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
ITPR2	3709	broad.mit.edu	37	12	26816711	26816712	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:26816711_26816712delAT	ENST00000381340.3	-	15	2035_2036	c.1619_1620delAT	c.(1618-1620)gatfs	p.D540fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2		ETV6/ITPR2(2)	125	Colorectal(261;0.0847)			Caffeine(DB00201)	GATCCCCCAGATCTTCAAGTCT	0.460000																								0							SO:0001589	frameshift_variant			ENST00000381340.3	1	1	hg19	CCDS41764.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	0	379	1196	0	306	0	1.463883e-01	0	3	0	306	2			0	0	0	0		1	1.000000	386	1184	0	302	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	2	2	1.831904	1	0.570000	1.800000	0.570000	0.850000	7.600000e-01	1.000000	0.840000	0.880003	0.850000	1	8.000000e-01	1
TP53	7157	broad.mit.edu	37	17	7578180	7578190	+	Frame_Shift_Del	DEL	AGGCGGCTCAT	AGGCGGCTCAT	-	rs121912666		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			AGGCGGCTCAT	-	AGGCGGCTCAT	AGGCGGCTCAT		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:7578180_7578190delAGGCGGCTCAT	ENST00000269305.4	-	6	848_858	c.659_669delATGAGCCGCCT	c.(658-669)tatgagccgcctfs	p.YEPP220fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.YEPP220fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.YEPP220fs	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.Y220C(278)|p.Y127C(24)|p.E221*(14)|p.Y220S(12)|p.?(12)|p.0?(8)|p.P222P(5)|p.P222L(5)|p.P223P(4)|p.P223L(4)|p.E128*(3)|p.Y220*(3)|p.P223fs*1(3)|p.E221fs*4(3)|p.P222T(3)|p.E221E(2)|p.E221G(2)|p.E221fs*26(2)|p.P223H(2)|p.E221D(2)|p.P222S(2)|p.E221K(2)|p.P223R(1)|p.P223S(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)|p.Y127S(1)|p.Y220_P223delYEPP(1)|p.P222Q(1)|p.P130fs*1(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)|p.D208fs*1(1)|p.E221fs*2(1)|p.Y220fs*25(1)|p.V218_E221delVPYE(1)|p.P222A(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*25(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ACCAGACCTCAGGCGGCTCATAGGGCACCAC	0.550000		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	418	Substitution - Missense(342)|Substitution - Nonsense(20)|Deletion - Frameshift(15)|Unknown(12)|Substitution - coding silent(11)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(5)	GRCh37	CM015378|CM951227	TP53	M	rs121912666	SO:0001589	frameshift_variant	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	17	103	0	33	0	4.418144e-01	0	10	0	33	2	1	1	204	671	0	874	2	1	0.853362	28	114	1	33	15	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.568350	1	0.570000	1.800000	0.398601	0.350000	2.100000e-01	0.520000	0.350000	0.365529	0.350000	0	2.800000e-01	4.400000e-01
GPAM	57678	broad.mit.edu	37	10	113932067	113932067	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:113932067G>A	ENST00000348367.4	-	9	864	c.667C>T	c.(667-669)Ccg>Tcg	p.P223S	GPAM_ENST00000423155.1_Missense_Mutation_p.P223S|GPAM_ENST00000369425.1_Missense_Mutation_p.P223S			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial			31					AACAGAAGCGGCAAATTCGTC	0.383000													Ovarian(161;1017 2606 18293 52943)											0							SO:0001583	missense			ENST00000348367.4	0	1	hg19	CCDS7570.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994071	0.93167	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	D;D;D	0.93811	-3.29;-3.29;-3.29	5.77	5.77	0.91146	Phospholipid/glycerol acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93359	0.6725	10	0.27785	T	0.31	-20.7866	18.2424	0.89971	0.0:0.0:1.0:0.0	.	223;223	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	S	223	ENSP00000265276:P223S;ENSP00000409242:P223S;ENSP00000358433:P223S	ENSP00000265276:P223S	P	-	1	0	GPAM	113922057	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.414000	0.97362	2.730000	0.93505	0.650000	0.86243	CCG		TCGA-F2-A8YN-01A-11D-A377-08	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050377.1	0	0	0	5	265	0	67	0	1.663804e-03	0	3	0	67	2		0	0	0	0	0	2	1	0.936269	5	262	0	66	2		0	0	0	0	67	2	-2.943335	1	1	0	0		1	1	2	3	2.160328	0	0.570000	1.800000	0.574847	0.070000	2.000000e-02	1.000000	0.060000	0.104601	0.070000	0	4.000000e-02	1.100000e-01
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15			26					TTTTTGAAGCGCAAAAACCCA	0.453000																								0							SO:0001583	missense			ENST00000346248.5	0	1	hg19	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		TCGA-F2-A8YN-01A-11D-A377-08	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	0	0	0	5	479	0	101	0	1.286366e-01	0	49	0	101	2		0	0	0	0	0	2	1	0.933630	5	467	0	101	2		0	0	0	0	101	2	-2.460406	0	1	121412	10	43	1	1	2	3	2.145887	0	0.570000	1.800000	0.572437	0.030000	0	0.090000	0.040000	0.052544	0.030000	0	1.000000e-02	6.000000e-02
GPR123	84435	broad.mit.edu	37	10	134884542	134884542	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr10:134884542G>A	ENST00000607359.1	+	1	110	c.110G>A	c.(109-111)cGg>cAg	p.R37Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123			14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)			CGAGGGGGCCGGACACCACAG	0.657000																								0							SO:0001583	missense			ENST00000607359.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	1.282	-0.610161	0.03690	3.2E-4	0.0	ENSG00000197177	ENST00000368577;ENST00000392609	.	.	.	1.69	-3.13	0.05266	.	.	.	.	.	T	0.19644	0.0472	.	.	.	.	.	.	B	0.10296	0.003	B	0.01281	0.0	T	0.30794	-0.9966	6	0.87932	D	0	.	0.0954	0.00043	0.244:0.2044:0.2626:0.289	.	37	Q86SQ6-1	.	Q	37	.	ENSP00000357566:R37Q	R	+	2	0	GPR123	134734532	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.884000	0.04166	-0.645000	0.05458	-0.657000	0.03884	CGG		TCGA-F2-A8YN-01A-11D-A377-08	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316904.2	0	0	0	4	200	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	0.888885	4	198	0	20	2		0	0	0	0	21	2	-5.691391	1	1	118850	3	37	1	1	2	3	2.145887	0	0.570000	1.800000	0.572437	0.070000	2.000000e-02	0.190000	0.070000	0.094266	0.070000	0	4.000000e-02	1.200000e-01
TMEM45B	120224	broad.mit.edu	37	11	129722430	129722430	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:129722430G>A	ENST00000524567.1	+	2	334	c.53G>A	c.(52-54)gGg>gAg	p.G18E	TMEM45B_ENST00000281441.3_Missense_Mutation_p.G18E			Q96B21	TM45B_HUMAN	transmembrane protein 45B			12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)			CTGATCATTGGGCTGTGTTGG	0.507000																								0							SO:0001583	missense			ENST00000524567.1	1	1	hg19	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632180	0.87660	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.61980	0.06;0.06	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83571	0.5283	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86602	0.1867	10	0.87932	D	0	-16.7256	18.2812	0.90098	0.0:0.0:1.0:0.0	.	18	Q96B21	TM45B_HUMAN	E	18	ENSP00000281441:G18E;ENSP00000436293:G18E	ENSP00000281441:G18E	G	+	2	0	TMEM45B	129227640	1.000000	0.71417	0.823000	0.32752	0.573000	0.36030	9.317000	0.96327	2.653000	0.90120	0.655000	0.94253	GGG		TCGA-F2-A8YN-01A-11D-A377-08	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	1	0	1	146	359	0	68	1	1	80	127	0	68	2		0	0	0	0	0	2	1	1.000000	145	354	0	68	2		0	0	0	0	68	2	-9.143872	1	1	0	0		1	0	0	0	2.115968	0	0.570000	1.800000	0.570000	0.990000	8.700000e-01	1.000000	1.000000	0.978987	0.990000	1	9.300000e-01	1
LGR4	55366	broad.mit.edu	37	11	27389696	27389696	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:27389696G>A	ENST00000379214.4	-	18	3017	c.2574C>T	c.(2572-2574)tgC>tgT	p.C858C	LGR4_ENST00000389858.4_Silent_p.C834C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	p.C858C(1)		32					CGCAGCAGTCGCAAACAGTCA	0.458000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000379214.4	0	1	hg19	CCDS31449.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	0	0	0	6	830	0	196	0	1.078171e-01	0	65	0	196	2		0	0	0	0	0	2	1	0.963846	6	822	0	194	2		0	0	0	0	196	2	-2.033128	0	1	0	0		1	1	2	3	2.130168	0	0.570000	1.800000	0.571222	0.020000	0	0.060000	0.020000	0.028207	0.020000	0	0	4.000000e-02
SLC22A10	387775	broad.mit.edu	37	11	63057849	63057849	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:63057849C>T	ENST00000332793.6	+	1	214	c.212C>T	c.(211-213)gCc>gTc	p.A71V	SLC22A10_ENST00000526800.1_Missense_Mutation_p.A19V|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10			28				Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AGTGAAGATGCCCTCTTGAGA	0.493000																								0							SO:0001583	missense			ENST00000332793.6	0	1	hg19	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	5.138	0.211114	0.09757	.	.	ENSG00000184999	ENST00000332793;ENST00000526800	T;T	0.66815	2.48;-0.23	2.89	-0.723	0.11181	.	1.274800	0.05599	N	0.575951	T	0.53465	0.1798	L	0.41710	1.295	0.09310	N	1	B;B	0.19706	0.009;0.038	B;B	0.19946	0.012;0.027	T	0.29701	-1.0003	10	0.30078	T	0.28	.	4.2839	0.10846	0.4005:0.4704:0.0:0.1291	.	19;71	E9PJB1;Q63ZE4	.;S22AA_HUMAN	V	71;19	ENSP00000327569:A71V;ENSP00000433908:A19V	ENSP00000327569:A71V	A	+	2	0	SLC22A10	62814425	0.005000	0.15991	0.185000	0.23176	0.176000	0.22953	-0.169000	0.09911	-0.259000	0.09432	0.579000	0.79373	GCC		TCGA-F2-A8YN-01A-11D-A377-08	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	0	0	0	5	428	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	0.936349	5	424	0	82	2		0	0	0	0	83	2	-2.287875	0	1	121408	1	38	1	1	2	3	2.130168	0	0.570000	1.800000	0.571222	0.040000	0	0.100000	0.040000	0.048266	0.040000	0	2.000000e-02	7.000000e-02
GPR137	56834	broad.mit.edu	37	11	64054047	64054047	+	Silent	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:64054047G>C	ENST00000313074.3	+	1	156	c.51G>C	c.(49-51)gcG>gcC	p.A17A	GPR137_ENST00000438980.2_Silent_p.A17A|BAD_ENST00000309032.3_5'Flank|GPR137_ENST00000411458.1_Silent_p.A75A|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000377702.4_Silent_p.A17A|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000539851.1_Silent_p.A17A	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137			10					TGGTGCCTGCGCTGCCACCTG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000313074.3	0	1	hg19	CCDS8066.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	0	0	0	5	381	0	55	0	1.801997e-01	0	49	0	55	2		0	0	0	0	0	2	1	0.936642	5	378	0	53	2		0	0	0	0	55	2	-3.148492	1	1	0	0		1	1	2	3	2.130168	0	0.570000	1.800000	0.571222	0.040000	0	0.110000	0.040000	0.054217	0.040000	0	2.000000e-02	8.000000e-02
SYT9	143425	broad.mit.edu	37	11	7437383	7437383	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:7437383A>G	ENST00000318881.6	+	4	1392	c.1155A>G	c.(1153-1155)acA>acG	p.T385T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX			38					TGGACATAACAGGAGCATCAG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000318881.6	1	1	hg19	CCDS7778.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	1	0	1	67	301	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	1.000000	66	300	0	82	2		0	0	0	0	82	2	-20.000000	1	1	0	0		1	1	2	3	2.130168	0	0.570000	1.800000	0.571222	0.630000	5.000000e-01	0.790000	0.640000	0.645377	0.630000	0	5.600000e-01	7.200000e-01
DENND5A	23258	broad.mit.edu	37	11	9187392	9187392	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr11:9187392G>A	ENST00000328194.3	-	11	2594	c.2274C>T	c.(2272-2274)tgC>tgT	p.C758C	DENND5A_ENST00000527700.1_Silent_p.C101C|DENND5A_ENST00000530044.1_Silent_p.C758C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A			39					CCTTATTGCGGCATTCCTTCA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000328194.3	0	1	hg19	CCDS31423.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	0	0	0	5	484	0	72	0	8.364080e-02	0	38	0	72	2		0	0	0	0	0	2	1	0.936144	6	479	0	71	2		0	0	0	0	72	2	-1.755958	0	1	0	0		1	1	2	3	2.130168	0	0.570000	1.800000	0.571222	0.030000	0	0.090000	0.040000	0.042593	0.030000	0	1.000000e-02	6.000000e-02
ALDH1L2	160428	broad.mit.edu	37	12	105464556	105464556	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:105464556G>A	ENST00000258494.9	-	3	360	c.220C>T	c.(220-222)Cct>Tct	p.P74S	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P74S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2			35					TTGAACACAGGGGTCCCATCT	0.413000																								0							SO:0001583	missense			ENST00000258494.9	1	1	hg19	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066278	0.93898	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80738	-1.41;-1.41	5.48	5.48	0.80851	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91375	0.7279	M	0.89287	3.02	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.92391	0.5921	10	0.87932	D	0	.	19.7157	0.96119	0.0:0.0:1.0:0.0	.	74	Q3SY69	AL1L2_HUMAN	S	74	ENSP00000258494:P74S;ENSP00000389608:P74S	ENSP00000258494:P74S	P	-	1	0	ALDH1L2	103988686	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	7.782000	0.85680	2.749000	0.94314	0.655000	0.94253	CCT		TCGA-F2-A8YN-01A-11D-A377-08	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	1	0	1	116	201	0	76	0	3.054641e-01	0	3	0	76	2		0	0	0	0	0	2	1	1.000000	115	199	0	73	2		0	0	0	0	76	2	-14.061870	1	1	0	0		1	0	2	2	1.832909	1	0.570000	1.800000	0.570000	0.990000	9.900000e-01	1.000000	1.000000	0.999983	0.990000	1	9.900000e-01	1
TAS2R8	50836	broad.mit.edu	37	12	10959184	10959184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:10959184C>T	ENST00000240615.2	-	1	708	c.396G>A	c.(394-396)tgG>tgA	p.W132*		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8			14					CCAGCAGGATCCAGTGCACCA	0.413000																								0							SO:0001587	stop_gained			ENST00000240615.2	0	1	hg19	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342008	0.95783	.	.	ENSG00000121314	ENST00000240615	.	.	.	4.47	0.811	0.18739	.	0.924044	0.08834	U	0.886839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.9053	0.13795	0.1496:0.6025:0.147:0.1009	.	.	.	.	X	132	.	ENSP00000240615:W132X	W	-	3	0	TAS2R8	10850451	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-0.151000	0.10175	0.280000	0.22209	0.557000	0.71058	TGG		TCGA-F2-A8YN-01A-11D-A377-08	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1	1	0	0	12	227	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	0.999164	12	226	0	110	2		0	0	0	0	111	2	-14.456550	1	1	0	0		1	0	2	2	1.831904	1	0.570000	1.800000	0.570000	0.190000	9.000000e-02	1.000000	0.180000	0.371560	0.190000	0	1.400000e-01	1
GRIN2B	2904	broad.mit.edu	37	12	13716777	13716777	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:13716777A>T	ENST00000609686.1	-	13	3604	c.3395T>A	c.(3394-3396)tTc>tAc	p.F1132Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B			143				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCCAGGTAGAAGTCCCGTAG	0.597000																								0							SO:0001583	missense			ENST00000609686.1	0	1	hg19	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	18.66	3.671252	0.67814	.	.	ENSG00000150086	ENST00000279593	T	0.20463	2.07	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44265	0.1285	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.23619	-1.0183	10	0.35671	T	0.21	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	1132	Q13224	NMDE2_HUMAN	Y	1132	ENSP00000279593:F1132Y	ENSP00000279593:F1132Y	F	-	2	0	GRIN2B	13608044	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.869000	0.92326	2.099000	0.63709	0.533000	0.62120	TTC		TCGA-F2-A8YN-01A-11D-A377-08	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2	0	0	0	6	185	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.964562	6	183	0	35	2		0	0	0	0	35	2	-8.555849	1	1	0	0		1	0	2	2	1.831904	1	0.570000	1.800000	0.570000	0.130000	4.000000e-02	1.000000	0.110000	0.323603	0.130000	0	8.000000e-02	1
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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-F2-A8YN-01A-11D-A377-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	72	132	0	53	1	9.999185e-01	26	4	0	53	2	1	1	76	171	0	309	2	1	1.000000	69	131	0	53	2	1	1	2839	5174	0	53	2	-20.000000	1	1	0	0		1	0	2	2	1.831904	1	0.570000	1.800000	0.570000	0.990000	9.900000e-01	1.000000	1.000000	0.999472	0.990000	1	9.900000e-01	1
NALCN	259232	broad.mit.edu	37	13	101736104	101736104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:101736104G>A	ENST00000251127.6	-	31	3622	c.3541C>T	c.(3541-3543)Cga>Tga	p.R1181*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective			177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)				ATCTTCAGTCGGCTCTTCAGG	0.512000																								0							SO:0001587	stop_gained			ENST00000251127.6	0	1	hg19	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	41	9.100694	0.99066	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.2	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6363	0.56685	0.0:0.0:0.5839:0.4161	.	.	.	.	X	1181	.	ENSP00000251127:R1181X	R	-	1	2	NALCN	100534105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.610000	0.36869	0.389000	0.25086	0.650000	0.86243	CGA		TCGA-F2-A8YN-01A-11D-A377-08	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	1	0	1	54	159	0	29	0	8.448390e-01	0	12	0	29	2		0	0	0	0	0	2	1	1.000000	52	155	0	29	2		0	0	0	0	29	2	-4.672652	1	1	0	0		1	1	2	3	2.164290	0	0.570000	1.800000	0.574847	0.900000	7.000000e-01	1.000000	1.000000	0.896669	0.900000	1	7.900000e-01	1
ATP12A	479	broad.mit.edu	37	13	25255720	25255720	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:25255720C>T	ENST00000381946.3	+	2	197	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ATP12A_ENST00000218548.6_Silent_p.S10S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide			74		Lung SC(185;0.0225)|Breast(139;0.077)			AAATTTACTCCGTGGAGCTCA	0.522000													Pancreas(156;1582 1935 18898 22665 26498)											0							SO:0001819	synonymous_variant			ENST00000381946.3	1	1	hg19	CCDS31948.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	1	0	1	91	245	0	53		0	0	0	0	53	2	0	0	0	1	0	0	2	1	1.000000	89	243	0	53	2		0	0	0	0	53	2	-5.806668	1	1	0	0		1	0	0	0	2.106250	0	0.570000	1.800000	0.567535	0.930000	7.800000e-01	1.000000	1.000000	0.933399	0.930000	1	8.500000e-01	1
TRPC4	7223	broad.mit.edu	37	13	38211315	38211315	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr13:38211315C>G	ENST00000379705.3	-	11	3516	c.2659G>C	c.(2659-2661)Gaa>Caa	p.E887Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.E746Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.E746Q|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.E714Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.E738Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.E892Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.E714Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.E803Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4			83					CCTCGAGATTCCAGTTGAATA	0.458000																								0							SO:0001583	missense			ENST00000379705.3	1	1	hg19	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764029	0.69878	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.75938	-0.47;-0.47;-0.29;-0.29;-0.65;-0.63;-0.98;-0.65	5.3	5.3	0.74995	.	2.243490	0.01788	N	0.032140	T	0.81654	0.4868	N	0.19112	0.55	0.80722	D	1	B;D;P;B;D;B	0.69078	0.435;0.989;0.908;0.264;0.997;0.013	B;D;D;B;D;B	0.78314	0.093;0.979;0.922;0.082;0.991;0.005	T	0.67526	-0.5648	10	0.59425	D	0.04	-18.9881	14.8849	0.70560	0.0:0.8568:0.1431:0.0	.	746;738;892;714;803;887	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Q	887;892;714;714;746;803;738;746	ENSP00000369027:E887Q;ENSP00000369003:E892Q;ENSP00000342580:E714Q;ENSP00000369001:E714Q;ENSP00000348025:E746Q;ENSP00000351264:E803Q;ENSP00000368995:E738Q;ENSP00000414316:E746Q	ENSP00000342580:E714Q	E	-	1	0	TRPC4	37109315	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	4.328000	0.59253	2.618000	0.88619	0.563000	0.77884	GAA		TCGA-F2-A8YN-01A-11D-A377-08	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	1	0	1	96	278	0	101	0	1.652689e-01	0	3	0	101	2		0	0	0	0	0	2	1	1.000000	96	273	0	101	2		0	0	0	0	101	2	-20.000000	1	1	0	0		1	0	0	0	2.106250	0	0.570000	1.800000	0.567535	0.890000	7.400000e-01	1.000000	1.000000	0.894230	0.890000	1	8.100000e-01	9.700000e-01
OR11H12	440153	broad.mit.edu	37	14	19377838	19377838	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:19377838C>A	ENST00000550708.1	+	1	317	c.245C>A	c.(244-246)tCc>tAc	p.S82Y		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	p.S82F(1)		22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)		GGAAATTTCTCCTTTTTAGAG	0.423000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000550708.1	1	1	hg19	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.05	1.243398	0.22796	.	.	ENSG00000257115	ENST00000550708	T	0.12361	2.69	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.171384	0.27447	N	0.019339	T	0.48572	0.1507	H	0.98936	4.375	0.24804	N	0.992688	D	0.89917	1.0	D	0.83275	0.996	T	0.63541	-0.6614	9	0.87932	D	0	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	82	B2RN74	O11HC_HUMAN	Y	82	ENSP00000449002:S82Y	ENSP00000449002:S82Y	S	+	2	0	CR383656.1	18447838	0.178000	0.23122	0.997000	0.53966	0.280000	0.26924	1.272000	0.33109	0.619000	0.30197	0.064000	0.15345	TCC		TCGA-F2-A8YN-01A-11D-A377-08	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	1	0	0	181	532	2	181		0	0	0	2	181	2		0	0	0	0	0	2	1	1.000000	138	385	2	346	10		0	0	0	2	181	2	-6.986018	1	1	0	0		1						0.570000	1.800000									0	0
SLC22A17	51310	broad.mit.edu	37	14	23816760	23816760	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:23816760G>A	ENST00000206544.8	-	7	1461	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.T375T|SLC22A17_ENST00000354772.3_Silent_p.T375T|SLC22A17_ENST00000397260.3_Silent_p.T264T	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17			15	all_cancers(95;7.12e-06)				AAGCAATGCCGGTAAGGGTCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000206544.8	0	1	hg19	CCDS9593.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157223.3	0	0	0	4	181	0	32	0	1.146921e-01	0	21	0	32	2		0	0	0	0	0	2	1	0.887395	4	178	0	32	2		0	0	0	0	32	2	-3.479808	1	1	121412	4	36	1	0	0	0	2.124084	0	0.570000	1.800000	0.570000	0.080000	2.000000e-02	0.180000	0.080000	0.093399	0.080000	0	4.000000e-02	1.300000e-01
NYNRIN	57523	broad.mit.edu	37	14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing			56					GATGAGCAGCGCAAACATTGA	0.617000																								0							SO:0001583	missense			ENST00000382554.3	0	1	hg19	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640226	0.67244	.	.	ENSG00000205978	ENST00000382554	T	0.10192	2.9	5.08	5.08	0.68730	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.22842	N	0.998664	D	0.89917	1.0	D	0.76575	0.988	T	0.11036	-1.0604	9	0.46703	T	0.11	.	13.8328	0.63391	0.0:0.0:1.0:0.0	.	1779	Q9P2P1	NYNRI_HUMAN	T	1779	ENSP00000371994:A1779T	ENSP00000371994:A1779T	A	+	1	0	NYNRIN	23956130	0.890000	0.30428	0.748000	0.31131	0.644000	0.38419	1.278000	0.33179	2.640000	0.89533	0.655000	0.94253	GCA		TCGA-F2-A8YN-01A-11D-A377-08	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	0	0	0	5	339	0	47	0	4.515580e-01	0	92	0	47	2		0	0	0	0	0	2	1	0.936051	5	335	0	45	2		0	0	0	0	47	2	-3.173342	1	1	121008	7	39	1	0	0	0	2.124084	0	0.570000	1.800000	0.570000	0.050000	1.000000e-02	0.110000	0.060000	0.060654	0.050000	0	3.000000e-02	8.000000e-02
CFL2	1073	broad.mit.edu	37	14	35182567	35182567	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:35182567G>A	ENST00000341223.3	-	2	355	c.204C>T	c.(202-204)taC>taT	p.Y68Y	CFL2_ENST00000555765.1_Silent_p.Y51Y|CFL2_ENST00000556161.1_Silent_p.Y51Y|CFL2_ENST00000298159.6_Silent_p.Y68Y	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)			8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)		CAAAAGATGTGTAGGGGTCCT	0.398000																								0							SO:0001819	synonymous_variant			ENST00000341223.3	0	1	hg19	CCDS9650.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	0	0	0	8	622	0	132	0	1.784049e-02	0	14	0	132	2		0	0	0	0	0	2	1	0.988792	7	614	0	131	2		0	0	0	0	132	2	-3.076856	1	1	0	0		1	0	0	0	2.124084	0	0.570000	1.800000	0.570000	0.040000	1.000000e-02	0.090000	0.040000	0.050031	0.040000	0	2.000000e-02	7.000000e-02
ZFP36L1	677	broad.mit.edu	37	14	69256429	69256429	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr14:69256429G>A	ENST00000439696.2	-	2	1139	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R280W	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1			21					GACATGGGCCGGAAGAGGAAG	0.632000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000439696.2	0	1	hg19	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065008	0.55432	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.36157	1.27;1.27	4.38	2.55	0.30701	.	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.38045	-0.9679	10	0.39692	T	0.17	-6.8806	5.803	0.18424	0.1757:0.0:0.6325:0.1918	.	280	Q07352	TISB_HUMAN	W	280;280;263	ENSP00000388402:R280W;ENSP00000337386:R280W	ENSP00000337386:R280W	R	-	1	2	ZFP36L1	68326182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.012000	0.49575	0.487000	0.27698	0.591000	0.81541	CGG		TCGA-F2-A8YN-01A-11D-A377-08	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1	0	0	0	6	577	0	111	0	9.637938e-01	1	576	0	111	2		0	0	0	0	0	2	1	0.961376	6	558	0	109	2		0	0	0	0	111	2	-2.038417	0	1	0	0		1	0	0	0	2.124084	0	0.570000	1.800000	0.570000	0.030000	0	0.080000	0.040000	0.041673	0.030000	0	1.000000e-02	6.000000e-02
ATP10A	57194	broad.mit.edu	37	15	25947218	25947218	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:25947218C>G	ENST00000356865.6	-	13	2716	c.2605G>C	c.(2605-2607)Gac>Cac	p.D869H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A			103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)			GGGACTCCGTCCTGCAGGCGG	0.527000																								0							SO:0001583	missense			ENST00000356865.6	1	1	hg19	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783540	0.90282	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	5.31	5.31	0.75309	HAD-like domain (2);	0.273464	0.45867	D	0.000325	D	0.83422	0.5251	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	D	0.86242	0.1644	10	0.87932	D	0	-8.5174	18.9799	0.92751	0.0:1.0:0.0:0.0	.	869	O60312	AT10A_HUMAN	H	869	ENSP00000349325:D869H	ENSP00000349325:D869H	D	-	1	0	ATP10A	23498311	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	7.561000	0.82288	2.485000	0.83878	0.561000	0.74099	GAC		TCGA-F2-A8YN-01A-11D-A377-08	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	0	16	362	0	75	0	9.963460e-02	0	12	0	75	2		0	0	0	0	0	2	1	0.999931	15	359	0	75	2		0	0	0	0	75	2	-16.394990	1	1	121412	1	31	1	0	0	0	1.960555	0	0.570000	1.800000	0.535587	0.130000	7.000000e-02	0.210000	0.140000	0.145005	0.130000	0	1.000000e-01	1.800000e-01
ONECUT1	3175	broad.mit.edu	37	15	53081647	53081647	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:53081647C>T	ENST00000305901.5	-	1	562	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1			17					AGCTACCGCTCACGTTGCCCG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000305901.5	1	1	hg19	CCDS10150.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2	1	0	0	30	171	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1.000000	30	170	0	41	2		0	0	0	0	41	2	-20.000000	1	1	0	0		1	0	1	1	1.661031	1	0.570000	1.800000	0.468512	0.420000	2.900000e-01	0.570000	0.420000	0.431073	0.420000	0	3.500000e-01	5.000000e-01
HERC1	8925	broad.mit.edu	37	15	64025227	64025227	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr15:64025227C>T	ENST00000443617.2	-	14	2851	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	p.G922*(2)		132					GACAGATTTCCGTAGCCAGTA	0.458000																								2	Substitution - Nonsense(2)						SO:0001583	missense			ENST00000443617.2	1	1	hg19	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217516	0.58560	.	.	ENSG00000103657	ENST00000443617	T	0.22743	1.94	5.67	5.67	0.87782	.	0.312879	0.26400	U	0.024596	T	0.09291	0.0229	N	0.08118	0	0.40185	D	0.97733	P	0.43633	0.813	B	0.27608	0.081	T	0.32508	-0.9904	10	0.16420	T	0.52	.	17.9412	0.89027	0.0:1.0:0.0:0.0	.	922	Q15751	HERC1_HUMAN	R	922	ENSP00000390158:G922R	ENSP00000390158:G922R	G	-	1	0	HERC1	61812280	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	2.592000	0.46171	2.658000	0.90341	0.655000	0.94253	GGA		TCGA-F2-A8YN-01A-11D-A377-08	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	1	0	1	94	179	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	1.000000	92	177	0	41	2		0	0	0	0	41	2	-10.217710	1	1	120858	1	35	1	0	1	1	1.661031	1	0.570000	1.800000	0.468512	0.960000	8.100000e-01	1.000000	1.000000	0.954535	0.960000	1	8.900000e-01	1
RBBP6	5930	broad.mit.edu	37	16	24580170	24580170	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:24580170G>T	ENST00000319715.4	+	17	2591	c.2159G>T	c.(2158-2160)aGc>aTc	p.S720I	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S686I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6			46					CGATCATTCAGCCGCTCACAT	0.438000																								0							SO:0001583	missense			ENST00000319715.4	1	1	hg19	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497395	0.44455	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.25414	1.95;1.8	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	T	0.44603	0.1301	L	0.34521	1.04	0.40089	D	0.976239	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.31724	-0.9933	10	0.72032	D	0.01	-12.372	20.4581	0.99154	0.0:0.0:1.0:0.0	.	686;720	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	720;686	ENSP00000317872:S720I;ENSP00000316291:S686I	ENSP00000317872:S720I	S	+	2	0	RBBP6	24487671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	2.835000	0.97688	0.650000	0.86243	AGC		TCGA-F2-A8YN-01A-11D-A377-08	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	1	0	0	29	458	0	91	0	1.448108e-01	0	11	0	91	2		0	0	0	0	0	2	1	1.000000	29	454	0	90	2		0	0	0	0	91	2	-3.075742	1	1	0	0		1	1	2	3	2.132556	0	0.570000	1.800000	0.571222	0.200000	1.400000e-01	0.300000	0.210000	0.215543	0.200000	0	1.700000e-01	2.500000e-01
KCTD19	146212	broad.mit.edu	37	16	67333359	67333359	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:67333359G>A	ENST00000304372.5	-	6	948	c.893C>T	c.(892-894)cCg>cTg	p.P298L	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19			23		Ovarian(137;0.192)			CGCAGAGTCCGGGTACTTGAC	0.622000																								0							SO:0001583	missense			ENST00000304372.5	1	1	hg19	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044864	0.93685	.	.	ENSG00000168676	ENST00000304372	T	0.63913	-0.07	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000005	T	0.75250	0.3824	L	0.50333	1.59	0.53688	D	0.999976	D	0.89917	1.0	D	0.79108	0.992	T	0.75977	-0.3127	10	0.87932	D	0	-15.5417	17.0645	0.86556	0.0:0.0:1.0:0.0	.	298	Q17RG1	KCD19_HUMAN	L	298	ENSP00000305702:P298L	ENSP00000305702:P298L	P	-	2	0	KCTD19	65890860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.859000	0.69539	2.884000	0.98904	0.655000	0.94253	CCG		TCGA-F2-A8YN-01A-11D-A377-08	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	0	0	1	137	415	1	81		0	0	0	1	81	2		0	0	0	0	0	2	1	1.000000	134	409	1	78	22		0	0	0	1	81	2	-5.025225	1	1	120994	2	36	1	1	2	3	2.128165	0	0.570000	1.800000	0.571222	0.860000	7.400000e-01	1.000000	0.870000	0.874520	0.860000	1	8.000000e-01	9.400000e-01
HYDIN	54768	broad.mit.edu	37	16	71101253	71101253	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr16:71101253G>T	ENST00000393567.2	-	15	2165	c.2015C>A	c.(2014-2016)gCa>gAa	p.A672E	HYDIN_ENST00000288168.10_Missense_Mutation_p.A689E|HYDIN_ENST00000448691.1_Missense_Mutation_p.A672E|HYDIN_ENST00000543639.1_5'Flank|HYDIN_ENST00000541601.1_Missense_Mutation_p.A689E|HYDIN_ENST00000321489.5_Missense_Mutation_p.A672E|HYDIN_ENST00000448089.2_Missense_Mutation_p.A672E|HYDIN_ENST00000393550.2_Missense_Mutation_p.A687E|HYDIN_ENST00000538248.1_Missense_Mutation_p.A699E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	p.A672E(3)		43		Ovarian(137;0.0654)			CACCACGAGTGCCAGCTCGTA	0.532000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000393567.2	1	1	hg19	CCDS59269.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.024197|3.024197	0.54683|0.54683	.|.	.|.	ENSG00000157423|ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550|ENST00000542890	T;T;T;T;T;T;T;T|.	0.06371|.	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.32703|.	U|.	0.005751|.	T|T	0.67822|0.67822	0.2934|0.2934	L|L	0.48642|0.48642	1.525|1.525	0.47994|0.47994	D|D	0.99956|0.99956	P;P;B;P;D|.	0.89917|.	0.875;0.875;0.34;0.875;1.0|.	P;P;B;P;D|.	0.87578|.	0.729;0.729;0.108;0.547;0.998|.	T|T	0.65413|0.65413	-0.6174|-0.6174	10|5	0.06365|.	T|.	0.9|.	.|.	17.1332|17.1332	0.86732|0.86732	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	699;689;689;672;672|.	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23|.	.;.;.;.;.|.	E|N	672;672;672;672;672;699;689;689;687|74	ENSP00000377197:A672E;ENSP00000398544:A672E;ENSP00000394826:A672E;ENSP00000314736:A672E;ENSP00000444970:A699E;ENSP00000437341:A689E;ENSP00000288168:A689E;ENSP00000377181:A687E|.	ENSP00000288168:A689E|.	A|H	-|-	2|1	0|0	HYDIN|HYDIN	69658754|69658754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.864000|0.864000	0.49448|0.49448	6.181000|6.181000	0.71988|0.71988	2.332000|2.332000	0.79248|0.79248	0.603000|0.603000	0.83216|0.83216	GCA|CAC		TCGA-F2-A8YN-01A-11D-A377-08	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3	1	0	1	96	226	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	1.000000	94	222	0	42	2		0	0	0	0	42	2	-20.000000	1	0	0	0		1	1	2	3	2.128165	0	0.570000	1.800000	0.571222	0.990000	8.700000e-01	1.000000	1.000000	0.984429	0.990000	1	9.500000e-01	1
MYH13	8735	broad.mit.edu	37	17	10209864	10209864	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:10209864G>A	ENST00000418404.3	-	36	5541	c.5378C>T	c.(5377-5379)aCg>aTg	p.T1793M	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T1793M			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle			108					GTCCTTCACCGTCTGCTCCAG	0.552000																								0							SO:0001583	missense			ENST00000418404.3	1	1	hg19	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779373	0.70107	.	.	ENSG00000006788	ENST00000252172	T	0.78246	-1.16	4.22	4.22	0.49857	Myosin tail (1);	.	.	.	.	D	0.86648	0.5983	H	0.95850	3.73	0.38306	D	0.943117	B	0.30193	0.272	B	0.39617	0.305	D	0.89946	0.4076	9	0.72032	D	0.01	.	12.7179	0.57125	0.0831:0.0:0.9169:0.0	.	1793	Q9UKX3	MYH13_HUMAN	M	1793	ENSP00000252172:T1793M	ENSP00000252172:T1793M	T	-	2	0	MYH13	10150589	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	6.439000	0.73430	2.347000	0.79759	0.491000	0.48974	ACG		TCGA-F2-A8YN-01A-11D-A377-08	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	1	0	1	210	318	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	207	312	0	100	2		0	0	0	0	101	2	-20.000000	1	1	121412	5	43	1	0	1	1	1.568350	1	0.570000	1.800000	0.398601	0.960000	8.700000e-01	1.000000	0.990000	0.958698	0.960000	1	9.100000e-01	9.900000e-01
KCNJ12	3768	broad.mit.edu	37	17	21319451	21319451	+	Missense_Mutation	SNP	C	C	T	rs144590967	byFrequency	TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:21319451C>T	ENST00000583088.1	+	3	1692	c.797C>T	c.(796-798)tCg>tTg	p.S266L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S266L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12			70				Dofetilide(DB00204)|Yohimbine(DB01392)	TTTCTGGTGTCGCCCATCACC	0.607000										Prostate(3;0.18)														0							SO:0001583	missense			ENST00000583088.1	1	1	hg19	CCDS11219.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.4	4.736363	0.89482	4.54E-4	1.16E-4	ENSG00000184185	ENST00000331718	D	0.90385	-2.66	5.43	5.43	0.79202	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	L	0.45744	1.44	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.93754	0.7061	10	0.56958	D	0.05	.	19.2333	0.93849	0.0:1.0:0.0:0.0	.	266	Q14500	IRK12_HUMAN	L	266	ENSP00000328150:S266L	ENSP00000328150:S266L	S	+	2	0	KCNJ12	21260044	1.000000	0.71417	0.935000	0.37517	0.924000	0.55760	7.680000	0.84062	2.554000	0.86153	0.655000	0.94253	TCG		TCGA-F2-A8YN-01A-11D-A377-08	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	0	0	51	172	0	57	0	5.372110e-02	0	2	0	57	2		0	0	0	0	0	2	1	1.000000	50	161	0	56	2		0	0	0	0	57	2	-20.000000	1	1	121412	14	37	1	0	1	1	1.564479	1	0.570000	1.800000	0.403358	0.570000	4.400000e-01	0.710000	0.580000	0.580567	0.570000	0	5.000000e-01	6.500000e-01
KRT26	353288	broad.mit.edu	37	17	38926251	38926251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:38926251G>A	ENST00000335552.4	-	4	853	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_181539.4	NP_853517.2			keratin 26			16		Breast(137;0.00526)			TTGCGGTTCTGCTCAGCCAAG	0.522000																								0							SO:0001587	stop_gained			ENST00000335552.4	0	1	hg19	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886500	0.91814	.	.	ENSG00000186393	ENST00000335552	.	.	.	5.0	4.01	0.46588	.	0.113960	0.39834	N	0.001254	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2179	0.37360	0.0:0.1394:0.5984:0.2622	.	.	.	.	X	269	.	ENSP00000334798:Q269X	Q	-	1	0	KRT26	36179777	0.996000	0.38824	1.000000	0.80357	0.883000	0.51084	2.338000	0.43957	1.206000	0.43276	0.655000	0.94253	CAG		TCGA-F2-A8YN-01A-11D-A377-08	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	1	0	0	237	343	0	184		0	0	0	0	184	2		0	0	0	0	0	2	1	1.000000	237	337	0	183	2		0	0	0	0	184	2	-20.000000	1	1	0	0		1	0	1	1	1.563752	1	0.570000	1.800000	0.398601	0.970000	8.900000e-01	1.000000	0.990000	0.969975	0.970000	1	9.300000e-01	1
ZZEF1	23140	broad.mit.edu	37	17	3936124	3936124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:3936124G>A	ENST00000381638.2	-	41	6881	c.6757C>T	c.(6757-6759)Cag>Tag	p.Q2253*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1			84					TGTGGTACCTGGGGGAAGCCA	0.537000																								0							SO:0001587	stop_gained			ENST00000381638.2	0	1	hg19	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	37	6.573202	0.97676	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.39	4.34	0.51931	.	0.170785	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-14.6073	12.3702	0.55250	0.0:0.3496:0.6504:0.0	.	.	.	.	X	2253	.	ENSP00000371051:Q2253X	Q	-	1	0	ZZEF1	3882873	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.327000	0.65881	2.683000	0.91414	0.591000	0.81541	CAG		TCGA-F2-A8YN-01A-11D-A377-08	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	0	0	0	4	116	0	19	0	9.155342e-02	0	12	0	19	2		0	0	0	0	0	2	1	0.887646	4	114	0	17	2		0	0	0	0	19	2	-2.960540	1	1	0	0		1	0	1	1	1.568350	1	0.570000	1.800000	0.398601	0.080000	2.000000e-02	0.190000	0.080000	0.101528	0.080000	0	5.000000e-02	1.400000e-01
NPEPPS	9520	broad.mit.edu	37	17	45669380	45669380	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:45669380A>G	ENST00000322157.4	+	11	1556	c.1319A>G	c.(1318-1320)aAa>aGa	p.K440R	NPEPPS_ENST00000530173.1_Missense_Mutation_p.K436R|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.K360R	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive			27					TCATATAGCAAAGGTGCATCT	0.378000																								0							SO:0001583	missense			ENST00000322157.4	0	1	hg19	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.881700	0.91740	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.51	5.51	0.81932	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65261	-0.6211	10	0.87932	D	0	.	15.6257	0.76855	1.0:0.0:0.0:0.0	.	440;436;440	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	R	436;440;427;360;123;137	ENSP00000433287:K436R;ENSP00000320324:K440R;ENSP00000442461:K360R;ENSP00000435639:K123R;ENSP00000435966:K137R	ENSP00000320324:K440R	K	+	2	0	NPEPPS	43024379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.099000	0.63709	0.528000	0.53228	AAA		TCGA-F2-A8YN-01A-11D-A377-08	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	0	0	0	26	146	1	34	0	4.983010e-01	1	16	1	34	3		0	0	0	0	0	2	1	0.976139	17	115	1	46	11		0	0	0	1	34	2	-2.624685	1	1	120856	48	34	1						0.570000	1.800000									0	0
SAMD14	201191	broad.mit.edu	37	17	48191617	48191617	+	Silent	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr17:48191617G>T	ENST00000330175.4	-	8	1193	c.876C>A	c.(874-876)ccC>ccA	p.P292P	SAMD14_ENST00000503131.1_Silent_p.P320P|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14			15					AGGGCCCACTGGGGATCTTGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000330175.4	1	1	hg19	CCDS58562.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	1	0	0	7	155	0	28	0	3.395714e-02	0	6	0	28	2		0	0	0	0	0	2	1	0.980479	7	153	0	27	2		0	0	0	0	28	2	-3.276866	1	1	0	0		1	0	1	1	1.558390	1	0.570000	1.800000	0.400989	0.110000	4.000000e-02	0.210000	0.110000	0.121738	0.110000	0	7.000000e-02	1.600000e-01
L3MBTL4	91133	broad.mit.edu	37	18	5969486	5969486	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr18:5969486C>T	ENST00000284898.6	-	18	1747	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R320Q|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R516Q|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R507Q	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)			39		Colorectal(10;0.0249)			GGGAAGGTCCCGAAAAGGGTG	0.607000													Esophageal Squamous(41;748 902 17366 28959 43175)											0							SO:0001583	missense			ENST00000284898.6	1	1	hg19	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479138	0.63849	2.37E-4	0.0	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.15718	2.4;2.49;2.4;2.49	5.53	2.8	0.32819	.	0.165870	0.39985	N	0.001214	T	0.31263	0.0791	M	0.66939	2.045	0.31034	N	0.717072	D;D	0.76494	0.989;0.999	P;D	0.67382	0.772;0.951	T	0.22312	-1.0220	10	0.20519	T	0.43	.	8.205	0.31449	0.0:0.77:0.0:0.23	.	516;507	Q8NA19;F8W9S8	LMBL4_HUMAN;.	Q	516;507;516;320	ENSP00000382976:R516Q;ENSP00000318543:R507Q;ENSP00000284898:R516Q;ENSP00000444774:R320Q	ENSP00000284898:R516Q	R	-	2	0	L3MBTL4	5959486	0.001000	0.12720	0.480000	0.27341	0.672000	0.39443	0.433000	0.21477	0.301000	0.22738	0.655000	0.94253	CGG		TCGA-F2-A8YN-01A-11D-A377-08	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	1	0	0	18	314	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.999982	18	311	0	37	2		0	0	0	0	39	2	-2.403998	0	1	121118	5	40	1	1	2	3	2.144104	0	0.570000	1.800000	0.572437	0.190000	1.100000e-01	0.310000	0.190000	0.208123	0.190000	0	1.500000e-01	2.500000e-01
CPAMD8	27151	broad.mit.edu	37	19	17010311	17010311	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17010311C>T	ENST00000443236.1	-	37	4995	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					GAGCACTCGGCGTCCAGCCAC	0.577000																								0							SO:0001583	missense			ENST00000443236.1	1	1	hg19	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.367865|4.367865	0.82463|0.82463	2.39E-4|2.39E-4	2.37E-4|2.37E-4	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	2.88|2.88	2.88|2.88	0.33553|0.33553	.|Alpha-macroglobulin, receptor-binding (3);	.|0.000000	.|0.64402	.|U	.|0.000006	T|T	0.75547|0.75547	0.3864|0.3864	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.79198|0.79198	-0.1902|-0.1902	5|9	.|0.66056	.|D	.|0.02	.|.	14.1052|14.1052	0.65085|0.65085	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1608	.|Q8IZJ3	.|CPMD8_HUMAN	T|H	1666|1655	.|.	.|ENSP00000291440:R1655H	A|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16871311|16871311	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	5.548000|5.548000	0.67255|0.67255	1.364000|1.364000	0.46038|0.46038	0.543000|0.543000	0.68304|0.68304	GCC|CGC		TCGA-F2-A8YN-01A-11D-A377-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	71	196	0	31	0	0	0	1	0	31	2		0	0	0	0	0	2	1	1.000000	71	193	0	31	2		0	0	0	0	31	2	-3.076006	1	1	121006	18	44	1	1	2	3	2.129852	0	0.570000	1.800000	0.571222	0.930000	7.500000e-01	1.000000	1.000000	0.923825	0.930000	1	8.300000e-01	1
CPAMD8	27151	broad.mit.edu	37	19	17057923	17057923	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:17057923C>T	ENST00000443236.1	-	21	2795	c.2764G>A	c.(2764-2766)Gtt>Att	p.V922I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8			82					AAGGACAGAACGACCCAGATG	0.597000																								0							SO:0001583	missense			ENST00000443236.1	1	1	hg19	CCDS42519.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	11.25	1.582552	0.28180	.	.	ENSG00000160111	ENST00000291440	.	.	.	3.46	1.2	0.21068	.	0.085942	0.47093	N	0.000245	T	0.26629	0.0651	L	0.48877	1.53	0.80722	D	1	P	0.44429	0.835	B	0.25405	0.06	T	0.13124	-1.0521	9	0.17369	T	0.5	.	7.8366	0.29374	0.0:0.7433:0.1633:0.0935	.	875	Q8IZJ3	CPMD8_HUMAN	I	922	.	ENSP00000291440:V922I	V	-	1	0	CPAMD8	16918923	0.997000	0.39634	0.018000	0.16275	0.076000	0.17211	4.779000	0.62375	0.036000	0.15547	0.491000	0.48974	GTT		TCGA-F2-A8YN-01A-11D-A377-08	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	1	0	1	239	517	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	230	508	0	92	2		0	0	0	0	95	2	-20.000000	1	1	120904	7	43	1	1	2	3	2.129852	0	0.570000	1.800000	0.571222	0.990000	9.900000e-01	1.000000	1.000000	0.999392	0.990000	1	9.900000e-01	1
ZNF536	9745	broad.mit.edu	37	19	30935392	30935392	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:30935392C>T	ENST00000355537.3	+	2	1070	c.923C>T	c.(922-924)gCg>gTg	p.A308V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				TGCGACTTCGCGGCTTCGCAG	0.642000																								0							SO:0001583	missense			ENST00000355537.3	0	1	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675111	0.47781	.	.	ENSG00000198597	ENST00000355537	T	0.29142	1.58	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.35644	1.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.43442	-0.9391	10	0.56958	D	0.05	-25.2974	19.5661	0.95393	0.0:1.0:0.0:0.0	.	308;308	A7E228;O15090	.;ZN536_HUMAN	V	308	ENSP00000347730:A308V	ENSP00000347730:A308V	A	+	2	0	ZNF536	35627232	1.000000	0.71417	0.962000	0.40283	0.740000	0.42216	7.788000	0.85771	2.631000	0.89168	0.491000	0.48974	GCG		TCGA-F2-A8YN-01A-11D-A377-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	0	0	0	5	640	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	0.935689	5	632	0	102	2		0	0	0	0	104	2	-2.504271	1	1	0	0		1	1	2	3	2.129852	0	0.570000	1.800000	0.571222	0.020000	0	0.070000	0.020000	0.031809	0.020000	0	1.000000e-02	5.000000e-02
CYP2A7	1549	broad.mit.edu	37	19	41383142	41383142	+	Missense_Mutation	SNP	G	G	A	rs151290022		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr19:41383142G>A	ENST00000301146.4	-	7	1655	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.R321C	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7			27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		TTAACCCTGCGGGCCAAACTC	0.547000																								0							SO:0001583	missense			ENST00000301146.4	1	1	hg19	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813432	0.50527	2.27E-4	0.0	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.81078	-1.45;-1.45	2.29	2.29	0.28610	.	0.199062	0.42821	U	0.000649	D	0.90003	0.6879	M	0.89658	3.05	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.91635	0.996;0.88;0.999	T	0.81795	-0.0769	10	0.87932	D	0	.	11.6888	0.51503	0.0:0.0:1.0:0.0	.	372;321;372	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	C	372;321	ENSP00000301146:R372C;ENSP00000291764:R321C	ENSP00000291764:R321C	R	-	1	0	CYP2A7	46074982	0.722000	0.28017	0.002000	0.10522	0.219000	0.24729	4.340000	0.59328	1.280000	0.44463	0.184000	0.17185	CGC		TCGA-F2-A8YN-01A-11D-A377-08	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	1	0	1	119	316	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	117	309	0	79	2		0	0	0	0	80	2	-6.298770	1	1	121358	1	36	1						0.570000	1.800000									0	0
DENND2C	163259	broad.mit.edu	37	1	115130471	115130471	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:115130471C>T	ENST00000393274.1	-	19	3159	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	DENND2C_ENST00000393277.1_Missense_Mutation_p.R733H|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R788H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C			37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)			TTGGAAAACACGCTCCCCACG	0.478000																								0							SO:0001583	missense			ENST00000393274.1	0	1	hg19	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902121	0.92035	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.48201	0.82;0.82;0.82	5.9	5.9	0.94986	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.60470	0.2271	M	0.79123	2.44	0.27020	N	0.964491	D;P	0.89917	1.0;0.952	D;P	0.75484	0.986;0.629	T	0.59989	-0.7350	10	0.87932	D	0	.	13.5289	0.61611	0.0:0.929:0.0:0.071	.	845;788	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	788;845;845;733	ENSP00000376957:R788H;ENSP00000376955:R845H;ENSP00000376958:R733H	ENSP00000358553:R845H	R	-	2	0	DENND2C	114931994	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.847000	0.62867	2.817000	0.96982	0.551000	0.68910	CGT		TCGA-F2-A8YN-01A-11D-A377-08	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	0	0	0	5	310	0	51	0	4.166419e-04	0	2	0	51	2		0	0	0	0	0	2	1	0.934271	4	304	0	50	2		0	0	0	0	51	2	-5.237607	1	0	121412	1	33	1	1	2	3	2.150538	0	0.570000	1.800000	0.572437	0.050000	1.000000e-02	0.140000	0.060000	0.075758	0.050000	0	3.000000e-02	1.000000e-01
GBA	2629	broad.mit.edu	37	1	155210420	155210420	+	Splice_Site	SNP	C	C	T	rs104886460		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155210420C>T	ENST00000327247.5	-	3	348		c.e3+1		GBA_ENST00000536770.1_Splice_Site|GBA_ENST00000427500.3_Splice_Site|GBA_ENST00000493842.1_Splice_Site|GBA_ENST00000428024.3_Intron|GBA_ENST00000368373.3_Splice_Site	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid			26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)	Velaglucerase alfa(DB06720)	GACTCACTCACCTGATGCCCA	0.527000									Gaucher disease type I															0		GRCh37	CS920754|CS982204	GBA	S	rs104886460	SO:0001630	splice_region_variant	Familial Cancer Database	glucocerebrosidase insufficiency	ENST00000327247.5	0	1	hg19	CCDS1102.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045608	0.75846	.	.	ENSG00000177628	ENST00000427500;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000402928	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9121	0.47114	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBA	153477044	1.000000	0.71417	0.857000	0.33713	0.875000	0.50365	2.207000	0.42788	2.024000	0.59613	0.591000	0.81541	.		TCGA-F2-A8YN-01A-11D-A377-08	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1	0	0	0	8	789	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	0.988600	7	776	0	93	2		0	0	0	0	93	2	-6.003074	1	1	121412	14	43	1						0.570000	1.800000									0	0
PKLR	5313	broad.mit.edu	37	1	155262971	155262971	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155262971C>T	ENST00000342741.4	-	9	1471	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	PKLR_ENST00000392414.3_Missense_Mutation_p.G447D	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC			35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)	Pyruvic acid(DB00119)	CCCTCACCGGCCAGTTGTGGT	0.607000																								0							SO:0001583	missense			ENST00000342741.4	0	1	hg19	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527546	0.85706	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99842	-7.1;-7.1	4.54	4.54	0.55810	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.98965	4.385	0.80722	D	1	P;P	0.42993	0.797;0.797	P;P	0.56474	0.799;0.799	D	0.95923	0.8932	10	0.87932	D	0	.	12.9735	0.58525	0.0:1.0:0.0:0.0	.	478;469	P30613;B1AVT1	KPYR_HUMAN;.	D	503;447;478;392	ENSP00000376214:G447D;ENSP00000339933:G478D	ENSP00000271946:G392D	G	-	2	0	PKLR	153529595	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.601000	0.82783	2.530000	0.85305	0.561000	0.74099	GGC		TCGA-F2-A8YN-01A-11D-A377-08	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	0	0	0	10	353	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	0.996759	9	349	0	59	2		0	0	0	0	59	2	-3.495797	1	1	0	0		1	0	0	0	2.108658	0	0.570000	1.800000	0.567535	0.090000	4.000000e-02	0.170000	0.100000	0.104919	0.090000	0	6.000000e-02	1.400000e-01
ASH1L	55870	broad.mit.edu	37	1	155408246	155408246	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:155408246A>G	ENST00000368346.3	-	5	6339	c.5700T>C	c.(5698-5700)gtT>gtC	p.V1900V	ASH1L_ENST00000392403.3_Silent_p.V1900V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)			124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		CACTCTGAACAACAGCCTCAA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000368346.3	1	1	hg19																																																																																					TCGA-F2-A8YN-01A-11D-A377-08	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	1	0	1	107	267	0	121	1	7.158190e-01	6	2	0	121	2		0	0	0	0	0	2	1	1.000000	106	264	0	116	2		0	0	0	0	121	2	-20.000000	1	1	0	0		1	0	0	0	2.108658	0	0.570000	1.800000	0.567535	0.990000	8.300000e-01	1.000000	1.000000	0.967516	0.990000	1	9.100000e-01	1
ARHGEF11	9826	broad.mit.edu	37	1	156926239	156926239	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:156926239C>T	ENST00000361409.2	-	18	2266	c.1524G>A	c.(1522-1524)tgG>tgA	p.W508*	ARHGEF11_ENST00000368194.3_Nonsense_Mutation_p.W548*	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11			81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				AGAACGGTAGCCACTTGTCCT	0.552000																								0							SO:0001587	stop_gained			ENST00000361409.2	0	1	hg19	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	C	45	11.401996	0.99556	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	.	.	.	4.82	4.82	0.62117	.	0.131135	0.35739	N	0.003012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-11.8078	17.6896	0.88266	0.0:1.0:0.0:0.0	.	.	.	.	X	548;508	.	ENSP00000354644:W508X	W	-	3	0	ARHGEF11	155192863	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.463000	0.66712	2.502000	0.84385	0.585000	0.79938	TGG		TCGA-F2-A8YN-01A-11D-A377-08	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	0	0	0	15	625	0	93	0	1.300840e-01	0	25	0	93	2		0	0	0	0	0	2	1	0.999863	15	619	0	93	2		0	0	0	0	93	2	-2.714682	1	1	0	0		1	0	0	0	2.108658	0	0.570000	1.800000	0.567535	0.070000	4.000000e-02	0.130000	0.080000	0.086847	0.070000	0	5.000000e-02	1.100000e-01
OR10X1	128367	broad.mit.edu	37	1	158548759	158548759	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158548759T>A	ENST00000368150.1	-	1	930	c.931A>T	c.(931-933)Aaa>Taa	p.K311*		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)			37	all_hematologic(112;0.0378)				AAAGCATTTTTCATGTCCTTA	0.438000																								0							SO:0001587	stop_gained			ENST00000368150.1	0	1	hg19	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490702	0.44249	.	.	ENSG00000186400	ENST00000368150	.	.	.	4.5	3.29	0.37713	.	0.000000	0.51477	D	0.000097	.	.	.	.	.	.	0.46458	D	0.99905	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3298	0.38014	0.0:0.0:0.1795:0.8205	.	.	.	.	X	311	.	ENSP00000357132:K311X	K	-	1	0	OR10X1	156815383	0.876000	0.30132	0.997000	0.53966	0.423000	0.31445	2.291000	0.43540	2.001000	0.58596	0.460000	0.39030	AAA		TCGA-F2-A8YN-01A-11D-A377-08	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	1	0	0	42	556	0	129		0	0	0	0	129	2		0	0	0	0	0	2	1	1.000000	41	548	0	127	2		0	0	0	0	129	2	-9.667746	1	1	0	0		1	0	0	0	2.108658	0	0.570000	1.800000	0.567535	0.240000	1.700000e-01	0.320000	0.240000	0.249713	0.240000	0	2.000000e-01	2.900000e-01
SPTA1	6708	broad.mit.edu	37	1	158612287	158612287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:158612287G>A	ENST00000368147.4	-	33	4831	c.4651C>T	c.(4651-4653)Cga>Tga	p.R1551*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1			307	all_hematologic(112;0.0378)				TGCTCAGATCGGCCATCGACT	0.438000																								0							SO:0001587	stop_gained			ENST00000368147.4	0	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	44	11.051605	0.99508	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.26	3.36	0.38483	.	0.337334	0.16870	N	0.196178	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.5799	0.22588	0.083:0.0:0.4906:0.4264	.	.	.	.	X	1551	.	ENSP00000357129:R1551X	R	-	1	2	SPTA1	156878911	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	3.911000	0.56378	0.768000	0.33290	-0.136000	0.14681	CGA		TCGA-F2-A8YN-01A-11D-A377-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	0	0	11	465	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.998312	10	463	0	79	2		0	0	0	0	79	2	-2.727305	1	1	120858	12	41	1	0	0	0	2.108658	0	0.570000	1.800000	0.567535	0.070000	3.000000e-02	0.140000	0.080000	0.087444	0.070000	0	5.000000e-02	1.100000e-01
OLFML2B	25903	broad.mit.edu	37	1	161953664	161953664	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:161953664G>A	ENST00000294794.3	-	8	2477	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	OLFML2B_ENST00000367938.1_Missense_Mutation_p.A168V|OLFML2B_ENST00000367940.2_Missense_Mutation_p.A686V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	p.A685V(2)		48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)		GCTATCCACGGCATACAGCAC	0.562000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000294794.3	0	1	hg19	CCDS1236.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009105	0.75046	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.87179	-2.22;-2.22;-2.22	5.36	5.36	0.76844	Olfactomedin-like (3);	.	.	.	.	D	0.88709	0.6510	L	0.46741	1.465	0.44373	D	0.997279	D;P	0.89917	1.0;0.917	D;P	0.87578	0.998;0.817	D	0.86127	0.1572	8	0.25106	T	0.35	.	16.5695	0.84607	0.0:0.0:1.0:0.0	.	686;685	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	V	685;686;168	ENSP00000294794:A685V;ENSP00000356917:A686V;ENSP00000356915:A168V	ENSP00000294794:A685V	A	-	2	0	OLFML2B	160220288	1.000000	0.71417	0.766000	0.31476	0.396000	0.30629	9.726000	0.98782	2.491000	0.84063	0.561000	0.74099	GCC		TCGA-F2-A8YN-01A-11D-A377-08	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	0	0	0	6	646	0	118	1	5.403903e-01	2	177	0	118	2		0	0	0	0	0	2	1	0.964760	6	644	0	117	2		0	0	0	0	118	2	-1.930734	0	1	0	0		1	0	0	0	2.108658	0	0.570000	1.800000	0.567535	0.030000	0	0.070000	0.040000	0.036814	0.030000	0	1.000000e-02	5.000000e-02
TAS1R2	80834	broad.mit.edu	37	1	19181067	19181067	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:19181067G>A	ENST00000375371.3	-	3	918	c.897C>T	c.(895-897)atC>atT	p.I299I	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2			45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		Aspartame(DB00168)	ACTCGGAGGCGATCCACACGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000375371.3	1	1	hg19	CCDS187.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1	1	0	1	33	97	0	27		0	0	0	0	27	2		0	0	0	0	0	2	1	1.000000	31	96	0	27	2		0	0	0	0	27	2	-20.000000	1	1	121412	4	35	1	1	2	3	2.195803	0	0.570000	1.800000	0.578411	0.910000	6.600000e-01	1.000000	1.000000	0.899554	0.910000	1	7.800000e-01	1
MAP7D1	55700	broad.mit.edu	37	1	36638181	36638181	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:36638181C>T	ENST00000373151.2	+	4	793	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	MAP7D1_ENST00000316156.4_Missense_Mutation_p.R193C|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R193C	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1			19		Myeloproliferative disorder(586;0.0393)			CGAGCAACGCCGTGCAGCCCT	0.627000																								0							SO:0001583	missense			ENST00000373151.2	1	1	hg19	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006474	0.74932	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.41	2.07	0.26955	.	0.000000	0.36167	N	0.002748	T	0.35278	0.0926	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.21861	-1.0233	10	0.87932	D	0	-9.3369	13.1246	0.59346	0.5338:0.4662:0.0:0.0	.	193;193;193	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	C	154;193;193;193	ENSP00000390091:R154C;ENSP00000320228:R193C;ENSP00000362243:R193C;ENSP00000362244:R193C	ENSP00000320228:R193C	R	+	1	0	MAP7D1	36410768	0.998000	0.40836	0.921000	0.36526	0.840000	0.47671	1.949000	0.40313	0.590000	0.29694	0.655000	0.94253	CGT		TCGA-F2-A8YN-01A-11D-A377-08	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	1	0	1	34	81	0	14	1	1	59	121	0	14	2		0	0	0	0	0	2	1	1.000000	34	79	0	14	2		0	0	0	0	14	2	-20.000000	1	1	0	0		1	1	2	3	2.150538	0	0.570000	1.800000	0.572437	0.990000	7.600000e-01	1.000000	1.000000	0.963032	0.990000	1	8.900000e-01	1
GRIK3	2899	broad.mit.edu	37	1	37346245	37346245	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	p.D180D(2)		89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			CTGTACTGTCGTCATAGACCA	0.612000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000373091.3	1	1	hg19	CCDS416.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	0	0	0	31	1116	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1.000000	30	1096	0	122	2		0	0	0	0	127	2	-2.721959	1	1	121412	2	43	1	1	2	3	2.150538	0	0.570000	1.800000	0.572437	0.090000	5.000000e-02	0.140000	0.100000	0.107040	0.090000	0	7.000000e-02	1.200000e-01
AGBL4	84871	broad.mit.edu	37	1	49511348	49511348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:49511348G>A	ENST00000371839.1	-	5	618	c.502C>T	c.(502-504)Cca>Tca	p.P168S	AGBL4_ENST00000371836.1_Missense_Mutation_p.P168S|RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371838.1_Missense_Mutation_p.P168S	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4			15					TATGTATATGGGTAGCAGTAA	0.458000																								0							SO:0001583	missense			ENST00000371839.1	1	1	hg19	CCDS44137.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863043	0.91511	.	.	ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836	T;T;T	0.29142	1.58;1.58;1.58	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.82526	-0.0413	9	.	.	.	-8.6338	18.6038	0.91259	0.0:0.0:1.0:0.0	.	180;13;168	Q5VU57-2;B1AMW2;Q5VU57	.;.;CBPC6_HUMAN	S	168;162;168;168	ENSP00000360905:P168S;ENSP00000360904:P168S;ENSP00000360902:P168S	.	P	-	1	0	AGBL4	49283935	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	9.444000	0.97578	2.640000	0.89533	0.563000	0.77884	CCA		TCGA-F2-A8YN-01A-11D-A377-08	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	1	0	1	13	42	0	12	0	0	0	1	0	12	2		0	0	0	0	0	2	1	0.999720	13	41	0	12	2		0	0	0	0	12	2	-20.000000	1	1	0	0		1	1	2	3	2.150538	0	0.570000	1.800000	0.572437	0.840000	4.900000e-01	1.000000	1.000000	0.828232	0.840000	0	6.500000e-01	1
WDR63	126820	broad.mit.edu	37	1	85575766	85575766	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr1:85575766C>T	ENST00000294664.6	+	16	1914	c.1734C>T	c.(1732-1734)caC>caT	p.H578H	WDR63_ENST00000326813.8_Silent_p.H539H|WDR63_ENST00000370596.1_Silent_p.H539H	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63			36					GTTTAGACCACTGTCCAACCA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000294664.6	1	1	hg19	CCDS702.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	1	0	1	137	381	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1.000000	136	379	0	89	2		0	0	0	0	89	2	-20.000000	1	1	121412	1	36	1	1	2	3	2.150538	0	0.570000	1.800000	0.572437	0.920000	7.900000e-01	1.000000	1.000000	0.929255	0.920000	1	8.600000e-01	1
RBM12	10137	broad.mit.edu	37	20	34241168	34241168	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:34241168G>A	ENST00000374114.3	-	3	2340	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P693S|RBM12_ENST00000359646.1_Missense_Mutation_p.P693S|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12			36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)		CCTGCACTGGGCATTCCCGCA	0.557000																								0							SO:0001583	missense			ENST00000374114.3	0	1	hg19	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	G	36	5.653504	0.96724	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.22336	1.96;1.96;1.96	4.03	4.03	0.46877	.	0.000000	0.64402	D	0.000018	T	0.27663	0.0680	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.02365	-1.1170	10	0.19590	T	0.45	-3.377	14.4866	0.67622	0.0:0.0:1.0:0.0	.	693	Q9NTZ6	RBM12_HUMAN	S	693;693;693;492	ENSP00000363228:P693S;ENSP00000352668:P693S;ENSP00000363217:P693S	ENSP00000339879:P492S	P	-	1	0	RBM12	33704582	0.002000	0.14202	0.997000	0.53966	0.903000	0.53119	-0.160000	0.10041	2.528000	0.85240	0.563000	0.77884	CCC		TCGA-F2-A8YN-01A-11D-A377-08	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	0	0	0	6	673	0	144	0	1.181322e-01	0	56	0	144	2		0	0	0	0	0	2	1	0.963443	6	663	0	143	2		0	0	0	0	144	2	-2.172839	0	1	0	0		1	0	0	0	2.121183	0	0.570000	1.800000	0.570000	0.020000	0	0.070000	0.040000	0.035383	0.020000	0	1.000000e-02	5.000000e-02
SLMO2	51012	broad.mit.edu	37	20	57613612	57613612	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr20:57613612T>A	ENST00000355937.4	-	2	288	c.110A>T	c.(109-111)gAt>gTt	p.D37V	SLMO2_ENST00000371033.5_Missense_Mutation_p.D37V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)			5	all_lung(29;0.00711)		Colorectal(105;0.109)		GTCCAACACATCAACTCCAAC	0.478000																								0							SO:0001583	missense			ENST00000355937.4	1	1	hg19	CCDS42893.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560690	0.86335	.	.	ENSG00000101166	ENST00000355937;ENST00000371033	T;T	0.32515	1.45;1.45	5.36	5.36	0.76844	PRELI/MSF1 (2);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.936;0.996	T	0.81703	-0.0812	10	0.87932	D	0	-10.0953	14.8261	0.70113	0.0:0.0:0.0:1.0	.	37;37	Q5JX17;Q9Y3B1	.;SLMO2_HUMAN	V	37	ENSP00000348206:D37V;ENSP00000360072:D37V	ENSP00000348206:D37V	D	-	2	0	SLMO2	57047007	1.000000	0.71417	0.922000	0.36590	0.997000	0.91878	7.578000	0.82498	2.153000	0.67306	0.533000	0.62120	GAT		TCGA-F2-A8YN-01A-11D-A377-08	SLMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079897.2	1	0	1	212	479	0	114	1	1	114	119	0	114	2		0	0	0	0	0	2	1	1.000000	206	471	0	111	2		0	0	0	0	114	2	-20.000000	1	1	0	0		1	0	0	0	2.121183	0	0.570000	1.800000	0.570000	0.990000	9.500000e-01	1.000000	1.000000	0.997016	0.990000	1	9.900000e-01	1
MYO18B	84700	broad.mit.edu	37	22	26164808	26164808	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:26164808G>T	ENST00000407587.2	+	4	1094	c.925G>T	c.(925-927)Gta>Tta	p.V309L	MYO18B_ENST00000335473.7_Missense_Mutation_p.V309L|MYO18B_ENST00000536101.1_Missense_Mutation_p.V309L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB			146					AGGGAAGCACGTAAGGCCCCA	0.557000																								0							SO:0001583	missense			ENST00000407587.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	9.910	1.209362	0.22289	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86297	-2.08;-2.08;-2.1	4.6	1.27	0.21489	.	1.784430	0.03308	N	0.190055	T	0.78168	0.4241	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.61347	-0.7081	10	0.33940	T	0.23	.	5.4849	0.16743	0.1802:0.0:0.6607:0.1591	.	309;309;309	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	L	309	ENSP00000441229:V309L;ENSP00000334563:V309L;ENSP00000386096:V309L	ENSP00000334563:V309L	V	+	1	0	MYO18B	24494808	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.692000	0.05127	0.051000	0.15978	0.306000	0.20318	GTA		TCGA-F2-A8YN-01A-11D-A377-08	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	1	0	1	26	44	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1.000000	25	43	0	29	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	0	1	1	1.563576	1	0.570000	1.800000	0.400989	0.870000	6.400000e-01	1.000000	1.000000	0.862409	0.870000	1	7.500000e-01	9.600000e-01
ZNRF3	84133	broad.mit.edu	37	22	29445400	29445400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:29445400C>T	ENST00000544604.2	+	8	1406	c.1231C>T	c.(1231-1233)Cag>Tag	p.Q411*	ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.Q311*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.Q311*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3			28					CTATTCCCCGCAGACCCCCGC	0.682000																								0							SO:0001587	stop_gained			ENST00000544604.2	0	1	hg19	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353092	0.95830	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	.	.	.	5.53	5.53	0.82687	.	0.307718	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-2.0863	18.456	0.90721	0.0:1.0:0.0:0.0	.	.	.	.	X	411;311;118;311;311	.	ENSP00000328614:Q311X	Q	+	1	0	ZNRF3	27775400	1.000000	0.71417	0.851000	0.33527	0.570000	0.35934	5.647000	0.67923	2.593000	0.87608	0.655000	0.94253	CAG		TCGA-F2-A8YN-01A-11D-A377-08	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	1	0	0	56	145	0	32	1	9.565555e-01	9	7	0	32	2		0	0	0	0	0	2	1	1.000000	55	143	0	31	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	1	2	3	2.178060	0	0.570000	1.800000	0.576041	0.990000	7.800000e-01	1.000000	1.000000	0.954887	0.990000	1	8.800000e-01	1
DRG1	4733	broad.mit.edu	37	22	31819348	31819348	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:31819348G>A	ENST00000331457.4	+	6	826	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	p.R222H(1)		11					GTGACTCTACGTAGTGATGCT	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000331457.4	0	1	hg19	CCDS13897.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276534	0.80580	.	.	ENSG00000185721	ENST00000331457	T	0.37584	1.19	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	M	0.85859	2.78	0.80722	D	1	B	0.22146	0.065	B	0.27170	0.077	T	0.53457	-0.8436	10	0.59425	D	0.04	-11.3866	18.1039	0.89513	0.0:0.0:1.0:0.0	.	222	Q9Y295	DRG1_HUMAN	H	222	ENSP00000329715:R222H	ENSP00000329715:R222H	R	+	2	0	DRG1	30149348	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.858000	0.92256	2.581000	0.87130	0.563000	0.77884	CGT		TCGA-F2-A8YN-01A-11D-A377-08	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075680.5	0	0	0	7	287	0	67	0	3.299076e-01	0	44	0	67	2		0	0	0	0	0	2	1	0.979480	7	281	0	68	2		0	0	0	0	67	2	-3.322044	1	1	121412	3	34	1	0	1	1	1.569789	1	0.570000	1.800000	0.408040	0.060000	2.000000e-02	0.120000	0.060000	0.068543	0.060000	0	3.000000e-02	9.000000e-02
RANGAP1	5905	broad.mit.edu	37	22	41647029	41647029	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr22:41647029C>T	ENST00000455915.2	-	12	2934	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	RANGAP1_ENST00000405486.1_Missense_Mutation_p.A489T|RANGAP1_ENST00000356244.3_Missense_Mutation_p.A489T|RANGAP1_ENST00000407260.4_Missense_Mutation_p.A434T			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1			19					TCCTGCACTGCCATCCTCACA	0.557000																								0							SO:0001583	missense			ENST00000455915.2	0	1	hg19	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204016	0.79127	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	4.53	4.53	0.55603	Ran-GTPase activating protein 1, C-terminal (3);	0.112249	0.64402	D	0.000014	D	0.95771	0.8624	M	0.77820	2.39	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.96006	0.8997	10	0.54805	T	0.06	-10.6364	16.2705	0.82616	0.0:1.0:0.0:0.0	.	434;489	F8W7I9;P46060	.;RAGP1_HUMAN	T	489;489;489;489;434	ENSP00000385866:A489T;ENSP00000348577:A489T;ENSP00000401470:A489T;ENSP00000385354:A434T	ENSP00000348577:A489T	A	-	1	0	RANGAP1	39976975	0.990000	0.36364	0.526000	0.27913	0.875000	0.50365	2.947000	0.49058	2.084000	0.62774	0.555000	0.69702	GCA		TCGA-F2-A8YN-01A-11D-A377-08	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	0	0	0	7	352	0	46	1	9.578875e-01	7	277	0	46	2		0	0	0	0	0	2	1	0.980072	7	348	0	45	2		0	0	0	0	46	2	-3.147583	1	1	0	0		1	1	2	3	2.193121	0	0.570000	1.800000	0.577229	0.070000	2.000000e-02	1.000000	0.070000	0.122195	0.070000	0	4.000000e-02	1.100000e-01
STEAP3	55240	broad.mit.edu	37	2	120005741	120005741	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:120005741C>T	ENST00000354888.5	+	4	1483	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	STEAP3_ENST00000409811.1_Missense_Mutation_p.R327C|STEAP3_ENST00000393106.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393107.2_Missense_Mutation_p.R327C|STEAP3_ENST00000425223.2_Missense_Mutation_p.R327C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Missense_Mutation_p.R327C|STEAP3_ENST00000393110.2_Missense_Mutation_p.R337C|STEAP3_ENST00000393108.2_Missense_Mutation_p.R327C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase			17					GCCGCTGCGCCGCGCCCACCG	0.647000																								0							SO:0001583	missense			ENST00000354888.5	0	1	hg19	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619547	0.46736	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	D;D;D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	4.73	3.83	0.44106	Flavoprotein transmembrane component (1);	0.229211	0.38959	N	0.001514	D	0.94434	0.8209	M	0.78801	2.425	0.53005	D	0.999967	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.74023	0.982;0.969;0.745	D	0.94067	0.7332	9	.	.	.	-17.2643	13.0647	0.59025	0.1787:0.8213:0.0:0.0	.	327;337;327	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	C	327;327;327;337;327;327;327;327	ENSP00000376820:R327C;ENSP00000346961:R327C;ENSP00000396873:R327C;ENSP00000376822:R337C;ENSP00000376818:R327C;ENSP00000386510:R327C;ENSP00000376819:R327C;ENSP00000396214:R327C	.	R	+	1	0	STEAP3	119722211	1.000000	0.71417	0.975000	0.42487	0.152000	0.21847	1.719000	0.38011	1.150000	0.42419	0.561000	0.74099	CGC		TCGA-F2-A8YN-01A-11D-A377-08	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	1	0	0	11	227	0	27	1	7.258385e-01	4	50	0	27	2		0	0	0	0	0	2	1	0.998333	10	226	0	26	2		0	0	0	0	27	2	-12.951570	1	1	120430	1	32	1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.160000	8.000000e-02	0.270000	0.160000	0.172881	0.160000	0	1.100000e-01	2.200000e-01
WDR33	55339	broad.mit.edu	37	2	128466262	128466262	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:128466262C>T	ENST00000322313.4	-	21	3928	c.3770G>A	c.(3769-3771)cGa>cAa	p.R1257Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33			39	Colorectal(110;0.1)				TTTGCCTCCTCGGTCTTCAGA	0.612000																								0							SO:0001583	missense			ENST00000322313.4	1	1	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759078	0.89843	.	.	ENSG00000136709	ENST00000322313	D	0.90324	-2.65	5.04	5.04	0.67666	.	0.077936	0.51477	D	0.000094	T	0.78496	0.4292	N	0.14661	0.345	0.80722	D	1	P	0.48998	0.918	B	0.32533	0.147	T	0.81357	-0.0969	10	0.48119	T	0.1	-9.4874	11.5723	0.50841	0.0:0.8202:0.1798:0.0	.	1257	Q9C0J8	WDR33_HUMAN	Q	1257	ENSP00000325377:R1257Q	ENSP00000325377:R1257Q	R	-	2	0	WDR33	128182732	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.410000	0.44592	2.640000	0.89533	0.655000	0.94253	CGA		TCGA-F2-A8YN-01A-11D-A377-08	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	1	0	1	139	340	0	70	1	9.992064e-01	12	17	0	70	2		0	0	0	0	0	2	1	1.000000	137	335	0	69	2		0	0	0	0	70	2	-8.896610	1	1	121404	1	41	1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.990000	8.600000e-01	1.000000	1.000000	0.975124	0.990000	1	9.300000e-01	1
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141200074G>A	ENST00000389484.3	-	66	11384	c.10413C>T	c.(10411-10413)tgC>tgT	p.C3471C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			GACACTCACCGCAGTTGGCCT	0.448000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001630	splice_region_variant			ENST00000389484.3	0	1	hg19	CCDS2182.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	11	326	1	51		0	0	0	1	51	2		0	0	0	0	0	2	0	0.064514	11	322	1	51	20		0	0	0	1	51	2	-3.146105	1	1	121410	1	33	1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.110000	5.000000e-02	0.190000	0.120000	0.122511	0.110000	0	8.000000e-02	1.600000e-01
LRP1B	53353	broad.mit.edu	37	2	141267495	141267495	+	Splice_Site	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:141267495A>G	ENST00000389484.3	-	52	9370		c.e52+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			CAGTGTTCATACCGCAGCCTG	0.512000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001630	splice_region_variant			ENST00000389484.3	0	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	31	5.096901	0.94197	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140983965	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.852000	0.92215	2.371000	0.80710	0.533000	0.62120	.		TCGA-F2-A8YN-01A-11D-A377-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	0	6	367	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	0.964100	6	363	0	75	2		0	0	0	0	75	2	-6.265689	1	1	0	0		1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.050000	1.000000e-02	0.120000	0.060000	0.064639	0.050000	0	3.000000e-02	9.000000e-02
XIRP2	129446	broad.mit.edu	37	2	168100148	168100148	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:168100148G>A	ENST00000409195.1	+	9	2335	c.2246G>A	c.(2245-2247)gGc>gAc	p.G749D	XIRP2_ENST00000295237.9_Missense_Mutation_p.G749D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G527D|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2			315					GATGGTTCGGGCCAAATGCTG	0.383000																								0							SO:0001583	missense			ENST00000409195.1	0	1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680470	0.68042	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.28666	1.65;1.65;1.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.63260	-0.6677	10	0.56958	D	0.05	-15.5671	19.9164	0.97064	0.0:0.0:1.0:0.0	.	574;574;527	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	749;749;527	ENSP00000386840:G749D;ENSP00000295237:G749D;ENSP00000387255:G527D	ENSP00000295237:G749D	G	+	2	0	XIRP2	167808394	1.000000	0.71417	0.766000	0.31476	0.867000	0.49689	9.106000	0.94253	2.810000	0.96702	0.650000	0.86243	GGC		TCGA-F2-A8YN-01A-11D-A377-08	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	0	0	0	5	339	1	99		0	0	0	1	99	2		0	0	0	0	0	2	0	0.043587	6	335	1	98	13		0	0	0	1	99	2	-3.037425	1	1	0	0		1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.050000	1.000000e-02	0.110000	0.050000	0.059982	0.050000	0	3.000000e-02	8.000000e-02
CRYGD	1421	broad.mit.edu	37	2	208988967	208988967	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:208988967C>G	ENST00000264376.4	-	2	148	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D			5					ATCCAGCAGCCGCTGTCCACG	0.662000																								0							SO:0001583	missense			ENST00000264376.4	0	1	hg19	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854297	0.91355	.	.	ENSG00000118231	ENST00000264376	D	0.92752	-3.1	4.35	4.35	0.52113	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98877	1.0768	10	0.87932	D	0	.	14.3998	0.67034	0.0:1.0:0.0:0.0	.	41	P07320	CRGD_HUMAN	R	41	ENSP00000264376:G41R	ENSP00000264376:G41R	G	-	1	0	CRYGD	208697212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.730000	0.68546	2.245000	0.73994	0.491000	0.48974	GGC		TCGA-F2-A8YN-01A-11D-A377-08	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	0	0	0	6	98	0	26		0	0	0	0	26	2		0	0	0	0	0	2	1	0.965404	6	97	0	26	2		0	0	0	0	26	2	-10.078430	1	0	0	0		1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.210000	8.000000e-02	0.400000	0.200000	0.227391	0.210000	0	1.400000e-01	3.100000e-01
USP37	57695	broad.mit.edu	37	2	219414540	219414540	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:219414540C>A	ENST00000258399.3	-	6	833	c.421G>T	c.(421-423)Gac>Tac	p.D141Y	USP37_ENST00000415516.1_Missense_Mutation_p.D69Y|USP37_ENST00000454775.1_Missense_Mutation_p.D141Y|USP37_ENST00000338465.5_Missense_Mutation_p.D141Y|USP37_ENST00000418019.1_Missense_Mutation_p.D141Y	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37			35		Renal(207;0.0915)			ACCTGATTGTCTGAGTAAGAA	0.488000																								0							SO:0001583	missense			ENST00000258399.3	1	1	hg19	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191379	0.58017	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.49139	0.92;0.92;0.92;0.92;0.79	5.03	5.03	0.67393	.	0.164432	0.53938	D	0.000059	T	0.44787	0.1310	N	0.08118	0	0.45354	D	0.998346	D;P;P	0.59767	0.986;0.904;0.845	P;P;B	0.57152	0.814;0.542;0.254	T	0.55147	-0.8186	10	0.66056	D	0.02	-13.609	16.7819	0.85565	0.0:1.0:0.0:0.0	.	141;69;141	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	Y	141;141;69;141;141	ENSP00000258399:D141Y;ENSP00000393662:D141Y;ENSP00000400902:D69Y;ENSP00000396585:D141Y;ENSP00000345043:D141Y	ENSP00000258399:D141Y	D	-	1	0	USP37	219122784	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.725000	0.61979	2.640000	0.89533	0.579000	0.79373	GAC		TCGA-F2-A8YN-01A-11D-A377-08	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	1	0	1	49	194	0	37	1	1.883101e-01	2	2	0	37	2		0	0	0	0	0	2	1	1.000000	48	192	0	37	2		0	0	0	0	37	2	-20.000000	1	1	0	0		1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.690000	5.300000e-01	0.870000	0.700000	0.705648	0.690000	0	6.100000e-01	7.900000e-01
SP140	11262	broad.mit.edu	37	2	231174695	231174695	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:231174695C>T	ENST00000392045.3	+	23	2229	c.2115C>T	c.(2113-2115)tgC>tgT	p.C705C	SP140_ENST00000343805.6_Silent_p.C645C|SP140_ENST00000486687.2_Silent_p.C629C|SP140_ENST00000417495.3_Silent_p.C591C|SP140_ENST00000350136.5_Silent_p.C574C|SP140_ENST00000420434.3_Silent_p.C678C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	p.C705C(1)		12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)			TGTTCTGTTGCGACACTTGTT	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000392045.3	1	1	hg19	CCDS42831.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	1	0	1	101	335	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	1.000000	99	331	0	55	2		0	0	0	0	57	2	-3.163996	1	1	121354	30	48	1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.790000	6.600000e-01	0.940000	0.800000	0.806274	0.790000	0	7.300000e-01	8.700000e-01
THADA	63892	broad.mit.edu	37	2	43768407	43768407	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:43768407C>T	ENST00000405006.4	-	21	3506	c.3155G>A	c.(3154-3156)tGt>tAt	p.C1052Y	THADA_ENST00000405975.2_Missense_Mutation_p.C1052Y|THADA_ENST00000415080.2_Missense_Mutation_p.C762Y|THADA_ENST00000330266.7_Missense_Mutation_p.C762Y	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated			66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)			TCTCCAACAACATACCAGCAC	0.413000																								0							SO:0001583	missense			ENST00000405006.4	1	1	hg19	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.564569|3.564569	0.65651|0.65651	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T;T|.	0.40476|.	1.03;1.03;1.03;1.03|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66519|0.66519	0.2797|0.2797	L|L	0.39085|0.39085	1.19|1.19	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	0.998;1.0;0.997;1.0|.	D;D;D;D|.	0.91635|.	0.991;0.999;0.988;0.999|.	T|T	0.60682|0.60682	-0.7215|-0.7215	10|5	0.87932|.	D|.	0|.	.|.	19.7706|19.7706	0.96363|0.96363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	762;1053;762;1052|.	Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6|.	.;.;.;THADA_HUMAN|.	Y|I	762;1052;1053;762;1052|366	ENSP00000331105:C762Y;ENSP00000386088:C1052Y;ENSP00000416048:C762Y;ENSP00000385995:C1052Y|.	ENSP00000331105:C762Y|.	C|V	-|-	2|1	0|0	THADA|THADA	43621911|43621911	1.000000|1.000000	0.71417|0.71417	0.869000|0.869000	0.34112|0.34112	0.998000|0.998000	0.95712|0.95712	6.179000|6.179000	0.71974|0.71974	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	TGT|GTT		TCGA-F2-A8YN-01A-11D-A377-08	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	1	0	1	203	584	0	157	1	9.649836e-01	6	12	0	157	2		0	0	0	0	0	2	1	1.000000	199	574	0	157	2		0	0	0	0	157	2	-20.000000	1	1	0	0		1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.880000	7.800000e-01	1.000000	0.890000	0.895320	0.880000	1	8.300000e-01	9.500000e-01
BCL11A	53335	broad.mit.edu	37	2	60688454	60688454	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:60688454G>A	ENST00000335712.6	-	4	1820	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	BCL11A_ENST00000538214.1_Silent_p.G497G|BCL11A_ENST00000537768.1_Silent_p.G200G|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.G497G|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.G531G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)			59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		CCACGACCGCGCCCCGCGAGC	0.697000			T	IGH@	B-CLL										Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0							SO:0001819	synonymous_variant			ENST00000335712.6	0	1	hg19	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544002	0.04024	.	.	ENSG00000119866	ENST00000378117	.	.	.	4.08	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5491	0.27786	0.1139:0.0:0.8861:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BCL11A	60541958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.605000	0.24179	1.307000	0.44944	0.650000	0.86243	.		TCGA-F2-A8YN-01A-11D-A377-08	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	0	5	70	0	20	0	6.993007e-03	0	2	0	20	2		0	0	0	0	0	2	1	0.930440	4	67	0	20	2		0	0	0	0	20	2	-3.331042	1	1	119960	1	26	1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.240000	9.000000e-02	0.480000	0.230000	0.267556	0.240000	0	1.500000e-01	3.700000e-01
ALMS1	7840	broad.mit.edu	37	2	73646378	73646378	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr2:73646378G>A	ENST00000264448.6	+	3	689	c.578G>A	c.(577-579)gGc>gAc	p.G193D	ALMS1_ENST00000409009.1_Missense_Mutation_p.G151D|ALMS1_ENST00000377715.1_Missense_Mutation_p.G193D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1			147					CTGGAGGAGGGCATATTGACG	0.418000																								0							SO:0001583	missense			ENST00000264448.6	0	1	hg19	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849757	0.17034	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.42513	2.07;1.81;0.97	4.51	2.69	0.31865	.	0.196490	0.25372	N	0.031150	T	0.30978	0.0782	L	0.36672	1.1	0.20703	N	0.999867	B;B	0.27498	0.18;0.18	B;B	0.31442	0.13;0.13	T	0.28522	-1.0041	10	0.87932	D	0	.	5.4853	0.16747	0.1022:0.0:0.7002:0.1976	.	151;193	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	D	151;193;193	ENSP00000386627:G151D;ENSP00000264448:G193D;ENSP00000366944:G193D	ENSP00000264448:G193D	G	+	2	0	ALMS1	73499886	0.941000	0.31946	0.353000	0.25747	0.203000	0.24098	1.499000	0.35671	0.623000	0.30267	0.655000	0.94253	GGC		TCGA-F2-A8YN-01A-11D-A377-08	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	0	0	0	6	672	0	114	0	7.087447e-04	0	4	0	114	2		0	0	0	0	0	2	1	0.963611	6	664	0	113	2		0	0	0	0	114	2	-2.530566	1	1	0	0		1	0	0	0	2.085772	0	0.570000	1.800000	0.565041	0.020000	0	0.070000	0.040000	0.035094	0.020000	0	1.000000e-02	5.000000e-02
HCLS1	3059	broad.mit.edu	37	3	121354642	121354642	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121354642C>T	ENST00000314583.3	-	9	722	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	HCLS1_ENST00000428394.2_Missense_Mutation_p.G174S|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1			35					TCATTGAAGCCGACAGCGCTC	0.557000																								0							SO:0001583	missense			ENST00000314583.3	1	1	hg19	CCDS3003.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	13.00	2.107767	0.37242	0.0	1.16E-4	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.25414	1.91;1.8	4.76	2.96	0.34315	.	0.252518	0.45606	N	0.000346	T	0.24236	0.0587	L	0.35542	1.07	0.53688	D	0.999973	P;D	0.56746	0.952;0.977	B;P	0.48952	0.334;0.596	T	0.02632	-1.1131	10	0.72032	D	0.01	-9.5433	9.1271	0.36821	0.0:0.8154:0.0:0.1846	.	174;211	E7EVW7;P14317	.;HCLS1_HUMAN	S	211;174	ENSP00000320176:G211S;ENSP00000387645:G174S	ENSP00000320176:G211S	G	-	1	0	HCLS1	122837332	0.914000	0.31030	0.979000	0.43373	0.580000	0.36256	1.597000	0.36729	1.357000	0.45904	-0.150000	0.13652	GGC		TCGA-F2-A8YN-01A-11D-A377-08	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	1	0	0	23	305	0	48	0	9.787646e-01	0	85	0	48	2		0	0	0	0	0	2	1	0.999999	23	299	0	47	2		0	0	0	0	48	2	-2.598651	1	1	121410	163	56	1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.240000	1.500000e-01	0.350000	0.240000	0.253143	0.240000	0	1.900000e-01	3.000000e-01
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:121822548G>A	ENST00000330540.2	+	3	370	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.R3H|CD86_ENST00000393627.2_Missense_Mutation_p.R79H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule			23				Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	TATATGGGCCGCACAAGTTTT	0.423000													GBM(67;1379 1389 36064 39806)											0							SO:0001583	missense			ENST00000330540.2	0	1	hg19	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619268	0.87460	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.72505	1.2;-0.66;-0.66;-0.66	5.54	5.54	0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000016	D	0.87414	0.6171	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89572	0.3814	10	0.87932	D	0	-18.8448	14.8575	0.70351	0.0:0.0:1.0:0.0	.	85	P42081	CD86_HUMAN	H	3;85;79;79	ENSP00000418988:R3H;ENSP00000332049:R85H;ENSP00000419116:R79H;ENSP00000377248:R79H	ENSP00000332049:R85H	R	+	2	0	CD86	123305238	0.999000	0.42202	0.958000	0.39756	0.915000	0.54546	4.887000	0.63156	2.884000	0.98904	0.655000	0.94253	CGC		TCGA-F2-A8YN-01A-11D-A377-08	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	0	0	0	6	742	0	124	0	4.198185e-03	0	10	0	124	2	0	6.844924e-01	4	1242	2	983	9	1	0.963877	7	733	0	122	2		0	0	0	0	124	2	-1.805282	0	1	0	0		1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.020000	0	0.060000	0.030000	0.031635	0.020000	0	1.000000e-02	5.000000e-02
ADCY5	111	broad.mit.edu	37	3	123046467	123046467	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123046467G>A	ENST00000462833.1	-	7	3157	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	ADCY5_ENST00000309879.5_Missense_Mutation_p.R299W|ADCY5_ENST00000491190.1_Missense_Mutation_p.R282W	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5			60					CCACAGACCCGCTTCTGGGTG	0.627000																								0							SO:0001583	missense			ENST00000462833.1	1	1	hg19	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998117	0.74818	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;D;D;T	0.82526	-1.23;-1.62;-1.6;-1.49	5.2	4.27	0.50696	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.64402	D	0.000003	D	0.89434	0.6714	M	0.79123	2.44	0.80722	D	1	P;D	0.76494	0.837;0.999	B;P	0.61275	0.326;0.886	D	0.90581	0.4529	10	0.66056	D	0.02	.	15.0194	0.71617	0.0:0.0:0.7655:0.2345	.	649;282	O95622;B3KWA8	ADCY5_HUMAN;.	W	649;282;299;208	ENSP00000419361:R649W;ENSP00000418537:R282W;ENSP00000308685:R299W;ENSP00000420082:R208W	ENSP00000308685:R299W	R	-	1	2	ADCY5	124529157	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	1.013000	0.29937	2.578000	0.87016	0.655000	0.94253	CGG		TCGA-F2-A8YN-01A-11D-A377-08	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	1	0	1	49	62	0	20	0	5.943267e-01	0	4	0	20	2		0	0	0	0	0	2	1	1.000000	49	62	0	20	2		0	0	0	0	20	2	-20.000000	1	1	0	0		1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.990000	9.900000e-01	1.000000	1.000000	0.999990	0.990000	1	9.900000e-01	1
MYLK	4638	broad.mit.edu	37	3	123419230	123419230	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:123419230C>T	ENST00000475616.1	-	15	3084	c.3085G>A	c.(3085-3087)Gcc>Acc	p.A1029T	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.A1029T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1029T|MYLK_ENST00000346322.5_Missense_Mutation_p.A960T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1029T			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			GCAGGCTTGGCGTTGCCCACG	0.607000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	6.410	0.443824	0.12164	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.70869	-0.52;-0.45;-0.52;-0.49;-0.45	5.44	0.483	0.16820	.	.	.	.	.	T	0.67135	0.2861	M	0.75264	2.295	0.29840	N	0.829312	D;P;D;B;P;B	0.59767	0.986;0.951;0.978;0.021;0.955;0.011	P;B;P;B;B;B	0.48770	0.589;0.371;0.501;0.013;0.322;0.006	T	0.60016	-0.7345	9	0.20046	T	0.44	.	2.1129	0.03707	0.1236:0.4786:0.12:0.2778	.	1029;107;960;1029;960;1029	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1029;1029;1029;960;1029	ENSP00000354004:A1029T;ENSP00000353452:A1029T;ENSP00000352088:A1029T;ENSP00000320622:A960T;ENSP00000418335:A1029T	ENSP00000320622:A960T	A	-	1	0	MYLK	124901920	0.022000	0.18835	0.020000	0.16555	0.051000	0.14879	0.057000	0.14279	-0.205000	0.10219	0.455000	0.32223	GCC		TCGA-F2-A8YN-01A-11D-A377-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	202	545	0	147	1	9.999938e-01	2	47	0	147	2		0	0	0	0	0	2	1	1.000000	201	535	0	145	2		0	0	0	0	147	2	-20.000000	1	1	0	0		1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.930000	8.200000e-01	1.000000	1.000000	0.939403	0.930000	1	8.800000e-01	1
ISY1	57461	broad.mit.edu	37	3	128859253	128859253	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:128859253C>T	ENST00000393295.3	-	7	693	c.376G>A	c.(376-378)Gca>Aca	p.A126T	ISY1-RAB43_ENST00000418265.1_Missense_Mutation_p.A126T|ISY1_ENST00000393292.3_Missense_Mutation_p.A126T|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Missense_Mutation_p.A126T	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)			15					AAATCTTTTGCTGCTCCAAAG	0.368000																								0							SO:0001583	missense			ENST00000393295.3	0	1	hg19	CCDS43149.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462755	0.96257	.	.	ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163;ENST00000393292	T	0.61980	0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90111	0.4192	10	0.87932	D	0	.	17.2241	0.86964	0.0:1.0:0.0:0.0	.	126;126;126	Q9ULR0-2;Q9ULR0;Q9ULR0-1	.;ISY1_HUMAN;.	T	126;126;126;64;126	ENSP00000273541:A126T	ENSP00000273541:A126T	A	-	1	0	ISY1	130341943	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.214000	0.77958	2.663000	0.90544	0.591000	0.81541	GCA		TCGA-F2-A8YN-01A-11D-A377-08	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	0	0	0	6	733	0	131	0	2.447533e-01	0	100	0	131	2		0	0	0	0	0	2	1	0.906546	6	513	0	89	2		0	0	0	0	131	2	-2.630986	1	1	120794	1	34	1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.020000	0	0.060000	0.030000	0.032065	0.020000	0	1.000000e-02	5.000000e-02
SRPRB	58477	broad.mit.edu	37	3	133535748	133535748	+	Missense_Mutation	SNP	T	T	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:133535748T>G	ENST00000466490.2	+	7	859	c.574T>G	c.(574-576)Tta>Gta	p.L192V		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit			12					ATCAGCAAAGTTAATTCAACA	0.348000																								0							SO:0001583	missense			ENST00000466490.2	0	1	hg19	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288295	0.05605	.	.	ENSG00000144867	ENST00000466490	T	0.15487	2.42	5.48	1.59	0.23543	.	0.156463	0.41605	D	0.000858	T	0.07548	0.0190	N	0.21373	0.66	0.43091	D	0.994765	B	0.21452	0.056	B	0.25884	0.064	T	0.28933	-1.0028	10	0.02654	T	1	-8.2866	3.628	0.08120	0.1767:0.3842:0.0:0.4392	.	192	Q9Y5M8	SRPRB_HUMAN	V	192	ENSP00000418401:L192V	ENSP00000418401:L192V	L	+	1	2	SRPRB	135018438	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	0.797000	0.26999	0.389000	0.25086	-0.256000	0.11100	TTA		TCGA-F2-A8YN-01A-11D-A377-08	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2	0	0	0	7	773	0	132	1	5.457794e-01	3	185	0	132	2		0	0	0	0	0	2	1	0.979447	7	760	0	131	2		0	0	0	0	132	2	-5.211543	1	1	0	0		1	0	0	0	2.104343	0	0.570000	1.800000	0.567535	0.020000	0	0.070000	0.040000	0.035161	0.020000	0	1.000000e-02	5.000000e-02
SST	6750	broad.mit.edu	37	3	187387014	187387014	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:187387014C>T	ENST00000287641.3	-	2	297	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin			9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522000																								0							SO:0001583	missense			ENST00000287641.3	1	1	hg19	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696829	0.68386	.	.	ENSG00000157005	ENST00000287641	T	0.38401	1.14	5.51	4.64	0.57946	.	0.045481	0.85682	D	0.000000	T	0.44746	0.1308	M	0.82323	2.585	0.52099	D	0.999948	P	0.46784	0.884	B	0.41466	0.358	T	0.55897	-0.8068	10	0.87932	D	0	-17.0825	13.4703	0.61278	0.0:0.9249:0.0:0.0751	.	64	P61278	SMS_HUMAN	K	64	ENSP00000287641:E64K	ENSP00000287641:E64K	E	-	1	0	SST	188869708	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	4.650000	0.61440	1.334000	0.45468	0.305000	0.20034	GAG		TCGA-F2-A8YN-01A-11D-A377-08	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	1	0	1	177	914	0	170	0	1	0	127	0	170	2		0	0	0	0	0	2	1	1.000000	176	899	0	165	2		0	0	0	0	170	2	-20.000000	1	1	0	0		1	0	0	0	2.104343	0	0.570000	1.800000	0.567535	0.560000	4.800000e-01	0.640000	0.570000	0.567766	0.560000	0	5.200000e-01	6.100000e-01
ROBO1	6091	broad.mit.edu	37	3	78666996	78666996	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666996G>A	ENST00000464233.1	-	27	4184	c.4071C>T	c.(4069-4071)tcC>tcT	p.S1357S	ROBO1_ENST00000467549.1_Silent_p.S1257S|ROBO1_ENST00000495273.1_Silent_p.S1312S|ROBO1_ENST00000436010.2_Silent_p.S1318S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			CCCCAACACTGGAGGCAGGTG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000464233.1	1	1	hg19	CCDS54611.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	1	0	0	10	193	0	44	0	3.482191e-01	0	23	0	44	2		0	0	0	0	0	2	1	0.996948	10	191	0	43	2		0	0	0	0	44	2	-12.660950	1	1	0	0		1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.170000	8.000000e-02	0.300000	0.170000	0.186504	0.170000	0	1.200000e-01	2.400000e-01
ROBO1	6091	broad.mit.edu	37	3	78666997	78666997	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr3:78666997G>T	ENST00000464233.1	-	27	4183	c.4070C>A	c.(4069-4071)tCc>tAc	p.S1357Y	ROBO1_ENST00000467549.1_Missense_Mutation_p.S1257Y|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1312Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1318Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)			44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)			CCCAACACTGGAGGCAGGTGT	0.572000																								0							SO:0001583	missense			ENST00000464233.1	1	1	hg19	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730379	0.69074	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.72051	-0.4;-0.44;-0.47;-0.62	5.68	5.68	0.88126	.	0.101670	0.64402	D	0.000001	T	0.78375	0.4273	L	0.34521	1.04	0.80722	D	1	D;P;D;D;D	0.71674	0.997;0.956;0.998;0.988;0.996	D;P;D;P;P	0.80764	0.994;0.577;0.924;0.805;0.875	T	0.74836	-0.3529	9	.	.	.	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	1321;1357;1312;1257;1318	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Y	1318;1312;1357;1312;1257;1361	ENSP00000406043:S1318Y;ENSP00000420321:S1357Y;ENSP00000420637:S1312Y;ENSP00000417992:S1257Y	.	S	-	2	0	ROBO1	78749687	1.000000	0.71417	0.992000	0.48379	0.310000	0.27922	9.813000	0.99286	2.838000	0.97847	0.591000	0.81541	TCC		TCGA-F2-A8YN-01A-11D-A377-08	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	0	0	0	10	194	1	43	0	3.997810e-02	0	23	1	43	4		0	0	0	0	0	2	1	0.996947	10	192	0	43	2		0	0	0	1	43	2	-12.703130	1	1	0	0		1	0	0	0	2.108460	0	0.570000	1.800000	0.567535	0.170000	8.000000e-02	0.300000	0.170000	0.185602	0.170000	0	1.200000e-01	2.400000e-01
UGT2B28	54490	broad.mit.edu	37	4	70155416	70155416	+	Missense_Mutation	SNP	G	G	A	rs77927079		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:70155416G>A	ENST00000335568.5	+	4	1038	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28			31					TAAACCAGATGCCTTAGGTCT	0.373000																								0							SO:0001583	missense			ENST00000335568.5	1	0	hg19	CCDS3528.1	165	0.07554945054945054	81	0.16463414634146342	34	0.09392265193370165	10	0.017482517482517484	40	0.052770448548812667	-	0.001	-3.079173	0.00035	0.104698	0.033826	ENSG00000135226	ENST00000335568	T	0.58060	0.36	1.85	0.514	0.17007	.	0.242658	0.33127	N	0.005251	T	0.00039	0.0001	N	0.00074	-2.255	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.34576	-0.9823	10	0.02654	T	1	.	4.4177	0.11465	0.6279:0.0:0.3721:0.0	.	346	Q9BY64	UDB28_HUMAN	T	346	ENSP00000334276:A346T	ENSP00000334276:A346T	A	+	1	0	UGT2B28	70190005	0.000000	0.05858	0.487000	0.27428	0.008000	0.06430	0.824000	0.27379	-0.005000	0.14395	-1.499000	0.00960	GCC		TCGA-F2-A8YN-01A-11D-A377-08	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	0	0	1	44	299	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	41	278	0	76	2		0	0	0	0	76	2	-0.876799	0	1	120308	8893	64	1	0	0	0	2.102662	0	0.570000	1.800000	0.567535	0.440000	3.300000e-01	0.570000	0.450000	0.454048	0.440000	0	3.800000e-01	5.100000e-01
ALB	213	broad.mit.edu	37	4	74275113	74275113	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr4:74275113C>T	ENST00000503124.1	+	3	281	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ALB_ENST00000401494.3_Missense_Mutation_p.A60V|ALB_ENST00000509063.1_Missense_Mutation_p.A175V|ALB_ENST00000415165.2_Intron|ALB_ENST00000295897.4_Missense_Mutation_p.A175V|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin			48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		TACTTTTATGCCCCGGAACTC	0.353000																								0							SO:0001583	missense			ENST00000503124.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	14.99	2.699939	0.48307	.	.	ENSG00000163631	ENST00000441319;ENST00000295897;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.55	-0.616	0.11583	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.472937	0.21303	N	0.076761	T	0.82061	0.4955	M	0.68593	2.085	0.37386	D	0.912251	D;P;B;P	0.71674	0.998;0.914;0.39;0.726	D;B;B;B	0.67103	0.949;0.146;0.049;0.075	D	0.85061	0.0934	10	0.72032	D	0.01	-5.329	21.3573	0.99952	0.0:0.3196:0.6804:0.0	.	60;25;175;175	B7WNR0;D6RHD5;A6NBZ8;P02768	.;.;.;ALBU_HUMAN	V	177;175;25;175;60;184	ENSP00000392541:A177V;ENSP00000295897:A175V;ENSP00000421027:A25V;ENSP00000422784:A175V;ENSP00000384695:A60V	ENSP00000295897:A175V	A	+	2	0	ALB	74493977	0.924000	0.31332	0.958000	0.39756	0.913000	0.54294	0.021000	0.13489	-0.357000	0.08175	-0.282000	0.10007	GCC		TCGA-F2-A8YN-01A-11D-A377-08	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	0	0	0	5	530	0	120	0	4.278587e-02	0	28	0	120	2		0	0	0	0	0	2	1	0.937808	7	528	0	118	2		0	0	0	0	120	2	-2.206329	0	1	0	0		1	0	0	0	2.102662	0	0.570000	1.800000	0.567535	0.030000	0	0.070000	0.040000	0.038457	0.030000	0	1.000000e-02	6.000000e-02
SNCAIP	9627	broad.mit.edu	37	5	121776408	121776408	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:121776408G>A	ENST00000261368.8	+	7	1643	c.1381G>A	c.(1381-1383)Gtt>Att	p.V461I	SNCAIP_ENST00000503116.2_Missense_Mutation_p.V508I|SNCAIP_ENST00000261367.7_Missense_Mutation_p.V508I|SNCAIP_ENST00000379538.3_Missense_Mutation_p.V95I|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.V508I|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.V19I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.V401I|SNCAIP_ENST00000414317.2_Missense_Mutation_p.V63I	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein			39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		CAACAGTGCCGTTCACGTAGC	0.428000																								0							SO:0001583	missense			ENST00000261368.8	0	1	hg19	CCDS4131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.95	2.689844	0.48097	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854;ENST00000503116	T;T;T;T;T;T;T;T;T	0.63913	-0.03;0.71;0.71;0.71;0.71;1.48;0.71;1.48;-0.07	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.124143	0.53938	D	0.000052	T	0.66479	0.2793	N	0.13327	0.33	0.54753	D	0.999981	B;P;P;P;D;B;D;P;D	0.89917	0.381;0.947;0.924;0.853;0.999;0.236;1.0;0.953;1.0	B;P;B;B;D;B;D;B;D	0.70487	0.117;0.5;0.32;0.444;0.917;0.016;0.947;0.382;0.969	T	0.71031	-0.4710	10	0.54805	T	0.06	-17.0364	18.9919	0.92796	0.0:0.0:1.0:0.0	.	401;89;63;508;401;95;95;508;461	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-6;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;.;SNCAP_HUMAN	I	19;401;461;508;401;95;508;63;101;508	ENSP00000441681:V19I;ENSP00000422106:V401I;ENSP00000261368:V461I;ENSP00000368848:V508I;ENSP00000368851:V401I;ENSP00000368854:V95I;ENSP00000261367:V508I;ENSP00000394392:V63I;ENSP00000423199:V508I	ENSP00000261367:V508I	V	+	1	0	SNCAIP	121804307	1.000000	0.71417	0.159000	0.22649	0.060000	0.15804	9.178000	0.94855	2.721000	0.93114	0.655000	0.94253	GTT		TCGA-F2-A8YN-01A-11D-A377-08	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1	0	0	0	5	491	0	80	0	1.636768e-03	0	5	0	80	2		0	0	0	0	0	2	1	0.936834	5	488	0	79	2		0	0	0	0	80	2	-2.254108	0	1	121412	4	38	1	0	0	0	2.116258	0	0.570000	1.800000	0.570000	0.030000	0	0.080000	0.040000	0.041832	0.030000	0	1.000000e-02	6.000000e-02
PCDHB6	56130	broad.mit.edu	37	5	140530477	140530477	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140530477G>A	ENST00000231136.1	+	1	639	c.639G>A	c.(637-639)gcG>gcA	p.A213A	PCDHB6_ENST00000543635.1_Silent_p.A77A	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6			84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CGCTGATCGCGCTGGATGGCG	0.602000																								0							SO:0001819	synonymous_variant			ENST00000231136.1	1	1	hg19	CCDS4248.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	1	0	1	90	202	0	91	0	7.574151e-01	0	8	0	91	2		0	0	0	0	0	2	1	1.000000	87	198	0	91	2		0	0	0	0	91	2	-20.000000	1	1	0	0		1	0	0	0	2.116258	0	0.570000	1.800000	0.570000	0.990000	8.900000e-01	1.000000	1.000000	0.990541	0.990000	1	9.800000e-01	1
PCDHGA10	56106	broad.mit.edu	37	5	140795043	140795043	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:140795043G>A	ENST00000398610.2	+	1	2301	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10			43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCGCGGACTCGCGAAAGAGTC	0.562000																								0							SO:0001819	synonymous_variant			ENST00000398610.2	1	1	hg19	CCDS47292.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	1	0	1	141	654	0	121	0	6.074038e-01	0	11	0	121	2		0	0	0	0	0	2	1	1.000000	139	645	0	119	2		0	0	0	0	121	2	-20.000000	1	1	121412	1	33	1	0	0	0	2.116258	0	0.570000	1.800000	0.570000	0.610000	5.200000e-01	0.710000	0.620000	0.624551	0.610000	0	5.700000e-01	6.700000e-01
RMND5B	64777	broad.mit.edu	37	5	177574596	177574596	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:177574596G>A	ENST00000515098.1	+	10	1274	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	RMND5B_ENST00000542098.1_Missense_Mutation_p.R295Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.R308Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)			17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		ATTGAGCAGCGGCAGTGCACT	0.577000																								0							SO:0001583	missense			ENST00000515098.1	1	1	hg19	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360506	0.95877	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.964;0.984;0.975	T	0.75897	-0.3155	9	0.38643	T	0.18	-25.4369	17.5078	0.87750	0.0:0.0:1.0:0.0	.	295;295;308	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	Q	308;308;295	.	ENSP00000320623:R308Q	R	+	2	0	RMND5B	177507202	1.000000	0.71417	0.998000	0.56505	0.786000	0.44442	9.602000	0.98312	2.724000	0.93272	0.563000	0.77884	CGG		TCGA-F2-A8YN-01A-11D-A377-08	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	1	0	1	41	136	0	31	1	9.999993e-01	26	52	0	31	2		0	0	0	0	0	2	1	1.000000	41	132	0	31	2		0	0	0	0	31	2	-4.090996	1	1	121412	1	34	1	0	0	0	2.116258	0	0.570000	1.800000	0.570000	0.800000	6.000000e-01	1.000000	1.000000	0.816831	0.800000	0	7.000000e-01	9.300000e-01
C9	735	broad.mit.edu	37	5	39331865	39331865	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr5:39331865G>C	ENST00000263408.4	-	5	623	c.528C>G	c.(526-528)ttC>ttG	p.F176L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9			32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)		GTCCATTGTAGAACTCATTGT	0.438000																								0							SO:0001583	missense			ENST00000263408.4	1	1	hg19	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205577	0.58234	.	.	ENSG00000113600	ENST00000263408	T	0.33438	1.41	5.72	4.74	0.60224	Membrane attack complex component/perforin (MACPF) domain (1);	0.573755	0.19914	N	0.103230	T	0.22551	0.0544	L	0.45581	1.43	0.41407	D	0.987719	P	0.42456	0.78	B	0.38106	0.265	T	0.02909	-1.1095	10	0.37606	T	0.19	-8.041	4.5426	0.12066	0.2863:0.0:0.7137:0.0	.	176	P02748	CO9_HUMAN	L	176	ENSP00000263408:F176L	ENSP00000263408:F176L	F	-	3	2	C9	39367622	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.003000	0.49505	2.709000	0.92574	0.561000	0.74099	TTC		TCGA-F2-A8YN-01A-11D-A377-08	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3	1	0	0	36	511	0	104		0	0	0	0	104	2		0	0	0	0	0	2	1	1.000000	35	508	0	104	2		0	0	0	0	104	2	-7.762589	1	1	0	0		1	0	1	1	2.112614	0	0.570000	1.800000	0.568771	0.220000	1.600000e-01	0.310000	0.230000	0.235475	0.220000	0	1.900000e-01	2.700000e-01
CD164	8763	broad.mit.edu	37	6	109690132	109690132	+	Silent	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:109690132C>T	ENST00000310786.4	-	6	581	c.516G>A	c.(514-516)ctG>ctA	p.L172L	CD164_ENST00000368961.5_Silent_p.L140L|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000324953.5_Silent_p.L153L|CD164_ENST00000413644.2_Silent_p.L172L|CD164_ENST00000512821.1_Intron|CD164_ENST00000504373.1_Silent_p.L138L|CD164_ENST00000275080.7_Silent_p.L159L	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin			3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)			CACCCAAGACCAGGACAATTC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000310786.4	1	1	hg19	CCDS5073.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	1	0	1	138	112	0	56	1	1	820	84	0	56	2		0	0	0	0	0	2	1	1.000000	136	108	0	55	2		0	0	0	0	56	2	-20.000000	1	1	0	0		1	0	2	2	2.108549	1	0.570000	1.800000	0.570000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LAMA4	3910	broad.mit.edu	37	6	112460431	112460431	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:112460431G>A	ENST00000230538.7	-	24	3570	c.3173C>T	c.(3172-3174)gCc>gTc	p.A1058V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A1051V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A1051V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A1051V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4			100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)			TCTCACCACGGCATAACCGGA	0.488000																								0							SO:0001583	missense			ENST00000230538.7	0	1	hg19	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180380	0.57800	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.092613	0.85682	D	0.000000	D	0.86360	0.5914	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.972;0.988	D	0.86224	0.1633	10	0.87932	D	0	.	20.4434	0.99119	0.0:0.0:1.0:0.0	.	1058;1051	Q16363;Q16363-2	LAMA4_HUMAN;.	V	1058;1051;1051;1051	ENSP00000230538:A1058V;ENSP00000429488:A1051V;ENSP00000374114:A1051V;ENSP00000416470:A1051V	ENSP00000230538:A1058V	A	-	2	0	LAMA4	112567124	1.000000	0.71417	0.889000	0.34880	0.034000	0.12701	4.986000	0.63851	2.838000	0.97847	0.655000	0.94253	GCC		TCGA-F2-A8YN-01A-11D-A377-08	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	0	0	0	5	397	0	87	0	2.417771e-01	0	63	0	87	2		0	0	0	0	0	2	1	0.934988	5	390	0	85	2		0	0	0	0	87	2	-1.820661	0	1	0	0		1	0	1	1	1.491063	1	0.570000	1.800000	0.398601	0.030000	0	0.070000	0.030000	0.037108	0.030000	0	1.000000e-02	5.000000e-02
OLIG3	167826	broad.mit.edu	37	6	137815036	137815036	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:137815036C>T	ENST00000367734.2	-	1	495	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3			11	Breast(32;0.165)|Colorectal(23;0.24)				CTTGCGTTCGCGTCCGTTGAT	0.617000																								0							SO:0001583	missense			ENST00000367734.2	1	1	hg19	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044310	0.75732	.	.	ENSG00000177468	ENST00000367734	T	0.73789	-0.78	5.44	4.57	0.56435	Helix-loop-helix DNA-binding (5);	0.069292	0.53938	D	0.000052	D	0.88262	0.6389	H	0.96239	3.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.91956	0.5575	10	0.87932	D	0	-1.623	14.2214	0.65830	0.0:0.9275:0.0:0.0725	.	91	Q7RTU3	OLIG3_HUMAN	H	91	ENSP00000356708:R91H	ENSP00000356708:R91H	R	-	2	0	OLIG3	137856729	1.000000	0.71417	0.706000	0.30403	0.994000	0.84299	6.087000	0.71362	1.287000	0.44583	0.591000	0.81541	CGC		TCGA-F2-A8YN-01A-11D-A377-08	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	1	0	1	78	486	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	77	477	0	84	2		0	0	0	0	86	2	-3.142736	1	1	0	0		1						0.570000	1.800000									0	0
STX11	8676	broad.mit.edu	37	6	144507954	144507954	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:144507954C>T	ENST00000367568.4	+	2	373	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11			12					CGACGTGAAGCGGCTGGGAAA	0.622000									Familial Hemophagocytic Lymphohistiocytosis															0							SO:0001583	missense	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	ENST00000367568.4	0	1	hg19	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830098	0.50845	.	.	ENSG00000135604	ENST00000367568	T	0.18960	2.18	5.99	5.99	0.97316	t-SNARE (1);Syntaxin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.83603	2.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.41645	-0.9497	10	0.87932	D	0	-32.9952	15.6832	0.77388	0.1375:0.8624:0.0:0.0	.	64	O75558	STX11_HUMAN	W	64	ENSP00000356540:R64W	ENSP00000356540:R64W	R	+	1	2	STX11	144549647	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	2.859000	0.48364	2.840000	0.97914	0.655000	0.94253	CGG		TCGA-F2-A8YN-01A-11D-A377-08	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1	1	0	0	11	135	0	23	0	5.849294e-02	0	5	0	23	2		0	0	0	0	0	2	1	0.998424	11	133	0	23	2		0	0	0	0	23	2	-16.054450	1	1	0	0		1	0	2	2	2.114676	1	0.570000	1.800000	0.570000	0.270000	1.400000e-01	1.000000	0.260000	0.316693	0.270000	0	2.000000e-01	3.800000e-01
BTN2A2	10385	broad.mit.edu	37	6	26390289	26390289	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:26390289G>A	ENST00000356709.4	+	5	892	c.781G>A	c.(781-783)Gca>Aca	p.A261T	BTN2A2_ENST00000352867.2_Missense_Mutation_p.A145T|BTN2A2_ENST00000416795.2_Missense_Mutation_p.A261T|BTN2A2_ENST00000469230.1_Missense_Mutation_p.A261T|BTN2A2_ENST00000482536.1_Missense_Mutation_p.A51T|BTN2A2_ENST00000432533.2_Missense_Mutation_p.A167T	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2			23					CATCCTGACCGCATCTCCCTG	0.463000																								0							SO:0001583	missense			ENST00000356709.4	0	1	hg19	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	.	4.517	0.095872	0.08681	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000482842;ENST00000416795;ENST00000483410	T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B;B	0.25007	0.0;0.0;0.116;0.105;0.003;0.0;0.0	B;B;B;B;B;B;B	0.17433	0.0;0.0;0.015;0.018;0.001;0.0;0.0	T	0.40384	-0.9566	9	0.46703	T	0.11	.	5.0603	0.14553	0.248:0.0:0.4881:0.2639	.	51;51;167;145;261;145;261	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	T	261;56;261;145;51;167;56;261;145	ENSP00000417472:A261T;ENSP00000418965:A56T;ENSP00000349143:A261T;ENSP00000337117:A145T;ENSP00000419451:A51T;ENSP00000394241:A167T;ENSP00000417676:A56T;ENSP00000399308:A261T;ENSP00000418176:A145T	ENSP00000337117:A145T	A	+	1	0	BTN2A2	26498268	0.006000	0.16342	0.000000	0.03702	0.059000	0.15707	-0.039000	0.12124	-2.050000	0.00905	-0.600000	0.04104	GCA		TCGA-F2-A8YN-01A-11D-A377-08	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1	0	0	0	5	509	0	114	0	7.867875e-03	0	11	0	114	2		0	0	0	0	0	2	1	0.936859	5	507	0	114	2		0	0	0	0	114	2	-1.951449	0	1	0	0		1	0	1	1	1.521508	1	0.570000	1.800000	0.398601	0.020000	0	0.050000	0.030000	0.029048	0.020000	0	1.000000e-02	4.000000e-02
CFB	629	broad.mit.edu	37	6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	rs150398964		TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:31917095G>A	ENST00000425368.2	+	9	1757	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	CFB_ENST00000456570.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H|CFB_ENST00000556679.1_Missense_Mutation_p.R917H	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	p.R415H(1)		21					GGCAAGGATCGCAAAAACCCA	0.522000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000425368.2	0	1	hg19	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.19|11.19	1.566586|1.566586	0.28003|0.28003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000243649|ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000483004|ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.|T;T;T;T	.|0.78003	.|-1.14;-1.14;-1.14;-1.14	5.95|5.95	0.899|0.899	0.19271|0.19271	.|von Willebrand factor, type A (3);	.|0.469789	.|0.20245	.|N	.|0.096201	T|T	0.51618|0.51618	0.1685|0.1685	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30361	.|0.277;0.021;0.02	.|B;B;B	.|0.19391	.|0.025;0.005;0.003	T|T	0.43507|0.43507	-0.9387|-0.9387	5|10	.|0.37606	.|T	.|0.19	-10.0671|-10.0671	4.8511|4.8511	0.13537|0.13537	0.3017:0.2701:0.4282:0.0|0.3017:0.2701:0.4282:0.0	.|.	.|917;415;415	.|B4E1Z4;P00751;P00751-2	.|.;CFAB_HUMAN;.	T|H	28|917;415;917;766	.|ENSP00000451848:R917H;ENSP00000416561:R415H;ENSP00000410815:R917H;ENSP00000418996:R766H	.|ENSP00000416561:R415H	A|R	+|+	1|2	0|0	CFB|CFB;XXbac-BPG116M5.17	32025074|32025074	0.000000|0.000000	0.05858|0.05858	0.886000|0.886000	0.34754|0.34754	0.262000|0.262000	0.26303|0.26303	-0.106000|-0.106000	0.10890|0.10890	0.127000|0.127000	0.18452|0.18452	-0.119000|-0.119000	0.15052|0.15052	GCA|CGC		TCGA-F2-A8YN-01A-11D-A377-08	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	0	0	0	4	314	0	43	1	9.968412e-01	2	1063	0	43	2		0	0	0	0	0	2	1	0.887263	4	311	0	43	2		0	0	0	0	43	2	-2.316912	0	1	121412	2	30	1	1	2	3	2.739861	1	0.570000	1.800000	0.665370	0.060000	0	0.140000	0.060000	0.069904	0.060000	0	3.000000e-02	1.000000e-01
TNXB	7148	broad.mit.edu	37	6	32017099	32017099	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:32017099G>A	ENST00000375244.3	-	28	9906	c.9705C>T	c.(9703-9705)taC>taT	p.Y3235Y	TNXB_ENST00000375247.2_Silent_p.Y3233Y			P22105	TENX_HUMAN	tenascin XB			8					CGTGGAGGCCGTACAGATGCA	0.697000																								0							SO:0001819	synonymous_variant			ENST00000375244.3	1	1	hg19																																																																																					TCGA-F2-A8YN-01A-11D-A377-08	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	0	0	11	342	0	37	0	3.606304e-03	0	3	0	37	2		0	0	0	0	0	2	1	0.998089	10	332	0	37	2		0	0	0	0	37	2	-2.910188	1	1	0	0		1	1	3	4	2.730959	1	0.570000	1.800000	0.671204	0.160000	7.000000e-02	1.000000	0.150000	0.358473	0.160000	0	1.100000e-01	1
FUT9	10690	broad.mit.edu	37	6	96651947	96651947	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr6:96651947G>A	ENST00000302103.5	+	3	1242	c.916G>A	c.(916-918)Gac>Aac	p.D306N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)			34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)			GAAGGAAGTCGACAAAAACAA	0.368000													Melanoma(98;1369 1476 6592 22940 26587)											0							SO:0001583	missense			ENST00000302103.5	1	1	hg19	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466121	0.63625	0.0	1.16E-4	ENSG00000172461	ENST00000302103	T	0.29142	1.58	5.5	5.5	0.81552	.	0.045414	0.85682	D	0.000000	T	0.29423	0.0733	M	0.65975	2.015	0.58432	D	0.999995	P	0.47762	0.9	P	0.48304	0.573	T	0.08472	-1.0720	10	0.59425	D	0.04	-18.0675	11.7939	0.52088	0.0799:0.0:0.9201:0.0	.	306	Q9Y231	FUT9_HUMAN	N	306	ENSP00000302599:D306N	ENSP00000302599:D306N	D	+	1	0	FUT9	96758668	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.690000	0.84178	2.586000	0.87340	0.467000	0.42956	GAC		TCGA-F2-A8YN-01A-11D-A377-08	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	1	0	0	95	161	0	94	0	0	1	0	0	94	2		0	0	0	0	0	2	1	1.000000	92	160	0	94	2		0	0	0	0	94	2	-20.000000	1	1	121214	3	37	1	0	1	1	1.500843	1	0.570000	1.800000	0.398601	0.900000	7.700000e-01	1.000000	0.930000	0.906110	0.900000	1	8.400000e-01	9.700000e-01
PDE1C	5137	broad.mit.edu	37	7	32109952	32109952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:32109952G>T	ENST00000396191.1	-	1	509	c.54C>A	c.(52-54)taC>taA	p.Y18*	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.Y18*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.Y18*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa			81			GBM - Glioblastoma multiforme(11;0.216)	Caffeine(DB00201)	CCGGTTGCAGGTATTTCAGAG	0.502000																								0							SO:0001587	stop_gained			ENST00000396191.1	0	1	hg19	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202601	0.97371	.	.	ENSG00000154678	ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182;ENST00000396189	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7686	0.51945	0.0813:0.0:0.9187:0.0	.	.	.	.	X	18	.	ENSP00000318105:Y18X	Y	-	3	2	PDE1C	32076477	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	5.373000	0.66162	2.706000	0.92434	0.655000	0.94253	TAC		TCGA-F2-A8YN-01A-11D-A377-08	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1	0	0	0	10	544	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.996630	10	534	0	85	2		0	0	0	0	88	2	-8.052445	1	1	0	0		1	0	0	0	2.119234	0	0.570000	1.800000	0.570000	0.060000	2.000000e-02	0.110000	0.060000	0.069293	0.060000	0	4.000000e-02	9.000000e-02
SFRP4	6424	broad.mit.edu	37	7	37956044	37956044	+	Silent	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:37956044G>A	ENST00000436072.2	-	1	473	c.96C>T	c.(94-96)tgC>tgT	p.C32C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4			29					GCATGTGCCGGCACATAGGGA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000436072.2	0	1	hg19	CCDS5453.1																																																																																				TCGA-F2-A8YN-01A-11D-A377-08	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	0	0	0	5	309	0	37	0	4.583301e-01	0	85	0	37	2		0	0	0	0	0	2	1	0.936976	5	307	0	37	2		0	0	0	0	37	2	-2.825972	1	1	0	0		1	0	0	0	2.119234	0	0.570000	1.800000	0.570000	0.050000	1.000000e-02	0.120000	0.060000	0.066426	0.050000	0	3.000000e-02	9.000000e-02
STARD3NL	83930	broad.mit.edu	37	7	38256892	38256892	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:38256892C>G	ENST00000009041.7	+	6	796	c.539C>G	c.(538-540)gCa>gGa	p.A180G	STARD3NL_ENST00000434197.1_Missense_Mutation_p.A162G|STARD3NL_ENST00000544203.1_Missense_Mutation_p.A173G|STARD3NL_ENST00000396013.1_Missense_Mutation_p.A180G	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like			10					CCTCAAGAAGCAGAAGAAGAA	0.483000																								0							SO:0001583	missense			ENST00000009041.7	0	1	hg19	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124761	0.77436	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000429075	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.93	5.93	0.95920	MENTAL domain (2);	0.150508	0.64402	D	0.000016	T	0.67951	0.2948	M	0.75447	2.3	0.50467	D	0.999874	P;P	0.52692	0.955;0.955	P;P	0.60236	0.871;0.843	T	0.67730	-0.5595	10	0.56958	D	0.05	-9.1947	19.1254	0.93380	0.0:1.0:0.0:0.0	.	162;180	C9JKL2;O95772	.;MENTO_HUMAN	G	180;173;162;180;180;180	ENSP00000009041:A180G;ENSP00000439436:A173G;ENSP00000394000:A162G;ENSP00000379334:A180G;ENSP00000411933:A180G;ENSP00000402028:A180G	ENSP00000009041:A180G	A	+	2	0	STARD3NL	38223417	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.826000	0.97356	0.655000	0.94253	GCA		TCGA-F2-A8YN-01A-11D-A377-08	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2	0	0	0	8	444	0	126	1	5.654769e-01	2	98	0	126	2		0	0	0	0	0	2	1	0.988910	7	439	0	126	2		0	0	0	0	126	2	-3.175415	1	1	0	0		1	0	0	0	2.119234	0	0.570000	1.800000	0.570000	0.060000	2.000000e-02	0.120000	0.060000	0.069436	0.060000	0	4.000000e-02	9.000000e-02
FKBP6	8468	broad.mit.edu	37	7	72754662	72754662	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr7:72754662G>A	ENST00000252037.4	+	6	680	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000413573.2_Missense_Mutation_p.R174Q|FKBP6_ENST00000431982.2_Missense_Mutation_p.R199Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa			16		Lung NSC(55;0.0908)|all_lung(88;0.198)			CTGCGCCGGCGATCAGCACCC	0.537000																								0							SO:0001583	missense			ENST00000252037.4	1	1	hg19	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	8.847	0.943556	0.18281	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.73897	-0.79;0.51;-0.79;-0.79	4.91	4.02	0.46733	Tetratricopeptide-like helical (1);	0.285857	0.32055	N	0.006641	T	0.50051	0.1593	N	0.21448	0.665	0.09310	N	0.999998	P;B;B	0.37864	0.61;0.185;0.287	B;B;B	0.25140	0.058;0.02;0.047	T	0.39165	-0.9627	10	0.15499	T	0.54	-10.6094	8.5323	0.33342	0.1717:0.0:0.8283:0.0	.	199;204;174	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	Q	199;159;174;204	ENSP00000416277:R199Q;ENSP00000402360:R159Q;ENSP00000394952:R174Q;ENSP00000252037:R204Q	ENSP00000252037:R204Q	R	+	2	0	FKBP6	72392598	0.532000	0.26346	0.135000	0.22099	0.007000	0.05969	4.204000	0.58460	2.284000	0.76573	0.563000	0.77884	CGA		TCGA-F2-A8YN-01A-11D-A377-08	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	0	0	0	9	291	0	35		0	0	0	0	35	2		0	0	0	0	0	2	1	0.994051	9	288	0	35	2		0	0	0	0	35	2	-9.527086	1	1	120896	1	31	1	0	0	0	2.119234	0	0.570000	1.800000	0.570000	0.100000	4.000000e-02	0.190000	0.100000	0.115875	0.100000	0	7.000000e-02	1.500000e-01
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1			57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)				GAAGGGCTGGCGGGCCACGGG	0.632000																								0							SO:0001583	missense			ENST00000517894.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419482	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28666	1.6;1.6	4.65	1.7	0.24286	.	0.070341	0.53938	U	0.000049	T	0.44767	0.1309	L	0.61218	1.895	0.50632	D	0.999889	D	0.89917	1.0	D	0.65987	0.94	T	0.28839	-1.0031	10	0.87932	D	0	.	7.1912	0.25826	0.5489:0.3668:0.0:0.0842	.	792	E9PBK0	.	W	792	ENSP00000430945:R792W;ENSP00000313046:R792W	ENSP00000313046:R792W	R	+	1	2	BAI1	143566792	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	0.764000	0.26532	0.107000	0.17824	0.313000	0.20887	CGG		TCGA-F2-A8YN-01A-11D-A377-08	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	0	0	0	6	470	0	71	0	0	0	1	0	71	2		0	0	0	0	0	2	1	0.959736	6	448	0	67	2		0	0	0	0	71	2	-2.084747	0	1	0	0		1	0	0	0	2.116021	0	0.570000	1.800000	0.570000	0.040000	0	0.090000	0.040000	0.051271	0.040000	0	2.000000e-02	7.000000e-02
CSPP1	79848	broad.mit.edu	37	8	68015300	68015300	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr8:68015300C>T	ENST00000262210.5	+	7	1010	c.979C>T	c.(979-981)Cct>Tct	p.P327S	CSPP1_ENST00000412460.1_Missense_Mutation_p.P33S	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1			49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		AGGGAATATGCCTCCTATGGA	0.348000																								0							SO:0001583	missense			ENST00000262210.5	0	1	hg19	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886309	0.33348	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.31769	1.48;1.48;1.48	5.04	3.2	0.36748	.	0.298091	0.27388	N	0.019590	T	0.42675	0.1213	L	0.45581	1.43	0.19775	N	0.999954	D;P;P;P	0.71674	0.998;0.927;0.846;0.846	D;P;P;P	0.72625	0.978;0.585;0.605;0.753	T	0.12243	-1.0555	10	0.44086	T	0.13	-3.3434	8.1653	0.31222	0.0:0.8142:0.0:0.1858	.	33;327;362;362	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	S	327;362;33;33	ENSP00000262210:P327S;ENSP00000415782:P33S;ENSP00000430092:P33S	ENSP00000262210:P327S	P	+	1	0	CSPP1	68177854	0.272000	0.24172	0.560000	0.28344	0.091000	0.18340	1.084000	0.30828	0.791000	0.33826	0.655000	0.94253	CCT		TCGA-F2-A8YN-01A-11D-A377-08	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	0	0	0	4	232	0	41	0	1.658614e-02	0	9	0	41	2		0	0	0	0	0	2	1	0.890131	4	231	0	41	2		0	0	0	0	41	2	-3.012819	1	1	0	0		1	0	0	0	2.116021	0	0.570000	1.800000	0.570000	0.060000	1.000000e-02	0.140000	0.060000	0.073404	0.060000	0	3.000000e-02	1.000000e-01
SUSD1	64420	broad.mit.edu	37	9	114904607	114904607	+	Silent	SNP	A	A	G			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:114904607A>G	ENST00000374270.3	-	5	871	c.699T>C	c.(697-699)caT>caC	p.H233H	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Silent_p.H233H|SUSD1_ENST00000374264.2_Silent_p.H233H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	p.H233H(1)	SUSD1/ROD1(2)	28					CACCTTGGCAATGTAATTTTG	0.408000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000374270.3	1	1	hg19	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	A	7.504	0.653217	0.14580	.	.	ENSG00000106868	ENST00000415074	.	.	.	5.66	0.0291	0.14161	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	-0.156	4.204	0.10480	0.3829:0.0:0.3733:0.2438	.	.	.	.	T	47	.	.	I	-	2	0	SUSD1	113944428	0.000000	0.05858	0.515000	0.27774	0.950000	0.60333	-0.799000	0.04560	0.126000	0.18424	0.528000	0.53228	ATT		TCGA-F2-A8YN-01A-11D-A377-08	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1	192	506	0	155	1	9.750929e-01	5	13	0	155	2		0	0	0	0	0	2	1	1.000000	190	496	0	154	2		0	0	0	0	155	2	-20.000000	1	1	121412	1	38	1	0	0	0	2.093051	0	0.570000	1.800000	0.565041	0.940000	8.300000e-01	1.000000	1.000000	0.947543	0.940000	1	8.900000e-01	1
PTCH1	5727	broad.mit.edu	37	9	98244279	98244279	+	Missense_Mutation	SNP	T	T	C			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chr9:98244279T>C	ENST00000331920.6	-	5	997	c.698A>G	c.(697-699)gAc>gGc	p.D233G	PTCH1_ENST00000430669.2_Missense_Mutation_p.D167G|PTCH1_ENST00000437951.1_Missense_Mutation_p.D167G|PTCH1_ENST00000421141.1_Missense_Mutation_p.D82G|PTCH1_ENST00000429896.2_Missense_Mutation_p.D82G|PTCH1_ENST00000418258.1_Missense_Mutation_p.D82G|PTCH1_ENST00000468211.2_Missense_Mutation_p.D167G|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000375274.2_Missense_Mutation_p.D232G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1			490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)			CCAGAAGCAGTCCAAAGGTGT	0.433000																								0							SO:0001583	missense			ENST00000331920.6	1	1	hg19	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172541	0.78452	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000553011;ENST00000551845;ENST00000547672;ENST00000546820;ENST00000468211;ENST00000551630	D;D;D;D;D;D;D;D;D;D;D;D;D	0.98958	-5.21;-5.13;-5.03;-5.03;-5.13;-5.03;-5.27;-3.3;-3.3;-3.3;-3.3;-3.67;-2.88	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99305	1.0902	10	0.72032	D	0.01	-38.4377	16.4608	0.84044	0.0:0.0:0.0:1.0	.	167;232;233	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	G	233;167;82;82;167;82;232;82;82;82;82;167;82	ENSP00000332353:D233G;ENSP00000389744:D167G;ENSP00000399981:D82G;ENSP00000396135:D82G;ENSP00000410287:D167G;ENSP00000414823:D82G;ENSP00000364423:D232G;ENSP00000447797:D82G;ENSP00000447008:D82G;ENSP00000447878:D82G;ENSP00000448843:D82G;ENSP00000449745:D167G;ENSP00000450131:D82G	ENSP00000332353:D233G	D	-	2	0	PTCH1	97284100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.288000	0.76882	0.533000	0.62120	GAC		TCGA-F2-A8YN-01A-11D-A377-08	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	1	0	1	68	200	0	49	0	6.431038e-01	1	7	0	49	2		0	0	0	0	0	2	1	1.000000	66	198	0	48	2		0	0	0	0	49	2	-20.000000	1	1	0	0		1	0	0	0	2.093051	0	0.570000	1.800000	0.565041	0.870000	7.000000e-01	1.000000	1.000000	0.878946	0.870000	1	7.800000e-01	9.700000e-01
IRS4	8471	broad.mit.edu	37	X	107976904	107976904	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:107976904G>A	ENST00000372129.2	-	1	2747	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4			78					AAAGAAAGTCGGTTAGGTCTC	0.443000																								0							SO:0001587	stop_gained			ENST00000372129.2	0	1	hg19	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715445	0.89112	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.2	0.841	0.18918	.	1.187410	0.06301	N	0.701010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1902	9.9723	0.41761	0.0:0.0905:0.3551:0.5544	.	.	.	.	X	891	.	ENSP00000361202:R891X	R	-	1	2	IRS4	107863560	0.027000	0.19231	0.001000	0.08648	0.010000	0.07245	0.452000	0.21795	0.138000	0.18790	-0.324000	0.08512	CGA		TCGA-F2-A8YN-01A-11D-A377-08	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	0	0	8	697	0	162		0	0	0	0	162	2		0	0	0	0	0	2	1	0.988972	8	690	0	161	2		0	0	0	0	162	2	-2.069861	0	1	0	0		1	0	1	1			0.570000	1.800000	0.570000	0.010000	0	0.040000	0.020000	0.022383	0.010000	0	0	3.000000e-02
HTR2C	3358	broad.mit.edu	37	X	114141599	114141599	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:114141599T>A	ENST00000276198.1	+	6	1726	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.L333Q	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled			50				Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACCAATATTCTGTCTGTTCTT	0.383000																								0							SO:0001583	missense			ENST00000276198.1	1	1	hg19	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547060	0.45383	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.44482	0.92;0.92	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.389101	0.26089	N	0.026406	T	0.69904	0.3163	M	0.93720	3.45	0.80722	D	1	D	0.58620	0.983	D	0.63703	0.917	T	0.77851	-0.2434	10	0.72032	D	0.01	.	12.0835	0.53684	0.0:0.0:0.0:1.0	.	333	P28335	5HT2C_HUMAN	Q	333	ENSP00000276198:L333Q;ENSP00000361019:L333Q	ENSP00000276198:L333Q	L	+	2	0	HTR2C	114047855	1.000000	0.71417	0.996000	0.52242	0.595000	0.36748	5.039000	0.64185	1.827000	0.53221	0.381000	0.24937	CTG		TCGA-F2-A8YN-01A-11D-A377-08	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	1	0	1	144	264	0	93		0	0	0	0	93	2		0	0	0	0	0	2	1	1.000000	144	265	0	92	2		0	0	0	0	93	2	-20.000000	1	1	0	0		1	0	1	1			0.570000	1.800000	0.570000	0.610000	5.300000e-01	0.700000	0.620000	0.619312	0.610000	0	5.700000e-01	6.600000e-01
SLC25A6	293	broad.mit.edu	37	X	1508553	1508553	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:1508553C>T	ENST00000381401.5	-	2	893	c.179G>A	c.(178-180)cGc>cAc	p.R60H	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6			11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)		Clodronate(DB00720)	CTTGGGGATGCGGACAATGCA	0.607000																								0							SO:0001583	missense			ENST00000381401.5	0	1	hg19	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	11.91	1.779028	0.31502	.	.	ENSG00000169100	ENST00000381401;ENST00000447786	T	0.79653	-1.29	1.69	0.758	0.18432	Mitochondrial carrier domain (2);	0.119084	0.30850	U	0.008748	T	0.75838	0.3904	M	0.74546	2.27	0.09310	N	1	P	0.48503	0.911	B	0.40534	0.332	T	0.69124	-0.5228	10	0.72032	D	0.01	.	8.0252	0.30434	0.0:0.8621:0.0:0.1379	.	60	P12236	ADT3_HUMAN	H	60	ENSP00000370808:R60H	ENSP00000370808:R60H	R	-	2	0	SLC25A6	1468553	0.998000	0.40836	0.656000	0.29637	0.231000	0.25187	5.923000	0.70045	0.027000	0.15297	0.165000	0.16767	CGC		TCGA-F2-A8YN-01A-11D-A377-08	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	0	0	0	5	482	0	99	0	9.965514e-01	0	1162	0	99	2		0	0	0	0	0	2	1	0.934736	5	473	0	99	2		0	0	0	0	99	2	-1.925356	0	1	0	0		1	0	1	1			0.570000	1.800000	0.570000	0.010000	0	0.040000	0.020000	0.021318	0.010000	0	0	3.000000e-02
DKC1	1736	broad.mit.edu	37	X	154001414	154001414	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A8YN-01A-11D-A377-08	TCGA-F2-A8YN-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3481a872-1f51-4fdd-95ec-c3ad9ffc9040	eacf769d-bf42-4c1a-854a-a966923cf00b	g.chrX:154001414T>A	ENST00000369550.5	+	11	1255	c.1045T>A	c.(1045-1047)Tta>Ata	p.L349I	SNORA56_ENST00000383966.1_RNA|DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin			15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				AGCTATTGCATTAATGACCAC	0.408000									Congenital Dyskeratosis															0							SO:0001583	missense	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	ENST00000369550.5	1	1	hg19	CCDS14761.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.138074	0.56936	.	.	ENSG00000130826	ENST00000369550	D	0.95342	-3.68	5.7	-1.01	0.10169	Uncharacterised domain CHP00451 (1);Pseudouridine synthase/archaeosine transglycosylase (3);PUA-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93363	0.7884	M	0.87180	2.865	0.44085	D	0.996845	B;B	0.33637	0.42;0.42	B;B	0.36378	0.159;0.223	D	0.86175	0.1602	10	0.26408	T	0.33	-6.4408	10.7852	0.46401	0.0:0.5019:0.0:0.4981	.	349;349	A8MUT5;O60832	.;DKC1_HUMAN	I	349	ENSP00000358563:L349I	ENSP00000358563:L349I	L	+	1	2	DKC1	153654608	0.851000	0.29673	0.004000	0.12327	0.277000	0.26821	1.370000	0.34238	-0.567000	0.06046	-0.323000	0.08544	TTA		TCGA-F2-A8YN-01A-11D-A377-08	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	1	0	0	20	336	0	66	1	9.617098e-01	5	88	0	66	2		0	0	0	0	0	2	1	0.999995	20	329	0	64	2		0	0	0	0	66	2	-19.998740	1	1	0	0		1	0	1	1			0.570000	1.800000	0.570000	0.090000	5.000000e-02	0.150000	0.100000	0.102685	0.090000	0	7.000000e-02	1.200000e-01
