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
AMPD3	272	broad.mit.edu	37	11	10503680	10503680	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:10503680C>T	ENST00000396554.3	+	4	865	c.524C>T	c.(523-525)gCg>gTg	p.A175V	AMPD3_ENST00000444303.2_Missense_Mutation_p.A7V	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3			25					GAGAAGTATGCGCGGCTCGCC	0.607000																								0							SO:0001583	missense			ENST00000396554.3	0	1	hg19	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692577	0.48202	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.88	5.88	0.94601	.	0.050747	0.85682	D	0.000000	T	0.29423	0.0733	N	0.04090	-0.28	0.38538	D	0.949131	B;B;B	0.26635	0.155;0.004;0.155	B;B;B	0.26416	0.069;0.002;0.069	T	0.20042	-1.0287	10	0.38643	T	0.18	-13.7119	16.4824	0.84161	0.0:0.8692:0.1308:0.0	.	173;166;175	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	V	7;175;166;166;173;166	ENSP00000396000:A7V;ENSP00000379802:A175V;ENSP00000433284:A166V;ENSP00000379801:A166V;ENSP00000436987:A173V;ENSP00000431648:A166V	ENSP00000379801:A166V	A	+	2	0	AMPD3	10460256	0.999000	0.42202	0.930000	0.37139	0.153000	0.21895	4.014000	0.57145	2.782000	0.95742	0.655000	0.94253	GCG		TCGA-HV-AA8V-01A-11D-A40W-08	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	0	0	0	6	760	1	185	0	3.224494e-03	0	9	1	185	2		0	0	0	0	0	2	1	0.962853	6	745	0	182	2								-1.945176	0	1	121412	1	40	1	1	2	3	2.014420	0	0.130000	3.860000	0.183099	0.130000	0.050000	0.270000	0.120000	0.148470	0.130000	0	8.000000e-02	2.000000e-01
CADM1	23705	broad.mit.edu	37	11	115047275	115047275	+	Silent	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:115047275G>A	ENST00000452722.3	-	10	1268	c.1248C>T	c.(1246-1248)gaC>gaT	p.D416D	CADM1_ENST00000537058.1_Silent_p.D427D|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Silent_p.D417D|CADM1_ENST00000331581.6_Silent_p.D445D|CADM1_ENST00000542447.2_Silent_p.D388D	NM_014333.3	NP_055148.3			cell adhesion molecule 1	p.D416D(2)		32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)			CGTCTGCTGCGTCATCGGCTC	0.453000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000452722.3	1	1	hg19	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	2.658	-0.280418	0.05642	.	.	ENSG00000182985	ENST00000545380	.	.	.	5.36	3.36	0.38483	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52704	-0.8540	4	.	.	.	.	7.2924	0.26374	0.3073:0.0:0.6927:0.0	.	.	.	.	C	387	.	.	R	-	1	0	CADM1	114552485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.417000	0.44653	1.491000	0.48482	0.655000	0.94253	CGC		TCGA-HV-AA8V-01A-11D-A40W-08	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	1	0	0	46	551	0	214	0	8.420706e-01	0	42	0	214	2		0	0	0	0	0	2	1	1.000000	45	545	0	208	2								-10.968760	1	1	121412	1	36	1	1	2	3	2.015390	0	0.130000	3.860000	0.183099	0.990000	0.940000	1.000000	1.000000	0.996676	0.990000	1	9.900000e-01	1
DEPDC7	91614	broad.mit.edu	37	11	33050274	33050274	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:33050274T>C	ENST00000241051.3	+	4	810	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P	DEPDC7_ENST00000311388.3_Missense_Mutation_p.S231P	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7			17					TAAGAGGCAGTCCACCATGGT	0.413000																								0							SO:0001583	missense			ENST00000241051.3	1	1	hg19	CCDS41632.1	.	.	.	.	.	.	.	.	.	.	T	2.338	-0.351861	0.05173	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.14266	2.53;2.52	6.07	2.0	0.26442	.	0.384731	0.32015	N	0.006715	T	0.04003	0.0112	N	0.02247	-0.625	0.22827	N	0.998685	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34104	-0.9842	10	0.31617	T	0.26	0.2132	2.4874	0.04601	0.1154:0.4476:0.1129:0.3241	.	231;240	G5E941;Q96QD5	.;DEPD7_HUMAN	P	240;231	ENSP00000241051:S240P;ENSP00000308971:S231P	ENSP00000241051:S240P	S	+	1	0	DEPDC7	33006850	0.907000	0.30839	0.989000	0.46669	0.025000	0.11179	0.078000	0.14761	0.400000	0.25396	-0.250000	0.11733	TCC		TCGA-HV-AA8V-01A-11D-A40W-08	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388655.1	1	0	0	28	377	0	116	0	8.527828e-02	0	7	0	116	2		0	0	0	0	0	2	1	1.000000	28	376	0	114	2								-7.762204	1	1	0	0		1	1	2	3	2.014420	0	0.130000	3.860000	0.183099	0.990000	0.770000	1.000000	1.000000	0.975620	0.990000	1	9.400000e-01	1
IPO7	10527	broad.mit.edu	37	11	9459508	9459508	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr11:9459508G>A	ENST00000379719.3	+	21	2618	c.2476G>A	c.(2476-2478)Gac>Aac	p.D826N		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7			29					TAATGATGTTGACTGTTTCTT	0.313000																								0							SO:0001583	missense			ENST00000379719.3	0	1	hg19	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880990	0.91740	.	.	ENSG00000205339	ENST00000379719	T	0.49139	0.79	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70710	0.3255	M	0.84683	2.71	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.71984	-0.4427	10	0.31617	T	0.26	.	18.1413	0.89641	0.0:0.0:1.0:0.0	.	826	O95373	IPO7_HUMAN	N	826	ENSP00000369042:D826N	ENSP00000369042:D826N	D	+	1	0	IPO7	9416084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.756000	0.98918	2.270000	0.75569	0.460000	0.39030	GAC		TCGA-HV-AA8V-01A-11D-A40W-08	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	0	0	0	13	187	1	65	1	3.876983e-01	6	53	1	65	5		0	0	0	0	0	2	1	0.640492	13	184	1	65	12								-16.846620	1	1	0	0		1	1	2	3	2.014420	0	0.130000	3.860000	0.183099	0.990000	0.610000	1.000000	1.000000	0.936807	0.990000	1	8.200000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HV-AA8V-01A-11D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	18	172	0	81	1	1.147111e-01	4	2	0	81	2	1	1	23	595	0	522	2	1	0.999986	18	172	0	81	2								-8.544739	1	1	0	0		1	1	2	3	1.994619	0	0.130000	3.860000	0.183099	0.990000	0.970000	1.000000	1.000000	0.997089	0.990000	1	9.900000e-01	1
LRRIQ1	84125	broad.mit.edu	37	12	85449402	85449402	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr12:85449402T>A	ENST00000393217.2	+	8	892	c.831T>A	c.(829-831)aaT>aaA	p.N277K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1			83					AAGAAAAAAATTCTTTGTTAA	0.279000																								0							SO:0001583	missense			ENST00000393217.2	1	1	hg19	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.106995	0.00356	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.44881	0.91	5.27	-3.75	0.04372	.	1.107710	0.06767	N	0.782885	T	0.13884	0.0336	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.27123	-1.0083	10	0.02654	T	1	.	4.8548	0.13554	0.4249:0.0:0.2576:0.3174	.	277;252	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	277;252;277	ENSP00000376910:N277K	ENSP00000256007:N277K	N	+	3	2	LRRIQ1	83973533	0.000000	0.05858	0.006000	0.13384	0.025000	0.11179	-0.697000	0.05098	-0.763000	0.04658	0.260000	0.18958	AAT		TCGA-HV-AA8V-01A-11D-A40W-08	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	0	0	0	16	241	0	122		0	0	0	0	122	2		0	0	0	0	0	2	1	0.999933	16	237	0	122	2								-19.619020	1	1	0	0		1	1	3	4	1.957678	0	0.130000	3.860000	0.200662	0.990000	0.650000	1.000000	1.000000	0.950542	0.990000	1	8.600000e-01	1
ACSBG1	23205	broad.mit.edu	37	15	78500376	78500376	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr15:78500376T>A	ENST00000258873.4	-	2	405	c.200A>T	c.(199-201)gAg>gTg	p.E67V	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1			37					ATTCACCTTCTCTGGCACTGA	0.597000																								0							SO:0001583	missense			ENST00000258873.4	0	1	hg19	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351684	0.24512	.	.	ENSG00000103740	ENST00000258873	T	0.34859	1.34	3.78	0.137	0.14787	.	0.529823	0.16096	N	0.229804	T	0.29093	0.0723	L	0.61218	1.895	0.09310	N	1	B;B	0.31125	0.309;0.309	B;B	0.29785	0.081;0.107	T	0.18053	-1.0349	10	0.46703	T	0.11	-9.9024	4.2711	0.10787	0.3575:0.0:0.1854:0.4571	.	67;67	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	V	67	ENSP00000258873:E67V	ENSP00000258873:E67V	E	-	2	0	ACSBG1	76287431	0.015000	0.18098	0.022000	0.16811	0.030000	0.12068	0.155000	0.16362	0.007000	0.14760	0.402000	0.26972	GAG		TCGA-HV-AA8V-01A-11D-A40W-08	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	0	0	0	4	113	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.887568	4	111	0	31	2								-6.933227	1	1	0	0		1	1	2	3	2.013130	0	0.130000	3.860000	0.183099	0.610000	0.210000	1.000000	1.000000	0.637178	0.610000	0	3.700000e-01	9.300000e-01
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr17:7578478G>C	ENST00000269305.4	-	5	641	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P151R|TP53_ENST00000420246.2_Missense_Mutation_p.P151R|TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R	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.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCCGGGCGGGGGTGTGGAATC	0.607000		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	90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749177	0.49257	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.54753	D	0.999985	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.996;0.991;0.997;0.997;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151R;ENSP00000352610:P151R;ENSP00000269305:P151R;ENSP00000398846:P151R;ENSP00000391127:P151R;ENSP00000391478:P151R;ENSP00000425104:P19R;ENSP00000423862:P58R;ENSP00000424104:P151R	ENSP00000269305:P151R	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		TCGA-HV-AA8V-01A-11D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	21	233	0	85	1	7.411411e-01	4	27	0	85	2	1	1	159	1968	0	1758	2	1	0.999998	20	230	0	84	2								-8.080614	1	1	0	0		1	1	2	3	1.886721	1	0.130000	3.860000	0.183099	0.990000	0.870000	1.000000	1.000000	0.992636	0.990000	1	9.900000e-01	1
NPC1	4864	broad.mit.edu	37	18	21121386	21121386	+	Missense_Mutation	SNP	C	C	T	rs146874573		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:21121386C>T	ENST00000269228.5	-	15	2811	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	NPC1_ENST00000412552.2_Missense_Mutation_p.V435M|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1			38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)				GCTGGCATCACGGACAATGCT	0.512000																								0							SO:0001583	missense			ENST00000269228.5	1	1	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370474	0.42003	2.27E-4	1.16E-4	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.91740	-2.9;-2.9	5.89	-11.8	0.00035	Sterol-sensing domain (1);	1.444430	0.03929	N	0.284945	T	0.81602	0.4857	L	0.38175	1.15	0.09310	N	1	P;P	0.38711	0.643;0.643	B;B	0.25884	0.064;0.064	T	0.75139	-0.3423	10	0.46703	T	0.11	-1.0E-4	7.997	0.30273	0.22:0.08:0.0709:0.6291	.	764;753	Q59GR1;O15118	.;NPC1_HUMAN	M	753;435;598	ENSP00000269228:V753M;ENSP00000408606:V435M	ENSP00000269228:V753M	V	-	1	0	NPC1	19375384	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.730000	0.04915	-3.092000	0.00247	-1.075000	0.02238	GTG		TCGA-HV-AA8V-01A-11D-A40W-08	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	1	0	0	15	234	0	66	1	2.705912e-01	4	12	0	66	2		0	0	0	0	0	2	1	0.999867	15	229	0	66	2								-12.485540	1	1	121412	18	44	1	1	2	3	2.015846	0	0.130000	3.860000	0.183099	0.990000	0.580000	1.000000	1.000000	0.914808	0.990000	1	7.700000e-01	1
SMAD4	4089	broad.mit.edu	37	18	48575159	48575159	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr18:48575159C>T	ENST00000342988.3	+	3	891	c.353C>T	c.(352-354)gCg>gTg	p.A118V	SMAD4_ENST00000452201.2_Missense_Mutation_p.A118V|SMAD4_ENST00000588745.1_Missense_Mutation_p.A118V|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.A118V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(4)|p.A118V(2)|p.A118E(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TGTCAGTATGCGTTTGACTTA	0.398000																								43	Whole gene deletion(36)|Unknown(4)|Substitution - Missense(3)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260508	0.95368	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.78364	-1.17;-1.17;-1.17	5.48	5.48	0.80851	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91673	0.5352	10	0.72032	D	0.01	.	18.1041	0.89515	0.0:1.0:0.0:0.0	.	118	Q13485	SMAD4_HUMAN	V	118	ENSP00000409551:A118V;ENSP00000341551:A118V;ENSP00000381452:A118V	ENSP00000341551:A118V	A	+	2	0	SMAD4	46829157	1.000000	0.71417	0.994000	0.49952	0.854000	0.48673	7.793000	0.85851	2.540000	0.85666	0.585000	0.79938	GCG		TCGA-HV-AA8V-01A-11D-A40W-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0	22	251	0	94	0	2.331952e-01	0	11	0	94	2	1	1	44	741	1	692	6	1	0.999999	22	249	0	94	2								-3.221870	1	1	0	0		1	2	2	4	1.878351	1	0.130000	3.860000	0.178082	0.990000	0.880000	1.000000	1.000000	0.993081	0.990000	1	9.900000e-01	1
KHSRP	8570	broad.mit.edu	37	19	6417818	6417818	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr19:6417818A>G	ENST00000398148.3	-	11	1105	c.1013T>C	c.(1012-1014)aTt>aCt	p.I338T	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein			17					ACTCCGGCCAATGACCACGCC	0.642000											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	Colon(55;593 1006 2067 9135 22980)											0							SO:0001583	missense			ENST00000398148.3	1	1	hg19	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495956	0.64186	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.63913	-0.07	5.22	5.22	0.72569	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.050085	0.85682	N	0.000000	D	0.86041	0.5838	H	0.97415	4	0.80722	D	1	D	0.71674	0.998	D	0.97110	1.0	D	0.90820	0.4708	10	0.87932	D	0	.	14.1092	0.65111	1.0:0.0:0.0:0.0	.	338	Q92945	FUBP2_HUMAN	T	338;338;294	ENSP00000381216:I338T	ENSP00000201886:I338T	I	-	2	0	KHSRP	6368818	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	9.079000	0.94032	1.964000	0.57103	0.460000	0.39030	ATT		TCGA-HV-AA8V-01A-11D-A40W-08	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1	1	0	1	8	141	0	38	1	9.492369e-01	11	84	0	38	2		0	0	0	0	0	2	1	0.989991	8	141	0	38	2								-11.642600	1	1	0	0		1	2	2	4	2.025459	0	0.130000	3.860000	0.230088	0.970000	0.460000	1.000000	1.000000	0.877675	0.970000	1	6.800000e-01	1
AADACL3	126767	broad.mit.edu	37	1	12785321	12785321	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:12785321C>T	ENST00000359318.5	+	4	616	c.411C>T	c.(409-411)ttC>ttT	p.F137F	AADACL3_ENST00000332530.3_Silent_p.F67F	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3			15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)			GTGACAGTTTCGGAGGGGCAA	0.572000																								0							SO:0001819	synonymous_variant			ENST00000359318.5	1	1	hg19	CCDS41253.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	1	0	0	31	364	0	112		0	0	0	0	112	2		0	0	0	0	0	2	1	1.000000	31	359	0	109	2								-2.920848	1	1	120894	10	41	1	2	2	4	2.023596	0	0.130000	3.860000	0.230088	0.990000	0.950000	1.000000	1.000000	0.997141	0.990000	1	9.900000e-01	1
ADCY10	55811	broad.mit.edu	37	1	167802257	167802257	+	Silent	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:167802257C>A	ENST00000367851.4	-	25	3745	c.3561G>T	c.(3559-3561)gtG>gtT	p.V1187V	ADCY10_ENST00000367848.1_Silent_p.V1095V|ADCY10_ENST00000545172.1_Silent_p.V1034V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					CCTGCCGATTCACATAATGAA	0.488000																								0							SO:0001819	synonymous_variant			ENST00000367851.4	1	1	hg19	CCDS1265.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	1	0	0	46	608	0	195		0	0	0	0	195	2		0	0	0	0	0	2	1	1.000000	46	601	0	193	2								-9.730177	1	1	0	0		1						0.130000	3.860000									0	0
UBR4	23352	broad.mit.edu	37	1	19488970	19488970	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr1:19488970A>G	ENST00000375254.3	-	35	4927	c.4900T>C	c.(4900-4902)Tca>Cca	p.S1634P	UBR4_ENST00000375217.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375267.2_Missense_Mutation_p.S1634P|UBR4_ENST00000375226.2_Missense_Mutation_p.S1634P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			ACCCAGTCTGAGTCTACTTCA	0.507000																								0							SO:0001583	missense			ENST00000375254.3	1	1	hg19	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.746021	0.89663	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	T	0.75488	0.3856	L	0.39898	1.24	0.80722	D	1	D	0.54601	0.967	D	0.65874	0.939	T	0.76887	-0.2793	10	0.62326	D	0.03	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1634	Q5T4S7	UBR4_HUMAN	P	1634;1634;1634;1634;344;850	ENSP00000364403:S1634P;ENSP00000364416:S1634P;ENSP00000364365:S1634P;ENSP00000364374:S1634P	ENSP00000364365:S1634P	S	-	1	0	UBR4	19361557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.904000	0.92590	2.333000	0.79357	0.482000	0.46254	TCA		TCGA-HV-AA8V-01A-11D-A40W-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	56	579	0	178	1	4.236018e-01	4	12	0	178	2		0	0	0	0	0	2	1	1.000000	56	567	0	175	2								-15.460630	1	1	0	0		1	2	2	4	2.038355	0	0.130000	3.860000	0.230088	0.990000	0.990000	1.000000	1.000000	0.999964	0.990000	1	9.900000e-01	1
NPEPL1	79716	broad.mit.edu	37	20	57268896	57268896	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57268896G>A	ENST00000356091.6	+	2	542	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R37Q|NPEPL1_ENST00000525967.1_Missense_Mutation_p.R57Q	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1			14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		AGGGTGAGCCGGCACAACAGC	0.682000																								0							SO:0001583	missense			ENST00000356091.6	0	1	hg19	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	G	36	5.923514	0.97110	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.58358	0.39;0.47;0.34	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	M	0.83384	2.64	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	T	0.79841	-0.1633	10	0.72032	D	0.01	-28.8711	17.2194	0.86953	0.0:0.0:1.0:0.0	.	85;37;57	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	Q	57;37;85	ENSP00000434810:R57Q;ENSP00000437112:R37Q;ENSP00000348395:R85Q	ENSP00000348395:R85Q	R	+	2	0	NPEPL1	56702303	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	9.378000	0.97191	2.304000	0.77564	0.505000	0.49811	CGG		TCGA-HV-AA8V-01A-11D-A40W-08	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	0	0	0	11	150	0	36	1	6.818107e-01	2	31	0	36	2		0	0	0	0	0	2	1	0.998411	11	148	0	36	2								-5.742045	1	1	0	0		1	1	2	3	1.981085	0	0.130000	3.860000	0.180096	0.990000	0.610000	1.000000	1.000000	0.946567	0.990000	1	8.500000e-01	1
GNAS	2778	broad.mit.edu	37	20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	rs11554273		TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	p.R201C(228)|p.R844C(9)|p.R201S(5)		441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		GCTTCGCTGCCGTGTCCTGAC	0.428000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	242	Substitution - Missense(242)						SO:0001583	missense			ENST00000371085.3	1	1	hg19	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT		TCGA-HV-AA8V-01A-11D-A40W-08	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	1	0	0	25	261	0	78	1	1	163	1286	0	78	2	1	1	54	682	1	646	6	1	1.000000	24	257	0	78	2								-2.598634	1	1	121412	1	31	1	1	2	3	1.981085	0	0.130000	3.860000	0.180096	0.990000	0.960000	1.000000	1.000000	0.997182	0.990000	1	9.900000e-01	1
NDUFV3	4731	broad.mit.edu	37	21	44317096	44317096	+	Silent	SNP	G	G	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr21:44317096G>T	ENST00000340344.4	+	2	174	c.108G>T	c.(106-108)gcG>gcT	p.A36A	NDUFV3_ENST00000354250.2_Silent_p.A36A|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa			10					CTTTGTCTGCGGAATCAGGGA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000340344.4	1	1	hg19	CCDS33573.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2	1	0	1	27	362	0	112	1	9.941789e-01	20	90	0	112	2		0	0	0	0	0	2	1	1.000000	26	354	0	112	2								-2.559133	1	0	0	0		1	1	2	3	2.009494	0	0.130000	3.860000	0.183099	0.990000	0.770000	1.000000	1.000000	0.975573	0.990000	1	9.400000e-01	1
CECR1	51816	broad.mit.edu	37	22	17662742	17662742	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:17662742C>T	ENST00000399839.1	-	9	1680	c.1410G>A	c.(1408-1410)agG>agA	p.R470R	CECR1_ENST00000449907.2_Silent_p.R428R|CECR1_ENST00000262607.3_Silent_p.R470R|CECR1_ENST00000330232.4_Silent_p.R229R|CECR1_ENST00000399837.2_Silent_p.R470R	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1			25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)			GTTTGAGGGTCCTCAGGTCAG	0.547000																								0							SO:0001819	synonymous_variant			ENST00000399839.1	1	1	hg19	CCDS13742.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1	0	0	0	20	315	1	101	1	2.866182e-01	2	15	1	101	2		0	0	0	0	0	2	1	0.913206	19	309	1	101	13								-19.998860	1	1	0	0		1	2	2	4	2.039256	0	0.130000	3.860000	0.230088	0.990000	0.660000	1.000000	1.000000	0.943307	0.990000	1	8.400000e-01	1
MED15	51586	broad.mit.edu	37	22	20939239	20939239	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:20939239T>C	ENST00000263205.7	+	15	1970	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MED15_ENST00000382974.2_Missense_Mutation_p.F523S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.F568S|MED15_ENST00000292733.7_Missense_Mutation_p.F594S|MED15_ENST00000425759.2_Missense_Mutation_p.F483S|MED15_ENST00000541476.1_Missense_Mutation_p.F568S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15			25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		TCACCTGTCTTCAACCATTCC	0.647000																								0							SO:0001583	missense			ENST00000263205.7	1	1	hg19	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334132	0.81801	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.72	4.72	0.59763	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.997;0.999;0.997;0.999;0.997	D;D;D;D;D;D	0.83275	0.984;0.995;0.996;0.991;0.988;0.995	T	0.74115	-0.3769	9	0.30854	T	0.27	.	12.1678	0.54139	0.0:0.0:0.0:1.0	.	564;613;250;568;594;634	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	S	483;594;634;568;523;568;564	.	ENSP00000263205:F634S	F	+	2	0	MED15	19269239	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.597000	0.82733	1.771000	0.52183	0.459000	0.35465	TTC		TCGA-HV-AA8V-01A-11D-A40W-08	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	0	0	1	49	578	0	169	1	9.998191e-01	30	119	0	169	2		0	0	0	0	0	2	1	1.000000	49	569	0	165	2								-20.000000	1	1	0	0		1	2	2	4	2.039256	0	0.130000	3.860000	0.230088	0.990000	0.990000	1.000000	1.000000	0.999174	0.990000	1	9.900000e-01	1
MYH9	4627	broad.mit.edu	37	22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle			86					CATCTCCGTGCGGAACTGCTT	0.637000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated						Dom	yes		22	22q13.1	4627	myosin, heavy polypeptide 9, non-muscle	yes	L	0							SO:0001583	missense	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	ENST00000216181.5	1	1	hg19	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	c	27.6	4.849169	0.91277	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.78003	-1.14	5.2	5.2	0.72013	Myosin tail (1);	0.179769	0.49305	D	0.000160	D	0.86293	0.5898	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.64877	0.93	D	0.87483	0.2422	10	0.87932	D	0	.	19.1126	0.93323	0.0:1.0:0.0:0.0	.	1503	P35579	MYH9_HUMAN	H	925;105;1503	ENSP00000216181:R1503H	ENSP00000216181:R1503H	R	-	2	0	MYH9	35015126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.876000	0.63079	2.586000	0.87340	0.556000	0.70494	CGC		TCGA-HV-AA8V-01A-11D-A40W-08	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	1	0	0	11	193	0	50	1	1	51	808	0	50	2		0	0	0	0	0	2	1	0.998340	11	190	0	50	2								-13.768890	1	1	121412	2	37	1	1	2	3	2.013593	0	0.130000	3.860000	0.183099	0.900000	0.480000	1.000000	1.000000	0.857889	0.900000	1	6.700000e-01	1
IRS1	3667	broad.mit.edu	37	2	227660886	227660886	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:227660886G>A	ENST00000305123.5	-	1	3589	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1			69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)			CTCGTGGGCCGGGCCAGGCGG	0.662000																								0							SO:0001583	missense			ENST00000305123.5	0	1	hg19	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025202	0.54683	.	.	ENSG00000169047	ENST00000305123	D	0.85484	-1.99	4.96	4.06	0.47325	.	0.000000	0.64402	D	0.000004	D	0.89301	0.6676	L	0.49126	1.545	0.39337	D	0.965517	D	0.89917	1.0	D	0.91635	0.999	D	0.90424	0.4419	10	0.87932	D	0	-13.9538	12.3313	0.55041	0.0:0.0:0.568:0.432	.	857	P35568	IRS1_HUMAN	W	857	ENSP00000304895:R857W	ENSP00000304895:R857W	R	-	1	2	IRS1	227369130	0.995000	0.38212	0.900000	0.35374	0.934000	0.57294	1.962000	0.40442	1.269000	0.44280	0.650000	0.86243	CGG		TCGA-HV-AA8V-01A-11D-A40W-08	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	0	0	1	33	277	1	78	0	4.613975e-01	1	22	1	78	3		0	0	0	0	0	2	1	0.983165	33	273	2	77	19								-2.806913	1	1	0	0		1	1	2	3	2.012538	0	0.130000	3.860000	0.183099	0.990000	0.990000	1.000000	1.000000	0.999945	0.990000	1	9.900000e-01	1
HJURP	55355	broad.mit.edu	37	2	234749480	234749480	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:234749480C>A	ENST00000411486.2	-	8	2011	c.1946G>T	c.(1945-1947)aGt>aTt	p.S649I	HJURP_ENST00000441687.1_Missense_Mutation_p.S564I|HJURP_ENST00000432087.1_Missense_Mutation_p.S595I|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein			38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)			GCCCAGTAGACTTTTTCTGCA	0.488000																								0							SO:0001583	missense			ENST00000411486.2	1	1	hg19	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144038	0.37825	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.11385	3.13;3.13;3.13;2.78	4.28	2.41	0.29592	.	0.821288	0.10885	N	0.623347	T	0.08670	0.0215	L	0.44542	1.39	0.09310	N	1	P;P;P	0.37955	0.612;0.612;0.478	B;B;B	0.33750	0.169;0.169;0.081	T	0.28650	-1.0037	10	0.42905	T	0.14	-0.0459	5.1147	0.14829	0.2129:0.6805:0.0:0.1066	.	564;595;649	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	649;595;564;564	ENSP00000414109:S649I;ENSP00000407208:S595I;ENSP00000401944:S564I;ENSP00000393253:S564I	ENSP00000414109:S649I	S	-	2	0	HJURP	234414219	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.131000	0.15870	0.696000	0.31696	0.563000	0.77884	AGT		TCGA-HV-AA8V-01A-11D-A40W-08	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	0	0	1	24	362	0	107	1	2.279446e-01	3	11	0	107	2		0	0	0	0	0	2	1	1.000000	24	354	0	105	2								-20.000000	1	1	0	0		1	1	2	3	2.012538	0	0.130000	3.860000	0.183099	0.990000	0.670000	1.000000	1.000000	0.940657	0.990000	1	8.300000e-01	1
MAP4K3	8491	broad.mit.edu	37	2	39526942	39526942	+	Splice_Site	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr2:39526942C>A	ENST00000263881.3	-	16	1444	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000341681.5_Splice_Site_p.D353Y|MAP4K3_ENST00000437545.1_Splice_Site_p.D290Y	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3			44		all_hematologic(82;0.211)			AGTTGCAGATCCTAATAGTAC	0.264000																								0							SO:0001630	splice_region_variant			ENST00000263881.3	1	0	hg19	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242524	0.39598	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.15952	2.38;2.38;2.38	5.49	5.49	0.81192	Protein kinase-like domain (1);	0.149260	0.64402	D	0.000018	T	0.14700	0.0355	L	0.28274	0.84	0.80722	D	1	B;B	0.17465	0.001;0.022	B;B	0.10450	0.002;0.005	T	0.09640	-1.0665	9	.	.	.	.	19.3536	0.94401	0.0:1.0:0.0:0.0	.	353;374	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	Y	374;290;353	ENSP00000263881:D374Y;ENSP00000416958:D290Y;ENSP00000345434:D353Y	.	D	-	1	0	MAP4K3	39380446	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.208000	0.72165	2.578000	0.87016	0.313000	0.20887	GAT		TCGA-HV-AA8V-01A-11D-A40W-08	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	1	0	0	17	191	0	56	0	8.970671e-02	0	6	0	56	2		0	0	0	0	0	2	1	0.999969	16	190	0	56	2								-19.997910	1	1	0	0		1	1	2	3	2.013081	0	0.130000	3.860000	0.183099	0.990000	0.820000	1.000000	1.000000	0.988273	0.990000	1	9.900000e-01	1
GATA2	2624	broad.mit.edu	37	3	128199973	128199973	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:128199973C>T	ENST00000341105.2	-	6	1663	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	GATA2_ENST00000430265.2_Silent_p.P430P|GATA2_ENST00000487848.1_Silent_p.P444P|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	p.P444P(1)		79					GGCTGAAGGGCGGGAGGTGGC	0.657000			Mis		AML(CML blast transformation)										Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000341105.2	1	1	hg19	CCDS3049.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	1	0	0	22	222	0	52	0	2.008178e-01	1	8	0	52	2		0	0	0	0	0	2	1	0.999999	20	215	0	48	2								-3.017765	1	1	121412	2	35	1	1	2	3	2.015952	0	0.130000	3.860000	0.183099	0.990000	0.960000	1.000000	1.000000	0.997188	0.990000	1	9.900000e-01	1
LRRIQ4	344657	broad.mit.edu	37	3	169550783	169550783	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:169550783G>A	ENST00000340806.6	+	4	1342	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4			30					AGCTTTGAAAGAATTACGGCT	0.403000																								0							SO:0001583	missense			ENST00000340806.6	1	1	hg19	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	G	6.345	0.431770	0.12045	.	.	ENSG00000188306	ENST00000340806	T	0.57907	0.37	5.56	2.35	0.29111	.	0.249318	0.33180	N	0.005186	T	0.26484	0.0647	N	0.12663	0.25	0.28781	N	0.899839	B	0.18310	0.027	B	0.26310	0.068	T	0.11518	-1.0584	10	0.13108	T	0.6	.	2.8532	0.05564	0.3803:0.2331:0.3866:0.0	.	448	A6NIV6	LRIQ4_HUMAN	K	448	ENSP00000342188:E448K	ENSP00000342188:E448K	E	+	1	0	LRRIQ4	171033477	0.998000	0.40836	0.994000	0.49952	0.597000	0.36814	0.850000	0.27737	0.691000	0.31592	0.561000	0.74099	GAA		TCGA-HV-AA8V-01A-11D-A40W-08	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	1	0	0	18	204	0	68	0	0	1	0	0	68	2		0	0	0	0	0	2	1	0.999979	17	196	0	65	2								-3.221906	1	1	0	0		1	1	2	3	2.015952	0	0.130000	3.860000	0.183099	0.990000	0.830000	1.000000	1.000000	0.988605	0.990000	1	9.900000e-01	1
PARL	55486	broad.mit.edu	37	3	183547482	183547482	+	Silent	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	p.Y348Y(1)		17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		GTTCATGACCGTAAGTAACAT	0.423000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000317096.4	0	1	hg19	CCDS3248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.66|11.66	1.706359|1.706359	0.30232|0.30232	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000450375;ENST00000417784|ENST00000418450	T|.	0.51325|.	0.71|.	5.71|5.71	-6.81|-6.81	0.01704|0.01704	.|.	.|.	.|.	.|.	.|.	T|T	0.65883|0.65883	0.2734|0.2734	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68981|0.68981	-0.5266|-0.5266	5|4	.|.	.|.	.|.	-19.5416|-19.5416	18.3207|18.3207	0.90237|0.90237	0.3327:0.0:0.6673:0.0|0.3327:0.0:0.6673:0.0	.|.	.|.	.|.	.|.	W|M	62;140|81	ENSP00000402689:R62W|.	.|.	R|T	-|-	1|2	2|0	PARL|PARL	185030176|185030176	0.001000|0.001000	0.12720|0.12720	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	-1.489000|-1.489000	0.02306|0.02306	-1.663000|-1.663000	0.01481|0.01481	-0.414000|-0.414000	0.06135|0.06135	CGG|ACG		TCGA-HV-AA8V-01A-11D-A40W-08	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346465.1	0	0	0	6	700	1	230	0	3.156164e-02	0	107	1	230	4		0	0	0	0	0	2	0	0.111495	6	691	1	228	12								-1.824079	0	1	121410	1	32	1	1	2	3	2.015952	0	0.130000	3.860000	0.183099	0.140000	0.050000	0.290000	0.150000	0.160970	0.140000	0	9.000000e-02	2.200000e-01
CNTN4	152330	broad.mit.edu	37	3	3084848	3084848	+	Splice_Site	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:3084848G>A	ENST00000397461.1	+	21	3082		c.e21+1		CNTN4_ENST00000448906.2_Splice_Site|CNTN4_ENST00000397459.2_Splice_Site|CNTN4_ENST00000418658.1_Splice_Site|CNTN4_ENST00000427331.1_Splice_Site|CNTN4_ENST00000358480.3_Splice_Site|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4			61		Ovarian(110;0.156)			CGAAAGCCACGTAAGAACAGA	0.428000																								0							SO:0001630	splice_region_variant			ENST00000397461.1	1	1	hg19	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400540	0.83120	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1349	0.93424	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN4	3059848	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.585000	0.98223	2.606000	0.88127	0.655000	0.94253	.		TCGA-HV-AA8V-01A-11D-A40W-08	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	1	0	0	11	166	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.998348	11	163	0	41	2								-3.310327	1	1	0	0		1	1	2	3	2.015952	0	0.130000	3.860000	0.183099	0.990000	0.550000	1.000000	1.000000	0.916537	0.990000	1	7.700000e-01	1
SACM1L	22908	broad.mit.edu	37	3	45751115	45751115	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:45751115C>T	ENST00000389061.5	+	5	663	c.459C>T	c.(457-459)ttC>ttT	p.F153F	SACM1L_ENST00000418611.1_Silent_p.F50F|SACM1L_ENST00000541314.1_Silent_p.F92F|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)			23					GTCCTGAATTCCAAGAAATGA	0.343000																								0							SO:0001819	synonymous_variant			ENST00000389061.5	1	1	hg19	CCDS33745.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	1	0	0	22	246	0	84	0	3.961269e-01	1	15	0	84	2		0	0	0	0	0	2	1	0.999999	22	243	0	82	2								-3.142701	1	1	0	0		1	1	2	3	2.015952	0	0.130000	3.860000	0.183099	0.990000	0.880000	1.000000	1.000000	0.992793	0.990000	1	9.900000e-01	1
CACNA1D	776	broad.mit.edu	37	3	53769492	53769492	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr3:53769492G>A	ENST00000350061.5	+	20	3224	c.2713G>A	c.(2713-2715)Gca>Aca	p.A905T	CACNA1D_ENST00000288139.4_Missense_Mutation_p.A925T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A905T	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit			90				Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCCCTGGCCGCAGAGGACCC	0.627000																								0							SO:0001583	missense			ENST00000350061.5	0	1	hg19	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595482	0.66219	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.46	4.58	0.56647	.	0.066144	0.64402	N	0.000015	D	0.98601	0.9532	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.986;1.0;0.972	D;P;D;P	0.79108	0.988;0.659;0.992;0.816	D	0.99655	1.0992	10	0.87932	D	0	.	16.7269	0.85424	0.0:0.1292:0.8708:0.0	.	905;598;905;925	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	T	905;925;905;598	ENSP00000288133:A905T;ENSP00000288139:A925T;ENSP00000409174:A905T;ENSP00000418014:A598T	ENSP00000288139:A925T	A	+	1	0	CACNA1D	53744532	1.000000	0.71417	0.106000	0.21319	0.197000	0.23852	7.906000	0.87423	1.407000	0.46875	0.555000	0.69702	GCA		TCGA-HV-AA8V-01A-11D-A40W-08	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	0	0	0	5	337	0	104	0	1.045313e-03	0	3	0	104	2		0	0	0	0	0	2	1	0.936038	5	333	0	103	2								-2.701529	1	1	121412	2	39	1	1	2	3	2.015952	0	0.130000	3.860000	0.183099	0.260000	0.090000	0.520000	0.240000	0.282056	0.260000	0	1.600000e-01	3.900000e-01
PCDHGA5	56110	broad.mit.edu	37	5	140744450	140744450	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:140744450G>A	ENST00000518069.1	+	1	553	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5			18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGTGGTAAGCGGAACTGATGG	0.552000																								0							SO:0001583	missense			ENST00000518069.1	1	1	hg19	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.381306	0.01204	.	.	ENSG00000253485	ENST00000518069	T	0.19532	2.14	5.52	4.6	0.57074	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14614	0.0353	L	0.39514	1.22	0.09310	N	1	B;B	0.26809	0.16;0.1	B;B	0.25614	0.062;0.047	T	0.29058	-1.0024	9	0.08381	T	0.77	.	7.6206	0.28183	0.1456:0.1436:0.7108:0.0	.	185;185	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	R	185	ENSP00000429834:G185R	ENSP00000429834:G185R	G	+	1	0	PCDHGA5	140724634	0.000000	0.05858	0.525000	0.27900	0.701000	0.40568	0.662000	0.25038	2.756000	0.94617	0.563000	0.77884	GGA		TCGA-HV-AA8V-01A-11D-A40W-08	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	1	0	0	22	236	0	87	0	8.134394e-03	0	2	0	87	2		0	0	0	0	0	2	1	0.999999	21	233	0	86	2								-2.966613	1	1	0	0		1	1	2	3	2.011985	0	0.130000	3.860000	0.183099	0.990000	0.910000	1.000000	1.000000	0.995015	0.990000	1	9.900000e-01	1
CMYA5	202333	broad.mit.edu	37	5	79084856	79084856	+	Missense_Mutation	SNP	T	T	G	rs146960317	by1000genomes	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr5:79084856T>G	ENST00000446378.2	+	10	11649	c.11618T>G	c.(11617-11619)tTt>tGt	p.F3873C	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			GATAACTACTTTTTCTATGTG	0.393000																								0							SO:0001583	missense			ENST00000446378.2	1	1	hg19	CCDS47238.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	22.5	4.298641	0.81025	.	.	ENSG00000164309	ENST00000446378	T	0.54071	0.59	5.75	5.75	0.90469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65026	0.2652	L	0.40543	1.245	0.47308	D	0.999382	D	0.89917	1.0	D	0.72625	0.978	T	0.67925	-0.5544	9	0.87932	D	0	.	15.7296	0.77790	0.0:0.0:0.0:1.0	.	3873	Q8N3K9	CMYA5_HUMAN	C	3873	ENSP00000394770:F3873C	ENSP00000394770:F3873C	F	+	2	0	CMYA5	79120612	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.181000	0.77682	2.188000	0.69820	0.528000	0.53228	TTT		TCGA-HV-AA8V-01A-11D-A40W-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	0	0	55	601	0	181	0	1.149432e-01	0	7	0	181	2		0	0	0	0	0	2	1	1.000000	55	596	0	180	2								-20.000000	1	1	120838	2	37	1	1	2	3	2.011985	0	0.130000	3.860000	0.183099	0.990000	0.990000	1.000000	1.000000	0.999555	0.990000	1	9.900000e-01	1
BEND3	57673	broad.mit.edu	37	6	107391539	107391539	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:107391539G>A	ENST00000369042.1	-	4	1046	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	BEND3_ENST00000429433.2_Missense_Mutation_p.R286W			Q5T5X7	BEND3_HUMAN	BEN domain containing 3			30					CTGCAGCCCCGGGAGAAGTCC	0.637000																								0							SO:0001583	missense			ENST00000369042.1	1	1	hg19	CCDS34507.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101677	0.56183	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	T;T	0.45668	0.89;0.89	5.32	5.32	0.75619	BEN domain (2);	0.197966	0.40728	N	0.001029	T	0.48314	0.1493	L	0.56769	1.78	0.43494	D	0.995733	D	0.76494	0.999	D	0.63033	0.91	T	0.50440	-0.8828	10	0.87932	D	0	-0.939	11.8908	0.52628	0.0:0.0:0.7097:0.2903	.	286	Q5T5X7	BEND3_HUMAN	W	286	ENSP00000358038:R286W;ENSP00000411268:R286W	ENSP00000358038:R286W	R	-	1	2	BEND3	107498232	0.993000	0.37304	0.994000	0.49952	0.916000	0.54674	2.915000	0.48805	2.774000	0.95407	0.561000	0.74099	CGG		TCGA-HV-AA8V-01A-11D-A40W-08	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	1	0	0	8	123	0	33	0	0	0	1	0	33	2		0	0	0	0	0	2	1	0.989772	8	122	0	33	2								-3.326893	1	1	0	0		1	1	2	3	1.863648	1	0.130000	3.860000	0.179594	0.990000	0.490000	1.000000	1.000000	0.903717	0.990000	1	7.300000e-01	1
BMP5	653	broad.mit.edu	37	6	55739380	55739380	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:55739380T>A	ENST00000370830.3	-	1	982	c.284A>T	c.(283-285)gAa>gTa	p.E95V	BMP5_ENST00000446683.2_Missense_Mutation_p.E95V	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5			45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)		CTCCGACTCTTCAGGATTTTC	0.507000																								0							SO:0001583	missense			ENST00000370830.3	1	1	hg19	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611182	0.28712	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.74002	-0.8;-0.45	5.82	5.82	0.92795	Transforming growth factor-beta, N-terminal (1);	0.246245	0.43579	D	0.000543	T	0.57227	0.2039	L	0.46157	1.445	0.54753	D	0.99998	P;B	0.37141	0.584;0.083	B;B	0.37833	0.259;0.175	T	0.65792	-0.6082	10	0.54805	T	0.06	.	10.5161	0.44889	0.0:0.0719:0.0:0.9281	.	95;95	B4E0Y4;P22003	.;BMP5_HUMAN	V	95	ENSP00000359866:E95V;ENSP00000391818:E95V	ENSP00000359866:E95V	E	-	2	0	BMP5	55847339	0.896000	0.30565	0.939000	0.37840	0.945000	0.59286	1.407000	0.34657	2.216000	0.71823	0.528000	0.53228	GAA		TCGA-HV-AA8V-01A-11D-A40W-08	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1	1	0	0	27	476	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	1.000000	26	469	0	145	2								-20.000000	1	1	0	0		1	2	2	4	1.907696	0	0.130000	3.860000	0.190999	0.960000	0.620000	1.000000	1.000000	0.906011	0.960000	1	7.600000e-01	1
NT5E	4907	broad.mit.edu	37	6	86197162	86197162	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr6:86197162C>T	ENST00000257770.3	+	5	1108	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C	NT5E_ENST00000369651.3_Silent_p.C353C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)			25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		Cytarabine(DB00987)|Pentoxifylline(DB00806)	CTCAATCATGCCGCTTTAGAG	0.413000													Melanoma(140;797 1765 2035 2752 18208)											0							SO:0001819	synonymous_variant			ENST00000257770.3	0	1	hg19	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103180	0.08731	.	.	ENSG00000135318	ENST00000416334;ENST00000437581	.	.	.	5.48	4.61	0.57282	.	.	.	.	.	T	0.60183	0.2249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61451	-0.7060	4	.	.	.	-11.8388	14.096	0.65021	0.0:0.9277:0.0:0.0723	.	.	.	.	V	118;49	.	.	A	+	2	0	NT5E	86253881	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	2.258000	0.43249	1.318000	0.45170	0.557000	0.71058	GCC		TCGA-HV-AA8V-01A-11D-A40W-08	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1	0	0	0	6	565	0	156	0	1.977727e-02	0	17	0	156	2		0	0	0	0	0	2	0	0.051280	6	555	1	155	14								-1.863692	0	1	0	0		1	1	2	3	1.863648	1	0.130000	3.860000	0.179594	0.180000	0.070000	1.000000	0.170000	0.242443	0.180000	0	1.200000e-01	2.900000e-01
CALD1	800	broad.mit.edu	37	7	134613527	134613527	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr7:134613527G>A	ENST00000361675.2	+	4	323	c.94G>A	c.(94-96)Gat>Aat	p.D32N	CALD1_ENST00000422748.1_Missense_Mutation_p.D32N|CALD1_ENST00000361901.2_Missense_Mutation_p.D32N|CALD1_ENST00000361388.2_Missense_Mutation_p.D32N|CALD1_ENST00000417172.1_Missense_Mutation_p.D32N|CALD1_ENST00000495522.1_Missense_Mutation_p.D26N|CALD1_ENST00000543443.1_Missense_Mutation_p.D37N|CALD1_ENST00000424922.1_Missense_Mutation_p.D26N|CALD1_ENST00000393118.2_Missense_Mutation_p.D26N			Q05682	CALD1_HUMAN	caldesmon 1			43					GAGGAATGACGATGATGAAGA	0.587000																								0							SO:0001583	missense			ENST00000361675.2	1	1	hg19	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.802103	0.70682	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000454108;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000435928;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.55	5.55	0.83447	.	0.000000	0.46758	D	0.000267	T	0.72203	0.3431	M	0.75264	2.295	0.31913	N	0.614431	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.998;0.998;0.998;0.998;0.999;0.999	T	0.73678	-0.3907	10	0.30078	T	0.28	-35.6861	17.6838	0.88251	0.0:0.0:1.0:0.0	.	37;32;26;26;32;32;32;32	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	N	32;32;32;32;32;32;32;46;32;26;26;26;37	ENSP00000398826:D32N;ENSP00000411476:D32N;ENSP00000355000:D32N;ENSP00000395710:D32N;ENSP00000401988:D32N;ENSP00000354826:D32N;ENSP00000354513:D32N;ENSP00000390926:D46N;ENSP00000416611:D32N;ENSP00000376826:D26N;ENSP00000393621:D26N;ENSP00000419673:D26N;ENSP00000445641:D37N	ENSP00000355000:D32N	D	+	1	0	CALD1	134264067	1.000000	0.71417	0.966000	0.40874	0.260000	0.26232	6.465000	0.73538	2.600000	0.87896	0.561000	0.74099	GAT		TCGA-HV-AA8V-01A-11D-A40W-08	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	1	0	0	12	129	0	32	0	9.999845e-01	0	243	0	32	2	1	1	68	691	0	476	2	1	0.999024	12	123	0	31	2								-17.415180	1	1	0	0		1	1	2	3	2.015671	0	0.130000	3.860000	0.183099	0.990000	0.780000	1.000000	1.000000	0.984838	0.990000	1	9.900000e-01	1
FAM84B	157638	broad.mit.edu	37	8	127569401	127569401	+	Silent	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:127569401C>A	ENST00000304916.3	-	2	689	c.234G>T	c.(232-234)ctG>ctT	p.L78L	FAM84B_ENST00000517458.1_5'Flank|RP11-89K10.1_ENST00000519880.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B			5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)		CCACCTCGTGCAGCCGCGGAT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000304916.3	1	1	hg19	CCDS6358.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381487.1	1	0	0	7	85	0	25	1	9.135970e-02	2	4	0	25	2		0	0	0	0	0	2	1	0.979699	7	82	0	22	2								-12.193250	1	1	0	0		1	2	3	5	2.155993	1	0.130000	3.860000	0.271967	0.990000	0.670000	1.000000	1.000000	0.972709	0.990000	1	9.900000e-01	1
BAI1	575	broad.mit.edu	37	8	143603456	143603456	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:143603456G>A	ENST00000517894.1	+	21	4049	c.3155G>A	c.(3154-3156)cGc>cAc	p.R1052H	BAI1_ENST00000323289.5_Missense_Mutation_p.R1052H			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)				ATCCGCAAGCGCTTCCTCTGC	0.657000																								0							SO:0001583	missense			ENST00000517894.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.6	4.434877	0.83885	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.38722	1.12;1.12	3.78	3.78	0.43462	.	0.151347	0.45126	U	0.000396	T	0.48429	0.1499	L	0.54323	1.7	0.58432	D	0.999998	P	0.44734	0.842	P	0.48952	0.596	T	0.53351	-0.8451	10	0.54805	T	0.06	.	14.6053	0.68475	0.0:0.0:1.0:0.0	.	1052	E9PBK0	.	H	1052	ENSP00000430945:R1052H;ENSP00000313046:R1052H	ENSP00000313046:R1052H	R	+	2	0	BAI1	143600458	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.490000	0.97952	1.641000	0.50575	0.305000	0.20034	CGC		TCGA-HV-AA8V-01A-11D-A40W-08	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	0	0	0	27	175	1	37	0	0	0	1	1	37	2		0	0	0	0	0	2	1	0.954763	25	174	1	37	17								-3.322475	1	1	0	0		1	2	3	5	2.155993	1	0.130000	3.860000	0.271967	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
FBXL6	26233	broad.mit.edu	37	8	145580129	145580129	+	Silent	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:145580129T>A	ENST00000331890.5	-	7	1120	c.1056A>T	c.(1054-1056)ggA>ggT	p.G352G	SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.G346G|TMEM249_ENST00000531225.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6			5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		GGAAGCCTGGTCCGGGAGCCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000331890.5	1	1	hg19	CCDS6422.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	1	0	0	13	280	0	63	1	7.069337e-01	17	37	0	63	2		0	0	0	0	0	2	1	0.999523	13	276	0	63	2								-15.198480	1	1	0	0		1	2	3	5	2.155993	1	0.130000	3.860000	0.271967	0.830000	0.470000	1.000000	1.000000	0.823157	0.830000	0	6.300000e-01	1
ENTPD4	9583	broad.mit.edu	37	8	23297388	23297388	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:23297388C>A	ENST00000358689.4	-	9	1158	c.923G>T	c.(922-924)gGa>gTa	p.G308V	ENTPD4_ENST00000417069.2_Missense_Mutation_p.G300V|ENTPD4_ENST00000521321.1_5'Flank|ENTPD4_ENST00000356206.6_Missense_Mutation_p.G300V	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4			25		Prostate(55;0.114)			AACATCACATCCCAAGTTAAA	0.403000																								0							SO:0001583	missense			ENST00000358689.4	1	1	hg19	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747739	0.89663	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069	T;T;T	0.10763	2.84;2.84;2.84	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.90759	3.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.40194	-0.9576	10	0.51188	T	0.08	-20.4904	19.1586	0.93522	0.0:1.0:0.0:0.0	.	300;300;308	Q8NE73;Q9Y227-2;Q9Y227	.;.;ENTP4_HUMAN	V	300;308;300	ENSP00000348536:G300V;ENSP00000351520:G308V;ENSP00000408573:G300V	ENSP00000348536:G300V	G	-	2	0	ENTPD4	23353333	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.391000	0.79828	2.873000	0.98535	0.563000	0.77884	GGA		TCGA-HV-AA8V-01A-11D-A40W-08	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	1	0	0	45	381	0	112	0	8.511444e-01	0	31	0	112	2		0	0	0	0	0	2	1	1.000000	45	379	0	112	2								-15.876950	1	1	0	0		1	2	5	7	2.379566	1	0.130000	3.860000	0.343396	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADAM7	8756	broad.mit.edu	37	8	24324330	24324330	+	Silent	SNP	C	C	T	rs143068519	byFrequency	TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:24324330C>T	ENST00000175238.6	+	6	491	c.408C>T	c.(406-408)aaC>aaT	p.N136N	ADAM7_ENST00000380789.1_Silent_p.N136N|ADAM7_ENST00000441335.2_Silent_p.N136N|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7			64		Prostate(55;0.0181)			TCAGAATAAACGACCAAAGAT	0.373000																								0							SO:0001819	synonymous_variant			ENST00000175238.6	1	1	hg19	CCDS6045.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	1	0	0	24	399	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	24	394	0	97	2								-20.000000	1	1	121412	10	42	1	2	5	7	2.379566	1	0.130000	3.860000	0.343396	0.990000	0.770000	1.000000	1.000000	0.976968	0.990000	1	9.500000e-01	1
GPR124	25960	broad.mit.edu	37	8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124			37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		CAGCTGCCCCCGAGTCTATTC	0.647000																								0							SO:0001583	missense			ENST00000412232.2	1	1	hg19	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106064	0.77096	0.0	1.16E-4	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.57595	0.39	5.29	5.29	0.74685	.	0.201328	0.43579	D	0.000547	T	0.50222	0.1603	L	0.59436	1.845	0.80722	D	1	P	0.40681	0.727	B	0.33960	0.173	T	0.58792	-0.7574	10	0.62326	D	0.03	-27.3238	18.9399	0.92601	0.0:1.0:0.0:0.0	.	623	Q96PE1	GP124_HUMAN	L	616;623	ENSP00000406367:P623L	ENSP00000406367:P623L	P	+	2	0	GPR124	37812264	0.998000	0.40836	1.000000	0.80357	0.748000	0.42578	2.875000	0.48491	2.497000	0.84241	0.655000	0.94253	CCG		TCGA-HV-AA8V-01A-11D-A40W-08	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2	1	0	0	55	789	0	171	0	9.196754e-01	0	63	0	171	2		0	0	0	0	0	2	1	1.000000	54	755	0	168	2								-2.258096	0	1	121412	4	42	1	2	5	7	2.379566	1	0.130000	3.860000	0.343396	0.990000	0.990000	1.000000	1.000000	0.999075	0.990000	1	9.900000e-01	1
CLVS1	157807	broad.mit.edu	37	8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1			41					GAGAAAGCTCGCCTGGAACTG	0.433000																								0							SO:0001583	missense			ENST00000519846.1	1	1	hg19	CCDS6176.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	22.1	4.238068	0.79800	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.80653	-1.4;-1.4	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.68728	2.09	0.51482	D	0.99992	D;D;D	0.89917	1.0;0.995;0.999	D;D;P	0.67103	0.949;0.91;0.868	D	0.88451	0.3049	10	0.56958	D	0.05	-1.6018	20.0313	0.97540	0.0:0.0:1.0:0.0	.	39;39;39	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	H	39	ENSP00000428402:R39H;ENSP00000325506:R39H	ENSP00000325506:R39H	R	+	2	0	CLVS1	62375056	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.772000	0.55325	2.746000	0.94184	0.655000	0.94253	CGC		TCGA-HV-AA8V-01A-11D-A40W-08	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	1	0	0	23	256	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	1.000000	23	254	0	87	2								-20.000000	1	1	121408	62	50	1	1	2	3	2.013997	0	0.130000	3.860000	0.183099	0.990000	0.890000	1.000000	1.000000	0.993652	0.990000	1	9.900000e-01	1
CLDN23	137075	broad.mit.edu	37	8	8560232	8560232	+	Silent	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr8:8560232G>A	ENST00000519106.1	+	1	785	c.324G>A	c.(322-324)gaG>gaA	p.E108E		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23			2		Hepatocellular(245;0.217)			GGCAGGACGAGCCCAACTTCG	0.697000																								0							SO:0001819	synonymous_variant			ENST00000519106.1	1	1	hg19	CCDS55195.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	1	0	1	13	119	0	34	1	6.145632e-01	11	9	0	34	2		0	0	0	0	0	2	1	0.999562	12	117	0	34	2								-19.671100	1	1	0	0		1	1	2	3	1.900620	0	0.130000	3.860000	0.183099	0.990000	0.920000	1.000000	1.000000	0.995249	0.990000	1	9.900000e-01	1
ALDH1A1	216	broad.mit.edu	37	9	75531895	75531895	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:75531895G>A	ENST00000297785.3	-	9	1030	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	ALDH1A1_ENST00000376939.1_3'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1			17				Tretinoin(DB00755)|Vitamin A(DB00162)	TTCTTAGCCCGCTCAACACTC	0.458000																								0							SO:0001583	missense			ENST00000297785.3	0	1	hg19	CCDS6644.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767293	0.49574	.	.	ENSG00000165092	ENST00000297785	T	0.78003	-1.14	5.96	4.1	0.47936	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000001	D	0.89556	0.6749	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.91235	0.5017	10	0.87932	D	0	.	15.5066	0.75745	0.0:0.0:0.4719:0.5281	.	247;326	B4DDF8;P00352	.;AL1A1_HUMAN	W	326	ENSP00000297785:R326W	ENSP00000297785:R326W	R	-	1	2	ALDH1A1	74721715	0.000000	0.05858	0.988000	0.46212	0.417000	0.31264	0.133000	0.15912	0.834000	0.34852	-0.182000	0.12963	CGG		TCGA-HV-AA8V-01A-11D-A40W-08	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1	0	0	0	5	485	0	131	0	4.665339e-01	0	135	0	131	2		0	0	0	0	0	2	1	0.934747	5	476	0	131	2								-2.055238	0	1	121412	2	35	1	1	2	3	1.994920	0	0.130000	3.860000	0.183099	0.180000	0.060000	0.370000	0.160000	0.197993	0.180000	0	1.100000e-01	2.700000e-01
FOXB2	442425	broad.mit.edu	37	9	79635329	79635329	+	Silent	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chr9:79635329C>T	ENST00000376708.1	+	1	759	c.759C>T	c.(757-759)gcC>gcT	p.A253A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2			10					GCTCGgccgccgccgctgccg	0.746000																								0							SO:0001819	synonymous_variant			ENST00000376708.1	0	1	hg19	CCDS35045.1																																																																																				TCGA-HV-AA8V-01A-11D-A40W-08	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	0	0	0	4	87	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.865672	4	78	0	32	2								-8.273290	1	1	0	0		1	1	2	3	1.994920	0	0.130000	3.860000	0.183099	0.780000	0.270000	1.000000	1.000000	0.755049	0.780000	0	4.800000e-01	1
MORF4L2	9643	broad.mit.edu	37	X	102931572	102931572	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:102931572T>A	ENST00000441076.2	-	4	688	c.384A>T	c.(382-384)gaA>gaT	p.E128D	MORF4L2_ENST00000423833.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000433176.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000422154.2_Missense_Mutation_p.E128D|MORF4L2_ENST00000360458.1_Missense_Mutation_p.E128D|MORF4L2_ENST00000451301.1_Missense_Mutation_p.E128D	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2			13					ATGGTTTTAATTCTTCAGGAA	0.478000																								0							SO:0001583	missense			ENST00000441076.2	1	1	hg19	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178374	0.57692	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.9	4.58	0.833	0.18875	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.77406	2.37	0.49915	D	0.999839	D	0.55385	0.971	P	0.61722	0.893	T	0.03433	-1.1037	10	0.25106	T	0.35	-4.4154	7.0906	0.25282	0.0:0.4174:0.0:0.5826	.	128	Q15014	MO4L2_HUMAN	D	128;10;128;128;128;110;128;128;128;128;128	ENSP00000353643:E128D;ENSP00000361703:E10D;ENSP00000415476:E128D;ENSP00000394417:E128D;ENSP00000410532:E128D;ENSP00000391969:E128D;ENSP00000416120:E128D;ENSP00000413664:E128D;ENSP00000393283:E128D;ENSP00000400938:E128D	ENSP00000353643:E128D	E	-	3	2	MORF4L2	102818228	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	0.755000	0.26405	0.035000	0.15519	0.486000	0.48141	GAA		TCGA-HV-AA8V-01A-11D-A40W-08	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	1	0	1	94	648	0	258	1	1	47	135	0	258	2		0	0	0	0	0	2	1	1.000000	93	637	0	255	2								-20.000000	1	1	0	0		1	0	1	1			0.130000	3.860000	0.130000	0.920000	0.770000	1.000000	0.970000	0.918017	0.920000	1	8.500000e-01	9.800000e-01
PNMA5	114824	broad.mit.edu	37	X	152159280	152159280	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5			25	Acute lymphoblastic leukemia(192;6.56e-05)				ATGTTTCAGACGAATCATGTC	0.562000																								0							SO:0001583	missense			ENST00000439251.1	1	1	hg19	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	c	16.12	3.034229	0.54896	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	2.97	2.1	0.27182	.	.	.	.	.	T	0.26122	0.0637	M	0.84683	2.71	0.09310	N	1	P	0.48503	0.911	P	0.45343	0.477	T	0.18840	-1.0324	9	0.72032	D	0.01	-25.6602	5.2804	0.15673	0.0:0.8331:0.0:0.1669	.	288	Q96PV4	PNMA5_HUMAN	H	288	ENSP00000354834:R288H;ENSP00000445775:R288H;ENSP00000388850:R288H;ENSP00000392342:R288H	ENSP00000354834:R288H	R	-	2	0	PNMA5	151909936	0.906000	0.30813	0.023000	0.16930	0.160000	0.22226	0.939000	0.28978	0.669000	0.31146	0.287000	0.19450	CGT		TCGA-HV-AA8V-01A-11D-A40W-08	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	1	0	1	25	180	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	1.000000	25	175	0	53	2								-20.000000	1	1	121282	2	33	1	0	1	1			0.130000	3.860000	0.130000	0.850000	0.600000	0.990000	0.910000	0.841755	0.850000	1	7.200000e-01	9.500000e-01
MAGEB10	139422	broad.mit.edu	37	X	27839749	27839749	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-AA8V-01A-11D-A40W-08	TCGA-HV-AA8V-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b232a50f-86ac-46b8-b90f-97355698a754	a91f227e-e168-4f76-af62-e5e0aabcfb17	g.chrX:27839749G>T	ENST00000356790.2	+	3	571	c.326G>T	c.(325-327)gGc>gTc	p.G109V		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10			26					TTTCCCAGAGGCCCTGTAGAT	0.433000																								0							SO:0001583	missense			ENST00000356790.2	1	1	hg19	CCDS35221.1	.	.	.	.	.	.	.	.	.	.	G	6.997	0.554038	0.13374	.	.	ENSG00000177689	ENST00000356790	T	0.01725	4.67	2.62	-1.12	0.09808	.	2.059270	0.02888	U	0.133736	T	0.02688	0.0081	L	0.58669	1.825	0.09310	N	1	P	0.42827	0.791	B	0.39419	0.299	T	0.37709	-0.9694	10	0.87932	D	0	.	2.8839	0.05656	0.4159:0.2379:0.3461:0.0	.	109	Q96LZ2	MAGBA_HUMAN	V	109	ENSP00000368304:G109V	ENSP00000368304:G109V	G	+	2	0	MAGEB10	27749670	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.294000	0.19047	-0.403000	0.07622	0.422000	0.28245	GGC		TCGA-HV-AA8V-01A-11D-A40W-08	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	1	0	1	13	59	0	24		0	0	0	0	24	2		0	0	0	0	0	2	1	0.999642	12	58	0	24	2								-19.999860	1	1	0	0		1	0	1	1			0.130000	3.860000	0.130000	0.890000	0.610000	1.000000	0.990000	0.874589	0.890000	1	7.600000e-01	9.700000e-01
