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
BRCA2	675	broad.mit.edu	37	13	32937480	32937480	+	Frame_Shift_Del	DEL	A	A	-	rs80359059		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:32937480delA	ENST00000380152.3	+	18	8374	c.8141delA	c.(8140-8142)caafs	p.Q2714fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.Q2714fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset			183		Lung SC(185;0.0262)			GCAGATACCCAAAAAGTGGCC	0.398000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0							SO:0001589	frameshift_variant	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000380152.3	1	0	hg19	CCDS9344.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	1	0	0	113	457	0	157	0	1.802622e-01	0	4	0	157	2	1	1	199	640	1	978	5	1	1.000000	127	454	11	156	56								-2.970215	1	1	0	0		1	0	1	1	1.989277	0	0.700000	2	0.698946	0.560000	4.700000e-01	0.660000	0.560000	0.567008	0.560000	0	5.100000e-01	6.100000e-01
TNRC6C	57690	broad.mit.edu	37	17	76047129	76047153	+	Frame_Shift_Del	DEL	CCCCCAACAGAACTGGGCTAGCAAA	CCCCCAACAGAACTGGGCTAGCAAA	-	rs114241857	by1000genomes	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:76047129_76047153delCCCCCAACAGAACTGGGCTAGCAAA	ENST00000588061.1	+	5	2713_2737	c.1986_2010delCCCCCAACAGAACTGGGCTAGCAAA	c.(1984-2010)ggcccccaacagaactgggctagcaaafs	p.GPQQNWASK662fs	TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.GPQQNWASK662fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.GPQQNWASK662fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C			40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		TAAAACCTGGCCCCCAACAGAACTGGGCTAGCAAACCCCAAGACA	0.538000																								0							SO:0001589	frameshift_variant			ENST00000588061.1	0	1	hg19	CCDS45798.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	1	0	0	9	70	0	20	0	3.524145e-01	0	10	0	20	2			0	0	0	0		1	0.999242	27	86	0	20	2								-15.673500	1	1	0	0		1	1	2	3	2.677864	1	0.700000	2	0.777778	0.450000	2.200000e-01	0.750000	0.450000	0.474433	0.450000	0	3.300000e-01	6.100000e-01
PRSS1	5644	broad.mit.edu	37	7	142459745	142459747	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			CAT	-	CAT	CAT		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:142459745_142459747delCAT	ENST00000311737.7	+	3	327_329	c.321_323delCAT	c.(319-324)gacatc>gac	p.I108del	PRSS1_ENST00000486171.1_In_Frame_Del_p.I122del	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)			38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)	Aprotinin(DB06692)	TGAACAATGACATCATGTTAATC	0.547000																								0							SO:0001651	inframe_deletion			ENST00000311737.7	1	1	hg19	CCDS5872.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2	1	0	0	241	728	0	140	1	8.703207e-01	2	11	0	140	2	1	1	710	1974	2	2111	9	1	1.000000	271	660	4	126	49								-20.000000	1	0	0	0		1	1	2	3	2.507732	1	0.700000	2	0.760383	0.900000	7.900000e-01	1.000000	0.890000	0.912016	0.900000	1	8.400000e-01	1
ABCA1	19	broad.mit.edu	37	9	107591266	107591282	+	Frame_Shift_Del	DEL	CCAGAGGATGCTGTTGT	CCAGAGGATGCTGTTGT	-	rs144845639	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:107591266_107591282delCCAGAGGATGCTGTTGT	ENST00000374736.3	-	15	2424_2440	c.2030_2046delACAACAGCATCCTCTGG	c.(2029-2046)gacaacagcatcctctggfs	p.DNSILW677fs	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1			115				Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ACCAGCTAAACCAGAGGATGCTGTTGTCCAGGCCCAT	0.539000																								0							SO:0001589	frameshift_variant			ENST00000374736.3	0	1	hg19	CCDS6762.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	1	0	0	21	179	0	42	0	1.233966e-02	0	2	0	42	2			0	0	0	0		1	0.659346	60	217	2	44	27								-20.000000	1	1	0	0		1	1	2	3	2.013462	0	0.700000	2	0.701046	0.300000	1.900000e-01	0.450000	0.300000	0.311601	0.300000	0	2.400000e-01	3.700000e-01
BIRC2	329	broad.mit.edu	37	11	102221640	102221640	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:102221640G>C	ENST00000227758.2	+	3	2360	c.961G>C	c.(961-963)Gat>Cat	p.D321H	BIRC2_ENST00000532672.1_Missense_Mutation_p.D300H|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.D272H	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2			26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)		ATCTGGAGATGATCCATGGGT	0.383000																								0							SO:0001583	missense			ENST00000227758.2	0	1	hg19	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175075	0.78564	.	.	ENSG00000110330	ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T	0.05786	3.39;3.39;3.39	5.86	5.86	0.93980	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	H	0.94306	3.52	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52238	-0.8602	10	0.87932	D	0	-17.6801	20.2019	0.98263	0.0:0.0:1.0:0.0	.	321	Q13490	BIRC2_HUMAN	H	272;321;321;300	ENSP00000431723:D272H;ENSP00000227758:D321H;ENSP00000434979:D300H	ENSP00000227758:D321H	D	+	1	0	BIRC2	101726850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.428000	0.73383	2.776000	0.95493	0.655000	0.94253	GAT		TCGA-FB-AAPU-01A-31D-A40W-08	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	0	0	0	11	683	0	163	1	5.249592e-01	3	102	0	163	2		0	0	0	0	0	2	1	0.998132	11	668	0	161	2								-2.584069	1	1	0	0		1	0	0	0	1.997612	0	0.700000	2	0.700000	0.040000	1.000000e-02	0.080000	0.040000	0.049344	0.040000	0	2.000000e-02	6.000000e-02
AMPD3	272	broad.mit.edu	37	11	10500085	10500085	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:10500085C>G	ENST00000396554.3	+	3	602	c.261C>G	c.(259-261)ttC>ttG	p.F87L	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3			25					AGAAAAGTTTCAAGATGATTC	0.537000																								0							SO:0001583	missense			ENST00000396554.3	1	1	hg19	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538677	0.45176	.	.	ENSG00000133805	ENST00000532250;ENST00000396554;ENST00000524866;ENST00000396553;ENST00000528723;ENST00000529507	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.6	3.69	0.42338	.	0.092497	0.85682	D	0.000000	T	0.36441	0.0967	L	0.47716	1.5	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.10917	-1.0609	10	0.18276	T	0.48	-21.7032	8.8973	0.35472	0.0:0.7682:0.0:0.2318	.	85;78;87	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	L	78;87;78;78;85;78	ENSP00000432707:F78L;ENSP00000379802:F87L;ENSP00000433284:F78L;ENSP00000379801:F78L;ENSP00000436987:F85L;ENSP00000431648:F78L	ENSP00000379801:F78L	F	+	3	2	AMPD3	10456661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.165000	0.31822	0.690000	0.31570	0.643000	0.83706	TTC		TCGA-FB-AAPU-01A-31D-A40W-08	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	0	0	0	33	1081	0	271	0	8.915581e-03	1	4	0	271	2		0	0	0	0	0	2	1	1.000000	33	1065	0	269	2								-3.058579	1	1	121410	1	40	1	0	0	0	2.001647	0	0.700000	2	0.700000	0.080000	4.000000e-02	0.120000	0.080000	0.087016	0.080000	0	6.000000e-02	1.000000e-01
KCNC1	3746	broad.mit.edu	37	11	17794037	17794037	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:17794037C>A	ENST00000379472.3	+	2	1426	c.1396C>A	c.(1396-1398)Ctg>Atg	p.L466M	KCNC1_ENST00000265969.6_Missense_Mutation_p.L466M	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1			33				Dalfampridine(DB06637)	GCCACCGCAGCTGGGATCTCC	0.448000																								0							SO:0001583	missense			ENST00000379472.3	1	1	hg19	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639495	0.29157	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97279	-4.32;-4.3	5.24	5.24	0.73138	.	0.155348	0.45606	D	0.000355	D	0.96978	0.9013	L	0.39020	1.185	0.49915	D	0.999838	B;D	0.60160	0.116;0.987	B;P	0.61070	0.062;0.883	D	0.96559	0.9414	10	0.35671	T	0.21	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	466;466	Q3KNS8;P48547	.;KCNC1_HUMAN	M	466	ENSP00000265969:L466M;ENSP00000368785:L466M	ENSP00000265969:L466M	L	+	1	2	KCNC1	17750613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.445000	0.82738	0.561000	0.74099	CTG		TCGA-FB-AAPU-01A-31D-A40W-08	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	1	0	1	88	173	0	75		0	0	0	0	75	2		0	0	0	0	0	2	1	1.000000	85	170	0	75	2								-20.000000	1	1	0	0		1	0	0	0	2.001647	0	0.700000	2	0.700000	0.950000	7.900000e-01	1.000000	1.000000	0.946332	0.950000	1	8.700000e-01	1
OR56A3	390083	broad.mit.edu	37	11	5969013	5969013	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:5969013T>A	ENST00000329564.6	+	1	444	c.437T>A	c.(436-438)gTc>gAc	p.V146D	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3			41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)			CACTTTGTAGTCAAGGCTGCC	0.448000																								0							SO:0001583	missense			ENST00000329564.6	1	1	hg19	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	T	4.194	0.034682	0.08101	.	.	ENSG00000184478	ENST00000329564	T	0.39406	1.08	5.13	-0.302	0.12796	GPCR, rhodopsin-like superfamily (1);	0.277746	0.18223	U	0.147820	T	0.43809	0.1264	M	0.82056	2.57	0.18873	N	0.999989	B	0.26041	0.14	B	0.34779	0.189	T	0.48927	-0.8991	10	0.72032	D	0.01	-6.0991	5.5314	0.16987	0.1326:0.4555:0.0:0.4119	.	146	Q8NH54	O56A3_HUMAN	D	146	ENSP00000331572:V146D	ENSP00000331572:V146D	V	+	2	0	OR56A3	5925589	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.036000	0.00308	-0.225000	0.09913	-1.200000	0.01667	GTC		TCGA-FB-AAPU-01A-31D-A40W-08	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	1	0	1	147	309	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	1.000000	146	304	0	137	2								-20.000000	1	1	0	0		1	0	0	0	2.001647	0	0.700000	2	0.700000	0.910000	7.900000e-01	1.000000	1.000000	0.918971	0.910000	1	8.500000e-01	9.800000e-01
UCP3	7352	broad.mit.edu	37	11	73718034	73718034	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:73718034C>T	ENST00000314032.4	-	2	606	c.54G>A	c.(52-54)ctG>ctA	p.L18L	UCP3_ENST00000348534.4_Silent_p.L18L|UCP3_ENST00000426995.2_Silent_p.L18L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)			12	Breast(11;2.08e-05)				TGCCTGCCCCCAGGAACTTCA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000314032.4	1	1	hg19	CCDS8229.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	1	0	1	42	84	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1.000000	42	83	0	26	2								-20.000000	1	1	0	0		1	0	0	0	1.997612	0	0.700000	2	0.700000	0.940000	7.200000e-01	1.000000	1.000000	0.927447	0.940000	1	8.300000e-01	1
EIF3F	8665	broad.mit.edu	37	11	8014505	8014505	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr11:8014505A>C	ENST00000533626.1	+	6	1213	c.587A>C	c.(586-588)aAc>aCc	p.N196T	EIF3F_ENST00000309828.4_Missense_Mutation_p.N196T|EIF3F_ENST00000449102.2_Missense_Mutation_p.N47T|EIF3F_ENST00000537635.1_Missense_Mutation_p.N211T					eukaryotic translation initiation factor 3, subunit F			13					GAGGCCCCCAACCCCATCCAC	0.557000																								0							SO:0001583	missense			ENST00000533626.1	0	1	hg19	CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586482	0.86851	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.47869	1.39;1.39;1.39;0.83	4.97	4.97	0.65823	.	0.042963	0.85682	D	0.000000	T	0.67221	0.2870	M	0.77406	2.37	0.80722	D	1	D	0.56521	0.976	D	0.67725	0.953	T	0.71490	-0.4577	10	0.66056	D	0.02	-18.8904	13.2394	0.59987	1.0:0.0:0.0:0.0	.	196	O00303	EIF3F_HUMAN	T	196;211;196;146;47	ENSP00000431800:N196T;ENSP00000442283:N211T;ENSP00000310040:N196T;ENSP00000396929:N47T	ENSP00000310040:N196T	N	+	2	0	EIF3F	7971081	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.162000	0.58177	2.158000	0.67659	0.460000	0.39030	AAC		TCGA-FB-AAPU-01A-31D-A40W-08	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	0	0	0	9	370	1	83	0	1.390535e-01	19	578	1	83	23		0	0	0	0	0	2	0	0.105819	9	367	1	85	16								-9.057876	1	1	0	0		1	0	0	0	2.001647	0	0.700000	2	0.700000	0.060000	2.000000e-02	0.120000	0.070000	0.074884	0.060000	0	4.000000e-02	1.000000e-01
RAD52	5893	broad.mit.edu	37	12	1023204	1023204	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:1023204G>C	ENST00000358495.3	-	11	1189	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Missense_Mutation_p.P351A|RAD52_ENST00000539046.1_Missense_Mutation_p.P274A	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)			19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		GTCTGGGCTGGGTCTGCTCTA	0.527000								Homologous recombination																0							SO:0001583	missense			ENST00000358495.3	0	1	hg19	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438716	0.25900	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.36878	1.65;1.65;1.23	5.11	1.13	0.20643	.	0.341611	0.34245	N	0.004125	T	0.28001	0.0690	L	0.52364	1.645	0.19300	N	0.999976	B	0.09022	0.002	B	0.08055	0.003	T	0.23332	-1.0191	10	0.59425	D	0.04	-14.8336	6.5135	0.22234	0.163:0.2837:0.5532:0.0	.	351	P43351	RAD52_HUMAN	A	351;351;274	ENSP00000351284:P351A;ENSP00000387901:P351A;ENSP00000445245:P274A	ENSP00000351284:P351A	P	-	1	0	RAD52	893465	0.000000	0.05858	0.014000	0.15608	0.007000	0.05969	-0.129000	0.10515	0.378000	0.24764	0.561000	0.74099	CCA		TCGA-FB-AAPU-01A-31D-A40W-08	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	0	0	0	10	350	0	73	0	1.466164e-01	0	22	0	73	2		0	0	0	0	0	2	1	0.996758	9	346	0	72	2								-2.988197	1	1	0	0		1	1	3	4	2.833998	1	0.700000	2	0.786629	0.120000	5.000000e-02	1.000000	0.120000	0.329215	0.120000	0	8.000000e-02	1
CABP1	9478	broad.mit.edu	37	12	121098645	121098645	+	Splice_Site	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:121098645T>C	ENST00000316803.3	+	4	1073		c.e4+2		CABP1_ENST00000453000.1_Splice_Site|CABP1_ENST00000351200.2_Splice_Site|CABP1_ENST00000288616.3_Splice_Site	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1			9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)				TTCCGAGAGGTAACGGACAGA	0.498000																								0							SO:0001630	splice_region_variant			ENST00000316803.3	1	1	hg19	CCDS31913.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177845	0.57692	.	.	ENSG00000157782	ENST00000316803;ENST00000288616;ENST00000351200;ENST00000453000	.	.	.	5.25	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0835	0.25244	0.1314:0.0726:0.0:0.796	.	.	.	.	.	-1	.	.	.	+	.	.	CABP1	119583028	0.809000	0.29036	0.875000	0.34327	0.825000	0.46686	0.594000	0.24014	0.850000	0.35239	0.528000	0.53228	.		TCGA-FB-AAPU-01A-31D-A40W-08	CABP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345822.1	1	0	0	23	297	0	102		0	0	0	0	102	2		0	0	0	0	0	2	1	0.999999	23	294	0	101	2								-20.000000	1	1	0	0		1	0	0	0	1.987351	0	0.700000	2	0.697885	0.200000	1.300000e-01	0.290000	0.200000	0.211182	0.200000	0	1.600000e-01	2.500000e-01
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	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-FB-AAPU-01A-31D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	47	89	0	48	1	1	45	31	0	48	2	1	1	90	246	0	642	2	1	1.000000	47	89	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.011295	0	0.700000	2	0.701046	0.980000	7.600000e-01	1.000000	1.000000	0.950762	0.980000	1	8.700000e-01	1
TULP3	7289	broad.mit.edu	37	12	3042674	3042674	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr12:3042674G>A	ENST00000448120.2	+	7	838	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	TULP3_ENST00000397132.2_Missense_Mutation_p.E263K	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3			22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)		TCGTGAAGGAGAAAGTTATGT	0.398000																								0							SO:0001583	missense			ENST00000448120.2	1	1	hg19	CCDS8519.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082869	0.76642	.	.	ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132	D;D	0.85702	-2.02;-2.02	5.3	3.42	0.39159	Tubby, C-terminal (4);	0.254970	0.46442	D	0.000292	D	0.88775	0.6528	M	0.72479	2.2	0.50632	D	0.999881	P;P;D	0.59357	0.755;0.868;0.985	P;P;P	0.59288	0.752;0.854;0.855	D	0.87634	0.2518	10	0.72032	D	0.01	-0.7952	9.1654	0.37048	0.0765:0.0:0.7778:0.1457	.	120;263;263	B7Z1E7;O75386;F8WBZ9	.;TULP3_HUMAN;.	K	263;120;263;263	ENSP00000410051:E263K;ENSP00000380321:E263K	ENSP00000228245:E263K	E	+	1	0	TULP3	2912935	1.000000	0.71417	0.878000	0.34440	0.654000	0.38779	7.869000	0.87170	0.573000	0.29400	0.561000	0.74099	GAA		TCGA-FB-AAPU-01A-31D-A40W-08	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1	1	0	1	51	113	0	44	1	9.996761e-01	15	16	0	44	2		0	0	0	0	0	2	1	1.000000	51	110	0	44	2								-20.000000	1	1	0	0		1	0	0	0	1.997446	0	0.700000	2	0.700000	0.880000	6.900000e-01	1.000000	1.000000	0.884371	0.880000	1	7.800000e-01	9.900000e-01
OXGR1	27199	broad.mit.edu	37	13	97639242	97639242	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr13:97639242G>T	ENST00000298440.1	-	4	1015	c.772C>A	c.(772-774)Cat>Aat	p.H258N	OXGR1_ENST00000543457.1_Missense_Mutation_p.H258N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1			15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)		CTCAAGATATGGAAGGGTAAA	0.438000																								0							SO:0001583	missense			ENST00000298440.1	0	1	hg19	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617808	0.66787	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38077	1.16;1.16	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47911	0.1471	L	0.42581	1.335	0.39180	D	0.962769	D	0.89917	1.0	D	0.91635	0.999	T	0.22347	-1.0219	10	0.06757	T	0.87	.	15.3005	0.73945	0.0:0.0:0.8601:0.1399	.	258	Q96P68	OXGR1_HUMAN	N	258	ENSP00000298440:H258N;ENSP00000438800:H258N	ENSP00000298440:H258N	H	-	1	0	OXGR1	96437243	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.455000	0.73497	2.937000	0.99478	0.650000	0.86243	CAT		TCGA-FB-AAPU-01A-31D-A40W-08	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	0	0	0	6	268	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	0.963408	6	263	0	68	2								-3.473646	1	1	0	0		1	1	2	3	2.101185	1	0.700000	2	0.721448	0.070000	2.000000e-02	1.000000	0.070000	0.228548	0.070000	0	4.000000e-02	1
POTEG	404785	broad.mit.edu	37	14	19566012	19566012	+	Splice_Site	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:19566012A>C	ENST00000409832.3	+	6	1108	c.1056A>C	c.(1054-1056)gtA>gtC	p.V352V	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G			47					TTATACATAGAATTTGCCAGT	0.269000																								0							SO:0001630	splice_region_variant			ENST00000409832.3	0	1	hg19	CCDS32018.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	0	0	0	4	313	0	114		0	0	0	0	114	2		0	0	0	0	0	2	0	0.650224	1	158	0	123	2								-5.541767	1	0	119882	5	26	1	0	0	0	1.422466	1	0.700000	2	0.579243	0.020000	0	0.060000	0.030000	0.031733	0.020000	0	1.000000e-02	5.000000e-02
MAP4K5	11183	broad.mit.edu	37	14	50911762	50911762	+	Missense_Mutation	SNP	T	T	C	rs55815015	byFrequency	TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:50911762T>C	ENST00000013125.4	-	18	1654	c.1336A>G	c.(1336-1338)Att>Gtt	p.I446V		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5			15	all_epithelial(31;0.000415)|Breast(41;0.0102)				GCCATACCAATAGAAGAAGTC	0.413000																								0							SO:0001583	missense			ENST00000013125.4	1	1	hg19		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	T	8.406	0.843090	0.16963	.	.	ENSG00000012983	ENST00000013125	T	0.13657	2.57	5.38	-0.756	0.11057	Protein kinase-like domain (1);	0.528155	0.20244	N	0.096221	T	0.03095	0.0091	N	0.08118	0	0.36535	D	0.870936	B;B;B	0.12013	0.005;0.005;0.005	B;B;B	0.09377	0.004;0.004;0.004	T	0.41305	-0.9516	10	0.15952	T	0.53	.	4.6228	0.12463	0.1045:0.0688:0.2378:0.5889	rs55815015	120;446;446	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	446	ENSP00000013125:I446V	ENSP00000013125:I446V	I	-	1	0	MAP4K5	49981512	0.750000	0.28316	0.991000	0.47740	0.887000	0.51463	-0.221000	0.09202	-0.008000	0.14320	-0.323000	0.08544	ATT		TCGA-FB-AAPU-01A-31D-A40W-08	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	1	0	0	11	126	0	44	1	8.612261e-01	7	36	0	44	2		0	0	0	0	0	2	1	0.998366	11	123	0	44	2								-6.780243	1	1	0	0		1	0	0	0	1.985127	0	0.700000	2	0.697885	0.230000	1.200000e-01	0.380000	0.230000	0.244166	0.230000	0	1.700000e-01	3.100000e-01
BDKRB2	624	broad.mit.edu	37	14	96703485	96703485	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr14:96703485G>A	ENST00000306005.3	+	2	237	c.41G>A	c.(40-42)cGt>cAt	p.R14H	BDKRB2_ENST00000539359.1_5'UTR|BDKRB2_ENST00000542454.2_5'UTR|RP11-404P21.8_ENST00000553811.1_Missense_Mutation_p.R14H|BDKRB2_ENST00000554311.1_Missense_Mutation_p.R14H	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2			24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		Icatibant(DB06196)	CTGTCTGTTCGTGAGGACTCC	0.527000																								0							SO:0001583	missense			ENST00000306005.3	1	1	hg19	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247970	0.39697	.	.	ENSG00000168398;ENSG00000168398;ENSG00000258691	ENST00000554311;ENST00000306005;ENST00000553811	T;T;T	0.71934	-0.61;-0.61;1.71	3.71	-2.22	0.06952	.	2.399830	0.01945	N	0.042183	T	0.41050	0.1142	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	10	0.05351	T	0.99	.	0.5426	0.00648	0.3331:0.1884:0.2948:0.1837	.	14	P30411	BKRB2_HUMAN	H	14	ENSP00000450482:R14H;ENSP00000307713:R14H;ENSP00000450984:R14H	ENSP00000307713:R14H	R	+	2	0	RP11-404P21.8;BDKRB2	95773238	0.019000	0.18553	0.000000	0.03702	0.002000	0.02628	-0.001000	0.12947	-0.415000	0.07484	-1.880000	0.00545	CGT		TCGA-FB-AAPU-01A-31D-A40W-08	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1	0	0	0	7	210	1	80	0	6.409125e-02	1	23	1	80	3		0	0	0	0	0	2	0	0.229490	7	209	1	80	11								-3.120890	1	1	121412	1	40	1	0	1	1	1.365525	1	0.700000	2	0.540933	0.060000	2.000000e-02	0.120000	0.060000	0.067943	0.060000	0	3.000000e-02	9.000000e-02
CPEB1	64506	broad.mit.edu	37	15	83215935	83215935	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr15:83215935G>T	ENST00000562019.1	-	10	1783	c.1467C>A	c.(1465-1467)agC>agA	p.S489R	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.A219E|CPEB1_ENST00000563800.1_Missense_Mutation_p.S511R|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Missense_Mutation_p.S409R|CPEB1_ENST00000398591.2_Missense_Mutation_p.S414R|CPEB1_ENST00000568128.1_Missense_Mutation_p.S484R|CPEB1_ENST00000568757.1_Missense_Mutation_p.S409R|CPEB1_ENST00000261723.6_Missense_Mutation_p.S487R|CPEB1_ENST00000398592.2_Missense_Mutation_p.S258R|CPEB1_ENST00000450751.2_Missense_Mutation_p.S409R|CPEB1_ENST00000423133.2_Missense_Mutation_p.S409R			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1			28			BRCA - Breast invasive adenocarcinoma(143;0.229)		CAAAAGCAGCGCTGACTGCTT	0.463000																								0							SO:0001583	missense			ENST00000562019.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	14.03	2.412804	0.42817	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.18	-2.21	0.06973	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.284954	0.37348	U	0.002129	T	0.10723	0.0262	N	0.14661	0.345	0.44736	D	0.997731	B;B;B;B	0.25351	0.124;0.024;0.021;0.024	B;B;B;B	0.20184	0.015;0.01;0.028;0.01	T	0.08493	-1.0719	10	0.54805	T	0.06	-7.0429	11.4101	0.49921	0.5705:0.0:0.4295:0.0	.	487;484;489;484	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	R	484;484;409;414;487;258	ENSP00000397526:S409R;ENSP00000381591:S414R;ENSP00000261723:S487R;ENSP00000381592:S258R	ENSP00000261723:S487R	S	-	3	2	CPEB1	81012990	0.145000	0.22656	0.984000	0.44739	0.985000	0.73830	-0.371000	0.07513	-0.518000	0.06452	-0.423000	0.05987	AGC		TCGA-FB-AAPU-01A-31D-A40W-08	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	1	0	0	207	169	0	83	0	3.002625e-01	0	2	0	83	2		0	0	0	0	0	2	1	1.000000	205	168	0	83	2								-20.000000	1	1	0	0		1	1	3	4	3.164811	1	0.700000	2	0.813549	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CDH8	1006	broad.mit.edu	37	16	62055298	62055298	+	Missense_Mutation	SNP	G	G	A	rs139797882		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr16:62055298G>A	ENST00000577390.1	-	2	964	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	CDH8_ENST00000577730.1_Missense_Mutation_p.R4W|CDH8_ENST00000299345.6_Missense_Mutation_p.R4W|CDH8_ENST00000584337.1_Missense_Mutation_p.R4W	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2			112		Ovarian(137;0.0799)|Melanoma(118;0.16)			TCCGCTAGCCGTTCTGGCATG	0.443000																								0							SO:0001583	missense			ENST00000577390.1	1	1	hg19	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920100	0.73098	.	.	ENSG00000150394	ENST00000299345	T	0.59083	0.29	6.17	5.2	0.72013	.	0.068663	0.64402	D	0.000020	T	0.69360	0.3102	L	0.47716	1.5	0.39308	D	0.965029	D	0.89917	1.0	D	0.77557	0.99	T	0.73792	-0.3871	10	0.87932	D	0	.	13.5257	0.61593	0.0:0.0:0.5605:0.4395	.	4	P55286	CADH8_HUMAN	W	4	ENSP00000299345:R4W	ENSP00000299345:R4W	R	-	1	2	CDH8	60612799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.750000	0.47500	1.564000	0.49628	0.655000	0.94253	CGG		TCGA-FB-AAPU-01A-31D-A40W-08	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	1	0	1	35	290	0	103		0	0	0	0	103	2		0	0	0	0	0	2	1	1.000000	33	285	0	102	2								-3.318796	1	1	0	0		1	0	0	0	2.004961	0	0.700000	2	0.700000	0.300000	2.100000e-01	0.410000	0.300000	0.314121	0.300000	0	2.500000e-01	3.600000e-01
MEOX1	4222	broad.mit.edu	37	17	41738449	41738449	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:41738449T>C	ENST00000318579.4	-	1	873	c.454A>G	c.(454-456)Aga>Gga	p.R152G	MEOX1_ENST00000329168.3_Missense_Mutation_p.R152G|MEOX1_ENST00000549132.1_Silent_p.G122G|MEOX1_ENST00000393661.2_Missense_Mutation_p.R37G	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1			8		Breast(137;0.00908)			CTCTCCTTTCTCCGCCTGGAT	0.572000																								0							SO:0001583	missense			ENST00000318579.4	1	1	hg19	CCDS11466.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857712	0.51376	.	.	ENSG00000005102	ENST00000318579;ENST00000329168;ENST00000393661	D;T;D	0.91180	-2.8;0.64;-2.78	4.99	4.99	0.66335	.	0.048523	0.85682	D	0.000000	T	0.82135	0.4971	N	0.14661	0.345	0.37695	D	0.923982	B;B	0.29835	0.152;0.258	B;B	0.26969	0.023;0.075	T	0.83253	-0.0052	10	0.48119	T	0.1	-25.6858	13.4121	0.60948	0.0:0.0:0.0:1.0	.	152;152	Q15069;P50221	.;MEOX1_HUMAN	G	152;152;37	ENSP00000321684:R152G;ENSP00000328678:R152G;ENSP00000377271:R37G	ENSP00000321684:R152G	R	-	1	2	MEOX1	39093975	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.734000	0.74801	2.092000	0.63282	0.533000	0.62120	AGA		TCGA-FB-AAPU-01A-31D-A40W-08	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1	0	0	0	19	790	0	178	0	3.690088e-03	0	4	0	178	2		0	0	0	0	0	2	1	0.999989	19	781	0	174	2								-14.375500	1	1	0	0		1	0	0	0	1.996979	0	0.700000	2	0.700000	0.060000	3.000000e-02	0.100000	0.060000	0.070436	0.060000	0	4.000000e-02	9.000000e-02
B4GALNT2	124872	broad.mit.edu	37	17	47230177	47230177	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:47230177C>T	ENST00000300404.2	+	4	608	c.549C>T	c.(547-549)cgC>cgT	p.R183R	B4GALNT2_ENST00000393354.2_Silent_p.R123R|B4GALNT2_ENST00000504681.1_Silent_p.R97R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2			24			all cancers(6;0.000316)		GGCTGCCCCGCCCACTGCCCC	0.617000													GBM(124;244 1635 8663 18097 33175)											0							SO:0001819	synonymous_variant			ENST00000300404.2	1	1	hg19	CCDS11544.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	1	0	1	13	27	0	20		0	0	0	0	20	2		0	0	0	0	0	2	1	0.999740	13	25	0	20	2								-20.000000	1	1	0	0		1	0	0	0	1.996979	0	0.700000	2	0.700000	0.920000	5.600000e-01	1.000000	1.000000	0.885801	0.920000	1	7.300000e-01	1
HELZ	9931	broad.mit.edu	37	17	65163782	65163782	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:65163782T>A	ENST00000358691.5	-	14	1727	c.1561A>T	c.(1561-1563)Act>Tct	p.T521S	HELZ_ENST00000580168.1_Missense_Mutation_p.T521S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger			69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)				CCAGCCAAAGTATCTTCAGAA	0.433000																								0							SO:0001583	missense			ENST00000358691.5	1	1	hg19	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885504	0.51908	.	.	ENSG00000198265	ENST00000358691	D	0.85484	-1.99	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.56280	1.765	0.80722	D	1	D;P	0.76494	0.999;0.922	D;P	0.68192	0.956;0.655	D	0.90316	0.4341	10	0.52906	T	0.07	-16.6549	15.4547	0.75302	0.0:0.0:0.0:1.0	.	521;521	B7ZLW2;P42694	.;HELZ_HUMAN	S	521	ENSP00000351524:T521S	ENSP00000351524:T521S	T	-	1	0	HELZ	62594244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.662000	0.68032	2.045000	0.60652	0.460000	0.39030	ACT		TCGA-FB-AAPU-01A-31D-A40W-08	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	0	0	0	11	379	0	99	0	1.370005e-01	1	20	0	99	2		0	0	0	0	0	2	1	0.998292	11	375	0	99	2								-11.152460	1	1	0	0		1	1	2	3	2.677864	1	0.700000	2	0.777778	0.110000	4.000000e-02	0.190000	0.120000	0.117974	0.110000	0	7.000000e-02	1.500000e-01
WIPI1	55062	broad.mit.edu	37	17	66430712	66430712	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430712C>A	ENST00000262139.5	-	7	676	c.677G>T	c.(676-678)cGg>cTg	p.R226L	WIPI1_ENST00000546360.1_Missense_Mutation_p.R144L|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1			18					CATCCCTCTCCGGAACTCATA	0.512000																								0							SO:0001583	missense			ENST00000262139.5	1	1	hg19	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322237	0.81580	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.52057	0.68;2.32	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.116368	0.56097	D	0.000025	T	0.65565	0.2703	H	0.95043	3.615	0.80722	D	1	P	0.35328	0.495	B	0.35931	0.214	T	0.75673	-0.3236	10	0.72032	D	0.01	-15.4145	19.0599	0.93085	0.0:1.0:0.0:0.0	.	226	Q5MNZ9	WIPI1_HUMAN	L	226;144	ENSP00000262139:R226L;ENSP00000437345:R144L	ENSP00000262139:R226L	R	-	2	0	WIPI1	63942307	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	CGG		TCGA-FB-AAPU-01A-31D-A40W-08	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	1	0	1	57	182	0	39	1	1	22	70	0	39	2		0	0	0	0	0	2	1	1.000000	57	180	0	39	2								-3.828835	1	1	0	0		1	1	2	3	2.677864	1	0.700000	2	0.777778	0.910000	7.200000e-01	1.000000	1.000000	0.910945	0.910000	1	8.100000e-01	1
WIPI1	55062	broad.mit.edu	37	17	66430734	66430734	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:66430734C>A	ENST00000262139.5	-	7	654	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G137W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1			18					AGCTTTTGCCCATCAGGGACA	0.498000																								0							SO:0001583	missense			ENST00000262139.5	1	1	hg19	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559525	0.86335	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.57595	0.39;2.03	5.32	5.32	0.75619	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.105797	0.64402	D	0.000004	T	0.80788	0.4690	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85997	0.1492	10	0.87932	D	0	-22.2488	19.0599	0.93085	0.0:1.0:0.0:0.0	.	219	Q5MNZ9	WIPI1_HUMAN	W	219;137	ENSP00000262139:G219W;ENSP00000437345:G137W	ENSP00000262139:G219W	G	-	1	0	WIPI1	63942329	1.000000	0.71417	0.936000	0.37596	0.891000	0.51852	7.326000	0.79133	2.505000	0.84491	0.485000	0.47835	GGG		TCGA-FB-AAPU-01A-31D-A40W-08	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	1	0	1	51	174	0	35	1	9.999994e-01	24	54	0	35	2		0	0	0	0	0	2	1	1.000000	51	173	0	35	2								-3.496361	1	0	0	0		1	1	2	3	2.677864	1	0.700000	2	0.777778	0.870000	6.700000e-01	1.000000	1.000000	0.874206	0.870000	1	7.600000e-01	9.900000e-01
KIAA0195	9772	broad.mit.edu	37	17	73488859	73488859	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr17:73488859C>T	ENST00000314256.7	+	15	2295	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	KIAA0195_ENST00000579208.1_Missense_Mutation_p.A285V|KIAA0195_ENST00000375248.5_Missense_Mutation_p.A644V	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195			42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		TGCGAGCTTGCCCGCCTCATT	0.647000																								0							SO:0001583	missense			ENST00000314256.7	0	1	hg19	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088956	0.55968	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.87650	-2.28;-2.28	5.77	5.77	0.91146	.	0.053643	0.85682	D	0.000000	D	0.86251	0.5888	L	0.54323	1.7	0.80722	D	1	B;B;B	0.34329	0.079;0.449;0.321	B;B;B	0.33960	0.043;0.173;0.084	D	0.85706	0.1316	10	0.62326	D	0.03	-29.8003	19.9787	0.97318	0.0:1.0:0.0:0.0	.	644;644;634	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	V	634;644	ENSP00000313885:A634V;ENSP00000364397:A644V	ENSP00000313885:A634V	A	+	2	0	KIAA0195	71000454	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.785000	0.68998	2.733000	0.93635	0.561000	0.74099	GCC		TCGA-FB-AAPU-01A-31D-A40W-08	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	0	0	0	5	435	0	69	0	2.092269e-01	0	62	0	69	2		0	0	0	0	0	2	1	0.935599	5	429	0	68	2								-2.686105	1	1	0	0		1	1	2	3	2.677864	1	0.700000	2	0.777778	0.040000	0	0.100000	0.050000	0.051290	0.040000	0	2.000000e-02	7.000000e-02
RNF125	54941	broad.mit.edu	37	18	29622203	29622203	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr18:29622203G>C	ENST00000217740.3	+	3	872	c.380G>C	c.(379-381)gGa>gCa	p.G127A	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase			6					GATAAGTATGGACCACTACAA	0.328000																								0							SO:0001583	missense			ENST00000217740.3	0	1	hg19	CCDS11902.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686264	0.47991	.	.	ENSG00000101695	ENST00000217740	D	0.82255	-1.59	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000024	D	0.88040	0.6330	L	0.54323	1.7	0.50813	D	0.999893	D	0.76494	0.999	D	0.83275	0.996	T	0.83353	-0.0002	10	0.13853	T	0.58	0.442	16.7717	0.85539	0.0:0.0:1.0:0.0	.	127	Q96EQ8	RN125_HUMAN	A	127	ENSP00000217740:G127A	ENSP00000217740:G127A	G	+	2	0	RNF125	27876201	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.059000	0.64306	2.767000	0.95098	0.563000	0.77884	GGA		TCGA-FB-AAPU-01A-31D-A40W-08	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255354.1	0	0	0	4	88	0	40	0	0	0	1	0	40	2		0	0	0	0	0	2	1	0.881200	4	84	0	40	2								-7.348601	1	1	0	0		1	0	1	1	1.369046	1	0.700000	2	0.538462	0.080000	2.000000e-02	0.190000	0.080000	0.097865	0.080000	0	5.000000e-02	1.400000e-01
CARM1	10498	broad.mit.edu	37	19	11022882	11022882	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:11022882G>A	ENST00000327064.4	+	5	771	c.581G>A	c.(580-582)gGc>gAc	p.G194D	CARM1_ENST00000344150.4_Missense_Mutation_p.G194D	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1			13					GTTGGCTGTGGCTCTGGGATC	0.592000																								0							SO:0001583	missense			ENST00000327064.4	1	1	hg19	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987583	0.93106	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.77620	-1.11;-1.11	5.67	4.64	0.57946	.	0.058076	0.64402	N	0.000002	D	0.93354	0.7881	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95477	0.8557	10	0.87932	D	0	-4.2354	13.3148	0.60401	0.077:0.0:0.923:0.0	.	194	Q86X55	CARM1_HUMAN	D	194	ENSP00000325690:G194D;ENSP00000340934:G194D	ENSP00000325690:G194D	G	+	2	0	CARM1	10883882	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.233000	0.95337	1.403000	0.46800	0.655000	0.94253	GGC		TCGA-FB-AAPU-01A-31D-A40W-08	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	0	0	0	29	1232	0	314	1	8.384789e-01	3	139	0	314	2		0	0	0	0	0	2	1	1.000000	29	1206	0	310	2								-2.655911	1	1	0	0		1	0	0	0	1.983682	0	0.700000	2	0.697885	0.060000	3.000000e-02	0.090000	0.060000	0.067300	0.060000	0	4.000000e-02	8.000000e-02
AKAP8	10270	broad.mit.edu	37	19	15483674	15483674	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:15483674C>T	ENST00000269701.2	-	5	909	c.849G>A	c.(847-849)cgG>cgA	p.R283R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8			26					GATCCCGATCCCGCATCCGAG	0.592000													GBM(190;1671 2163 3274 27186 30476)											0							SO:0001819	synonymous_variant			ENST00000269701.2	1	1	hg19	CCDS12329.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	1	0	1	27	92	0	23	1	9.998683e-01	20	33	0	23	2		0	0	0	0	0	2	1	1.000000	26	89	0	23	2								-20.000000	1	1	0	0		1	0	0	0	1.983682	0	0.700000	2	0.697885	0.640000	4.400000e-01	0.860000	0.640000	0.654099	0.640000	0	5.400000e-01	7.600000e-01
UPK1A	11045	broad.mit.edu	37	19	36168781	36168781	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:36168781C>G	ENST00000222275.2	+	6	716	c.716C>G	c.(715-717)gCc>gGc	p.A239G	UPK1A_ENST00000379013.2_Missense_Mutation_p.P272A	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A			9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)		TTTGGGTTTGCCATCCTGATG	0.657000																								0							SO:0001583	missense			ENST00000222275.2	0	1	hg19	CCDS12470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.45|18.45	3.625613|3.625613	0.66901|0.66901	.|.	.|.	ENSG00000105668|ENSG00000105668	ENST00000222275|ENST00000379013	T|T	0.77750|0.07216	-1.12|3.21	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|.	.|.	.|.	.|.	T|T	0.09423|0.09423	0.0232|0.0232	L|L	0.48642|0.48642	1.525|1.525	0.39783|0.39783	D|D	0.97232|0.97232	P|P	0.35328|0.37330	0.495|0.59	B|B	0.39339|0.30572	0.297|0.117	T|T	0.04607|0.04607	-1.0939|-1.0939	9|9	0.06236|0.87932	T|D	0.91|0	-5.748|-5.748	15.1232|15.1232	0.72460|0.72460	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	239|272	O00322|O00322-2	UPK1A_HUMAN|.	G|A	239|272	ENSP00000222275:A239G|ENSP00000368298:P272A	ENSP00000222275:A239G|ENSP00000368298:P272A	A|P	+|+	2|1	0|0	UPK1A|UPK1A	40860621|40860621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	5.013000|5.013000	0.64023|0.64023	2.643000|2.643000	0.89663|0.89663	0.462000|0.462000	0.41574|0.41574	GCC|CCA		TCGA-FB-AAPU-01A-31D-A40W-08	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109486.3	0	0	0	5	103	0	30		0	0	0	0	30	2		0	0	0	0	0	2	1	0.932708	5	99	0	30	2								-3.272686	1	1	0	0		1	0	0	0	1.983682	0	0.700000	2	0.697885	0.140000	5.000000e-02	0.280000	0.130000	0.154139	0.140000	0	8.000000e-02	2.100000e-01
SIPA1L3	23094	broad.mit.edu	37	19	38590667	38590667	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:38590667G>T	ENST00000222345.6	+	5	2240	c.1731G>T	c.(1729-1731)ggG>ggT	p.G577G		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3			59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		ATGGGACCGGGCGGGGCCTGC	0.632000																								0							SO:0001819	synonymous_variant			ENST00000222345.6	1	1	hg19	CCDS33007.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	0	0	1	87	179	0	68	1	9.999996e-01	28	21	0	68	2		0	0	0	0	0	2	1	1.000000	88	176	0	68	2								-20.000000	1	1	0	0		1	0	0	0	1.983682	0	0.700000	2	0.697885	0.920000	7.600000e-01	1.000000	1.000000	0.920984	0.920000	1	8.400000e-01	1
ZNF600	162966	broad.mit.edu	37	19	53270312	53270312	+	Missense_Mutation	SNP	G	G	T	rs150744538		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr19:53270312G>T	ENST00000338230.3	-	3	964	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600			30					TGGCATGTAAGGGATGATACC	0.408000													Esophageal Squamous(196;1235 2112 2375 33339 34207)											0							SO:0001583	missense			ENST00000338230.3	1	1	hg19	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	16.90	3.250086	0.59212	.	.	ENSG00000189190	ENST00000338230	T	0.10860	2.83	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37019	0.0988	M	0.89715	3.055	0.09310	N	1	D	0.69078	0.997	D	0.85130	0.997	T	0.08066	-1.0740	9	0.87932	D	0	.	10.1661	0.42882	0.0:0.0:1.0:0.0	.	233	Q6ZNG1	ZN600_HUMAN	I	233	ENSP00000344791:L233I	ENSP00000344791:L233I	L	-	1	0	ZNF600	57962124	0.152000	0.22762	0.093000	0.20910	0.519000	0.34347	2.239000	0.43079	0.888000	0.36160	0.313000	0.20887	CTT		TCGA-FB-AAPU-01A-31D-A40W-08	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	1	0	0	36	525	0	208	0	4.704596e-01	1	23	0	208	2		0	0	0	0	0	2	1	1.000000	35	518	0	205	2								-2.619816	1	1	0	0		1	1	2	3	2.023319	0	0.700000	2	0.701046	0.180000	1.200000e-01	0.250000	0.180000	0.188282	0.180000	0	1.500000e-01	2.200000e-01
DCST2	127579	broad.mit.edu	37	1	154998864	154998864	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:154998864G>T	ENST00000368424.3	-	10	1583	c.1525C>A	c.(1525-1527)Cta>Ata	p.L509I	DCST2_ENST00000295536.5_Missense_Mutation_p.L509I	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2			38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		AAGAAGCATAGGCCATACATG	0.637000																								0							SO:0001583	missense			ENST00000368424.3	1	1	hg19	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477203	0.44044	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.34667	1.35;1.35	4.75	4.75	0.60458	Dendritic cell-specific transmembrane protein-like (1);	0.218950	0.30392	N	0.009722	T	0.25082	0.0609	M	0.78637	2.42	0.28184	N	0.92805	P	0.47604	0.898	B	0.42138	0.377	T	0.12993	-1.0526	10	0.36615	T	0.2	-8.1492	10.3498	0.43927	0.0:0.0:0.8042:0.1958	.	509	Q5T1A1	DCST2_HUMAN	I	509	ENSP00000357409:L509I;ENSP00000295536:L509I	ENSP00000295536:L509I	L	-	1	2	DCST2	153265488	0.483000	0.25956	0.991000	0.47740	0.961000	0.63080	0.167000	0.16602	2.466000	0.83321	0.655000	0.94253	CTA		TCGA-FB-AAPU-01A-31D-A40W-08	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	1	0	1	98	344	0	80	1	6.852107e-01	4	6	0	80	2		0	0	0	0	1	2	1	1.000000	98	342	0	80	2								-20.000000	1	1	0	0		1	2	2	4	3.240808	1	0.700000	2	0.815157	0.990000	8.500000e-01	1.000000	1.000000	0.979592	0.990000	1	9.400000e-01	1
CCDC19	0	broad.mit.edu	37	1	159850480	159850480	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:159850480C>T	ENST00000368099.4	-	8	972	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CCDC19_ENST00000426543.2_Missense_Mutation_p.R218Q|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2						26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)		TTGCTGCCTTCGTTCCATGTC	0.478000																								0							SO:0001583	missense			ENST00000368099.4	0	1	hg19	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	C	1.086	-0.665561	0.03428	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10099	2.91;2.91	4.94	-0.338	0.12651	.	0.596147	0.17329	N	0.178193	T	0.01730	0.0055	N	0.16567	0.415	0.21915	N	0.999471	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.45629	-0.9248	9	.	.	.	-0.0898	11.3354	0.49500	0.0:0.6301:0.0:0.3699	.	303;303	A8K884;Q9UL16	.;CCD19_HUMAN	Q	303;218	ENSP00000357079:R303Q;ENSP00000403044:R218Q	.	R	-	2	0	CCDC19	158117104	0.000000	0.05858	0.194000	0.23346	0.168000	0.22595	-0.761000	0.04751	-0.337000	0.08426	-1.786000	0.00637	CGA		TCGA-FB-AAPU-01A-31D-A40W-08	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1	0	0	0	5	306	0	63	0	1.367304e-02	0	9	0	63	2		0	0	0	0	0	2	1	0.934788	5	300	0	63	2								-3.091975	1	1	121412	1	27	1	2	2	4	3.264818	1	0.700000	2	0.815951	0.080000	1.000000e-02	1.000000	0.080000	0.162526	0.080000	0	4.000000e-02	1.400000e-01
ADCY10	55811	broad.mit.edu	37	1	167830232	167830232	+	Silent	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:167830232G>T	ENST00000367851.4	-	15	1870	c.1686C>A	c.(1684-1686)gcC>gcA	p.A562A	ADCY10_ENST00000367848.1_Silent_p.A470A|ADCY10_ENST00000545172.1_Silent_p.A409A	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)			63					CTAGGACATTGGCCATGAACA	0.373000																								0							SO:0001819	synonymous_variant			ENST00000367851.4	1	1	hg19	CCDS1265.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	0	0	0	9	425	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	0.993951	10	418	0	77	2								-3.044378	1	1	0	0		1	2	2	4	3.264818	1	0.700000	2	0.815951	0.100000	4.000000e-02	1.000000	0.110000	0.179126	0.100000	0	6.000000e-02	1.600000e-01
PAPPA2	60676	broad.mit.edu	37	1	176564265	176564265	+	Silent	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176564265T>C	ENST00000367662.3	+	3	2689	c.1525T>C	c.(1525-1527)Ttg>Ctg	p.L509L	PAPPA2_ENST00000367661.3_Silent_p.L509L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2			226					CAATGTGGAATTGATCTCCCA	0.537000																								0							SO:0001819	synonymous_variant			ENST00000367662.3	1	1	hg19	CCDS41438.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0	0	1	67	236	1	50		0	0	0	1	50	2		0	0	0	0	0	2	1	1.000000	67	234	1	50	19								-20.000000	1	1	0	0		1	2	2	4	3.310555	1	0.700000	2	0.819059	0.990000	8.300000e-01	1.000000	1.000000	0.978593	0.990000	1	9.400000e-01	1
PAPPA2	60676	broad.mit.edu	37	1	176659486	176659486	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:176659486G>A	ENST00000367662.3	+	5	3515	c.2351G>A	c.(2350-2352)cGg>cAg	p.R784Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R784Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2			226					GAGCTGTGCCGGGAACCAGAG	0.577000																								0							SO:0001583	missense			ENST00000367662.3	1	1	hg19	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	2.709	-0.269311	0.05716	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.29917	4.8;1.55	5.51	-1.73	0.08081	Peptidase M43, pregnancy-associated plasma-A (1);	0.652550	0.16106	N	0.229335	T	0.17704	0.0425	N	0.25647	0.755	0.30128	N	0.805098	B;B	0.24483	0.104;0.024	B;B	0.21917	0.037;0.012	T	0.34750	-0.9816	10	0.09843	T	0.71	-0.187	13.3144	0.60399	0.3731:0.0:0.6269:0.0	.	784;784	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	Q	784	ENSP00000356634:R784Q;ENSP00000356633:R784Q	ENSP00000356633:R784Q	R	+	2	0	PAPPA2	174926109	1.000000	0.71417	0.863000	0.33907	0.014000	0.08584	1.367000	0.34204	-0.594000	0.05836	-0.251000	0.11542	CGG		TCGA-FB-AAPU-01A-31D-A40W-08	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	1	0	1	252	382	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	252	373	0	83	2								-20.000000	1	1	120900	5	39	1	2	2	4	3.310555	1	0.700000	2	0.819059	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM52	339456	broad.mit.edu	37	1	1849760	1849760	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:1849760G>A	ENST00000310991.3	-	4	288	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TMEM52_ENST00000378602.3_Missense_Mutation_p.A79V	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52			3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)			GGGCTGCCGTGCTGGTGGCAG	0.637000																								0							SO:0001583	missense			ENST00000310991.3	1	1	hg19	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	10.32	1.317752	0.23994	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.38401	1.14;1.14	3.71	1.75	0.24633	.	1.039220	0.07675	N	0.936067	T	0.33294	0.0858	L	0.40543	1.245	0.09310	N	1	P;P	0.50819	0.884;0.939	B;P	0.48524	0.396;0.58	T	0.16660	-1.0395	10	0.48119	T	0.1	-8.9629	2.56	0.04770	0.1093:0.1857:0.5143:0.1906	.	94;79	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	V	79;94	ENSP00000367865:A79V;ENSP00000311122:A94V	ENSP00000311122:A94V	A	-	2	0	TMEM52	1839620	0.010000	0.17322	0.000000	0.03702	0.009000	0.06853	1.727000	0.38095	0.188000	0.20168	0.511000	0.50034	GCA		TCGA-FB-AAPU-01A-31D-A40W-08	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	0	0	0	72	54	1	35	1	9.393969e-01	6	0	1	35	2		0	0	0	0	0	2	1	1.000000	68	52	1	35	12								-20.000000	1	1	0	0		1	0	1	1	1.359352	1	0.700000	2	0.540933	0.960000	8.500000e-01	1.000000	1.000000	0.961243	0.960000	1	9.100000e-01	1
C1QB	713	broad.mit.edu	37	1	22986137	22986137	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:22986137G>A	ENST00000314933.6	+	2	319		c.e2+1		C1QB_ENST00000509305.1_Splice_Site	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain			14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGAGAGAAAGGTACCATGGGA	0.577000																								0							SO:0001630	splice_region_variant			ENST00000314933.6	0	1	hg19	CCDS228.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336484	0.60963	.	.	ENSG00000173369	ENST00000510260;ENST00000509305;ENST00000432749;ENST00000314933	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6031	0.62031	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1QB	22858724	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	6.184000	0.72008	2.350000	0.79820	0.549000	0.68633	.		TCGA-FB-AAPU-01A-31D-A40W-08	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1	21	18	0	13		0	0	0	0	13	2		0	0	0	0	0	2	1	1.000000	21	17	0	13	2								-20.000000	1	1	0	0		1	0	1	1	1.339633	1	0.700000	2	0.540933	0.890000	6.600000e-01	1.000000	1.000000	0.887354	0.890000	1	7.800000e-01	9.800000e-01
FH	2271	broad.mit.edu	37	1	241671912	241671912	+	Silent	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:241671912A>G	ENST00000366560.3	-	5	767	c.729T>C	c.(727-729)acT>acC	p.T243T		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase			26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)		CCTGCCCAAGAGTAAGTGGAA	0.398000			Mis, N, F			lieomyomatosis, renal			Hereditary Leiomyomatosis and Renal Cell Cancer				Melanoma(148;1573 2486 7381 46575)	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	fumarate hydratase		E, M	0							SO:0001819	synonymous_variant	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	ENST00000366560.3	1	1	hg19	CCDS1617.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	1	0	1	130	128	0	66	1	1	226	138	0	66	2		0	0	0	0	0	2	1	1.000000	130	128	0	66	2								-20.000000	1	1	0	0		1	1	2	3	2.592080	1	0.700000	2	0.771254	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TMEM53	79639	broad.mit.edu	37	1	45120689	45120689	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:45120689G>C	ENST00000372237.3	-	3	539	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	TMEM53_ENST00000372242.3_Missense_Mutation_p.L126V|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372235.3_Missense_Mutation_p.L96V|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53			10	Acute lymphoblastic leukemia(166;0.155)				GTCTGCAGGAGCTCCAGCACG	0.612000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000372237.3	1	1	hg19	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521758	0.64747	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.67	5.67	0.87782	.	0.129271	0.52532	D	0.000064	T	0.69305	0.3096	M	0.67953	2.075	0.58432	D	0.999997	D	0.69078	0.997	D	0.70716	0.97	T	0.65278	-0.6207	9	0.22706	T	0.39	.	10.263	0.43438	0.0751:0.1477:0.7771:0.0	.	126	Q6P2H8	TMM53_HUMAN	V	126;126;96;95	.	ENSP00000361309:L96V	L	-	1	0	TMEM53	44893276	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.322000	0.52007	2.687000	0.91594	0.563000	0.77884	CTC		TCGA-FB-AAPU-01A-31D-A40W-08	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	0	0	0	6	157	0	58	1	7.227515e-01	5	61	0	58	2		0	0	0	0	0	2	1	0.963820	6	154	0	57	2								-8.650731	1	1	0	0		1	1	2	3	2.031693	0	0.700000	2	0.702085	0.110000	4.000000e-02	0.240000	0.100000	0.130346	0.110000	0	7.000000e-02	1.700000e-01
ZZZ3	26009	broad.mit.edu	37	1	78031331	78031331	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:78031331G>C	ENST00000370801.3	-	15	3181	c.2706C>G	c.(2704-2706)aaC>aaG	p.N902K	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.N408K	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3			39					CATGTCATCTGTTTGCTGGAA	0.388000																								0							SO:0001583	missense			ENST00000370801.3	1	1	hg19	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607382	0.46527	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.15	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.50333	1.59	0.58432	D	0.999999	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.65067	-0.6258	9	0.87932	D	0	.	9.2332	0.37450	0.2136:0.0:0.7864:0.0	.	408;902;901	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	K	902;408	.	ENSP00000359834:N408K	N	-	3	2	ZZZ3	77803919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.295000	0.51794	1.500000	0.48636	-0.218000	0.12543	AAC		TCGA-FB-AAPU-01A-31D-A40W-08	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	1	0	1	62	133	0	47	1	9.999991e-01	23	27	0	47	2		0	0	0	0	0	2	1	1.000000	62	131	0	47	2								-20.000000	1	1	0	0		1	1	2	3	2.031693	0	0.700000	2	0.702085	0.910000	7.300000e-01	1.000000	1.000000	0.908258	0.910000	1	8.100000e-01	1
MCOLN2	255231	broad.mit.edu	37	1	85417986	85417986	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:85417986G>A	ENST00000370608.3	-	6	754	c.687C>T	c.(685-687)ggC>ggT	p.G229G	MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Silent_p.G201G	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2			18					GTAGGTCAATGCCTTTAAGAT	0.328000																								0							SO:0001819	synonymous_variant			ENST00000370608.3	1	1	hg19	CCDS30762.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027567.2	1	0	0	13	167	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.999548	13	164	0	44	2								-6.052750	1	1	0	0		1	1	2	3	2.031693	0	0.700000	2	0.702085	0.210000	1.100000e-01	0.360000	0.200000	0.228433	0.210000	0	1.500000e-01	2.800000e-01
ABCA4	24	broad.mit.edu	37	1	94578575	94578575	+	Silent	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr1:94578575G>C	ENST00000370225.3	-	2	200	c.114C>G	c.(112-114)gtC>gtG	p.V38V	ABCA4_ENST00000535735.1_Silent_p.V38V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4			147		all_lung(203;0.000757)|Lung NSC(277;0.00335)			ACCAGATCAAGACCAGAAATA	0.443000																								0							SO:0001819	synonymous_variant			ENST00000370225.3	1	1	hg19	CCDS747.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	1	0	1	60	288	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	60	285	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.031693	0	0.700000	2	0.702085	0.490000	3.800000e-01	0.630000	0.500000	0.505724	0.490000	0	4.300000e-01	5.600000e-01
CASS4	57091	broad.mit.edu	37	20	55033569	55033569	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:55033569C>T	ENST00000360314.3	+	7	2352	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	AL121914.1_ENST00000390795.2_RNA|CASS4_ENST00000371336.3_Silent_p.V709V|CASS4_ENST00000434344.1_Silent_p.V272V	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4			54					GCAAGCTGGTCATCATGGTGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000360314.3	1	1	hg19	CCDS33492.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	1	0	1	79	152	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	1.000000	78	150	0	44	2								-20.000000	1	1	0	0		1	0	0	0	2.006393	0	0.700000	2	0.700000	0.970000	8.000000e-01	1.000000	1.000000	0.953038	0.970000	1	8.800000e-01	1
CDH4	1002	broad.mit.edu	37	20	60511862	60511862	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60511862A>G	ENST00000360469.5	+	16	2700	c.2612A>G	c.(2611-2613)gAg>gGg	p.E871G	CDH4_ENST00000543233.1_Missense_Mutation_p.E797G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)			74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		TTCGACTACGAGGGGAGCGGC	0.627000																								0							SO:0001583	missense			ENST00000360469.5	1	1	hg19	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433272	0.83776	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.87966	-2.32;-2.32	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95944	0.8949	9	.	.	.	.	13.8037	0.63218	1.0:0.0:0.0:0.0	.	871	P55283	CADH4_HUMAN	G	871;779;797	ENSP00000353656:E871G;ENSP00000443301:E797G	.	E	+	2	0	CDH4	59945257	1.000000	0.71417	0.695000	0.30226	0.635000	0.38103	9.016000	0.93645	1.681000	0.50988	0.383000	0.25322	GAG		TCGA-FB-AAPU-01A-31D-A40W-08	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	1	0	1	25	158	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1.000000	25	156	0	38	2								-20.000000	1	1	0	0		1	0	0	0	2.006393	0	0.700000	2	0.700000	0.390000	2.600000e-01	0.540000	0.390000	0.400597	0.390000	0	3.200000e-01	4.700000e-01
LSM14B	149986	broad.mit.edu	37	20	60701454	60701454	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr20:60701454G>A	ENST00000279068.6	+	3	546	c.386G>A	c.(385-387)aGc>aAc	p.S129N	LSM14B_ENST00000370915.1_Missense_Mutation_p.S129N|LSM14B_ENST00000253001.4_Missense_Mutation_p.S129N	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)			8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		CTGGCGGCCAGCTCCCTGCTC	0.627000																								0							SO:0001583	missense			ENST00000279068.6	1	1	hg19	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724866	0.68959	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000444156;ENST00000400318;ENST00000279069;ENST00000370906;ENST00000361670	T;T;T;T	0.55588	0.88;0.87;0.9;0.51	5.42	5.42	0.78866	.	0.162938	0.64402	D	0.000002	T	0.56001	0.1956	M	0.75264	2.295	0.40246	D	0.978013	B;P;P;P;B	0.44429	0.134;0.647;0.799;0.835;0.047	B;B;B;B;B	0.41666	0.037;0.146;0.156;0.363;0.031	T	0.63056	-0.6722	10	0.49607	T	0.09	.	14.7797	0.69756	0.0:0.144:0.856:0.0	.	10;10;129;155;129	E9PG81;C9J454;Q9BX40;Q5TBQ0;Q9BX40-2	.;.;LS14B_HUMAN;.;.	N	129;129;129;10;155;129;10;10	ENSP00000279068:S129N;ENSP00000253001:S129N;ENSP00000383172:S155N;ENSP00000355209:S10N	ENSP00000253001:S129N	S	+	2	0	LSM14B	60134849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.436000	0.66538	2.529000	0.85273	0.511000	0.50034	AGC		TCGA-FB-AAPU-01A-31D-A40W-08	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	1	0	1	43	78	0	26	1	9.999999e-01	25	28	0	26	2		0	0	0	0	0	2	1	1.000000	43	75	0	26	2								-20.000000	1	1	0	0		1	0	0	0	2.006393	0	0.700000	2	0.700000	0.990000	7.700000e-01	1.000000	1.000000	0.959764	0.990000	1	8.900000e-01	1
ADAMTS1	9510	broad.mit.edu	37	21	28214913	28214913	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:28214913G>A	ENST00000284984.3	-	2	1276	c.822C>T	c.(820-822)caC>caT	p.H274H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1			42		Breast(209;0.000962)			GACCACTGCCGTGGAATTCTG	0.483000																								0							SO:0001819	synonymous_variant			ENST00000284984.3	1	1	hg19	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	G	9.460	1.092734	0.20471	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.44	-1.59	0.08453	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56481	-0.7972	4	.	.	.	.	12.2727	0.54716	0.6587:0.0:0.3413:0.0	.	.	.	.	M	56	.	.	T	-	2	0	ADAMTS1	27136784	0.097000	0.21791	0.993000	0.49108	0.987000	0.75469	-0.483000	0.06536	-0.211000	0.10124	-0.768000	0.03414	ACG		TCGA-FB-AAPU-01A-31D-A40W-08	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2	0	0	0	9	327	0	85	0	1.409441e-01	0	22	0	85	2		0	0	0	0	0	2	1	0.993546	9	317	0	85	2								-3.475365	1	1	0	0		1	1	2	3	2.013662	0	0.700000	2	0.701046	0.070000	3.000000e-02	0.150000	0.080000	0.084719	0.070000	0	5.000000e-02	1.100000e-01
TMPRSS3	64699	broad.mit.edu	37	21	43815480	43815480	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr21:43815480C>T	ENST00000291532.3	-	2	1002	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	TMPRSS3_ENST00000380399.1_Missense_Mutation_p.R100Q|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.R16Q|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.R16Q	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3			13					AAAAAGCGATCGGAATGAGAA	0.517000																								0							SO:0001583	missense			ENST00000291532.3	1	1	hg19	CCDS13686.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916630	0.73098	2.27E-4	0.0	ENSG00000160183	ENST00000291532;ENST00000433957;ENST00000398405;ENST00000380399;ENST00000398397	D;D;D;D;D	0.88354	-2.33;-2.33;-2.33;-2.37;-2.33	5.39	4.5	0.54988	.	0.132141	0.36628	N	0.002499	T	0.80276	0.4593	N	0.19112	0.55	0.28577	N	0.910325	D;P;P	0.57899	0.981;0.948;0.913	B;B;B	0.43916	0.436;0.237;0.12	T	0.74551	-0.3628	9	.	.	.	.	9.3585	0.38182	0.0:0.904:0.0:0.096	.	16;16;16	P57727-3;P57727-5;P57727	.;.;TMPS3_HUMAN	Q	16;16;16;100;16	ENSP00000291532:R16Q;ENSP00000411013:R16Q;ENSP00000381442:R16Q;ENSP00000369762:R100Q;ENSP00000381434:R16Q	.	R	-	2	0	TMPRSS3	42688549	0.993000	0.37304	0.956000	0.39512	0.959000	0.62525	1.712000	0.37940	2.691000	0.91804	0.655000	0.94253	CGA		TCGA-FB-AAPU-01A-31D-A40W-08	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1	1	0	1	47	91	0	44	1	9.999965e-01	8	35	0	44	2		0	0	0	0	0	2	1	1.000000	46	87	0	43	2								-7.570966	1	1	121412	5	41	1	1	2	3	2.013662	0	0.700000	2	0.701046	0.970000	7.500000e-01	1.000000	1.000000	0.943428	0.970000	1	8.600000e-01	1
TRMT2A	27037	broad.mit.edu	37	22	20103778	20103778	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:20103778C>T	ENST00000252136.7	-	2	770	c.382G>A	c.(382-384)Gtt>Att	p.V128I	RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.V128I|TRMT2A_ENST00000439169.2_Missense_Mutation_p.V128I|RANBP1_ENST00000430524.1_5'UTR	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)			9					CCATGCAAAACGCGCAGGGCC	0.647000																								0							SO:0001583	missense			ENST00000252136.7	0	1	hg19	CCDS13774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.960083|2.960083	0.53400|0.53400	.|.	.|.	ENSG00000099901|ENSG00000099899	ENST00000432879|ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	.|T;T;T;T;T	.|0.41758	.|3.17;3.17;3.17;3.17;0.99	5.68|5.68	4.67|4.67	0.58626|0.58626	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.189905	.|0.47093	.|D	.|0.000254	T|T	0.33962|0.33962	0.0881|0.0881	L|L	0.31065|0.31065	0.9|0.9	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.50369	.|0.934;0.003;0.0	.|B;B;B	.|0.43478	.|0.421;0.005;0.003	T|T	0.05402|0.05402	-1.0887|-1.0887	6|10	0.54805|0.27785	T|T	0.06|0.31	-28.7311|-28.7311	14.5387|14.5387	0.67979|0.67979	0.0:0.9287:0.0:0.0713|0.0:0.9287:0.0:0.0713	.|.	.|128;128;128	.|B4E213;F2Z2W7;Q8IZ69	.|.;.;TRM2A_HUMAN	M|I	24|128;128;128;128;116	.|ENSP00000252136:V128I;ENSP00000385807:V128I;ENSP00000384968:V128I;ENSP00000395738:V128I;ENSP00000393911:V116I	ENSP00000404724:T24M|ENSP00000252136:V128I	T|V	+|-	2|1	0|0	RANBP1|TRMT2A	18483778|18483778	0.851000|0.851000	0.29673|0.29673	0.928000|0.928000	0.36995|0.36995	0.657000|0.657000	0.38888|0.38888	2.040000|2.040000	0.41203|0.41203	1.422000|1.422000	0.47177|0.47177	-0.424000|-0.424000	0.05967|0.05967	ACG|GTT		TCGA-FB-AAPU-01A-31D-A40W-08	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	1	0	1	62	152	0	43	1	9.999310e-01	13	26	0	43	2		0	0	0	0	0	2	1	1.000000	62	152	0	43	2								-20.000000	1	1	121382	1	33	1	1	2	3	2.029302	0	0.700000	2	0.702085	0.830000	6.600000e-01	1.000000	0.830000	0.837693	0.830000	0	7.400000e-01	9.300000e-01
TOP3B	8940	broad.mit.edu	37	22	22316871	22316871	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:22316871C>T	ENST00000398793.2	-	13	1889	c.1455G>A	c.(1453-1455)gaG>gaA	p.E485E	TOP3B_ENST00000357179.5_Silent_p.E485E|TOP3B_ENST00000413067.2_Silent_p.E214E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta			26	Colorectal(54;0.105)				TCGTCTGCTTCTCCAGCATCT	0.662000																								0							SO:0001819	synonymous_variant			ENST00000398793.2	1	1	hg19	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946274	0.18356	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.12	4.1	0.47936	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	8.1485	0.31126	0.0:0.7409:0.0:0.2591	.	.	.	.	K	280	.	.	R	-	2	0	TOP3B	20646871	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.352000	0.52239	1.141000	0.42275	0.563000	0.77884	AGA		TCGA-FB-AAPU-01A-31D-A40W-08	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	1	0	0	14	213	0	49	1	5.946364e-01	3	28	0	49	2		0	0	0	0	0	2	1	0.999745	13	209	0	48	2								-17.527500	1	1	0	0		1	1	2	3	2.029302	0	0.700000	2	0.702085	0.180000	1.000000e-01	0.300000	0.180000	0.196061	0.180000	0	1.300000e-01	2.400000e-01
SUSD2	56241	broad.mit.edu	37	22	24579094	24579094	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:24579094C>G	ENST00000358321.3	+	2	407	c.146C>G	c.(145-147)tCt>tGt	p.S49C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2			26					CCGACGTGCTCTGGCCTTGGC	0.632000																								0							SO:0001583	missense			ENST00000358321.3	1	1	hg19	CCDS13824.1	.	.	.	.	.	.	.	.	.	.	C	7.214	0.596096	0.13875	.	.	ENSG00000099994	ENST00000358321	T	0.44482	0.92	3.76	1.58	0.23477	Somatomedin B domain (4);	1.140860	0.06462	N	0.729556	T	0.38931	0.1059	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	P	0.44732	0.459	T	0.30679	-0.9970	10	0.51188	T	0.08	-8.1814	3.3614	0.07188	0.1932:0.5932:0.0:0.2136	.	49	Q9UGT4	SUSD2_HUMAN	C	49	ENSP00000351075:S49C	ENSP00000351075:S49C	S	+	2	0	SUSD2	22909094	0.000000	0.05858	0.353000	0.25747	0.062000	0.15995	-3.602000	0.00418	0.371000	0.24564	0.449000	0.29647	TCT		TCGA-FB-AAPU-01A-31D-A40W-08	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	1	0	1	58	554	0	145	0	2.861161e-01	0	11	0	145	2		0	0	0	0	0	2	1	1.000000	58	536	0	148	2								-16.320620	1	0	0	0		1	1	2	3	2.029302	0	0.700000	2	0.702085	0.270000	2.000000e-01	0.360000	0.270000	0.283363	0.270000	0	2.300000e-01	3.100000e-01
THOC5	8563	broad.mit.edu	37	22	29915009	29915009	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:29915009T>C	ENST00000490103.1	-	15	1597	c.1475A>G	c.(1474-1476)cAg>cGg	p.Q492R	THOC5_ENST00000397873.2_Missense_Mutation_p.Q492R|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.Q492R|THOC5_ENST00000397872.1_Missense_Mutation_p.Q492R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5			21					GGATGCAAACTGTTTGTGGAG	0.507000																								0							SO:0001583	missense			ENST00000490103.1	1	1	hg19	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858213	0.91433	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.29274	-1.0017	10	0.45353	T	0.12	-17.1228	15.0502	0.71862	0.0:0.0:0.0:1.0	.	492	Q13769	THOC5_HUMAN	R	492	ENSP00000420306:Q492R;ENSP00000380970:Q492R;ENSP00000380969:Q492R;ENSP00000380971:Q492R	ENSP00000380969:Q492R	Q	-	2	0	THOC5	28245009	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.779000	0.85648	2.201000	0.70794	0.533000	0.62120	CAG		TCGA-FB-AAPU-01A-31D-A40W-08	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	1	0	1	59	583	0	147	1	8.901238e-01	5	35	0	147	2		0	0	0	0	0	2	1	1.000000	59	571	0	145	2								-20.000000	1	1	0	0		1	1	2	3	2.029302	0	0.700000	2	0.702085	0.260000	2.000000e-01	0.350000	0.260000	0.275048	0.260000	0	2.200000e-01	3.000000e-01
TMPRSS6	164656	broad.mit.edu	37	22	37466587	37466587	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:37466587C>A	ENST00000346753.3	-	15	1921	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.C593F|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.C593F	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6			40					GGCCCCCCCACAGATGTGTCG	0.662000																								0							SO:0001583	missense			ENST00000346753.3	1	1	hg19	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928706	0.92389	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.44	5.44	0.79542	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97650	1.0154	10	0.87932	D	0	.	19.2437	0.93893	0.0:1.0:0.0:0.0	.	593;602	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	F	593;602;593;593	ENSP00000371211:C593F;ENSP00000334962:C602F;ENSP00000385453:C593F;ENSP00000384964:C593F	ENSP00000334962:C602F	C	-	2	0	TMPRSS6	35796533	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.741000	0.84997	2.540000	0.85666	0.591000	0.81541	TGT		TCGA-FB-AAPU-01A-31D-A40W-08	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	1	0	0	16	352	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	0.999923	16	344	0	84	2								-16.663560	1	1	0	0		1	1	2	3	2.029302	0	0.700000	2	0.702085	0.120000	6.000000e-02	0.210000	0.120000	0.140540	0.120000	0	9.000000e-02	1.700000e-01
JOSD1	9929	broad.mit.edu	37	22	39084975	39084975	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:39084975C>A	ENST00000216039.5	-	3	1153	c.474G>T	c.(472-474)aaG>aaT	p.K158N		NM_014876.5	NP_055691.1	Q15040	JOS1_HUMAN	Josephin domain containing 1			5	Melanoma(58;0.04)				ACTCGGGCATCTTGAGTTTGG	0.547000																								0							SO:0001583	missense			ENST00000216039.5	1	1	hg19	CCDS13976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.42|15.42	2.826872|2.826872	0.50739|0.50739	.|.	.|.	ENSG00000100221|ENSG00000100221	ENST00000545590|ENST00000216039	.|T	.|0.42900	.|0.96	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.046800	.|0.85682	.|D	.|0.000000	T|T	0.33990|0.33990	0.0882|0.0882	L|L	0.38953|0.38953	1.18|1.18	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.14438	.|0.01	.|B	.|0.19666	.|0.026	T|T	0.08006|0.08006	-1.0743|-1.0743	5|10	.|0.27082	.|T	.|0.32	.|.	12.9775|12.9775	0.58546|0.58546	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.	.|158	.|Q15040	.|JOS1_HUMAN	Y|N	110|158	.|ENSP00000216039:K158N	.|ENSP00000216039:K158N	D|K	-|-	1|3	0|2	JOSD1|JOSD1	37414921|37414921	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	2.113000|2.113000	0.41902|0.41902	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAT|AAG		TCGA-FB-AAPU-01A-31D-A40W-08	JOSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321047.1	0	0	0	18	421	0	91	1	9.998689e-01	13	333	0	91	2		0	0	0	0	0	2	1	0.999980	18	413	0	90	2								-4.200902	1	1	0	0		1	1	2	3	2.029302	0	0.700000	2	0.702085	0.110000	6.000000e-02	0.190000	0.120000	0.132417	0.110000	0	9.000000e-02	1.500000e-01
L3MBTL2	83746	broad.mit.edu	37	22	41620150	41620150	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:41620150T>A	ENST00000216237.5	+	9	1227	c.1069T>A	c.(1069-1071)Tac>Aac	p.Y357N		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)			24					ACGGCTCCTCTACGAGGATGG	0.612000																								0							SO:0001583	missense			ENST00000216237.5	1	1	hg19	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.987915	0.93106	.	.	ENSG00000100395	ENST00000216237	T	0.35789	1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72947	-0.4137	10	0.87932	D	0	.	15.1768	0.72920	0.0:0.0:0.0:1.0	.	357;357	Q969R5-3;Q969R5	.;LMBL2_HUMAN	N	357	ENSP00000216237:Y357N	ENSP00000216237:Y357N	Y	+	1	0	L3MBTL2	39950096	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.305000	0.72805	2.008000	0.58898	0.533000	0.62120	TAC		TCGA-FB-AAPU-01A-31D-A40W-08	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	1	0	1	125	169	0	53	1	1	24	31	0	53	2		0	0	0	0	0	2	1	1.000000	118	166	0	52	2								-20.000000	1	1	0	0		1	0	0	0	2.007508	0	0.700000	2	0.700000	0.990000	9.900000e-01	1.000000	1.000000	0.999904	0.990000	1	9.900000e-01	1
BIK	638	broad.mit.edu	37	22	43524566	43524566	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr22:43524566G>C	ENST00000216115.2	+	4	388	c.325G>C	c.(325-327)Gac>Cac	p.D109H		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)			5		Ovarian(80;0.0694)			AAGTTTCATGGACGGTTTCAC	0.517000																								0							SO:0001583	missense			ENST00000216115.2	1	1	hg19	CCDS14044.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929535	0.34096	.	.	ENSG00000100290	ENST00000216115	T	0.25414	1.8	3.65	-1.33	0.09172	.	.	.	.	.	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	P	0.59948	0.866	T	0.16958	-1.0385	9	0.38643	T	0.18	2.1384	4.952	0.14019	0.2262:0.357:0.4168:0.0	.	109	Q13323	BIK_HUMAN	H	109	ENSP00000216115:D109H	ENSP00000216115:D109H	D	+	1	0	BIK	41854510	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.703000	0.01900	-0.087000	0.12528	0.462000	0.41574	GAC		TCGA-FB-AAPU-01A-31D-A40W-08	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	1	0	1	141	136	0	122	1	1	120	0	0	122	2		0	0	0	0	0	2	1	1.000000	141	136	0	120	2								-20.000000	1	1	0	0		1	0	1	1	1.359079	1	0.700000	2	0.540933	0.930000	8.300000e-01	1.000000	0.950000	0.934386	0.930000	1	8.800000e-01	9.800000e-01
STEAP3	55240	broad.mit.edu	37	2	120005698	120005698	+	Silent	SNP	C	C	T	rs145832236		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:120005698C>T	ENST00000354888.5	+	4	1440	c.936C>T	c.(934-936)tgC>tgT	p.C312C	STEAP3_ENST00000409811.1_Silent_p.C312C|STEAP3_ENST00000393106.2_Silent_p.C312C|STEAP3_ENST00000393107.2_Silent_p.C312C|STEAP3_ENST00000425223.2_Silent_p.C312C|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000450943.2_Silent_p.C312C|STEAP3_ENST00000393110.2_Silent_p.C322C|STEAP3_ENST00000393108.2_Silent_p.C312C	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase			17					GCTTCTTCTGCGCCGCCCTGC	0.677000																								0							SO:0001819	synonymous_variant			ENST00000354888.5	1	1	hg19	CCDS2125.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	1	0	1	70	55	0	33	1	9.999974e-01	21	1	0	33	2		0	0	0	0	0	2	1	1.000000	68	54	0	33	2								-19.992270	1	1	121074	8	38	1	0	1	1	1.343218	1	0.700000	2	0.538462	0.950000	8.300000e-01	1.000000	0.990000	0.947925	0.950000	1	8.900000e-01	9.900000e-01
RND3	390	broad.mit.edu	37	2	151326505	151326505	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:151326505A>G	ENST00000375734.2	-	5	980	c.731T>C	c.(730-732)aTg>aCg	p.M244T	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.M115T|RND3_ENST00000263895.4_Missense_Mutation_p.M244T	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3			13					AAAGATTCACATCACAGTGCA	0.423000																								0							SO:0001583	missense			ENST00000375734.2	1	1	hg19	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.498553	0.64298	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.68624	-0.34;-0.34;2.26	5.81	5.81	0.92471	.	0.033764	0.85682	D	0.000000	T	0.75517	0.3860	M	0.64404	1.975	0.80722	D	1	P;D;D	0.55800	0.597;0.973;0.973	P;P;P	0.55345	0.774;0.663;0.663	T	0.78560	-0.2157	10	0.87932	D	0	-26.2874	15.3525	0.74399	1.0:0.0:0.0:0.0	.	107;243;244	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	T	244;244;115	ENSP00000364886:M244T;ENSP00000263895:M244T;ENSP00000386576:M115T	ENSP00000263895:M244T	M	-	2	0	RND3	151034751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.335000	0.96500	2.221000	0.72209	0.528000	0.53228	ATG		TCGA-FB-AAPU-01A-31D-A40W-08	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	1	0	1	91	82	0	98	1	1	35	14	0	98	2		0	0	0	0	0	2	1	1.000000	91	82	0	97	2								-20.000000	1	1	0	0		1	0	1	1	1.350572	1	0.700000	2	0.538462	0.930000	8.100000e-01	1.000000	0.970000	0.934666	0.930000	1	8.800000e-01	9.800000e-01
PXDN	7837	broad.mit.edu	37	2	1653014	1653014	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:1653014G>A	ENST00000252804.4	-	17	2588	c.2538C>T	c.(2536-2538)caC>caT	p.H846H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)			112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)			CGTTGCTGCAGTGCTGTCCGT	0.647000																								0							SO:0001819	synonymous_variant			ENST00000252804.4	1	1	hg19	CCDS46221.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	1	0	1	34	57	0	38	0	9.638596e-01	0	12	0	38	2		0	0	0	0	0	2	1	1.000000	32	54	0	36	2								-20.000000	1	1	0	0		1	0	0	0	1.996559	0	0.700000	2	0.700000	0.990000	7.900000e-01	1.000000	1.000000	0.971952	0.990000	1	9.200000e-01	1
SGOL2	151246	broad.mit.edu	37	2	201436126	201436126	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:201436126G>A	ENST00000357799.4	+	7	1155	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)			46					GGATAATGATGACTTTCAATT	0.373000																								0							SO:0001583	missense			ENST00000357799.4	0	1	hg19	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057581	0.36277	.	.	ENSG00000163535	ENST00000357799	T	0.12984	2.63	5.45	3.63	0.41609	.	0.200831	0.35436	N	0.003203	T	0.11324	0.0276	L	0.46157	1.445	0.22457	N	0.999084	P;P;P	0.40332	0.713;0.713;0.713	B;B;B	0.36845	0.234;0.234;0.234	T	0.16247	-1.0409	10	0.25106	T	0.35	-3.3647	9.4882	0.38942	0.1632:0.0:0.8368:0.0	.	353;353;353	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	353	ENSP00000350447:D353N	ENSP00000350447:D353N	D	+	1	0	SGOL2	201144371	0.000000	0.05858	0.691000	0.30163	0.196000	0.23810	0.307000	0.19296	0.837000	0.34925	0.585000	0.79938	GAC		TCGA-FB-AAPU-01A-31D-A40W-08	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	0	0	4	127	0	56	0	1.516314e-02	1	4	0	56	2		0	0	0	0	0	2	1	0.889737	4	126	0	56	2								-6.807310	1	1	0	0		1	0	2	2	2.074045	1	0.700000	2	0.700000	0.090000	2.000000e-02	0.210000	0.090000	0.107035	0.090000	0	5.000000e-02	1.500000e-01
UGT1A10	54575	broad.mit.edu	37	2	234545236	234545236	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234545236C>T	ENST00000344644.5	+	1	137	c.68C>T	c.(67-69)gCc>gTc	p.A23V	UGT1A10_ENST00000373445.1_Missense_Mutation_p.A23V|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10			32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TGTGGCTTTGCCGAGGCAGGG	0.592000																								0							SO:0001583	missense			ENST00000344644.5	0	1	hg19	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	C	9.852	1.194005	0.22037	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59224	0.28;0.36	3.83	1.94	0.25998	.	.	.	.	.	T	0.40619	0.1124	L	0.31845	0.965	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.23852	0.02;0.049	T	0.28964	-1.0027	9	0.13470	T	0.59	.	5.5238	0.16947	0.0:0.6325:0.1827:0.1848	.	23;23	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	V	23	ENSP00000343838:A23V;ENSP00000362544:A23V	ENSP00000343838:A23V	A	+	2	0	UGT1A10	234209975	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	0.183000	0.16919	0.376000	0.24707	0.537000	0.68136	GCC		TCGA-FB-AAPU-01A-31D-A40W-08	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	0	0	0	5	394	0	117	0	4.871960e-01	0	115	0	117	2		0	0	0	0	0	2	1	0.934098	5	385	0	115	2								-2.244575	0	1	0	0		1	0	2	2	2.182243	1	0.700000	2	0.700000	0.030000	0	0.080000	0.040000	0.042347	0.030000	0	1.000000e-02	6.000000e-02
SPP2	6694	broad.mit.edu	37	2	234959698	234959698	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:234959698A>T	ENST00000168148.3	+	2	257	c.169A>T	c.(169-171)Agt>Tgt	p.S57C	SPP2_ENST00000373368.1_Missense_Mutation_p.S57C|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa			12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)			CCAGTCACTGAGTCCGTATCT	0.468000																								0							SO:0001583	missense			ENST00000168148.3	1	1	hg19	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077136	0.55753	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.51071	0.72;0.72	5.39	3.07	0.35406	.	0.136200	0.52532	D	0.000071	T	0.60392	0.2265	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.49341	-0.8950	10	0.62326	D	0.03	-31.8015	6.1693	0.20408	0.8066:0.0:0.1934:0.0	.	57	Q13103	SPP24_HUMAN	C	57	ENSP00000362466:S57C;ENSP00000168148:S57C	ENSP00000168148:S57C	S	+	1	0	SPP2	234624437	0.997000	0.39634	0.772000	0.31596	0.826000	0.46750	1.596000	0.36718	0.903000	0.36546	0.533000	0.62120	AGT		TCGA-FB-AAPU-01A-31D-A40W-08	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	1	0	1	94	130	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	93	125	0	69	2								-20.000000	1	1	0	0		1	0	2	2	2.182243	1	0.700000	2	0.700000	0.990000	9.900000e-01	1.000000	1.000000	0.999500	0.990000	1	9.900000e-01	1
ITSN2	50618	broad.mit.edu	37	2	24521586	24521586	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:24521586A>G	ENST00000355123.4	-	13	1885	c.1442T>C	c.(1441-1443)aTt>aCt	p.I481T	ITSN2_ENST00000406921.3_Missense_Mutation_p.I481T|ITSN2_ENST00000361999.3_Missense_Mutation_p.I481T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2			61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				TAACCTGACAATTTCTTCTTG	0.398000																								0							SO:0001583	missense			ENST00000355123.4	1	1	hg19	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339931	0.60963	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.79653	0.08;0.13;0.08;0.56;-1.29	5.24	5.24	0.73138	.	0.000000	0.37577	U	0.002034	D	0.86531	0.5955	L	0.52011	1.625	0.52099	D	0.999941	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	D	0.85992	0.1489	10	0.40728	T	0.16	.	15.4385	0.75165	1.0:0.0:0.0:0.0	.	481;481;481;481	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	T	481;481;481;505;481;506	ENSP00000354561:I481T;ENSP00000347244:I481T;ENSP00000370250:I481T;ENSP00000384499:I481T;ENSP00000391224:I506T	ENSP00000347244:I481T	I	-	2	0	ITSN2	24375090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.614000	0.90917	2.123000	0.65237	0.397000	0.26171	ATT		TCGA-FB-AAPU-01A-31D-A40W-08	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	0	0	1	119	263	0	112	1	9.998899e-01	17	16	0	112	2		0	0	0	0	0	2	1	1.000000	117	259	0	110	2								-20.000000	1	0	0	0		1	0	0	0	1.996559	0	0.700000	2	0.700000	0.880000	7.500000e-01	1.000000	1.000000	0.890100	0.880000	1	8.100000e-01	9.600000e-01
KCNG3	170850	broad.mit.edu	37	2	42719978	42719978	+	Splice_Site	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr2:42719978C>G	ENST00000306078.1	-	1	1259	c.664G>C	c.(664-666)Ggg>Cgg	p.G222R	KCNG3_ENST00000394973.4_Intron|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3			6					GCGTCCTACCCGGAGGGCTCC	0.711000																								0							SO:0001630	splice_region_variant			ENST00000306078.1	1	0	hg19	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656292	0.47467	.	.	ENSG00000171126	ENST00000306078	D	0.97328	-4.34	4.85	3.97	0.46021	.	0.983145	0.08331	N	0.962294	D	0.91529	0.7325	N	0.08118	0	0.80722	D	1	P	0.45768	0.866	B	0.35278	0.199	D	0.86409	0.1747	10	0.54805	T	0.06	.	13.3731	0.60723	0.0:0.9238:0.0:0.0762	.	222	Q8TAE7	KCNG3_HUMAN	R	222	ENSP00000304127:G222R	ENSP00000304127:G222R	G	-	1	0	KCNG3	42573482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.822000	0.69265	1.253000	0.44018	0.563000	0.77884	GGG		TCGA-FB-AAPU-01A-31D-A40W-08	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	1	0	1	26	50	0	14		0	0	0	0	14	2		0	0	0	0	0	2	1	1.000000	26	48	0	14	2								-6.053581	1	1	118912	1	28	1	0	0	0	1.980529	0	0.700000	2	0.697885	0.960000	6.800000e-01	1.000000	1.000000	0.926902	0.960000	1	8.100000e-01	1
CCDC58	131076	broad.mit.edu	37	3	122081856	122081856	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:122081856C>T	ENST00000291458.5	-	4	349	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	CCDC58_ENST00000497726.1_Missense_Mutation_p.E24K|CCDC58_ENST00000466854.1_5'UTR|CCDC58_ENST00000479899.1_Missense_Mutation_p.E101K	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58			2					ACATTCAGTTCTGACTGCATC	0.313000																								0							SO:0001583	missense			ENST00000291458.5	1	1	hg19	CCDS33838.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821041|4.821041	0.90873|0.90873	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000291458;ENST00000497726;ENST00000479899|ENST00000479414	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83008|0.83008	0.5161|0.5161	M|M	0.89287|0.89287	3.02|3.02	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.85748|0.85748	0.1341|0.1341	9|5	0.87932|.	D|.	0|.	.|.	15.8232|15.8232	0.78676|0.78676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	115|.	Q4VC31|.	CCD58_HUMAN|.	K|K	115;24;101|111	.|.	ENSP00000291458:E115K|.	E|R	-|-	1|2	0|0	CCDC58|CCDC58	123564546|123564546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.444000|6.444000	0.73452|0.73452	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GAA|AGA		TCGA-FB-AAPU-01A-31D-A40W-08	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355754.1	1	0	1	59	129	0	72	1	1	58	74	0	72	2		0	0	0	0	0	2	1	1.000000	58	128	0	72	2								-20.000000	1	1	0	0		1	0	0	0	1.997626	0	0.700000	2	0.700000	0.890000	7.100000e-01	1.000000	1.000000	0.892324	0.890000	1	7.900000e-01	9.900000e-01
MYLK	4638	broad.mit.edu	37	3	123418920	123418920	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:123418920G>A	ENST00000475616.1	-	15	3394	c.3395C>T	c.(3394-3396)aCg>aTg	p.T1132M	MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Missense_Mutation_p.T1132M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1132M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1063M|MYLK_ENST00000360304.3_Missense_Mutation_p.T1132M			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			TCCGTTCAGCGTCCAGATGAT	0.567000																								0							SO:0001583	missense			ENST00000475616.1	1	1	hg19	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664962	0.29604	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.76	3.98	0.46160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32526	0.0832	L	0.29908	0.895	0.32639	N	0.521	B;B;B;B;B;B	0.33512	0.237;0.157;0.379;0.362;0.415;0.279	B;B;B;B;B;B	0.34138	0.11;0.062;0.105;0.11;0.139;0.176	T	0.38308	-0.9667	9	0.33141	T	0.24	.	12.9494	0.58391	0.1201:0.0:0.8799:0.0	.	1132;210;1063;1132;1063;1132	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	M	1132;1132;1132;1063;1132	ENSP00000354004:T1132M;ENSP00000353452:T1132M;ENSP00000352088:T1132M;ENSP00000320622:T1063M;ENSP00000418335:T1132M	ENSP00000320622:T1063M	T	-	2	0	MYLK	124901610	1.000000	0.71417	0.648000	0.29521	0.936000	0.57629	3.938000	0.56583	0.800000	0.34041	0.555000	0.69702	ACG		TCGA-FB-AAPU-01A-31D-A40W-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	1	148	295	0	127	0	9.926479e-01	0	18	0	127	2		0	0	0	0	0	2	1	1.000000	147	290	0	124	2								-20.000000	1	1	121412	8	39	1	0	0	0	1.997626	0	0.700000	2	0.700000	0.940000	8.200000e-01	1.000000	1.000000	0.946234	0.940000	1	8.800000e-01	1
XRN1	54464	broad.mit.edu	37	3	142094760	142094760	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:142094760A>C	ENST00000264951.4	-	25	2975	c.2858T>G	c.(2857-2859)gTg>gGg	p.V953G	XRN1_ENST00000392981.2_Missense_Mutation_p.V953G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1			61					ATTTAAACCCACATTTGCTTT	0.403000																								0							SO:0001583	missense			ENST00000264951.4	1	1	hg19	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.344152	0.82022	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.37752	1.18;1.18	5.78	5.78	0.91487	.	0.062617	0.64402	D	0.000006	T	0.58104	0.2099	M	0.70275	2.135	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.62649	0.905;0.806	T	0.62315	-0.6880	10	0.87932	D	0	-11.1021	16.0952	0.81114	1.0:0.0:0.0:0.0	.	953;953	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	G	953	ENSP00000264951:V953G;ENSP00000376707:V953G	ENSP00000264951:V953G	V	-	2	0	XRN1	143577450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.268000	0.95675	2.209000	0.71365	0.477000	0.44152	GTG		TCGA-FB-AAPU-01A-31D-A40W-08	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	1	0	1	63	163	0	96	1	9.101886e-01	6	7	0	96	2		0	0	0	0	0	2	1	1.000000	61	162	0	96	2								-20.000000	1	1	0	0		1	0	0	0	1.997626	0	0.700000	2	0.700000	0.790000	6.300000e-01	0.960000	0.800000	0.800110	0.790000	0	7.100000e-01	8.800000e-01
CCNL1	57018	broad.mit.edu	37	3	156866115	156866115	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:156866115C>T	ENST00000295926.3	-	11	1614	c.1496G>A	c.(1495-1497)cGt>cAt	p.R499H	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1			18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		AGATCGTTCACGCCTGTCCCT	0.512000																								0							SO:0001583	missense			ENST00000295926.3	1	1	hg19	CCDS3178.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.15	2.746831	0.49257	0.0	1.16E-4	ENSG00000163660	ENST00000295926	T	0.22945	1.93	5.2	4.32	0.51571	.	0.110120	0.53938	D	0.000041	T	0.24967	0.0606	L	0.54323	1.7	0.80722	D	1	P	0.42584	0.784	B	0.38616	0.277	T	0.03025	-1.1081	10	0.27785	T	0.31	-1.4904	13.7858	0.63108	0.0:0.9257:0.0:0.0743	.	499	Q9UK58	CCNL1_HUMAN	H	499	ENSP00000295926:R499H	ENSP00000295926:R499H	R	-	2	0	CCNL1	158348809	0.999000	0.42202	0.844000	0.33320	0.808000	0.45660	4.102000	0.57776	1.314000	0.45095	0.557000	0.71058	CGT		TCGA-FB-AAPU-01A-31D-A40W-08	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	1	0	1	120	267	0	134	1	1	149	157	0	134	2		0	0	0	0	0	2	1	1.000000	120	260	0	133	2								-20.000000	1	1	121412	2	40	1	0	0	0	1.997626	0	0.700000	2	0.700000	0.880000	7.500000e-01	1.000000	0.880000	0.886264	0.880000	1	8.100000e-01	9.500000e-01
CYP8B1	1582	broad.mit.edu	37	3	42917299	42917299	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr3:42917299A>C	ENST00000316161.4	-	1	334	c.10T>G	c.(10-12)Tgg>Ggg	p.W4G	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.W4G|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1			23					ACTGGACCCCAGAGAACCATG	0.592000																								0							SO:0001583	missense			ENST00000316161.4	1	1	hg19	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634875	0.47049	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.74947	-0.73;-0.89	4.89	4.89	0.63831	.	0.287902	0.27513	N	0.019032	T	0.71281	0.3321	N	0.08118	0	0.32807	D	0.500855	D;D	0.76494	0.999;0.988	D;P	0.63488	0.915;0.779	T	0.80111	-0.1519	10	0.87932	D	0	-13.3635	13.6159	0.62108	1.0:0.0:0.0:0.0	.	4;4	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	G	4	ENSP00000404499:W4G;ENSP00000318867:W4G	ENSP00000318867:W4G	W	-	1	0	CYP8B1	42892303	1.000000	0.71417	0.997000	0.53966	0.298000	0.27526	5.950000	0.70265	2.064000	0.61679	0.459000	0.35465	TGG		TCGA-FB-AAPU-01A-31D-A40W-08	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	1	0	0	58	82	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	1.000000	56	82	0	37	2								-20.000000	1	1	0	0		1	0	2	2	1.795195	1	0.700000	2	0.700000	0.990000	9.500000e-01	1.000000	1.000000	0.997571	0.990000	1	9.900000e-01	1
PLK4	10733	broad.mit.edu	37	4	128816239	128816239	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:128816239G>C	ENST00000270861.5	+	14	2968	c.2694G>C	c.(2692-2694)tgG>tgC	p.W898C	PLK4_ENST00000513090.1_Missense_Mutation_p.W866C|PLK4_ENST00000507249.1_Missense_Mutation_p.W837C|PLK4_ENST00000514379.1_Missense_Mutation_p.W857C|PLK4_ENST00000515069.1_Missense_Mutation_p.W820C	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4			31					ATGTTGGTTGGGCTACACAGG	0.323000													Colon(135;508 1718 19061 31832 42879)											0							SO:0001583	missense			ENST00000270861.5	1	1	hg19	CCDS3735.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548975	0.45383	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	5.25	4.37	0.52481	POLO box duplicated domain (2);	0.056561	0.85682	D	0.000000	T	0.12475	0.0303	L	0.35723	1.085	0.80722	D	1	B;B	0.33494	0.01;0.414	B;B	0.38378	0.034;0.272	T	0.06232	-1.0838	10	0.52906	T	0.07	-1.8738	15.0412	0.71793	0.0:0.0:0.8575:0.1425	.	866;898	O00444-2;O00444	.;PLK4_HUMAN	C	898;820;866;837;857;144	ENSP00000270861:W898C;ENSP00000421774:W820C;ENSP00000427554:W866C;ENSP00000423412:W837C;ENSP00000423582:W857C;ENSP00000427568:W144C	ENSP00000270861:W898C	W	+	3	0	PLK4	129035689	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.950000	0.70265	2.730000	0.93505	0.479000	0.44913	TGG		TCGA-FB-AAPU-01A-31D-A40W-08	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3	1	0	1	77	183	0	80	1	9.925636e-01	8	13	0	80	2		0	0	0	0	0	2	1	1.000000	77	181	0	80	2								-6.870145	1	1	0	0		1	1	2	3	2.072253	0	0.700000	2	0.705160	0.860000	7.000000e-01	1.000000	1.000000	0.867412	0.860000	1	7.700000e-01	9.600000e-01
LIMCH1	22998	broad.mit.edu	37	4	41605916	41605916	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:41605916G>A	ENST00000313860.7	+	5	423	c.369G>A	c.(367-369)ctG>ctA	p.L123L	LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000508501.1_Silent_p.L123L|LIMCH1_ENST00000512820.1_Silent_p.L123L|LIMCH1_ENST00000512632.1_Silent_p.L123L|LIMCH1_ENST00000512946.1_Silent_p.L123L|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000511496.1_Intron	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1			41					GTAGGAAGCTGAAAAATGTAA	0.338000																								0							SO:0001819	synonymous_variant			ENST00000313860.7	1	1	hg19	CCDS33977.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	1	0	0	58	115	0	49	1	8.019111e-01	2	6	0	49	2		0	0	0	0	0	2	1	1.000000	57	115	0	48	2								-20.000000	1	1	0	0		1	1	2	3	2.072253	0	0.700000	2	0.705160	0.970000	7.700000e-01	1.000000	1.000000	0.948441	0.970000	1	8.700000e-01	1
FIP1L1	81608	broad.mit.edu	37	4	54248462	54248462	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:54248462G>C	ENST00000337488.6	+	4	382	c.188G>C	c.(187-189)gGa>gCa	p.G63A	FIP1L1_ENST00000507166.1_Missense_Mutation_p.G63A|FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.G48A|FIP1L1_ENST00000306932.6_Missense_Mutation_p.G48A|FIP1L1_ENST00000358575.5_Missense_Mutation_p.G48A	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1			6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		CCTCCATCTGGAATTGAAGAT	0.333000			T	PDGFRA	idiopathic hypereosinophilic syndrome										Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0							SO:0001583	missense			ENST00000337488.6	1	1	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844491	0.71488	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.76578	-1.03	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	D	0.82430	0.5035	L	0.36672	1.1	0.54753	D	0.999984	P;D;B;D	0.76494	0.955;0.999;0.217;0.958	P;D;B;P	0.80764	0.756;0.994;0.189;0.671	T	0.78175	-0.2306	10	0.20519	T	0.43	-21.7326	17.912	0.88937	0.0:0.0:1.0:0.0	.	48;48;63;48	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	A	63;48;48;48;63	ENSP00000423325:G63A	ENSP00000302993:G48A	G	+	2	0	FIP1L1	53943219	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.540000	0.45727	2.556000	0.86216	0.655000	0.94253	GGA		TCGA-FB-AAPU-01A-31D-A40W-08	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	1	0	1	55	82	0	59	1	1	52	43	0	59	2		0	0	0	0	0	2	1	1.000000	54	81	0	59	2								-20.000000	1	1	0	0		1	1	2	3	2.072253	0	0.700000	2	0.705160	0.990000	9.300000e-01	1.000000	1.000000	0.995992	0.990000	1	9.900000e-01	1
ADAMTS3	9508	broad.mit.edu	37	4	73205337	73205337	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73205337C>G	ENST00000286657.4	-	5	771	c.735G>C	c.(733-735)atG>atC	p.M245I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		TGCGGCGTCTCATTGTTTCAT	0.488000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001583	missense			ENST00000286657.4	1	1	hg19	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179799	0.06380	.	.	ENSG00000156140	ENST00000286657	T	0.60171	0.21	5.31	1.65	0.23941	.	1.075530	0.07192	N	0.855931	T	0.39572	0.1083	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26087	-1.0113	10	0.39692	T	0.17	.	2.8231	0.05477	0.2577:0.4819:0.1247:0.1357	.	245	O15072	ATS3_HUMAN	I	245	ENSP00000286657:M245I	ENSP00000286657:M245I	M	-	3	0	ADAMTS3	73424201	0.001000	0.12720	0.019000	0.16419	0.005000	0.04900	-0.034000	0.12225	0.093000	0.17368	-0.300000	0.09419	ATG		TCGA-FB-AAPU-01A-31D-A40W-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	0	0	0	25	694	1	211		0	0	0	1	211	2		0	0	0	0	0	2	1	0.982958	25	687	1	209	13								-2.942243	1	1	0	0		1	1	2	3	2.072253	0	0.700000	2	0.705160	0.090000	6.000000e-02	1.000000	0.100000	0.138766	0.090000	0	7.000000e-02	1.300000e-01
ADAMTS3	9508	broad.mit.edu	37	4	73414444	73414444	+	Silent	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr4:73414444C>G	ENST00000286657.4	-	3	291	c.255G>C	c.(253-255)acG>acC	p.T85T	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3			76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		TTCCAAATGCCGTGATGTTAA	0.493000													NSCLC(168;1941 2048 2918 13048 43078)											0							SO:0001819	synonymous_variant			ENST00000286657.4	1	1	hg19	CCDS3553.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2	1	0	1	69	151	0	63		0	0	0	0	63	2		0	0	0	0	0	2	1	1.000000	69	150	0	60	2								-7.474031	1	1	0	0		1	1	2	3	2.072253	0	0.700000	2	0.705160	0.910000	7.300000e-01	1.000000	1.000000	0.909649	0.910000	1	8.200000e-01	1
TSSK1B	83942	broad.mit.edu	37	5	112769663	112769663	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:112769663G>A	ENST00000390666.3	-	1	1065	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B			13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)			TCAGTTCCCCGGGAACTCTCC	0.637000																								0							SO:0001583	missense			ENST00000390666.3	1	1	hg19	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263874	0.23136	2.3E-4	0.0	ENSG00000212122	ENST00000390666	T	0.69806	-0.43	1.24	1.24	0.21308	Protein kinase-like domain (1);	0.657886	0.11189	U	0.590072	T	0.43211	0.1237	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	B	0.43445	0.42	T	0.26883	-1.0090	10	0.41790	T	0.15	.	5.7504	0.18144	0.0:0.0:1.0:0.0	.	292	Q9BXA7	TSSK1_HUMAN	W	292	ENSP00000375081:R292W	ENSP00000375081:R292W	R	-	1	2	TSSK1B	112797562	0.980000	0.34600	0.001000	0.08648	0.004000	0.04260	4.334000	0.59291	0.653000	0.30826	0.462000	0.41574	CGG		TCGA-FB-AAPU-01A-31D-A40W-08	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2	1	0	1	47	81	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	46	79	0	39	2								-8.080114	1	1	121314	2	34	1	1	2	3	2.010798	0	0.700000	2	0.723247	0.990000	8.900000e-01	1.000000	1.000000	0.992649	0.990000	1	9.900000e-01	1
ZNF608	57507	broad.mit.edu	37	5	123984759	123984759	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:123984759A>T	ENST00000306315.5	-	4	1753	c.1318T>A	c.(1318-1320)Tct>Act	p.S440T	ZNF608_ENST00000504926.1_Missense_Mutation_p.S13T	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608			46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)		GCAGCAGCAGACCTCGCTCTC	0.597000																								0							SO:0001583	missense			ENST00000306315.5	0	1	hg19	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027154	0.35797	.	.	ENSG00000168916	ENST00000504926;ENST00000306315;ENST00000509799;ENST00000513986	T;T	0.45276	0.93;0.9	5.26	5.26	0.73747	.	0.178789	0.50627	D	0.000117	T	0.22166	0.0534	N	0.14661	0.345	0.30518	N	0.768777	B	0.02656	0.0	B	0.06405	0.002	T	0.18304	-1.0341	10	0.08837	T	0.75	-13.6396	9.307	0.37881	0.7225:0.0:0.0:0.2775	.	440	Q9ULD9	ZN608_HUMAN	T	13;440;440;440	ENSP00000427657:S13T;ENSP00000307746:S440T	ENSP00000307746:S440T	S	-	1	0	ZNF608	124012658	0.999000	0.42202	0.853000	0.33588	0.600000	0.36913	1.070000	0.30653	1.989000	0.58080	0.445000	0.29226	TCT		TCGA-FB-AAPU-01A-31D-A40W-08	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	1	0	0	11	302	0	61	1	1.251874e-01	2	14	0	61	2		0	0	0	0	0	2	1	0.998322	11	299	0	60	2								-12.025330	1	1	0	0		1	0	0	0	1.992331	0	0.700000	2	0.700000	0.100000	4.000000e-02	0.170000	0.100000	0.108677	0.100000	0	7.000000e-02	1.400000e-01
PCDHB15	56121	broad.mit.edu	37	5	140626038	140626038	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140626038T>A	ENST00000231173.3	+	1	892	c.892T>A	c.(892-894)Tca>Aca	p.S298T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15			61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		AAGCAGCCTTTCAGGAGAAAT	0.403000																								0							SO:0001583	missense			ENST00000231173.3	0	1	hg19	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.283625	0.00251	.	.	ENSG00000113248	ENST00000231173	T	0.44482	0.92	5.07	2.17	0.27698	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13927	0.0337	N	0.02357	-0.585	0.09310	N	1	B	0.12630	0.006	B	0.21546	0.035	T	0.36187	-0.9758	9	0.02654	T	1	.	4.5546	0.12130	0.4747:0.0948:0.0:0.4306	.	298	Q9Y5E8	PCDBF_HUMAN	T	298	ENSP00000231173:S298T	ENSP00000231173:S298T	S	+	1	0	PCDHB15	140606222	0.004000	0.15560	0.091000	0.20842	0.376000	0.30014	1.902000	0.39848	0.853000	0.35312	-0.669000	0.03829	TCA		TCGA-FB-AAPU-01A-31D-A40W-08	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	0	0	0	10	429	0	98	0	2.126693e-02	0	9	0	98	2		0	0	0	0	0	2	1	0.996845	10	426	0	98	2								-9.530774	1	1	0	0		1	1	2	3	2.593277	1	0.700000	2	0.768786	0.080000	3.000000e-02	1.000000	0.090000	0.200189	0.080000	0	5.000000e-02	1.500000e-01
PCDHGA10	56106	broad.mit.edu	37	5	140793564	140793564	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:140793564C>T	ENST00000398610.2	+	1	822	c.822C>T	c.(820-822)gaC>gaT	p.D274D	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|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)		CCGACAGGGACGAAGGTGCCA	0.458000																								0							SO:0001819	synonymous_variant			ENST00000398610.2	0	1	hg19	CCDS47292.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	1	0	0	8	111	0	20	0	0	0	1	0	20	2		0	0	0	0	0	2	1	0.989825	8	110	0	20	2								-12.657840	1	1	0	0		1	1	2	3	2.593277	1	0.700000	2	0.768786	0.270000	1.200000e-01	1.000000	0.260000	0.361153	0.270000	0	1.800000e-01	4.400000e-01
JAKMIP2	9832	broad.mit.edu	37	5	147040819	147040819	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:147040819G>C	ENST00000265272.5	-	3	786	c.319C>G	c.(319-321)Cgt>Ggt	p.R107G	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R107G|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R65G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2			64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCTCCATCACGTACCTTCACC	0.557000																								0							SO:0001583	missense			ENST00000265272.5	1	1	hg19	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126056	0.20959	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.35421	1.31;1.31;1.31	4.67	3.71	0.42584	.	0.059973	0.64402	D	0.000003	T	0.24160	0.0585	N	0.24115	0.695	0.38983	D	0.95898	B;B;B;B	0.32396	0.15;0.369;0.369;0.239	B;B;B;B	0.29176	0.045;0.099;0.099;0.099	T	0.23013	-1.0200	10	0.66056	D	0.02	.	12.4034	0.55426	0.0:0.0:0.6863:0.3137	.	65;107;107;107	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	G	107;107;65;107	ENSP00000421398:R107G;ENSP00000265272:R107G;ENSP00000328989:R65G	ENSP00000265272:R107G	R	-	1	0	JAKMIP2	147021012	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.826000	0.62715	2.529000	0.85273	0.563000	0.77884	CGT		TCGA-FB-AAPU-01A-31D-A40W-08	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	1	0	1	439	435	0	198		0	0	0	0	198	2		0	0	0	0	0	2	1	1.000000	438	429	0	197	2								-20.000000	1	1	0	0		1	1	2	3	2.593277	1	0.700000	2	0.768786	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRB2	154	broad.mit.edu	37	5	148206693	148206693	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:148206693C>G	ENST00000305988.4	+	1	538	c.299C>G	c.(298-300)aCt>aGt	p.T100S		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface			14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	AAAATGTGGACTTTTGGCAAC	0.527000																								0							SO:0001583	missense			ENST00000305988.4	0	1	hg19	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	C	0.963	-0.702511	0.03255	.	.	ENSG00000169252	ENST00000305988	T	0.19105	2.17	5.4	0.158	0.14942	GPCR, rhodopsin-like superfamily (1);	0.415884	0.28459	N	0.015270	T	0.06508	0.0167	N	0.04245	-0.25	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.09590	T	0.72	.	4.9026	0.13782	0.5116:0.2522:0.1675:0.0686	.	100	P07550	ADRB2_HUMAN	S	100	ENSP00000305372:T100S	ENSP00000305372:T100S	T	+	2	0	ADRB2	148186886	0.024000	0.19004	0.917000	0.36280	0.995000	0.86356	0.638000	0.24674	-0.152000	0.11156	0.655000	0.94253	ACT		TCGA-FB-AAPU-01A-31D-A40W-08	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	0	0	0	9	234	0	50	0	0	0	1	0	50	2		0	0	0	0	0	2	1	0.994030	9	230	0	50	2								-10.688220	1	1	0	0		1	1	2	3	2.593277	1	0.700000	2	0.768786	0.140000	6.000000e-02	1.000000	0.140000	0.251945	0.140000	0	1.000000e-01	2.400000e-01
PLK2	10769	broad.mit.edu	37	5	57750426	57750426	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:57750426A>C	ENST00000274289.3	-	14	2342	c.2042T>G	c.(2041-2043)tTa>tGa	p.L681*	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2			26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)			ACATCTTTGTAAGAGCATGTT	0.408000																								0							SO:0001587	stop_gained			ENST00000274289.3	0	1	hg19	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	A	40	8.531226	0.98852	.	.	ENSG00000145632	ENST00000274289	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-9.6175	16.3662	0.83325	1.0:0.0:0.0:0.0	.	.	.	.	X	681	.	ENSP00000274289:L681X	L	-	2	0	PLK2	57786183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.962000	0.76048	2.274000	0.75844	0.533000	0.62120	TTA		TCGA-FB-AAPU-01A-31D-A40W-08	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	0	0	0	9	259	0	82	1	9.369305e-01	7	134	0	82	2		0	0	0	0	0	2	1	0.994040	9	255	0	80	2								-3.855942	1	1	0	0		1	1	2	3	2.047411	0	0.700000	2	0.704142	0.100000	4.000000e-02	1.000000	0.100000	0.132833	0.100000	0	6.000000e-02	1.500000e-01
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	p.R365H(1)		13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)			CGAAGTGTCCGCACTGTAAAG	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000296677.4	0	1	hg19	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		TCGA-FB-AAPU-01A-31D-A40W-08	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2	0	0	0	7	544	0	229	0	9.071567e-01	0	330	0	229	2		0	0	0	0	0	2	1	0.980211	7	540	0	228	2								-1.762392	0	1	121412	2	38	1	0	1	1	1.320364	1	0.700000	2	0.538462	0.020000	0	0.050000	0.020000	0.026853	0.020000	0	1.000000e-02	4.000000e-02
HACE1	57531	broad.mit.edu	37	6	105198307	105198307	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:105198307C>G	ENST00000262903.4	-	20	2528	c.2252G>C	c.(2251-2253)aGa>aCa	p.R751T	HACE1_ENST00000369125.2_Missense_Mutation_p.R536T|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1			44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)			CTGAATGGCTCTTGTCATTCG	0.368000																								0							SO:0001583	missense			ENST00000262903.4	1	1	hg19	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872626	0.72180	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.56776	0.44;0.44	5.0	5.0	0.66597	HECT (4);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.25286	0.73	0.34010	D	0.651392	B;P;D;D	0.59357	0.347;0.901;0.985;0.981	B;P;D;D	0.69824	0.387;0.453;0.966;0.943	T	0.36456	-0.9747	10	0.17369	T	0.5	.	18.6385	0.91386	0.0:1.0:0.0:0.0	.	536;240;751;404	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	T	751;536	ENSP00000262903:R751T;ENSP00000358121:R536T	ENSP00000262903:R751T	R	-	2	0	HACE1	105305000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.473000	0.83533	0.563000	0.77884	AGA		TCGA-FB-AAPU-01A-31D-A40W-08	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	1	0	0	12	159	0	54	0	9.527409e-02	1	6	0	54	2		0	0	0	0	0	2	1	0.999196	12	158	0	54	2								-3.319756	1	1	0	0		1	0	2	2	1.969417	1	0.700000	2	0.700000	0.200000	1.100000e-01	0.350000	0.200000	0.221846	0.200000	0	1.500000e-01	2.700000e-01
THBS2	7058	broad.mit.edu	37	6	169639743	169639743	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:169639743G>A	ENST00000366787.3	-	8	1329	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2			111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)			ATGGACTGGCGCAGGTTGCAG	0.512000													Esophageal Squamous(91;219 1934 18562 44706)											0							SO:0001819	synonymous_variant			ENST00000366787.3	0	1	hg19	CCDS34574.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	0	0	0	5	54	0	12	0	9.764975e-01	0	81	0	12	2		0	0	0	0	0	2	1	0.937599	5	53	0	12	2								-5.260740	1	1	121146	1	30	1	1	2	3	2.051905	0	0.700000	2	0.704142	0.260000	1.000000e-01	1.000000	0.240000	0.303608	0.260000	0	1.700000e-01	4.000000e-01
RBM24	221662	broad.mit.edu	37	6	17292038	17292038	+	Silent	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:17292038C>G	ENST00000379052.5	+	4	635	c.399C>G	c.(397-399)gtC>gtG	p.V133V	RBM24_ENST00000318204.5_Silent_p.V88V|RBM24_ENST00000425446.2_Silent_p.V75V|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24			13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)		CGGGAGTGGTCATTCCACACG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000379052.5	0	1	hg19	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329137	0.24167	.	.	ENSG00000112183	ENST00000503965	.	.	.	5.71	1.34	0.21922	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3684	3.4813	0.07603	0.3218:0.4196:0.1748:0.0839	.	.	.	.	X	98	.	.	S	+	2	0	RBM24	17400017	0.303000	0.24463	0.997000	0.53966	0.998000	0.95712	-0.217000	0.09253	0.020000	0.15106	0.591000	0.81541	TCA		TCGA-FB-AAPU-01A-31D-A40W-08	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	0	0	0	11	522	0	123	0	5.419828e-04	0	2	0	123	2		0	0	0	0	0	2	1	0.998291	11	519	0	120	2								-2.801395	1	1	0	0		1	0	0	0	1.955452	0	0.700000	2	0.695740	0.050000	2.000000e-02	0.100000	0.060000	0.063108	0.050000	0	3.000000e-02	8.000000e-02
DAAM2	23500	broad.mit.edu	37	6	39866704	39866704	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:39866704G>A	ENST00000398904.2	+	22	2852	c.2670G>A	c.(2668-2670)gcG>gcA	p.A890A	RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Silent_p.A890A|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Silent_p.A890A			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2			49	Ovarian(28;0.0355)|Colorectal(47;0.196)				GCCTGAGAGCGGTGGAGGTGG	0.577000																								0							SO:0001819	synonymous_variant			ENST00000398904.2	1	1	hg19	CCDS56426.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1	1	0	1	11	41	0	12	0	3.106473e-01	0	5	0	12	2		0	0	0	0	0	2	1	0.998675	11	39	0	12	2								-10.489340	1	1	121040	5	39	1	0	0	0	1.969283	0	0.700000	2	0.695740	0.600000	3.300000e-01	0.930000	0.590000	0.619950	0.600000	0	4.500000e-01	7.700000e-01
KLHL32	114792	broad.mit.edu	37	6	97423967	97423967	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr6:97423967A>G	ENST00000369261.4	+	3	481	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Missense_Mutation_p.I40V|KLHL32_ENST00000536676.1_Missense_Mutation_p.I40V	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32			38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)			GAGTGATGGCATCCTCTGCGA	0.507000																								0							SO:0001583	missense			ENST00000369261.4	0	1	hg19	CCDS5038.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.865093	0.32977	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200;ENST00000369254	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.14	3.98	0.46160	BTB/POZ (1);BTB/POZ fold (2);	0.319047	0.33834	N	0.004507	T	0.35158	0.0922	N	0.25201	0.72	0.80722	D	1	B;B;B;B	0.15719	0.0;0.0;0.014;0.008	B;B;B;B	0.19666	0.0;0.0;0.015;0.026	T	0.26744	-1.0094	10	0.30854	T	0.27	.	11.1181	0.48273	0.917:0.0:0.083:0.0	.	40;40;40;40	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	V	40	ENSP00000358265:I40V;ENSP00000440382:I40V;ENSP00000441527:I40V;ENSP00000358258:I40V	ENSP00000358258:I40V	I	+	1	0	KLHL32	97530688	0.997000	0.39634	1.000000	0.80357	0.961000	0.63080	2.905000	0.48727	2.159000	0.67721	0.482000	0.46254	ATC		TCGA-FB-AAPU-01A-31D-A40W-08	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041570.1	0	0	0	4	118	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.887695	4	116	0	61	2								-7.262399	1	1	0	0		1	0	1	1	1.315272	1	0.700000	2	0.540933	0.060000	1.000000e-02	0.140000	0.060000	0.074769	0.060000	0	3.000000e-02	1.100000e-01
GIMAP1	170575	broad.mit.edu	37	7	150417597	150417597	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150417597A>C	ENST00000307194.5	+	3	645	c.505A>C	c.(505-507)Aca>Cca	p.T169P		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1			28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)		CGTGAGCAACACAGAGAACCG	0.647000																								0							SO:0001583	missense			ENST00000307194.5	1	1	hg19	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407461	0.25378	.	.	ENSG00000213203	ENST00000307194	T	0.60672	0.17	4.81	1.04	0.20106	AIG1 (1);	0.325956	0.28431	U	0.015380	T	0.63307	0.2500	M	0.64170	1.965	0.09310	N	1	P	0.47910	0.902	P	0.61397	0.888	T	0.53493	-0.8431	10	0.56958	D	0.05	.	3.4499	0.07494	0.5502:0.0:0.0968:0.353	.	169	Q8WWP7	GIMA1_HUMAN	P	169	ENSP00000302833:T169P	ENSP00000302833:T169P	T	+	1	0	GIMAP1	150048530	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.636000	0.24644	0.033000	0.15463	-0.309000	0.09137	ACA		TCGA-FB-AAPU-01A-31D-A40W-08	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	1	0	1	87	331	0	60	0	1.962864e-01	0	4	0	60	2		0	0	0	0	0	2	1	1.000000	85	325	0	60	2								-20.000000	1	1	0	0		1	1	2	3	2.507732	1	0.700000	2	0.760383	0.760000	6.100000e-01	1.000000	0.740000	0.797536	0.760000	0	6.800000e-01	1
NOS3	4846	broad.mit.edu	37	7	150699033	150699033	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:150699033C>T	ENST00000484524.1	+	12	1627	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	NOS3_ENST00000297494.3_Missense_Mutation_p.R543W|NOS3_ENST00000467517.1_Missense_Mutation_p.R543W|NOS3_ENST00000461406.1_Missense_Mutation_p.R337W	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)			50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		GAGACTCTTCCGGAAGGCTTT	0.632000																								0							SO:0001583	missense			ENST00000484524.1	1	1	hg19	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.660722	0.67700	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81	4.8	3.9	0.45041	Flavodoxin/nitric oxide synthase (2);	0.118708	0.35772	N	0.002998	D	0.86230	0.5883	M	0.88377	2.95	0.33655	D	0.609001	D;D;D;D;D	0.76494	0.999;0.999;0.988;0.997;0.997	D;D;D;D;P	0.70716	0.917;0.97;0.97;0.948;0.892	D	0.90621	0.4559	10	0.72032	D	0.01	-20.3273	10.4856	0.44719	0.3522:0.6478:0.0:0.0	.	543;543;543;337;543	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	W	543;337;543;543	ENSP00000297494:R543W;ENSP00000417143:R337W;ENSP00000420215:R543W;ENSP00000420551:R543W	ENSP00000297494:R543W	R	+	1	2	NOS3	150329966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.991000	0.29654	1.123000	0.41961	0.655000	0.94253	CGG		TCGA-FB-AAPU-01A-31D-A40W-08	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	1	0	1	165	212	0	64	0	8.191065e-01	0	6	0	64	2		0	0	0	0	0	2	1	1.000000	164	207	0	63	2								-20.000000	1	1	121398	6	36	1	1	2	3	2.507732	1	0.700000	2	0.760383	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SDK1	221935	broad.mit.edu	37	7	4247761	4247761	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:4247761G>A	ENST00000404826.2	+	37	5384	c.5245G>A	c.(5245-5247)Gaa>Aaa	p.E1749K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1729K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			CAGCCAGAACGAAACGGAGAA	0.552000																								0							SO:0001583	missense			ENST00000404826.2	1	1	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.302508	0.23736	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53640	0.61;0.61	4.67	3.77	0.43336	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.667620	0.13455	N	0.386599	T	0.41604	0.1166	M	0.66560	2.04	0.28442	N	0.916768	P;B;B	0.37158	0.585;0.034;0.249	B;B;B	0.29524	0.103;0.015;0.082	T	0.33394	-0.9870	10	0.22706	T	0.39	.	12.5036	0.55970	0.0817:0.0:0.9183:0.0	.	1729;236;1749	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	K	1749;1729	ENSP00000385899:E1749K;ENSP00000374182:E1729K	ENSP00000374182:E1729K	E	+	1	0	SDK1	4214287	1.000000	0.71417	0.571000	0.28486	0.426000	0.31534	4.633000	0.61318	2.302000	0.77476	0.655000	0.94253	GAA		TCGA-FB-AAPU-01A-31D-A40W-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	0	16	271	0	44	0	0	0	1	0	44	2		0	0	0	0	0	2	1	0.999936	15	270	0	43	2								-18.313940	1	1	0	0		1	1	2	3	2.068427	0	0.700000	2	0.705160	0.160000	9.000000e-02	1.000000	0.160000	0.202249	0.160000	0	1.200000e-01	2.200000e-01
PEG10	23089	broad.mit.edu	37	7	94293789	94293789	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr7:94293789T>A	ENST00000482108.1	+	2	1400	c.921T>A	c.(919-921)aaT>aaA	p.N307K	PEG10_ENST00000488574.1_Missense_Mutation_p.N307K	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10			21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		ACGCTGACAATTGTCCTGCCA	0.582000																								0							SO:0001583	missense			ENST00000482108.1	0	1	hg19	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279380	0.23307	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.76186	-1.0;-1.0	4.42	1.51	0.23008	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	.	.	.	.	T	0.54013	0.1832	N	0.19112	0.55	0.22684	N	0.998851	B;B	0.13145	0.007;0.001	B;B	0.12156	0.007;0.002	T	0.36163	-0.9759	9	0.29301	T	0.29	.	4.0781	0.09914	0.0:0.5347:0.1743:0.291	.	383;307	B4DSP0;Q86TG7	.;PEG10_HUMAN	K	307	ENSP00000417587:N307K;ENSP00000418944:N307K	ENSP00000417587:N307K	N	+	3	2	PEG10	94131725	0.214000	0.23563	0.998000	0.56505	0.920000	0.55202	0.218000	0.17622	0.203000	0.20529	-0.262000	0.10625	AAT		TCGA-FB-AAPU-01A-31D-A40W-08	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	1	0	1	11	41	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.998946	11	41	0	8	2								-20.000000	1	1	0	0		1	2	2	4	3.465305	1	0.700000	2	0.823529	0.990000	5.800000e-01	1.000000	1.000000	0.926655	0.990000	1	7.900000e-01	1
KCNQ3	3786	broad.mit.edu	37	8	133184899	133184899	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:133184899T>A	ENST00000388996.4	-	7	1506	c.1086A>T	c.(1084-1086)caA>caT	p.Q362H	KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q242H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q362H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3			70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCTGACGGTGTTGCTCCTGCA	0.587000																								0							SO:0001583	missense			ENST00000388996.4	1	1	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525173	0.64747	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99186	-5.52;-5.44;-5.53	5.0	-2.3	0.06785	.	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	L	0.56396	1.775	0.46654	D	0.999145	D;D	0.71674	0.998;0.998	D;D	0.79784	0.993;0.993	D	0.97346	0.9960	10	0.87932	D	0	-21.3538	11.8756	0.52546	0.0:0.3411:0.0:0.6589	.	362;362	E7ET42;O43525	.;KCNQ3_HUMAN	H	362;242;362;351;241	ENSP00000373648:Q362H;ENSP00000429799:Q242H;ENSP00000428790:Q362H	ENSP00000373648:Q362H	Q	-	3	2	KCNQ3	133254081	0.890000	0.30428	0.991000	0.47740	0.984000	0.73092	0.009000	0.13219	-0.300000	0.08895	-0.315000	0.08773	CAA		TCGA-FB-AAPU-01A-31D-A40W-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	1	0	1	157	231	0	79	1	6.687366e-01	2	3	0	79	2		0	0	0	0	0	2	1	1.000000	151	228	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.284464	1	0.700000	2	0.735216	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ADRA1A	148	broad.mit.edu	37	8	26722090	26722090	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:26722090G>A	ENST00000519229.1	-	1	403	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	ADRA1A_ENST00000380572.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000380581.2_Missense_Mutation_p.R133C|ADRA1A_ENST00000380573.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000380582.3_Missense_Mutation_p.R133C|ADRA1A_ENST00000354550.4_Missense_Mutation_p.R133C|ADRA1A_ENST00000380587.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000380586.1_Missense_Mutation_p.R133C|ADRA1A_ENST00000358857.5_Missense_Mutation_p.R133C|ADRA1A_ENST00000276393.4_Missense_Mutation_p.R133C			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A			36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTTGGGTAGCGCAGCGGGTAG	0.617000																								0							SO:0001583	missense			ENST00000519229.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.33	3.599366	0.66332	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.058843	0.64402	D	0.000001	T	0.67429	0.2892	M	0.89214	3.015	0.54753	D	0.999985	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.75020	0.975;0.975;0.973;0.975;0.95;0.985	T	0.73585	-0.3936	10	0.87932	D	0	.	11.6903	0.51512	0.0:0.0:0.7031:0.2969	.	133;133;133;133;133;133	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	C	133	ENSP00000369960:R133C;ENSP00000369961:R133C;ENSP00000369956:R133C;ENSP00000369955:R133C;ENSP00000430793:R133C;ENSP00000346557:R133C;ENSP00000276393:R133C;ENSP00000369947:R133C;ENSP00000369946:R133C;ENSP00000351725:R133C	ENSP00000276393:R133C	R	-	1	0	ADRA1A	26778007	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.027000	0.64109	2.423000	0.82170	0.563000	0.77884	CGC		TCGA-FB-AAPU-01A-31D-A40W-08	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	1	0	1	48	149	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	47	147	0	53	2								-20.000000	1	1	0	0		1	0	1	1	1.873826	1	0.700000	2	0.674973	0.630000	4.900000e-01	0.800000	0.640000	0.647766	0.630000	0	5.600000e-01	7.300000e-01
EXTL3	2137	broad.mit.edu	37	8	28575489	28575489	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28575489C>A	ENST00000220562.4	+	3	2815	c.1913C>A	c.(1912-1914)cCt>cAt	p.P638H	EXTL3_ENST00000523149.1_Missense_Mutation_p.P254H|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3			36		Ovarian(32;0.069)			GGCTTTCGGCCTATTGGTGGT	0.557000																								0							SO:0001583	missense			ENST00000220562.4	1	1	hg19	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896758	0.72639	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.97016	-3.64;-4.21	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98335	1.0535	10	0.87932	D	0	-20.1467	20.2982	0.98569	0.0:1.0:0.0:0.0	.	638	O43909	EXTL3_HUMAN	H	254;638	ENSP00000428691:P254H;ENSP00000220562:P638H	ENSP00000220562:P638H	P	+	2	0	EXTL3	28631408	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.567000	0.82357	2.873000	0.98535	0.563000	0.77884	CCT		TCGA-FB-AAPU-01A-31D-A40W-08	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	1	0	1	72	215	0	86	1	9.989941e-01	14	20	0	86	2		0	0	0	0	0	2	1	1.000000	72	212	0	83	2								-20.000000	1	1	0	0		1	0	1	1	1.873826	1	0.700000	2	0.674973	0.650000	5.300000e-01	0.790000	0.660000	0.665015	0.650000	0	5.900000e-01	7.300000e-01
INTS9	55756	broad.mit.edu	37	8	28717081	28717081	+	Splice_Site	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr8:28717081C>A	ENST00000521022.1	-	2	91		c.e2-1		INTS9_ENST00000397363.4_Intron|INTS9_ENST00000416984.2_Splice_Site|INTS9_ENST00000521777.1_Splice_Site	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9			19		Ovarian(32;0.0439)			ACAGGCAATACTGAAAAAAAT	0.383000																								0							SO:0001630	splice_region_variant			ENST00000521022.1	1	1	hg19	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162573	0.57368	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000523436	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5649	0.91113	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS9	28773000	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.720000	0.84759	2.456000	0.83038	0.655000	0.94253	.		TCGA-FB-AAPU-01A-31D-A40W-08	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	1	0	0	29	93	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	1.000000	29	93	0	29	2								-19.986440	1	1	0	0		1	0	1	1	1.873826	1	0.700000	2	0.674973	0.620000	4.400000e-01	0.830000	0.620000	0.635506	0.620000	0	5.200000e-01	7.300000e-01
TEX10	54881	broad.mit.edu	37	9	103090198	103090198	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:103090198G>C	ENST00000374902.4	-	8	1848	c.1672C>G	c.(1672-1674)Caa>Gaa	p.Q558E	TEX10_ENST00000535814.1_Missense_Mutation_p.Q561E	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10			38		Acute lymphoblastic leukemia(62;0.0527)			TGAGCAAGTTGCAATGGTAAG	0.398000																								0							SO:0001583	missense			ENST00000374902.4	1	1	hg19	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593958	0.86953	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	L	0.34521	1.04	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.993	D;D;P	0.72982	0.97;0.979;0.708	T	0.63171	-0.6697	9	0.29301	T	0.29	-6.3079	19.0215	0.92917	0.0:0.0:1.0:0.0	.	561;426;558	B4DYV2;E7ERG2;Q9NXF1	.;.;TEX10_HUMAN	E	561;558;426	.	ENSP00000364037:Q558E	Q	-	1	0	TEX10	102130019	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.932000	0.92897	2.494000	0.84150	0.655000	0.94253	CAA		TCGA-FB-AAPU-01A-31D-A40W-08	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	1	0	1	63	110	0	53	1	9.999999e-01	28	20	0	53	2		0	0	0	0	0	2	1	1.000000	62	108	0	52	2								-20.000000	1	1	0	0		1	1	2	3	2.013462	0	0.700000	2	0.701046	0.990000	8.400000e-01	1.000000	1.000000	0.977677	0.990000	1	9.300000e-01	1
EPB41L4B	54566	broad.mit.edu	37	9	111970268	111970268	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:111970268G>A	ENST00000374566.3	-	18	2331	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B			39					CACATGATCCGCAACAGGGGA	0.423000																								0							SO:0001583	missense			ENST00000374566.3	0	1	hg19	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711206	0.48517	0.0	4.86E-4	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84516	-1.86	5.49	5.49	0.81192	.	0.000000	0.39834	N	0.001248	T	0.78130	0.4235	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.12156	0.007	T	0.75255	-0.3382	10	0.87932	D	0	.	16.9032	0.86118	0.0:0.0:1.0:0.0	.	605	Q9H329	E41LB_HUMAN	V	290;605	ENSP00000363694:A605V	ENSP00000262536:A290V	A	-	2	0	EPB41L4B	111010089	0.984000	0.35163	0.130000	0.21974	0.350000	0.29205	4.611000	0.61162	2.583000	0.87209	0.561000	0.74099	GCG		TCGA-FB-AAPU-01A-31D-A40W-08	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	0	0	0	5	356	1	90		0	0	0	1	90	2		0	0	0	0	0	2	0	0.026078	5	347	1	90	14								-1.970880	0	1	120806	18	46	1	1	2	3	2.013462	0	0.700000	2	0.701046	0.040000	0	0.090000	0.040000	0.047127	0.040000	0	2.000000e-02	7.000000e-02
AMBP	259	broad.mit.edu	37	9	116837247	116837247	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:116837247G>C	ENST00000265132.3	-	3	592	c.330C>G	c.(328-330)caC>caG	p.H110Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor			11				Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TACTGGATTTGTGATAGAGAA	0.438000																								0							SO:0001583	missense			ENST00000265132.3	1	1	hg19	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195027	0.58017	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.07444	3.19	5.43	2.45	0.29901	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.579014	0.19553	N	0.111528	T	0.19406	0.0466	M	0.83953	2.67	0.37815	D	0.928163	D;D	0.60575	0.988;0.966	P;P	0.56343	0.796;0.617	T	0.05084	-1.0907	10	0.38643	T	0.18	.	4.7856	0.13223	0.1675:0.0:0.6611:0.1713	.	51;110	B7Z8R6;P02760	.;AMBP_HUMAN	Q	110;51	ENSP00000265132:H110Q	ENSP00000265132:H110Q	H	-	3	2	AMBP	115877068	0.031000	0.19500	0.934000	0.37439	0.845000	0.48019	0.132000	0.15891	0.686000	0.31488	0.561000	0.74099	CAC		TCGA-FB-AAPU-01A-31D-A40W-08	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	1	0	1	86	212	0	101	1	9.404316e-01	8	6	0	101	2		0	0	0	0	0	2	1	1.000000	85	206	0	100	2								-20.000000	1	1	0	0		1	1	2	3	2.013462	0	0.700000	2	0.701046	0.820000	6.800000e-01	0.980000	0.830000	0.829881	0.820000	0	7.500000e-01	9.100000e-01
ASTN2	23245	broad.mit.edu	37	9	120053699	120053699	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:120053699C>A	ENST00000313400.4	-	2	636	c.536G>T	c.(535-537)aGc>aTc	p.S179I	ASTN2_ENST00000373996.3_Missense_Mutation_p.S179I|ASTN2_ENST00000361209.2_Missense_Mutation_p.S179I|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2			102					CTGCCCGGAGCTGCTCATGGA	0.592000																								0							SO:0001583	missense			ENST00000313400.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	21.8	4.209137	0.79240	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11495	2.8;2.8;2.77	5.58	5.58	0.84498	.	0.141111	0.56097	D	0.000032	T	0.15046	0.0363	N	0.19112	0.55	0.38032	D	0.935204	P;P;D	0.61080	0.911;0.855;0.989	P;B;P	0.58820	0.563;0.36;0.846	T	0.08126	-1.0737	9	.	.	.	-29.8448	13.1929	0.59722	0.0:0.9271:0.0:0.0729	.	179;179;179	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	I	179	ENSP00000314038:S179I;ENSP00000363108:S179I;ENSP00000354504:S179I	.	S	-	2	0	ASTN2	119093520	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.132000	0.50523	2.782000	0.95742	0.655000	0.94253	AGC		TCGA-FB-AAPU-01A-31D-A40W-08	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	53	344	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1.000000	52	335	0	68	2								-20.000000	1	1	121410	1	33	1	1	2	3	2.036802	0	0.700000	2	0.702085	0.380000	2.900000e-01	0.500000	0.380000	0.394958	0.380000	0	3.300000e-01	4.400000e-01
CCIN	881	broad.mit.edu	37	9	36170825	36170825	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36170825C>T	ENST00000335119.2	+	1	1437	c.1326C>T	c.(1324-1326)gtC>gtT	p.V442V		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin			21			STAD - Stomach adenocarcinoma(86;0.228)		TCTCCCGGGTCGGGGTAGTGG	0.552000																								0							SO:0001819	synonymous_variant			ENST00000335119.2	1	1	hg19	CCDS6599.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	1	0	1	80	193	0	96		0	0	0	0	96	2		0	0	0	0	0	2	1	1.000000	79	187	0	95	2								-20.000000	1	1	121412	2	34	1	0	0	0	1.909640	0	0.700000	2	0.684543	0.790000	6.500000e-01	0.940000	0.800000	0.798856	0.790000	0	7.100000e-01	8.700000e-01
RNF38	152006	broad.mit.edu	37	9	36351123	36351123	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351123C>G	ENST00000259605.6	-	9	1359	c.1252G>C	c.(1252-1254)Gaa>Caa	p.E418Q	RNF38_ENST00000377885.2_Missense_Mutation_p.E335Q|RNF38_ENST00000350199.4_Missense_Mutation_p.E335Q|RNF38_ENST00000353739.4_Missense_Mutation_p.E368Q|RNF38_ENST00000357058.3_Missense_Mutation_p.E335Q|RNF38_ENST00000377877.4_Missense_Mutation_p.E342Q	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38			11			STAD - Stomach adenocarcinoma(86;0.228)		TCGTAATTTTCTACTTCTCCA	0.378000																								0							SO:0001583	missense			ENST00000259605.6	1	1	hg19	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499260	0.85069	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.16073	2.37;2.4;2.41;2.41;2.41;2.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.999	D;D;D	0.87578	0.998;0.958;0.995	T	0.22138	-1.0225	10	0.66056	D	0.02	-6.4143	16.4624	0.84064	0.0:1.0:0.0:0.0	.	342;368;418	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	Q	418;368;335;335;335;235;342;342	ENSP00000259605:E418Q;ENSP00000335239:E368Q;ENSP00000367117:E335Q;ENSP00000349566:E335Q;ENSP00000343947:E335Q;ENSP00000367109:E342Q	ENSP00000259605:E418Q	E	-	1	0	RNF38	36341123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.103000	0.77014	2.553000	0.86117	0.563000	0.77884	GAA		TCGA-FB-AAPU-01A-31D-A40W-08	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	1	0	1	20	45	0	26	1	9.965730e-01	13	11	0	26	2		0	0	0	0	0	2	1	0.999998	19	44	0	26	2								-20.000000	1	0	0	0		1						0.700000	2									0	0
RNF38	152006	broad.mit.edu	37	9	36351150	36351150	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:36351150C>T	ENST00000259605.6	-	9	1332	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	RNF38_ENST00000377885.2_Missense_Mutation_p.E326K|RNF38_ENST00000350199.4_Missense_Mutation_p.E326K|RNF38_ENST00000353739.4_Missense_Mutation_p.E359K|RNF38_ENST00000357058.3_Missense_Mutation_p.E326K|RNF38_ENST00000377877.4_Missense_Mutation_p.E333K	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38			11			STAD - Stomach adenocarcinoma(86;0.228)		ACATCTAATTCAAAGCTGAAA	0.358000																								0							SO:0001583	missense			ENST00000259605.6	1	1	hg19	CCDS6603.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451466	0.84209	.	.	ENSG00000137075	ENST00000259605;ENST00000353739;ENST00000377885;ENST00000357058;ENST00000350199;ENST00000377876;ENST00000377870;ENST00000377877	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	L	0.40543	1.245	0.80722	D	1	P;B;P	0.47910	0.82;0.38;0.902	P;B;P	0.46110	0.504;0.291;0.504	T	0.54596	-0.8270	10	0.54805	T	0.06	-6.5436	16.4624	0.84064	0.0:1.0:0.0:0.0	.	333;359;409	B1AM81;Q9H0F5-2;Q9H0F5	.;.;RNF38_HUMAN	K	409;359;326;326;326;226;333;333	ENSP00000259605:E409K;ENSP00000335239:E359K;ENSP00000367117:E326K;ENSP00000349566:E326K;ENSP00000343947:E326K;ENSP00000367109:E333K	ENSP00000259605:E409K	E	-	1	0	RNF38	36341150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.061000	0.76699	2.553000	0.86117	0.563000	0.77884	GAA		TCGA-FB-AAPU-01A-31D-A40W-08	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	1	0	1	26	53	0	28	1	9.990121e-01	16	11	0	28	2		0	0	0	0	0	2	1	1.000000	25	53	0	28	2								-20.000000	1	0	0	0		1						0.700000	2									0	0
PCSK5	5125	broad.mit.edu	37	9	78686787	78686787	+	Silent	SNP	G	G	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chr9:78686787G>A	ENST00000545128.1	+	7	1405	c.867G>A	c.(865-867)cgG>cgA	p.R289R	PCSK5_ENST00000376767.3_Silent_p.R289R|PCSK5_ENST00000376752.4_Silent_p.R289R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5			55					CCCTCACCCGGCAAGCCTTTG	0.507000																								0							SO:0001819	synonymous_variant			ENST00000545128.1	0	1	hg19	CCDS55320.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	0	7	651	1	166	0	4.506040e-02	0	27	1	166	2		0	0	0	0	0	2	0	0.062121	7	645	1	165	15								-1.976864	0	1	0	0		1	1	2	3	2.013462	0	0.700000	2	0.701046	0.020000	0	0.070000	0.040000	0.034049	0.020000	0	1.000000e-02	5.000000e-02
RNF128	79589	broad.mit.edu	37	X	105970227	105970227	+	Silent	SNP	C	C	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:105970227C>T	ENST00000255499.2	+	1	334	c.84C>T	c.(82-84)gcC>gcT	p.A28A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase			11					TCCTGCTGGCCCTGAGTCCGC	0.711000																								0							SO:0001819	synonymous_variant			ENST00000255499.2	1	1	hg19	CCDS14521.1																																																																																				TCGA-FB-AAPU-01A-31D-A40W-08	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	1	0	1	11	27	0	13	1	9.999999e-01	127	0	0	13	2		0	0	0	0	0	2	1	0.998614	11	24	0	13	2								-19.999880	1	1	0	0		1	0	1	1			0.700000	2	0.700000	0.830000	4.700000e-01	1.000000	1.000000	0.819220	0.830000	0	6.300000e-01	1
ACSL4	2182	broad.mit.edu	37	X	108921610	108921610	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:108921610G>T	ENST00000469796.2	-	7	1209	c.813C>A	c.(811-813)gaC>gaA	p.D271E	ACSL4_ENST00000348502.6_Missense_Mutation_p.D230E|ACSL4_ENST00000340800.2_Missense_Mutation_p.D271E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4			22				Icosapent(DB00159)|Rosiglitazone(DB00412)	CAATGGCCATGTCTGAAGGCG	0.378000													Pancreas(188;358 2127 38547 41466 45492)											0							SO:0001583	missense			ENST00000469796.2	1	1	hg19	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875527	0.72180	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.14893	2.47;2.47;2.47	5.57	3.8	0.43715	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.92412	3.305	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.50734	-0.8793	10	0.87932	D	0	-16.4258	8.8404	0.35137	0.2351:0.0:0.7649:0.0	.	271	O60488	ACSL4_HUMAN	E	230;271;271	ENSP00000262835:D230E;ENSP00000419171:D271E;ENSP00000339787:D271E	ENSP00000339787:D271E	D	-	3	2	ACSL4	108808266	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.011000	0.40922	0.533000	0.28675	0.600000	0.82982	GAC		TCGA-FB-AAPU-01A-31D-A40W-08	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	1	0	1	61	359	0	121	1	9.997582e-01	32	42	0	121	2		0	0	0	0	0	2	1	1.000000	60	354	0	120	2								-20.000000	1	1	0	0		1	0	1	1			0.700000	2	0.700000	0.410000	3.200000e-01	0.510000	0.420000	0.419331	0.410000	0	3.600000e-01	4.700000e-01
KIAA1210	57481	broad.mit.edu	37	X	118221500	118221500	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:118221500C>A	ENST00000402510.2	-	11	3692	c.3693G>T	c.(3691-3693)aaG>aaT	p.K1231N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210			64					TGACTTCAGGCTTTGATAAAG	0.448000																								0							SO:0001583	missense			ENST00000402510.2	1	1	hg19	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.176|8.176	0.792717|0.792717	0.16327|0.16327	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.14516	.|2.5	4.38|4.38	-2.02|-2.02	0.07388|0.07388	.|.	.|.	.|.	.|.	.|.	T|T	0.07052|0.07052	0.0179|0.0179	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P	.|0.37573	.|0.6	.|B	.|0.36289	.|0.221	T|T	0.22977|0.22977	-1.0201|-1.0201	5|9	.|0.40728	.|T	.|0.16	.|.	0.6478|0.6478	0.00821|0.00821	0.292:0.2336:0.2834:0.191|0.292:0.2336:0.2834:0.191	.|.	.|1231	.|Q9ULL0	.|K1210_HUMAN	S|N	638|1231	.|ENSP00000384670:K1231N	.|ENSP00000384670:K1231N	A|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105528|118105528	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.729000|-0.729000	0.04920|0.04920	-0.638000|-0.638000	0.05509|0.05509	-0.192000|-0.192000	0.12808|0.12808	GCC|AAG		TCGA-FB-AAPU-01A-31D-A40W-08	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	1	0	1	23	97	0	36		0	0	0	0	36	2		0	0	0	0	0	2	1	1.000000	23	97	0	36	2								-20.000000	1	1	0	0		1	0	1	1			0.700000	2	0.700000	0.540000	3.600000e-01	0.760000	0.540000	0.560059	0.540000	0	4.500000e-01	6.600000e-01
CXorf27	0	broad.mit.edu	37	X	37850202	37850202	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:37850202A>T	ENST00000341016.3	+	1	133	c.110A>T	c.(109-111)cAa>cTa	p.Q37L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN				8					CGCGTTGTGCAAGATGAACGA	0.478000																								0							SO:0001583	missense			ENST00000341016.3	1	1	hg19	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.616948	0.46736	.	.	ENSG00000187516	ENST00000341016	T	0.48836	0.8	3.7	-3.49	0.04724	Histone-fold (2);	.	.	.	.	T	0.53238	0.1784	L	0.48642	1.525	0.09310	N	1	D	0.65815	0.995	D	0.63877	0.919	T	0.52305	-0.8593	9	0.59425	D	0.04	.	9.1117	0.36732	0.443:0.0:0.557:0.0	.	37	O75409	HYPM_HUMAN	L	37	ENSP00000339511:Q37L	ENSP00000339511:Q37L	Q	+	2	0	CXorf27	37735146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.197000	0.17197	-0.845000	0.04179	0.417000	0.27973	CAA		TCGA-FB-AAPU-01A-31D-A40W-08	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1	1	0	1	62	120	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	60	120	0	53	2								-20.000000	1	1	0	0		1	0	1	1			0.700000	2	0.700000	0.960000	7.700000e-01	1.000000	1.000000	0.946865	0.960000	1	8.700000e-01	1
DGKK	139189	broad.mit.edu	37	X	50136189	50136189	+	RNA	SNP	G	G	T			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50136189G>T	ENST00000376025.2	-	0	1615							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa			45	Ovarian(276;0.236)				GAACACTTGAGATGGGTTAAG	0.453000																								0											ENST00000376025.2	1	1	hg19																																																																																					TCGA-FB-AAPU-01A-31D-A40W-08	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	0	0	0	7	86	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	0.979708	7	83	0	23	2								-11.980330	1	1	0	0		1	0	1	1			0.700000	2	0.700000	0.220000	1.000000e-01	0.400000	0.220000	0.239489	0.220000	0	1.500000e-01	3.200000e-01
SHROOM4	57477	broad.mit.edu	37	X	50378166	50378166	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPU-01A-31D-A40W-08	TCGA-FB-AAPU-11A-12D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c40787c-0278-4af4-9040-ab073ef2287b	6d31d43e-5e3f-4c55-a7b2-1188f82ab4f8	g.chrX:50378166C>G	ENST00000289292.7	-	4	1190	c.907G>C	c.(907-909)Gtc>Ctc	p.V303L	SHROOM4_ENST00000460112.3_Missense_Mutation_p.V187L|SHROOM4_ENST00000376020.2_Missense_Mutation_p.V303L			Q9ULL8	SHRM4_HUMAN	shroom family member 4			52	Ovarian(276;0.236)				GGCAAGGGGACCACAGGCTCA	0.587000																								0							SO:0001583	missense			ENST00000289292.7	1	1	hg19	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	1.010	-0.688151	0.03328	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.13538	2.99;2.99;2.58	5.95	5.1	0.69264	.	1.004360	0.08012	N	0.990475	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.32745	-0.9895	10	0.10636	T	0.68	.	13.1671	0.59577	0.0:0.9205:0.0:0.0795	.	303	Q9ULL8	SHRM4_HUMAN	L	303;303;187	ENSP00000289292:V303L;ENSP00000365188:V303L;ENSP00000421450:V187L	ENSP00000289292:V303L	V	-	1	0	SHROOM4	50394906	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	1.313000	0.33585	1.279000	0.44446	0.600000	0.82982	GTC		TCGA-FB-AAPU-01A-31D-A40W-08	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	1	0	1	23	48	0	21	0	1.110700e-01	0	2	0	21	2		0	0	0	0	0	2	1	1.000000	23	48	0	21	2								-20.000000	1	1	0	0		1	0	1	1			0.700000	2	0.700000	0.920000	6.300000e-01	1.000000	1.000000	0.898603	0.920000	1	7.700000e-01	1
