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
STK11	6794	broad.mit.edu	37	19	1207204	1207204	+	Splice_Site	DEL	T	T	-	rs112235354		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1207204delT	ENST00000326873.7	+	1	1463		c.e1+2		STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	p.0?(20)|p.?(3)		328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)			CGTGAAGAAGTAAGTATGGCT	0.597000		14	D, Mis, N, F, S		NSCLC, pancreatic	jejunal harmartoma, ovarian, testicular, pancreatic			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		E, M, O	23	Whole gene deletion(20)|Unknown(3)						SO:0001630	splice_region_variant	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	ENST00000326873.7	0	1	hg19	CCDS45896.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	1	0	0	13	71	0	13	1	9.998439e-01	3	90	0	13	2	1	1	167	823	0	569	2	1	0.999654	13	70	0	13	2	0	0	0	0	0	0		-19.999150	1	1	0	0		1	0	3	3	1.828633	1	0.220000	3.280000	0.278713	0.990000	0.900000	1.000000	1.000000	0.994431	0.990000	1	9.900000e-01	1
SEC24D	9871	broad.mit.edu	37	4	119686069	119686069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:119686069delG	ENST00000280551.6	-	10	1422	c.1184delC	c.(1183-1185)ccafs	p.P396fs	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.P27fs|SEC24D_ENST00000379735.5_Frame_Shift_Del_p.P397fs|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D			37					ATAGAATGGTGGAACTAATAA	0.323000																								0							SO:0001589	frameshift_variant			ENST00000280551.6	0	1	hg19	CCDS3710.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4	1	0	0	31	456	0	76	0	6.517573e-01	0	34	0	76	2			0	0	0	0		1	0.678844	45	451	2	76	29	0	0	0	0	0	0		-2.806919	1	1	0	0		1	1	2	3	1.965441	0	0.220000	3.280000	0.297297	0.640000	0.440000	0.880000	0.630000	0.657001	0.640000	0	5.300000e-01	7.600000e-01
HPS1	3257	broad.mit.edu	37	10	100185374	100185374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:100185374C>T	ENST00000325103.6	-	13	1492	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R420H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1			23		Colorectal(252;0.234)			GGGCTGGGAGCGCAGGGAGGC	0.637000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense	Familial Cancer Database	HPS, HPS1-8	ENST00000325103.6	1	1	hg19	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916483	0.73098	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.33438	1.41;1.41;1.41	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.999;1.0	T	0.60125	-0.7324	10	0.48119	T	0.1	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	58;387;420;420	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	H	420;420;387;215	ENSP00000326649:R420H;ENSP00000355310:R420H;ENSP00000352652:R215H	ENSP00000326649:R420H	R	-	2	0	HPS1	100175364	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.418000	0.66429	2.524000	0.85096	0.561000	0.74099	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	1	0	1	25	168	0	28	1	9.931675e-01	8	48	0	28	2		0	0	0	0	0	2	1	1.000000	25	167	0	28	2		0	0	0	0	28	2	-20.000000	1	1	0	0		1	2	2	4	2.132970	1	0.220000	3.280000	0.360656	0.990000	0.970000	1.000000	1.000000	0.997602	0.990000	1	9.900000e-01	1
PPRC1	23082	broad.mit.edu	37	10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			CGCCGAGGCCGCAACAGCCGT	0.627000																								0							SO:0001583	missense			ENST00000278070.2	0	1	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149221	0.21288	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.04	3.19	0.36642	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.80722	D	1	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.9659	0.53035	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.955000	0.49121	0.805000	0.34159	-0.379000	0.06801	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	0	6	519	0	104	0	3.037268e-01	0	84	0	104	2		0	0	0	0	0	2	1	0.961890	6	504	0	100	2		0	0	0	0	104	2	-2.256889	0	1	121412	2	37	1	2	2	4	2.132970	1	0.220000	3.280000	0.360656	0.130000	0.040000	0.260000	0.120000	0.146859	0.130000	0	8.000000e-02	2.000000e-01
SFXN4	119559	broad.mit.edu	37	10	120905815	120905815	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:120905815G>C	ENST00000355697.2	-	13	888	c.869C>G	c.(868-870)tCt>tGt	p.S290C	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4			11		Lung NSC(174;0.094)|all_lung(145;0.123)			GACAGTACAAGACAGTTTCAA	0.433000																								0							SO:0001583	missense			ENST00000355697.2	1	1	hg19	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123757	0.37436	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T	0.30182	1.54;1.54	5.07	2.86	0.33363	.	0.835144	0.10718	N	0.642040	T	0.36331	0.0963	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	P	0.56788	0.806	T	0.21724	-1.0237	10	0.38643	T	0.18	-13.2476	2.1131	0.03708	0.1085:0.1772:0.4529:0.2614	.	290	Q6P4A7	SFXN4_HUMAN	C	290;281;173;174	ENSP00000347924:S290C;ENSP00000333200:S281C	ENSP00000333200:S281C	S	-	2	0	SFXN4	120895805	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	1.193000	0.32162	1.240000	0.43803	0.650000	0.86243	TCT		TCGA-IB-A6UG-01A-32D-A33T-08	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	1	0	1	94	452	0	87	1	9.999988e-01	18	77	0	87	2		0	0	0	0	0	2	1	1.000000	92	447	0	86	2		0	0	0	0	87	2	-20.000000	1	1	121412	2	34	1	2	2	4	2.132970	1	0.220000	3.280000	0.360656	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PTPRE	5791	broad.mit.edu	37	10	129871718	129871718	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:129871718G>T	ENST00000254667.3	+	17	1861	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L|PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E			22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)		Alendronate(DB00630)	GCTGACGGAGGTGCAGGAGAG	0.597000													Colon(52;977 1184 20575 41685)											0							SO:0001583	missense			ENST00000254667.3	1	1	hg19	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649108	0.03506	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.09538	2.97;2.97;2.97	4.75	2.82	0.32997	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.089012	0.46758	D	0.000262	T	0.01489	0.0048	N	0.00047	-2.435	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.42137	-0.9469	10	0.02654	T	1	.	8.7131	0.34395	0.0777:0.286:0.6363:0.0	.	506;528;470;528	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	L	528;506;528;470	ENSP00000254667:V528L;ENSP00000402337:V528L;ENSP00000303350:V470L	ENSP00000254667:V528L	V	+	1	0	PTPRE	129761708	1.000000	0.71417	0.989000	0.46669	0.609000	0.37215	2.058000	0.41374	0.557000	0.29117	0.563000	0.77884	GTG		TCGA-IB-A6UG-01A-32D-A33T-08	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1	1	0	1	36	157	0	30	1	9.973142e-01	17	26	0	30	2		0	0	0	0	0	2	1	1.000000	36	155	0	30	2		0	0	0	0	30	2	-20.000000	1	1	0	0		1	2	2	4	2.119299	1	0.220000	3.280000	0.358342	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
PWWP2B	170394	broad.mit.edu	37	10	134218205	134218205	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:134218205C>T	ENST00000305233.5	+	2	260	c.201C>T	c.(199-201)ggC>ggT	p.G67G	PWWP2B_ENST00000368609.4_Silent_p.G67G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B			9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)			ACAGCCATGGCCGGGCTCCCG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000305233.5	0	1	hg19	CCDS7667.2																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	0	0	0	7	854	0	174	0	2.190184e-01	0	94	0	174	2		0	0	0	0	0	2	1	0.980055	6	848	0	171	2		0	0	0	0	174	2	-2.326966	0	1	0	0		1	2	2	4	2.119299	1	0.220000	3.280000	0.358342	0.090000	0.020000	0.200000	0.080000	0.111177	0.090000	0	6.000000e-02	1.400000e-01
ANKRD30A	91074	broad.mit.edu	37	10	37508147	37508147	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:37508147A>T	ENST00000602533.1	+	34	3438	c.3339A>T	c.(3337-3339)aaA>aaT	p.K1113N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1232N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A			158					GGCAGCTTAAAGTTCTGATAG	0.353000																								0							SO:0001583	missense			ENST00000602533.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	a	0	-2.770045	0.00081	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.11385	2.78;2.78	2.81	-1.34	0.09143	.	.	.	.	.	T	0.03011	0.0089	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41288	-0.9517	9	0.02654	T	1	.	0.8546	0.01179	0.1973:0.1254:0.1857:0.4916	.	1169	Q9BXX3	AN30A_HUMAN	N	1113;1232	ENSP00000354432:K1113N;ENSP00000363792:K1232N	ENSP00000354432:K1113N	K	+	3	2	ANKRD30A	37548153	0.893000	0.30496	0.000000	0.03702	0.001000	0.01503	1.090000	0.30902	-0.603000	0.05767	-0.457000	0.05445	AAA		TCGA-IB-A6UG-01A-32D-A33T-08	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	1	0	1	130	642	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	1.000000	130	635	0	135	2		0	0	0	0	136	2	-20.000000	1	0	0	0		1	2	2	4	2.128278	1	0.220000	3.280000	0.359501	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NEUROG3	50674	broad.mit.edu	37	10	71332359	71332359	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:71332359G>A	ENST00000242462.4	-	2	470	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3			13					GCTCCAGCGCGTACAAGCTGT	0.682000																								0							SO:0001819	synonymous_variant			ENST00000242462.4	0	1	hg19	CCDS31212.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	0	0	0	5	231	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	0.938201	5	231	0	37	2		0	0	0	0	38	2	-6.272953	1	1	121404	7	34	1	2	2	4	2.128278	1	0.220000	3.280000	0.359501	0.250000	0.090000	0.530000	0.230000	0.277002	0.250000	0	1.600000e-01	3.900000e-01
CYP2C9	1559	broad.mit.edu	37	10	96748637	96748637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:96748637G>A	ENST00000260682.6	+	9	1337	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9			34		Colorectal(252;0.0902)		Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCCTGGCCGGCATGGAGCTG	0.453000													Ovarian(54;1266 1406 16072 35076)											0							SO:0001583	missense			ENST00000260682.6	0	1	hg19	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	9.583	1.123983	0.20959	.	.	ENSG00000138109	ENST00000260682	T	0.67865	-0.29	3.41	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.41903	0.1179	N	0.04508	-0.205	0.23425	N	0.997706	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.42932	-0.9422	10	0.87932	D	0	.	9.6892	0.40118	0.0:0.0:0.7903:0.2097	.	442;442	Q5VX92;P11712	.;CP2C9_HUMAN	D	442	ENSP00000260682:G442D	ENSP00000260682:G442D	G	+	2	0	CYP2C9	96738627	1.000000	0.71417	0.996000	0.52242	0.064000	0.16182	6.266000	0.72540	0.741000	0.32674	0.446000	0.29264	GGC		TCGA-IB-A6UG-01A-32D-A33T-08	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	0	0	0	6	679	0	118	0	0	0	1	0	118	2		0	0	0	0	0	2	1	0.963954	6	672	0	116	2		0	0	0	0	118	2	-2.077616	0	1	0	0		1	2	2	4	2.132970	1	0.220000	3.280000	0.360656	0.100000	0.020000	0.210000	0.090000	0.112749	0.100000	0	6.000000e-02	1.600000e-01
OR10G9	219870	broad.mit.edu	37	11	123893818	123893818	+	Silent	SNP	C	C	T	rs145074505		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:123893818C>T	ENST00000375024.1	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9			61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			TGGTGGTTTACGTGCTCACTG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000375024.1	1	1	hg19	CCDS31703.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	1	0	0	216	725	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	1.000000	208	683	0	177	2		0	0	0	0	145	2	-20.000000	1	1	121412	34	48	1	2	3	5	2.326960	1	0.220000	3.280000	0.410609	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NELL1	4745	broad.mit.edu	37	11	20968881	20968881	+	Splice_Site	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:20968881G>T	ENST00000357134.5	+	11	1223		c.e11-1		NELL1_ENST00000298925.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000325319.5_Splice_Site	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)			70					TTGGCTTCCAGGGTGGAGTTT	0.368000																								0							SO:0001630	splice_region_variant			ENST00000357134.5	1	1	hg19	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010372	0.75046	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20925457	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.847000	0.75404	2.941000	0.99782	0.655000	0.94253	.		TCGA-IB-A6UG-01A-32D-A33T-08	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	1	0	0	43	466	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	1.000000	43	458	0	73	2		0	0	0	0	74	2	-2.578431	1	1	0	0		1	2	2	4	2.125679	1	0.220000	3.280000	0.359501	0.930000	0.690000	1.000000	1.000000	0.915721	0.930000	1	8.000000e-01	1
INS-IGF2	723961	broad.mit.edu	37	11	2182109	2182109	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000381330.4_Silent_p.C31C|INS-IGF2_ENST00000481781.1_5'Flank	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough			5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)		GGTGTGAGCCGCACAGGTGTT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000397270.1	0	1	hg19	CCDS41598.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	0	0	0	5	374	0	58	1	9.999979e-01	9	4151	0	58	2		0	0	0	0	0	2	1	0.936626	5	371	0	57	2		0	0	0	0	58	2	-2.721589	1	1	121154	3	34	1	2	2	4	2.125679	1	0.220000	3.280000	0.359501	0.150000	0.050000	0.340000	0.150000	0.173529	0.150000	0	9.000000e-02	2.400000e-01
AHNAK	79026	broad.mit.edu	37	11	62297984	62297984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:62297984G>A	ENST00000378024.4	-	5	4179	c.3905C>T	c.(3904-3906)cCg>cTg	p.P1302L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein			268		Melanoma(852;0.155)			CTTTCCTTCCGGGCCCTCAAG	0.552000																								0							SO:0001583	missense			ENST00000378024.4	1	1	hg19	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	13.14	2.148809	0.37923	.	.	ENSG00000124942	ENST00000378024	T	0.03242	4.0	4.66	4.66	0.58398	.	0.000000	0.31612	U	0.007360	T	0.09379	0.0231	M	0.87827	2.91	0.58432	D	0.999999	P	0.50272	0.933	B	0.39152	0.292	T	0.22173	-1.0224	10	0.45353	T	0.12	.	17.5636	0.87913	0.0:0.0:1.0:0.0	.	1302	Q09666	AHNK_HUMAN	L	1302	ENSP00000367263:P1302L	ENSP00000367263:P1302L	P	-	2	0	AHNAK	62054560	0.997000	0.39634	0.103000	0.21229	0.003000	0.03518	2.440000	0.44855	2.309000	0.77851	0.645000	0.84053	CCG		TCGA-IB-A6UG-01A-32D-A33T-08	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	0	1	215	907	0	193	1	9.999845e-01	26	41	0	193	2		0	0	0	0	0	2	1	1.000000	210	899	0	193	2		0	0	0	0	193	2	-2.554368	1	1	121412	4	40	1	2	2	4	2.130753	1	0.220000	3.280000	0.360656	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HPX	3263	broad.mit.edu	37	11	6461433	6461433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6461433C>T	ENST00000265983.3	-	4	398	c.298G>A	c.(298-300)Gca>Aca	p.A100T	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin			15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)			TGACGGAATGCAGCATCCACA	0.517000																								0							SO:0001583	missense			ENST00000265983.3	0	1	hg19	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412896	0.83340	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.06528	3.29	4.92	4.92	0.64577	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.92122	3.275	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.40496	-0.9560	10	0.87932	D	0	-23.7514	15.653	0.77112	0.0:1.0:0.0:0.0	.	100;100	B7Z8Q4;P02790	.;HEMO_HUMAN	T	100	ENSP00000265983:A100T	ENSP00000265983:A100T	A	-	1	0	HPX	6418009	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.482000	0.53186	2.554000	0.86153	0.555000	0.69702	GCA		TCGA-IB-A6UG-01A-32D-A33T-08	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	0	0	0	6	388	1	56	0	0	0	1	1	56	2		0	0	0	0	0	2	0	0.001447	6	385	1	56	22		0	0	0	1	56	2	-2.624164	1	1	0	0		1	2	2	4	2.125679	1	0.220000	3.280000	0.359501	0.180000	0.060000	0.360000	0.160000	0.194824	0.180000	0	1.100000e-01	2.700000e-01
GAL3ST3	89792	broad.mit.edu	37	11	65810433	65810433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:65810433C>T	ENST00000312006.4	-	3	1122	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A281T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3			14					gccagcgccgcggggATGGCG	0.756000																								0							SO:0001583	missense			ENST00000312006.4	0	1	hg19	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	4.128	0.022068	0.08006	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14640	2.49;2.49	4.49	2.58	0.30949	.	0.711911	0.12996	N	0.422026	T	0.06142	0.0159	N	0.16833	0.445	0.25445	N	0.988058	B	0.34313	0.448	B	0.26517	0.07	T	0.37663	-0.9696	10	0.14656	T	0.56	-8.5029	5.9018	0.18970	0.1877:0.7113:0.0:0.1009	.	281	Q96A11	G3ST3_HUMAN	T	281	ENSP00000308591:A281T;ENSP00000434829:A281T	ENSP00000308591:A281T	A	-	1	0	GAL3ST3	65567009	0.004000	0.15560	0.976000	0.42696	0.149000	0.21700	0.363000	0.20301	0.427000	0.26145	-1.512000	0.00943	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	0	0	0	10	36	0	12		0	0	0	0	12	2		0	0	0	0	0	2	1	0.997696	10	35	0	12	2		0	0	0	0	12	2	-19.999990	1	1	0	0		1	2	2	4	2.130753	1	0.220000	3.280000	0.360656	0.990000	0.990000	1.000000	1.000000	0.999621	0.990000	1	9.900000e-01	1
OR2AG2	338755	broad.mit.edu	37	11	6789727	6789727	+	Silent	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6789727C>A	ENST00000338569.2	-	1	559	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2			28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)			CTATAGCAATCAGGGATGCCA	0.507000																								0							SO:0001819	synonymous_variant			ENST00000338569.2	1	1	hg19	CCDS31413.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	1	0	0	20	329	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.999996	20	327	0	58	2		0	0	0	0	58	2	-19.996120	1	1	0	0		1	2	2	4	2.125679	1	0.220000	3.280000	0.359501	0.640000	0.400000	0.960000	0.640000	0.658070	0.640000	0	5.100000e-01	8.000000e-01
NOS1	4842	broad.mit.edu	37	12	117728173	117728173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:117728173C>T	ENST00000338101.4	-	3	915	c.911G>A	c.(910-912)cGc>cAc	p.R304H	NOS1_ENST00000317775.6_Missense_Mutation_p.R304H|NOS1_ENST00000344089.3_Missense_Mutation_p.A323T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)			117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				CTTGAGGAAGCGTGGACACTT	0.547000													Esophageal Squamous(162;1748 2599 51982 52956)											0							SO:0001583	missense			ENST00000338101.4	1	1	hg19	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.454934|4.454934	0.84209|0.84209	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000344089|ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T|T;T	0.05786|0.01629	3.39|4.77;4.72	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Nitric oxide synthase, oxygenase domain (1);	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.09774|0.09774	0.0240|0.0240	M|M	0.73598|0.73598	2.24|2.24	0.39371|0.39371	D|D	0.96609|0.96609	.|D	.|0.89917	.|1.0	.|P	.|0.62560	.|0.904	T|T	0.00728|0.00728	-1.1591|-1.1591	7|10	0.87932|0.66056	D|D	0|0.02	-33.7598|-33.7598	18.7669|18.7669	0.91876|0.91876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|304	.|P29475	.|NOS1_HUMAN	T|H	323|304	ENSP00000339862:A323T|ENSP00000320758:R304H;ENSP00000337459:R304H	ENSP00000339862:A323T|ENSP00000320758:R304H	A|R	-|-	1|2	0|0	NOS1|NOS1	116212556|116212556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.382000|7.382000	0.79729|0.79729	2.680000|2.680000	0.91292|0.91292	0.467000|0.467000	0.42956|0.42956	GCT|CGC		TCGA-IB-A6UG-01A-32D-A33T-08	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	1	0	1	40	202	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1.000000	40	197	0	37	2		0	0	0	0	37	2	-19.987410	1	1	0	0		1	1	2	3	1.998772	0	0.220000	3.280000	0.273540	0.990000	0.990000	1.000000	1.000000	0.999952	0.990000	1	9.900000e-01	1
CLIP1	6249	broad.mit.edu	37	12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:122825973G>A	ENST00000540338.1	-	10	1819	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1			60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)				TTCCGTGGCGGTATACAGAGC	0.458000																								0							SO:0001583	missense			ENST00000540338.1	0	1	hg19	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC		TCGA-IB-A6UG-01A-32D-A33T-08	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	0	0	0	7	886	0	160	0	1.109853e-01	1	61	0	160	2		0	0	0	0	0	2	1	0.980231	7	881	0	160	2		0	0	0	0	160	2	-2.211683	0	1	0	0		1	1	2	3	1.998772	0	0.220000	3.280000	0.273540	0.090000	0.030000	1.000000	0.080000	0.281781	0.090000	0	5.000000e-02	1
TMEM132D	121256	broad.mit.edu	37	12	130184773	130184773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:130184773G>A	ENST00000422113.2	-	2	876	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D			152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			CCCTGCAGCCGGCAGCTGCCC	0.692000																								0							SO:0001583	missense			ENST00000422113.2	1	1	hg19	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647589	0.67358	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.22	3.2	0.36748	.	0.585904	0.15144	N	0.278095	T	0.37461	0.1004	M	0.86740	2.835	0.32312	N	0.563638	D	0.76494	0.999	P	0.59288	0.855	T	0.56529	-0.7964	9	.	.	.	-33.4486	13.4612	0.61229	0.0:0.0:0.5014:0.4986	.	184	Q14C87	T132D_HUMAN	W	184	ENSP00000408581:R184W	.	R	-	1	2	TMEM132D	128750726	0.099000	0.21834	0.990000	0.47175	0.952000	0.60782	0.262000	0.18460	1.122000	0.41944	0.555000	0.69702	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	0	19	201	0	37	0	0	0	1	0	37	2		0	0	0	0	0	2	1	0.999991	19	196	0	37	2		0	0	0	0	37	2	-20.000000	1	1	121288	2	35	1	1	2	3	1.998772	0	0.220000	3.280000	0.273540	0.910000	0.550000	1.000000	1.000000	0.874464	0.910000	1	7.000000e-01	1
GYS2	2998	broad.mit.edu	37	12	21721886	21721886	+	Nonsense_Mutation	SNP	G	G	A	rs121918419		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21721886G>A	ENST00000261195.2	-	5	990	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	p.R246*(1)		48					ACGGAAGCTCGCTCCATGCAG	0.423000													Colon(149;9 1820 3690 10544 50424)											1	Substitution - Nonsense(1)	GRCh37	CM980965	GYS2	M	rs121918419	SO:0001587	stop_gained			ENST00000261195.2	0	1	hg19	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	39	7.668078	0.98422	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9125	15.0535	0.71894	0.0:0.0:0.8571:0.1429	.	.	.	.	X	246	.	ENSP00000261195:R246X	R	-	1	2	GYS2	21613153	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.419000	0.52728	1.363000	0.46019	0.655000	0.94253	CGA		TCGA-IB-A6UG-01A-32D-A33T-08	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	0	0	0	6	491	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	0.963835	5	486	0	104	2		0	0	0	0	104	2	-2.666693	1	1	121412	48	49	1	2	2	4	2.075980	0	0.220000	3.280000	0.342881	0.140000	0.050000	1.000000	0.140000	0.251676	0.140000	0	9.000000e-02	2.600000e-01
GYS2	2998	broad.mit.edu	37	12	21733405	21733405	+	Silent	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21733405T>C	ENST00000261195.2	-	2	428	c.174A>G	c.(172-174)gaA>gaG	p.E58E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)			48					TCTCTCCCCATTCATCTGCTG	0.378000													Colon(149;9 1820 3690 10544 50424)											0							SO:0001819	synonymous_variant			ENST00000261195.2	1	1	hg19	CCDS8690.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	0	0	0	22	590	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	0.999999	23	587	0	122	2		0	0	0	0	122	2	-3.625987	1	1	121412	1	32	1	2	2	4	2.075980	0	0.220000	3.280000	0.342881	0.400000	0.250000	1.000000	0.400000	0.473870	0.400000	0	3.200000e-01	5.500000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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-A6UG-01A-32D-A33T-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	13	117	0	20	1	5.381532e-01	8	9	0	20	2	1	1	75	401	0	273	2	1	0.999626	13	117	0	20	2	1	1	1812	6219	0	20	2	-7.680973	1	1	121404	2	44	1	2	2	4	2.075980	0	0.220000	3.280000	0.342881	0.990000	0.630000	1.000000	1.000000	0.949861	0.990000	1	8.600000e-01	1
CACNA1C	775	broad.mit.edu	37	12	2797686	2797686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2797686C>T	ENST00000347598.4	+	48	6002	c.6002C>T	c.(6001-6003)gCc>gTc	p.A2001V	CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit			132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGCCTTTTGCCACCCCACCA	0.642000																								0							SO:0001583	missense			ENST00000347598.4	0	1	hg19	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273195	0.40194	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.86	3.97	0.46021	.	1.113020	0.06702	N	0.771686	T	0.53658	0.1810	M	0.62723	1.935	0.26184	N	0.979682	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21520	0.011;0.057;0.01;0.017;0.057;0.026;0.012;0.015;0.007;0.026;0.026;0.01;0.01;0.015;0.006;0.009;0.01;0.008;0.026;0.008;0.012;0.015;0.026;0.01;0.01	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26310	0.037;0.068;0.011;0.027;0.068;0.068;0.024;0.068;0.038;0.024;0.036;0.017;0.033;0.068;0.005;0.031;0.033;0.019;0.036;0.032;0.016;0.036;0.036;0.017;0.011	T	0.47129	-0.9141	10	0.44086	T	0.13	.	9.6655	0.39981	0.0:0.7805:0.1415:0.078	.	644;1994;1950;2036;1988;1972;1953;1970;1981;1953;1973;1953;1984;2001;1953;1988;2024;1961;1959;1961;1942;1972;1972;1953;1953	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1978;1953;1953;1981;1953;1972;1972;1961;1953;2001;1973;1953;1994;1970;1988;1959;1972;1953;2024;1988;2024;1961;1854	ENSP00000336982:A1978V;ENSP00000382563:A1953V;ENSP00000382552:A1953V;ENSP00000382547:A1981V;ENSP00000382506:A1953V;ENSP00000382530:A1972V;ENSP00000382546:A1972V;ENSP00000382500:A1961V;ENSP00000382549:A1953V;ENSP00000266376:A2001V;ENSP00000382515:A1973V;ENSP00000382510:A1953V;ENSP00000341092:A1994V;ENSP00000382537:A1970V;ENSP00000329877:A1988V;ENSP00000382557:A1959V;ENSP00000385724:A1972V;ENSP00000382512:A1953V;ENSP00000382542:A2024V;ENSP00000382526:A1988V;ENSP00000385896:A2024V;ENSP00000382504:A1961V	ENSP00000323129:A1854V	A	+	2	0	CACNA1C	2667947	1.000000	0.71417	0.629000	0.29254	0.517000	0.34286	4.439000	0.59968	1.051000	0.40369	0.462000	0.41574	GCC		TCGA-IB-A6UG-01A-32D-A33T-08	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	0	0	0	7	674	0	92	0	6.417475e-03	0	10	0	92	2		0	0	0	0	0	2	1	0.978730	7	656	0	87	2		0	0	0	0	92	2	-2.350234	0	1	120832	13	39	1	2	2	4	2.062782	0	0.220000	3.280000	0.339207	0.120000	0.040000	1.000000	0.110000	0.247020	0.120000	0	7.000000e-02	2.300000e-01
FMNL3	91010	broad.mit.edu	37	12	50050953	50050953	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:50050953C>T	ENST00000293590.5	-	7	859	c.626G>A	c.(625-627)cGc>cAc	p.R209H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000335154.5_Missense_Mutation_p.R209H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H			Q8IVF7	FMNL3_HUMAN	formin-like 3			39					CAGGGCCCTGCGCCCAGGGAG	0.582000																								0							SO:0001583	missense			ENST00000293590.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.423799	0.96111	0.0	2.39E-4	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.81821	-1.51;-1.5;-1.54;-1.5	5.45	5.45	0.79879	.	0.052637	0.64402	D	0.000001	D	0.89832	0.6829	M	0.77616	2.38	0.49915	D	0.999834	D;D	0.76494	0.999;0.994	D;P	0.80764	0.994;0.754	D	0.89710	0.3911	10	0.52906	T	0.07	.	18.4343	0.90638	0.0:1.0:0.0:0.0	.	158;209	Q8IVF7-2;Q8IVF7-3	.;.	H	209;209;158;209	ENSP00000335655:R209H;ENSP00000447479:R209H;ENSP00000344311:R158H;ENSP00000293590:R209H	ENSP00000293590:R209H	R	-	2	0	FMNL3	48337220	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.865000	0.62998	2.744000	0.94065	0.561000	0.74099	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	81	382	0	89	0	6.474576e-01	0	12	0	89	2		0	0	0	0	0	2	1	1.000000	81	382	0	88	2		0	0	0	0	89	2	-3.361336	1	1	120964	10	41	1	1	2	3	1.998772	0	0.220000	3.280000	0.273540	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NACA	4666	broad.mit.edu	37	12	57108169	57108169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:57108169G>A	ENST00000454682.1	-	5	6081	c.5800C>T	c.(5800-5802)Cgg>Tgg	p.R1934W	NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000550952.1_Missense_Mutation_p.R781W|NACA_ENST00000552540.1_Missense_Mutation_p.R71W|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000548563.1_5'UTR	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit			10					TTTTCACTCCGACTCTGTTTT	0.388000			T	BCL6	NHL										Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0							SO:0001583	missense			ENST00000454682.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	14.69	2.611275	0.46631	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.67345	0.14;-0.1;-0.26;0.16;0.16;0.16;0.16;0.18;0.0;0.03	4.73	3.82	0.43975	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	H	0.95151	3.63	0.53688	D	0.999979	P;D;B	0.59767	0.946;0.986;0.008	P;P;B	0.57960	0.523;0.83;0.002	D	0.86446	0.1770	10	0.87932	D	0	.	11.0665	0.47979	0.0:0.0:0.663:0.337	.	1934;781;71	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	W	69;1934;781;71;71;71;71;71;67;71	ENSP00000448039:R69W;ENSP00000403817:R1934W;ENSP00000448035:R781W;ENSP00000349212:R71W;ENSP00000447821:R71W;ENSP00000377469:R71W;ENSP00000446801:R71W;ENSP00000447133:R71W;ENSP00000450383:R67W;ENSP00000447764:R71W	ENSP00000349212:R71W	R	-	1	2	NACA	55394436	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.742000	0.47434	0.938000	0.37419	0.460000	0.39030	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	NACA-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	25	280	0	51	1	1	269	2777	0	51	2		0	0	0	0	0	2	1	1.000000	24	275	0	51	2		0	0	0	0	51	2	-8.276200	1	1	0	0		1	1	2	3	1.998772	0	0.220000	3.280000	0.273540	0.860000	0.550000	1.000000	1.000000	0.849322	0.860000	1	6.800000e-01	1
ZIC5	85416	broad.mit.edu	37	13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5			9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				TGTATCGTCCGCACAACTTCA	0.483000																								0							SO:0001583	missense			ENST00000267294.4	0	1	hg19	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556755	0.65425	.	.	ENSG00000139800	ENST00000267294	T	0.18016	2.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.29321	0.0730	L	0.36672	1.1	0.35097	D	0.764889	D	0.89917	1.0	D	0.69654	0.965	T	0.18335	-1.0340	9	0.87932	D	0	.	11.1163	0.48262	0.0:0.0:0.7346:0.2654	.	660	Q96T25	ZIC5_HUMAN	W	660	ENSP00000267294:R660W	ENSP00000267294:R660W	R	-	1	2	ZIC5	99415646	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.915000	0.48805	2.871000	0.98454	0.655000	0.94253	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	0	0	0	5	589	0	113	0	1.180399e-04	0	2	0	113	2		0	0	0	0	0	2	1	0.936664	5	585	0	112	2		0	0	0	0	113	2	-2.199264	0	1	121412	10	40	1	0	3	3	1.939135	1	0.220000	3.280000	0.297297	0.090000	0.020000	0.190000	0.090000	0.101150	0.090000	0	5.000000e-02	1.400000e-01
PDS5B	23047	broad.mit.edu	37	13	33258137	33258137	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:33258137A>T	ENST00000315596.10	+	11	1366	c.1180A>T	c.(1180-1182)Aga>Tga	p.R394*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	p.R394*(2)		62		Lung SC(185;0.0367)			TAATTTTGTGAGAGAGAGAAC	0.274000																								2	Substitution - Nonsense(2)						SO:0001587	stop_gained			ENST00000315596.10	0	1	hg19	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	36	5.852697	0.97030	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.11	5.11	0.69529	.	0.045487	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-3.1156	11.2434	0.48982	0.847:0.153:0.0:0.0	.	.	.	.	X	394	.	ENSP00000313851:R394X	R	+	1	2	PDS5B	32156137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.075000	0.50073	2.064000	0.61679	0.482000	0.46254	AGA		TCGA-IB-A6UG-01A-32D-A33T-08	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	0	0	0	5	453	0	96	0	1.793165e-02	0	15	0	96	2		0	0	0	0	0	2	1	0.935675	5	447	0	96	2		0	0	0	0	96	2	-2.167235	0	1	120772	1	23	1	0	3	3	1.939135	1	0.220000	3.280000	0.297297	0.110000	0.030000	0.240000	0.120000	0.130938	0.110000	0	7.000000e-02	1.800000e-01
DIO3	1735	broad.mit.edu	37	14	102028612	102028612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:102028612G>A	ENST00000510508.4	+	1	925	c.779G>A	c.(778-780)cGt>cAt	p.R260H	DIO3_ENST00000359323.3_Missense_Mutation_p.R234H|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III			22		all_neural(303;0.185)			TACTTCGAGCGTCTCTATGTC	0.617000																								0							SO:0001583	missense			ENST00000510508.4	1	1	hg19	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902680	0.92035	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.51325	0.71;0.71	3.86	3.86	0.44501	.	0.000000	0.64402	U	0.000011	T	0.74869	0.3773	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82833	-0.0262	10	0.87932	D	0	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	234	P55073	IOD3_HUMAN	H	234;260	ENSP00000352273:R234H;ENSP00000427336:R260H	ENSP00000352273:R260H	R	+	2	0	DIO3;AL049836.1	101098365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.515000	0.98015	1.998000	0.58463	0.462000	0.41574	CGT		TCGA-IB-A6UG-01A-32D-A33T-08	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	0	0	0	42	413	0	89	0	9.039397e-03	0	2	0	89	2		0	0	0	0	0	2	1	1.000000	42	409	0	88	2		0	0	0	0	89	2	-20.000000	1	1	121040	1	27	1	2	2	4	2.102850	1	0.220000	3.280000	0.351297	0.990000	0.740000	1.000000	1.000000	0.955370	0.990000	1	8.700000e-01	1
RPL10L	140801	broad.mit.edu	37	14	47120810	47120810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:47120810C>A	ENST00000298283.3	-	1	218	c.130G>T	c.(130-132)Gat>Tat	p.D44Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like			27					GGGAACTCATCCACTTTTGCC	0.502000																								0							SO:0001583	missense			ENST00000298283.3	1	1	hg19	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777196	0.70107	.	.	ENSG00000165496	ENST00000298283	T	0.74209	-0.82	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.98629	4.285	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.94002	0.7276	10	0.87932	D	0	-39.9655	15.1202	0.72438	0.0:1.0:0.0:0.0	.	44	Q96L21	RL10L_HUMAN	Y	44	ENSP00000298283:D44Y	ENSP00000298283:D44Y	D	-	1	0	RPL10L	46190560	1.000000	0.71417	0.997000	0.53966	0.495000	0.33615	7.003000	0.76310	2.688000	0.91661	0.655000	0.94253	GAT		TCGA-IB-A6UG-01A-32D-A33T-08	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1	1	0	1	92	477	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1.000000	89	473	0	104	2		0	0	0	0	104	2	-20.000000	1	1	0	0		1	2	2	4	2.102850	1	0.220000	3.280000	0.351297	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MAX	4149	broad.mit.edu	37	14	65560458	65560458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:65560458G>A	ENST00000358664.4	-	3	269	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	MAX_ENST00000556979.1_Missense_Mutation_p.R47W|RP11-840I19.3_ENST00000553633.1_RNA|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000246163.2_Missense_Mutation_p.R47W|MAX_ENST00000557277.1_5'UTR|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000555419.1_Intron|MAX_ENST00000284165.6_Missense_Mutation_p.R47W|MAX_ENST00000555667.1_Missense_Mutation_p.R38W|MAX_ENST00000557746.1_Missense_Mutation_p.R38W|MAX_ENST00000341653.2_Missense_Mutation_p.R47W	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X			17					ACTGAGTCCCGCAAACTGTGA	0.483000																								0							SO:0001583	missense			ENST00000358664.4	0	1	hg19	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499453	0.85069	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000284165;ENST00000358664;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.93	5.93	0.95920	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.997;0.998;0.999;0.998;0.999	D	0.98397	1.0566	10	0.87932	D	0	-5.0518	14.004	0.64451	0.0:0.0:0.8485:0.1515	.	47;47;38;38;47;47;47	Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;MAX_HUMAN;.;.	W	47;38;47;47;54;47;38;38;38;47	ENSP00000342482:R47W;ENSP00000351175:R38W;ENSP00000284165:R47W;ENSP00000351490:R47W;ENSP00000452378:R47W;ENSP00000452286:R38W;ENSP00000452197:R38W;ENSP00000450818:R38W;ENSP00000246163:R47W	ENSP00000246163:R47W	R	-	1	2	MAX	64630211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.132000	0.71676	2.814000	0.96858	0.563000	0.77884	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	0	0	0	5	357	0	63	0	5.284117e-01	0	114	0	63	2		0	0	0	0	0	2	1	0.936120	5	353	0	63	2		0	0	0	0	63	2	-2.047474	0	1	0	0		1	2	2	4	2.102850	1	0.220000	3.280000	0.351297	0.170000	0.050000	1.000000	0.150000	0.232067	0.170000	0	1.000000e-01	2.800000e-01
TRPM1	4308	broad.mit.edu	37	15	31319127	31319127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:31319127G>A	ENST00000256552.6	-	26	3634	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1180C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1			99		all_lung(180;1.92e-11)			CTCAATCCACGATCCCGTTCC	0.463000																								0							SO:0001583	missense			ENST00000256552.6	1	1	hg19	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648605	0.67358	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36878	1.23;1.23;1.23	5.79	5.79	0.91817	.	0.110302	0.64402	D	0.000012	T	0.43656	0.1257	L	0.47716	1.5	0.52501	D	0.999952	P;P	0.47962	0.903;0.843	P;P	0.51229	0.663;0.462	T	0.18461	-1.0336	10	0.48119	T	0.1	-12.7835	13.9482	0.64099	0.0:0.0:0.7473:0.2527	.	1135;1141	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1141;1180;1163;1141	ENSP00000380897:R1141C;ENSP00000437849:R1180C;ENSP00000256552:R1163C	ENSP00000256552:R1163C	R	-	1	0	TRPM1	29106419	0.999000	0.42202	0.962000	0.40283	0.942000	0.58702	2.188000	0.42612	2.736000	0.93811	0.655000	0.94253	CGT		TCGA-IB-A6UG-01A-32D-A33T-08	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	1	0	0	42	429	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1.000000	41	425	0	68	2		0	0	0	0	70	2	-3.318794	1	1	120844	8	41	1	1	2	3	1.965361	0	0.220000	3.280000	0.297297	0.900000	0.660000	1.000000	1.000000	0.891153	0.900000	1	7.700000e-01	1
RYR3	6263	broad.mit.edu	37	15	33822869	33822869	+	Splice_Site	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:33822869T>C	ENST00000389232.4	+	4	424		c.e4+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3			311		all_lung(180;7.18e-09)			AGCGGAATGGTAAGCAGCTCT	0.498000																								0							SO:0001630	splice_region_variant			ENST00000389232.4	0	1	hg19	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703043	0.88924	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0668	0.72002	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31610161	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.637000	0.83313	2.191000	0.70037	0.533000	0.62120	.		TCGA-IB-A6UG-01A-32D-A33T-08	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	1	0	0	5	128	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	0.938752	5	128	0	26	2		0	0	0	0	26	2	-7.910571	1	1	0	0		1	1	2	3	1.965361	0	0.220000	3.280000	0.297297	0.410000	0.150000	0.800000	0.370000	0.440040	0.410000	0	2.600000e-01	6.000000e-01
ISLR2	57611	broad.mit.edu	37	15	74426584	74426584	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:74426584G>A	ENST00000361742.3	+	4	2258	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000435464.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000419208.1_Missense_Mutation_p.E497K|ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2			36					GGCGGAGCGCGAGGCGCGGGT	0.731000																								0							SO:0001583	missense			ENST00000361742.3	0	1	hg19	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082884	0.76642	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.27053	0.805	0.58432	D	0.999995	P	0.48407	0.91	B	0.32805	0.153	T	0.51787	-0.8661	10	0.56958	D	0.05	.	16.6691	0.85261	0.0:0.0:1.0:0.0	.	497	Q6UXK2	ISLR2_HUMAN	K	497	ENSP00000403244:E497K;ENSP00000355402:E497K;ENSP00000411443:E497K;ENSP00000411834:E497K;ENSP00000408872:E497K	ENSP00000355402:E497K	E	+	1	0	ISLR2	72213637	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.347000	0.73004	2.223000	0.72356	0.313000	0.20887	GAG		TCGA-IB-A6UG-01A-32D-A33T-08	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	1	0	0	16	33	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	0.999980	16	33	0	11	2		0	0	0	0	11	2	-20.000000	1	1	0	0		1	1	2	3	1.952518	0	0.220000	3.280000	0.297297	0.990000	0.990000	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LMAN1L	79748	broad.mit.edu	37	15	75115914	75115914	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75115914G>A	ENST00000309664.5	+	12	1353	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like			19					GCAGCTGTCCGCATGGCTGCA	0.557000																								0							SO:0001583	missense			ENST00000309664.5	0	1	hg19	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.673992	0.14841	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39406	1.11;1.08	5.18	-5.19	0.02832	.	1.400440	0.04515	N	0.383606	T	0.25158	0.0611	N	0.22421	0.69	0.25604	N	0.986564	B;B	0.14012	0.009;0.005	B;B	0.09377	0.004;0.002	T	0.18493	-1.0335	10	0.33940	T	0.23	.	6.2762	0.20981	0.2272:0.0:0.5161:0.2567	.	393;405	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	H	405;393	ENSP00000310431:R405H;ENSP00000369031:R393H	ENSP00000310431:R405H	R	+	2	0	LMAN1L	72902967	0.000000	0.05858	0.052000	0.19188	0.262000	0.26303	-0.908000	0.04063	-0.806000	0.04398	0.561000	0.74099	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4	0	0	0	5	374	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.935285	5	368	0	61	2		0	0	0	0	61	2	-3.068703	1	1	121412	14	42	1	1	2	3	1.952518	0	0.220000	3.280000	0.297297	0.140000	0.040000	0.290000	0.130000	0.157920	0.140000	0	8.000000e-02	2.200000e-01
ACAN	176	broad.mit.edu	37	15	89388927	89388927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:89388927G>A	ENST00000561243.1	+	6	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ACAN_ENST00000559004.1_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_Missense_Mutation_p.E415K|ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000439576.2_Missense_Mutation_p.E415K			P16112	PGCA_HUMAN	aggrecan			93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)		CCTGGAACCCGAGGAGCCCTT	0.612000																								0							SO:0001583	missense			ENST00000561243.1	1	1	hg19	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010026	0.35415	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02236	4.62;4.38	5.52	3.57	0.40892	.	.	.	.	.	T	0.02494	0.0076	M	0.68952	2.095	0.09310	N	0.999998	P;P;P	0.43352	0.804;0.804;0.477	B;B;B	0.33392	0.124;0.163;0.032	T	0.38672	-0.9650	9	0.14252	T	0.57	-5.9214	6.9498	0.24538	0.0925:0.1781:0.7295:0.0	.	415;415;415	E7ENV9;E7EX88;Q6PID9	.;.;.	K	415	ENSP00000387356:E415K;ENSP00000341615:E415K	ENSP00000268134:E415K	E	+	1	0	ACAN	87189931	0.576000	0.26700	0.684000	0.30055	0.329000	0.28539	1.208000	0.32345	1.410000	0.46936	0.591000	0.81541	GAG		TCGA-IB-A6UG-01A-32D-A33T-08	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	1	0	0	21	198	0	42	0	0	0	1	0	42	2		0	0	0	0	0	2	1	0.999998	21	196	0	40	2		0	0	0	0	42	2	-3.017773	1	1	121126	2	36	1	1	2	3	1.952518	0	0.220000	3.280000	0.297297	0.970000	0.630000	1.000000	1.000000	0.916758	0.970000	1	7.800000e-01	1
ZC3H7A	29066	broad.mit.edu	37	16	11859420	11859420	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:11859420G>A	ENST00000396516.2	-	13	1841	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZC3H7A_ENST00000355758.4_Silent_p.G548G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A			25					TTCCATTGCCGCCAAAGAAAG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000396516.2	0	1	hg19	CCDS10550.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	0	0	0	5	503	1	71	0	1.979483e-03	0	61	1	71	5		0	0	0	0	0	2	0	0.000601	5	499	1	71	22		0	0	0	1	71	2	-2.258984	0	1	121412	1	34	1	1	2	3	1.970767	0	0.220000	3.280000	0.297297	0.100000	0.030000	0.220000	0.090000	0.118155	0.100000	0	6.000000e-02	1.600000e-01
IRX6	79190	broad.mit.edu	37	16	55361532	55361532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:55361532C>T	ENST00000290552.7	+	4	1780	c.448C>T	c.(448-450)Cga>Tga	p.R150*	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6			33					CGCCGGTCGCCGAAAGAACGC	0.577000																								0							SO:0001587	stop_gained			ENST00000290552.7	0	1	hg19	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	47	13.157336	0.99723	.	.	ENSG00000159387	ENST00000290552	.	.	.	6.08	-6.48	0.01896	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7892	21.412	0.99953	0.7449:0.2551:0.0:0.0	.	.	.	.	X	150	.	ENSP00000290552:R150X	R	+	1	2	IRX6	53919033	0.747000	0.28283	0.913000	0.36048	0.165000	0.22458	1.262000	0.32992	-1.091000	0.03065	-0.989000	0.02550	CGA		TCGA-IB-A6UG-01A-32D-A33T-08	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	1	0	0	12	166	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.999163	12	164	0	30	2		0	0	0	0	31	2	-15.938870	1	1	121412	2	31	1	1	2	3	1.953366	0	0.220000	3.280000	0.297297	0.690000	0.380000	1.000000	1.000000	0.710069	0.690000	0	5.200000e-01	9.000000e-01
SETD6	79918	broad.mit.edu	37	16	58550831	58550831	+	Splice_Site	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:58550831C>T	ENST00000219315.4	+	5	841	c.791C>T	c.(790-792)gCg>gTg	p.A264V	SETD6_ENST00000394266.4_Splice_Site_p.A195V|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Splice_Site_p.A240V			Q8TBK2	SETD6_HUMAN	SET domain containing 6			7					GAATACTCTGCGGTGAGTGGA	0.463000																								0							SO:0001630	splice_region_variant			ENST00000219315.4	0	1	hg19	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295317	0.60086	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.14022	2.54;2.54;2.54	5.42	4.46	0.54185	SET domain (2);	0.231004	0.44097	D	0.000482	T	0.11965	0.0291	L	0.48642	1.525	0.36533	D	0.870835	P;P;P	0.42039	0.563;0.769;0.558	B;B;B	0.32724	0.039;0.151;0.023	T	0.17137	-1.0379	10	0.35671	T	0.21	-2.8694	14.3423	0.66636	0.1576:0.8424:0.0:0.0	.	240;264;240	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	V	240;195;264	ENSP00000310082:A240V;ENSP00000377809:A195V;ENSP00000219315:A264V	ENSP00000219315:A264V	A	+	2	0	SETD6	57108332	0.966000	0.33281	0.999000	0.59377	0.365000	0.29674	2.801000	0.47908	1.237000	0.43756	0.491000	0.48974	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	0	0	0	5	642	0	148	0	7.028587e-02	0	45	0	148	2		0	0	0	0	0	2	1	0.937246	5	640	0	147	2		0	0	0	0	148	2	-2.103654	0	1	0	0		1	1	2	3	1.953366	0	0.220000	3.280000	0.297297	0.080000	0.020000	0.170000	0.090000	0.092888	0.080000	0	4.000000e-02	1.300000e-01
GLG1	2734	broad.mit.edu	37	16	74527016	74527016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:74527016C>T	ENST00000422840.2	-	7	1072	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	GLG1_ENST00000205061.5_Missense_Mutation_p.R358H|GLG1_ENST00000447066.2_Missense_Mutation_p.R347H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1			57					CAGCTTTTGGCGGGTTGTAAG	0.443000																								0							SO:0001583	missense			ENST00000422840.2	0	1	hg19	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459970	0.96240	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.83731	0.0198	9	0.72032	D	0.01	-3.7566	19.793	0.96468	0.0:1.0:0.0:0.0	.	358;358;347	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	H	358;347;358	.	ENSP00000205061:R358H	R	-	2	0	GLG1	73084517	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.564000	0.82326	2.744000	0.94065	0.655000	0.94253	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	0	0	0	6	482	0	85	0	2.739205e-01	0	72	0	85	2		0	0	0	0	0	2	1	0.963582	6	475	0	85	2		0	0	0	0	85	2	-1.829765	0	1	0	0		1	1	2	3	1.964395	0	0.220000	3.280000	0.297297	0.130000	0.040000	0.260000	0.120000	0.143460	0.130000	0	8.000000e-02	1.900000e-01
CDH15	1013	broad.mit.edu	37	16	89251637	89251637	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:89251637G>C	ENST00000289746.2	+	5	624	c.559G>C	c.(559-561)Gca>Cca	p.A187P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)			18					GACGGACAACGCAGCGCTGCG	0.662000																								0							SO:0001583	missense			ENST00000289746.2	1	1	hg19	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090995	0.76756	.	.	ENSG00000129910	ENST00000289746	T	0.54675	0.56	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000065	T	0.80722	0.4677	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86687	0.1920	10	0.59425	D	0.04	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	187	P55291	CAD15_HUMAN	P	187	ENSP00000289746:A187P	ENSP00000289746:A187P	A	+	1	0	CDH15	87779138	1.000000	0.71417	0.840000	0.33206	0.279000	0.26890	9.248000	0.95456	2.187000	0.69744	0.462000	0.41574	GCA		TCGA-IB-A6UG-01A-32D-A33T-08	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	1	0	1	16	74	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	0.999962	16	74	0	15	2		0	0	0	0	15	2	-20.000000	1	1	0	0		1	1	2	3	1.964395	0	0.220000	3.280000	0.297297	0.990000	0.990000	1.000000	1.000000	0.999126	0.990000	1	9.900000e-01	1
TTC19	54902	broad.mit.edu	37	17	15903527	15903527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:15903527G>A	ENST00000261647.5	+	2	749	c.280G>A	c.(280-282)Gca>Aca	p.A94T	TTC19_ENST00000486880.2_Missense_Mutation_p.A215T|ZSWIM7_ENST00000472495.1_5'Flank|ZSWIM7_ENST00000399277.1_5'Flank|ZSWIM7_ENST00000399280.2_5'Flank|ZSWIM7_ENST00000486655.1_5'Flank|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19			5					CGAGGCCGAGGCAGAGATCAT	0.731000																								0							SO:0001583	missense			ENST00000261647.5	0	1	hg19	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688773	0.29962	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	D	0.83419	-1.72	5.06	4.02	0.46733	.	0.498025	0.19407	N	0.115021	T	0.74313	0.3700	L	0.28115	0.83	0.26820	N	0.968808	.	.	.	.	.	.	T	0.62210	-0.6902	8	0.14656	T	0.56	-9.3213	12.296	0.54847	0.0:0.1872:0.8128:0.0	.	.	.	.	T	94;215;94	ENSP00000261647:A94T	ENSP00000261647:A215T	A	+	1	0	TTC19	15844252	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	2.821000	0.48065	2.355000	0.79922	0.549000	0.68633	GCA		TCGA-IB-A6UG-01A-32D-A33T-08	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	1	0	0	18	107	0	15	1	9.771074e-01	9	31	0	15	2		0	0	0	0	0	2	1	0.999986	17	105	0	15	2		0	0	0	0	15	2	-20.000000	1	1	0	0		1	0	2	2	1.799994	1	0.220000	3.280000	0.220000	0.990000	0.810000	1.000000	1.000000	0.987035	0.990000	1	9.900000e-01	1
FBXW10	10517	broad.mit.edu	37	17	18671872	18671872	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:18671872T>C	ENST00000395665.4	+	10	1951	c.1730T>C	c.(1729-1731)gTg>gCg	p.V577A	FBXW10_ENST00000308799.4_Missense_Mutation_p.V606A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10			42					GAGGGAGCCGTGAAATGCCTG	0.527000																								0							SO:0001583	missense			ENST00000395665.4	0	1	hg19	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095926	0.36952	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	2.97	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.081272	0.49305	U	0.000154	D	0.86439	0.5933	M	0.90542	3.125	0.42816	D	0.993975	D;D;D;D	0.89917	0.999;0.998;0.997;1.0	D;D;D;D	0.83275	0.991;0.99;0.992;0.996	D	0.87673	0.2542	10	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:0.0:1.0	.	577;606;577;577	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	577;606;577;577	ENSP00000379026:V577A;ENSP00000310382:V606A;ENSP00000306937:V577A;ENSP00000379025:V577A	ENSP00000306937:V577A	V	+	2	0	FBXW10	18612597	1.000000	0.71417	0.971000	0.41717	0.150000	0.21749	6.656000	0.74396	1.356000	0.45884	0.163000	0.16589	GTG		TCGA-IB-A6UG-01A-32D-A33T-08	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	0	0	0	5	292	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	0.935813	5	288	0	40	2		0	0	0	0	40	2	-3.274253	1	1	0	0		1	1	2	3	1.986990	0	0.220000	3.280000	0.297297	0.180000	0.060000	0.370000	0.180000	0.200883	0.180000	0	1.100000e-01	2.800000e-01
KCNJ12	3768	broad.mit.edu	37	17	21319100	21319100	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:21319100G>A	ENST00000583088.1	+	3	1341	c.446G>A	c.(445-447)cGc>cAc	p.R149H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12			70				Dofetilide(DB00204)|Yohimbine(DB01392)	TACGGGCTGCGCTGTGTGACG	0.642000										Prostate(3;0.18)														0							SO:0001583	missense			ENST00000583088.1	1	1	hg19	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998856	0.93227	.	.	ENSG00000184185	ENST00000331718	D	0.97016	-4.21	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99663	1.0994	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	149	Q14500	IRK12_HUMAN	H	149	ENSP00000328150:R149H	ENSP00000328150:R149H	R	+	2	0	KCNJ12	21259693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	0	16	321	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	0.999930	16	316	0	54	2		0	0	0	0	56	2	-17.287860	1	1	121410	43	40	1	1	2	3	1.999556	0	0.220000	3.280000	0.297297	0.480000	0.280000	0.740000	0.480000	0.502480	0.480000	0	3.700000e-01	6.200000e-01
GIT1	28964	broad.mit.edu	37	17	27908966	27908966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:27908966C>T	ENST00000225394.3	-	5	850	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|GIT1_ENST00000581348.1_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1			9					AATGGGTGTGCGGCCATTAAC	0.627000													Colon(81;41 1719 20078 35068)											0							SO:0001583	missense			ENST00000225394.3	0	1	hg19	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063141	0.76187	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.66460	-0.21;-0.21	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.45470	1.425	0.51012	D	0.999901	P;P;P;P	0.39250	0.665;0.482;0.538;0.538	B;B;B;B	0.37650	0.255;0.094;0.153;0.108	T	0.67381	-0.5685	10	0.56958	D	0.05	.	18.7075	0.91644	0.0:1.0:0.0:0.0	.	205;201;201;201	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	201	ENSP00000225394:R201H;ENSP00000378338:R201H	ENSP00000225394:R201H	R	-	2	0	GIT1	24933092	0.094000	0.21725	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	2.826000	0.97356	0.655000	0.94253	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	0	0	0	5	327	0	63	0	2.537132e-01	0	54	0	63	2		0	0	0	0	0	2	1	0.935993	5	323	0	63	2		0	0	0	0	63	2	-2.931837	1	1	121356	4	35	1	1	2	3	1.999556	0	0.220000	3.280000	0.297297	0.160000	0.050000	0.330000	0.150000	0.179983	0.160000	0	1.000000e-01	2.500000e-01
CACNA1G	8913	broad.mit.edu	37	17	48649968	48649968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:48649968G>A	ENST00000359106.5	+	6	800	c.800G>A	c.(799-801)aGc>aAc	p.S267N	CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit			47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)	Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGATGAGAGCCCCTTCATC	0.667000																								0							SO:0001583	missense			ENST00000359106.5	0	1	hg19	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	5.134	0.210390	0.09757	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96522	-3.9;-3.9;-4.04;-3.84;-3.9;-3.91;-3.92;-4.01;-3.98;-3.99;-4.0;-3.87;-3.87;-3.94;-3.89;-3.85;-3.92;-3.89;-3.87;-3.92;-3.91;-3.87;-3.93;-3.87;-3.94;-3.94	5.36	4.37	0.52481	Ion transport (1);	0.547135	0.21976	N	0.066369	D	0.85991	0.5826	N	0.03608	-0.345	0.24066	N	0.995992	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15052	0.008;0.003;0.003;0.003;0.007;0.002;0.012;0.007;0.012;0.006;0.005;0.002;0.001;0.005;0.012;0.002;0.006;0.001;0.003;0.003;0.003;0.003;0.003;0.001;0.001;0.003	T	0.73662	-0.3912	10	0.02654	T	1	.	7.0875	0.25266	0.3255:0.0:0.6745:0.0	.	267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	267	ENSP00000353990:S267N;ENSP00000339302:S267N;ENSP00000392390:S267N;ENSP00000347078:S267N;ENSP00000409759:S267N;ENSP00000425522:S267N;ENSP00000426261:S267N;ENSP00000425451:S267N;ENSP00000422407:S267N;ENSP00000426814:S267N;ENSP00000427238:S267N;ENSP00000423112:S267N;ENSP00000420918:S267N;ENSP00000426172:S267N;ENSP00000423045:S267N;ENSP00000427173:S267N;ENSP00000426098:S267N;ENSP00000425698:S267N;ENSP00000426232:S267N;ENSP00000423317:S267N;ENSP00000350979:S267N;ENSP00000352011:S267N;ENSP00000414388:S267N;ENSP00000423155:S267N;ENSP00000422268:S267N;ENSP00000421518:S267N	ENSP00000339302:S267N	S	+	2	0	CACNA1G	46004967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.681000	0.46926	1.156000	0.42514	0.505000	0.49811	AGC		TCGA-IB-A6UG-01A-32D-A33T-08	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	1	0	0	4	52	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.888573	4	51	0	16	2		0	0	0	0	16	2	-8.875416	1	1	0	0		1	1	2	3	2.005240	0	0.220000	3.280000	0.297297	0.770000	0.270000	1.000000	1.000000	0.755070	0.770000	0	4.800000e-01	1
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	GRCh37	CM010465|CM900211	TP53	M	rs121912651	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	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	37	256	0	70	1	9.999188e-01	50	51	0	70	2	1	1	164	699	0	631	2	1	1.000000	37	253	0	69	2		0	0	0	0	70	2	-2.598876	1	1	121412	1	37	1	0	2	2	1.799994	1	0.220000	3.280000	0.220000	0.990000	0.830000	1.000000	1.000000	0.984300	0.990000	1	9.700000e-01	1
DSC1	1823	broad.mit.edu	37	18	28723623	28723623	+	Silent	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28723623A>T	ENST00000257198.5	-	8	1332	c.1071T>A	c.(1069-1071)acT>acA	p.T357T	DSC1_ENST00000257197.3_Silent_p.T357T|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1			53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)		TACTCACAGAAGTTTCTGTGA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000257198.5	1	1	hg19	CCDS11894.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	1	0	0	18	167	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.999984	17	165	0	46	2		0	0	0	0	46	2	-20.000000	1	1	0	0		1	1	2	3	1.777217	0	0.220000	3.280000	0.228487	0.920000	0.560000	1.000000	1.000000	0.881198	0.920000	1	7.200000e-01	1
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4			51					ATCGTGTCACCGCTTCTCTTG	0.393000																								0							SO:0001819	synonymous_variant			ENST00000261592.5	1	1	hg19	CCDS11907.2																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	1	0	0	19	314	0	77	0	0	0	1	0	77	2		0	0	0	0	0	2	1	0.999991	19	311	0	76	2		0	0	0	0	77	2	-2.188533	0	1	121410	3	35	1	1	2	3	1.777217	0	0.220000	3.280000	0.228487	0.540000	0.330000	1.000000	0.520000	0.580098	0.540000	0	4.200000e-01	7.100000e-01
ZNF24	7572	broad.mit.edu	37	18	32920384	32920384	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:32920384G>A	ENST00000261332.6	-	2	410	c.231C>T	c.(229-231)tgC>tgT	p.C77C	ZNF24_ENST00000399061.3_Silent_p.C77C|ZNF24_ENST00000589881.1_Silent_p.C77C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24			15					GCCACAGACGGCAAAGTTCTC	0.537000													Colon(42;769 913 8916 19469 46270)											0							SO:0001819	synonymous_variant			ENST00000261332.6	0	1	hg19	CCDS11912.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	0	0	0	6	654	0	145	0	3.353563e-02	0	26	0	145	2		0	0	0	0	0	2	1	0.963745	6	646	0	143	2		0	0	0	0	145	2	-2.349021	0	1	0	0		1	1	2	3	1.777217	0	0.220000	3.280000	0.228487	0.090000	0.030000	1.000000	0.080000	0.169772	0.090000	0	5.000000e-02	1.500000e-01
SBNO2	22904	broad.mit.edu	37	19	1119153	1119153	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1119153C>T	ENST00000361757.3	-	14	1621	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A462T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)			14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			ATCTCCATGGCGCCAACGCCC	0.667000																								0							SO:0001583	missense			ENST00000361757.3	0	1	hg19	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368391	0.82463	0.0	1.17E-4	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.993	D	0.89565	0.3809	9	0.87932	D	0	-24.553	15.6769	0.77336	0.0:1.0:0.0:0.0	.	462;462;405	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	T	462;405;486	.	ENSP00000250872:A486T	A	-	1	0	SBNO2	1070153	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	7.514000	0.81750	2.160000	0.67779	0.462000	0.41574	GCC		TCGA-IB-A6UG-01A-32D-A33T-08	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	1	0	1	9	51	0	14	1	9.999649e-01	94	44	0	14	2		0	0	0	0	0	2	1	0.995435	9	51	0	14	2		0	0	0	0	14	2	-16.892900	1	1	120690	1	26	1	0	3	3	1.828633	1	0.220000	3.280000	0.278713	0.990000	0.790000	1.000000	1.000000	0.986764	0.990000	1	9.900000e-01	1
TSHZ3	57616	broad.mit.edu	37	19	31769759	31769759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:31769759C>T	ENST00000240587.4	-	2	1267	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	p.A314T(1)|p.A131T(1)		123	Esophageal squamous(110;0.226)				ATGATTTTGGCGGCGACAGGA	0.537000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000240587.4	0	1	hg19	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449292	0.01080	.	.	ENSG00000121297	ENST00000240587	T	0.11821	2.74	5.46	3.34	0.38264	.	0.108055	0.64402	N	0.000007	T	0.07324	0.0185	N	0.16790	0.44	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14587	-1.0467	10	0.07325	T	0.83	-21.948	11.5359	0.50636	0.0:0.8554:0.0:0.1446	.	314	Q63HK5	TSH3_HUMAN	T	314	ENSP00000240587:A314T	ENSP00000240587:A314T	A	-	1	0	TSHZ3	36461599	1.000000	0.71417	0.875000	0.34327	0.217000	0.24651	5.772000	0.68889	1.294000	0.44707	-0.150000	0.13652	GCC		TCGA-IB-A6UG-01A-32D-A33T-08	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	0	0	0	7	584	0	108	0	5.351609e-03	0	8	0	108	2		0	0	0	0	0	2	1	0.978181	7	564	0	104	2		0	0	0	0	108	2	-1.817239	0	1	121412	2	39	1	2	2	4	2.187476	1	0.220000	3.280000	0.360656	0.130000	0.050000	0.260000	0.120000	0.149211	0.130000	0	9.000000e-02	2.000000e-01
PIAS4	51588	broad.mit.edu	37	19	4033577	4033577	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:4033577G>A	ENST00000262971.2	+	9	1256	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	p.G381R(1)		17					CATCATCGACGGGTGAGCCCG	0.672000																								1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000262971.2	0	0	hg19	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732488	0.69189	.	.	ENSG00000105229	ENST00000262971	T	0.15487	2.42	3.95	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.000000	0.85682	U	0.000000	T	0.44871	0.1314	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54721	-0.8251	10	0.87932	D	0	-26.8132	14.9977	0.71446	0.0:0.0:1.0:0.0	.	381	Q8N2W9	PIAS4_HUMAN	R	381	ENSP00000262971:G381R	ENSP00000262971:G381R	G	+	1	0	PIAS4	3984577	1.000000	0.71417	0.801000	0.32222	0.314000	0.28054	9.755000	0.98912	1.762000	0.52044	0.491000	0.48974	GGG		TCGA-IB-A6UG-01A-32D-A33T-08	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	1	0	1	10	65	0	10	1	8.892844e-01	5	23	0	10	2		0	0	0	0	0	2	1	0.997169	9	64	0	10	2		0	0	0	0	10	2	-17.647890	1	1	0	0		1	0	2	2	1.806944	1	0.220000	3.280000	0.220000	0.990000	0.640000	1.000000	1.000000	0.956851	0.990000	1	8.900000e-01	1
GRIK5	2901	broad.mit.edu	37	19	42546729	42546729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42546729C>T	ENST00000262895.3	-	11	1447	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D|GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5			35		Prostate(69;0.059)			GCCAACCATGCCCGTCCAGGA	0.697000																								0							SO:0001583	missense			ENST00000262895.3	0	1	hg19	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610721	0.96637	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.95949	-3.86;-3.86	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99107	1.0845	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	483	Q16478	GRIK5_HUMAN	D	483	ENSP00000262895:G483D;ENSP00000301218:G483D	ENSP00000262895:G483D	G	-	2	0	GRIK5	47238569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.699000	0.84547	2.941000	0.99782	0.655000	0.94253	GGC		TCGA-IB-A6UG-01A-32D-A33T-08	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1	0	0	0	6	597	0	102	0	2.195097e-03	0	6	0	102	2		0	0	0	0	0	2	1	0.963070	7	586	0	96	2		0	0	0	0	102	2	-2.186031	0	1	0	0		1	2	2	4	2.187476	1	0.220000	3.280000	0.360656	0.110000	0.040000	0.230000	0.120000	0.127997	0.110000	0	7.000000e-02	1.800000e-01
CIC	23152	broad.mit.edu	37	19	42795450	42795450	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42795450C>G	ENST00000575354.2	+	10	2570	c.2530C>G	c.(2530-2532)Cca>Gca	p.P844A	CIC_ENST00000160740.3_Missense_Mutation_p.P844A|CIC_ENST00000572681.2_Missense_Mutation_p.P1753A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor			82		Prostate(69;0.00682)			TGCCCCAGCACCAGCCCCTGG	0.672000			Mis, F, S		oligodendroglioma										Rec	yes		19	19q13.2	23152	capicua homolog		O	0							SO:0001583	missense			ENST00000575354.2	1	1	hg19	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943409	0.34283	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	1.44	0.22558	.	.	.	.	.	T	0.23210	0.0561	N	0.08118	0	0.26798	N	0.96927	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	8	0.87932	D	0	-1.575	9.4699	0.38835	0.1253:0.4976:0.3771:0.0	.	844	Q96RK0	CIC_HUMAN	A	844	.	ENSP00000160740:P844A	P	+	1	0	CIC	47487290	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.581000	0.23819	0.537000	0.28751	0.561000	0.74099	CCA		TCGA-IB-A6UG-01A-32D-A33T-08	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0	0	0	8	243	0	47	1	6.852046e-01	3	68	0	47	2		0	0	0	0	0	2	1	0.989172	8	240	0	45	2		0	0	0	0	47	2	-10.017220	1	1	0	0		1	2	2	4	2.187476	1	0.220000	3.280000	0.360656	0.370000	0.170000	0.650000	0.360000	0.391759	0.370000	0	2.500000e-01	5.100000e-01
ZNF473	25888	broad.mit.edu	37	19	50548807	50548807	+	Silent	SNP	C	C	T	rs148474136	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:50548807C>T	ENST00000595661.1	+	6	1602	c.1107C>T	c.(1105-1107)caC>caT	p.H369H	ZNF473_ENST00000391821.2_Silent_p.H369H|ZNF473_ENST00000270617.3_Silent_p.H369H|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.H357H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473			37		all_neural(266;0.0459)|Ovarian(192;0.0728)			AGAAAACTCACGCTGCAAAAA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000595661.1	1	1	hg19	CCDS33077.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	0	0	0	16	429	0	66	0	3.611762e-02	0	8	0	66	2		0	0	0	0	0	2	1	0.999934	17	427	0	66	2		0	0	0	0	66	2	-15.080770	1	1	121412	11	41	1	3	3	6	2.271201	1	0.220000	3.280000	0.399631	0.470000	0.260000	1.000000	0.420000	0.563535	0.470000	0	3.500000e-01	1
KLK15	55554	broad.mit.edu	37	19	51330167	51330167	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51330167C>G	ENST00000598239.1	-	3	478	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.E149Q|KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15			24		all_neural(266;0.057)			GTCCCAGGCTCGTTGTGGGAC	0.687000													Pancreas(140;10 2513 7143 9246)											0							SO:0001583	missense			ENST00000598239.1	1	1	hg19	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	9.453	1.091027	0.20471	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88741	-2.42	4.5	-5.03	0.02973	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.995620	0.02210	N	0.063038	T	0.81317	0.4797	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25719	0.132;0.003;0.002	B;B;B	0.34652	0.187;0.013;0.004	T	0.69060	-0.5245	10	0.15952	T	0.53	.	12.5901	0.56437	0.0:0.1856:0.0:0.8144	.	150;149;150	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	Q	150	ENSP00000301421:E150Q	ENSP00000301421:E150Q	E	-	1	0	KLK15	56021979	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.363000	0.07593	-0.801000	0.04427	0.555000	0.69702	GAG		TCGA-IB-A6UG-01A-32D-A33T-08	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	1	0	1	67	257	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	65	251	0	51	2		0	0	0	0	51	2	-20.000000	1	1	0	0		1	3	3	6	2.271201	1	0.220000	3.280000	0.399631	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SIGLEC5	8778	broad.mit.edu	37	19	52132769	52132769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52132769G>A	ENST00000534261.2	-	4	941	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T181M|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T181M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5			27		all_neural(266;0.0726)			GGCATTCCCCGTCCAGGAGAA	0.657000																								0							SO:0001583	missense			ENST00000534261.2	0	1	hg19	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	g	2.485	-0.318873	0.05386	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.22743	1.94;1.94	3.83	-7.65	0.01281	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.012550	0.01183	N	0.007122	T	0.11067	0.0270	N	0.16266	0.395	0.09310	N	1	P	0.40660	0.726	B	0.39068	0.289	T	0.14364	-1.0475	10	0.15066	T	0.55	.	7.7193	0.28723	0.6524:0.0:0.1321:0.2155	.	181	O15389	SIGL5_HUMAN	M	181	ENSP00000222107:T181M;ENSP00000415200:T181M	ENSP00000222107:T181M	T	-	2	0	SIGLEC5	56824581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.692000	0.00198	-2.466000	0.00533	-0.948000	0.02665	ACG		TCGA-IB-A6UG-01A-32D-A33T-08	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	0	0	0	25	65	0	19	0	0	0	1	0	19	2		0	0	0	0	0	2	1	0.999993	14	44	0	28	2		0	0	0	0	19	2	-19.863340	1	1	119122	1	29	1						0.220000	3.280000									0	0
ZNF480	147657	broad.mit.edu	37	19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52817449C>T	ENST00000595962.1	+	3	182	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V|ZNF480_ENST00000490272.1_Intron|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480			12					TTCTCTCAGGCGGAGTGGAAA	0.473000																								0							SO:0001583	missense			ENST00000595962.1	1	1	hg19	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	5.169	0.216831	0.09810	2.27E-4	0.0	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.01725	4.67;4.67	2.04	0.945	0.19543	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.46157	1.445	0.22933	N	0.998546	P;B	0.40476	0.718;0.161	B;B	0.30782	0.038;0.12	T	0.47484	-0.9114	9	0.66056	D	0.02	.	6.0962	0.20021	0.7277:0.2723:0.0:0.0	.	39;39	F8WEZ9;Q8WV37	.;ZN480_HUMAN	V	61;39;39	ENSP00000417424:A39V;ENSP00000334164:A39V	ENSP00000334164:A39V	A	+	2	0	ZNF480	57509261	0.981000	0.34729	0.315000	0.25238	0.071000	0.16799	0.684000	0.25364	0.048000	0.15891	-0.602000	0.04101	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	1	0	1	77	642	0	128	0	8.982995e-01	0	35	0	128	2		0	0	0	0	0	2	1	1.000000	76	638	0	125	2		0	0	0	0	128	2	-3.318794	1	1	0	0		1	3	3	6	2.270755	1	0.220000	3.280000	0.399631	0.990000	0.990000	1.000000	1.000000	0.999413	0.990000	1	9.900000e-01	1
ZNF549	256051	broad.mit.edu	37	19	58049499	58049499	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58049499G>A	ENST00000376233.3	+	4	1308	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R363H	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549			21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			TCCTATGACCGCATTCGACAC	0.433000																								0							SO:0001583	missense			ENST00000376233.3	0	1	hg19	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456252	0.43634	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15139	2.45;2.45	2.64	-5.28	0.02755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16471	0.0396	M	0.73598	2.24	0.09310	N	1	B;B	0.18863	0.0;0.031	B;B	0.12156	0.0;0.007	T	0.39623	-0.9605	9	0.87932	D	0	.	4.6998	0.12822	0.3606:0.0:0.142:0.4974	.	376;363	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	H	363;376	ENSP00000240719:R363H;ENSP00000365407:R376H	ENSP00000240719:R363H	R	+	2	0	ZNF549	62741311	0.001000	0.12720	0.000000	0.03702	0.575000	0.36095	0.804000	0.27098	-1.086000	0.03084	-0.350000	0.07774	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	0	0	0	5	319	0	58	0	3.751610e-03	0	5	0	58	2		0	0	0	0	0	2	1	0.935430	5	314	0	58	2		0	0	0	0	58	2	-2.794334	1	1	121412	3	37	1	3	3	6	2.271543	1	0.220000	3.280000	0.399631	0.230000	0.070000	1.000000	0.190000	0.380765	0.230000	0	1.300000e-01	1
ZNF418	147686	broad.mit.edu	37	19	58437576	58437576	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58437576C>T	ENST00000396147.1	-	4	2264	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q|ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418			31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)			AGAAGAGCTTCGATGAAATGA	0.413000																								0							SO:0001583	missense			ENST00000396147.1	1	1	hg19	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	3.656	-0.070523	0.07228	0.0	1.16E-4	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07567	3.18;3.18	2.41	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.02334	-0.595	0.09310	N	1	B	0.24132	0.098	B	0.10450	0.005	T	0.44283	-0.9338	9	0.02654	T	1	.	6.7371	0.23415	0.0:0.4089:0.0:0.5911	.	658	Q8TF45	ZN418_HUMAN	Q	658;679;624	ENSP00000379451:R658Q;ENSP00000407039:R679Q	ENSP00000379451:R658Q	R	-	2	0	ZNF418	63129388	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-3.966000	0.00324	-0.253000	0.09514	0.313000	0.20887	CGA		TCGA-IB-A6UG-01A-32D-A33T-08	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	0	0	0	13	505	0	79	0	2.953536e-02	0	10	0	79	2		0	0	0	0	0	2	1	0.999499	13	499	0	79	2		0	0	0	0	79	2	-2.649041	1	1	121408	1	40	1	3	3	6	2.271543	1	0.220000	3.280000	0.399631	0.330000	0.160000	1.000000	0.290000	0.460330	0.330000	0	2.300000e-01	1
CHRNB2	1141	broad.mit.edu	37	1	154543680	154543680	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:154543680C>T	ENST00000368476.3	+	5	645	c.381C>T	c.(379-381)taC>taT	p.Y127Y		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)			28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)	Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACGGCATGTACGAGGTGTCCT	0.552000																								0							SO:0001819	synonymous_variant			ENST00000368476.3	1	1	hg19	CCDS1070.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	1	0	1	274	486	0	110	0	0	0	1	0	110	2		0	0	0	0	0	2	1	1.000000	273	479	0	108	2		0	0	0	0	110	2	-20.000000	1	1	0	0		1	0	5	5	2.256617	1	0.220000	3.280000	0.400138	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	p.A231T(1)		16	all_hematologic(923;0.208)				GCAGTGTTTGCCGGCCCACAA	0.358000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367811.3	0	1	hg19	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		TCGA-IB-A6UG-01A-32D-A33T-08	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	0	0	0	7	1121	0	199	0	5.615228e-02	0	52	0	199	2		0	0	0	0	0	2	1	0.979703	7	1107	0	199	2		0	0	0	0	199	2	-1.667255	0	1	121410	2	33	1	0	5	5	2.256617	1	0.220000	3.280000	0.400138	0.080000	0.010000	1.000000	0.090000	0.148931	0.080000	0	4.000000e-02	1.300000e-01
TNR	7143	broad.mit.edu	37	1	175292513	175292513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:175292513G>A	ENST00000367674.2	-	23	4765	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	TNR_ENST00000263525.2_Missense_Mutation_p.R1353W|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R			177	Renal(580;0.146)				AAGGACTGCCGTTTTCTCCCT	0.478000																								0							SO:0001583	missense			ENST00000367674.2	1	1	hg19	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.823924	0.50739	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.29142	1.58;1.58	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.47716	1.5	0.53005	D	0.99996	D	0.89917	1.0	D	0.63283	0.913	T	0.40213	-0.9575	10	0.87932	D	0	.	13.652	0.62316	0.0:0.0:0.8451:0.1549	.	1353	Q92752	TENR_HUMAN	W	1353;1353;1263	ENSP00000356646:R1353W;ENSP00000263525:R1353W	ENSP00000263525:R1353W	R	-	1	2	TNR	173559136	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.266000	0.51569	2.513000	0.84729	0.561000	0.74099	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	0	50	559	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	49	547	0	94	2		0	0	0	0	95	2	-12.802390	1	1	0	0		1	0	5	5	2.256617	1	0.220000	3.280000	0.400138	0.980000	0.730000	1.000000	1.000000	0.942902	0.980000	1	8.500000e-01	1
TMEM52	339456	broad.mit.edu	37	1	1849752	1849752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:1849752G>A	ENST00000310991.3	-	4	296	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	TMEM52_ENST00000378602.3_Missense_Mutation_p.P82S	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52			3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)			ACGTCGCAGGGCTGCCGTGCT	0.632000																								0							SO:0001583	missense			ENST00000310991.3	1	1	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.117061	0.37339	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.56776	0.44;0.44	3.92	2.99	0.34606	.	0.000000	0.52532	D	0.000072	T	0.57710	0.2072	M	0.68317	2.08	0.29515	N	0.853898	B;P	0.50819	0.06;0.939	B;P	0.50934	0.046;0.654	T	0.59542	-0.7435	10	0.72032	D	0.01	-26.7541	9.9162	0.41436	0.1049:0.0:0.8951:0.0	.	97;82	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	S	82;97	ENSP00000367865:P82S;ENSP00000311122:P97S	ENSP00000311122:P97S	P	-	1	0	TMEM52	1839612	0.947000	0.32204	0.526000	0.27913	0.180000	0.23129	1.620000	0.36976	0.763000	0.33175	0.511000	0.50034	CCC		TCGA-IB-A6UG-01A-32D-A33T-08	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	1	0	0	25	253	0	69	0	9.997177e-01	0	132	0	69	2		0	0	0	0	0	2	1	1.000000	25	247	0	67	2		0	0	0	0	69	2	-2.540643	1	1	121308	1	36	1	2	2	4	1.841880	1	0.220000	3.280000	0.260664	0.910000	0.590000	1.000000	1.000000	0.882618	0.910000	1	7.300000e-01	1
LAX1	54900	broad.mit.edu	37	1	203739994	203739994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:203739994C>T	ENST00000442561.2	+	2	518	c.128C>T	c.(127-129)gCg>gTg	p.A43V	LAX1_ENST00000367217.5_Missense_Mutation_p.A27V|LAX1_ENST00000367215.1_3'UTR	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	p.A43V(1)		24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)		TCCGGGTTTGCGGGACTCCTC	0.483000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000442561.2	0	1	hg19	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	5.080	0.200425	0.09652	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.38	1.43	0.22495	.	0.327636	0.26007	N	0.026914	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B;B	0.33379	0.41;0.201	B;B	0.28139	0.086;0.055	T	0.18147	-1.0346	9	0.17832	T	0.49	-3.1747	7.1389	0.25543	0.0:0.6291:0.0:0.3709	.	27;43	B7Z744;Q8IWV1	.;LAX1_HUMAN	V	43;27	.	ENSP00000356186:A27V	A	+	2	0	LAX1	202006617	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.145000	0.16157	0.013000	0.14918	-0.254000	0.11334	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	0	0	0	6	607	0	81	0	8.697730e-04	0	4	0	81	2		0	0	0	0	0	2	1	0.964575	6	604	0	81	2		0	0	0	0	81	2	-1.689357	0	1	121412	1	39	1	0	5	5	2.254602	1	0.220000	3.280000	0.403168	0.120000	0.030000	1.000000	0.100000	0.183170	0.120000	0	7.000000e-02	2.000000e-01
NBPF3	84224	broad.mit.edu	37	1	21801427	21801427	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21801427A>G	ENST00000318249.5	+	8	1325	c.975A>G	c.(973-975)aaA>aaG	p.K325K	NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000318220.6_Silent_p.K269K|NBPF3_ENST00000454000.2_Silent_p.K255K	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3			20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)			AGGAAGAAAAAGGGCCAGTGT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000318249.5	0	1	hg19	CCDS216.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	5	604	0	137	0	2.985218e-03	0	8	0	137	2		0	0	0	0	0	2	1	0.936410	5	599	0	137	2		0	0	0	0	137	2	-2.239016	0	1	0	0		1	1	2	3	1.821982	0	0.220000	3.280000	0.237611	0.090000	0.020000	1.000000	0.070000	0.234101	0.090000	0	5.000000e-02	2.300000e-01
SUSD4	55061	broad.mit.edu	37	1	223465929	223465929	+	Silent	SNP	G	G	A	rs148470082		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:223465929G>A	ENST00000343846.3	-	2	846	c.213C>T	c.(211-213)agC>agT	p.S71S	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Silent_p.S71S|SUSD4_ENST00000494793.2_Silent_p.S71S|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S71S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4			17					AAACCCCTCCGCTGGGGGTCC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000343846.3	1	1	hg19	CCDS41471.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	1	0	0	43	466	0	88	1	6.996838e-01	2	26	0	88	2		0	0	0	0	0	2	1	1.000000	41	463	0	86	2		0	0	0	0	88	2	-11.933480	1	1	121412	34	46	1	0	5	5	2.273711	1	0.220000	3.280000	0.403168	0.990000	0.740000	1.000000	1.000000	0.953533	0.990000	1	8.700000e-01	1
EPHA8	2046	broad.mit.edu	37	1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			GAGGAGCGGCGGGATGCCTGT	0.677000																								0							SO:0001583	missense			ENST00000166244.3	0	1	hg19	CCDS225.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.89	1.773458	0.31411	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97256	1.61;-4.31;-4.31	4.09	0.842	0.18927	.	0.145914	0.44097	N	0.000490	D	0.92120	0.7502	L	0.41236	1.265	0.37767	D	0.926539	B;B	0.22851	0.003;0.076	B;B	0.15870	0.004;0.014	D	0.85467	0.1170	10	0.45353	T	0.12	.	3.7537	0.08576	0.3071:0.0:0.5103:0.1826	.	270;270	P29322;P29322-2	EPHA8_HUMAN;.	Q	270	ENSP00000166244:R270Q;ENSP00000363775:R270Q;ENSP00000440274:R270Q	ENSP00000166244:R270Q	R	+	2	0	EPHA8	22775946	0.735000	0.28153	0.998000	0.56505	0.990000	0.78478	1.043000	0.30316	0.358000	0.24211	0.442000	0.29010	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	0	0	0	8	141	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	0.987816	8	134	0	22	2		0	0	0	0	24	2	-2.896200	1	1	121064	1	26	1	1	2	3	1.821982	0	0.220000	3.280000	0.237611	0.560000	0.250000	1.000000	0.480000	0.613626	0.560000	0	3.800000e-01	1
GJA4	2701	broad.mit.edu	37	1	35260163	35260163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:35260163C>T	ENST00000342280.4	+	2	437	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa			14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)			GCGGGCACTGCCGGCCAAGGA	0.667000																								0							SO:0001583	missense			ENST00000342280.4	0	1	hg19	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	2.482	-0.319516	0.05386	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97232	-4.27;-4.3	5.11	4.2	0.49525	.	0.976137	0.08425	N	0.947757	D	0.93128	0.7812	L	0.29908	0.895	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.83316	-0.0020	10	0.13470	T	0.59	.	9.298	0.37827	0.0:0.7788:0.1446:0.0766	.	117;117	Q5JW71;P35212	.;CXA4_HUMAN	S	117	ENSP00000343676:P117S;ENSP00000409186:P117S	ENSP00000343676:P117S	P	+	1	0	GJA4	35032750	0.958000	0.32768	0.903000	0.35520	0.138000	0.21146	1.218000	0.32467	1.146000	0.42352	0.563000	0.77884	CCG		TCGA-IB-A6UG-01A-32D-A33T-08	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	0	0	0	4	214	0	45	0	1.025126e-01	0	23	0	45	2		0	0	0	0	0	2	1	0.891170	4	214	0	44	2		0	0	0	0	45	2	-3.884781	1	1	0	0		1	1	2	3	1.821982	0	0.220000	3.280000	0.237611	0.210000	0.060000	1.000000	0.160000	0.333027	0.210000	0	1.200000e-01	5.500000e-01
PTPRF	5792	broad.mit.edu	37	1	44069169	44069169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44069169G>A	ENST00000359947.4	+	15	2763	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F			72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			GATGGTGCCCGCAGCAAGCCC	0.632000																								0							SO:0001583	missense			ENST00000359947.4	0	1	hg19	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.895738|3.895738	0.72639|0.72639	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.54279	.|2.28;0.58;2.28;0.58;0.58;0.59	4.79|4.79	4.79|4.79	0.61399|0.61399	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.31660	.|N	.|0.007279	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.89917	.|1.0;1.0;0.88;1.0;1.0	.|D;D;B;D;D	.|0.97110	.|0.999;0.986;0.288;0.995;1.0	T|T	0.73007|0.73007	-0.4118|-0.4118	5|10	.|0.30854	.|T	.|0.27	.|.	18.2203|18.2203	0.89899|0.89899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|455;156;567;799;808	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	456|808;799;808;799;156;62	.|ENSP00000353030:R808H;ENSP00000398822:R799H;ENSP00000361491:R808H;ENSP00000361490:R799H;ENSP00000387885:R156H;ENSP00000361484:R62H	.|ENSP00000353030:R808H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43841756|43841756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.456000|7.456000	0.80751|0.80751	2.387000|2.387000	0.81309|0.81309	0.655000|0.655000	0.94253|0.94253	GCA|CGC		TCGA-IB-A6UG-01A-32D-A33T-08	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1	0	0	0	7	451	0	94	0	5.910966e-01	0	120	0	94	2		0	0	0	0	0	2	1	0.979681	7	444	0	93	2		0	0	0	0	94	2	-2.533984	1	1	121412	1	36	1	1	2	3	1.821982	0	0.220000	3.280000	0.237611	0.160000	0.060000	1.000000	0.140000	0.292874	0.160000	0	1.000000e-01	3.600000e-01
DEPDC1	55635	broad.mit.edu	37	1	68947194	68947194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:68947194G>A	ENST00000456315.2	-	9	1978	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1			13					GAAATCATACGCATTAAAAGT	0.398000																								0							SO:0001583	missense			ENST00000456315.2	1	1	hg19	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635313	0.47049	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.86627	-2.15;-2.15	5.72	4.78	0.61160	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.83483	2.645	0.44539	D	0.997495	P;D	0.89917	0.793;1.0	B;D	0.87578	0.181;0.998	D	0.93210	0.6599	10	0.72032	D	0.01	-2.5002	15.1757	0.72910	0.0:0.0:0.7481:0.2519	.	622;338	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	622;338	ENSP00000412292:R622C;ENSP00000360005:R338C	ENSP00000360005:R338C	R	-	1	0	DEPDC1	68719782	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.266000	0.51569	2.691000	0.91804	0.655000	0.94253	CGT		TCGA-IB-A6UG-01A-32D-A33T-08	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	1	0	0	10	124	0	30	1	1.991898e-02	3	0	0	30	2		0	0	0	0	0	2	1	0.997013	10	122	0	30	2		0	0	0	0	30	2	-5.355585	1	1	121310	3	35	1	1	2	3	1.821982	0	0.220000	3.280000	0.237611	0.760000	0.380000	1.000000	1.000000	0.764171	0.760000	0	5.400000e-01	1
RIN2	54453	broad.mit.edu	37	20	19970910	19970910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:19970910C>A	ENST00000255006.6	+	9	2319	c.2170C>A	c.(2170-2172)Ctg>Atg	p.L724M	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L242M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2			27					CATGCTGCTGCTGCGGGTCTG	0.557000																								0							SO:0001583	missense			ENST00000255006.6	1	1	hg19	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845521	0.71603	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.36699	1.24;1.24	5.83	2.72	0.32119	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.88704	2.975	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64554	-0.6380	9	.	.	.	-20.4278	10.7252	0.46064	0.0:0.7838:0.0:0.2162	.	242;675	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	M	724;242	ENSP00000255006:L724M;ENSP00000391239:L242M	.	L	+	1	2	RIN2	19918910	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.382000	0.34374	0.313000	0.23062	-0.194000	0.12790	CTG		TCGA-IB-A6UG-01A-32D-A33T-08	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1	1	0	1	15	124	0	26	1	9.772297e-01	8	47	0	26	2		0	0	0	0	0	2	1	0.999891	15	122	0	26	2		0	0	0	0	26	2	-19.998580	1	1	0	0		1	1	2	3	1.957393	0	0.220000	3.280000	0.294501	0.990000	0.650000	1.000000	1.000000	0.949536	0.990000	1	8.600000e-01	1
INSM1	3642	broad.mit.edu	37	20	20349690	20349690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:20349690C>T	ENST00000310227.1	+	1	926	c.779C>T	c.(778-780)gCg>gTg	p.A260V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1			6					gcggggggcgcggcgcggccg	0.716000																								0							SO:0001583	missense			ENST00000310227.1	0	1	hg19	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184394	0.09495	.	.	ENSG00000173404	ENST00000310227	T	0.00711	5.8	3.53	2.46	0.29980	.	0.183785	0.33553	U	0.004798	T	0.00496	0.0016	N	0.12182	0.205	0.24619	N	0.993683	B	0.33103	0.397	B	0.20184	0.028	T	0.53906	-0.8372	10	0.41790	T	0.15	.	6.9677	0.24632	0.0:0.5981:0.2959:0.1059	.	260	Q01101	INSM1_HUMAN	V	260	ENSP00000312631:A260V	ENSP00000312631:A260V	A	+	2	0	INSM1	20297690	0.003000	0.15002	0.122000	0.21767	0.349000	0.29174	1.908000	0.39907	1.699000	0.51192	0.306000	0.20318	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	1	0	0	13	70	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	0.999655	13	69	0	10	2		0	0	0	0	11	2	-19.999610	1	1	114260	1	20	1	1	2	3	1.957393	0	0.220000	3.280000	0.294501	0.990000	0.920000	1.000000	1.000000	0.994963	0.990000	1	9.900000e-01	1
DSCAM	1826	broad.mit.edu	37	21	41648061	41648061	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:41648061G>A	ENST00000400454.1	-	11	2796	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule			142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)			TGACGTCTGCGCCCACATCGT	0.483000													Melanoma(134;970 1778 1785 21664 32388)											0							SO:0001819	synonymous_variant			ENST00000400454.1	1	1	hg19	CCDS42929.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	1	0	1	61	283	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	60	281	0	79	2		0	0	0	0	79	2	-3.040396	1	1	121034	1	35	1	0	2	2	1.779519	1	0.220000	3.280000	0.220000	0.990000	0.990000	1.000000	1.000000	0.999996	0.990000	1	9.900000e-01	1
COL6A1	1291	broad.mit.edu	37	21	47423408	47423408	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:47423408C>T	ENST00000361866.3	+	35	2682	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1			33	all_hematologic(128;0.24)				AGCGCCTGGCCGAGCGCTTCC	0.706000																								0							SO:0001819	synonymous_variant			ENST00000361866.3	1	1	hg19	CCDS13727.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	1	0	1	29	150	0	49	1	1	7	246	0	49	2		0	0	0	0	0	2	1	1.000000	29	146	0	49	2		0	0	0	0	49	2	-20.000000	1	1	120706	14	42	1	0	2	2	1.779519	1	0.220000	3.280000	0.220000	0.990000	0.990000	1.000000	1.000000	0.998783	0.990000	1	9.900000e-01	1
POTEH	23784	broad.mit.edu	37	22	16279226	16279226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:16279226C>A	ENST00000343518.6	-	4	1048	c.997G>T	c.(997-999)Gca>Tca	p.A333S	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H			37					TTTAAATTTGCTTTTTTCTTG	0.323000																								0							SO:0001583	missense			ENST00000343518.6	0	1	hg19	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059525	0.36373	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.61392	0.11	1.38	0.308	0.15815	Ankyrin repeat-containing domain (4);	0.217456	0.22410	U	0.060437	T	0.70116	0.3187	M	0.82823	2.61	0.09310	N	1	D;D	0.76494	0.976;0.999	D;D	0.87578	0.91;0.998	T	0.58306	-0.7659	10	0.72032	D	0.01	.	3.5736	0.07926	0.0:0.7344:0.0:0.2656	.	333;296	Q6S545;A6NKF6	POTEH_HUMAN;.	S	296;333	ENSP00000340610:A333S	ENSP00000340610:A333S	A	-	1	0	POTEH	14659226	0.302000	0.24454	0.001000	0.08648	0.061000	0.15899	1.944000	0.40263	0.148000	0.19059	0.175000	0.17021	GCA		TCGA-IB-A6UG-01A-32D-A33T-08	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	0	0	0	34	2461	0	408		0	0	0	0	408	2		0	0	0	0	0	2	1	0.999968	19	1079	0	424	2		0	0	0	0	408	2	-3.221884	1	1	0	0		1						0.220000	3.280000									0	0
RTDR1	0	broad.mit.edu	37	22	23406095	23406095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23406095G>A	ENST00000216036.4	-	5	834	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN				18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)				ATTAAGGAGCGCACGGGCGGC	0.632000																								0							SO:0001583	missense			ENST00000216036.4	0	1	hg19	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	5.511	0.279316	0.10458	.	.	ENSG00000100218	ENST00000216036	T	0.54279	0.58	4.71	1.43	0.22495	Armadillo-like helical (1);Armadillo-type fold (1);	1.325690	0.04962	N	0.462276	T	0.46521	0.1397	L	0.56769	1.78	0.09310	N	0.999997	B	0.29115	0.233	B	0.20384	0.029	T	0.22765	-1.0207	10	0.28530	T	0.3	-5.5588	6.8903	0.24226	0.3029:0.0:0.6971:0.0	.	213	Q9UHP6	RTDR1_HUMAN	V	213	ENSP00000216036:A213V	ENSP00000216036:A213V	A	-	2	0	RTDR1	21736095	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.081000	0.30791	0.169000	0.19679	0.555000	0.69702	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1	0	0	0	4	247	0	49	0	1.374886e-03	0	3	0	49	2		0	0	0	0	0	2	1	0.887291	4	243	0	48	2		0	0	0	0	49	2	-5.063110	1	1	121412	1	32	1	1	2	3	2.005848	0	0.220000	3.280000	0.297297	0.170000	0.050000	0.380000	0.150000	0.197542	0.170000	0	1.000000e-01	2.800000e-01
GNAZ	2781	broad.mit.edu	37	22	23438122	23438122	+	Silent	SNP	G	G	A	rs143475223		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23438122G>A	ENST00000248996.4	+	2	906	c.240G>A	c.(238-240)tcG>tcA	p.S80S	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide			19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)				CCATCGACTCGCTGACCCGCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000248996.4	1	1	hg19	CCDS13804.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	1	0	0	57	1147	0	265	0	0	0	1	0	265	2		0	0	0	0	0	2	1	1.000000	57	1142	0	262	2		0	0	0	0	265	2	-5.607851	1	1	121412	7	46	1	1	2	3	2.005848	0	0.220000	3.280000	0.297297	0.470000	0.360000	0.600000	0.480000	0.484349	0.470000	0	4.100000e-01	5.400000e-01
MYH9	4627	broad.mit.edu	37	22	36712651	36712651	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:36712651G>A	ENST00000216181.5	-	12	1521	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle			86					TTGATGCGCAGCACCAGCCAG	0.607000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated						Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0							SO:0001819	synonymous_variant	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	ENST00000216181.5	0	1	hg19	CCDS13927.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	0	0	0	5	481	0	85	0	9.167354e-01	0	432	0	85	2		0	0	0	0	0	2	1	0.936133	5	476	0	83	2		0	0	0	0	85	2	-2.528261	1	1	0	0		1	1	2	3	2.005848	0	0.220000	3.280000	0.297297	0.110000	0.030000	0.230000	0.100000	0.123459	0.110000	0	6.000000e-02	1.700000e-01
MCHR1	2847	broad.mit.edu	37	22	41077637	41077637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:41077637G>A	ENST00000249016.4	+	2	1670	c.974G>A	c.(973-975)cGc>cAc	p.R325H	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R199H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1			20					AGGGTGACCCGCACAGCCATC	0.617000																								0							SO:0001583	missense			ENST00000249016.4	0	1	hg19	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747866	0.89663	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.40225	1.04;1.04	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.85630	2.765	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.73344	-0.4012	10	0.62326	D	0.03	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	325	Q99705	MCHR1_HUMAN	H	325;199	ENSP00000249016:R325H;ENSP00000370841:R199H	ENSP00000249016:R325H	R	+	2	0	MCHR1	39407583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.679000	0.74513	2.607000	0.88179	0.655000	0.94253	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	0	0	0	6	396	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	0.964433	6	393	0	71	2		0	0	0	0	73	2	-2.924391	1	1	121412	4	36	1						0.220000	3.280000									0	0
MERTK	10461	broad.mit.edu	37	2	112785977	112785977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:112785977A>G	ENST00000295408.4	+	19	2793	c.2536A>G	c.(2536-2538)Acc>Gcc	p.T846A	MERTK_ENST00000421804.2_Missense_Mutation_p.T846A|MERTK_ENST00000409780.1_Missense_Mutation_p.T670A			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase			46					AGACCGCCCCACCTTTTCAGT	0.443000																								0							SO:0001583	missense			ENST00000295408.4	1	1	hg19	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634279	0.29068	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.75	1.76	0.24704	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.494897	0.14911	U	0.291237	T	0.60932	0.2307	M	0.64676	1.99	0.18873	N	0.999985	B	0.20988	0.05	B	0.25614	0.062	T	0.55617	-0.8113	10	0.62326	D	0.03	-7.7489	6.9481	0.24530	0.4709:0.126:0.0:0.4031	.	846	Q12866	MERTK_HUMAN	A	846;846;505;670;170	ENSP00000295408:T846A;ENSP00000389152:T846A;ENSP00000387277:T670A;ENSP00000412660:T170A	ENSP00000295408:T846A	T	+	1	0	MERTK	112502448	0.001000	0.12720	0.045000	0.18777	0.584000	0.36387	0.722000	0.25925	0.040000	0.15660	0.533000	0.62120	ACC		TCGA-IB-A6UG-01A-32D-A33T-08	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2	1	0	0	33	354	0	89	0	4.149036e-02	0	4	0	89	2		0	0	0	0	0	2	1	1.000000	32	350	0	88	2		0	0	0	0	89	2	-20.000000	1	1	0	0		1	1	2	3	1.949331	0	0.220000	3.280000	0.297297	0.860000	0.600000	1.000000	1.000000	0.859452	0.860000	1	7.200000e-01	1
SCN3A	6328	broad.mit.edu	37	2	166018859	166018859	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166018859C>T	ENST00000360093.3	-	9	1481	c.990G>A	c.(988-990)ggG>ggA	p.G330G	SCN3A_ENST00000283254.7_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit			120				Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCTTTTTGCCCATCCAAAA	0.294000																								0							SO:0001819	synonymous_variant			ENST00000360093.3	0	1	hg19																																																																																					TCGA-IB-A6UG-01A-32D-A33T-08	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	0	0	6	811	0	144		0	0	0	0	144	2		0	0	0	0	0	2	1	0.963405	6	799	0	142	2		0	0	0	0	144	2	-1.698013	0	1	0	0		1	1	2	3	1.949331	0	0.220000	3.280000	0.297297	0.070000	0.020000	0.160000	0.070000	0.086016	0.070000	0	4.000000e-02	1.200000e-01
SCN2A	6326	broad.mit.edu	37	2	166245632	166245632	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166245632C>T	ENST00000375437.2	+	27	5606	c.5316C>T	c.(5314-5316)atC>atT	p.I1772I	SCN2A_ENST00000357398.3_Silent_p.I1772I|SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit			118				Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGTACATCGCGGTCATCC	0.443000																								0							SO:0001819	synonymous_variant			ENST00000375437.2	0	1	hg19	CCDS33314.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	1	0	1	114	442	0	126		0	0	0	0	126	2		0	0	0	0	0	2	1	1.000000	104	397	0	151	2		0	0	0	0	126	2	-20.000000	1	1	0	0		1	1	2	3	1.949331	0	0.220000	3.280000	0.297297	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
HECW2	57520	broad.mit.edu	37	2	197135945	197135945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197135945G>A	ENST00000260983.3	-	17	3489	c.3307C>T	c.(3307-3309)Cct>Tct	p.P1103S	HECW2_ENST00000409111.1_Missense_Mutation_p.P747S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2			113					GTAAGATCAGGTTGACGCTCC	0.328000																								0							SO:0001583	missense			ENST00000260983.3	1	1	hg19	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186065	0.78789	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84660	-1.88;-1.88	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	P	0.49140	0.601	T	0.82764	-0.0296	10	0.22706	T	0.39	.	19.8791	0.96888	0.0:0.0:1.0:0.0	.	1103	Q9P2P5	HECW2_HUMAN	S	747;1103	ENSP00000386775:P747S;ENSP00000260983:P1103S	ENSP00000260983:P1103S	P	-	1	0	HECW2	196844190	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.821000	0.99360	2.706000	0.92434	0.467000	0.42956	CCT		TCGA-IB-A6UG-01A-32D-A33T-08	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	1	0	0	20	186	0	27	0	0	0	1	0	27	2		0	0	0	0	0	2	1	0.999996	20	186	0	27	2		0	0	0	0	27	2	-9.159397	1	1	0	0		1	1	2	3	1.966308	0	0.220000	3.280000	0.297297	0.980000	0.630000	1.000000	1.000000	0.920897	0.980000	1	7.900000e-01	1
CCDC108	255101	broad.mit.edu	37	2	219870881	219870881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219870881G>T	ENST00000341552.5	-	31	4867	c.4784C>A	c.(4783-4785)cCa>cAa	p.P1595Q	CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108			80		Renal(207;0.0915)			CTCCTCCTTTGGGGTCTGCAG	0.622000																								0							SO:0001583	missense			ENST00000341552.5	1	1	hg19	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431430	0.12045	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04917	3.53;3.53;3.53	5.56	3.73	0.42828	.	1.183400	0.06364	N	0.712220	T	0.08223	0.0205	L	0.48642	1.525	0.09310	N	1	B	0.19935	0.04	B	0.17979	0.02	T	0.42310	-0.9459	10	0.30854	T	0.27	0.573	8.21	0.31478	0.0809:0.3029:0.6162:0.0	.	1595	Q6ZU64	CC108_HUMAN	Q	1595	ENSP00000340776:P1595Q;ENSP00000413377:P1595Q;ENSP00000409117:P1595Q	ENSP00000340776:P1595Q	P	-	2	0	CCDC108	219579125	0.055000	0.20627	0.001000	0.08648	0.215000	0.24574	2.473000	0.45145	0.681000	0.31386	0.655000	0.94253	CCA		TCGA-IB-A6UG-01A-32D-A33T-08	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	1	0	0	55	505	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1.000000	55	498	0	103	2		0	0	0	0	104	2	-2.806910	1	1	0	0		1	1	2	3	1.966308	0	0.220000	3.280000	0.297297	0.980000	0.750000	1.000000	1.000000	0.949885	0.980000	1	8.600000e-01	1
TMEM198	130612	broad.mit.edu	37	2	220414551	220414551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:220414551G>T	ENST00000344458.2	+	6	1643	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F			Q66K66	TM198_HUMAN	transmembrane protein 198			16		Renal(207;0.0376)			CTGACAGCCTGCTCAGGCCCC	0.627000																								0							SO:0001583	missense			ENST00000344458.2	1	1	hg19	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385363	0.42308	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.567610	0.18237	N	0.147345	T	0.41442	0.1159	N	0.08118	0	0.42499	D	0.992924	B	0.29909	0.261	B	0.28139	0.086	T	0.41288	-0.9517	9	0.46703	T	0.11	-22.6022	18.6999	0.91617	0.0:0.0:1.0:0.0	.	353	Q66K66	TM198_HUMAN	F	353	.	ENSP00000343507:C353F	C	+	2	0	TMEM198	220122795	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.327000	0.52045	2.824000	0.97209	0.655000	0.94253	TGC		TCGA-IB-A6UG-01A-32D-A33T-08	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	1	0	0	42	476	0	102	0	4.697136e-01	1	18	0	102	2		0	0	0	0	0	2	1	1.000000	42	474	0	100	2		0	0	0	0	102	2	-20.000000	1	0	0	0		1	1	2	3	1.966308	0	0.220000	3.280000	0.297297	0.810000	0.600000	1.000000	1.000000	0.825001	0.810000	0	7.000000e-01	9.500000e-01
SPHKAP	80309	broad.mit.edu	37	2	228996774	228996774	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:228996774G>A	ENST00000392056.3	-	2	106	c.60C>T	c.(58-60)gaC>gaT	p.D20D	SPHKAP_ENST00000344657.5_Silent_p.D20D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing			185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			GTTCCAAAACGTCATACATCC	0.463000																								0							SO:0001819	synonymous_variant			ENST00000392056.3	1	1	hg19	CCDS46537.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	1	0	1	55	364	0	73		0	0	0	0	73	2		0	0	0	0	0	2	1	1.000000	55	360	0	73	2		0	0	0	0	73	2	-19.999120	1	1	0	0		1	1	2	3	1.966308	0	0.220000	3.280000	0.297297	0.990000	0.990000	1.000000	1.000000	0.999214	0.990000	1	9.900000e-01	1
KIF1A	547	broad.mit.edu	37	2	241679772	241679772	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:241679772C>T	ENST00000320389.7	-	34	3614	c.3456G>A	c.(3454-3456)ccG>ccA	p.P1152P	KIF1A_ENST00000498729.2_Silent_p.P1253P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A			66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			CCACCACGGCCGGGATGTAAC	0.652000																								0							SO:0001819	synonymous_variant			ENST00000320389.7	1	1	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824643	0.16678	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.3	-8.6	0.00889	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	0.4882	0.00559	0.3187:0.2189:0.1339:0.3285	.	.	.	.	Q	76	.	.	R	-	2	0	KIF1A	241328445	0.000000	0.05858	0.332000	0.25469	0.904000	0.53231	-1.756000	0.01813	-2.439000	0.00551	-1.728000	0.00702	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1	73	216	0	55	0	8.747266e-01	0	13	0	55	2		0	0	0	0	0	2	1	1.000000	71	213	0	54	2		0	0	0	0	55	2	-5.023670	1	1	121014	5	36	1	1	2	3	1.966308	0	0.220000	3.280000	0.297297	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
POMC	5443	broad.mit.edu	37	2	25384428	25384428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:25384428G>A	ENST00000405623.1	-	3	781	c.326C>T	c.(325-327)gCg>gTg	p.A109V	POMC_ENST00000264708.3_Missense_Mutation_p.A109V|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_Missense_Mutation_p.A109V|POMC_ENST00000380794.1_Missense_Mutation_p.A109V			P01189	COLI_HUMAN	proopiomelanocortin			12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			Loperamide(DB00836)	GTCTTCGCCCGCTGAGACGTC	0.721000													Colon(110;1515 1566 8452 10082 43216)											0							SO:0001583	missense			ENST00000405623.1	0	1	hg19	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500039	0.12762	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79554	-1.27;-1.27;-1.27;-1.27;-1.28	4.67	-2.23	0.06930	.	0.794205	0.10616	N	0.653875	T	0.50633	0.1627	N	0.03050	-0.425	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.37361	-0.9709	10	0.39692	T	0.17	-10.6454	1.6553	0.02780	0.3084:0.2269:0.3493:0.1154	.	109	P01189	COLI_HUMAN	V	109	ENSP00000370171:A109V;ENSP00000384092:A109V;ENSP00000264708:A109V;ENSP00000379170:A109V;ENSP00000387993:A109V	ENSP00000264708:A109V	A	-	2	0	POMC	25237932	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.224000	0.17738	-0.089000	0.12484	0.462000	0.41574	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	1	0	0	9	51	0	10	0	1.298963e-01	0	4	0	10	2		0	0	0	0	0	2	1	0.994642	9	49	0	10	2		0	0	0	0	10	2	-19.953260	1	1	0	0		1	1	2	3	1.949331	0	0.220000	3.280000	0.297297	0.990000	0.780000	1.000000	1.000000	0.986281	0.990000	1	9.900000e-01	1
KIAA1407	57577	broad.mit.edu	37	3	113755633	113755633	+	Splice_Site	SNP	T	T	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113755633T>A	ENST00000295878.3	-	5	562	c.416A>T	c.(415-417)gAt>gTt	p.D139V	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407			40					GCCACATAAATCTGGGGGAAA	0.294000																								0							SO:0001630	splice_region_variant			ENST00000295878.3	0	1	hg19	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949426	0.73787	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.52983	1.26;0.64	5.28	5.28	0.74379	.	0.056870	0.64402	D	0.000002	T	0.62660	0.2446	L	0.55481	1.735	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.989	P;D;P	0.66497	0.9;0.944;0.892	T	0.64521	-0.6388	10	0.56958	D	0.05	.	15.3725	0.74577	0.0:0.0:0.0:1.0	.	126;15;139	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	V	139;126;103	ENSP00000295878:D139V;ENSP00000418099:D126V	ENSP00000295878:D139V	D	-	2	0	KIAA1407	115238323	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	5.908000	0.69916	2.207000	0.71202	0.528000	0.53228	GAT		TCGA-IB-A6UG-01A-32D-A33T-08	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	0	0	0	44	194	0	38	0	6.813097e-01	0	12	0	38	2		0	0	0	0	0	2	1	1.000000	44	193	0	38	2		0	0	0	0	38	2	-20.000000	1	1	0	0		1	2	2	4	2.111415	1	0.220000	3.280000	0.354839	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TRANK1	9881	broad.mit.edu	37	3	36896676	36896676	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:36896676T>C	ENST00000429976.2	-	12	4652	c.4405A>G	c.(4405-4407)Agg>Ggg	p.R1469G	TRANK1_ENST00000428977.2_Missense_Mutation_p.R919G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1			73					GAGTGGGACCTGTAATTCTGG	0.527000																								0							SO:0001583	missense			ENST00000429976.2	0	1	hg19	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714865	0.68844	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.98090	-4.71;-4.71;-4.71	5.54	2.99	0.34606	.	0.000000	0.64402	D	0.000006	D	0.98248	0.9420	M	0.72894	2.215	0.42207	D	0.99179	D	0.89917	1.0	D	0.83275	0.996	D	0.98977	1.0803	10	0.87932	D	0	.	13.4212	0.60998	0.0:0.0:0.304:0.696	.	1469	O15050	TRNK1_HUMAN	G	919;1469;919	ENSP00000416826:R919G;ENSP00000416168:R1469G;ENSP00000301807:R919G	ENSP00000301807:R919G	R	-	1	2	TRANK1	36871680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.445000	0.21677	1.021000	0.39600	0.459000	0.35465	AGG		TCGA-IB-A6UG-01A-32D-A33T-08	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	4	200	0	33	0	1.320877e-02	0	7	0	33	2		0	0	0	0	0	2	1	0.888885	4	198	0	33	2		0	0	0	0	33	2	-3.272842	1	1	0	0		1	2	2	4	2.111415	1	0.220000	3.280000	0.354839	0.240000	0.070000	1.000000	0.200000	0.292329	0.240000	0	1.400000e-01	4.000000e-01
PDZRN3	23024	broad.mit.edu	37	3	73433515	73433515	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73433515G>A	ENST00000263666.4	-	10	2316	c.2202C>T	c.(2200-2202)gaC>gaT	p.D734D	PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000466780.1_Silent_p.D391D|PDZRN3_ENST00000479530.1_Silent_p.D451D|PDZRN3_ENST00000462146.2_Silent_p.D391D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			GTCTGCGCACGTCGATGCTGG	0.612000																								0							SO:0001819	synonymous_variant			ENST00000263666.4	1	1	hg19	CCDS33789.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	49	203	0	58	0	6.100392e-01	0	10	0	58	2		0	0	0	0	0	2	1	1.000000	49	201	0	58	2		0	0	0	0	58	2	-20.000000	1	1	0	0		1	2	2	4	2.111415	1	0.220000	3.280000	0.354839	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PDZRN3	23024	broad.mit.edu	37	3	73434878	73434878	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73434878T>C	ENST00000263666.4	-	9	1691	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			CTCCAGCATGTCCATGTGCAG	0.567000																								0							SO:0001583	missense			ENST00000263666.4	1	1	hg19	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.35|18.35	3.603678|3.603678	0.66445|0.66445	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.10477|.	2.87;3.59;3.48;3.48;3.59;3.58|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70029|0.70029	0.3177|0.3177	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;D;B;D|.	0.89917|.	0.004;1.0;0.005;0.999|.	B;D;B;D|.	0.87578|.	0.02;0.998;0.013;0.995|.	T|T	0.68625|0.68625	-0.5359|-0.5359	10|5	0.32370|.	T|.	0.25|.	.|.	15.4073|15.4073	0.74890|0.74890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	248;243;243;526|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	G|A	526;248;183;183;243;526;224|123	ENSP00000263666:D526G;ENSP00000442026:D248G;ENSP00000418168:D183G;ENSP00000418484:D183G;ENSP00000418624:D243G;ENSP00000419250:D224G|.	ENSP00000263666:D526G|.	D|T	-|-	2|1	0|0	PDZRN3|PDZRN3	73517568|73517568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.852000|7.852000	0.86927|0.86927	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAC|ACA		TCGA-IB-A6UG-01A-32D-A33T-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	0	34	436	0	79	0	1.154710e-01	0	8	0	79	2		0	0	0	0	0	2	1	1.000000	33	435	0	79	2		0	0	0	0	79	2	-9.208489	1	1	0	0		1	2	2	4	2.111415	1	0.220000	3.280000	0.354839	0.800000	0.560000	1.000000	1.000000	0.813223	0.800000	0	6.700000e-01	9.600000e-01
TRPC3	7222	broad.mit.edu	37	4	122846207	122846207	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:122846207C>T	ENST00000379645.3	-	3	1215	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	TRPC3_ENST00000264811.5_Missense_Mutation_p.R308H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	p.R308P(1)		51					AAGTTTGACACGACTTAATGA	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000379645.3	1	1	hg19	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670425	0.96754	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74315	-0.83;-0.83;-0.83	5.92	5.92	0.95590	.	0.075570	0.56097	D	0.000024	D	0.89643	0.6774	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.996	P;D;P	0.70716	0.684;0.97;0.781	D	0.90928	0.4788	10	0.87932	D	0	-16.1466	20.3081	0.98638	0.0:1.0:0.0:0.0	.	296;308;381	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	308;381;308	ENSP00000264811:R308H;ENSP00000368966:R381H;ENSP00000426899:R308H	ENSP00000264811:R308H	R	-	2	0	TRPC3	123065657	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.755000	0.85180	2.795000	0.96236	0.655000	0.94253	CGT		TCGA-IB-A6UG-01A-32D-A33T-08	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	1	0	1	96	475	0	93		0	0	0	0	93	2	0	0	1	0	0	0	2	1	1.000000	95	470	0	93	2		0	0	0	0	93	2	-20.000000	1	1	121412	1	37	1	1	2	3	1.965441	0	0.220000	3.280000	0.297297	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SLC12A7	10723	broad.mit.edu	37	5	1083957	1083957	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1083957G>A	ENST00000264930.5	-	8	1075	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7			32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)	Potassium Chloride(DB00761)	GCTGGGAGCCGTTGCAGAAGA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000264930.5	0	1	hg19	CCDS34129.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	0	0	0	5	466	0	86	0	2.077010e-01	0	66	0	86	2		0	0	0	0	0	2	1	0.935364	5	459	0	84	2		0	0	0	0	86	2	-3.295407	1	1	121174	34	43	1	2	4	6	2.534355	1	0.220000	3.280000	0.458333	0.150000	0.030000	0.310000	0.130000	0.165380	0.150000	0	9.000000e-02	2.300000e-01
SLC6A18	348932	broad.mit.edu	37	5	1246093	1246093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1246093G>A	ENST00000324642.3	+	12	1910	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18			34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		CGGCGGAGGCGGACGTGGAGG	0.731000																								0							SO:0001583	missense			ENST00000324642.3	0	1	hg19	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599235	0.13939	.	.	ENSG00000164363	ENST00000324642	T	0.74002	-0.8	4.41	0.824	0.18818	.	6.616820	0.01082	N	0.005003	T	0.53077	0.1774	N	0.08118	0	0.09310	N	0.999999	B	0.21147	0.052	B	0.06405	0.002	T	0.41592	-0.9500	10	0.12766	T	0.61	.	6.3418	0.21327	0.4495:0.0:0.5505:0.0	.	596	Q96N87	S6A18_HUMAN	Q	596	ENSP00000323549:R596Q	ENSP00000323549:R596Q	R	+	2	0	SLC6A18	1299093	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.408000	0.02485	-0.179000	0.10654	0.305000	0.20034	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	1	0	0	9	144	0	17		0	0	0	0	17	2		0	0	0	0	0	2	1	0.993779	9	139	0	17	2		0	0	0	0	17	2	-13.054980	1	1	0	0		1	2	4	6	2.534355	1	0.220000	3.280000	0.458333	0.800000	0.400000	1.000000	1.000000	0.792628	0.800000	0	5.700000e-01	1
DNAH5	1767	broad.mit.edu	37	5	13776708	13776708	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:13776708G>A	ENST00000265104.4	-	55	9317	c.9213C>T	c.(9211-9213)caC>caT	p.H3071H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				TGAAGTAGTCGTGCAGGTTCT	0.468000									Kartagener syndrome															0							SO:0001819	synonymous_variant	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	0	1	hg19	CCDS3882.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	0	0	0	8	569	0	85	0	2.680007e-04	0	2	0	85	2		0	0	0	0	0	2	1	0.988908	8	562	0	85	2		0	0	0	0	85	2	-2.924833	1	1	121410	2	38	1	2	4	6	2.534355	1	0.220000	3.280000	0.458333	0.190000	0.070000	0.350000	0.180000	0.203107	0.190000	0	1.200000e-01	2.700000e-01
PCDHA10	56139	broad.mit.edu	37	5	140236911	140236911	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140236911G>A	ENST00000307360.5	+	1	1278	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10			79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGGTGACCGCGCGGGACGGGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000307360.5	1	1	hg19	CCDS54921.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	1	0	1	203	684	0	236	0	0	0	1	0	236	2		0	0	0	0	0	2	1	1.000000	202	682	0	235	2		0	0	0	0	236	2	-20.000000	1	1	0	0		1	0	2	2	1.763896	1	0.220000	3.280000	0.220000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GRIA1	2890	broad.mit.edu	37	5	153174277	153174277	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:153174277C>T	ENST00000285900.5	+	14	2710	c.2367C>T	c.(2365-2367)agC>agT	p.S789S	GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000518783.1_Silent_p.S799S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1			81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTGCGGCAGCGGGGGAGGTG	0.463000																								0							SO:0001819	synonymous_variant			ENST00000285900.5	1	1	hg19	CCDS4322.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3	1	0	1	40	180	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	40	178	0	46	2		0	0	0	0	46	2	-3.886840	1	1	121412	1	28	1	0	2	2	1.763896	1	0.220000	3.280000	0.220000	0.990000	0.990000	1.000000	1.000000	0.999960	0.990000	1	9.900000e-01	1
KIF4B	285643	broad.mit.edu	37	5	154393886	154393886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:154393886G>A	ENST00000435029.4	+	1	627	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	p.R156L(2)		58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		TGCCCATCTCGTGAGAAAGCT	0.358000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000435029.4	1	1	hg19	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.001	0.980005	0.18812	.	.	ENSG00000226650	ENST00000435029	T	0.72835	-0.69	1.73	0.834	0.18880	Kinesin, motor domain (4);	.	.	.	.	T	0.57169	0.2035	L	0.39514	1.22	0.36431	D	0.864927	B	0.14012	0.009	B	0.18561	0.022	T	0.55256	-0.8169	9	0.54805	T	0.06	.	6.1483	0.20298	0.1824:0.0:0.8176:0.0	.	156	Q2VIQ3	KIF4B_HUMAN	H	156	ENSP00000387875:R156H	ENSP00000387875:R156H	R	+	2	0	KIF4B	154374079	0.001000	0.12720	0.940000	0.37924	0.851000	0.48451	-1.547000	0.02186	0.307000	0.22880	0.655000	0.94253	CGT		TCGA-IB-A6UG-01A-32D-A33T-08	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	1	0	1	135	509	1	113		0	0	0	1	113	2		0	0	0	0	0	2	1	1.000000	132	507	1	113	19		0	0	0	1	113	2	-20.000000	1	1	121412	3	38	1	0	2	2	1.763896	1	0.220000	3.280000	0.220000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7			60					AGACCATCAACGTGGACCGCG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000504595.1	0	1	hg19	CCDS54833.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	1	0	0	7	130	0	18	0	3.204897e-02	0	5	0	18	2		0	0	0	0	0	2	1	0.979953	7	127	0	17	2		0	0	0	0	18	2	-10.625520	1	1	0	0		1	2	4	6	2.534355	1	0.220000	3.280000	0.458333	0.710000	0.320000	1.000000	1.000000	0.719186	0.710000	0	4.800000e-01	9.900000e-01
FLT4	2324	broad.mit.edu	37	5	180051060	180051060	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180051060G>A	ENST00000261937.6	-	11	1501	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Splice_Site_p.R475W|FLT4_ENST00000393347.3_Splice_Site_p.R475W	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4			71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGCCGCCGGCTGCCAGGA	0.647000													Colon(97;1075 1466 27033 27547 35871)											0							SO:0001630	splice_region_variant			ENST00000261937.6	1	0	hg19	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228890	0.39399	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.77489	-1.1;-1.09;-1.09	4.79	2.85	0.33270	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);	.	.	.	.	T	0.68650	0.3024	N	0.08118	0	0.43462	D	0.995669	D;D;D;D	0.71674	0.998;0.998;0.996;0.998	P;P;P;P	0.58970	0.849;0.809;0.72;0.72	T	0.66344	-0.5947	9	0.37606	T	0.19	.	7.737	0.28821	0.084:0.0:0.7557:0.1603	.	475;285;475;475	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	475;475;475;285	ENSP00000261937:R475W;ENSP00000377016:R475W;ENSP00000426057:R475W	ENSP00000261937:R475W	R	-	1	2	FLT4	179983666	0.775000	0.28604	0.985000	0.45067	0.017000	0.09413	0.047000	0.14056	1.163000	0.42636	-0.258000	0.10820	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	1	0	1	28	187	0	47	0	1.874583e-01	0	6	0	47	2		0	0	0	0	0	2	1	1.000000	28	184	0	45	2		0	0	0	0	47	2	-20.000000	1	1	121272	3	33	1	0	2	2	1.763896	1	0.220000	3.280000	0.220000	0.990000	0.810000	1.000000	1.000000	0.983675	0.990000	1	9.800000e-01	1
ADAMTS12	81792	broad.mit.edu	37	5	33576636	33576636	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:33576636C>A	ENST00000504830.1	-	19	3830	c.3495G>T	c.(3493-3495)caG>caT	p.Q1165H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12			216					TGTCCTCAGGCTGTTCTCTTT	0.473000										HNSCC(64;0.19)														0							SO:0001583	missense			ENST00000504830.1	1	1	hg19	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323334	0.10900	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.22;0.21	5.28	-0.364	0.12553	.	1.070710	0.07089	N	0.838451	T	0.50497	0.1619	L	0.32530	0.975	0.09310	N	1	P;P	0.46220	0.874;0.8	P;B	0.48141	0.568;0.365	T	0.43540	-0.9385	10	0.15499	T	0.54	.	9.923	0.41474	0.0:0.5766:0.0:0.4234	.	1080;1165	P58397-3;P58397	.;ATS12_HUMAN	H	1165;1080	ENSP00000422554:Q1165H;ENSP00000344847:Q1080H	ENSP00000344847:Q1080H	Q	-	3	2	ADAMTS12	33612393	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.263000	0.18478	0.012000	0.14892	0.655000	0.94253	CAG		TCGA-IB-A6UG-01A-32D-A33T-08	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	1	0	1	86	429	0	105	0	4.594746e-01	0	9	0	105	2		0	0	0	0	0	2	1	1.000000	86	425	0	104	2		0	0	0	0	105	2	-20.000000	1	1	0	0		1	2	2	4	2.143143	1	0.220000	3.280000	0.360656	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAMTS16	170690	broad.mit.edu	37	5	5191804	5191804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:5191804C>T	ENST00000274181.7	+	8	1352	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A405V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					ACAGGATTTGCACCCATAAGT	0.388000																								0							SO:0001583	missense			ENST00000274181.7	0	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870816	0.91587	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.95656	-3.77;-3.77	4.74	4.74	0.60224	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.995	D;D;D	0.75020	0.939;0.985;0.976	D	0.99818	1.1045	10	0.87932	D	0	.	16.5194	0.84309	0.0:1.0:0.0:0.0	.	405;405;405	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	V	405	ENSP00000274181:A405V;ENSP00000421631:A405V	ENSP00000274181:A405V	A	+	2	0	ADAMTS16	5244804	1.000000	0.71417	0.952000	0.39060	0.889000	0.51656	7.324000	0.79115	2.186000	0.69663	0.655000	0.94253	GCA		TCGA-IB-A6UG-01A-32D-A33T-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	0	0	6	613	0	86	0	4.307491e-04	0	3	0	86	2		0	0	0	0	0	2	1	0.964577	7	609	0	86	2		0	0	0	0	86	2	-2.178036	0	1	0	0		1	2	4	6	2.534355	1	0.220000	3.280000	0.458333	0.130000	0.030000	0.270000	0.120000	0.147143	0.130000	0	8.000000e-02	2.000000e-01
ZNF184	7738	broad.mit.edu	37	6	27419354	27419354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:27419354G>A	ENST00000211936.6	-	6	2268	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R662*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184			48					GTGTGAATTCGTTGATGCTGA	0.423000																								0							SO:0001587	stop_gained			ENST00000211936.6	0	0	hg19	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.740066	0.97805	0.0	1.16E-4	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	.	.	.	4.85	2.87	0.33458	.	0.385319	0.19188	N	0.120492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.467	0.44614	0.0:0.0:0.4853:0.5147	.	.	.	.	X	662;662;578	.	ENSP00000211936:R662X	R	-	1	2	ZNF184	27527333	0.006000	0.16342	0.276000	0.24689	0.998000	0.95712	1.414000	0.34736	1.336000	0.45506	0.591000	0.81541	CGA		TCGA-IB-A6UG-01A-32D-A33T-08	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	1	0	1	40	347	0	77	1	3.253306e-01	3	8	0	77	2		0	0	0	0	0	2	1	1.000000	40	344	0	77	2		0	0	0	0	77	2	-3.142702	1	1	121412	1	18	1	0	2	2	1.759974	1	0.220000	3.280000	0.220000	0.930000	0.680000	1.000000	1.000000	0.914488	0.930000	1	8.000000e-01	1
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.G55D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein			55					GCATTTCTTGCCGCCCGAACT	0.602000			Mis, F, N		Pancreatic neuroendocrine tumors. Paediatric GBM										Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0							SO:0001583	missense			ENST00000374542.5	0	1	hg19	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608951	0.28623	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	4.89	4.02	0.46733	.	0.660504	0.16364	N	0.217655	T	0.29355	0.0731	L	0.36672	1.1	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.03503	-1.1030	9	0.25106	T	0.35	-0.4917	10.4358	0.44435	0.1947:0.8053:0.0:0.0	.	67;55	B4E1C1;Q9UER7	.;DAXX_HUMAN	D	55	.	ENSP00000266000:G55D	G	-	2	0	DAXX	33397517	0.869000	0.29996	0.983000	0.44433	0.735000	0.41995	1.033000	0.30191	1.281000	0.44480	0.549000	0.68633	GGC		TCGA-IB-A6UG-01A-32D-A33T-08	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1	0	0	0	7	1316	1	290	0	2.296276e-02	0	37	1	290	2		0	0	0	0	0	2	0	0.029433	7	1302	1	287	17		0	0	0	1	290	2	-2.138773	0	1	0	0		1	0	2	2	1.773331	1	0.220000	3.280000	0.220000	0.040000	0.010000	0.100000	0.050000	0.054794	0.040000	0	2.000000e-02	7.000000e-02
KIF6	221458	broad.mit.edu	37	6	39513398	39513398	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:39513398C>T	ENST00000287152.7	-	11	1342	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	KIF6_ENST00000538893.1_Silent_p.A416A|KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6			52					TACGCATATCCGCGCCAACCT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000287152.7	1	1	hg19	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	1.650	-0.514326	0.04200	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.56	-10.3	0.00346	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.47584	D	0.999465	.	.	.	.	.	.	T	0.48990	-0.8985	4	.	.	.	.	6.4908	0.22115	0.2761:0.1099:0.5103:0.1038	.	.	.	.	Q	308	.	.	R	-	2	0	KIF6	39621376	0.004000	0.15560	0.015000	0.15790	0.301000	0.27625	-1.882000	0.01624	-1.844000	0.01178	-2.773000	0.00119	CGG		TCGA-IB-A6UG-01A-32D-A33T-08	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	1	0	1	55	367	0	66		0	0	0	0	66	2		0	0	0	0	0	2	1	1.000000	54	360	0	66	2		0	0	0	0	66	2	-2.540688	1	1	121410	3	36	1	2	2	4	2.168044	1	0.220000	3.280000	0.360656	0.990000	0.990000	1.000000	1.000000	0.999874	0.990000	1	9.900000e-01	1
SUPT3H	8464	broad.mit.edu	37	6	44929553	44929553	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:44929553G>T	ENST00000371459.1	-	7	682	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K	SUPT3H_ENST00000306867.5_Missense_Mutation_p.Q173K|SUPT3H_ENST00000371461.2_Missense_Mutation_p.Q184K|SUPT3H_ENST00000371460.1_Missense_Mutation_p.Q184K	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)			12					ATTCGAGTTTGTCTTTCTGCT	0.274000																								0							SO:0001583	missense			ENST00000371459.1	1	0	hg19	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344276	0.41498	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.42900	0.96;0.98;0.98;0.96	5.69	5.69	0.88448	.	0.269901	0.43260	D	0.000594	T	0.48642	0.1511	L	0.45581	1.43	0.53005	D	0.999967	B;D	0.54964	0.169;0.969	B;D	0.64877	0.075;0.93	T	0.15407	-1.0438	10	0.26408	T	0.33	.	19.8205	0.96591	0.0:0.0:1.0:0.0	.	184;255	O75486-3;O75486	.;SUPT3_HUMAN	K	184;173;173;184	ENSP00000360515:Q184K;ENSP00000360514:Q173K;ENSP00000306718:Q173K;ENSP00000360516:Q184K	ENSP00000306718:Q173K	Q	-	1	0	SUPT3H	45037531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.017000	0.70805	2.670000	0.90874	0.585000	0.79938	CAA		TCGA-IB-A6UG-01A-32D-A33T-08	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	1	0	0	17	341	0	58	0	4.402228e-01	0	30	0	58	2		0	0	0	0	0	2	0	0.999945	0	336	0	58	2		0	0	0	0	58	2	-18.070020	1	0	0	0		1	1	3	4	2.112062	0	0.220000	3.280000	0.360656	0.530000	0.320000	0.800000	0.520000	0.551738	0.530000	0	4.100000e-01	6.700000e-01
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	p.A343V(3)		21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000402938.3	0	1	hg19	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3	0	0	0	4	223	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.890111	4	222	0	46	2		0	0	0	0	46	2	-3.062005	1	1	121412	1	29	1	0	2	2	1.766904	1	0.220000	3.280000	0.220000	0.170000	0.050000	0.380000	0.160000	0.195388	0.170000	0	1.000000e-01	2.800000e-01
SSPO	23145	broad.mit.edu	37	7	149500902	149500902	+	RNA	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:149500902G>T	ENST00000378016.2	+	0	8219							A2VEC9	SSPO_HUMAN	SCO-spondin				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CCAGGTTCAGGTGTGCGACAG	0.697000																								0											ENST00000378016.2	1	0	hg19																																																																																					TCGA-IB-A6UG-01A-32D-A33T-08	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		1	0	1	25	104	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	1.000000	25	104	0	26	2		0	0	0	0	26	2	-20.000000	1	1	0	0		1	1	2	3	1.942062	0	0.220000	3.280000	0.296600	0.990000	0.990000	1.000000	1.000000	0.999968	0.990000	1	9.900000e-01	1
FER1L6	654463	broad.mit.edu	37	8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6			118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)		GCCTATGCCCGCATCGCCTCC	0.527000																								0							SO:0001583	missense			ENST00000522917.1	0	1	hg19	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971850	0.92919	0.0	1.2E-4	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79352	-1.26;-1.26	5.81	5.81	0.92471	Ferlin B-domain (1);	0.162857	0.34435	U	0.003970	D	0.89550	0.6747	M	0.91663	3.23	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	D	0.91017	0.4854	10	0.72032	D	0.01	.	12.8851	0.58038	0.0779:0.0:0.9221:0.0	.	734	Q2WGJ9	FR1L6_HUMAN	H	734	ENSP00000428280:R734H;ENSP00000381982:R734H	ENSP00000381982:R734H	R	+	2	0	FER1L6	125104932	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	9.072000	0.93986	2.751000	0.94390	0.555000	0.69702	CGC		TCGA-IB-A6UG-01A-32D-A33T-08	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	0	0	8	702	0	87	0	5.263936e-04	0	3	0	87	2		0	0	0	0	0	2	1	0.988974	9	694	0	87	2		0	0	0	0	87	2	-2.094368	0	1	120906	9	42	1	3	4	7	2.619755	1	0.220000	3.280000	0.476334	0.160000	0.060000	1.000000	0.140000	0.244907	0.160000	0	1.000000e-01	2.600000e-01
COL22A1	169044	broad.mit.edu	37	8	139737642	139737642	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:139737642C>T	ENST00000303045.6	-	24	2627	c.2181G>A	c.(2179-2181)ccG>ccA	p.P727P	COL22A1_ENST00000435777.1_Silent_p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1			211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		GAGAACCTCCCGGTCCAGGGG	0.582000										HNSCC(7;0.00092)														0							SO:0001819	synonymous_variant			ENST00000303045.6	1	1	hg19	CCDS6376.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	1	0	1	170	544	0	91	1	8.513645e-01	9	4	0	91	2		0	0	0	0	0	2	1	1.000000	167	534	0	91	2		0	0	0	0	91	2	-4.408309	1	1	121410	7	42	1	3	4	7	2.619755	1	0.220000	3.280000	0.476334	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRA1A	148	broad.mit.edu	37	8	26627895	26627895	+	Missense_Mutation	SNP	G	G	A	rs151273238	by1000genomes	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:26627895G>A	ENST00000519229.1	-	2	1178	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380573.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A			36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AACGCCATCCGTCTTGGAGAT	0.562000																								0							SO:0001583	missense			ENST00000519229.1	1	1	hg19		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	14.75	2.627392	0.46944	4.54E-4	2.33E-4	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62941	2.02;0.07;0.05;-0.01;0.06;0.06	5.96	5.06	0.68205	.	0.667620	0.14213	N	0.333955	T	0.64159	0.2573	L	0.51422	1.61	0.80722	D	1	P;P;P;D	0.54772	0.521;0.954;0.851;0.968	B;P;B;B	0.46049	0.128;0.502;0.332;0.374	T	0.67122	-0.5750	10	0.72032	D	0.01	.	16.2148	0.82198	0.0:0.0:0.8577:0.1423	.	391;391;391;391	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	M	391	ENSP00000369960:T391M;ENSP00000369956:T391M;ENSP00000430793:T391M;ENSP00000346557:T391M;ENSP00000276393:T391M;ENSP00000369947:T391M	ENSP00000276393:T391M	T	-	2	0	ADRA1A	26683812	1.000000	0.71417	0.954000	0.39281	0.837000	0.47467	4.852000	0.62904	1.445000	0.47624	0.655000	0.94253	ACG		TCGA-IB-A6UG-01A-32D-A33T-08	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	1	0	1	74	566	0	133		0	0	0	0	133	2		0	0	0	0	0	2	1	1.000000	74	562	0	132	2		0	0	0	0	133	2	-11.297450	1	1	121412	23	49	1	1	2	3	1.792119	0	0.220000	3.280000	0.230997	0.990000	0.850000	1.000000	1.000000	0.983539	0.990000	1	9.500000e-01	1
FZD3	7976	broad.mit.edu	37	8	28385210	28385210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:28385210G>T	ENST00000240093.3	+	5	1411	c.933G>T	c.(931-933)tgG>tgT	p.W311C	FZD3_ENST00000537916.1_Missense_Mutation_p.W311C|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3			41		Ovarian(32;2.06e-05)			CCATCACATGGTTTTTAGCAG	0.433000																								0							SO:0001583	missense			ENST00000240093.3	1	1	hg19	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476133	0.63737	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	311	Q9NPG1	FZD3_HUMAN	C	311	ENSP00000437489:W311C;ENSP00000240093:W311C	ENSP00000240093:W311C	W	+	3	0	FZD3	28441129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	TGG		TCGA-IB-A6UG-01A-32D-A33T-08	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	1	0	1	53	379	0	80	0	1.655719e-01	0	6	0	80	2		0	0	0	0	0	2	1	1.000000	53	378	0	78	2		0	0	0	0	80	2	-19.954380	1	1	0	0		1	1	2	3	1.792119	0	0.220000	3.280000	0.230997	0.990000	0.870000	1.000000	1.000000	0.989439	0.990000	1	9.900000e-01	1
MRPL15	29088	broad.mit.edu	37	8	55049226	55049226	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:55049226G>A	ENST00000260102.4	+	2	337		c.e2+1			NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15			10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		AAGGACATAGGTAAGGTTGCT	0.418000																								0							SO:0001630	splice_region_variant			ENST00000260102.4	1	1	hg19	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645927	0.67358	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.05	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9287	0.70898	0.0:0.0:0.8558:0.1441	.	.	.	.	.	-1	.	.	.	+	.	.	MRPL15	55211779	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.855000	0.99526	1.326000	0.45319	-0.181000	0.13052	.		TCGA-IB-A6UG-01A-32D-A33T-08	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	1	0	1	80	413	0	65	1	2.705279e-02	2	0	0	65	2		0	0	0	0	0	2	1	1.000000	80	410	0	65	2		0	0	0	0	65	2	-20.000000	1	1	121412	1	28	1	3	3	6	2.268370	1	0.220000	3.280000	0.397590	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MMP16	4325	broad.mit.edu	37	8	89198805	89198805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:89198805C>T	ENST00000286614.6	-	3	585	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)			81				Marimastat(DB00786)	TCAGGTACACCGCATCGGGGC	0.378000																								0							SO:0001583	missense			ENST00000286614.6	1	1	hg19	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102432	0.94245	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.65549	-0.16;-0.16	5.72	5.72	0.89469	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.985	T	0.79757	-0.1669	10	0.41790	T	0.15	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	102;102	P51512-2;P51512	.;MMP16_HUMAN	S	102;119	ENSP00000286614:G102S;ENSP00000429147:G119S	ENSP00000286614:G102S	G	-	1	0	MMP16	89267921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.710000	0.92621	0.585000	0.79938	GGT		TCGA-IB-A6UG-01A-32D-A33T-08	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	1	0	0	50	769	0	113	0	0	0	1	0	113	2		0	0	0	0	0	2	1	1.000000	48	744	0	113	2		0	0	0	0	113	2	-2.402339	0	1	121410	2	35	1	3	4	7	2.619755	1	0.220000	3.280000	0.476334	0.840000	0.620000	1.000000	1.000000	0.849201	0.840000	0	7.200000e-01	1
RAD54B	25788	broad.mit.edu	37	8	95419794	95419794	+	Silent	SNP	C	C	T	rs113276250	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:95419794C>T	ENST00000336148.5	-	5	778	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)			39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)		GAGAAGAATGCGAGATAGCAG	0.398000								Direct reversal of damage;Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000336148.5	0	1	hg19	CCDS6262.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	0	0	0	5	471	0	80	0	2.631803e-03	0	6	0	80	2		0	0	0	0	0	2	1	0.936101	5	466	0	78	2		0	0	0	0	80	2	-2.382980	0	1	121408	95	53	1	3	4	7	2.619755	1	0.220000	3.280000	0.476334	0.160000	0.030000	1.000000	0.130000	0.243051	0.160000	0	9.000000e-02	2.800000e-01
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4			23					GCCTCTTGTGCGGCTGATGGC	0.468000																								0							SO:0001583	missense			ENST00000374198.4	0	1	hg19	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		TCGA-IB-A6UG-01A-32D-A33T-08	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	0	0	0	10	1786	0	338	0	2.782200e-02	0	41	0	338	2		0	0	0	0	0	2	1	0.996804	10	1780	0	337	2		0	0	0	0	338	2	-2.138998	0	1	121412	4	43	1	1	2	3	1.945305	0	0.220000	3.280000	0.292389	0.050000	0.010000	1.000000	0.060000	0.114169	0.050000	0	3.000000e-02	9.000000e-02
COL27A1	85301	broad.mit.edu	37	9	117029789	117029789	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:117029789G>A	ENST00000356083.3	+	34	3844	c.3453G>A	c.(3451-3453)ccG>ccA	p.P1151P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1			80					TTCAGGGGCCGCCTGGTGCAG	0.562000																								0							SO:0001819	synonymous_variant			ENST00000356083.3	1	1	hg19	CCDS6802.1																																																																																				TCGA-IB-A6UG-01A-32D-A33T-08	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	1	0	0	20	202	0	30	0	6.784022e-01	0	25	0	30	2		0	0	0	0	0	2	1	0.999996	20	201	0	30	2		0	0	0	0	30	2	-3.142705	1	1	121412	5	39	1	1	2	3	1.945305	0	0.220000	3.280000	0.292389	0.920000	0.580000	1.000000	1.000000	0.887802	0.920000	1	7.300000e-01	1
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)			TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	GRCh37	CM014695	CDKN2A	M	rs121913388	SO:0001587	stop_gained			ENST00000304494.5	0	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		TCGA-IB-A6UG-01A-32D-A33T-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	49	100	0	28	1	1	97	8	0	28	2	1	1	55	116	0	97	2	1	1.000000	40	83	0	25	2		0	0	0	0	28	2	-6.798055	1	1	0	0		1	0	3	3	1.930506	1	0.220000	3.280000	0.296600	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KIAA1432	0	broad.mit.edu	37	9	5765691	5765691	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:5765691C>T	ENST00000414202.2	+	21	3221	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F	KIAA1432_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000418622.3_Silent_p.F931F|KIAA1432_ENST00000381532.2_Silent_p.F931F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2						45		Acute lymphoblastic leukemia(23;0.154)			GATTTGAGTTCTTCAGGAATC	0.433000																								0							SO:0001819	synonymous_variant			ENST00000414202.2	1	1	hg19	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173584	0.21704	.	.	ENSG00000107036	ENST00000545641	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-18.4469	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	F	902	.	.	L	+	1	0	KIAA1432	5755691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.004000	0.49513	2.873000	0.98535	0.563000	0.77884	CTT		TCGA-IB-A6UG-01A-32D-A33T-08	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3	1	0	0	98	859	0	178	1	6.977822e-01	3	20	0	178	2		0	0	0	0	0	2	1	1.000000	97	849	0	178	2		0	0	0	0	178	2	-20.000000	1	1	0	0		1	0	3	3	1.930506	1	0.220000	3.280000	0.296600	0.990000	0.840000	1.000000	1.000000	0.976912	0.990000	1	9.300000e-01	1
PTPRD	5789	broad.mit.edu	37	9	8518207	8518207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:8518207G>A	ENST00000381196.4	-	18	1727	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V	PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D			168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)			GTTATTGACAGCAACAACCCT	0.527000										TSP Lung(15;0.13)														0							SO:0001583	missense			ENST00000381196.4	0	1	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814087	0.70912	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	H	0.96239	3.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.996;0.994;0.969;0.999;0.946	D	0.92021	0.5626	9	.	.	.	.	18.6464	0.91411	0.0:0.0:1.0:0.0	.	385;389;395;395;392;392;382;395;395	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	395;395;382;382;395;385;392;392;395;395;395;385	ENSP00000370593:A395V;ENSP00000348812:A395V;ENSP00000353187:A382V;ENSP00000351293:A382V;ENSP00000347373:A395V;ENSP00000380741:A385V;ENSP00000380735:A392V;ENSP00000440515:A392V;ENSP00000438164:A395V;ENSP00000417093:A395V;ENSP00000380731:A385V	.	A	-	2	0	PTPRD	8508207	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.807000	0.99171	2.392000	0.81423	0.460000	0.39030	GCT		TCGA-IB-A6UG-01A-32D-A33T-08	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	0	0	0	6	779	0	121	0	0	0	1	0	121	2		0	0	0	0	0	2	1	0.963779	6	770	0	121	2		0	0	0	0	121	2	-2.195254	0	1	0	0		1	0	3	3	1.930506	1	0.220000	3.280000	0.296600	0.080000	0.020000	0.170000	0.090000	0.089430	0.080000	0	4.000000e-02	1.200000e-01
SHROOM4	57477	broad.mit.edu	37	X	50376908	50376908	+	Missense_Mutation	SNP	C	C	T	rs3761506	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:50376908C>T	ENST00000289292.7	-	4	2448	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R606H|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R722H			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				ATGACCTCCACGGACTCCACA	0.557000																								0							SO:0001583	missense			ENST00000289292.7	1	0	hg19	CCDS35277.1	9	0.0054249547920434	0	0.0	0	0.0	9	0.01584507042253521	0	0.0	C	0.008	-1.928348	0.00493	0.001304	0.0	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88046	-2.33;-2.33;-2.33	5.52	-2.07	0.07276	.	2.325820	0.00911	N	0.002463	T	0.65647	0.2711	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.60016	-0.7345	10	0.13470	T	0.59	.	6.0462	0.19762	0.1932:0.4336:0.0:0.3732	rs3761506;rs52829651;rs3761506	722	Q9ULL8	SHRM4_HUMAN	H	722;722;606	ENSP00000289292:R722H;ENSP00000365188:R722H;ENSP00000421450:R606H	ENSP00000289292:R722H	R	-	2	0	SHROOM4	50393648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.524000	0.06222	-1.613000	0.01577	-3.241000	0.00051	CGT		TCGA-IB-A6UG-01A-32D-A33T-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	29	94	0	34	0	1.473866e-01	0	3	0	34	2		0	0	0	0	0	2	1	1.000000	29	91	0	33	2		0	0	0	0	34	2	-2.785289	1	1	121410	153	51	1	0	1	1			0.220000	3.280000	0.220000	0.900000	0.690000	1.000000	0.990000	0.895021	0.900000	1	8.000000e-01	9.800000e-01
