SS-01A-11D-A32N-08	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	0	0	0	6	462	0	171	0	7.584087e-01	0	207	0	171	2		0	0	0	0	0	2	1	0.963527	5	456	0	169	2		0	0	0	0	171	2	-2.154265	0	1	0	0		1	0	0	0	2.072413	0	0.460000	1.850000	0.460000	0.050000	1.000000e-02	0.120000	0.060000	0.064597	0.050000	0	0.030000	0.090000
GADL1	339896	broad.mit.edu	37	3	30875345	30875345	+	Splice_Site	SNP	A	A	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:30875345A>T	ENST00000282538.5	-	11	1200	c.1050T>A	c.(1048-1050)tcT>tcA	p.S350S	GADL1_ENST00000454381.3_Splice_Site_p.S350S	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1			25					GAAAACTTACAGATTTGTCTT	0.502000																								0							SO:0001630	splice_region_variant			ENST00000282538.5	1	0	hg19	CCDS2649.2																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	1	0	1	32	125	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	32	124	0	58	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	0	0	0	2.072413	0	0.460000	1.850000	0.460000	0.880000	6.300000e-01	1.000000	1.000000	0.876483	0.880000	1	0.750000	1.000000
CNTN3	5067	broad.mit.edu	37	3	74351867	74351867	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351867G>T	ENST00000263665.6	-	13	1787	c.1760C>A	c.(1759-1761)tCa>tAa	p.S587*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)			83		Lung NSC(201;0.138)|Lung SC(41;0.21)			AGCAGCAGATGAAACACTGTC	0.418000																								0							SO:0001587	stop_gained			ENST00000263665.6	0	1	hg19	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	38	6.834241	0.97873	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.08	5.08	0.68730	.	0.136971	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9949	0.86365	0.0:0.0:1.0:0.0	.	.	.	.	X	587	.	ENSP00000263665:S587X	S	-	2	0	CNTN3	74434557	1.000000	0.71417	0.403000	0.26384	0.815000	0.46073	6.862000	0.75484	2.523000	0.85059	0.585000	0.79938	TCA		TCGA-IB-A5SS-01A-11D-A32N-08	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1	26	80	0	36	0	0	1	0	0	36	2		0	0	0	0	0	2	1	1.000000	26	79	0	37	2		0	0	0	0	36	2	-4.274286	1	1	0	0		1	0	0	0	2.072413	0	0.460000	1.850000	0.460000	0.990000	7.300000e-01	1.000000	1.000000	0.961195	0.990000	1	0.890000	1.000000
CNTN3	5067	broad.mit.edu	37	3	74351868	74351868	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr3:74351868A>T	ENST00000263665.6	-	13	1786	c.1759T>A	c.(1759-1761)Tca>Aca	p.S587T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)			83		Lung NSC(201;0.138)|Lung SC(41;0.21)			GCAGCAGATGAAACACTGTCC	0.418000																								0							SO:0001583	missense			ENST00000263665.6	1	1	hg19	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425150	0.62733	.	.	ENSG00000113805	ENST00000263665	T	0.64991	-0.13	5.08	5.08	0.68730	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.136971	0.51477	D	0.000086	T	0.60702	0.2289	L	0.53249	1.67	0.46749	D	0.999185	P	0.35192	0.489	B	0.41691	0.364	T	0.60806	-0.7190	10	0.38643	T	0.18	.	10.7556	0.46234	0.8287:0.1713:0.0:0.0	.	587	Q9P232	CNTN3_HUMAN	T	587	ENSP00000263665:S587T	ENSP00000263665:S587T	S	-	1	0	CNTN3	74434558	1.000000	0.71417	0.433000	0.26760	0.861000	0.49209	4.988000	0.63863	2.039000	0.60335	0.477000	0.44152	TCA		TCGA-IB-A5SS-01A-11D-A32N-08	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	1	0	1	26	81	0	37	0	0	1	0	0	37	2		0	0	0	0	0	2	1	1.000000	26	80	0	37	2		0	0	0	0	37	2	-19.583500	1	1	0	0		1	0	0	0	2.072413	0	0.460000	1.850000	0.460000	0.990000	7.300000e-01	1.000000	1.000000	0.958196	0.990000	1	0.880000	1.000000
TBC1D1	23216	broad.mit.edu	37	4	38022213	38022213	+	Splice_Site	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr4:38022213G>A	ENST00000261439.4	+	5	1329	c.974G>A	c.(973-975)gGc>gAc	p.G325D	TBC1D1_ENST00000508802.1_Splice_Site_p.G325D	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1			36					CTTTGGCAGGGCATCAGACAC	0.458000																								0							SO:0001630	splice_region_variant			ENST00000261439.4	0	1	hg19	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.905016	0.92035	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.14266	2.52;2.52;2.52	5.48	5.48	0.80851	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.51477	D	0.000095	T	0.36054	0.0953	L	0.54908	1.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.03555	-1.1025	10	0.87932	D	0	-20.7573	19.3503	0.94381	0.0:0.0:1.0:0.0	.	325;325;325	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	D	325;325;196	ENSP00000423651:G325D;ENSP00000261439:G325D;ENSP00000396877:G196D	ENSP00000261439:G325D	G	+	2	0	TBC1D1	37698608	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	9.730000	0.98797	2.576000	0.86940	0.467000	0.42956	GGC		TCGA-IB-A5SS-01A-11D-A32N-08	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	0	0	0	6	700	0	258	0	2.153403e-01	0	87	0	258	2		0	0	0	0	0	2	1	0.963657	6	691	0	258	2		0	0	0	0	258	2	-1.704822	0	1	0	0		1	1	2	3	2.095274	0	0.460000	1.850000	0.462473	0.030000	0	0.090000	0.040000	0.052283	0.030000	0	0.010000	0.060000
PCDHA4	56144	broad.mit.edu	37	5	140188813	140188813	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:140188813C>T	ENST00000530339.1	+	1	2041	c.2041C>T	c.(2041-2043)Cgg>Tgg	p.R681W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R681W|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R681W|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GGCCTCCTCACGGGCGTTGGT	0.632000																								0							SO:0001583	missense			ENST00000530339.1	1	1	hg19	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	11.80	1.746491	0.30955	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54071	0.63;0.59;0.6	3.93	-0.744	0.11101	.	0.210729	0.23351	U	0.049123	T	0.51466	0.1676	M	0.89601	3.045	0.09310	N	1	B;B;B	0.32717	0.381;0.082;0.137	B;B;B	0.32289	0.143;0.022;0.022	T	0.52366	-0.8585	10	0.66056	D	0.02	.	4.0101	0.09619	0.4068:0.383:0.1322:0.078	.	681;681;681	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	681	ENSP00000423470:R681W;ENSP00000349344:R681W;ENSP00000435300:R681W	ENSP00000349344:R681W	R	+	1	2	PCDHA4	140168997	0.171000	0.23029	0.001000	0.08648	0.014000	0.08584	0.000000	0.12993	-0.051000	0.13334	-0.516000	0.04426	CGG		TCGA-IB-A5SS-01A-11D-A32N-08	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	1	0	1	59	227	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	1.000000	59	224	0	93	2		0	0	0	0	93	2	-20.000000	1	1	0	0		1	1	2	3	2.084628	0	0.460000	1.850000	0.461239	0.890000	7.000000e-01	1.000000	1.000000	0.893490	0.890000	1	0.790000	1.000000
PCDHGA12	26025	broad.mit.edu	37	5	140810888	140810888	+	Missense_Mutation	SNP	G	G	A	rs112186927	byFrequency	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:140810888G>A	ENST00000252085.3	+	1	704	c.562G>A	c.(562-564)Ggt>Agt	p.G188S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12			58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGGAGCCGACGGTAGTAAGTA	0.607000																								0							SO:0001583	missense			ENST00000252085.3	1	0	hg19	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	15.60	2.882516	0.51908	.	.	ENSG00000253159	ENST00000252085	T	0.20332	2.08	5.8	5.8	0.92144	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.57080	0.2029	M	0.93375	3.41	0.30472	N	0.773188	D;D	0.65815	0.993;0.995	P;P	0.60473	0.766;0.875	T	0.65899	-0.6056	9	0.59425	D	0.04	.	19.6649	0.95889	0.0:0.0:1.0:0.0	.	188;188	O60330-2;O60330	.;PCDGC_HUMAN	S	188	ENSP00000252085:G188S	ENSP00000252085:G188S	G	+	1	0	PCDHGA12	140791072	1.000000	0.71417	0.311000	0.25182	0.004000	0.04260	2.963000	0.49184	2.748000	0.94277	0.655000	0.94253	GGT		TCGA-IB-A5SS-01A-11D-A32N-08	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	1	0	1	108	442	0	161	0	5.545100e-01	0	9	0	161	2		0	0	0	0	0	2	1	1.000000	107	437	0	159	2		0	0	0	0	161	2	-2.793535	1	1	0	0		1	1	2	3	2.084628	0	0.460000	1.850000	0.461239	0.850000	7.100000e-01	1.000000	0.850000	0.857698	0.850000	1	0.780000	0.930000
PCDH1	5097	broad.mit.edu	37	5	141243880	141243880	+	Silent	SNP	G	G	A	rs149691852	by1000genomes	TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:141243880G>A	ENST00000394536.3	-	3	2155	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.S660S|PCDH1_ENST00000287008.3_Silent_p.S672S|PCDH1_ENST00000536585.1_Silent_p.S650S	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1			51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTCGATCAAAGCTCAGGCTGG	0.552000													Ovarian(132;1609 1739 4190 14731 45037)											0							SO:0001819	synonymous_variant			ENST00000394536.3	1	1	hg19	CCDS43375.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	1	0	1	70	222	0	96	1	1	246	279	0	96	2		0	0	0	0	0	2	1	1.000000	70	219	0	96	2		0	0	0	0	96	2	-20.000000	1	1	121412	2	35	1	1	2	3	2.084628	0	0.460000	1.850000	0.461239	0.990000	8.300000e-01	1.000000	1.000000	0.977066	0.990000	1	0.930000	1.000000
RASGEF1C	255426	broad.mit.edu	37	5	179538479	179538479	+	Silent	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:179538479G>A	ENST00000393371.2	-	11	1577	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	RASGEF1C_ENST00000522500.1_Silent_p.T276T|RASGEF1C_ENST00000361132.4_Silent_p.T427T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C			12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGATGGGGGCGGTGTACAGGT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000393371.2	1	1	hg19	CCDS4452.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	1	0	1	44	150	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	44	150	0	73	2		0	0	0	0	73	2	-4.108868	1	1	121412	2	34	1	1	2	3	2.084628	0	0.460000	1.850000	0.461239	0.980000	7.400000e-01	1.000000	1.000000	0.945306	0.980000	1	0.860000	1.000000
SLC45A2	51151	broad.mit.edu	37	5	33984521	33984521	+	Silent	SNP	C	C	G			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:33984521C>G	ENST00000296589.4	-	1	314	c.168G>C	c.(166-168)gtG>gtC	p.V56V	SLC45A2_ENST00000509381.1_Silent_p.V56V|SLC45A2_ENST00000342059.3_Silent_p.V56V|SLC45A2_ENST00000345083.5_Silent_p.V56V|SLC45A2_ENST00000382102.3_Silent_p.V56V	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2			48					GGACTGGGGTCACATACGCTG	0.592000													Ovarian(31;380 859 8490 22203 49048)											0							SO:0001819	synonymous_variant			ENST00000296589.4	1	1	hg19	CCDS3901.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	1	0	1	16	52	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	0.999970	16	52	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	1	2	3	2.084628	0	0.460000	1.850000	0.461239	0.990000	6.400000e-01	1.000000	1.000000	0.932565	0.990000	1	0.810000	1.000000
TMEM161B	153396	broad.mit.edu	37	5	87502295	87502295	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr5:87502295C>A	ENST00000296595.6	-	7	744	c.620G>T	c.(619-621)aGt>aTt	p.S207I	TMEM161B_ENST00000512429.1_Missense_Mutation_p.S196I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.S207I|TMEM161B_ENST00000506536.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.S25I|TMEM161B_ENST00000509387.1_Missense_Mutation_p.S80I	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B			20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)			CTGCATCGCACTGTCTGAAAA	0.279000																								0							SO:0001583	missense			ENST00000296595.6	0	1	hg19	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891151	0.52014	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429;ENST00000443393;ENST00000509387	.	.	.	5.51	3.71	0.42584	.	0.186558	0.64402	D	0.000002	T	0.67382	0.2887	M	0.67397	2.05	0.80722	D	1	B;B	0.33044	0.083;0.395	P;B	0.44860	0.462;0.164	T	0.70550	-0.4841	9	0.72032	D	0.01	-7.8376	10.9255	0.47189	0.0:0.7979:0.1312:0.0709	.	25;207	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	I	207;207;25;25;196;207;80	.	ENSP00000296595:S207I	S	-	2	0	TMEM161B	87538051	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.025000	0.57225	1.304000	0.44892	0.467000	0.42956	AGT		TCGA-IB-A5SS-01A-11D-A32N-08	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	1	0	1	7	50	0	13	1	7.526785e-01	7	14	0	13	2		0	0	0	0	0	2	1	0.982949	7	50	0	13	2		0	0	0	0	13	2	-13.623610	1	1	0	0		1	1	2	3	2.084628	0	0.460000	1.850000	0.461239	0.550000	2.500000e-01	0.990000	1.000000	0.576708	0.550000	0	0.380000	0.770000
DNAH11	8701	broad.mit.edu	37	7	21657266	21657266	+	Silent	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:21657266C>A	ENST00000409508.3	+	23	4156	c.4125C>A	c.(4123-4125)cgC>cgA	p.R1375R	DNAH11_ENST00000328843.6_Silent_p.R1380R	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					AGGAAGTCCGCGTCTGGGATG	0.483000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19																																																																																					TCGA-IB-A5SS-01A-11D-A32N-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	1	23	90	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	1.000000	23	89	0	27	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	1	2	3	2.085237	0	0.460000	1.850000	0.461239	0.880000	5.900000e-01	1.000000	1.000000	0.871895	0.880000	1	0.730000	1.000000
NEUROD6	63974	broad.mit.edu	37	7	31377972	31377972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:31377972G>A	ENST00000297142.3	-	2	1233	c.911C>T	c.(910-912)gCc>gTc	p.A304V		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6			32					CCTGAACATGGCACCCTGCCC	0.468000																								0							SO:0001583	missense			ENST00000297142.3	0	1	hg19	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629527	0.46944	.	.	ENSG00000164600	ENST00000297142	D	0.95238	-3.65	5.13	5.13	0.70059	.	0.108251	0.64402	D	0.000004	D	0.89181	0.6642	L	0.27053	0.805	0.50813	D	0.999898	B	0.16396	0.017	B	0.18263	0.021	D	0.84308	0.0509	10	0.02654	T	1	-19.6987	18.5931	0.91222	0.0:0.0:1.0:0.0	.	304	Q96NK8	NDF6_HUMAN	V	304	ENSP00000297142:A304V	ENSP00000297142:A304V	A	-	2	0	NEUROD6	31344497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.386000	0.81285	0.650000	0.86243	GCC		TCGA-IB-A5SS-01A-11D-A32N-08	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	0	0	0	5	235	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	0.936113	5	232	0	67	2		0	0	0	0	68	2	-2.802347	1	1	0	0		1	1	2	3	2.085237	0	0.460000	1.850000	0.461239	0.090000	3.000000e-02	0.210000	0.090000	0.107526	0.090000	0	0.050000	0.150000
ASL	435	broad.mit.edu	37	7	65557066	65557066	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr7:65557066G>A	ENST00000304874.9	+	15	1238	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000380839.4_Missense_Mutation_p.R353H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.R359H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	p.R379L(1)		18				L-Arginine(DB00125)	TACCTGGTCCGCAAAGGGGTA	0.637000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000304874.9	0	1	hg19	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	27.0	4.786704	0.90367	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000395331	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	5.5	4.63	0.57726	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.89601	3.045	0.58432	D	0.999999	P;P;B	0.42871	0.792;0.6;0.445	B;B;B	0.43838	0.433;0.077;0.102	D	0.93527	0.6866	10	0.87932	D	0	.	13.5557	0.61757	0.0753:0.0:0.9247:0.0	.	353;359;379	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	H	379;353;379;359	ENSP00000307188:R379H;ENSP00000370219:R353H;ENSP00000378741:R379H;ENSP00000378740:R359H	ENSP00000307188:R379H	R	+	2	0	ASL	65194501	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.997000	0.63921	1.327000	0.45338	0.491000	0.48974	CGC		TCGA-IB-A5SS-01A-11D-A32N-08	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	0	0	0	5	473	1	162	0	6.574152e-02	0	241	1	162	7		0	0	0	0	0	2	0	0.064224	5	464	1	161	12		0	0	0	1	162	2	-1.793686	0	1	121412	3	37	1	1	2	3	2.085237	0	0.460000	1.850000	0.461239	0.040000	0	0.110000	0.040000	0.054248	0.040000	0	0.020000	0.080000
SGCZ	137868	broad.mit.edu	37	8	13947958	13947958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr8:13947958C>T	ENST00000382080.1	-	8	1648	c.933G>A	c.(931-933)tgG>tgA	p.W311*	SGCZ_ENST00000421524.2_Nonsense_Mutation_p.W264*	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta			47					CACTTCAGCTCCACAGGCAGA	0.498000																								0							SO:0001587	stop_gained			ENST00000382080.1	0	1	hg19	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	41	8.963007	0.99018	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.39948	D	0.974498	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7556	0.91832	0.0:1.0:0.0:0.0	.	.	.	.	X	311;264	.	ENSP00000371512:W311X	W	-	3	0	SGCZ	13992329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	TGG		TCGA-IB-A5SS-01A-11D-A32N-08	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	1	0	0	76	314	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1.000000	76	312	0	133	2		0	0	0	0	136	2	-3.555108	1	1	0	0		1	0	0	0	2.074056	0	0.460000	1.850000	0.460000	0.840000	6.800000e-01	1.000000	1.000000	0.849543	0.840000	0	0.750000	0.940000
HSPA5	3309	broad.mit.edu	37	9	128000914	128000914	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:128000914C>T	ENST00000324460.6	-	6	1392	c.1189G>A	c.(1189-1191)Ggt>Agt	p.G397S		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)			23				Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	ACAGCAGCACCATACGCTACA	0.478000										Prostate(1;0.17)														0							SO:0001583	missense			ENST00000324460.6	1	1	hg19	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	33	5.269740	0.95429	.	.	ENSG00000044574	ENST00000324460	T	0.74526	-0.85	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.99937	4.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96722	0.9533	10	0.87932	D	0	-2.7014	16.4549	0.84009	0.0:1.0:0.0:0.0	.	397	P11021	GRP78_HUMAN	S	397	ENSP00000324173:G397S	ENSP00000324173:G397S	G	-	1	0	HSPA5	127040735	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.097000	0.63578	0.563000	0.77884	GGT		TCGA-IB-A5SS-01A-11D-A32N-08	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1	1	0	1	58	188	0	86	1	1	819	2245	0	86	2		0	0	0	0	0	2	1	1.000000	58	183	0	86	2		0	0	0	0	86	2	-3.784387	1	1	0	0		1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.990000	8.000000e-01	1.000000	1.000000	0.966002	0.990000	1	0.900000	1.000000
C9orf106	414318	broad.mit.edu	37	9	132084600	132084600	+	RNA	SNP	C	C	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:132084600C>A	ENST00000316786.1	+	0	561							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106			4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)			TGGCTCTGCCCTCAGAGCACT	0.612000																								0											ENST00000316786.1	1	1	hg19																																																																																					TCGA-IB-A5SS-01A-11D-A32N-08	C9orf106-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054576.2	0	0	0	45	144	0	69	0	0	0	1	0	69	2		0	0	0	0	0	2	1	1.000000	46	142	0	69	2		0	0	0	0	69	2	-4.126252	1	1	0	0		1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.990000	7.800000e-01	1.000000	1.000000	0.964240	0.990000	1	0.890000	1.000000
LCN9	392399	broad.mit.edu	37	9	138557549	138557549	+	Silent	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:138557549C>T	ENST00000277526.3	+	5	426	c.426C>T	c.(424-426)tgC>tgT	p.C142C	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9			6		Myeloproliferative disorder(178;0.0821)			AAGAAACCTGCGAAAAGTACG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000277526.3	1	1	hg19	CCDS56593.1																																																																																				TCGA-IB-A5SS-01A-11D-A32N-08	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1	1	0	1	16	61	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.999962	15	61	0	34	2		0	0	0	0	34	2	-20.000000	1	1	120860	1	30	1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.900000	5.600000e-01	1.000000	1.000000	0.873432	0.900000	1	0.710000	1.000000
SNAPC4	6621	broad.mit.edu	37	9	139272186	139272186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:139272186G>A	ENST00000298532.2	-	21	4461	c.4093C>T	c.(4093-4095)Cgg>Tgg	p.R1365W		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa			33		Myeloproliferative disorder(178;0.0511)			AACCGCGCCCGCAACAGGAGG	0.726000																								0							SO:0001583	missense			ENST00000298532.2	0	1	hg19	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610741	0.28712	0.0	2.33E-4	ENSG00000165684	ENST00000298532	T	0.24908	1.83	4.06	1.66	0.24008	.	0.196559	0.34507	N	0.003920	T	0.19167	0.0460	L	0.40543	1.245	0.09310	N	1	B	0.26081	0.141	B	0.14023	0.01	T	0.15694	-1.0428	10	0.87932	D	0	-13.5129	10.0768	0.42366	0.0:0.0:0.3652:0.6348	.	1365	Q5SXM2	SNPC4_HUMAN	W	1365	ENSP00000298532:R1365W	ENSP00000298532:R1365W	R	-	1	2	SNAPC4	138392007	0.983000	0.35010	0.012000	0.15200	0.005000	0.04900	1.417000	0.34770	0.044000	0.15775	-0.408000	0.06270	CGG		TCGA-IB-A5SS-01A-11D-A32N-08	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	0	0	0	4	123	0	50	0	3.064773e-01	0	29	0	50	2		0	0	0	0	0	2	1	0.889710	4	122	0	50	2		0	0	0	0	50	2	-6.565011	1	1	120812	3	32	1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.150000	4.000000e-02	0.320000	0.140000	0.166582	0.150000	0	0.090000	0.230000
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			TCCGCCACTCGGGCGCTGCCC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	GRCh37	CM940227	CDKN2A	M	rs121913387	SO:0001587	stop_gained			ENST00000304494.5	0	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		TCGA-IB-A5SS-01A-11D-A32N-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	18	59	0	28	1	9.999927e-01	68	9	0	28	2	1	9.987984e-01	10	31	0	31	2	1	0.999991	18	57	0	28	2		0	0	0	0	28	2	-3.658803	1	1	0	0		1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.990000	6.500000e-01	1.000000	1.000000	0.932111	0.990000	1	0.810000	1.000000
RUSC2	9853	broad.mit.edu	37	9	35555589	35555589	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:35555589T>A	ENST00000455600.1	+	3	3116	c.2547T>A	c.(2545-2547)caT>caA	p.H849Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2			32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		ACCGGCTCCATGGAACAGGAA	0.647000																								0							SO:0001583	missense			ENST00000455600.1	1	1	hg19	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328553	0.60743	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.23348	1.91;1.91	4.15	4.15	0.48705	.	0.295723	0.38272	N	0.001756	T	0.25306	0.0615	L	0.29908	0.895	0.39729	D	0.971581	D	0.61697	0.99	P	0.50537	0.643	T	0.02901	-1.1096	10	0.37606	T	0.19	-8.6196	11.4069	0.49902	0.0:0.0:0.0:1.0	.	849	Q8N2Y8	RUSC2_HUMAN	Q	849	ENSP00000355177:H849Q;ENSP00000393922:H849Q	ENSP00000355177:H849Q	H	+	3	2	RUSC2	35545589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.372000	0.44257	1.863000	0.54032	0.533000	0.62120	CAT		TCGA-IB-A5SS-01A-11D-A32N-08	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	1	0	1	82	243	0	107	1	9.999999e-01	18	58	0	107	2		0	0	0	0	0	2	1	1.000000	82	242	0	106	2		0	0	0	0	107	2	-20.000000	1	1	0	0		1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.990000	8.900000e-01	1.000000	1.000000	0.990686	0.990000	1	0.980000	1.000000
ZCCHC7	84186	broad.mit.edu	37	9	37349387	37349387	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5SS-01A-11D-A32N-08	TCGA-IB-A5SS-10A-01D-A32N-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	4edf9fdf-c3aa-45be-a8eb-593e5e51c1bf	735bd846-c248-4ee8-a1bb-08a3f8738776	g.chr9:37349387C>T	ENST00000336755.5	+	7	1127	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.P51S	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7			30					GCCGAAGACCCCTTCAAGACC	0.418000																								0							SO:0001583	missense			ENST00000336755.5	1	1	hg19	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125878	0.20959	.	.	ENSG00000147905	ENST00000336755;ENST00000534928	T;T	0.75938	-0.98;-0.98	5.7	3.63	0.41609	Zinc finger, CCHC retroviral-type (1);	0.593530	0.19292	N	0.117876	T	0.57344	0.2047	L	0.40543	1.245	0.32348	N	0.558818	B	0.20052	0.041	B	0.20767	0.031	T	0.51865	-0.8651	10	0.07813	T	0.8	-13.1561	4.7253	0.12938	0.188:0.6049:0.0:0.2071	.	341	Q8N3Z6	ZCHC7_HUMAN	S	341;51	ENSP00000337839:P341S;ENSP00000443113:P51S	ENSP00000337839:P341S	P	+	1	0	ZCCHC7	37339387	0.952000	0.32445	1.000000	0.80357	0.896000	0.52359	1.796000	0.38794	1.413000	0.46997	-0.289000	0.09944	CCT		TCGA-IB-A5SS-01A-11D-A32N-08	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	1	0	1	53	187	0	84	1	9.998260e-01	16	33	0	84	2		0	0	0	0	0	2	1	1.000000	53	184	0	82	2		0	0	0	0	84	2	-3.307612	1	1	121412	2	33	1	0	1	1	2.067028	0	0.460000	1.850000	0.458755	0.950000	7.400000e-01	1.000000	1.000000	0.932823	0.950000	1	0.840000	1.000000
