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
C18orf8	29919	broad.mit.edu	37	18	21098885	21098887	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			CAT	-	CAT	CAT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr18:21098885_21098887delCAT	ENST00000269221.3	+	8	795_797	c.685_687delCAT	c.(685-687)catdel	p.H230del	C18orf8_ENST00000590868.1_In_Frame_Del_p.H182del	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8			21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)				CTTCTTGAGGCATCATTCTCGGA	0.424000																								0							SO:0001651	inframe_deletion			ENST00000269221.3	1	1	hg19	CCDS32803.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	1	0	0	70	306	0	57	1	9.998735e-01	16	44	0	57	2	0	0	0	0	0	0		1	1.000000	84	314	0	56	2	0	0	0	0	0	0		-20.000000	1	0	0	0		1	0	2	2	1.872751	1	0.380000	1.970000	0.380000	0.990000	7.800000e-01	1.000000	1.000000	0.956841	0.990000	1	0.880000	1.000000
TNFRSF10A	8797	broad.mit.edu	37	8	23054679	23054701	+	Frame_Shift_Del	DEL	CAGCCTCCTCCTCTGAGACCCTT	CAGCCTCCTCCTCTGAGACCCTT	-			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:23054679_23054701delCAGCCTCCTCCTCTGAGACCCTT	ENST00000221132.3	-	9	1095_1117	c.1031_1053delAAGGGTCTCAGAGGAGGAGGCTG	c.(1030-1053)gaagggtctcagaggaggaggctgfs	p.EGSQRRRL344fs		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a			16		Prostate(55;0.0421)|Breast(100;0.14)			CTGGAACCAGCAGCCTCCTCCTCTGAGACCCTTCAGCTTCTGC	0.556000																								0							SO:0001589	frameshift_variant			ENST00000221132.3	1	1	hg19	CCDS6039.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	0	0	0	17	372	0	102	0	6.688081e-01	0	51	0	102	2	0	0	0	0	0	0		1	0.775461	47	400	1	103	16	0	0	0	0	0	0		-4.112441	1	1	0	0		1	0	1	1	1.694817	1	0.380000	1.970000	0.243441	0.180000	1.100000e-01	0.290000	0.190000	0.196979	0.180000	0	0.140000	0.240000
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	SEC31B_ENST00000535773.1_Silent_p.R21R|NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000451524.1_Silent_p.R178R|NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.R181R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)			36		Colorectal(252;0.117)			GTTGGGCTTGCCGGTTCCAAG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000370345.3	0	1	hg19	CCDS7495.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	0	0	0	6	507	0	50	0	3.017397e-03	0	6	0	50	2		0	0	0	0	0	2	1	0.964087	6	502	0	50	2		0	0	0	0	0	2	-1.972706	0	1	0	0		1	1	2	3	2.071752	0	0.380000	1.970000	0.390424	0.060000	2.000000e-02	1.000000	0.060000	0.139997	0.060000	0	0.040000	0.110000
CHST15	51363	broad.mit.edu	37	10	125805512	125805512	+	Missense_Mutation	SNP	G	G	A	rs145631200		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr10:125805512G>A	ENST00000346248.5	-	2	859	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	CHST15_ENST00000421115.1_Missense_Mutation_p.R73C|CHST15_ENST00000435907.1_Missense_Mutation_p.R73C|CHST15_ENST00000462406.1_5'Flank	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15			26					TTTTTGAAGCGCAAAAACCCA	0.453000																								0							SO:0001583	missense			ENST00000346248.5	0	1	hg19	CCDS7638.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.620	0.676663	0.14841	6.81E-4	0.0	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	4.77	0.60923	.	0.253960	0.41294	N	0.000904	T	0.20740	0.0499	N	0.04508	-0.205	0.31534	N	0.660833	B;B	0.25007	0.116;0.071	B;B	0.19391	0.025;0.011	T	0.13469	-1.0508	9	0.44086	T	0.13	-28.6264	9.5674	0.39407	0.1996:0.0:0.8004:0.0	.	73;73	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	73	.	ENSP00000333947:R73C	R	-	1	0	CHST15	125795502	0.905000	0.30787	0.951000	0.38953	0.262000	0.26303	1.908000	0.39907	1.415000	0.47037	-0.219000	0.12488	CGC		TCGA-3A-A9IB-01A-21D-A397-08	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	0	0	0	6	414	0	87	0	3.192314e-01	0	70	0	87	2		0	0	0	0	0	2	1	0.964184	6	409	0	86	2		0	0	0	0	0	2	-2.478128	0	1	121412	10	43	1	1	2	3	2.071752	0	0.380000	1.970000	0.390424	0.080000	2.000000e-02	1.000000	0.080000	0.154757	0.080000	0	0.050000	0.140000
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102822878G>A	ENST00000260302.3	-	5	690	c.662C>T	c.(661-663)gCg>gTg	p.A221V	MMP13_ENST00000340273.4_Missense_Mutation_p.A221V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)			27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		Marimastat(DB00786)	GAACTCATGCGCAGCAACAAG	0.423000																								0							SO:0001583	missense			ENST00000260302.3	0	1	hg19	CCDS8324.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	36	5.655859	0.96724	6.81E-4	0.0	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21543	2.0;2.0	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.093477	0.64402	D	0.000001	T	0.48277	0.1491	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.32955	-0.9887	10	0.59425	D	0.04	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	221	P45452	MMP13_HUMAN	V	221	ENSP00000260302:A221V;ENSP00000339672:A221V	ENSP00000260302:A221V	A	-	2	0	MMP13	102328088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.946000	0.87746	2.866000	0.98385	0.650000	0.86243	GCG		TCGA-3A-A9IB-01A-21D-A397-08	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	0	0	7	521	0	63	0	0	0	1	0	63	2		0	0	0	0	0	2	1	0.980200	7	517	0	63	2		0	0	0	0	0	2	-2.447729	0	1	121412	17	46	1	1	2	3	2.044609	0	0.380000	1.970000	0.385835	0.070000	2.000000e-02	1.000000	0.070000	0.114902	0.070000	0	0.040000	0.110000
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)			27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473000																								0							SO:0001583	missense			ENST00000260302.3	0	1	hg19	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		TCGA-3A-A9IB-01A-21D-A397-08	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	0	0	0	7	692	0	75	0	0	0	1	0	75	2		0	0	0	0	0	2	1	0.980570	7	691	0	74	2		0	0	0	0	0	2	-1.929216	0	1	0	0		1	1	2	3	2.044609	0	0.380000	1.970000	0.385835	0.050000	1.000000e-02	1.000000	0.060000	0.096228	0.050000	0	0.030000	0.090000
SLC5A12	159963	broad.mit.edu	37	11	26743035	26743035	+	Missense_Mutation	SNP	C	C	T	rs142065702		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:26743035C>T	ENST00000396005.3	-	1	536	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R76H	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	p.R76L(2)		35					TGCCCCAAAGCGGTAGACTTC	0.512000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000396005.3	1	1	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467643	0.63625	2.27E-4	0.0	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87966	-2.32;-2.32	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	M	0.73962	2.25	0.53688	D	0.99997	B;P	0.50617	0.227;0.937	B;P	0.47015	0.082;0.534	D	0.88612	0.3157	10	0.35671	T	0.21	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	76;76	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	H	76	ENSP00000379326:R76H;ENSP00000280467:R76H	ENSP00000280467:R76H	R	-	2	0	SLC5A12	26699611	0.985000	0.35326	1.000000	0.80357	0.898000	0.52572	2.683000	0.46943	2.643000	0.89663	0.585000	0.79938	CGC		TCGA-3A-A9IB-01A-21D-A397-08	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	1	0	1	50	221	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	1.000000	50	220	0	46	2		0	0	0	0	0	2	-20.000000	1	1	121412	4	39	1	1	2	3	2.044609	0	0.380000	1.970000	0.385835	0.980000	7.500000e-01	1.000000	1.000000	0.945417	0.980000	1	0.860000	1.000000
RTN3	10313	broad.mit.edu	37	11	63449189	63449189	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr11:63449189C>T	ENST00000377819.5	+	1	235	c.81C>T	c.(79-81)ggC>ggT	p.G27G	RTN3_ENST00000354497.4_Silent_p.G27G|RTN3_ENST00000538995.1_3'UTR|RTN3_ENST00000540798.1_Silent_p.G27G|RTN3_ENST00000537981.1_Silent_p.G27G|RTN3_ENST00000356000.3_Silent_p.G27G|RTN3_ENST00000339997.4_Silent_p.G27G|RTN3_ENST00000341307.2_Silent_p.G27G	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3			20					CGCCCGGCGGCGGCGGGAGCC	0.746000																								0							SO:0001819	synonymous_variant			ENST00000377819.5	1	1	hg19	CCDS58141.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	0	31	125	0	50	1	1	73	134	0	50	2		0	0	0	0	0	2	1	1.000000	30	123	0	48	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.044609	0	0.380000	1.970000	0.385835	0.990000	7.500000e-01	1.000000	1.000000	0.963169	0.990000	1	0.890000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-3A-A9IB-01A-21D-A397-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	66	244	0	65	1	9.876195e-01	13	15	0	65	2	1	1	75	311	0	223	2	1	1.000000	66	243	0	64	2	1	1	2089	5927	19	7994	31	-20.000000	1	1	121404	2	44	1	1	2	3	2.053135	0	0.380000	1.970000	0.408115	0.990000	9.400000e-01	1.000000	1.000000	0.996734	0.990000	1	0.990000	1.000000
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85			36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)				CCTGCTTCACGCACTGTGCGT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000257901.3	1	1	hg19	CCDS8824.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	1	0	1	129	606	0	182		0	0	0	0	182	2		0	0	0	0	0	2	1	1.000000	123	584	0	205	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.053135	0	0.380000	1.970000	0.408115	0.980000	8.200000e-01	1.000000	1.000000	0.960504	0.980000	1	0.890000	1.000000
ERBB3	2065	broad.mit.edu	37	12	56495712	56495712	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:56495712A>G	ENST00000267101.3	+	28	4342	c.3902A>G	c.(3901-3903)cAg>cGg	p.Q1301R	PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.Q658R|RP11-603J24.17_ENST00000548595.1_RNA|ERBB3_ENST00000549832.1_Missense_Mutation_p.Q421R|PA2G4_ENST00000303305.6_5'Flank|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000553131.1_Missense_Mutation_p.Q542R|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q1242R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3			8			OV - Ovarian serous cystadenocarcinoma(18;0.112)		CCTGGACATCAGGCCCCCCAT	0.537000																								0							SO:0001583	missense			ENST00000267101.3	0	1	hg19	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	7.897	0.733645	0.15574	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78003	-1.0;-0.92;-0.99;-1.14;-0.88	5.39	4.26	0.50523	.	0.563354	0.17890	N	0.158548	T	0.56093	0.1962	N	0.14661	0.345	0.23855	N	0.996651	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37454	-0.9705	10	0.07482	T	0.82	.	8.109	0.30903	0.8379:0.0:0.1621:0.0	.	1242;421;1301	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	R	1301;658;1242;424;542;421	ENSP00000267101:Q1301R;ENSP00000399178:Q658R;ENSP00000408340:Q1242R;ENSP00000449129:Q542R;ENSP00000448729:Q421R	ENSP00000267101:Q1301R	Q	+	2	0	ERBB3	54781979	0.059000	0.20769	0.807000	0.32361	0.337000	0.28794	0.589000	0.23939	1.069000	0.40788	0.533000	0.62120	CAG		TCGA-3A-A9IB-01A-21D-A397-08	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3	0	0	0	6	717	0	140	0	5.702678e-01	1	210	0	140	2		0	0	0	0	0	2	1	0.964309	6	712	0	139	2		0	0	0	0	0	2	-2.336163	0	1	0	0		1	1	2	3	2.053135	0	0.380000	1.970000	0.408115	0.050000	0	1.000000	0.050000	0.222902	0.050000	0	0.020000	1.000000
LRP1	4035	broad.mit.edu	37	12	57594247	57594247	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:57594247G>A	ENST00000243077.3	+	63	10503	c.10037G>A	c.(10036-10038)tGc>tAc	p.C3346Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1			184				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACGACAAGTGCATCCCCTTC	0.617000																								0							SO:0001583	missense			ENST00000243077.3	1	1	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652311	0.67472	.	.	ENSG00000123384	ENST00000243077	D	0.99919	-8.0	4.56	4.56	0.56223	Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	H	0.97491	4.015	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96047	0.9028	10	0.59425	D	0.04	.	16.3322	0.83039	0.0:0.0:1.0:0.0	.	3346	Q07954	LRP1_HUMAN	Y	3346	ENSP00000243077:C3346Y	ENSP00000243077:C3346Y	C	+	2	0	LRP1	55880514	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.765000	0.85310	2.386000	0.81285	0.555000	0.69702	TGC		TCGA-3A-A9IB-01A-21D-A397-08	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	0	72	216	0	51	1	1	64	203	0	51	2		0	0	0	0	0	2	1	1.000000	71	213	0	51	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.053135	0	0.380000	1.970000	0.408115	0.990000	9.900000e-01	1.000000	1.000000	0.999948	0.990000	1	0.990000	1.000000
B4GALNT3	283358	broad.mit.edu	37	12	662878	662878	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr12:662878G>A	ENST00000266383.5	+	14	1802	c.1789G>A	c.(1789-1791)Gca>Aca	p.A597T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3			26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		GGTGGCGGCCGCAGGCCAGGA	0.617000																								0							SO:0001583	missense			ENST00000266383.5	0	1	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	7.395	0.631635	0.14322	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32515	3.46;1.45	5.63	2.78	0.32641	.	0.762765	0.12432	N	0.469495	T	0.23886	0.0578	L	0.47716	1.5	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.001	T	0.30357	-0.9981	10	0.18276	T	0.48	-0.4872	7.5465	0.27770	0.0673:0.2194:0.601:0.1124	.	500;597	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	597;500	ENSP00000266383:A597T;ENSP00000322953:A500T	ENSP00000266383:A597T	A	+	1	0	B4GALNT3	533139	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.620000	0.24403	0.309000	0.22966	-1.332000	0.01269	GCA		TCGA-3A-A9IB-01A-21D-A397-08	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	0	0	0	4	230	0	41	0	1.752873e-01	0	35	0	41	2		0	0	0	0	0	2	1	0.884931	4	224	0	40	2		0	0	0	0	0	2	-5.106352	1	1	121392	8	41	1	1	2	3	2.053135	0	0.380000	1.970000	0.408115	0.110000	3.000000e-02	1.000000	0.090000	0.274625	0.110000	0	0.060000	1.000000
MYO16	23026	broad.mit.edu	37	13	109779895	109779895	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr13:109779895G>A	ENST00000357550.2	+	30	4023	c.3982G>A	c.(3982-3984)Gaa>Aaa	p.E1328K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1328K|MYO16_ENST00000457511.2_Missense_Mutation_p.E840K	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		AGCGGCCAACGAAGGTCAGCC	0.662000																								0							SO:0001583	missense			ENST00000357550.2	1	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151349	0.57151	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	T;T;T	0.42900	0.96;0.96;0.96	5.09	5.09	0.68999	.	0.000000	0.38605	U	0.001637	T	0.50394	0.1613	M	0.67953	2.075	0.48571	D	0.999678	D;D	0.59767	0.986;0.985	P;B	0.47705	0.555;0.41	T	0.53330	-0.8454	9	.	.	.	.	17.5095	0.87756	0.0:0.0:1.0:0.0	.	840;1328	F8W883;Q9Y6X6	.;MYO16_HUMAN	K	1328;1328;840	ENSP00000349145:E1328K;ENSP00000350160:E1328K;ENSP00000401633:E840K	.	E	+	1	0	MYO16	108577896	1.000000	0.71417	0.922000	0.36590	0.090000	0.18270	5.411000	0.66386	2.367000	0.80283	0.563000	0.77884	GAA		TCGA-3A-A9IB-01A-21D-A397-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1	18	114	0	28	0	0	0	1	0	28	2		0	0	0	0	0	2	1	0.999987	16	114	0	26	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	2	2	4	2.246067	1	0.380000	1.970000	0.445339	0.870000	5.200000e-01	1.000000	1.000000	0.848516	0.870000	1	0.670000	1.000000
FBN1	2200	broad.mit.edu	37	15	48707785	48707785	+	Missense_Mutation	SNP	C	C	T	rs149062442		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr15:48707785C>T	ENST00000316623.5	-	64	8454	c.7999G>A	c.(7999-8001)Gag>Aag	p.E2667K	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1			139		all_lung(180;0.00279)			TAACCGCCCTCGGTATTGGAA	0.542000																								0							SO:0001583	missense			ENST00000316623.5	1	1	hg19	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651521	0.47362	2.27E-4	1.16E-4	ENSG00000166147	ENST00000316623	D	0.87412	-2.25	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.155020	0.64402	D	0.000019	T	0.74329	0.3702	N	0.16266	0.395	0.80722	D	1	P	0.44090	0.826	B	0.34452	0.183	T	0.76063	-0.3096	10	0.06099	T	0.92	.	18.8343	0.92155	0.0:1.0:0.0:0.0	.	2667	P35555	FBN1_HUMAN	K	2667	ENSP00000325527:E2667K	ENSP00000325527:E2667K	E	-	1	0	FBN1	46495077	1.000000	0.71417	0.988000	0.46212	0.657000	0.38888	4.893000	0.63199	2.745000	0.94114	0.655000	0.94253	GAG		TCGA-3A-A9IB-01A-21D-A397-08	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1	1	0	1	82	242	0	53	1	1	14	376	0	53	2		0	0	0	0	0	2	1	1.000000	81	242	0	52	2		0	0	0	0	0	2	-5.014298	1	1	121412	4	37	1	0	1	1	1.871649	1	0.380000	1.970000	0.317782	0.990000	9.800000e-01	1.000000	1.000000	0.998822	0.990000	1	0.990000	1.000000
NKD1	85407	broad.mit.edu	37	16	50664178	50664178	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:50664178C>T	ENST00000268459.3	+	7	768	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)			23		all_cancers(37;0.229)			CAAGATGCTGCGGGTAAAGCT	0.592000																								0							SO:0001583	missense			ENST00000268459.3	0	1	hg19	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707405	0.48412	0.0	1.16E-4	ENSG00000140807	ENST00000268459	T	0.72505	-0.66	4.88	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86778	0.1977	10	0.87932	D	0	-22.9129	14.0418	0.64681	0.2725:0.7275:0.0:0.0	.	182	Q969G9	NKD1_HUMAN	W	182	ENSP00000268459:R182W	ENSP00000268459:R182W	R	+	1	2	NKD1	49221679	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	3.134000	0.50538	1.151000	0.42436	0.655000	0.94253	CGG		TCGA-3A-A9IB-01A-21D-A397-08	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	1	0	0	29	334	1	63	0	1.429727e-01	0	16	1	63	3		0	0	0	0	0	2	1	0.947125	28	333	1	63	19		0	0	0	0	0	2	-3.142702	1	1	121412	2	35	1	1	2	3	2.248531	1	0.380000	1.970000	0.441542	0.500000	3.200000e-01	1.000000	0.470000	0.601661	0.500000	0	0.400000	1.000000
PMFBP1	83449	broad.mit.edu	37	16	72163043	72163043	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:72163043C>G	ENST00000237353.10	-	13	2133	c.1872G>C	c.(1870-1872)aaG>aaC	p.K624N	PMFBP1_ENST00000537465.1_Missense_Mutation_p.K629N|PMFBP1_ENST00000355636.6_Missense_Mutation_p.K479N	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1			45		Ovarian(137;0.179)			CTTTGCTCTTCTTCAACTGCT	0.468000																								0							SO:0001583	missense			ENST00000237353.10	1	1	hg19	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246930	0.10130	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.13538	2.58;2.59;2.58	4.31	2.09	0.27110	.	0.129090	0.35646	N	0.003070	T	0.09291	0.0229	L	0.29908	0.895	0.23449	N	0.997656	B;P;B	0.39250	0.447;0.665;0.447	B;B;B	0.41088	0.147;0.347;0.147	T	0.19844	-1.0293	10	0.26408	T	0.33	-18.0873	5.1417	0.14963	0.0:0.2541:0.0:0.7459	.	629;624;629	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	N	629;624;479	ENSP00000443817:K629N;ENSP00000237353:K624N;ENSP00000347854:K479N	ENSP00000237353:K624N	K	-	3	2	PMFBP1	70720544	0.996000	0.38824	0.994000	0.49952	0.049000	0.14656	0.330000	0.19715	0.458000	0.26988	-0.302000	0.09304	AAG		TCGA-3A-A9IB-01A-21D-A397-08	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	1	0	1	321	953	0	179		0	0	0	0	179	2		0	0	0	0	0	2	1	1.000000	314	946	0	174	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.232757	1	0.380000	1.970000	0.432806	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
RHOT2	89941	broad.mit.edu	37	16	721954	721954	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:721954G>A	ENST00000315082.4	+	13	1163	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2			13		Hepatocellular(780;0.0218)			CGCACAGTCCGCACAGAGGCC	0.692000																								0							SO:0001583	missense			ENST00000315082.4	0	1	hg19	CCDS10417.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319598	0.41096	.	.	ENSG00000140983	ENST00000315082	T	0.10099	2.91	5.31	2.09	0.27110	EF hand associated, type-1 (1);	0.488085	0.25897	N	0.027587	T	0.10380	0.0254	N	0.22421	0.69	0.20403	N	0.999906	P	0.44006	0.824	P	0.44477	0.451	T	0.10497	-1.0627	10	0.44086	T	0.13	-4.7154	15.1832	0.72975	0.0:0.4165:0.5835:0.0	.	350	Q8IXI1	MIRO2_HUMAN	H	350	ENSP00000321971:R350H	ENSP00000321971:R350H	R	+	2	0	RHOT2	661955	0.971000	0.33674	0.002000	0.10522	0.006000	0.05464	1.740000	0.38228	0.186000	0.20125	0.456000	0.33151	CGC		TCGA-3A-A9IB-01A-21D-A397-08	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1	0	0	0	6	486	0	151	0	5.650552e-01	0	141	0	151	2		0	0	0	0	0	2	1	0.963824	6	480	0	148	2		0	0	0	0	0	2	-2.445671	0	1	120846	11	41	1	1	2	3	2.254564	1	0.380000	1.970000	0.448153	0.080000	2.000000e-02	1.000000	0.080000	0.285007	0.080000	0	0.050000	1.000000
FANCA	2175	broad.mit.edu	37	16	89842201	89842201	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr16:89842201G>C	ENST00000389301.3	-	21	1879	c.1849C>G	c.(1849-1851)Ctg>Gtg	p.L617V	FANCA_ENST00000568369.1_Missense_Mutation_p.L617V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A			47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)			GTGGAGTACAGAGATGGGGGG	0.443000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0							SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000389301.3	1	1	hg19	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255899	0.22965	.	.	ENSG00000187741	ENST00000389301	D	0.85411	-1.98	5.03	-0.755	0.11061	.	0.494987	0.16475	N	0.212816	T	0.77246	0.4102	M	0.71581	2.175	0.09310	N	1	B;B	0.29909	0.261;0.261	B;B	0.20184	0.028;0.016	T	0.67898	-0.5551	10	0.66056	D	0.02	-1.1651	1.6061	0.02684	0.3053:0.1378:0.4164:0.1405	.	617;617	B4DRI7;O15360	.;FANCA_HUMAN	V	617	ENSP00000373952:L617V	ENSP00000373952:L617V	L	-	1	2	FANCA	88369702	0.000000	0.05858	0.008000	0.14137	0.759000	0.43091	-0.464000	0.06688	-0.023000	0.13963	0.650000	0.86243	CTG		TCGA-3A-A9IB-01A-21D-A397-08	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	1	0	0	13	109	0	25	0	2.712908e-01	1	8	0	25	2		0	0	0	0	0	2	1	0.999633	13	109	0	25	2		0	0	0	0	0	2	-3.320514	1	1	0	0		1	1	2	3	2.232757	1	0.380000	1.970000	0.432806	0.690000	3.700000e-01	1.000000	0.610000	0.727917	0.690000	0	0.500000	1.000000
TAOK1	57551	broad.mit.edu	37	17	27869675	27869675	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:27869675G>C	ENST00000261716.3	+	20	3160	c.2641G>C	c.(2641-2643)Gaa>Caa	p.E881Q	TAOK1_ENST00000536202.1_Missense_Mutation_p.E733Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1			28			Colorectal(6;0.198)		TTTTGACTCTGAAAGCATGAG	0.473000																								0							SO:0001583	missense			ENST00000261716.3	1	1	hg19	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650537	0.87958	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.57752	0.38;0.38	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.86178	2.8	0.27873	N	0.939969	D;D	0.89917	0.981;1.0	D;D	0.85130	0.932;0.997	T	0.73304	-0.4025	10	0.72032	D	0.01	.	19.5531	0.95330	0.0:0.0:1.0:0.0	.	733;881	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Q	881;733	ENSP00000261716:E881Q;ENSP00000438819:E733Q	ENSP00000261716:E881Q	E	+	1	0	TAOK1	24893801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.809000	0.99208	2.623000	0.88846	0.561000	0.74099	GAA		TCGA-3A-A9IB-01A-21D-A397-08	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	0	0	1	92	499	0	129	1	5.317937e-01	5	6	0	129	2		0	0	0	0	0	2	1	1.000000	92	493	0	129	2		0	0	0	0	0	2	-20.000000	1	0	0	0		1	1	2	3	2.071362	0	0.380000	1.970000	0.390424	0.830000	6.800000e-01	1.000000	0.830000	0.848375	0.830000	0	0.750000	0.940000
TMEM132E	124842	broad.mit.edu	37	17	32953589	32953589	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:32953589C>T	ENST00000321639.5	+	2	839	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E			57					GCATGCCTTCCGGGATGCCCG	0.711000																								0							SO:0001583	missense			ENST00000321639.5	1	1	hg19	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	18.86	3.713777	0.68730	.	.	ENSG00000181291	ENST00000321639	T	0.13420	2.59	5.17	1.84	0.25277	.	0.120858	0.56097	D	0.000034	T	0.24812	0.0602	L	0.48877	1.53	0.31168	N	0.703569	D	0.89917	1.0	D	0.67548	0.952	T	0.07790	-1.0754	10	0.56958	D	0.05	-14.7201	9.9255	0.41489	0.2791:0.5861:0.1348:0.0	.	171	Q6IEE7	T132E_HUMAN	W	171	ENSP00000316532:R171W	ENSP00000316532:R171W	R	+	1	2	TMEM132E	29977702	0.999000	0.42202	0.993000	0.49108	0.971000	0.66376	0.741000	0.26202	0.545000	0.28902	-0.294000	0.09567	CGG		TCGA-3A-A9IB-01A-21D-A397-08	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	1	0	0	17	75	0	25	0	3.829787e-02	0	2	0	25	2		0	0	0	0	0	2	1	0.999980	16	75	0	25	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.071362	0	0.380000	1.970000	0.390424	0.990000	6.200000e-01	1.000000	1.000000	0.925301	0.990000	1	0.800000	1.000000
CRHR1	1394	broad.mit.edu	37	17	43907805	43907805	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:43907805C>T	ENST00000398285.3	+	8	665	c.665C>T	c.(664-666)gCc>gTc	p.A222V	CRHR1_ENST00000314537.5_Missense_Mutation_p.A193V|CRHR1_ENST00000293493.7_Missense_Mutation_p.A18V|CRHR1_ENST00000339069.5_Missense_Mutation_p.A92V|CRHR1_ENST00000577353.1_Missense_Mutation_p.A193V|CRHR1_ENST00000352855.5_Missense_Mutation_p.A153V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1			24	Colorectal(2;0.0416)				TTGGTGACAGCCGCCTACAAC	0.632000													Ovarian(110;57 1568 10207 38216 49865)											0							SO:0001583	missense			ENST00000398285.3	0	1	hg19	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750172	0.49257	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.39406	1.19;1.08;1.19;1.19;1.19	5.27	5.27	0.74061	GPCR, family 2-like (1);	0.099034	0.64402	D	0.000001	T	0.25938	0.0632	N	0.04297	-0.235	0.50467	D	0.999875	B;B;B;P;B;B	0.42871	0.268;0.201;0.122;0.792;0.268;0.268	B;B;B;P;B;B	0.46419	0.26;0.088;0.082;0.516;0.135;0.192	T	0.06935	-1.0799	10	0.23891	T	0.37	.	9.92	0.41459	0.0:0.9073:0.0:0.0927	.	193;222;92;92;153;193	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	18;92;222;193;193;153	ENSP00000293493:A18V;ENSP00000340522:A92V;ENSP00000381333:A222V;ENSP00000326060:A193V;ENSP00000344068:A153V	ENSP00000293493:A18V	A	+	2	0	CRHR1	41263586	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	6.091000	0.71406	2.462000	0.83206	0.561000	0.74099	GCC		TCGA-3A-A9IB-01A-21D-A397-08	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3	0	0	0	5	364	0	76	0	0	0	1	0	76	2		0	0	0	0	0	2	1	0.937054	6	361	0	75	2		0	0	0	0	0	2	-2.697745	1	1	0	0		1	1	2	3	2.071362	0	0.380000	1.970000	0.390424	0.080000	2.000000e-02	1.000000	0.070000	0.152653	0.080000	0	0.040000	0.140000
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		TCGA-3A-A9IB-01A-21D-A397-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	41	94	0	34	1	9.999921e-01	21	26	0	34	2	1	1	231	668	0	518	2	1	1.000000	40	93	0	34	2		0	0	0	0	0	2	-20.000000	1	1	121412	3	37	1	0	1	1	1.688645	1	0.380000	1.970000	0.238142	0.970000	8.200000e-01	1.000000	1.000000	0.959510	0.970000	1	0.900000	1.000000
ZNF175	7728	broad.mit.edu	37	19	52090881	52090881	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52090881A>G	ENST00000262259.2	+	5	1655	c.1297A>G	c.(1297-1299)Aca>Gca	p.T433A	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175			24		all_neural(266;0.0299)			CCAGAAGTCAACACTCAGCTT	0.473000																								0							SO:0001583	missense			ENST00000262259.2	1	1	hg19	CCDS12837.1	.	.	.	.	.	.	.	.	.	.	A	7.325	0.617711	0.14129	.	.	ENSG00000105497	ENST00000262259	T	0.35421	1.31	2.39	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11537	0.0281	N	0.03238	-0.38	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.30650	-0.9971	9	0.08381	T	0.77	.	3.2726	0.06887	0.3719:0.0:0.4173:0.2107	.	433	Q9Y473	ZN175_HUMAN	A	433	ENSP00000262259:T433A	ENSP00000262259:T433A	T	+	1	0	ZNF175	56782693	0.000000	0.05858	0.677000	0.29947	0.993000	0.82548	-1.388000	0.02533	-0.348000	0.08286	-0.290000	0.09829	ACA		TCGA-3A-A9IB-01A-21D-A397-08	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	1	0	1	44	175	0	26	0	5.045139e-01	0	8	0	26	2		0	0	0	0	0	2	1	1.000000	43	174	0	25	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.052867	0	0.380000	1.970000	0.386988	0.990000	8.000000e-01	1.000000	1.000000	0.975252	0.990000	1	0.930000	1.000000
ZNF528	84436	broad.mit.edu	37	19	52919334	52919334	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:52919334G>C	ENST00000360465.3	+	7	1655	c.1229G>C	c.(1228-1230)gGa>gCa	p.G410A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528			39					AGACCTTATGGATGCAGTCAG	0.403000																								0							SO:0001583	missense			ENST00000360465.3	1	1	hg19	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696068	0.15106	.	.	ENSG00000167555	ENST00000360465	T	0.35048	1.33	2.08	0.998	0.19857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.00637	-1.305	0.09310	N	1	B	0.30709	0.291	B	0.29663	0.105	T	0.17806	-1.0357	9	0.44086	T	0.13	.	3.0495	0.06165	0.5844:0.2488:0.1668:0.0	.	410	Q3MIS6	ZN528_HUMAN	A	410	ENSP00000353652:G410A	ENSP00000353652:G410A	G	+	2	0	ZNF528	57611146	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.943000	0.03917	0.074000	0.16767	-0.302000	0.09304	GGA		TCGA-3A-A9IB-01A-21D-A397-08	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	1	0	1	58	286	0	62	0	2.948477e-02	0	2	0	62	2		0	0	0	0	0	2	1	1.000000	57	283	0	60	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.049780	0	0.380000	1.970000	0.386988	0.900000	7.000000e-01	1.000000	1.000000	0.897071	0.900000	1	0.790000	1.000000
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	4	278	0	42		0	0	0	0	42	2		0	0	0	0	0	2	1	0.888528	4	275	0	39	2		0	0	0	0	0	2	-2.334638	0	1	0	0		1	1	2	3	2.043449	0	0.380000	1.970000	0.385835	0.080000	2.000000e-02	1.000000	0.080000	0.127432	0.080000	0	0.040000	0.140000
AMPD2	271	broad.mit.edu	37	1	110172959	110172959	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:110172959G>A	ENST00000256578.3	+	16	2610	c.2250G>A	c.(2248-2250)ccG>ccA	p.P750P	AMPD2_ENST00000393688.3_Silent_p.P631P|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Silent_p.P632P|AMPD2_ENST00000528667.1_Silent_p.P750P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.P675P|AMPD2_ENST00000342115.4_Silent_p.P669P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2			7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)			ATCCGCTACCGGAGTACCTGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000256578.3	1	1	hg19	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.875|6.875	0.530795|0.530795	0.13127|0.13127	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000369840|ENST00000476688	.|.	.|.	.|.	4.66|4.66	-4.93|-4.93	0.03066|0.03066	.|.	.|.	.|.	.|.	.|.	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38735|0.38735	-0.9647|-0.9647	4|4	.|.	.|.	.|.	-21.0222|-21.0222	0.507|0.507	0.00589|0.00589	0.205:0.284:0.2159:0.2951|0.205:0.284:0.2159:0.2951	.|.	.|.	.|.	.|.	R|Q	721|139	.|.	.|.	G|R	+|+	1|2	0|0	AMPD2|AMPD2	109974482|109974482	0.000000|0.000000	0.05858|0.05858	0.630000|0.630000	0.29268|0.29268	0.705000|0.705000	0.40729|0.40729	-3.213000|-3.213000	0.00555|0.00555	-1.228000|-1.228000	0.02568|0.02568	-2.079000|-2.079000	0.00380|0.00380	GGA|CGG		TCGA-3A-A9IB-01A-21D-A397-08	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1	0	0	0	125	539	0	158	1	1	37	92	0	158	2		0	0	0	0	0	2	1	1.000000	125	539	0	153	2		0	0	0	0	0	2	-2.891062	1	1	0	0		1	0	0	0	1.996625	0	0.380000	1.970000	0.375252	0.970000	8.200000e-01	1.000000	1.000000	0.960572	0.970000	1	0.900000	1.000000
GPR161	23432	broad.mit.edu	37	1	168066276	168066276	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:168066276G>A	ENST00000367838.1	-	5	882	c.569C>T	c.(568-570)gCc>gTc	p.A190V	GPR161_ENST00000537209.1_Missense_Mutation_p.A210V|GPR161_ENST00000367836.1_Missense_Mutation_p.A58V|GPR161_ENST00000539777.1_Missense_Mutation_p.A112V|GPR161_ENST00000361697.2_Missense_Mutation_p.A190V|GPR161_ENST00000367835.1_Missense_Mutation_p.A190V|GPR161_ENST00000271357.5_Missense_Mutation_p.A190V|GPR161_ENST00000546300.1_Missense_Mutation_p.A76V	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161			26	all_hematologic(923;0.215)				CTGCCAGAAGGCCGTGTAGCC	0.592000																								0							SO:0001583	missense			ENST00000367838.1	1	1	hg19	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032295	0.35893	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.07	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.102442	0.64402	N	0.000003	T	0.30665	0.0772	N	0.16098	0.37	0.38353	D	0.944394	B;B;B;B;B;B	0.13145	0.001;0.007;0.006;0.002;0.001;0.001	B;B;B;B;B;B	0.17722	0.003;0.019;0.018;0.006;0.001;0.005	T	0.08146	-1.0736	9	0.30078	T	0.28	-16.4128	12.5826	0.56399	0.0834:0.0:0.9166:0.0	.	210;76;112;210;190;190	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	V	190;190;58;190;76;112;210;190	ENSP00000356812:A190V;ENSP00000271357:A190V;ENSP00000356810:A58V;ENSP00000356809:A190V;ENSP00000444348:A76V;ENSP00000437576:A112V;ENSP00000441039:A210V;ENSP00000355194:A190V	ENSP00000271357:A190V	A	-	2	0	GPR161	166332900	1.000000	0.71417	0.922000	0.36590	0.974000	0.67602	4.756000	0.62205	1.242000	0.43836	0.561000	0.74099	GCC		TCGA-3A-A9IB-01A-21D-A397-08	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	1	0	1	24	114	0	21	1	7.286607e-01	2	12	0	21	2		0	0	0	0	0	2	1	1.000000	24	111	0	21	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	1.989927	0	0.380000	1.970000	0.375252	0.900000	6.100000e-01	1.000000	1.000000	0.885921	0.900000	1	0.750000	1.000000
EPHX1	2052	broad.mit.edu	37	1	226032215	226032215	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr1:226032215G>A	ENST00000366837.4	+	8	1253	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.D353N	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)			28	Breast(184;0.197)				CTCCCTGGACGACCTGCTGAC	0.552000																								0							SO:0001583	missense			ENST00000366837.4	1	1	hg19	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973433	0.92919	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.75704	-0.96;-0.96	5.37	5.37	0.77165	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.88400	0.6426	M	0.90814	3.15	0.80722	D	1	D	0.60160	0.987	P	0.62649	0.905	D	0.90256	0.4297	10	0.72032	D	0.01	-22.9316	19.464	0.94931	0.0:0.0:1.0:0.0	.	353	P07099	HYEP_HUMAN	N	353	ENSP00000272167:D353N;ENSP00000355802:D353N	ENSP00000272167:D353N	D	+	1	0	EPHX1	224098838	1.000000	0.71417	0.800000	0.32199	0.506000	0.33950	7.817000	0.86213	2.686000	0.91538	0.561000	0.74099	GAC		TCGA-3A-A9IB-01A-21D-A397-08	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	1	0	1	53	237	0	56	1	1	95	234	0	56	2		0	0	0	0	0	2	1	1.000000	53	234	0	54	2		0	0	0	0	0	2	-20.000000	1	1	121412	3	35	1	0	0	0	1.989927	0	0.380000	1.970000	0.375252	0.950000	7.300000e-01	1.000000	1.000000	0.930073	0.950000	1	0.830000	1.000000
SLC32A1	140679	broad.mit.edu	37	20	37356232	37356232	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:37356232C>T	ENST00000217420.1	+	2	791	c.528C>T	c.(526-528)gaC>gaT	p.D176D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1			38		Myeloproliferative disorder(115;0.00878)		Glycine(DB00145)	AGAATGAAGACGGCGAGGTGG	0.647000																								0							SO:0001819	synonymous_variant			ENST00000217420.1	1	1	hg19	CCDS13307.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	1	0	1	48	191	0	72		0	0	0	0	72	2		0	0	0	0	0	2	1	1.000000	48	191	0	72	2		0	0	0	0	0	2	-20.000000	1	1	121408	1	31	1	0	2	2	2.053610	1	0.380000	1.970000	0.380000	0.990000	8.000000e-01	1.000000	1.000000	0.972440	0.990000	1	0.920000	1.000000
RBM38	55544	broad.mit.edu	37	20	55966783	55966783	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr20:55966783C>A	ENST00000356208.5	+	1	321	c.146C>A	c.(145-147)tCg>tAg	p.S49*	RBM38_ENST00000440234.2_Nonsense_Mutation_p.S49*|RP4-800J21.3_ENST00000417346.1_RNA|RBM38_ENST00000371219.2_5'Flank	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38			9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		ACCGACGCCTCGCTCAGGAAG	0.677000																								0							SO:0001587	stop_gained			ENST00000356208.5	0	1	hg19	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322144	0.81580	.	.	ENSG00000132819	ENST00000356208;ENST00000440234	.	.	.	3.49	3.49	0.39957	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6071	13.737	0.62824	0.0:1.0:0.0:0.0	.	.	.	.	X	49	.	ENSP00000343718:S49X	S	+	2	0	RBM38	55400189	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	1.488000	0.35551	1.500000	0.48636	0.442000	0.29010	TCG		TCGA-3A-A9IB-01A-21D-A397-08	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	1	0	0	8	32	0	23	0	9.098666e-01	1	19	0	23	2		0	0	0	0	0	2	1	0.991943	8	32	0	22	2		0	0	0	0	0	2	-16.818390	1	1	0	0		1	0	2	2	2.053610	1	0.380000	1.970000	0.380000	0.990000	5.200000e-01	1.000000	1.000000	0.913715	0.990000	1	0.760000	1.000000
ISX	91464	broad.mit.edu	37	22	35463185	35463185	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr22:35463185G>A	ENST00000308700.6	+	1	1057	c.105G>A	c.(103-105)gcG>gcA	p.A35A	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Silent_p.A35A	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox			26					CCATTGAGGCGATCCTAAAGA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000308700.6	0	1	hg19	CCDS33640.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320662.1	1	0	0	18	69	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.999992	19	69	0	8	2		0	0	0	0	0	2	-20.000000	1	1	121394	3	31	1	1	2	3	2.018648	1	0.380000	1.970000	0.411318	0.990000	7.500000e-01	1.000000	1.000000	0.974937	0.990000	1	0.950000	1.000000
BUB1	699	broad.mit.edu	37	2	111425242	111425242	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:111425242C>T	ENST00000302759.6	-	8	779	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	BUB1_ENST00000535254.1_Missense_Mutation_p.V201M|BUB1_ENST00000409311.1_Missense_Mutation_p.V221M	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	p.V221_S227>S(1)		45		Ovarian(717;0.0822)			GATGAGTGCACAGAATATTCT	0.368000																								1	Complex - deletion inframe(1)						SO:0001583	missense			ENST00000302759.6	1	1	hg19	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797928	0.50208	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32272	2.2;1.46;2.46	5.72	0.743	0.18347	.	1.042200	0.07470	N	0.902057	T	0.32496	0.0831	L	0.40543	1.245	0.09310	N	1	P;D;P	0.54047	0.955;0.964;0.874	P;P;B	0.53593	0.73;0.547;0.346	T	0.16571	-1.0398	10	0.32370	T	0.25	0.1037	3.7315	0.08495	0.293:0.4713:0.0:0.2356	.	201;221;221	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	M	201;221;221;221	ENSP00000441013:V201M;ENSP00000386701:V221M;ENSP00000302530:V221M	ENSP00000302530:V221M	V	-	1	0	BUB1	111141713	0.020000	0.18652	0.002000	0.10522	0.926000	0.56050	0.091000	0.15046	-0.140000	0.11394	0.650000	0.86243	GTG		TCGA-3A-A9IB-01A-21D-A397-08	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	1	0	1	68	347	0	70	1	4.520284e-01	3	6	0	70	2		0	0	0	0	0	2	1	1.000000	68	347	0	70	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.037772	0	0.380000	1.970000	0.384676	0.860000	6.800000e-01	1.000000	1.000000	0.872973	0.860000	1	0.770000	0.980000
SCN3A	6328	broad.mit.edu	37	2	165950907	165950907	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:165950907G>C	ENST00000360093.3	-	26	5004	c.4513C>G	c.(4513-4515)Cag>Gag	p.Q1505E	SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q1505E|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q1456E	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit			120				Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGTTTCTGAGGTTTCTTG	0.388000																								0							SO:0001583	missense			ENST00000360093.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	16.64	3.178549	0.57692	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96104	-3.91;-3.91;-3.84	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	D	0.97192	0.9082	H	0.94808	3.585	0.80722	D	1	P;P;B	0.47841	0.901;0.502;0.005	P;B;B	0.45881	0.496;0.118;0.019	D	0.98609	1.0662	10	0.72032	D	0.01	.	18.2045	0.89850	0.0:0.0:1.0:0.0	.	1456;1456;1505	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	E	1505;1505;1456	ENSP00000353206:Q1505E;ENSP00000283254:Q1505E;ENSP00000386726:Q1456E	ENSP00000283254:Q1505E	Q	-	1	0	SCN3A	165659153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.613000	0.88420	0.655000	0.94253	CAG		TCGA-3A-A9IB-01A-21D-A397-08	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	1	147	778	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	1.000000	146	766	0	164	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	1.981250	0	0.380000	1.970000	0.370431	0.810000	7.000000e-01	0.940000	0.820000	0.825914	0.810000	0	0.750000	0.890000
LRP2	4036	broad.mit.edu	37	2	170115538	170115538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:170115538G>A	ENST00000263816.3	-	17	2795	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	LRP2_ENST00000443831.1_Missense_Mutation_p.A700V	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2			315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACTTACCCGGCAAAAGGATG	0.403000																								0							SO:0001583	missense			ENST00000263816.3	0	1	hg19	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098743	0.20552	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.91295	-2.82;-2.82	5.77	3.73	0.42828	Six-bladed beta-propeller, TolB-like (1);	0.770796	0.12440	N	0.468797	D	0.86239	0.5885	M	0.67953	2.075	0.27234	N	0.959321	B;B	0.29552	0.248;0.209	B;B	0.28553	0.091;0.035	T	0.75777	-0.3198	10	0.33141	T	0.24	.	1.5273	0.02528	0.4359:0.0:0.2681:0.296	.	700;837	E9PC35;P98164	.;LRP2_HUMAN	V	837;700	ENSP00000263816:A837V;ENSP00000409813:A700V	ENSP00000263816:A837V	A	-	2	0	LRP2	169823784	0.999000	0.42202	0.452000	0.26994	0.191000	0.23601	3.640000	0.54350	0.669000	0.31146	0.591000	0.81541	GCC		TCGA-3A-A9IB-01A-21D-A397-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	0	0	5	447	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.935277	5	440	0	52	2		0	0	0	0	0	2	-2.141562	0	1	121402	2	32	1	0	0	0	1.981250	0	0.380000	1.970000	0.370431	0.050000	1.000000e-02	0.130000	0.060000	0.068237	0.050000	0	0.030000	0.090000
OSR1	130497	broad.mit.edu	37	2	19552943	19552943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:19552943G>T	ENST00000272223.2	-	2	968	c.624C>A	c.(622-624)tgC>tgA	p.C208*	OSR1_ENST00000536433.1_Nonsense_Mutation_p.C208*	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1			8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)			AGGCTTTGTGGCAGATGTCAC	0.597000																								0							SO:0001587	stop_gained			ENST00000272223.2	0	1	hg19	CCDS1694.1	.	.	.	.	.	.	.	.	.	.	G	39	7.611580	0.98390	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	.	.	.	6.04	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.081	8.9124	0.35561	0.2346:0.0:0.7654:0.0	.	.	.	.	X	208	.	.	C	-	3	2	OSR1	19416424	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.198000	0.32223	0.838000	0.34948	0.650000	0.86243	TGC		TCGA-3A-A9IB-01A-21D-A397-08	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000201432.2	0	0	0	6	336	0	107	0	4.975124e-02	0	17	0	107	2		0	0	0	0	0	2	1	0.963700	6	331	0	107	2		0	0	0	0	0	2	-3.368486	1	1	0	0		1	1	2	3	2.037772	0	0.380000	1.970000	0.384676	0.090000	3.000000e-02	1.000000	0.100000	0.133105	0.090000	0	0.060000	0.150000
PTPRN	5798	broad.mit.edu	37	2	220162054	220162054	+	Silent	SNP	G	G	A	rs17847405	byFrequency	TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:220162054G>A	ENST00000295718.2	-	14	2229	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D	PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.D573D|PTPRN_ENST00000409251.3_Silent_p.D634D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N			65		Renal(207;0.0474)			CCTGGGCTGCGTCGCTGAACT	0.652000																								0							SO:0001819	synonymous_variant			ENST00000295718.2	1	0	hg19	CCDS2440.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2	0	0	1	72	336	0	120	0	4.932440e-01	0	9	0	120	2		0	0	0	0	0	2	1	1.000000	72	333	0	118	2		0	0	0	0	0	2	-2.124767	0	1	121412	4133	69	1	0	1	1	2.010617	0	0.380000	1.970000	0.378820	0.920000	7.400000e-01	1.000000	1.000000	0.916653	0.920000	1	0.820000	1.000000
LTBP1	4052	broad.mit.edu	37	2	33487847	33487847	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:33487847C>T	ENST00000404816.2	+	14	2830	c.2477C>T	c.(2476-2478)tCt>tTt	p.S826F	LTBP1_ENST00000407925.1_Missense_Mutation_p.S500F|LTBP1_ENST00000390003.4_Missense_Mutation_p.S500F|LTBP1_ENST00000404525.1_Missense_Mutation_p.S447F|LTBP1_ENST00000402934.1_Missense_Mutation_p.S447F|LTBP1_ENST00000354476.3_Missense_Mutation_p.S826F|LTBP1_ENST00000418533.2_Missense_Mutation_p.S500F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1			108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)			CCCCAGCTGTCTCCAGGCATT	0.398000																								0							SO:0001583	missense			ENST00000404816.2	0	1	hg19	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372043	0.82573	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	D;T;T;T;T;T;T;T;T	0.81659	-1.52;-1.48;-1.42;-1.39;-1.4;-1.39;-1.4;1.66;0.2	5.29	5.29	0.74685	.	.	.	.	.	D	0.87030	0.6076	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.995;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.999;0.947;0.999;0.999;0.999	D	0.85468	0.1171	9	0.35671	T	0.21	.	18.0174	0.89246	0.0:1.0:0.0:0.0	.	826;500;447;500;500;826	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	826;826;500;500;447;447;500;154;143	ENSP00000386043:S826F;ENSP00000346467:S826F;ENSP00000374653:S500F;ENSP00000393057:S500F;ENSP00000384373:S447F;ENSP00000385359:S447F;ENSP00000384091:S500F;ENSP00000415412:S154F;ENSP00000417591:S143F	ENSP00000346467:S826F	S	+	2	0	LTBP1	33341351	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.160000	0.71862	2.490000	0.84030	0.650000	0.86243	TCT		TCGA-3A-A9IB-01A-21D-A397-08	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	1	0	1	23	164	0	18	1	9.999971e-01	20	137	0	18	2		0	0	0	0	0	2	1	1.000000	23	163	0	18	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.037772	0	0.380000	1.970000	0.384676	0.660000	4.300000e-01	1.000000	0.650000	0.676794	0.660000	0	0.530000	0.810000
GPAT2	150763	broad.mit.edu	37	2	96690527	96690527	+	Silent	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:96690527A>G	ENST00000434632.1	-	15	1881	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	GPAT2_ENST00000453542.1_Silent_p.H403H|GPAT2_ENST00000359548.4_Silent_p.H474H|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Silent_p.H474H			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial			16					CTACCTTCTGATGCTTGAAGA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000434632.1	1	1	hg19	CCDS42714.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	0	0	0	25	677	0	163	0	6.138825e-02	0	11	0	163	2		0	0	0	0	0	2	1	1.000000	23	663	0	157	2		0	0	0	0	0	2	-19.995140	1	1	0	0		1	1	2	3	2.037772	0	0.380000	1.970000	0.384676	0.180000	1.200000e-01	1.000000	0.190000	0.218568	0.180000	0	0.150000	0.240000
CNGA3	1261	broad.mit.edu	37	2	99012788	99012788	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr2:99012788C>G	ENST00000272602.2	+	7	1194	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNGA3_ENST00000393504.1_Missense_Mutation_p.F385L|CNGA3_ENST00000409937.1_Missense_Mutation_p.F389L|CNGA3_ENST00000436404.2_Missense_Mutation_p.F367L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3			49					TCGTAGACTTCTTGGTGGGTG	0.498000																								0							SO:0001583	missense			ENST00000272602.2	1	1	hg19	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.727449	0.30593	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.05	5.05	0.67936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.73598	2.24	0.58432	D	0.999997	B;B;B	0.31752	0.091;0.338;0.203	B;B;B	0.38194	0.147;0.267;0.255	D	0.94382	0.7605	10	0.32370	T	0.25	.	7.4961	0.27490	0.0:0.8252:0.0:0.1748	.	389;367;385	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	L	385;367;385;389	ENSP00000377140:F385L;ENSP00000410070:F367L;ENSP00000272602:F385L;ENSP00000386761:F389L	ENSP00000272602:F385L	F	+	3	2	CNGA3	98379220	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.525000	0.22956	2.620000	0.88729	0.563000	0.77884	TTC		TCGA-3A-A9IB-01A-21D-A397-08	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	1	0	1	72	234	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	1.000000	71	231	0	40	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.037772	0	0.380000	1.970000	0.384676	0.990000	9.900000e-01	1.000000	1.000000	0.999159	0.990000	1	0.990000	1.000000
FBXO40	51725	broad.mit.edu	37	3	121341863	121341863	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:121341863G>A	ENST00000338040.4	+	3	2001	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40			46					GTCCCCCAGGGCAAAAGGCAA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000338040.4	0	1	hg19	CCDS33835.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	0	0	0	5	273	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	0.936305	5	270	0	37	2		0	0	0	0	0	2	-2.988766	1	1	0	0		1	1	2	3	2.443204	1	0.380000	1.970000	0.478992	0.120000	4.000000e-02	0.250000	0.120000	0.133683	0.120000	0	0.070000	0.190000
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1		PLXND1/TMCC1(4)	25					CTGCTGCTGCTGCAGCTCCAT	0.572000																								0							SO:0001583	missense			ENST00000393238.3	0	1	hg19	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		TCGA-3A-A9IB-01A-21D-A397-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	0	5	413	0	54	0	2.343875e-01	0	64	0	54	2		0	0	0	0	0	2	1	0.942391	4	426	0	56	2		0	0	0	0	0	2	-2.081405	0	1	0	0		1	1	2	3	2.443204	1	0.380000	1.970000	0.478992	0.070000	1.000000e-02	0.170000	0.080000	0.089162	0.070000	0	0.040000	0.120000
ACAP2	23527	broad.mit.edu	37	3	195027329	195027329	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:195027329C>T	ENST00000326793.6	-	13	1257	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2			27					TCGGAATCTGCCTGGAGCATG	0.403000																								0							SO:0001583	missense			ENST00000326793.6	1	1	hg19	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.136760|5.136760	0.94517|0.94517	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000326793|ENST00000439758	T|.	0.78126|.	-1.15|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84552|0.84552	0.5497|0.5497	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86482|0.86482	0.1792|0.1792	10|5	0.87932|.	D|.	0|.	.|.	18.7846|18.7846	0.91949|0.91949	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	343|.	Q15057|.	ACAP2_HUMAN|.	T|D	343|217	ENSP00000324287:A343T|.	ENSP00000324287:A343T|.	A|G	-|-	1|2	0|0	ACAP2|ACAP2	196508618|196508618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.818000|7.818000	0.86416|0.86416	2.662000|2.662000	0.90505|0.90505	0.609000|0.609000	0.83330|0.83330	GCA|GGC		TCGA-3A-A9IB-01A-21D-A397-08	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	1	0	0	48	486	0	63	1	4.663170e-01	2	15	0	63	2		0	0	0	0	0	2	1	1.000000	48	485	0	63	2		0	0	0	0	0	2	-13.516650	1	1	0	0		1	1	2	3	2.443204	1	0.380000	1.970000	0.478992	0.560000	4.200000e-01	0.720000	0.570000	0.571402	0.560000	0	0.480000	0.650000
LRCH3	84859	broad.mit.edu	37	3	197562598	197562598	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr3:197562598G>C	ENST00000425562.2	+	9	1156	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000334859.4_Missense_Mutation_p.E386Q|LRCH3_ENST00000438796.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000414675.2_Missense_Mutation_p.E386Q|LRCH3_ENST00000441090.2_Missense_Mutation_p.E260Q			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3			29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)		CGCAGAGGAAGAGGAGGCCGA	0.502000																								0							SO:0001583	missense			ENST00000425562.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	24.0	4.481581	0.84747	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.38401	1.89;1.14;1.91;2.14;1.91	5.27	5.27	0.74061	.	0.057940	0.64402	D	0.000004	T	0.40222	0.1108	L	0.34521	1.04	0.80722	D	1	D;D;P;B	0.60160	0.987;0.958;0.817;0.27	P;P;P;B	0.52424	0.698;0.697;0.686;0.398	T	0.04621	-1.0938	10	0.16420	T	0.52	-10.8516	19.2996	0.94138	0.0:0.0:1.0:0.0	.	260;386;386;386	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	Q	386;260;386;386;386	ENSP00000399751:E386Q;ENSP00000394609:E260Q;ENSP00000394965:E386Q;ENSP00000334375:E386Q;ENSP00000393579:E386Q	ENSP00000334375:E386Q	E	+	1	0	LRCH3	199046995	1.000000	0.71417	0.957000	0.39632	0.888000	0.51559	8.533000	0.90617	2.642000	0.89623	0.644000	0.83932	GAG		TCGA-3A-A9IB-01A-21D-A397-08	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	1	0	0	37	402	0	58	1	8.759212e-01	3	39	0	58	2		0	0	0	0	0	2	1	1.000000	35	399	0	57	2		0	0	0	0	0	2	-3.017764	1	1	0	0		1	1	2	3	2.436954	1	0.380000	1.970000	0.478158	0.520000	3.700000e-01	0.710000	0.530000	0.537485	0.520000	0	0.440000	0.620000
CCDC149	91050	broad.mit.edu	37	4	24839847	24839847	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:24839847G>A	ENST00000389609.4	-	6	563	c.420C>T	c.(418-420)atC>atT	p.I140I	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Silent_p.I140I	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149			7		Breast(46;0.173)			GTCGCACGCCGATTGCTTCGT	0.483000																								0							SO:0001819	synonymous_variant			ENST00000389609.4	0	1	hg19	CCDS33967.2																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360157.1	0	0	0	5	472	0	92	0	3.120933e-02	0	21	0	92	2		0	0	0	0	0	2	0	0.004322	5	465	1	88	18		0	0	0	0	0	2	-2.237863	0	1	121412	6	42	1	0	1	1	1.760189	1	0.380000	1.970000	0.238142	0.040000	1.000000e-02	0.100000	0.050000	0.053294	0.040000	0	0.020000	0.070000
CHRNA9	55584	broad.mit.edu	37	4	40351405	40351405	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:40351405C>T	ENST00000310169.2	+	4	1011	c.872C>T	c.(871-873)cCg>cTg	p.P291L		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)			33				Galantamine(DB00674)|Nicotine(DB00184)	GAAATCATGCCGGCCTCAGAA	0.512000													Esophageal Squamous(115;1297 1602 22235 25158 43327)											0							SO:0001583	missense			ENST00000310169.2	0	1	hg19	CCDS3459.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355172	0.82243	.	.	ENSG00000174343	ENST00000310169	D	0.99382	-5.8	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.99722	0.9892	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97219	0.9876	10	0.87932	D	0	.	19.6143	0.95626	0.0:1.0:0.0:0.0	.	291	Q9UGM1	ACHA9_HUMAN	L	291	ENSP00000312663:P291L	ENSP00000312663:P291L	P	+	2	0	CHRNA9	40046162	1.000000	0.71417	0.979000	0.43373	0.662000	0.39071	7.818000	0.86416	2.640000	0.89533	0.561000	0.74099	CCG		TCGA-3A-A9IB-01A-21D-A397-08	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1	0	0	0	5	436	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	0.937128	6	433	0	67	2		0	0	0	0	0	2	-2.456322	0	1	121398	1	36	1	0	1	1	1.725719	1	0.380000	1.970000	0.234568	0.040000	1.000000e-02	0.110000	0.050000	0.057306	0.040000	0	0.020000	0.080000
UBA6	55236	broad.mit.edu	37	4	68501258	68501258	+	Silent	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr4:68501258T>C	ENST00000322244.5	-	20	1814	c.1755A>G	c.(1753-1755)ctA>ctG	p.L585L		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6			44					AAAGAGGCCTTAGATTTGCTA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000322244.5	0	1	hg19	CCDS3516.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	0	0	0	4	327	0	87	0	1.280853e-01	0	40	0	87	2		0	0	0	0	0	2	1	0.890272	4	326	0	86	2		0	0	0	0	0	2	-5.101528	1	0	0	0		1	1	2	3	2.063709	0	0.380000	1.970000	0.411318	0.080000	2.000000e-02	1.000000	0.070000	0.260391	0.080000	0	0.040000	1.000000
PCDHB7	56129	broad.mit.edu	37	5	140554443	140554443	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:140554443C>T	ENST00000231137.3	+	1	2201	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7			119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CTCCCGGAGGCGGCCCCGGAC	0.692000																								0							SO:0001583	missense			ENST00000231137.3	1	1	hg19	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	4.037	0.004475	0.07866	.	.	ENSG00000113212	ENST00000231137	T	0.51817	0.69	3.77	-3.6	0.04570	.	.	.	.	.	T	0.17704	0.0425	N	0.10707	0.03	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.31641	-0.9936	9	0.02654	T	1	.	4.7814	0.13204	0.0:0.2545:0.3902:0.3553	.	676	Q9Y5E2	PCDB7_HUMAN	V	676	ENSP00000231137:A676V	ENSP00000231137:A676V	A	+	2	0	PCDHB7	140534627	0.000000	0.05858	0.077000	0.20336	0.306000	0.27790	-0.419000	0.07071	-0.428000	0.07339	0.449000	0.29647	GCG		TCGA-3A-A9IB-01A-21D-A397-08	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	1	0	1	72	566	0	259	1	1.436596e-01	2	4	0	259	2		0	0	0	0	2	2	1	1.000000	72	562	0	252	2		0	0	0	0	0	2	-3.318794	1	1	0	0		1	1	2	3	2.051129	0	0.380000	1.970000	0.386988	0.600000	4.700000e-01	1.000000	0.600000	0.624188	0.600000	0	0.530000	0.690000
GEMIN5	25929	broad.mit.edu	37	5	154292538	154292538	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:154292538G>A	ENST00000285873.7	-	14	1991	c.1916C>T	c.(1915-1917)aCg>aTg	p.T639M		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5			38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		AATCTTGGCCGTATGCCCTGA	0.522000																								0							SO:0001583	missense			ENST00000285873.7	0	1	hg19	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766113	0.69878	.	.	ENSG00000082516	ENST00000285873	T	0.65549	-0.16	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80742	0.4681	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82647	-0.0354	10	0.87932	D	0	-17.564	19.0919	0.93229	0.0:0.0:1.0:0.0	.	638;639	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	M	639	ENSP00000285873:T639M	ENSP00000285873:T639M	T	-	2	0	GEMIN5	154272731	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	8.881000	0.92415	2.667000	0.90743	0.561000	0.74099	ACG		TCGA-3A-A9IB-01A-21D-A397-08	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1	0	0	0	5	307	0	55	0	5.492174e-02	0	19	0	55	2		0	0	0	0	0	2	1	0.935895	5	303	0	54	2		0	0	0	0	0	2	-2.742634	1	1	121412	5	34	1	1	2	3	2.051129	0	0.380000	1.970000	0.386988	0.090000	3.000000e-02	1.000000	0.080000	0.143414	0.090000	0	0.050000	0.150000
DOCK2	1794	broad.mit.edu	37	5	169446049	169446049	+	Silent	SNP	C	C	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:169446049C>A	ENST00000256935.8	+	33	3398	c.3318C>A	c.(3316-3318)gcC>gcA	p.A1106A	DOCK2_ENST00000520908.1_Silent_p.A598A|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.A167A	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2			160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TCCGGAAAGCCACCATACCAA	0.453000																								0							SO:0001819	synonymous_variant			ENST00000256935.8	1	1	hg19	CCDS4371.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	1	0	1	148	750	0	113	0	7.667690e-01	0	16	0	113	2		0	0	0	0	0	2	1	1.000000	148	746	0	108	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.051129	0	0.380000	1.970000	0.386988	0.870000	7.400000e-01	1.000000	0.880000	0.884334	0.870000	1	0.810000	0.960000
CDHR2	54825	broad.mit.edu	37	5	176003158	176003158	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr5:176003158T>A	ENST00000510636.1	+	12	1440	c.1166T>A	c.(1165-1167)cTc>cAc	p.L389H	CDHR2_ENST00000506348.1_Missense_Mutation_p.L389H|CDHR2_ENST00000261944.5_Missense_Mutation_p.L389H	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2			56					ATCGATGACCTCACCATGGTG	0.667000																								0							SO:0001583	missense			ENST00000510636.1	1	1	hg19	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.792906	0.70452	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.63255	-0.03;-0.03;-0.03	4.54	4.54	0.55810	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.79879	0.4522	M	0.91972	3.26	0.53688	D	0.999978	D	0.67145	0.996	P	0.60345	0.873	D	0.84655	0.0703	9	0.87932	D	0	-24.7678	12.2853	0.54789	0.0:0.0:0.0:1.0	.	389	Q9BYE9	CDHR2_HUMAN	H	389	ENSP00000424565:L389H;ENSP00000261944:L389H;ENSP00000421078:L389H	ENSP00000261944:L389H	L	+	2	0	CDHR2	175935764	1.000000	0.71417	0.971000	0.41717	0.555000	0.35460	4.560000	0.60802	1.910000	0.55303	0.448000	0.29417	CTC		TCGA-3A-A9IB-01A-21D-A397-08	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	1	0	1	39	218	0	65	1	1	83	88	0	65	2		0	0	0	0	0	2	1	1.000000	37	215	0	65	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.051129	0	0.380000	1.970000	0.386988	0.810000	5.900000e-01	1.000000	1.000000	0.821819	0.810000	0	0.690000	0.960000
AKAP12	9590	broad.mit.edu	37	6	151671524	151671524	+	Silent	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:151671524G>A	ENST00000253332.1	+	3	2187	c.1998G>A	c.(1996-1998)ccG>ccA	p.P666P	AKAP12_ENST00000402676.2_Silent_p.P666P|AKAP12_ENST00000359755.5_Silent_p.P561P|AKAP12_ENST00000354675.6_Silent_p.P568P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12			68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)		AGCCAAAGCCGGAAGAACCAA	0.493000													Melanoma(141;1616 1805 10049 24534 51979)											0							SO:0001819	synonymous_variant			ENST00000253332.1	0	1	hg19	CCDS5229.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	0	0	0	4	223	0	46	0	4.490937e-01	0	73	0	46	2		0	0	0	0	0	2	1	0.889062	4	221	0	46	2		0	0	0	0	0	2	-2.965700	1	1	121412	4	37	1	0	1	1	1.896966	1	0.380000	1.970000	0.339864	0.090000	2.000000e-02	0.210000	0.090000	0.107006	0.090000	0	0.050000	0.150000
FNDC1	84624	broad.mit.edu	37	6	159646578	159646578	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:159646578T>C	ENST00000297267.9	+	8	1096	c.896T>C	c.(895-897)gTg>gCg	p.V299A	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.V299A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1			93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)			CAGTACACCGTGCGCTATCGA	0.463000																								0							SO:0001583	missense			ENST00000297267.9	1	1	hg19	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101834	0.76983	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.68624	-0.34;-0.34	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81083	0.4749	M	0.86028	2.79	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.84681	0.0717	10	0.87932	D	0	-20.4318	16.2108	0.82158	0.0:0.0:0.0:1.0	.	299;299	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	A	299	ENSP00000297267:V299A;ENSP00000342460:V299A	ENSP00000297267:V299A	V	+	2	0	FNDC1	159566566	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.603000	0.82811	2.232000	0.73038	0.533000	0.62120	GTG		TCGA-3A-A9IB-01A-21D-A397-08	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	1	0	1	139	493	0	148	0	1	0	109	0	148	2		0	0	0	0	0	2	1	1.000000	138	490	0	148	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.896966	1	0.380000	1.970000	0.339864	0.990000	9.200000e-01	1.000000	1.000000	0.994605	0.990000	1	0.990000	1.000000
NUP153	9972	broad.mit.edu	37	6	17669530	17669530	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:17669530C>T	ENST00000262077.2	-	7	1007	c.1008G>A	c.(1006-1008)ctG>ctA	p.L336L	NUP153_ENST00000537253.1_Silent_p.L336L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa			53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)		TTACAGAATTCAGAGGAGAAG	0.328000																								0							SO:0001819	synonymous_variant			ENST00000262077.2	1	1	hg19	CCDS4541.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1	1	0	1	85	361	0	74	1	9.274229e-01	3	18	0	74	2		0	0	0	0	0	2	1	1.000000	84	354	0	73	2		0	0	0	0	0	2	-3.393051	1	1	0	0		1	0	0	0	1.948105	0	0.380000	1.970000	0.358045	0.960000	7.800000e-01	1.000000	1.000000	0.946405	0.960000	1	0.870000	1.000000
TAP1	6890	broad.mit.edu	37	6	32818230	32818230	+	Missense_Mutation	SNP	G	G	A	rs147332077		TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:32818230G>A	ENST00000354258.4	-	5	1456	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Missense_Mutation_p.S171L	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)			21				Lapatinib(DB01259)	AGGCATGGCCGACAGAGCCTC	0.532000																								0							SO:0001583	missense			ENST00000354258.4	0	1	hg19	CCDS4758.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	35	5.420836	0.96111	0.001362	0.0	ENSG00000168394	ENST00000354258;ENST00000425148	D;D	0.91068	-2.78;-2.78	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.38436	N	0.001686	D	0.92734	0.7690	M	0.79805	2.47	0.80722	D	1	P	0.52842	0.956	P	0.52189	0.692	D	0.93356	0.6722	10	0.72032	D	0.01	-5.2332	17.381	0.87405	0.0:0.0:1.0:0.0	.	432	Q03518	TAP1_HUMAN	L	432;171	ENSP00000346206:S432L;ENSP00000401919:S171L	ENSP00000346206:S432L	S	-	2	0	TAP1	32926208	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	5.503000	0.66962	2.706000	0.92434	0.643000	0.83706	TCG		TCGA-3A-A9IB-01A-21D-A397-08	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	0	0	0	4	207	0	39	0	9.810162e-01	0	412	0	39	2		0	0	0	0	0	2	1	0.891188	4	207	0	38	2		0	0	0	0	0	2	-3.333864	1	1	121412	14	42	1	0	0	0	1.948105	0	0.380000	1.970000	0.358045	0.100000	3.000000e-02	0.230000	0.100000	0.118308	0.100000	0	0.060000	0.170000
DDX43	55510	broad.mit.edu	37	6	74115486	74115486	+	Silent	SNP	C	C	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:74115486C>T	ENST00000370336.4	+	6	893	c.735C>T	c.(733-735)gaC>gaT	p.D245D	DDX43_ENST00000539829.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43			24					CATTTGATGACGCCTTTCAAT	0.353000																								0							SO:0001819	synonymous_variant			ENST00000370336.4	1	1	hg19	CCDS4977.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	1	0	0	43	181	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	1.000000	43	179	0	34	2		0	0	0	0	0	2	-20.000000	1	1	121412	1	35	1	0	0	0	1.948105	0	0.380000	1.970000	0.358045	0.970000	7.200000e-01	1.000000	1.000000	0.937276	0.970000	1	0.840000	1.000000
TTK	7272	broad.mit.edu	37	6	80720617	80720617	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr6:80720617A>T	ENST00000369798.2	+	5	667	c.556A>T	c.(556-558)Aat>Tat	p.N186Y	TTK_ENST00000509894.1_Missense_Mutation_p.N186Y|TTK_ENST00000230510.3_Missense_Mutation_p.N186Y	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase			53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)			TGCCCTGCGGAATTTAAACCT	0.363000																								0							SO:0001583	missense			ENST00000369798.2	1	1	hg19	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415177	0.83449	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.89123	-2.47;-2.47;-2.47	4.95	4.95	0.65309	.	0.090404	0.85682	D	0.000000	D	0.92061	0.7484	M	0.68952	2.095	0.50171	D	0.999852	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	D	0.93268	0.6649	10	0.87932	D	0	.	14.0796	0.64912	1.0:0.0:0.0:0.0	.	186;186	P33981;A8K8U5	TTK_HUMAN;.	Y	186	ENSP00000422936:N186Y;ENSP00000230510:N186Y;ENSP00000358813:N186Y	ENSP00000230510:N186Y	N	+	1	0	TTK	80777336	1.000000	0.71417	0.899000	0.35326	0.986000	0.74619	8.060000	0.89464	1.982000	0.57802	0.459000	0.35465	AAT		TCGA-3A-A9IB-01A-21D-A397-08	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	1	0	1	60	427	0	90	1	3.118787e-01	3	6	0	90	2		0	0	0	0	0	2	1	1.000000	60	425	0	90	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	0	0	1.948105	0	0.380000	1.970000	0.358045	0.620000	4.800000e-01	0.780000	0.620000	0.631765	0.620000	0	0.550000	0.700000
DLD	1738	broad.mit.edu	37	7	107546792	107546792	+	Silent	SNP	A	A	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:107546792A>C	ENST00000205402.5	+	8	944	c.663A>C	c.(661-663)gcA>gcC	p.A221A	DLD_ENST00000537148.1_Silent_p.A122A|DLD_ENST00000440410.1_Silent_p.A198A|DLD_ENST00000437604.2_Silent_p.A173A	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase			20				Flavin adenine dinucleotide(DB03147)	TTATTGGTGCAGGAGTAATAG	0.348000																								0							SO:0001819	synonymous_variant			ENST00000205402.5	1	1	hg19	CCDS5749.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	1	0	1	11	161	0	36	1	9.928027e-01	18	109	0	36	2		0	0	0	0	0	2	1	0.998403	11	159	0	35	2		0	0	0	0	0	2	-5.165075	1	1	0	0		1	1	2	3	2.067162	0	0.380000	1.970000	0.389283	0.360000	1.800000e-01	1.000000	0.330000	0.405996	0.360000	0	0.260000	0.500000
FOXP2	93986	broad.mit.edu	37	7	114303542	114303542	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:114303542G>T	ENST00000393494.2	+	15	2086	c.1807G>T	c.(1807-1809)Ggc>Tgc	p.G603C	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393498.2_Missense_Mutation_p.G582C|FOXP2_ENST00000350908.4_Missense_Mutation_p.G603C|FOXP2_ENST00000393491.3_Missense_Mutation_p.G418C|FOXP2_ENST00000403559.4_Missense_Mutation_p.G620C|FOXP2_ENST00000408937.3_Missense_Mutation_p.G628C|FOXP2_ENST00000393489.3_Missense_Mutation_p.G511C			O15409	FOXP2_HUMAN	forkhead box P2			52					TACCAGTTTAGGCTATGGAGC	0.303000																								0							SO:0001583	missense			ENST00000393494.2	0	1	hg19	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853517	0.51270	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.92099	-2.71;-2.7;-2.71;-2.71;-2.79;-2.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.95001	0.8382	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.959;0.996;0.998	D	0.95345	0.8441	10	0.72032	D	0.01	.	19.0298	0.92952	0.0:0.0:1.0:0.0	.	602;620;418;603;628	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	C	603;628;620;603;580;511;418	ENSP00000377132:G603C;ENSP00000386200:G628C;ENSP00000385069:G620C;ENSP00000265436:G603C;ENSP00000377129:G511C;ENSP00000377130:G418C	ENSP00000265436:G603C	G	+	1	0	FOXP2	114090778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.486000	0.83907	0.650000	0.86243	GGC		TCGA-3A-A9IB-01A-21D-A397-08	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	0	0	0	6	397	0	57	0	0	0	1	0	57	2		0	0	0	0	0	2	1	0.964709	6	395	0	55	2		0	0	0	0	0	2	-2.629297	1	1	0	0		1	1	2	3	2.067162	0	0.380000	1.970000	0.389283	0.080000	2.000000e-02	1.000000	0.080000	0.150415	0.080000	0	0.050000	0.140000
ZNF789	285989	broad.mit.edu	37	7	99084376	99084376	+	Silent	SNP	C	C	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr7:99084376C>G	ENST00000331410.5	+	5	813	c.543C>G	c.(541-543)ccC>ccG	p.P181P	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789			11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)				ATGGCAAACCCTTCAATCAAA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000331410.5	1	1	hg19	CCDS34693.1																																																																																				TCGA-3A-A9IB-01A-21D-A397-08	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	0	0	0	11	454	0	71	0	3.867456e-02	0	12	0	71	2		0	0	0	0	0	2	1	0.998228	10	448	0	69	2		0	0	0	0	0	2	-2.669539	1	1	0	0		1	1	2	3	2.053263	0	0.380000	1.970000	0.386988	0.130000	6.000000e-02	1.000000	0.120000	0.176878	0.130000	0	0.090000	0.180000
GRHL2	79977	broad.mit.edu	37	8	102585988	102585988	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:102585988A>G	ENST00000251808.3	+	6	1165	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y260C	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)			28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		GGACAGTTCTATGCCATAACA	0.507000																								0							SO:0001583	missense			ENST00000251808.3	1	1	hg19	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501570	0.85176	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.38401	1.14;1.14	5.7	5.7	0.88788	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78107	-0.2333	10	0.87932	D	0	-14.6055	15.9541	0.79871	1.0:0.0:0.0:0.0	.	276;276	B4DL28;Q6ISB3	.;GRHL2_HUMAN	C	276;260;276	ENSP00000251808:Y276C;ENSP00000379260:Y260C	ENSP00000251808:Y276C	Y	+	2	0	GRHL2	102655164	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.307000	0.96226	2.167000	0.68274	0.528000	0.53228	TAT		TCGA-3A-A9IB-01A-21D-A397-08	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	1	133	148	0	45	1	1	42	2	0	45	2		0	0	0	0	0	2	1	1.000000	132	145	0	43	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	3	3	2.429079	1	0.380000	1.970000	0.478992	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
BHLHE22	27319	broad.mit.edu	37	8	65493724	65493724	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr8:65493724G>C	ENST00000321870.1	+	1	911	c.377G>C	c.(376-378)tGc>tCc	p.C126S	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22			5					GCCGCCCTTTGCCTCAAGTAC	0.746000													Colon(113;104 1586 2865 9855 18065)											0							SO:0001583	missense			ENST00000321870.1	0	1	hg19	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029659	0.54790	.	.	ENSG00000180828	ENST00000321870	D	0.98747	-5.11	3.19	3.19	0.36642	.	0.153691	0.43747	U	0.000527	D	0.98065	0.9362	L	0.29908	0.895	0.50039	D	0.999844	D	0.71674	0.998	D	0.73708	0.981	D	0.98433	1.0583	10	0.59425	D	0.04	.	14.4812	0.67585	0.0:0.0:1.0:0.0	.	126	Q8NFJ8	BHE22_HUMAN	S	126	ENSP00000318799:C126S	ENSP00000318799:C126S	C	+	2	0	BHLHE22	65656278	1.000000	0.71417	0.998000	0.56505	0.712000	0.41017	5.668000	0.68074	1.787000	0.52448	0.455000	0.32223	TGC		TCGA-3A-A9IB-01A-21D-A397-08	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	0	0	0	3	42	0	10	0	0	0	1	0	10	2		0	0	0	0	0	2	1	0.812618	3	42	0	10	2		0	0	0	0	0	2	-7.854897	1	1	0	0		1	0	3	3	2.422574	1	0.380000	1.970000	0.478992	0.470000	1.400000e-01	1.000000	1.000000	0.513552	0.470000	0	0.270000	0.750000
DOCK8	81704	broad.mit.edu	37	9	376273	376273	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chr9:376273G>C	ENST00000453981.1	+	19	2285	c.2173G>C	c.(2173-2175)Gaa>Caa	p.E725Q	DOCK8_ENST00000432829.2_Missense_Mutation_p.E657Q|DOCK8_ENST00000382331.1_Missense_Mutation_p.E27Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E192Q|DOCK8_ENST00000469391.1_Missense_Mutation_p.E657Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8			65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)			ATTTAATATTGAAGTGCAAGC	0.408000																								0							SO:0001583	missense			ENST00000453981.1	0	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176915	0.78564	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.56769	1.78	0.80722	D	1	D;B;P;B	0.76494	0.999;0.255;0.534;0.361	D;B;B;B	0.66847	0.947;0.314;0.369;0.393	T	0.58059	-0.7703	10	0.27785	T	0.31	.	19.8078	0.96537	0.0:0.0:1.0:0.0	.	27;657;192;725	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	Q	725;725;657;657;27;192	ENSP00000408464:E725Q;ENSP00000394888:E657Q;ENSP00000419438:E657Q;ENSP00000371768:E27Q;ENSP00000371766:E192Q	ENSP00000287364:E725Q	E	+	1	0	DOCK8	366273	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.675000	0.98638	2.661000	0.90470	0.650000	0.86243	GAA		TCGA-3A-A9IB-01A-21D-A397-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	0	0	5	405	0	65	0	4.837524e-03	0	7	0	65	2		0	0	0	0	0	2	1	0.935876	5	400	0	64	2		0	0	0	0	0	2	-2.624229	1	1	0	0		1	0	1	1	1.677924	1	0.380000	1.970000	0.243441	0.050000	1.000000e-02	0.120000	0.050000	0.062334	0.050000	0	0.030000	0.090000
RPS6KA6	27330	broad.mit.edu	37	X	83319323	83319323	+	Nonsense_Mutation	SNP	G	G	A			TCGA-3A-A9IB-01A-21D-A397-08	TCGA-3A-A9IB-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d01d1e0-82fd-4a98-a3ba-da1df31dafc6	45996250-51de-4620-9821-7944ed970774	g.chrX:83319323G>A	ENST00000262752.2	-	22	2207	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	RPS6KA6_ENST00000543399.1_Nonsense_Mutation_p.R734*	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6			46					ATGCTCCGTCGCTGGGCTAAG	0.458000																								0							SO:0001587	stop_gained			ENST00000262752.2	0	1	hg19	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.373426	0.95923	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	5.11	2.15	0.27550	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2327	0.59953	0.0:0.0:0.5813:0.4187	.	.	.	.	X	734	.	ENSP00000262752:R734X	R	-	1	2	RPS6KA6	83205979	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	3.126000	0.50477	0.011000	0.14865	0.600000	0.82982	CGA		TCGA-3A-A9IB-01A-21D-A397-08	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	1	0	1	33	103	0	26	0	0	0	1	0	26	2		0	0	0	0	0	2	1	1.000000	33	103	0	25	2		0	0	0	0	0	2	-19.999960	1	1	0	0		1	0	1	1			0.380000	1.970000	0.380000	0.990000	9.200000e-01	1.000000	1.000000	0.995502	0.990000	1	0.990000	1.000000
