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
MMS19	64210	broad.mit.edu	37	10	99219804	99219804	+	Splice_Site	DEL	T	T	-			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr10:99219804delT	ENST00000438925.2	-	26	2990	c.2655delA	c.(2653-2655)caa>ca	p.Q885fs	MMS19_ENST00000370782.2_Splice_Site_p.Q885fs|MMS19_ENST00000327238.10_Splice_Site_p.Q787fs|MMS19_ENST00000355839.6_Splice_Site_p.Q842fs|MMS19_ENST00000327277.7_3'UTR	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)			16		Colorectal(252;0.0846)			ACTCCTCACCTTGGGGAGCAG	0.522000								Direct reversal of damage																0							SO:0001630	splice_region_variant			ENST00000438925.2	1	0	hg19	CCDS7464.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2	1	0	0	123	458	0	71	1	1	8	165	0	71	2	0	0	0	0	0	0		1	1.000000	126	452	0	70	2								-3.714978	1	1	0	0		1	1	3	4	2.039895	1	0.350000	3.330000	0.462810	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
UNC50	25972	broad.mit.edu	37	2	99226227	99226228	+	Frame_Shift_Ins	INS	-	-	A	rs140953303		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			-	A	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:99226227_99226228insA	ENST00000357765.2	+	2	157_158	c.5_6insA	c.(4-9)ttaccgfs	p.P3fs	COA5_ENST00000483527.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Frame_Shift_Ins_p.P20fs|UNC50_ENST00000409975.1_Frame_Shift_Ins_p.P20fs|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)			10					AGGAAGATGTTACCGAGTACTT	0.450000																								0							SO:0001589	frameshift_variant			ENST00000357765.2	0	1	hg19	CCDS2035.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252987.1	1	0	0	449	2250	0	297	0	1	0	224	0	297	2	0	0	0	0	0	0		1	1.000000	448	2230	0	297	2								-20.000000	1	1	0	0		1	2	2	4	2.240843	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ATM	472	broad.mit.edu	37	11	108199926	108199926	+	Missense_Mutation	SNP	A	A	G	rs121434221		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:108199926A>G	ENST00000452508.2	+	50	7457	c.7268A>G	c.(7267-7269)gAa>gGa	p.E2423G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2423G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	p.E2423G(1)		448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	GCCAAAGAGGAAGTAGGTCTC	0.368000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	1	Substitution - Missense(1)						SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	31	5.072143	0.93950	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.69561	-0.41;-0.41	5.4	5.4	0.78164	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81034	0.4739	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82047	-0.0651	10	0.48119	T	0.1	.	15.4276	0.75065	1.0:0.0:0.0:0.0	.	2423	Q13315	ATM_HUMAN	G	2423	ENSP00000278616:E2423G;ENSP00000388058:E2423G	ENSP00000278616:E2423G	E	+	2	0	ATM	107705136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.332000	0.96446	2.038000	0.60285	0.528000	0.53228	GAA		TCGA-IB-8127-01A-11D-2396-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	1	0	1	135	145	0	44	1	9.999988e-01	13	14	0	44	2	1	1	69	70	0	175	2	1	1.000000	131	144	0	44	2								-20.000000	1	1	0	0		1	0	4	4	2.045999	1	0.350000	3.330000	0.499037	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
OR10G7	390265	broad.mit.edu	37	11	123908881	123908881	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr11:123908881G>A	ENST00000330487.5	-	1	836	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7			47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)			GAGTCAGCGTGGTGTAGAAAA	0.498000																								0							SO:0001819	synonymous_variant			ENST00000330487.5	0	1	hg19	CCDS31705.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	0	0	0	8	453	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.988818	8	447	0	64	2								-3.194992	1	1	0	0		1	0	4	4	2.045999	1	0.350000	3.330000	0.499037	0.140000	5.000000e-02	1.000000	0.120000	0.245508	0.140000	0	9.000000e-02	2.400000e-01
BTBD11	121551	broad.mit.edu	37	12	108010914	108010914	+	Missense_Mutation	SNP	G	G	A	rs147351765		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:108010914G>A	ENST00000280758.5	+	8	2578	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	BTBD11_ENST00000490090.2_Missense_Mutation_p.E684K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E684K|BTBD11_ENST00000357167.4_Missense_Mutation_p.E221K|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	p.E684K(2)		53					GGAGCATGGCGAGGAGAACTA	0.607000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000280758.5	1	1	hg19	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942606	0.73672	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.39592	1.26;1.2;1.27;1.07	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.249509	0.47455	D	0.000233	T	0.35451	0.0932	N	0.11313	0.125	0.80722	D	1	D;P;D;D	0.69078	0.99;0.618;0.98;0.997	P;B;P;P	0.48873	0.481;0.195;0.514;0.593	T	0.35871	-0.9771	10	0.49607	T	0.09	.	18.8886	0.92389	0.0:0.0:1.0:0.0	.	684;221;684;684	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	K	684;684;684;221	ENSP00000280758:E684K;ENSP00000413889:E684K;ENSP00000447319:E684K;ENSP00000349690:E221K	ENSP00000280758:E684K	E	+	1	0	BTBD11	106535044	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	5.294000	0.65687	2.454000	0.82982	0.655000	0.94253	GAG		TCGA-IB-8127-01A-11D-2396-08	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	1	0	1	86	516	0	105	0	2.095123e-02	0	2	0	105	2		0	0	0	0	0	2	1	1.000000	85	509	0	103	2								-2.966679	1	1	121412	1	33	1	0	3	3	1.748988	1	0.350000	3.330000	0.435886	0.950000	7.600000e-01	1.000000	1.000000	0.936497	0.950000	1	8.500000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	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-IB-8127-01A-11D-2396-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	48	69	0	24	1	1	46	35	0	24	2	1	1	111	246	0	420	2	1	1.000000	48	69	0	24	2								-20.000000	1	1	121404	2	44	1	2	4	6	2.345273	1	0.350000	3.330000	0.551105	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CCND2	894	broad.mit.edu	37	12	4383259	4383259	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:4383259G>A	ENST00000261254.3	+	1	322	c.53G>A	c.(52-54)cGc>cAc	p.R18H	RP11-264F23.3_ENST00000539135.1_RNA|RP11-264F23.4_ENST00000537370.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2			17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)		GTGCGGGACCGCAACCTGCTC	0.667000			T	IGL@	NHL,CLL										Dom	yes		12	12p13	894	cyclin D2		L	0							SO:0001583	missense			ENST00000261254.3	0	1	hg19	CCDS8524.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643155	0.47153	.	.	ENSG00000118971	ENST00000261254	T	0.08282	3.11	4.17	1.27	0.21489	Cyclin-like (1);	0.176202	0.51477	D	0.000085	T	0.04497	0.0123	N	0.19112	0.55	0.32574	N	0.52943	P	0.39116	0.66	B	0.30646	0.118	T	0.26155	-1.0111	10	0.72032	D	0.01	.	8.7994	0.34898	0.1271:0.4759:0.397:0.0	.	18	P30279	CCND2_HUMAN	H	18	ENSP00000261254:R18H	ENSP00000261254:R18H	R	+	2	0	CCND2	4253520	1.000000	0.71417	0.997000	0.53966	0.504000	0.33889	3.174000	0.50847	0.064000	0.16427	-0.339000	0.08088	CGC		TCGA-IB-8127-01A-11D-2396-08	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398287.1	0	0	0	4	177	0	21	0	1.644763e-01	0	26	0	21	2		0	0	0	0	0	2	1	0.887322	4	174	0	20	2								-6.110801	1	1	121398	1	20	1	1	3	4	2.064882	1	0.350000	3.330000	0.485149	0.200000	5.000000e-02	1.000000	0.170000	0.340173	0.200000	0	1.100000e-01	1
HOXC10	3226	broad.mit.edu	37	12	54379388	54379388	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:54379388C>T	ENST00000303460.4	+	1	419	c.345C>T	c.(343-345)agC>agT	p.S115S	HOXC-AS3_ENST00000513165.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10			20					GCATGTACAGCGCAGAGAAGC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000303460.4	1	1	hg19	CCDS8868.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2	1	0	1	88	337	0	62	0	4.455657e-01	0	7	0	62	2		0	0	0	0	0	2	1	1.000000	87	336	0	61	2								-20.000000	1	1	121410	1	19	1	2	3	5	2.272987	1	0.350000	3.330000	0.537119	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LYZ	4069	broad.mit.edu	37	12	69744008	69744008	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:69744008G>A	ENST00000261267.2	+	2	325	c.257G>A	c.(256-258)gGc>gAc	p.G86D	LYZ_ENST00000548839.1_Missense_Mutation_p.G86D|LYZ_ENST00000549690.1_Missense_Mutation_p.G86D	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme			4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)	L-Aspartic Acid(DB00128)	TGTAATGATGGCAAAACCCCA	0.413000																								0							SO:0001583	missense			ENST00000261267.2	0	1	hg19	CCDS8989.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381206	0.42207	.	.	ENSG00000090382	ENST00000261267;ENST00000549690;ENST00000548839	T;T;T	0.76186	-1.0;-1.0;-1.0	5.94	5.94	0.96194	Lysozyme-like domain (1);	0.220360	0.46758	D	0.000261	D	0.82572	0.5066	M	0.76328	2.33	0.48288	D	0.999622	P	0.36768	0.569	P	0.53450	0.726	T	0.80830	-0.1207	9	.	.	.	.	11.1713	0.48573	0.0826:0.0:0.9174:0.0	.	86	P61626	LYSC_HUMAN	D	86	ENSP00000261267:G86D;ENSP00000449898:G86D;ENSP00000449969:G86D	.	G	+	2	0	LYZ	68030275	1.000000	0.71417	0.999000	0.59377	0.104000	0.19210	3.368000	0.52357	2.820000	0.97059	0.650000	0.86243	GGC		TCGA-IB-8127-01A-11D-2396-08	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	0	0	0	5	664	0	97	1	9.999967e-01	9	6779	0	97	2		0	0	0	0	0	2	1	0.935753	5	656	0	97	2								-2.519719	1	0	0	0		1	3	3	6	2.279019	1	0.350000	3.330000	0.537696	0.070000	1.000000e-02	1.000000	0.050000	0.289599	0.070000	0	3.000000e-02	1
ZFC3H1	196441	broad.mit.edu	37	12	72008421	72008421	+	Missense_Mutation	SNP	T	T	C	rs11541286	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:72008421T>C	ENST00000378743.3	-	30	5778	c.5420A>G	c.(5419-5421)aAa>aGa	p.K1807R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing			69					AGTAAAAAATTTGAATTCTTG	0.333000																								0							SO:0001583	missense			ENST00000378743.3	1	0	hg19	CCDS41813.1	76	0.0347985347985348	3	0.006097560975609756	24	0.06629834254143646	1	0.0017482517482517483	48	0.0633245382585752	T	12.11	1.840561	0.32513	0.02021	0.075571	ENSG00000133858	ENST00000378743	T	0.34072	1.38	5.35	0.0229	0.14135	.	0.161807	0.53938	N	0.000047	T	0.00998	0.0033	L	0.27053	0.805	0.80722	D	1	B	0.15141	0.012	B	0.12156	0.007	T	0.08310	-1.0728	10	0.48119	T	0.1	.	5.3631	0.16099	0.1189:0.2036:0.0:0.6775	rs11541286;rs52822945;rs59889096;rs11541286	1807	O60293	ZC3H1_HUMAN	R	1807	ENSP00000368017:K1807R	ENSP00000368017:K1807R	K	-	2	0	ZFC3H1	70294688	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	0.659000	0.24994	-0.238000	0.09724	0.455000	0.32223	AAA		TCGA-IB-8127-01A-11D-2396-08	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	0	0	1	240	837	0	126	1	1	36	61	0	126	2		0	0	0	0	0	2	1	1.000000	238	828	2	125	36								-0.878318	0	1	120786	8088	74	1	3	3	6	2.279019	1	0.350000	3.330000	0.537696	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CLEC2D	29121	broad.mit.edu	37	12	9840545	9840545	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr12:9840545G>A	ENST00000290855.6	+	3	242	c.220G>A	c.(220-222)Gca>Aca	p.A74T	CLEC2D_ENST00000543300.1_Missense_Mutation_p.A74T|CLEC2D_ENST00000261340.7_Missense_Mutation_p.A74T|CLEC2D_ENST00000545918.1_Missense_Mutation_p.A37T|CLEC2D_ENST00000261339.6_Missense_Mutation_p.A37T	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D			9					TCTTCAAGCTGCATGCCCAGA	0.328000																								0							SO:0001583	missense			ENST00000290855.6	0	1	hg19	CCDS8602.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268812	0.23136	.	.	ENSG00000069493	ENST00000479410;ENST00000261340;ENST00000290855;ENST00000545918;ENST00000543300;ENST00000261339;ENST00000466035;ENST00000430909;ENST00000544322;ENST00000460309	T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;0.96;0.96;-0.02;-0.02;0.96;0.96;-0.02;-0.02;0.96	3.17	2.01	0.26516	C-type lectin-like (1);	0.215967	0.20083	U	0.099615	T	0.46619	0.1402	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31790	0.104;0.112;0.34	B;B;B	0.40009	0.316;0.05;0.316	T	0.32903	-0.9889	9	.	.	.	-6.2397	5.3342	0.15949	0.2405:0.0:0.7595:0.0	.	74;74;74	Q9UHP7-5;Q9UHP7;Q9UHP7-3	.;CLC2D_HUMAN;.	T	32;74;74;37;74;37;31;53;48;17	ENSP00000442252:A32T;ENSP00000261340:A74T;ENSP00000290855:A74T;ENSP00000444818:A37T;ENSP00000443065:A74T;ENSP00000261339:A37T;ENSP00000446028:A31T;ENSP00000413045:A53T;ENSP00000437861:A48T;ENSP00000443177:A17T	.	A	+	1	0	CLEC2D	9731812	0.000000	0.05858	0.002000	0.10522	0.063000	0.16089	-1.111000	0.03303	0.390000	0.25115	0.430000	0.28490	GCA		TCGA-IB-8127-01A-11D-2396-08	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000335424.2	0	0	0	7	595	0	114	0	1.113916e-01	0	41	0	114	2		0	0	0	0	0	2	1	0.979506	7	585	0	112	2								-2.257911	0	1	0	0		1	1	3	4	2.022611	1	0.350000	3.330000	0.486572	0.090000	3.000000e-02	1.000000	0.080000	0.253313	0.090000	0	5.000000e-02	1
PCDH9	5101	broad.mit.edu	37	13	66879140	66879140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr13:66879140C>A	ENST00000377865.2	-	4	3495	c.3361G>T	c.(3361-3363)Gga>Tga	p.G1121*	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.G1087*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.G1121*			Q9HC56	PCDH9_HUMAN	protocadherin 9			103		Hepatocellular(98;0.0906)|Breast(118;0.107)			TCAGCTAATCCTCGGGGACCC	0.428000																								0							SO:0001587	stop_gained			ENST00000377865.2	0	1	hg19	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	41	8.954328	0.99016	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	.	.	.	6.07	6.07	0.98685	.	0.000000	0.48286	D	0.000197	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	1121;1121;1087;1087	.	ENSP00000332060:G1087X	G	-	1	0	PCDH9	65777141	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.890000	0.99128	0.650000	0.86243	GGA		TCGA-IB-8127-01A-11D-2396-08	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	1	0	1	45	189	0	50	0	3.865408e-02	0	2	0	50	2		0	0	0	0	0	2	1	1.000000	45	186	0	50	2								-3.547497	1	1	0	0		1	0	2	2	1.665391	1	0.350000	3.330000	0.350000	0.990000	8.200000e-01	1.000000	1.000000	0.980959	0.990000	1	9.500000e-01	1
KIAA0586	9786	broad.mit.edu	37	14	58927860	58927860	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:58927860G>T	ENST00000556134.1	+	15	2270	c.1996G>T	c.(1996-1998)Gta>Tta	p.V666L	KIAA0586_ENST00000261244.5_Missense_Mutation_p.V605L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V734L|KIAA0586_ENST00000423743.3_Missense_Mutation_p.V637L|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586			34					GAGACCAAAAGTAATAGAACG	0.323000																								0							SO:0001583	missense			ENST00000556134.1	1	1	hg19	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970319	0.53614	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.8	3.93	0.45458	.	0.098661	0.44483	N	0.000456	T	0.52289	0.1725	L	0.36672	1.1	0.36033	D	0.839523	B;B;D;P;B;B	0.56521	0.197;0.197;0.976;0.879;0.197;0.197	B;B;P;B;B;B	0.52424	0.062;0.062;0.698;0.36;0.062;0.062	T	0.62826	-0.6772	10	0.72032	D	0.01	.	11.1811	0.48629	0.0656:0.2395:0.6949:0.0	.	541;541;734;605;666;637	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	734;666;637;605;541	ENSP00000346359:V734L;ENSP00000452351:V666L;ENSP00000399427:V637L;ENSP00000261244:V605L	ENSP00000261244:V605L	V	+	1	0	KIAA0586	57997613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.740000	0.26188	0.751000	0.32900	0.650000	0.86243	GTA		TCGA-IB-8127-01A-11D-2396-08	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	1	0	1	31	108	0	16	1	9.888295e-01	9	19	0	16	2		0	0	0	0	0	2	1	1.000000	30	107	0	16	2								-20.000000	1	1	0	0		1	2	2	4	2.164920	1	0.350000	3.330000	0.513473	0.990000	9.900000e-01	1.000000	1.000000	0.999934	0.990000	1	9.900000e-01	1
NRXN3	9369	broad.mit.edu	37	14	80328016	80328016	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr14:80328016G>A	ENST00000557594.1	+	6	2576	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	NRXN3_ENST00000281127.7_Silent_p.T336T|NRXN3_ENST00000554719.1_Silent_p.T965T|NRXN3_ENST00000335750.5_Silent_p.T965T|NRXN3_ENST00000428277.2_Silent_p.T363T|NRXN3_ENST00000556003.1_3'UTR	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	p.T965T(1)|p.T363T(1)		104		Renal(4;0.00876)			CAAACCCCACGGAGCCGGGAA	0.597000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000557594.1	1	1	hg19																																																																																					TCGA-IB-8127-01A-11D-2396-08	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	1	0	1	41	310	0	52	0	3.977462e-02	0	3	0	52	2		0	0	0	0	0	2	1	1.000000	41	309	0	51	2								-3.221893	1	1	121412	1	34	1	2	2	4	2.164920	1	0.350000	3.330000	0.513473	0.900000	6.500000e-01	1.000000	1.000000	0.889592	0.900000	1	7.700000e-01	1
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr15:51504611T>C	ENST00000396402.1	-	9	1322	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_ENST00000559878.1_Missense_Mutation_p.K390R|CYP19A1_ENST00000396404.4_Missense_Mutation_p.K390R|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.K390R	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1			33				Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTTTGTCCCCTTTTTCACTGG	0.413000													Melanoma(142;1016 1807 39614 48966 51721)											0							SO:0001583	missense			ENST00000396402.1	0	1	hg19	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922211	0.52653	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404	T;T;T	0.73575	-0.76;-0.76;-0.76	6.06	2.13	0.27403	.	0.084915	0.85682	N	0.000000	T	0.69691	0.3139	L	0.58354	1.805	0.46279	D	0.998961	B	0.15141	0.012	B	0.27262	0.078	T	0.66152	-0.5995	10	0.52906	T	0.07	-23.6398	10.5475	0.45068	0.0:0.2114:0.0:0.7886	.	390	P11511	CP19A_HUMAN	R	390	ENSP00000379683:K390R;ENSP00000260433:K390R;ENSP00000379685:K390R	ENSP00000260433:K390R	K	-	2	0	CYP19A1	49291903	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.131000	0.50515	0.541000	0.28827	0.533000	0.62120	AAG		TCGA-IB-8127-01A-11D-2396-08	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1	0	0	0	5	806	1	119		0	0	0	1	119	2		0	0	0	0	0	2	0	0.000600	6	794	1	116	22								-1.939015	0	1	0	0		1	1	2	3	1.928734	1	0.350000	3.330000	0.446809	0.040000	0	0.100000	0.030000	0.048321	0.040000	0	1.000000e-02	7.000000e-02
CPPED1	55313	broad.mit.edu	37	16	12875142	12875142	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:12875142C>A	ENST00000381774.4	-	2	429	c.189G>T	c.(187-189)caG>caT	p.Q63H	CPPED1_ENST00000433677.2_Missense_Mutation_p.Q63H|CPPED1_ENST00000261660.4_Missense_Mutation_p.Q63H	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1			18					GACGGATCTCCTGTTCCCATT	0.567000																								0							SO:0001583	missense			ENST00000381774.4	1	1	hg19	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603337	0.46423	.	.	ENSG00000103381	ENST00000381774;ENST00000433677;ENST00000261660	T;T;T	0.03358	3.96;4.02;3.96	5.25	4.29	0.51040	.	0.231983	0.42964	D	0.000630	T	0.08268	0.0206	L	0.56769	1.78	0.43885	D	0.996505	P;B	0.40875	0.731;0.01	P;B	0.47528	0.549;0.026	T	0.01814	-1.1268	10	0.62326	D	0.03	-22.7053	10.8774	0.46919	0.0:0.9093:0.0:0.0907	.	63;63	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	H	63	ENSP00000371193:Q63H;ENSP00000411127:Q63H;ENSP00000261660:Q63H	ENSP00000261660:Q63H	Q	-	3	2	CPPED1	12782643	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.390000	0.44416	2.450000	0.82876	0.563000	0.77884	CAG		TCGA-IB-8127-01A-11D-2396-08	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	1	0	1	71	185	0	49	0	1	0	110	0	49	2		0	0	0	0	0	2	1	1.000000	68	182	0	49	2								-5.914900	1	1	0	0		1	3	3	6	2.254030	1	0.350000	3.330000	0.533046	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
C16orf62	57020	broad.mit.edu	37	16	19621689	19621689	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr16:19621689G>A	ENST00000251143.5	+	12	987	c.975G>A	c.(973-975)ggG>ggA	p.G325G	C16orf62_ENST00000448695.1_Silent_p.G175G|C16orf62_ENST00000543152.1_Silent_p.G74G|C16orf62_ENST00000438132.3_Silent_p.G414G|C16orf62_ENST00000417362.2_Silent_p.G325G|C16orf62_ENST00000542263.1_Silent_p.G414G			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62			36					TGATCAGAGGGATCGGAGACC	0.572000																								0							SO:0001819	synonymous_variant			ENST00000251143.5	1	1	hg19																																																																																					TCGA-IB-8127-01A-11D-2396-08	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	65	172	0	36	1	1	51	91	0	36	2		0	0	0	0	0	2	1	1.000000	64	167	0	36	2								-20.000000	1	1	0	0		1	2	2	4	2.223094	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	p.V842I(6)		247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)					Dom	yes		17	17q21.1	2064	v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)		E	6	Substitution - Missense(6)						SO:0001583	missense			ENST00000269571.5	1	1	hg19	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA		TCGA-IB-8127-01A-11D-2396-08	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2	1	0	1	79	342	0	60	1	1	109	303	0	60	2		0	0	0	0	0	2	1	1.000000	78	333	0	60	2								-3.159312	1	1	0	0		1	1	3	4	2.017476	1	0.350000	3.330000	0.458108	0.990000	9.900000e-01	1.000000	1.000000	0.999740	0.990000	1	9.900000e-01	1
SPNS3	201305	broad.mit.edu	37	17	4348390	4348390	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:4348390G>A	ENST00000355530.2	+	3	609	c.329G>A	c.(328-330)cGc>cAc	p.R110H	SPNS3_ENST00000333476.2_Intron|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)			28					CGACATAGCCGCAAGGCTACC	0.612000																								0							SO:0001583	missense			ENST00000355530.2	0	1	hg19	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522058	0.64747	.	.	ENSG00000182557	ENST00000355530	T	0.67345	-0.26	4.51	4.51	0.55191	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89136	0.3513	10	0.87932	D	0	-27.825	15.5243	0.75890	0.0:0.0:1.0:0.0	.	110	Q6ZMD2	SPNS3_HUMAN	H	110	ENSP00000347721:R110H	ENSP00000347721:R110H	R	+	2	0	SPNS3	4295139	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.349000	0.97066	2.446000	0.82766	0.561000	0.74099	CGC		TCGA-IB-8127-01A-11D-2396-08	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	0	0	0	7	769	0	181	0	6.988969e-04	0	4	0	181	2		0	0	0	0	0	2	1	0.979822	7	760	0	180	2								-1.819676	0	1	121412	4	45	1	0	2	2	1.683566	1	0.350000	3.330000	0.350000	0.050000	1.000000e-02	0.100000	0.060000	0.058657	0.050000	0	3.000000e-02	8.000000e-02
RNF43	54894	broad.mit.edu	37	17	56437563	56437563	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:56437563T>C	ENST00000584437.1	-	7	2854	c.899A>G	c.(898-900)gAc>gGc	p.D300G	RNF43_ENST00000407977.2_Missense_Mutation_p.D300G|RNF43_ENST00000583753.1_Missense_Mutation_p.D259G|RNF43_ENST00000500597.2_Missense_Mutation_p.D259G|RNF43_ENST00000581868.1_Missense_Mutation_p.D173G|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.D300G|RNF43_ENST00000577625.1_Missense_Mutation_p.D173G			Q68DV7	RNF43_HUMAN	ring finger protein 43			60	Medulloblastoma(34;0.127)|all_neural(34;0.237)				TAACCAGGGGTCCACACAGTT	0.532000																								0							SO:0001583	missense			ENST00000584437.1	1	1	hg19	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038923	0.93630	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.61274	0.12;0.12	5.09	5.09	0.68999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.110516	0.64402	D	0.000014	T	0.73900	0.3646	M	0.77103	2.36	0.58432	D	0.999998	P;D;D	0.60575	0.913;0.988;0.982	P;P;P	0.62740	0.767;0.906;0.762	T	0.78319	-0.2250	10	0.87932	D	0	-12.8846	14.0453	0.64702	0.0:0.0:0.0:1.0	.	259;300;300	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	G	300;259	ENSP00000385328:D300G;ENSP00000441969:D259G	ENSP00000385328:D300G	D	-	2	0	RNF43	53792562	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.649000	0.83500	1.925000	0.55765	0.454000	0.30748	GAC		TCGA-IB-8127-01A-11D-2396-08	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	1	0	1	152	348	1	100	1	9.999987e-01	62	1	1	100	4	1	1	104	215	1	511	4	1	1.000000	151	343	1	100	17								-20.000000	1	1	0	0		1	0	2	2	1.688006	1	0.350000	3.330000	0.350000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNFSF12	8742	broad.mit.edu	37	17	7460597	7460597	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7460597G>A	ENST00000293825.6	+	7	943	c.680G>A	c.(679-681)cGc>cAc	p.R227H	TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12			11		Prostate(122;0.157)			CTGCGGATCCGCACCCTCCCC	0.677000																								0							SO:0001583	missense			ENST00000293825.6	0	1	hg19	CCDS11109.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203583	0.79127	.	.	ENSG00000239697	ENST00000293825	D	0.94417	-3.42	4.76	2.58	0.30949	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.94679	0.8284	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93286	0.6664	9	0.41790	T	0.15	.	12.3257	0.55009	0.0:0.0:0.695:0.305	.	227	O43508	TNF12_HUMAN	H	227	ENSP00000293825:R227H	ENSP00000293825:R227H	R	+	2	0	TNFSF12	7401321	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.653000	0.46691	1.127000	0.42034	0.561000	0.74099	CGC		TCGA-IB-8127-01A-11D-2396-08	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226951.2	0	0	0	6	359	0	74	0	9.190987e-01	0	270	0	74	2		0	0	0	0	0	2	1	0.962825	6	351	0	73	2								-2.716136	1	1	121396	3	34	1	0	2	2	1.675089	1	0.350000	3.330000	0.350000	0.090000	3.000000e-02	0.190000	0.100000	0.108424	0.090000	0	6.000000e-02	1.500000e-01
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		TCGA-IB-8127-01A-11D-2396-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	38	88	0	34	1	1	65	50	0	34	2	1	1	206	391	0	1139	2	1	1.000000	38	84	0	34	2								-20.000000	1	1	121412	1	37	1	0	2	2	1.675089	1	0.350000	3.330000	0.350000	0.990000	9.900000e-01	1.000000	1.000000	0.999987	0.990000	1	9.900000e-01	1
ZNF521	25925	broad.mit.edu	37	18	22805518	22805518	+	Silent	SNP	G	G	A	rs28689581	byFrequency	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr18:22805518G>A	ENST00000361524.3	-	4	2512	c.2364C>T	c.(2362-2364)tgC>tgT	p.C788C	ZNF521_ENST00000538137.2_Silent_p.C788C|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.C568C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				AGGACTCACCGCAGAAAATGC	0.493000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001819	synonymous_variant			ENST00000361524.3	1	0	hg19	CCDS32806.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	1	83	566	0	84	0	9.655219e-01	0	39	0	84	2		0	0	0	0	0	2	1	1.000000	83	558	0	84	2								-2.879460	1	1	121412	527	60	1						0.350000	3.330000									0	0
ATP1A3	478	broad.mit.edu	37	19	42480634	42480634	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:42480634G>A	ENST00000302102.5	-	15	2178	c.2028C>T	c.(2026-2028)acC>acT	p.T676T	ATP1A3_ENST00000602133.1_Silent_p.T646T|ATP1A3_ENST00000545399.1_Silent_p.T689T|ATP1A3_ENST00000543770.1_Silent_p.T687T	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide			52					AGACGATCTCGGTGTGATTCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000302102.5	1	1	hg19	CCDS12594.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	1	0	1	118	316	0	71	0	0	1	0	0	71	2		0	0	0	0	0	2	1	1.000000	117	313	0	70	2								-7.009313	1	1	121412	1	29	1	3	3	6	2.271022	1	0.350000	3.330000	0.535382	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ZNRF4	148066	broad.mit.edu	37	19	5456673	5456673	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr19:5456673C>T	ENST00000222033.4	+	1	1248	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4			16					AGTCCAGCTACGCTCCCGGAG	0.657000																								0							SO:0001583	missense			ENST00000222033.4	1	1	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211845	0.39102	.	.	ENSG00000105428	ENST00000222033	T	0.05319	3.46	3.47	3.47	0.39725	.	0.172241	0.34435	U	0.003970	T	0.13713	0.0332	L	0.32530	0.975	0.40657	D	0.982097	D	0.89917	1.0	D	0.75020	0.985	T	0.02477	-1.1153	10	0.62326	D	0.03	-27.0721	11.1698	0.48565	0.0:1.0:0.0:0.0	.	391	Q8WWF5	ZNRF4_HUMAN	C	391	ENSP00000222033:R391C	ENSP00000222033:R391C	R	+	1	0	ZNRF4	5407673	0.977000	0.34250	1.000000	0.80357	0.045000	0.14185	1.309000	0.33539	1.891000	0.54761	0.561000	0.74099	CGC		TCGA-IB-8127-01A-11D-2396-08	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	1	0	1	56	293	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	1.000000	56	287	0	71	2								-20.000000	1	1	120884	1	29	1	1	2	3	1.970622	1	0.350000	3.330000	0.446809	0.990000	8.300000e-01	1.000000	1.000000	0.980593	0.990000	1	9.400000e-01	1
VWA1	64856	broad.mit.edu	37	1	1374492	1374492	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1374492G>A	ENST00000476993.1	+	3	741	c.663G>A	c.(661-663)acG>acA	p.T221T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T9T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1			8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)			TCCATGCCACGGAGATCACGT	0.711000																								0							SO:0001819	synonymous_variant			ENST00000476993.1	1	1	hg19	CCDS27.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	1	0	1	13	120	0	24	1	1	57	330	0	24	2		0	0	0	0	0	2	1	0.999583	13	118	0	24	2								-19.419930	1	1	120026	3	30	1	2	2	4	1.868805	1	0.350000	3.330000	0.438445	0.730000	3.900000e-01	1.000000	1.000000	0.753450	0.730000	0	5.300000e-01	1
ACP6	51205	broad.mit.edu	37	1	147131792	147131792	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:147131792G>A	ENST00000369238.6	-	2	765	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ACP6_ENST00000392988.2_Silent_p.Y106Y	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic			16	all_hematologic(923;0.0276)				ATTGAGAGTCGTAAGGAGAAT	0.507000																								0							SO:0001819	synonymous_variant			ENST00000369238.6	1	1	hg19	CCDS928.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	1	0	0	100	286	0	59	1	1	19	58	0	59	2		0	0	0	0	0	2	1	1.000000	99	283	0	59	2								-20.000000	1	1	121412	4	37	1	3	3	6	2.255618	1	0.350000	3.330000	0.533046	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PSMB4	5692	broad.mit.edu	37	1	151372491	151372491	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:151372491G>A	ENST00000290541.6	+	2	229	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4			14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		AGTCCTCGGCGTTAAGTTCGA	0.592000																								0							SO:0001583	missense			ENST00000290541.6	0	1	hg19	CCDS996.1	.	.	.	.	.	.	.	.	.	.	G	9.747	1.166446	0.21621	.	.	ENSG00000159377	ENST00000290541	T	0.28255	1.62	5.34	4.42	0.53409	Proteasome, beta-type subunit, conserved site (1);	0.057731	0.64402	D	0.000001	T	0.04543	0.0124	N	0.03903	-0.33	0.58432	D	0.999996	B;B	0.09022	0.001;0.002	B;B	0.17098	0.012;0.017	T	0.26815	-1.0092	10	0.02654	T	1	-15.3311	14.7134	0.69249	0.0:0.146:0.854:0.0	.	59;59	B4DFL3;P28070	.;PSB4_HUMAN	I	59	ENSP00000290541:V59I	ENSP00000290541:V59I	V	+	1	0	PSMB4	149639115	1.000000	0.71417	0.712000	0.30502	0.997000	0.91878	4.476000	0.60216	1.232000	0.43678	0.561000	0.74099	GTT		TCGA-IB-8127-01A-11D-2396-08	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	0	0	0	7	815	0	136	0	9.980575e-01	0	1420	0	136	2		0	0	0	0	0	2	1	0.979769	7	805	0	131	2								-2.483483	0	1	0	0		1	2	2	4	2.214488	1	0.350000	3.330000	0.518519	0.060000	1.000000e-02	0.140000	0.080000	0.074091	0.060000	0	3.000000e-02	1.000000e-01
FLG	2312	broad.mit.edu	37	1	152280068	152280068	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:152280068C>T	ENST00000368799.1	-	3	7329	c.7294G>A	c.(7294-7296)Ggg>Agg	p.G2432R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin			424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)		GTGCTGGTCCCGGTCCGTCCA	0.592000									Ichthyosis															0							SO:0001583	missense	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	ENST00000368799.1	1	1	hg19	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291031	0.23564	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	4.37	-6.56	0.01848	.	.	.	.	.	T	0.00300	0.0009	N	0.21448	0.665	0.09310	N	1	B	0.27013	0.166	B	0.16289	0.015	T	0.47935	-0.9078	9	0.14656	T	0.56	.	1.9786	0.03421	0.1118:0.2438:0.3309:0.3135	.	2432	P20930	FILA_HUMAN	R	2432	ENSP00000357789:G2432R	ENSP00000357789:G2432R	G	-	1	0	FLG	150546692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.200000	0.03029	-1.351000	0.02197	-2.865000	0.00100	GGG		TCGA-IB-8127-01A-11D-2396-08	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	0	1	643	1774	1	343	0	0	0	1	1	343	2		0	0	0	0	0	2	1	1.000000	639	1759	1	340	23								-17.278260	1	1	121412	4	44	1	2	2	4	2.214488	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
MUC1	4582	broad.mit.edu	37	1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated			10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		GCTGGCGGGGTGGTGGAGCCC	0.711000			T	IGH@	B-NHL										Dom	yes		1	1q21	4582	mucin 1, transmembrane		L	0							SO:0001583	missense			ENST00000368395.1	0	1	hg19	CCDS55640.1	.	.	.	.	.	.	.	.	.	.	T	8.249	0.808546	0.16467	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.20200	2.09	2.73	0.35	0.16037	.	2.188600	0.02617	N	0.102742	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	0.999999	D	0.65815	0.995	D	0.68483	0.958	T	0.17684	-1.0361	10	0.39692	T	0.17	.	3.1844	0.06596	0.0:0.2782:0.2183:0.5034	.	112	P15941	MUC1_HUMAN	P	112	ENSP00000357380:T112P	ENSP00000357380:T112P	T	-	1	0	MUC1	153428423	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.417000	0.07088	0.027000	0.15297	-1.038000	0.02383	ACC		TCGA-IB-8127-01A-11D-2396-08	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	0	0	28	82	1	23	1	9.999948e-01	69	550	1	23	60		0	0	0	0	0	2	1	0.986001	27	78	1	22	15								-2.663877	1	1	120668	181	36	1	2	2	4	2.214488	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	0.999991	0.990000	1	9.900000e-01	1
HMCN1	83872	broad.mit.edu	37	1	185902879	185902879	+	Missense_Mutation	SNP	A	A	G	rs143393655		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:185902879A>G	ENST00000271588.4	+	11	1980	c.1751A>G	c.(1750-1752)aAc>aGc	p.N584S	HMCN1_ENST00000367492.2_Missense_Mutation_p.N584S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					GTGAAATTCAACGATGCTGGA	0.463000																								0							SO:0001583	missense			ENST00000271588.4	1	1	hg19	CCDS30956.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	0.109	-1.141427	0.01728	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.23950	1.88;1.88	5.67	-3.39	0.04868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.763207	0.13136	N	0.411053	T	0.04679	0.0127	N	0.00783	-1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38972	-0.9636	10	0.07990	T	0.79	.	2.6597	0.05023	0.2194:0.4469:0.1585:0.1752	.	584	Q96RW7	HMCN1_HUMAN	S	584	ENSP00000271588:N584S;ENSP00000356462:N584S	ENSP00000271588:N584S	N	+	2	0	HMCN1	184169502	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.230000	0.09083	-0.188000	0.10499	-0.242000	0.12053	AAC		TCGA-IB-8127-01A-11D-2396-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	1	0	1	174	511	0	110	0	3.763574e-01	0	5	0	110	2		0	0	0	0	0	2	1	1.000000	172	509	0	110	2								-20.000000	1	1	121412	7	43	1	2	2	4	2.214488	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
GABRD	2563	broad.mit.edu	37	1	1961126	1961126	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:1961126C>T	ENST00000378585.4	+	8	1067	c.984C>T	c.(982-984)taC>taT	p.Y328Y		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta			20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGTGGAGTACGCCTTTGCTC	0.612000																								0							SO:0001819	synonymous_variant			ENST00000378585.4	1	1	hg19	CCDS36.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	1	0	1	32	251	0	64	0	3.250425e-01	0	10	0	64	2		0	0	0	0	0	2	1	1.000000	32	247	0	64	2								-20.000000	1	0	121348	1	32	1	2	3	5	1.844463	1	0.350000	3.330000	0.428069	0.770000	5.200000e-01	1.000000	0.730000	0.793561	0.770000	0	6.300000e-01	1
EPHA8	2046	broad.mit.edu	37	1	22925390	22925390	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:22925390C>T	ENST00000166244.3	+	13	2310	c.2238C>T	c.(2236-2238)gcC>gcT	p.A746A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8			61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)			GAGTGGGTGCCGGCATGCGCT	0.627000																								0							SO:0001819	synonymous_variant			ENST00000166244.3	1	1	hg19	CCDS225.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	1	0	1	20	119	0	34		0	0	0	0	34	2		0	0	0	0	0	2	1	0.999997	20	117	0	34	2								-3.342141	1	1	121364	13	40	1	1	2	3	1.835520	1	0.350000	3.330000	0.415468	0.990000	6.100000e-01	1.000000	1.000000	0.912953	0.990000	1	7.700000e-01	1
SERINC2	347735	broad.mit.edu	37	1	31899619	31899619	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr1:31899619C>T	ENST00000373709.3	+	6	879	c.729C>T	c.(727-729)aaC>aaT	p.N243N	SERINC2_ENST00000536384.1_Silent_p.N247N|SERINC2_ENST00000536859.1_Silent_p.N247N|SERINC2_ENST00000373710.1_Silent_p.N252N|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2			12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)			TCAGCCTCAACCTCACCTTCT	0.622000																								0							SO:0001819	synonymous_variant			ENST00000373709.3	1	1	hg19	CCDS30662.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	1	0	0	193	968	0	199	1	1	525	864	0	199	2		0	0	0	0	0	2	1	1.000000	190	959	0	197	2								-20.000000	1	1	0	0		1	1	2	3	1.835520	1	0.350000	3.330000	0.415468	0.990000	9.200000e-01	1.000000	1.000000	0.994084	0.990000	1	9.900000e-01	1
C20orf112	0	broad.mit.edu	37	20	31043974	31043974	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:31043974C>T	ENST00000359676.5	-	3	476	c.334G>A	c.(334-336)Ggt>Agt	p.G112S	RP5-1184F4.5_ENST00000442179.1_RNA|C20orf112_ENST00000475781.1_5'UTR	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN				15					CCGTCGGCACCGCAGCCATCC	0.652000																								0							SO:0001583	missense			ENST00000359676.5	1	1	hg19	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	C	3.429	-0.116427	0.06881	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.98	-0.0961	0.13638	.	0.486110	0.19807	N	0.105638	T	0.15478	0.0373	N	0.02011	-0.69	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14699	-1.0463	9	0.08599	T	0.76	-3.2168	7.111	0.25390	0.0:0.312:0.0:0.688	.	112	Q96MY1	CT112_HUMAN	S	112	.	ENSP00000352704:G112S	G	-	1	0	C20orf112	30507635	0.003000	0.15002	0.036000	0.18154	0.019000	0.09904	-0.563000	0.05943	0.071000	0.16664	-0.367000	0.07326	GGT		TCGA-IB-8127-01A-11D-2396-08	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2	1	0	1	214	589	0	117	1	9.999928e-01	20	29	0	117	2		0	0	0	0	0	2	1	1.000000	212	585	0	114	2								-8.496379	1	1	121324	1	35	1	2	2	4	2.202238	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCNB1	3745	broad.mit.edu	37	20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:48098546G>A	ENST00000371741.4	-	1	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1			53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	Dalfampridine(DB06637)	TCGCCTTCCCGCTCCCGTAGG	0.582000																								0							SO:0001583	missense			ENST00000371741.4	0	1	hg19	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774548	0.49786	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	D	0.96685	-4.09	5.15	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.97309	0.9120	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.68621	0.959	D	0.97675	1.0169	10	0.87932	D	0	.	12.9275	0.58268	0.0:0.0:0.652:0.348	.	158	Q14721	KCNB1_HUMAN	W	158;113	ENSP00000360806:R158W	ENSP00000360806:R158W	R	-	1	2	KCNB1	47531953	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.892000	0.48625	1.380000	0.46344	-0.311000	0.09066	CGG		TCGA-IB-8127-01A-11D-2396-08	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	0	0	0	9	839	0	130	0	0	0	1	0	130	2		0	0	0	0	0	2	1	0.993914	9	829	0	128	2								-2.121277	0	1	0	0		1	2	2	4	2.202238	1	0.350000	3.330000	0.518519	0.080000	2.000000e-02	0.150000	0.080000	0.091187	0.080000	0	5.000000e-02	1.200000e-01
BIRC7	79444	broad.mit.edu	37	20	61867525	61867525	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr20:61867525C>T	ENST00000217169.3	+	1	291	c.77C>T	c.(76-78)aCg>aTg	p.T26M	BIRC7_ENST00000342412.6_Missense_Mutation_p.T26M|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_5'Flank	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7			12	all_cancers(38;2.72e-09)				GATGGTCCCACGCAGGAGCGC	0.662000																								0							SO:0001583	missense			ENST00000217169.3	0	1	hg19	CCDS13513.1	.	.	.	.	.	.	.	.	.	.	c	9.412	1.080830	0.20309	.	.	ENSG00000101197	ENST00000342412;ENST00000217169	T;T	0.57273	0.63;0.41	4.73	-1.7	0.08159	.	1.838210	0.03858	N	0.273537	T	0.30230	0.0758	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.008;0.009;0.01	B;B;B	0.06405	0.002;0.001;0.002	T	0.08269	-1.0730	10	0.28530	T	0.3	.	1.6898	0.02849	0.157:0.1752:0.156:0.5119	.	26;26;26	Q6R308;Q96CA5;Q96CA5-2	.;BIRC7_HUMAN;.	M	26	ENSP00000345213:T26M;ENSP00000217169:T26M	ENSP00000217169:T26M	T	+	2	0	BIRC7	61337970	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.061000	0.14366	-0.160000	0.11002	0.506000	0.49869	ACG		TCGA-IB-8127-01A-11D-2396-08	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080114.2	1	0	0	17	51	0	8	1	9.969305e-01	13	20	0	8	2		0	0	0	0	0	2	1	0.999982	17	49	0	8	2								-20.000000	1	1	120378	1	29	1	2	2	4	2.202238	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	0.999765	0.990000	1	9.900000e-01	1
CNTNAP5	129684	broad.mit.edu	37	2	125367458	125367458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:125367458G>A	ENST00000431078.1	+	12	2198	c.1834G>A	c.(1834-1836)Ggc>Agc	p.G612S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					AGATGGCAGCGGCCCACTGGG	0.532000																								0							SO:0001583	missense			ENST00000431078.1	1	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332205	0.95733	.	.	ENSG00000155052	ENST00000431078	T	0.59772	0.24	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000112	D	0.83348	0.5235	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86857	0.2027	10	0.62326	D	0.03	.	18.6671	0.91495	0.0:0.0:1.0:0.0	.	612	Q8WYK1	CNTP5_HUMAN	S	612	ENSP00000399013:G612S	ENSP00000399013:G612S	G	+	1	0	CNTNAP5	125083928	1.000000	0.71417	0.887000	0.34795	0.787000	0.44495	8.884000	0.92432	2.826000	0.97356	0.655000	0.94253	GGC		TCGA-IB-8127-01A-11D-2396-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	0	51	443	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	52	441	0	77	2								-3.075755	1	1	120836	2	35	1	2	2	4	2.165928	1	0.350000	3.330000	0.513473	0.790000	5.900000e-01	1.000000	0.790000	0.802997	0.790000	0	6.900000e-01	9.200000e-01
LRP1B	53353	broad.mit.edu	37	2	141457900	141457900	+	Nonsense_Mutation	SNP	G	G	A	rs111904937		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:141457900G>A	ENST00000389484.3	-	41	7689	c.6718C>T	c.(6718-6720)Cga>Tga	p.R2240*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B			606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)			TAAAAGATTCGGTTGGTACCT	0.338000										TSP Lung(27;0.18)			Colon(99;50 2074 2507 20106)											0							SO:0001587	stop_gained			ENST00000389484.3	0	1	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	53	20.963690	0.99936	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	U	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3686	0.60701	0.0:0.0:0.8416:0.1584	.	.	.	.	X	2240;2178	.	ENSP00000374135:R2240X	R	-	1	2	LRP1B	141174370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.608000	0.46308	2.176000	0.68965	0.585000	0.79938	CGA		TCGA-IB-8127-01A-11D-2396-08	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	1	0	1	173	539	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	1.000000	170	533	0	85	2								-5.063698	1	1	0	0		1	2	2	4	2.165928	1	0.350000	3.330000	0.513473	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SCN1A	6323	broad.mit.edu	37	2	166911147	166911147	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:166911147C>T	ENST00000303395.4	-	4	602		c.e4+1		AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Splice_Site|SCN1A_ENST00000409050.1_Splice_Site|SCN1A_ENST00000423058.2_Splice_Site|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGCACTTACGCAAATGTAA	0.343000																								0		GRCh37	CS032427	SCN1A	S		SO:0001630	splice_region_variant			ENST00000303395.4	1	1	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844927	0.91197	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1745	0.93599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN1A	166619393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.726000	0.84824	2.597000	0.87782	0.561000	0.74099	.		TCGA-IB-8127-01A-11D-2396-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	69	235	0	21		0	0	0	0	21	2		0	0	0	0	0	2	1	1.000000	69	233	0	21	2								-20.000000	1	1	0	0		1	2	2	4	2.165928	1	0.350000	3.330000	0.513473	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
DOCK10	55619	broad.mit.edu	37	2	225659771	225659771	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:225659771C>T	ENST00000258390.7	-	45	5046	c.4979G>A	c.(4978-4980)cGt>cAt	p.R1660H	DOCK10_ENST00000409592.3_Missense_Mutation_p.R1654H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	p.R1658H(1)|p.R198H(1)		87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)			AGTCCTTATACGCTTAGTCAG	0.478000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000258390.7	0	1	hg19	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577896	0.96565	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.65178	4.66;-0.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	M	0.91090	3.175	0.58432	D	0.999999	D;P;D;D	0.76494	0.972;0.95;0.984;0.999	B;B;P;D	0.64410	0.444;0.439;0.74;0.925	D	0.86564	0.1843	10	0.87932	D	0	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	1660;514;1654;322	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1654;1660;198	ENSP00000386694:R1654H;ENSP00000258390:R1660H	ENSP00000258390:R1660H	R	-	2	0	DOCK10	225368015	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.487000	0.81328	2.751000	0.94390	0.650000	0.86243	CGT		TCGA-IB-8127-01A-11D-2396-08	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1	0	0	0	10	713	0	107	0	1.785854e-01	0	50	0	107	2		0	0	0	0	0	2	1	0.996747	10	706	0	107	2								-2.600244	1	1	0	0		1	2	2	4	2.165928	1	0.350000	3.330000	0.513473	0.100000	4.000000e-02	1.000000	0.120000	0.141147	0.100000	0	7.000000e-02	1.600000e-01
ANTXR1	84168	broad.mit.edu	37	2	69409641	69409641	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:69409641A>G	ENST00000303714.4	+	16	1524	c.1202A>G	c.(1201-1203)aAg>aGg	p.K401R	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1			29					TGGGGAGAAAAGGGCTCCACA	0.418000									Familial Infantile Hemangioma															0							SO:0001583	missense	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	ENST00000303714.4	0	1	hg19	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276887	0.40294	.	.	ENSG00000169604	ENST00000303714	D	0.82803	-1.65	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.089199	0.85682	D	0.000000	T	0.73575	0.3604	L	0.28400	0.85	0.80722	D	1	B	0.25105	0.118	B	0.27796	0.083	T	0.71199	-0.4663	10	0.49607	T	0.09	-23.5511	9.1252	0.36810	0.9193:0.0:0.0807:0.0	.	401	Q9H6X2	ANTR1_HUMAN	R	401	ENSP00000301945:K401R	ENSP00000301945:K401R	K	+	2	0	ANTXR1	69263145	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.689000	0.61723	2.235000	0.73313	0.459000	0.35465	AAG		TCGA-IB-8127-01A-11D-2396-08	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	0	0	0	5	444	1	74	0	1.737930e-03	2	446	1	74	20		0	0	0	0	0	2	0	0.001617	5	439	1	74	20								-2.656256	1	1	0	0		1	2	2	4	2.154288	1	0.350000	3.330000	0.510910	0.090000	2.000000e-02	1.000000	0.080000	0.142828	0.090000	0	5.000000e-02	1.500000e-01
CLEC4F	165530	broad.mit.edu	37	2	71036948	71036948	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr2:71036948G>A	ENST00000272367.2	-	6	1657	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CLEC4F_ENST00000426626.1_Silent_p.I527I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F			37					CAGTGAGACCGATCCAGTAGT	0.562000													Colon(107;10 2157 6841 26035)											0							SO:0001819	synonymous_variant			ENST00000272367.2	1	1	hg19	CCDS1910.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	0	0	1	150	578	1	123	0	4.416022e-01	0	7	1	123	2		0	0	0	0	0	2	1	1.000000	149	573	0	123	2								-3.801580	1	1	121412	1	32	1	2	2	4	2.154288	1	0.350000	3.330000	0.510910	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ANKRD28	23243	broad.mit.edu	37	3	15731728	15731728	+	Splice_Site	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:15731728C>T	ENST00000399451.2	-	18	2039		c.e18-1		ANKRD28_ENST00000497037.1_Splice_Site|ANKRD28_ENST00000383777.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28			6					CATGATAGGCCTAGAAATAAA	0.318000																								0							SO:0001630	splice_region_variant			ENST00000399451.2	0	1	hg19	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451013	0.84209	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.472	0.94966	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD28	15706732	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.480000	0.81109	2.585000	0.87301	0.655000	0.94253	.		TCGA-IB-8127-01A-11D-2396-08	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	1	0	0	4	53	0	8		0	0	0	0	8	2		0	0	0	0	0	2	1	0.892791	4	53	0	8	2								-8.743280	1	1	0	0		1	0	4	4	1.801629	1	0.350000	3.330000	0.408015	0.550000	1.700000e-01	1.000000	1.000000	0.608595	0.550000	0	3.200000e-01	1
NAALADL2	254827	broad.mit.edu	37	3	174815006	174815006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:174815006C>A	ENST00000454872.1	+	2	598	c.470C>A	c.(469-471)tCa>tAa	p.S157*	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2			49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)		GCTCCATCTTCAGGAACAGTT	0.358000																								0							SO:0001587	stop_gained			ENST00000454872.1	0	1	hg19	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573879	0.86542	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.63	5.63	0.86233	.	0.321256	0.22752	N	0.056073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.1618	16.3124	0.82883	0.1327:0.8672:0.0:0.0	.	.	.	.	X	157	.	.	S	+	2	0	NAALADL2	176297700	1.000000	0.71417	0.857000	0.33713	0.752000	0.42762	3.818000	0.55678	2.803000	0.96430	0.585000	0.79938	TCA		TCGA-IB-8127-01A-11D-2396-08	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	0	0	0	8	634	0	92	0	3.681114e-02	0	21	0	92	2		0	0	0	0	0	2	1	0.989085	7	630	0	92	2								-2.506986	1	1	0	0		1	1	2	3	1.903978	1	0.350000	3.330000	0.446809	0.080000	3.000000e-02	0.160000	0.090000	0.093701	0.080000	0	5.000000e-02	1.300000e-01
SCN5A	6331	broad.mit.edu	37	3	38627422	38627422	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr3:38627422G>A	ENST00000333535.4	-	16	2696	c.2547C>T	c.(2545-2547)atC>atT	p.I849I	SCN5A_ENST00000450102.2_Silent_p.I849I|SCN5A_ENST00000451551.2_Silent_p.I849I|SCN5A_ENST00000413689.1_Silent_p.I849I|SCN5A_ENST00000423572.2_Silent_p.I849I|SCN5A_ENST00000455624.2_Silent_p.I849I|SCN5A_ENST00000443581.1_Silent_p.I849I|SCN5A_ENST00000425664.1_Silent_p.I849I|SCN5A_ENST00000449557.2_Silent_p.I849I|SCN5A_ENST00000414099.2_Silent_p.I849I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit			107	Medulloblastoma(35;0.163)			Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGATGAACACGATGATGGCTA	0.567000																								0							SO:0001819	synonymous_variant			ENST00000333535.4	1	1	hg19	CCDS46796.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	1	0	1	63	463	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	1.000000	62	460	0	83	2								-19.999760	1	1	0	0		1	0	4	4	1.801629	1	0.350000	3.330000	0.408015	0.770000	5.900000e-01	1.000000	0.740000	0.805043	0.770000	0	6.700000e-01	1
DHX15	1665	broad.mit.edu	37	4	24578266	24578266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:24578266C>T	ENST00000336812.4	-	2	263	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15			30		Breast(46;0.0503)			ATCTTTAGACCGATCTTCACG	0.418000																								0							SO:0001583	missense			ENST00000336812.4	1	1	hg19	CCDS33966.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842965	0.71488	.	.	ENSG00000109606	ENST00000336812	T	0.60920	0.15	5.59	4.74	0.60224	.	0.070853	0.56097	D	0.000027	T	0.29652	0.0740	N	0.08118	0	0.80722	D	1	P	0.43352	0.804	B	0.30316	0.114	T	0.24012	-1.0172	10	0.13853	T	0.58	-7.751	14.6282	0.68638	0.0:0.9285:0.0:0.0715	.	36	O43143	DHX15_HUMAN	Q	36	ENSP00000336741:R36Q	ENSP00000336741:R36Q	R	-	2	0	DHX15	24187364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.772000	0.68889	2.648000	0.89879	0.650000	0.86243	CGG		TCGA-IB-8127-01A-11D-2396-08	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	1	0	1	93	151	0	47	1	1	155	185	0	47	2		0	0	0	0	0	2	1	1.000000	93	149	0	46	2								-13.396250	1	1	0	0		1	1	2	3	1.936336	1	0.350000	3.330000	0.446809	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
KCTD8	386617	broad.mit.edu	37	4	44176848	44176848	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:44176848G>A	ENST00000360029.3	-	2	1664	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	p.R461C(1)		41					TGCCATTGGCGTTTGCGCTCT	0.363000										HNSCC(17;0.042)														1	Substitution - Missense(1)						SO:0001583	missense			ENST00000360029.3	1	1	hg19	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948563	0.53186	.	.	ENSG00000183783	ENST00000360029	T	0.44083	0.93	4.91	4.91	0.64330	.	0.000000	0.52532	D	0.000075	T	0.50154	0.1599	N	0.24115	0.695	0.46798	D	0.999203	D	0.89917	1.0	D	0.64595	0.927	T	0.54636	-0.8264	10	0.72032	D	0.01	.	17.6253	0.88092	0.0:0.0:1.0:0.0	.	461	Q6ZWB6	KCTD8_HUMAN	C	461	ENSP00000353129:R461C	ENSP00000353129:R461C	R	-	1	0	KCTD8	43871605	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.936000	0.56568	2.699000	0.92147	0.650000	0.86243	CGC		TCGA-IB-8127-01A-11D-2396-08	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1	1	0	1	89	561	0	120	0	5.229704e-02	0	3	0	120	2		0	0	0	0	0	2	1	1.000000	89	557	0	120	2								-20.000000	1	1	121410	11	43	1	1	2	3	1.972835	1	0.350000	3.330000	0.446809	0.910000	7.400000e-01	1.000000	1.000000	0.913954	0.910000	1	8.200000e-01	1
MMRN1	22915	broad.mit.edu	37	4	90872776	90872776	+	Silent	SNP	C	C	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr4:90872776C>A	ENST00000394980.1	+	8	3458	c.3139C>A	c.(3139-3141)Cgg>Agg	p.R1047R	MMRN1_ENST00000394981.1_Silent_p.R350R|MMRN1_ENST00000264790.2_Silent_p.R1047R|MMRN1_ENST00000508372.1_Silent_p.R789R			Q13201	MMRN1_HUMAN	multimerin 1			72		Hepatocellular(203;0.114)			AAGCTGTAGTCGGCATCCGTG	0.433000																								0							SO:0001819	synonymous_variant			ENST00000394980.1	0	1	hg19	CCDS3635.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	0	0	0	8	308	0	37	0	1.407274e-01	0	23	0	37	2		0	0	0	0	0	2	1	0.989190	8	305	0	37	2								-3.730222	1	1	121382	12	38	1	1	3	4	2.072452	1	0.350000	3.330000	0.499037	0.200000	8.000000e-02	1.000000	0.190000	0.303103	0.200000	0	1.400000e-01	3.400000e-01
PCDHGA1	56114	broad.mit.edu	37	5	140712339	140712339	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140712339G>A	ENST00000517417.1	+	1	2088	c.2088G>A	c.(2086-2088)gcG>gcA	p.A696A	PCDHGA1_ENST00000378105.3_Silent_p.A696A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	p.A696A(4)		78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TGGTGGTGGCGGCGGCCGCGG	0.672000																								4	Substitution - coding silent(4)						SO:0001819	synonymous_variant			ENST00000517417.1	1	1	hg19	CCDS54922.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	1	0	1	151	997	0	137	1	5.260277e-01	5	8	0	137	2		0	0	0	0	0	2	1	1.000000	142	959	0	140	2								-2.879461	1	1	121398	2	37	1	2	2	4	2.234259	1	0.350000	3.330000	0.518519	0.990000	8.600000e-01	1.000000	1.000000	0.977311	0.990000	1	9.300000e-01	1
PCDHGA9	56107	broad.mit.edu	37	5	140783647	140783647	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:140783647C>T	ENST00000573521.1	+	1	1128	c.1128C>T	c.(1126-1128)tcC>tcT	p.S376S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9			5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		ACCGAGACTCCGGGAAGAATG	0.408000																								0							SO:0001819	synonymous_variant			ENST00000573521.1	1	1	hg19	CCDS58981.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	1	0	1	103	219	0	52	0	7.085715e-01	1	6	0	52	2		0	0	0	0	0	2	1	1.000000	101	218	0	52	2								-9.703541	1	1	120866	1	28	1	2	2	4	2.234259	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
TNIP1	10318	broad.mit.edu	37	5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1			23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		TTCATGGACCGGAAATGCTGG	0.552000																								0							SO:0001583	missense			ENST00000389378.2	0	1	hg19	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337020	0.81801	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T	0.61859	2.23;2.26;2.26;2.26;2.26;2.26;2.26;0.07;2.3	5.47	5.47	0.80525	.	0.106709	0.64402	D	0.000004	T	0.77572	0.4150	M	0.83223	2.63	0.44780	D	0.997788	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;0.998;0.999	T	0.80797	-0.1222	10	0.87932	D	0	-33.1055	14.6438	0.68745	0.0:0.0:0.8538:0.1461	.	325;279;279;325;325;325;325	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	W	272;325;325;325;282;282;287;325;325;325;325;325;282	ENSP00000429891:R272W;ENSP00000374029:R325W;ENSP00000317891:R325W;ENSP00000428243:R325W;ENSP00000428187:R325W;ENSP00000430760:R325W;ENSP00000430971:R325W;ENSP00000429912:R325W;ENSP00000431105:R325W	ENSP00000317891:R325W	R	-	1	2	TNIP1	150402679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.685000	0.54678	2.561000	0.86390	0.650000	0.86243	CGG		TCGA-IB-8127-01A-11D-2396-08	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	0	0	0	9	1761	0	303	1	7.962232e-01	2	578	0	303	2		0	0	0	0	0	2	1	0.994002	9	1749	0	300	2								-1.820619	0	1	121412	3	37	1	2	2	4	2.234259	1	0.350000	3.330000	0.518519	0.030000	0	0.080000	0.040000	0.041968	0.030000	0	1.000000e-02	6.000000e-02
GABRB2	2561	broad.mit.edu	37	5	160721244	160721244	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr5:160721244C>T	ENST00000393959.1	-	10	1382	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	GABRB2_ENST00000517901.1_Silent_p.A360A|GABRB2_ENST00000517547.1_Silent_p.A263A|GABRB2_ENST00000353437.6_Silent_p.A423A|GABRB2_ENST00000274547.2_Silent_p.A461A|GABRB2_ENST00000520240.1_Silent_p.A423A			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2			26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTCTTTTGCGCCACATGTC	0.517000																								0							SO:0001819	synonymous_variant			ENST00000393959.1	1	1	hg19	CCDS4355.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	1	0	1	115	301	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	114	296	0	79	2								-20.000000	1	1	121412	20	44	1	2	2	4	2.234259	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
IRF4	3662	broad.mit.edu	37	6	401644	401644	+	Silent	SNP	C	C	T	rs113364548	by1000genomes	TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr6:401644C>T	ENST00000380956.4	+	7	1092	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4			5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)			TGGCCCCCGACGGGCTCTATG	0.607000			T	IGH@	MM										Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0							SO:0001819	synonymous_variant			ENST00000380956.4	1	1	hg19	CCDS4469.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1	1	0	1	93	175	0	47	0	9.763307e-01	0	14	0	47	2		0	0	0	0	0	2	1	1.000000	89	172	0	44	2								-20.000000	1	1	121412	6	40	1	0	2	2	1.684488	1	0.350000	3.330000	0.350000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
PPP1R3A	5506	broad.mit.edu	37	7	113518727	113518727	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:113518727A>C	ENST00000284601.3	-	4	2488	c.2420T>G	c.(2419-2421)tTa>tGa	p.L807*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A			121					ACAAATACCTAAACGTGATTC	0.383000																								0							SO:0001587	stop_gained			ENST00000284601.3	0	1	hg19	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	34	5.312369	0.95655	.	.	ENSG00000154415	ENST00000284601	.	.	.	5.92	2.29	0.28610	.	0.536654	0.17154	N	0.184937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2057	9.3856	0.38340	0.7344:0.0:0.2656:0.0	.	.	.	.	X	807	.	ENSP00000284601:L807X	L	-	2	0	PPP1R3A	113305963	1.000000	0.71417	0.285000	0.24819	0.850000	0.48378	1.634000	0.37123	0.154000	0.19237	-0.297000	0.09499	TTA		TCGA-IB-8127-01A-11D-2396-08	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	1	0	1	136	389	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	1.000000	133	386	0	95	2								-20.000000	1	1	0	0		1	2	2	4	2.189630	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
CALN1	83698	broad.mit.edu	37	7	71252799	71252799	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr7:71252799C>T	ENST00000329008.5	-	6	919	c.621G>A	c.(619-621)ctG>ctA	p.L207L	CALN1_ENST00000405452.2_Silent_p.L207L|CALN1_ENST00000412588.1_Silent_p.L249L|CALN1_ENST00000431984.1_Silent_p.L207L|CALN1_ENST00000395275.2_Silent_p.L249L|CALN1_ENST00000395276.2_Silent_p.L207L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	p.L249L(1)|p.L207L(1)		32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)			TGGCTGCAATCAGCATGACAC	0.592000																								2	Substitution - coding silent(2)						SO:0001819	synonymous_variant			ENST00000329008.5	1	1	hg19	CCDS5541.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	1	0	1	90	242	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	89	239	0	53	2								-20.000000	1	1	0	0		1	2	2	4	2.189630	1	0.350000	3.330000	0.518519	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ENDOG	2021	broad.mit.edu	37	9	131584646	131584646	+	Silent	SNP	C	C	A	rs141194619		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:131584646C>A	ENST00000372642.4	+	3	862	c.651C>A	c.(649-651)gtC>gtA	p.V217V	C9orf114_ENST00000361256.5_3'UTR	NM_004435.2	NP_004426.2	Q14249	NUCG_HUMAN	endonuclease G								AGTACCAGGTCATCGGCAAGA	0.587000																								0							SO:0001819	synonymous_variant			ENST00000372642.4	0	1	hg19	CCDS6912.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	ENDOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054505.1	1	0	0	19	153	0	24	1	9.999978e-01	28	164	0	24	2		0	0	0	0	0	2	1	0.999993	19	153	0	24	2								-20.000000	1	1	0	0		1	2	2	4	2.120770	1	0.350000	3.330000	0.504384	0.860000	5.300000e-01	1.000000	1.000000	0.847254	0.860000	1	6.800000e-01	1
USP20	10868	broad.mit.edu	37	9	132640646	132640646	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:132640646G>A	ENST00000315480.4	+	23	2597	c.2439G>A	c.(2437-2439)tcG>tcA	p.S813S	USP20_ENST00000372429.3_Silent_p.S813S|USP20_ENST00000358355.1_Silent_p.S813S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20			11		Ovarian(14;0.00556)			CCGAGGAGTCGCCGGGCGTCA	0.607000																								0							SO:0001819	synonymous_variant			ENST00000315480.4	1	1	hg19	CCDS43892.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	1	0	1	22	67	0	15	1	9.999996e-01	19	70	0	15	2		0	0	0	0	0	2	1	1.000000	22	66	0	15	2								-20.000000	1	1	120628	3	27	1	2	2	4	2.120770	1	0.350000	3.330000	0.504384	0.990000	9.900000e-01	1.000000	1.000000	0.999901	0.990000	1	9.900000e-01	1
C9orf172	389813	broad.mit.edu	37	9	139739952	139739952	+	Silent	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:139739952C>T	ENST00000436881.1	+	1	1086	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172			9					GCTATGTCCCCGAGGAGCCCC	0.697000																								0							SO:0001819	synonymous_variant			ENST00000436881.1	0	1	hg19	CCDS48059.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	15	59	0	10	1	5.826610e-01	2	7	0	10	2		0	0	0	0	0	2	1	0.999893	14	56	0	10	2								-20.000000	1	1	0	0		1	2	2	4	2.120770	1	0.350000	3.330000	0.504384	0.990000	9.400000e-01	1.000000	1.000000	0.996087	0.990000	1	9.900000e-01	1
CACNA1B	774	broad.mit.edu	37	9	140880965	140880965	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:140880965G>A	ENST00000371372.1	+	14	2015	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A624T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A625T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A624T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A625T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit			80	all_cancers(76;0.166)			Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGGTCTTCGCCCTGCTGGG	0.597000																								0							SO:0001583	missense			ENST00000371372.1	0	1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082671	0.76528	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99719	1.1009	10	0.87932	D	0	.	17.2437	0.87021	0.0:0.0:1.0:0.0	.	624;624	B1AQK4;B1AQK6	.;.	T	624;624;624;625;625	ENSP00000360423:A624T;ENSP00000277551:A624T;ENSP00000360414:A624T;ENSP00000360408:A625T;ENSP00000360406:A625T	ENSP00000277551:A624T	A	+	1	0	CACNA1B	140000786	1.000000	0.71417	0.982000	0.44146	0.975000	0.68041	9.499000	0.97975	2.107000	0.64212	0.462000	0.41574	GCC		TCGA-IB-8127-01A-11D-2396-08	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	1	0	1	22	182	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	0.999999	22	181	0	23	2								-9.997785	1	1	0	0		1	2	2	4	2.120770	1	0.350000	3.330000	0.504384	0.830000	5.300000e-01	1.000000	1.000000	0.833704	0.830000	0	6.700000e-01	1
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	GRCh37	CM034218	CDKN2A	M	rs121913384	SO:0001587	stop_gained			ENST00000304494.5	0	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA		TCGA-IB-8127-01A-11D-2396-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	49	100	0	20	1	1	165	9	0	20	2	1	1	64	99	0	179	2	1	1.000000	45	89	0	17	2								-20.000000	1	1	0	0		1	0	2	2	1.636910	1	0.350000	3.330000	0.350000	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
LINGO2	158038	broad.mit.edu	37	9	27949236	27949236	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:27949236G>A	ENST00000379992.2	-	6	1883	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	LINGO2_ENST00000308675.3_Silent_p.S478S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2			44	Melanoma(11;0.242)	all_neural(11;2.78e-09)			CATACATCCCGCTGTCTTGAT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000379992.2	0	1	hg19	CCDS6524.1																																																																																				TCGA-IB-8127-01A-11D-2396-08	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	0	0	0	5	344	0	78		0	0	0	0	78	2		0	0	0	0	0	2	1	0.935098	5	338	0	78	2								-4.239472	1	1	121408	6	38	1	0	2	2	1.636910	1	0.350000	3.330000	0.350000	0.080000	2.000000e-02	0.180000	0.080000	0.097146	0.080000	0	5.000000e-02	1.300000e-01
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:372257C>T	ENST00000453981.1	+	18	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_ENST00000432829.2_Missense_Mutation_p.P626S|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.P161S|DOCK8_ENST00000469391.1_Missense_Mutation_p.P626S			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)			GGAAAAATTGCCACCCAACTA	0.448000																								0							SO:0001583	missense			ENST00000453981.1	0	1	hg19	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948470	0.92593	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.996;1.0	T	0.24261	-1.0165	10	0.72032	D	0.01	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	626;161;694	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	S	694;694;626;626;161	ENSP00000408464:P694S;ENSP00000394888:P626S;ENSP00000419438:P626S;ENSP00000371766:P161S	ENSP00000287364:P694S	P	+	1	0	DOCK8	362257	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.329000	0.79170	2.814000	0.96858	0.655000	0.94253	CCA		TCGA-IB-8127-01A-11D-2396-08	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	0	0	0	5	420	0	76	0	1.055717e-01	0	38	0	76	2		0	0	0	0	0	2	1	0.934722	5	412	0	76	2								-2.041525	0	1	0	0		1	0	2	2	1.636910	1	0.350000	3.330000	0.350000	0.070000	2.000000e-02	0.150000	0.070000	0.079925	0.070000	0	4.000000e-02	1.100000e-01
WNK2	65268	broad.mit.edu	37	9	96080243	96080243	+	Silent	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chr9:96080243G>A	ENST00000297954.4	+	30	6828	c.6828G>A	c.(6826-6828)ccG>ccA	p.P2276P	WNK2_ENST00000427277.2_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2			54					GCACTCAGCCGCGAGGGGGAC	0.672000																								0							SO:0001819	synonymous_variant			ENST00000297954.4	1	1	hg19																																																																																					TCGA-IB-8127-01A-11D-2396-08	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	0	0	0	68	181	0	42	1	8.436209e-01	3	8	0	42	2		0	0	0	0	0	2	1	1.000000	67	180	0	42	2								-20.000000	1	1	116238	12	41	1	2	2	4	2.120118	1	0.350000	3.330000	0.503058	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
SERPINA7	6906	broad.mit.edu	37	X	105277592	105277592	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8127-01A-11D-2396-08	TCGA-IB-8127-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f827515-ef77-4787-9d36-0df578e74dd8	d887d823-1afd-4869-bdbf-896901450ece	g.chrX:105277592G>A	ENST00000327674.4	-	4	1482	c.1147C>T	c.(1147-1149)Cct>Tct	p.P383S	SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000372563.1_Missense_Mutation_p.P383S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7			24				Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGATAATAGGGTGTAGGAAA	0.438000																								0							SO:0001583	missense			ENST00000327674.4	1	1	hg19	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246856	0.22796	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84370	-1.84;-1.84	4.9	-3.02	0.05446	Serpin domain (3);	0.262727	0.32444	N	0.006089	T	0.75686	0.3883	L	0.48174	1.505	0.09310	N	1	P	0.41188	0.741	B	0.41619	0.361	T	0.68168	-0.5480	10	0.42905	T	0.14	.	5.562	0.17150	0.3419:0.3906:0.2675:0.0	.	383	P05543	THBG_HUMAN	S	383	ENSP00000329374:P383S;ENSP00000361644:P383S	ENSP00000329374:P383S	P	-	1	0	SERPINA7	105164248	0.910000	0.30920	0.000000	0.03702	0.039000	0.13416	3.651000	0.54431	-0.590000	0.05866	0.594000	0.82650	CCT		TCGA-IB-8127-01A-11D-2396-08	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	1	0	1	586	596	0	187		0	0	0	0	187	2		0	0	0	0	0	2	1	1.000000	579	592	0	185	2								-20.000000	1	1	0	0		1	0	1	1			0.350000	3.330000	0.350000	0.990000	9.800000e-01	1.000000	1.000000	0.998096	0.990000	1	9.800000e-01	1
