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
IL4R	3566	broad.mit.edu	37	16	27367137	27367166	+	In_Frame_Del	DEL	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	GAGCCCTTCGAGCAGCACCTCCTGCTGGGC	-			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:27367137_27367166delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	ENST00000395762.2	+	8	938_967	c.679_708delGAGCCCTTCGAGCAGCACCTCCTGCTGGGC	c.(679-708)gagcccttcgagcagcacctcctgctgggcdel	p.EPFEQHLLLG227del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.EPFEQHLLLG227del|IL4R_ENST00000380922.3_In_Frame_Del_p.EPFEQHLLLG212del|IL4R_ENST00000170630.2_In_Frame_Del_p.EPFEQHLLLG227del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor			33					AGCCTACAGGGAGCCCTTCGAGCAGCACCTCCTGCTGGGCGTCAGCGTTT	0.622000																								0							SO:0001651	inframe_deletion			ENST00000395762.2	0	1	hg19	CCDS10629.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4	1	0	0	18	327	0	49	0	7.365866e-01	0	49	0	49	2	0	0	0	0	0	0		1	0.999995	38	350	0	49	2								-19.581470	1	1	0	0		1	1	2	3	2.079698	0	0.460000	1.950000	0.468556	0.230000	1.400000e-01	1.000000	0.230000	0.283417	0.230000	0	1.800000e-01	3.100000e-01
PSTK	118672	broad.mit.edu	37	10	124746879	124746879	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:124746879T>C	ENST00000368887.3	+	6	1347	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	PSTK_ENST00000497219.1_3'UTR|PSTK_ENST00000405485.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase			13		all_neural(114;0.169)|Glioma(114;0.222)			agagatgacatttaagcaaag	0.423000																								0							SO:0001583	missense			ENST00000368887.3	0	1	hg19	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	T	5.062	0.197044	0.09599	.	.	ENSG00000179988	ENST00000368887	T	0.49432	0.78	2.11	2.11	0.27256	.	0.974060	0.08343	N	0.960511	T	0.11879	0.0289	N	0.00179	-1.91	0.20638	N	0.999873	B	0.06786	0.001	B	0.10450	0.005	T	0.32375	-0.9909	10	0.07030	T	0.85	.	6.2226	0.20689	0.0:0.0:0.0:1.0	.	303	Q8IV42	PSTK_HUMAN	L	303	ENSP00000357882:F303L	ENSP00000357882:F303L	F	+	1	0	PSTK	124736869	0.000000	0.05858	0.087000	0.20705	0.903000	0.53119	0.284000	0.18864	1.227000	0.43598	0.533000	0.62120	TTT		TCGA-FB-AAQ2-01A-31D-A40W-08	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	0	0	0	4	136	0	27	0	3.367398e-02	0	8	0	27	2		0	0	0	0	0	2	1	0.886361	4	133	0	27	2								-7.313595	1	1	0	0		1	0	1	1	1.846396	1	0.460000	1.950000	0.399199	0.120000	3.000000e-02	0.260000	0.110000	0.136130	0.120000	0	7.000000e-02	1.900000e-01
GATA3	2625	broad.mit.edu	37	10	8100325	8100325	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr10:8100325G>A	ENST00000346208.3	+	3	754	c.299G>A	c.(298-300)gGc>gAc	p.G100D	GATA3_ENST00000379328.3_Missense_Mutation_p.G100D			P23771	GATA3_HUMAN	GATA binding protein 3			87					CTGGACGGCGGCAAAGCCCTG	0.677000			F, N, S		breast		HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)								Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0							SO:0001583	missense			ENST00000346208.3	0	1	hg19	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231371	0.39399	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96365	-3.99;-3.98	5.31	5.31	0.75309	.	0.194098	0.53938	D	0.000041	D	0.95242	0.8457	L	0.50333	1.59	0.45205	D	0.998212	B;B	0.29136	0.191;0.234	B;B	0.33750	0.062;0.169	D	0.93958	0.7238	10	0.59425	D	0.04	-24.0814	18.9617	0.92679	0.0:0.0:1.0:0.0	.	100;100	P23771;P23771-2	GATA3_HUMAN;.	D	100	ENSP00000368632:G100D;ENSP00000341619:G100D	ENSP00000341619:G100D	G	+	2	0	GATA3	8140331	1.000000	0.71417	0.935000	0.37517	0.204000	0.24138	7.816000	0.86201	2.469000	0.83416	0.561000	0.74099	GGC		TCGA-FB-AAQ2-01A-31D-A40W-08	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	0	0	0	5	457	0	79	0	2.749956e-02	0	19	0	79	2		0	0	0	0	0	2	1	0.925253	5	425	0	75	2								-2.451450	0	1	0	0		1	0	1	1	1.846396	1	0.460000	1.950000	0.399199	0.040000	1.000000e-02	0.090000	0.040000	0.050350	0.040000	0	2.000000e-02	7.000000e-02
ZC3H12C	85463	broad.mit.edu	37	11	110007605	110007605	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:110007605C>T	ENST00000278590.3	+	2	290	c.239C>T	c.(238-240)gCg>gTg	p.A80V	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.A49V|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A81V	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	p.A80V(1)		37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)			GAAAAAGAGGCGTCTGAAGAG	0.448000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000278590.3	1	1	hg19	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	t	8.666	0.901758	0.17760	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.30981	1.51;1.51;1.51	5.62	5.62	0.85841	.	.	.	.	.	T	0.07234	0.0183	N	0.00289	-1.7	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31530	-0.9940	9	0.11182	T	0.66	-1.0609	6.3914	0.21589	0.0:0.2884:0.0:0.7116	.	81;80;80	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	V	80;81;49	ENSP00000278590:A80V;ENSP00000431821:A81V;ENSP00000413094:A49V	ENSP00000278590:A80V	A	+	2	0	ZC3H12C	109512815	0.021000	0.18746	1.000000	0.80357	0.098000	0.18820	0.260000	0.18424	0.966000	0.38159	-0.269000	0.10298	GCG		TCGA-FB-AAQ2-01A-31D-A40W-08	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	1	0	1	27	111	0	29	1	2.641232e-01	4	1	0	29	2		0	0	0	0	0	2	1	1.000000	27	109	0	28	2								-20.000000	1	1	120826	3	32	1	1	2	3	2.040000	0	0.460000	1.950000	0.462473	0.850000	5.900000e-01	1.000000	1.000000	0.852095	0.850000	1	7.100000e-01	1
OR8B2	26595	broad.mit.edu	37	11	124253123	124253123	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr11:124253123C>T	ENST00000375013.2	-	1	135	c.117G>A	c.(115-117)atG>atA	p.M39I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2			23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)			GGTTGCCTACCATGGTGACAA	0.418000																								0							SO:0001583	missense			ENST00000375013.2	1	1	hg19	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	11.01	1.512128	0.27036	0.0	3.49E-4	ENSG00000204293	ENST00000375013	T	0.00524	6.82	4.2	1.17	0.20885	.	0.871881	0.10283	N	0.693231	T	0.00210	0.0006	N	0.01405	-0.89	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42965	-0.9420	10	0.54805	T	0.06	.	1.6651	0.02800	0.1587:0.3523:0.3088:0.1803	.	39	Q96RD0	OR8B2_HUMAN	I	39	ENSP00000364152:M39I	ENSP00000364152:M39I	M	-	3	0	OR8B2	123758333	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	-0.293000	0.08320	0.151000	0.19162	0.400000	0.26472	ATG		TCGA-FB-AAQ2-01A-31D-A40W-08	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	0	0	0	37	787	1	190		0	0	0	1	190	2		0	0	0	0	0	2	1	0.999230	35	762	1	201	15								-2.456333	0	1	121412	10	49	1	1	2	3	2.040000	0	0.460000	1.950000	0.462473	0.190000	1.300000e-01	0.280000	0.200000	0.208490	0.190000	0	1.600000e-01	2.300000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	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-FB-AAQ2-01A-31D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	63	145	0	60	1	9.791257e-01	11	6	0	60	2	1	1	140	467	0	513	2	1	1.000000	62	142	0	59	2								-20.000000	1	1	121404	2	44	1	2	4	6	2.453125	1	0.460000	1.950000	0.557667	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	9.900000e-01	1
LEPREL2	10536	broad.mit.edu	37	12	6939687	6939687	+	RNA	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:6939687G>A	ENST00000538102.1	+	0	40				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000251761.8_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2			10				L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGGGGCTGCGAGCCAGGGGG	0.642000																								0											ENST00000538102.1	0	1	hg19																																																																																					TCGA-FB-AAQ2-01A-31D-A40W-08	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	0	0	0	6	54	0	13	0	5.580892e-01	0	17	0	13	2		0	0	0	0	0	2	1	0.965862	5	54	0	13	2								-12.220260	1	1	120502	10	32	1	1	3	4	2.984419	1	0.460000	1.950000	0.624217	0.680000	2.800000e-01	1.000000	1.000000	0.691933	0.680000	0	4.500000e-01	9.900000e-01
C1RL	51279	broad.mit.edu	37	12	7249506	7249506	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:7249506C>T	ENST00000266542.4	-	6	1037	c.945G>A	c.(943-945)ggG>ggA	p.G315G	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like			16					CAGGGTGGTTCCCCAGTTTCA	0.552000																								0							SO:0001819	synonymous_variant			ENST00000266542.4	0	1	hg19	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124736	0.06795	.	.	ENSG00000139178	ENST00000534950	.	.	.	4.98	-9.95	0.00446	.	.	.	.	.	T	0.42063	0.1186	.	.	.	0.46185	D	0.998912	.	.	.	.	.	.	T	0.49835	-0.8897	4	.	.	.	.	5.2161	0.15344	0.0767:0.1221:0.3579:0.4432	.	.	.	.	K	148	.	.	E	-	1	0	C1RL	7140648	0.000000	0.05858	0.000000	0.03702	0.641000	0.38312	-2.582000	0.00905	-2.698000	0.00400	-0.350000	0.07774	GAA		TCGA-FB-AAQ2-01A-31D-A40W-08	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	0	0	0	9	465	0	72	1	5.661677e-01	7	87	0	72	2		0	0	0	0	0	2	1	0.993475	9	451	0	70	2								-2.673493	1	1	0	0		1	1	3	4	2.984419	1	0.460000	1.950000	0.624217	0.120000	5.000000e-02	1.000000	0.120000	0.164091	0.120000	0	8.000000e-02	1.800000e-01
ACSS3	79611	broad.mit.edu	37	12	81647110	81647110	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr12:81647110G>A	ENST00000548058.1	+	14	2654	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	ACSS3_ENST00000548324.1_Missense_Mutation_p.A264T|ACSS3_ENST00000261206.3_Missense_Mutation_p.A581T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3			51					TGGTACCGTGGCAGACTGTGC	0.373000																								0							SO:0001583	missense			ENST00000548058.1	1	1	hg19	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395361	0.62066	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.62105	0.05;0.05;0.05	6.0	4.17	0.49024	AMP-dependent synthetase/ligase (1);	0.383935	0.28809	N	0.014067	T	0.63522	0.2518	M	0.81179	2.53	0.37366	D	0.911421	B;B	0.32526	0.374;0.0	B;B	0.29267	0.1;0.003	T	0.69614	-0.5098	10	0.72032	D	0.01	-0.5583	13.4013	0.60885	0.1288:0.0:0.8712:0.0	.	264;582	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	T	582;581;264	ENSP00000449535:A582T;ENSP00000261206:A581T;ENSP00000448965:A264T	ENSP00000261206:A581T	A	+	1	0	ACSS3	80171241	1.000000	0.71417	0.279000	0.24732	0.981000	0.71138	5.191000	0.65110	0.869000	0.35703	-0.261000	0.10672	GCA		TCGA-FB-AAQ2-01A-31D-A40W-08	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	1	0	1	138	528	0	159	0	4.354520e-02	0	2	0	159	2		0	0	0	0	0	2	1	1.000000	138	520	0	158	2								-20.000000	1	1	0	0		1	0	1	1	1.701434	1	0.460000	1.950000	0.315068	0.700000	6.000000e-01	0.810000	0.710000	0.710950	0.700000	0	6.500000e-01	7.600000e-01
SPERT	220082	broad.mit.edu	37	13	46287859	46287859	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:46287859C>T	ENST00000310521.1	+	3	779	c.699C>T	c.(697-699)caC>caT	p.H233H	SPERT_ENST00000378966.3_Silent_p.H197H	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated			15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)		AGAAGGACCACGTCGCCCTGC	0.682000																								0							SO:0001819	synonymous_variant			ENST00000310521.1	1	1	hg19	CCDS9399.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	1	0	1	29	145	0	23		0	0	0	0	23	2		0	0	0	0	0	2	1	1.000000	29	141	0	23	2								-20.000000	1	1	121378	1	27	1	1	2	3	2.521774	1	0.460000	1.950000	0.560976	0.890000	6.200000e-01	1.000000	1.000000	0.881291	0.890000	1	7.500000e-01	1
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5			27					GTTGAGAATGCGGTTCAAAAA	0.378000																								0							SO:0001583	missense			ENST00000490680.1	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		TCGA-FB-AAQ2-01A-31D-A40W-08	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	0	0	5	538	0	89	0	7.946496e-01	0	315	0	89	2		0	0	0	0	0	2	1	0.936276	5	533	0	86	2								-1.999313	0	1	121412	1	26	1	1	2	3	2.521774	1	0.460000	1.950000	0.560976	0.050000	0	0.110000	0.060000	0.058057	0.050000	0	2.000000e-02	8.000000e-02
ZFYVE26	23503	broad.mit.edu	37	14	68233050	68233050	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr14:68233050C>T	ENST00000347230.4	-	32	6043	c.5905G>A	c.(5905-5907)Gag>Aag	p.E1969K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1969K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26			94					GCATCCACCTCTGGGTTGGTG	0.577000																								0							SO:0001583	missense			ENST00000347230.4	1	1	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573986	0.96553	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.34667	1.5;1.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.66654	-0.5869	10	0.72032	D	0.01	-18.437	19.8574	0.96764	0.0:1.0:0.0:0.0	.	1969;1969	G3V2D8;Q68DK2	.;ZFY26_HUMAN	K	1969;1948;1969	ENSP00000251119:E1969K;ENSP00000450603:E1969K	ENSP00000251119:E1969K	E	-	1	0	ZFYVE26	67302803	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.771000	0.85420	2.704000	0.92352	0.555000	0.69702	GAG		TCGA-FB-AAQ2-01A-31D-A40W-08	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	1	114	383	0	65	1	9.602587e-01	5	15	0	65	2		0	0	0	0	0	2	1	1.000000	112	375	0	63	2								-4.227237	1	1	0	0		1	1	2	3	2.067251	0	0.460000	1.950000	0.466139	0.990000	8.400000e-01	1.000000	1.000000	0.973325	0.990000	1	9.200000e-01	1
PLA2G4D	283748	broad.mit.edu	37	15	42362977	42362977	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:42362977G>A	ENST00000290472.3	-	18	2075	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)			27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)			CGGCCTGGCCGGAACATGGAG	0.657000																								0							SO:0001583	missense			ENST00000290472.3	0	1	hg19	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711719	0.48517	.	.	ENSG00000159337	ENST00000290472	T	0.16073	2.37	4.46	3.54	0.40534	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.216636	0.29884	N	0.010944	T	0.25680	0.0625	M	0.89715	3.055	0.42428	D	0.992664	B	0.17268	0.021	B	0.06405	0.002	T	0.14008	-1.0488	10	0.66056	D	0.02	-11.7079	7.7234	0.28746	0.0883:0.0:0.7119:0.1998	.	661	Q86XP0	PA24D_HUMAN	W	661	ENSP00000290472:R661W	ENSP00000290472:R661W	R	-	1	2	PLA2G4D	40150269	0.961000	0.32948	0.990000	0.47175	0.986000	0.74619	0.984000	0.29565	1.224000	0.43551	0.573000	0.79308	CGG		TCGA-FB-AAQ2-01A-31D-A40W-08	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	1	0	0	15	30	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.999941	15	28	0	9	2								-20.000000	1	1	121196	2	17	1	0	1	1	1.895790	1	0.460000	1.950000	0.417098	0.990000	8.200000e-01	1.000000	1.000000	0.987303	0.990000	1	9.900000e-01	1
UBL7	84993	broad.mit.edu	37	15	74743165	74743165	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:74743165C>A	ENST00000567435.1	-	6	971	c.508G>T	c.(508-510)Gct>Tct	p.A170S	UBL7_ENST00000564488.1_Missense_Mutation_p.A170S|UBL7_ENST00000565335.1_Missense_Mutation_p.A170S|UBL7_ENST00000361351.4_Missense_Mutation_p.A170S|UBL7_ENST00000395081.2_Missense_Mutation_p.A170S			Q96S82	UBL7_HUMAN	ubiquitin-like 7			9					TTGGGATCAGCGAAGACAGAG	0.502000																								0							SO:0001583	missense			ENST00000567435.1	1	1	hg19	CCDS10263.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864125	0.51482	.	.	ENSG00000138629	ENST00000361351;ENST00000395081	T;T	0.43294	0.95;0.95	5.48	5.48	0.80851	.	0.169066	0.53938	D	0.000049	T	0.25754	0.0627	L	0.29908	0.895	0.42144	D	0.991528	P;P	0.44429	0.835;0.495	B;B	0.34824	0.19;0.145	T	0.07328	-1.0778	10	0.12103	T	0.63	-23.3972	12.6718	0.56872	0.0:0.9246:0.0:0.0754	.	210;170	D3DW56;Q96S82	.;UBL7_HUMAN	S	170	ENSP00000354883:A170S;ENSP00000378518:A170S	ENSP00000354883:A170S	A	-	1	0	UBL7	72530218	0.998000	0.40836	0.958000	0.39756	0.987000	0.75469	3.364000	0.52328	2.568000	0.86640	0.655000	0.94253	GCT		TCGA-FB-AAQ2-01A-31D-A40W-08	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	0	0	0	14	348	1	103	0	3.730031e-01	4	161	1	103	8		0	0	0	0	0	2	1	0.638465	14	344	1	101	13								-3.837178	1	1	0	0		1	0	1	1	1.895790	1	0.460000	1.950000	0.417098	0.150000	8.000000e-02	0.250000	0.150000	0.165343	0.150000	0	1.100000e-01	2.100000e-01
RASGRF1	5923	broad.mit.edu	37	15	79350772	79350772	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:79350772G>T	ENST00000419573.3	-	3	709	c.435C>A	c.(433-435)caC>caA	p.H145Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H145Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1			71					TCTGCAGCAGGTGCAGGTATT	0.562000																								0							SO:0001583	missense			ENST00000419573.3	1	1	hg19	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578942	0.65878	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.40756	1.02	4.59	3.65	0.41850	.	0.060814	0.64402	D	0.000003	T	0.56514	0.1990	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73708	0.958;0.958;0.958;0.981	T	0.58907	-0.7553	10	0.87932	D	0	.	7.329	0.26571	0.1963:0.0:0.8037:0.0	.	145;145;145;145	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	145	ENSP00000405963:H145Q	ENSP00000378224:H145Q	H	-	3	2	RASGRF1	77137827	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.502000	0.53332	2.366000	0.80165	0.542000	0.68232	CAC		TCGA-FB-AAQ2-01A-31D-A40W-08	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	1	0	0	38	258	0	41	0	8.690766e-02	0	4	0	41	2		0	0	0	0	0	2	1	1.000000	38	249	0	41	2								-17.033330	1	1	0	0		1	0	1	1	1.895790	1	0.460000	1.950000	0.417098	0.510000	3.700000e-01	0.670000	0.520000	0.524651	0.510000	0	4.400000e-01	6.000000e-01
FAM169B	283777	broad.mit.edu	37	15	98995216	98995216	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr15:98995216C>T	ENST00000558256.1	-	5	457	c.208G>A	c.(208-210)Ggt>Agt	p.G70S	FAM169B_ENST00000332908.4_Missense_Mutation_p.G70S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B			7					TAGCATGCACCGGTGCCATCA	0.592000																								0							SO:0001583	missense			ENST00000558256.1	1	1	hg19	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	2.568	-0.300196	0.05532	.	.	ENSG00000185087	ENST00000332908	T	0.12039	2.72	4.53	1.29	0.21616	.	0.284924	0.33980	N	0.004373	T	0.05456	0.0144	L	0.27053	0.805	0.09310	N	1	P	0.40638	0.725	B	0.31290	0.127	T	0.33497	-0.9866	10	0.12766	T	0.61	-2.8104	4.1212	0.10106	0.1846:0.5603:0.0:0.2552	.	70	Q8N8A8	F169B_HUMAN	S	70	ENSP00000332615:G70S	ENSP00000332615:G70S	G	-	1	0	FAM169B	96812739	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	0.072000	0.14617	0.515000	0.28320	0.650000	0.86243	GGT		TCGA-FB-AAQ2-01A-31D-A40W-08	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	1	0	0	38	119	0	22		0	0	0	0	22	2		0	0	0	0	0	2	1	1.000000	38	116	0	21	2								-4.201373	1	1	121048	56	44	1	0	1	1	1.895790	1	0.460000	1.950000	0.417098	0.960000	7.200000e-01	1.000000	1.000000	0.934561	0.960000	1	8.300000e-01	1
IRX6	79190	broad.mit.edu	37	16	55362807	55362807	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:55362807G>A	ENST00000290552.7	+	5	2249	c.917G>A	c.(916-918)cGc>cAc	p.R306H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6			33					CGATTGGAGCGCAGGGAGTGC	0.662000																								0							SO:0001583	missense			ENST00000290552.7	1	1	hg19	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704584	0.68615	.	.	ENSG00000159387	ENST00000290552	D	0.89939	-2.59	5.27	4.11	0.48088	.	0.618078	0.16748	N	0.201144	T	0.80407	0.4617	N	0.24115	0.695	0.09310	N	0.999997	D	0.56287	0.975	B	0.42062	0.374	T	0.72600	-0.4244	10	0.40728	T	0.16	-15.6593	9.6842	0.40089	0.111:0.0:0.889:0.0	.	306	P78412	IRX6_HUMAN	H	306	ENSP00000290552:R306H	ENSP00000290552:R306H	R	+	2	0	IRX6	53920308	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	0.202000	0.17295	2.463000	0.83235	0.462000	0.41574	CGC		TCGA-FB-AAQ2-01A-31D-A40W-08	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	1	0	1	77	275	0	76		0	0	0	0	76	2		0	0	0	0	0	2	1	1.000000	73	267	0	75	2								-20.000000	1	1	121374	1	38	1	1	2	3	2.080562	0	0.460000	1.950000	0.468556	0.970000	7.800000e-01	1.000000	1.000000	0.947423	0.970000	1	8.700000e-01	1
WDR90	197335	broad.mit.edu	37	16	701015	701015	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr16:701015G>A	ENST00000293879.4	+	6	580	c.580G>A	c.(580-582)Gca>Aca	p.A194T	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Missense_Mutation_p.A194T			Q96KV7	WDR90_HUMAN	WD repeat domain 90			37		Hepatocellular(780;0.0218)			GGCCCAGTGGGCAAAGCTGCC	0.607000																								0							SO:0001583	missense			ENST00000293879.4	0	1	hg19	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708198	0.30322	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.29917	1.59;1.55	4.95	0.105	0.14535	.	0.781301	0.10905	U	0.621191	T	0.20820	0.0501	L	0.41415	1.275	0.09310	N	1	B;B;B	0.23377	0.018;0.001;0.084	B;B;B	0.18561	0.008;0.007;0.022	T	0.24225	-1.0166	10	0.51188	T	0.08	.	3.5213	0.07743	0.163:0.1287:0.5759:0.1324	.	194;194;194	Q96KV7;C9JMK1;Q96KV7-3	WDR90_HUMAN;.;.	T	194	ENSP00000448122:A194T;ENSP00000293879:A194T	ENSP00000293879:A194T	A	+	1	0	WDR90	641016	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.073000	0.14640	-0.197000	0.10350	-1.020000	0.02445	GCA		TCGA-FB-AAQ2-01A-31D-A40W-08	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	0	0	0	6	490	0	95	0	3.153814e-02	0	19	0	95	2		0	0	0	0	0	2	1	0.964060	6	485	0	91	2								-2.689949	1	1	0	0		1	1	2	3	2.079698	0	0.460000	1.950000	0.468556	0.050000	1.000000e-02	1.000000	0.060000	0.114274	0.050000	0	3.000000e-02	9.000000e-02
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TCTCTCCCAGGACAGGCACAA	0.552000		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	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781	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	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		TCGA-FB-AAQ2-01A-31D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	43	75	0	30	1	1	95	15	0	30	2	1	1	348	944	0	1203	2	1	1.000000	39	72	0	29	2								-20.000000	1	1	0	0		1	0	1	1	1.628294	1	0.460000	1.950000	0.300790	0.960000	8.100000e-01	1.000000	1.000000	0.951672	0.960000	1	8.900000e-01	1
CCDC40	55036	broad.mit.edu	37	17	78039368	78039368	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr17:78039368C>T	ENST00000397545.4	+	10	1552	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	CCDC40_ENST00000374877.3_Missense_Mutation_p.R509C|CCDC40_ENST00000269318.5_Missense_Mutation_p.R509C|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	p.R509G(2)		38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		CATGAAGCACCGCGACGAGGC	0.692000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000397545.4	1	1	hg19	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560125	0.45590	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.85171	0.02;-1.95;0.17	5.14	5.14	0.70334	.	.	.	.	.	D	0.92639	0.7661	M	0.84846	2.72	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93632	0.6957	9	0.87932	D	0	-17.7899	14.2557	0.66051	0.1497:0.8503:0.0:0.0	.	509;292	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	C	509	ENSP00000364011:R509C;ENSP00000269318:R509C;ENSP00000380679:R509C	ENSP00000269318:R509C	R	+	1	0	CCDC40	75653963	0.993000	0.37304	0.038000	0.18304	0.025000	0.11179	3.700000	0.54786	2.390000	0.81377	0.655000	0.94253	CGC		TCGA-FB-AAQ2-01A-31D-A40W-08	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	1	0	0	24	348	0	81	0	2.509171e-02	0	4	0	81	2		0	0	0	0	0	2	1	1.000000	24	343	0	79	2								-2.578481	1	1	121050	4	38	1	1	2	3	2.041021	0	0.460000	1.950000	0.462473	0.280000	1.800000e-01	0.430000	0.280000	0.298000	0.280000	0	2.300000e-01	3.500000e-01
RNF152	220441	broad.mit.edu	37	18	59483165	59483165	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr18:59483165C>T	ENST00000312828.3	-	2	1631	c.532G>A	c.(532-534)Gtc>Atc	p.V178I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152			17		Colorectal(73;0.186)			AAGACCAAGACGCAAGCCACC	0.592000																								0							SO:0001583	missense			ENST00000312828.3	1	1	hg19	CCDS11978.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338338	0.41398	.	.	ENSG00000176641	ENST00000312828	D	0.84146	-1.81	4.69	4.69	0.59074	.	0.069218	0.56097	D	0.000024	T	0.75817	0.3901	N	0.17082	0.46	0.47862	D	0.999534	B	0.20550	0.046	B	0.14023	0.01	T	0.70733	-0.4791	10	0.32370	T	0.25	-0.1111	17.8094	0.88611	0.0:1.0:0.0:0.0	.	178	Q8N8N0	RN152_HUMAN	I	178	ENSP00000316628:V178I	ENSP00000316628:V178I	V	-	1	0	RNF152	57634145	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.036000	0.64164	2.461000	0.83175	0.563000	0.77884	GTC		TCGA-FB-AAQ2-01A-31D-A40W-08	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256180.1	1	0	1	87	244	0	73	1	2.865318e-01	3	1	0	73	2		0	0	0	0	0	2	1	1.000000	86	240	0	73	2								-20.000000	1	1	121412	3	36	1	0	1	1	1.634360	1	0.460000	1.950000	0.306982	0.870000	7.200000e-01	1.000000	1.000000	0.881595	0.870000	1	8.000000e-01	9.600000e-01
ZNF536	9745	broad.mit.edu	37	19	30935540	30935540	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:30935540G>A	ENST00000355537.3	+	2	1218	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536			182	Esophageal squamous(110;0.0834)				TCAGCCAGGCGTGGTTCCTCA	0.652000																								0							SO:0001819	synonymous_variant			ENST00000355537.3	1	1	hg19	CCDS32984.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	1	0	1	166	610	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1.000000	165	607	0	128	2								-20.000000	1	1	121410	14	44	1	1	2	3	2.057369	0	0.460000	1.950000	0.464923	0.930000	8.100000e-01	1.000000	1.000000	0.935802	0.930000	1	8.700000e-01	1
RYR1	6261	broad.mit.edu	37	19	39016037	39016037	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:39016037G>A	ENST00000359596.3	+	71	10521	c.10521G>A	c.(10519-10521)acG>acA	p.T3507T	RYR1_ENST00000360985.3_Silent_p.T3507T|AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000355481.4_Silent_p.T3502T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTGTGCAGACGTCACTGATCG	0.627000																								0							SO:0001819	synonymous_variant			ENST00000359596.3	1	1	hg19	CCDS33011.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	88	270	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	1.000000	86	263	0	45	2								-20.000000	1	1	121412	5	41	1	1	2	3	2.057369	0	0.460000	1.950000	0.464923	0.990000	8.800000e-01	1.000000	1.000000	0.989177	0.990000	1	9.700000e-01	1
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	p.A94T(1)		16					CCACTGTATGCGGCCCCTGGG	0.488000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000221954.2	0	1	hg19	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		TCGA-FB-AAQ2-01A-31D-A40W-08	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	0	0	0	6	723	1	186	0	0	0	1	1	186	2		0	0	0	0	0	2	1	0.963695	6	714	0	183	2								-1.550370	0	1	121412	4	41	1	1	2	3	2.105113	0	0.460000	1.950000	0.470951	0.030000	0	1.000000	0.040000	0.111762	0.030000	0	1.000000e-02	7.000000e-02
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000253435.7_Silent_p.G165G	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	p.G165G(1)		15		Prostate(69;0.0199)			TGGCTTTGGGGACCTGTTTCA	0.493000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000598265.1	0	1	hg19	CCDS59393.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	0	0	0	8	665	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	0.988474	7	652	0	143	2								-2.319452	0	1	0	0		1	1	2	3	2.105113	0	0.460000	1.950000	0.470951	0.050000	1.000000e-02	1.000000	0.060000	0.127564	0.050000	0	3.000000e-02	9.000000e-02
PRKD2	25865	broad.mit.edu	37	19	47193872	47193872	+	Silent	SNP	T	T	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:47193872T>C	ENST00000291281.4	-	13	2019	c.1794A>G	c.(1792-1794)gaA>gaG	p.E598E	PRKD2_ENST00000595515.1_Silent_p.E598E|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000433867.1_Silent_p.E598E|PRKD2_ENST00000601806.1_Silent_p.E441E|PRKD2_ENST00000600194.1_Silent_p.E441E			Q9BZL6	KPCD2_HUMAN	protein kinase D2			41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)			GAATGGCCACTTCATTCCGGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000291281.4	1	1	hg19	CCDS12689.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	1	0	1	63	308	0	107	1	9.999987e-01	34	65	0	107	2		0	0	0	0	0	2	1	1.000000	63	306	0	106	2								-20.000000	1	1	0	0		1	1	2	3	2.105113	0	0.460000	1.950000	0.470951	0.760000	5.900000e-01	1.000000	0.750000	0.776535	0.760000	0	6.700000e-01	8.700000e-01
SULT2B1	6820	broad.mit.edu	37	19	49079301	49079301	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:49079301C>T	ENST00000201586.2	+	2	353	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	SULT2B1_ENST00000323090.4_Missense_Mutation_p.R44W	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1			11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			CCAAGATGTGCGGGACGACGA	0.632000																								0							SO:0001583	missense			ENST00000201586.2	1	1	hg19	CCDS12723.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413766	0.25465	0.0	1.16E-4	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.02421	4.3;4.3	4.61	1.17	0.20885	.	0.895653	0.09103	N	0.848233	T	0.01387	0.0045	N	0.14661	0.345	0.25224	N	0.989883	B;P	0.41008	0.412;0.735	B;B	0.20955	0.026;0.032	T	0.46541	-0.9184	10	0.87932	D	0	.	3.1284	0.06415	0.2122:0.5639:0.0:0.2239	.	44;59	O00204-2;O00204	.;ST2B1_HUMAN	W	59;44	ENSP00000201586:R59W;ENSP00000312880:R44W	ENSP00000201586:R59W	R	+	1	2	SULT2B1	53771113	0.078000	0.21339	0.973000	0.42090	0.141000	0.21300	-0.040000	0.12104	1.061000	0.40601	0.561000	0.74099	CGG		TCGA-FB-AAQ2-01A-31D-A40W-08	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1	1	0	1	117	381	0	80	1	1	37	46	0	80	2		0	0	0	0	0	2	1	1.000000	112	369	0	77	2								-4.668788	1	0	0	0		1	1	2	3	2.105113	0	0.460000	1.950000	0.470951	0.990000	8.800000e-01	1.000000	1.000000	0.985575	0.990000	1	9.600000e-01	1
NUP62	23636	broad.mit.edu	37	19	50412073	50412073	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr19:50412073G>A	ENST00000596217.1	-	2	2879	c.992C>T	c.(991-993)gCg>gTg	p.A331V	NUP62_ENST00000597723.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.A331V|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A331V|NUP62_ENST00000597029.1_Missense_Mutation_p.A331V|NUP62_ENST00000422090.2_Missense_Mutation_p.A331V			P37198	NUP62_HUMAN	nucleoporin 62kDa			19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)			CTCCAGCTGCGCGTAGGTCAT	0.682000																								0							SO:0001583	missense			ENST00000596217.1	1	1	hg19	CCDS12788.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373391	0.42105	0.0	1.16E-4	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.76709	-1.04;-1.04;-1.04	5.2	4.14	0.48551	Nucleoporin, NSP1-like, C-terminal (2);	0.075566	0.51477	U	0.000094	T	0.74596	0.3737	L	0.55481	1.735	0.49213	D	0.99976	P	0.42584	0.784	B	0.42495	0.389	T	0.74368	-0.3688	9	.	.	.	-9.4439	13.7291	0.62776	0.0:0.1556:0.8444:0.0	.	331	P37198	NUP62_HUMAN	V	331	ENSP00000305503:A331V;ENSP00000407331:A331V;ENSP00000387991:A331V	.	A	-	2	0	NUP62	55103885	1.000000	0.71417	0.491000	0.27477	0.408000	0.30992	5.070000	0.64376	1.530000	0.49136	0.655000	0.94253	GCG		TCGA-FB-AAQ2-01A-31D-A40W-08	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	1	0	1	94	405	0	97	1	9.999438e-01	24	39	0	97	2		0	0	0	0	0	2	1	1.000000	90	398	0	94	2								-20.000000	1	1	121378	1	31	1	1	2	3	2.105113	0	0.460000	1.950000	0.470951	0.840000	6.800000e-01	1.000000	0.840000	0.850589	0.840000	0	7.600000e-01	9.400000e-01
GSTM5	2949	broad.mit.edu	37	1	110256173	110256173	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:110256173G>A	ENST00000256593.3	+	4	303	c.245G>A	c.(244-246)cGc>cAc	p.R82H	GSTM5_ENST00000369812.5_Missense_Mutation_p.R101H|GSTM5_ENST00000369813.1_Missense_Mutation_p.R41H|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5			21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Glutathione(DB00143)	TACATTGCCCGCAAGCACAAC	0.557000																								0							SO:0001583	missense			ENST00000256593.3	0	1	hg19	CCDS811.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140693	0.77775	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.08634	3.07;3.07;3.07	4.42	3.51	0.40186	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.20170	0.0485	M	0.90252	3.1	0.45261	D	0.998267	D;D	0.69078	0.997;0.995	D;P	0.65010	0.931;0.866	T	0.02925	-1.1093	10	0.66056	D	0.02	.	9.8076	0.40803	0.0983:0.0:0.9017:0.0	.	41;82	Q5T8Q9;P46439	.;GSTM5_HUMAN	H	82;41;101	ENSP00000256593:R82H;ENSP00000358828:R41H;ENSP00000358827:R101H	ENSP00000256593:R82H	R	+	2	0	GSTM5	110057696	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	4.262000	0.58847	1.211000	0.43351	0.597000	0.82753	CGC		TCGA-FB-AAQ2-01A-31D-A40W-08	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	0	0	0	7	841	0	167	0	1.446995e-03	0	6	0	167	2		0	0	0	0	0	2	0	0.019291	7	831	1	166	18								-1.827667	0	1	121412	1	44	1	1	2	3	2.109455	0	0.460000	1.950000	0.472141	0.030000	0	1.000000	0.040000	0.119151	0.030000	0	2.000000e-02	7.000000e-02
OR6K3	391114	broad.mit.edu	37	1	158686997	158686997	+	Silent	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:158686997C>G	ENST00000368146.1	-	1	956	c.957G>C	c.(955-957)ctG>ctC	p.L319L	OR6K3_ENST00000368145.1_Silent_p.L303L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3			41	all_hematologic(112;0.0378)				GAAGACAGAACAGTTTTTTAA	0.388000																								0							SO:0001819	synonymous_variant			ENST00000368146.1	0	1	hg19																																																																																					TCGA-FB-AAQ2-01A-31D-A40W-08	OR6K3-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	6	629	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.963703	6	621	0	106	2								-2.800664	1	1	0	0		1	1	2	3	2.109430	0	0.460000	1.950000	0.472141	0.040000	0	1.000000	0.040000	0.125653	0.040000	0	2.000000e-02	8.000000e-02
ATP1A2	477	broad.mit.edu	37	1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide			69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		CCTGGTGAAGAACCTGGAGGC	0.587000																								0							SO:0001583	missense			ENST00000361216.3	0	1	hg19	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994443	0.93167	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88896	-2.44;-2.44	4.77	4.77	0.60923	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93459	0.6809	10	0.87932	D	0	.	13.5914	0.61961	1.0:0.0:0.0:0.0	.	203;358;258;358	B4DHD7;B1AKY9;F5GXJ7;P50993	.;.;.;AT1A2_HUMAN	D	203;358;358;61	ENSP00000354490:N358D;ENSP00000376066:N358D	ENSP00000354490:N358D	N	+	1	0	ATP1A2	158365120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.264000	0.95635	1.912000	0.55364	0.459000	0.35465	AAC		TCGA-FB-AAQ2-01A-31D-A40W-08	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	0	0	0	13	393	0	83		0	0	0	0	83	2		0	0	0	0	0	2	1	0.999535	13	391	0	82	2								-3.611855	1	1	0	0		1	1	2	3	2.109430	0	0.460000	1.950000	0.472141	0.140000	7.000000e-02	1.000000	0.140000	0.220792	0.140000	0	1.000000e-01	2.100000e-01
ATP1A4	480	broad.mit.edu	37	1	160151577	160151577	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:160151577G>A	ENST00000368081.4	+	19	3311	c.2840G>A	c.(2839-2841)cGc>cAc	p.R947H	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.R83H	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide			75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		AAGACTCGCCGCAACTCACTT	0.527000																								0							SO:0001583	missense			ENST00000368081.4	0	1	hg19	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273977	0.59649	.	.	ENSG00000132681	ENST00000368081;ENST00000470705	D;D	0.89050	-2.46;-2.46	4.16	4.16	0.48862	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94978	0.8375	M	0.93898	3.47	0.53688	D	0.999979	D	0.89917	1.0	D	0.69824	0.966	D	0.95874	0.8893	10	0.87932	D	0	.	14.3343	0.66578	0.0:0.0:1.0:0.0	.	947	Q13733	AT1A4_HUMAN	H	947;83	ENSP00000357060:R947H;ENSP00000433094:R83H	ENSP00000357060:R947H	R	+	2	0	ATP1A4	158418201	0.992000	0.36948	0.712000	0.30502	0.048000	0.14542	5.550000	0.67268	2.315000	0.78130	0.455000	0.32223	CGC		TCGA-FB-AAQ2-01A-31D-A40W-08	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	0	0	0	8	454	0	74		0	0	0	0	74	2		0	0	0	0	0	2	1	0.988514	9	442	0	72	2								-2.023284	0	1	121412	2	32	1	1	2	3	2.109430	0	0.460000	1.950000	0.472141	0.080000	3.000000e-02	1.000000	0.080000	0.160002	0.080000	0	5.000000e-02	1.300000e-01
ASTN1	460	broad.mit.edu	37	1	176845741	176845741	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:176845741C>T	ENST00000367654.3	-	21	3630	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132Q|ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	p.R1132L(1)		153					CCTGGAGCGCCGTCCTGTGTT	0.572000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000367654.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.786407	0.96937	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16196	2.36;2.78;2.78;2.36	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.16041	-1.0416	10	0.72032	D	0.01	-17.3769	18.3051	0.90177	0.0:1.0:0.0:0.0	.	1132;1132	O14525-2;B1AJS1	.;.	Q	1132;1132;1140;1132;1132	ENSP00000356629:R1132Q;ENSP00000354536:R1132Q;ENSP00000356626:R1140Q;ENSP00000395041:R1132Q	ENSP00000354536:R1132Q	R	-	2	0	ASTN1	175112364	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.390000	0.79816	2.400000	0.81607	0.655000	0.94253	CGG		TCGA-FB-AAQ2-01A-31D-A40W-08	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	43	145	0	39	0	5.456048e-02	0	2	0	39	2		0	0	0	0	0	2	1	1.000000	42	142	0	39	2								-3.665143	1	1	121412	1	32	1	1	2	3	2.109430	0	0.460000	1.950000	0.472141	0.990000	7.700000e-01	1.000000	1.000000	0.960936	0.990000	1	8.900000e-01	1
RCC2	55920	broad.mit.edu	37	1	17740096	17740096	+	Missense_Mutation	SNP	G	G	C			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:17740096G>C	ENST00000375436.4	-	9	1331	c.1144C>G	c.(1144-1146)Cct>Gct	p.P382A	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Missense_Mutation_p.P382A	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2			17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)			CCACGCCCAGGGAAGTCAAAC	0.582000																								0							SO:0001583	missense			ENST00000375436.4	0	1	hg19	CCDS181.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877573	0.91664	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.79749	-1.3;-1.3	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83124	0.5186	L	0.35341	1.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76342	-0.2994	10	0.07482	T	0.82	-25.2313	18.1015	0.89507	0.0:0.0:1.0:0.0	.	382	Q9P258	RCC2_HUMAN	A	382	ENSP00000364585:P382A;ENSP00000364582:P382A	ENSP00000364582:P382A	P	-	1	0	RCC2	17612683	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	9.831000	0.99420	2.687000	0.91594	0.655000	0.94253	CCT		TCGA-FB-AAQ2-01A-31D-A40W-08	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	0	0	0	6	505	1	79	0	3.271760e-03	0	224	1	79	11		0	0	0	0	0	2	0	0.002262	6	497	1	79	21								-2.877995	1	1	0	0		1	2	2	4	2.152078	1	0.460000	1.950000	0.492672	0.050000	1.000000e-02	1.000000	0.050000	0.167612	0.050000	0	3.000000e-02	1.100000e-01
SSBP3	23648	broad.mit.edu	37	1	54708959	54708959	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:54708959C>T	ENST00000371320.3	-	10	1075	c.665G>A	c.(664-666)gGc>gAc	p.G222D	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.G202D|SSBP3_ENST00000371319.3_Missense_Mutation_p.G195D|SSBP3_ENST00000417664.2_Missense_Mutation_p.G112D	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3			11					TGGTCTCATGCCGCTGCCGTA	0.562000																								0							SO:0001583	missense			ENST00000371320.3	0	1	hg19	CCDS591.1	.	.	.	.	.	.	.	.	.	.	c	25.8	4.676502	0.88445	.	.	ENSG00000157216	ENST00000417664;ENST00000371320;ENST00000371319;ENST00000357475;ENST00000444533;ENST00000525990	.	.	.	3.94	3.94	0.45596	.	0.000000	0.85682	U	0.000000	T	0.78717	0.4327	M	0.75085	2.285	0.80722	D	1	D;P;P	0.89917	1.0;0.951;0.866	D;P;P	0.97110	1.0;0.743;0.686	T	0.81534	-0.0889	9	0.59425	D	0.04	-1.6526	17.3039	0.87189	0.0:1.0:0.0:0.0	.	195;202;222	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	D	112;222;195;202;53;85	.	ENSP00000350067:G202D	G	-	2	0	SSBP3	54481547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.969000	0.76092	2.493000	0.84123	0.479000	0.44913	GGC		TCGA-FB-AAQ2-01A-31D-A40W-08	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1	0	0	0	7	1099	0	154	0	2.299315e-01	0	125	0	154	2		0	0	0	0	0	2	1	0.978091	5	1064	0	150	2								-1.724745	0	1	0	0		1						0.460000	1.950000									0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:74507071C>T	ENST00000395089.1	-	6	1543	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R515H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	p.R515H(1)		73					AACTAATAAACGCTCTGAAGC	0.363000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000395089.1	1	1	hg19	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383714	0.11524	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.10382	2.88;2.88	5.86	2.52	0.30459	.	.	.	.	.	T	0.02047	0.0064	L	0.29908	0.895	0.09310	N	1	B	0.34255	0.445	B	0.20184	0.028	T	0.44452	-0.9327	9	0.35671	T	0.21	.	8.4238	0.32716	0.0:0.7631:0.0:0.2369	.	515	A6PVS8	LRIQ3_HUMAN	H	515	ENSP00000378524:R515H;ENSP00000346414:R515H	ENSP00000346414:R515H	R	-	2	0	LRRIQ3	74279659	0.273000	0.24181	0.016000	0.15963	0.029000	0.11900	0.609000	0.24238	0.295000	0.22570	0.650000	0.86243	CGT		TCGA-FB-AAQ2-01A-31D-A40W-08	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	1	0	1	109	492	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	1.000000	108	486	0	118	2								-20.000000	1	1	120766	32	47	1	1	2	3	2.109455	0	0.460000	1.950000	0.472141	0.810000	6.700000e-01	1.000000	0.800000	0.825143	0.810000	0	7.300000e-01	9.100000e-01
SLC25A33	84275	broad.mit.edu	37	1	9642431	9642431	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr1:9642431C>T	ENST00000302692.6	+	7	1048	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33			9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)			CCTGGTGTTCCGGGAAGAAGG	0.488000																								0							SO:0001583	missense			ENST00000302692.6	0	1	hg19	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307851	0.60305	.	.	ENSG00000171612	ENST00000302692	T	0.80738	-1.41	5.98	5.98	0.97165	Mitochondrial carrier domain (2);	0.329961	0.32852	N	0.005573	D	0.86896	0.6043	H	0.95950	3.745	0.47949	D	0.999552	B	0.33413	0.411	B	0.33254	0.16	D	0.88291	0.2943	10	0.87932	D	0	-12.7821	14.3012	0.66355	0.1483:0.8517:0.0:0.0	.	280	Q9BSK2	S2533_HUMAN	W	280	ENSP00000306328:R280W	ENSP00000306328:R280W	R	+	1	2	SLC25A33	9565018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.812000	0.55628	2.835000	0.97688	0.650000	0.86243	CGG		TCGA-FB-AAQ2-01A-31D-A40W-08	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2	0	0	0	4	235	0	41	0	3.577612e-01	0	62	0	41	2		0	0	0	0	0	2	1	0.886092	4	230	0	41	2								-2.986550	1	1	121412	5	36	1	2	2	4	2.140883	0	0.460000	1.950000	0.490470	0.090000	2.000000e-02	1.000000	0.070000	0.189462	0.090000	0	5.000000e-02	1.700000e-01
ZNF831	128611	broad.mit.edu	37	20	57769239	57769239	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr20:57769239G>A	ENST00000371030.2	+	1	3165	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831			125	all_lung(29;0.0085)				CCTCCTCCCCGCCCACTCCAA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000371030.2	0	1	hg19	CCDS42894.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	1	0	0	8	93	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	0.987580	8	87	0	17	2								-3.144579	1	1	120994	1	26	1	1	2	3	2.073867	0	0.460000	1.950000	0.467351	0.370000	1.700000e-01	1.000000	0.350000	0.409922	0.370000	0	2.500000e-01	5.300000e-01
NPHP1	4867	broad.mit.edu	37	2	110922260	110922260	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:110922260C>T	ENST00000393272.3	-	8	873	c.776G>A	c.(775-777)gGc>gAc	p.G259D	NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.G259D	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)			24					ACAGAAGATGCCCGCCTCTGA	0.458000																								0							SO:0001583	missense			ENST00000393272.3	0	1	hg19	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	C	9.500	1.102886	0.20632	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.64438	-0.1;-0.06	4.59	3.72	0.42706	.	0.678739	0.14107	N	0.341008	T	0.49321	0.1550	N	0.22421	0.69	0.19300	N	0.99997	P;P	0.44946	0.761;0.846	B;B	0.43194	0.234;0.411	T	0.39333	-0.9619	10	0.66056	D	0.02	-3.7449	8.7413	0.34558	0.0:0.8968:0.0:0.1032	.	259;259	O15259;O15259-4	NPHP1_HUMAN;.	D	259	ENSP00000313169:G259D;ENSP00000376953:G259D	ENSP00000313169:G259D	G	-	2	0	NPHP1	110279549	0.009000	0.17119	0.004000	0.12327	0.017000	0.09413	1.848000	0.39309	1.180000	0.42898	-0.219000	0.12488	GGC		TCGA-FB-AAQ2-01A-31D-A40W-08	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	0	0	0	6	747	0	139	0	0	0	1	0	139	2		0	0	0	0	0	2	1	0.951448	6	669	0	124	2								-1.801325	0	1	0	0		1	1	2	3	2.077827	0	0.460000	1.950000	0.467351	0.030000	0	1.000000	0.040000	0.085496	0.030000	0	1.000000e-02	6.000000e-02
TPO	7173	broad.mit.edu	37	2	1426896	1426896	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:1426896G>T	ENST00000345913.4	+	3	265	c.174G>T	c.(172-174)atG>atT	p.M58I	TPO_ENST00000382201.3_Missense_Mutation_p.M58I|TPO_ENST00000382269.3_Missense_Mutation_p.M58I|TPO_ENST00000539820.1_Missense_Mutation_p.M58I|TPO_ENST00000382198.1_Missense_Mutation_p.M58I|TPO_ENST00000337415.3_Missense_Mutation_p.M58I|TPO_ENST00000329066.4_Missense_Mutation_p.M58I|TPO_ENST00000349624.3_Missense_Mutation_p.M58I|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.M58I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGCCACGATGCAGAGGTGAG	0.597000																								0							SO:0001583	missense			ENST00000345913.4	1	1	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.377425	0.24944	.	.	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198	T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	3.72	3.72	0.42706	.	0.282519	0.34652	N	0.003786	T	0.40909	0.1136	L	0.50919	1.6	0.09310	N	1	B;B;B;B;B	0.33807	0.008;0.426;0.264;0.008;0.006	B;B;B;B;B	0.25405	0.007;0.06;0.033;0.007;0.004	T	0.30563	-0.9974	10	0.29301	T	0.29	-29.3298	11.2868	0.49226	0.0:0.0:1.0:0.0	.	58;58;58;58;58	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	I	58	ENSP00000371704:M58I;ENSP00000337263:M58I;ENSP00000318820:M58I;ENSP00000263886:M58I;ENSP00000332044:M58I;ENSP00000444840:M58I;ENSP00000329869:M58I;ENSP00000371636:M58I;ENSP00000390994:M58I;ENSP00000371633:M58I	ENSP00000329869:M58I	M	+	3	0	TPO	1405903	0.251000	0.23961	0.039000	0.18376	0.038000	0.13279	1.497000	0.35649	2.347000	0.79759	0.467000	0.42956	ATG		TCGA-FB-AAQ2-01A-31D-A40W-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1	31	119	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	1.000000	31	118	0	24	2								-20.000000	1	1	0	0		1	1	2	3	2.077827	0	0.460000	1.950000	0.467351	0.910000	6.500000e-01	1.000000	1.000000	0.898491	0.910000	1	7.700000e-01	1
ZNF385B	151126	broad.mit.edu	37	2	180308122	180308122	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:180308122G>A	ENST00000410066.1	-	10	1874	c.1271C>T	c.(1270-1272)gCg>gTg	p.A424V	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A322V|ZNF385B_ENST00000409343.1_Missense_Mutation_p.A348V|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A322V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B			26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		CACGGCTGCCGCCGCTGCGAG	0.607000													Colon(155;204 2491 32774 51842)											0							SO:0001583	missense			ENST00000410066.1	1	1	hg19	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998461	0.54147	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.35973	1.28;1.3;1.28;1.3	5.49	5.49	0.81192	.	0.257134	0.40728	N	0.001021	T	0.47248	0.1435	L	0.39147	1.195	0.58432	D	0.999999	D;D	0.65815	0.995;0.976	P;P	0.54815	0.761;0.488	T	0.43442	-0.9391	10	0.62326	D	0.03	-20.3691	19.3766	0.94512	0.0:0.0:1.0:0.0	.	424;348	Q569K4;Q569K4-2	Z385B_HUMAN;.	V	424;322;348;322	ENSP00000386845:A424V;ENSP00000338225:A322V;ENSP00000386379:A348V;ENSP00000386507:A322V	ENSP00000338225:A322V	A	-	2	0	ZNF385B	180016367	1.000000	0.71417	0.160000	0.22671	0.013000	0.08279	7.203000	0.77864	2.565000	0.86533	0.561000	0.74099	GCG		TCGA-FB-AAQ2-01A-31D-A40W-08	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	1	0	1	18	69	0	21	0	0	0	1	0	21	2		0	0	0	0	0	2	1	0.999990	18	67	0	20	2								-20.000000	1	1	0	0		1	1	2	3	2.077827	0	0.460000	1.950000	0.467351	0.920000	5.800000e-01	1.000000	1.000000	0.888388	0.920000	1	7.400000e-01	1
LTBP1	4052	broad.mit.edu	37	2	33572565	33572565	+	Missense_Mutation	SNP	C	C	T	rs144093447		TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr2:33572565C>T	ENST00000404816.2	+	26	4341	c.3988C>T	c.(3988-3990)Cgg>Tgg	p.R1330W	LTBP1_ENST00000272273.5_Missense_Mutation_p.R228W|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1004W|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1005W|LTBP1_ENST00000404525.1_Missense_Mutation_p.R951W|LTBP1_ENST00000402934.1_Missense_Mutation_p.R951W|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1331W|LTBP1_ENST00000418533.2_Missense_Mutation_p.R962W			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	p.R1331R(1)		108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)			GTGCCGCTCCCGGACCTCCAC	0.557000																								1	Substitution - coding silent(1)						SO:0001583	missense			ENST00000404816.2	0	1	hg19	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788854	0.90367	2.27E-4	0.0	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273;ENST00000422669	D;D;T;T;T;T;T;D;D	0.85339	-1.53;-1.52;-1.46;-1.41;-1.45;-1.42;-1.42;-1.97;-1.61	5.19	5.19	0.71726	.	.	.	.	.	D	0.90896	0.7139	L	0.55213	1.73	0.53005	D	0.999965	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.972;0.971;0.987;0.999	P;P;D;P;P;P;P	0.75484	0.895;0.794;0.986;0.742;0.685;0.768;0.899	D	0.91362	0.5112	9	0.66056	D	0.02	.	19.0846	0.93198	0.0:1.0:0.0:0.0	.	228;1330;962;951;1004;1005;1331	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	W	1330;1331;1005;962;951;951;1004;228;166	ENSP00000386043:R1330W;ENSP00000346467:R1331W;ENSP00000374653:R1005W;ENSP00000393057:R962W;ENSP00000384373:R951W;ENSP00000385359:R951W;ENSP00000384091:R1004W;ENSP00000272273:R228W;ENSP00000395211:R166W	ENSP00000272273:R228W	R	+	1	2	LTBP1	33426069	0.493000	0.26035	0.536000	0.28039	0.799000	0.45148	2.319000	0.43788	2.594000	0.87642	0.561000	0.74099	CGG		TCGA-FB-AAQ2-01A-31D-A40W-08	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	0	0	0	7	333	1	44	0	4.187404e-03	1	70	1	44	7		0	0	0	0	0	2	0	0.001795	7	328	1	42	23								-2.360295	0	1	121412	8	43	1	1	2	3	2.077827	0	0.460000	1.950000	0.467351	0.090000	3.000000e-02	1.000000	0.090000	0.144900	0.090000	0	6.000000e-02	1.500000e-01
KALRN	8997	broad.mit.edu	37	3	123813705	123813705	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:123813705C>G	ENST00000240874.3	+	1	178	c.21C>G	c.(19-21)gaC>gaG	p.D7E	KALRN_ENST00000460856.1_Missense_Mutation_p.D7E|KALRN_ENST00000477496.1_3'UTR|KALRN_ENST00000360013.3_Missense_Mutation_p.D7E	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase			83					GCTTCTGGGACCAGTGGTATC	0.557000																								0							SO:0001583	missense			ENST00000240874.3	1	1	hg19	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	c	14.72	2.619680	0.46736	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.59772	0.78;0.71;0.24	3.7	2.81	0.32909	.	0.724489	0.11133	U	0.596093	T	0.40767	0.1130	N	0.08118	0	0.80722	D	1	P;P;P	0.41597	0.643;0.643;0.756	B;B;P	0.49752	0.417;0.417;0.621	T	0.31558	-0.9939	10	0.02654	T	1	.	8.5829	0.33640	0.2295:0.7705:0.0:0.0	.	7;7;7	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	E	7	ENSP00000418611:D7E;ENSP00000240874:D7E;ENSP00000353109:D7E	ENSP00000240874:D7E	D	+	3	2	KALRN	125296395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.530000	0.23036	1.118000	0.41863	0.486000	0.48141	GAC		TCGA-FB-AAQ2-01A-31D-A40W-08	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	0	0	1	46	165	1	36		0	0	0	1	36	2	1	1	89	339	0	332	2	1	0.999958	45	164	1	36	18								-20.000000	1	1	0	0		1	1	2	3	2.068481	0	0.460000	1.950000	0.466139	0.960000	7.200000e-01	1.000000	1.000000	0.933336	0.960000	1	8.300000e-01	1
RASA2	5922	broad.mit.edu	37	3	141292025	141292025	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:141292025A>G	ENST00000452898.1	+	13	1356	c.1321A>G	c.(1321-1323)Att>Gtt	p.I441V	RASA2_ENST00000286364.3_Missense_Mutation_p.I441V	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2			34					AATCGATCCTATTAAATTGAA	0.264000																								0							SO:0001583	missense			ENST00000452898.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	A	1.433	-0.569702	0.03910	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.79141	-1.24;-1.24	5.48	2.98	0.34508	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.209202	0.42682	N	0.000671	T	0.51398	0.1672	N	0.03194	-0.395	0.29030	N	0.885756	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.15484	0.013;0.006;0.003;0.006	T	0.42716	-0.9435	10	0.25106	T	0.35	.	7.8427	0.29408	0.692:0.2346:0.0734:0.0	.	33;441;441;441	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	V	441;441;33	ENSP00000286364:I441V;ENSP00000391677:I441V	ENSP00000286364:I441V	I	+	1	0	RASA2	142774715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.229000	0.42990	1.041000	0.40125	0.533000	0.62120	ATT		TCGA-FB-AAQ2-01A-31D-A40W-08	RASA2-201	KNOWN	basic	protein_coding	protein_coding		1	0	1	54	212	0	79	1	9.420178e-01	9	12	0	79	2		0	0	0	0	0	2	1	1.000000	54	210	0	79	2								-20.000000	1	1	0	0		1	1	2	3	2.068481	0	0.460000	1.950000	0.466139	0.890000	6.900000e-01	1.000000	1.000000	0.892065	0.890000	1	7.800000e-01	1
SETD5	55209	broad.mit.edu	37	3	9506122	9506122	+	Silent	SNP	A	A	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr3:9506122A>G	ENST00000406341.1	+	17	2680	c.2490A>G	c.(2488-2490)ccA>ccG	p.P830P	SETD5_ENST00000402466.1_Silent_p.P732P|SETD5_ENST00000402198.1_Silent_p.P830P|SETD5_ENST00000302463.6_Silent_p.P732P|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Silent_p.P849P			Q9C0A6	SETD5_HUMAN	SET domain containing 5			47	Medulloblastoma(99;0.227)				TGTTGAGCCCATTAAAGAAAT	0.428000																								0							SO:0001819	synonymous_variant			ENST00000406341.1	1	1	hg19	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.249061	0.22880	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.78	3.28	0.37604	.	.	.	.	.	T	0.54464	0.1860	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45381	-0.9265	4	.	.	.	-10.4749	5.9389	0.19181	0.4756:0.1792:0.0:0.3452	.	.	.	.	V	498;142	.	.	I	+	1	0	SETD5	9481122	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.507000	0.22675	0.386000	0.24997	0.533000	0.62120	ATT		TCGA-FB-AAQ2-01A-31D-A40W-08	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	1	0	1	198	638	0	146	1	9.999202e-01	20	26	0	146	2		0	0	0	0	0	2	1	1.000000	196	629	0	144	2								-20.000000	1	1	0	0		1	1	2	3	2.063797	0	0.460000	1.950000	0.466139	0.990000	9.100000e-01	1.000000	1.000000	0.990642	0.990000	1	9.700000e-01	1
TET2	54790	broad.mit.edu	37	4	106155430	106155430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:106155430A>T	ENST00000540549.1	+	3	1191	c.331A>T	c.(331-333)Aaa>Taa	p.K111*	TET2_ENST00000380013.4_Nonsense_Mutation_p.K111*|TET2_ENST00000413648.2_Nonsense_Mutation_p.K111*|TET2_ENST00000305737.2_Nonsense_Mutation_p.K111*|TET2_ENST00000513237.1_Nonsense_Mutation_p.K132*|TET2_ENST00000394764.1_Nonsense_Mutation_p.K111*|TET2_ENST00000545826.1_Nonsense_Mutation_p.K111*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	p.L107fs*8(1)		1314		Myeloproliferative disorder(5;0.0393)			TCAGATCAAGAAATTGAAACA	0.413000			Mis N, F		MDS										Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)						SO:0001587	stop_gained			ENST00000540549.1	0	1	hg19	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	35	5.499172	0.96355	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.51	5.51	0.81932	.	0.464604	0.16713	N	0.202570	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6604	0.77182	1.0:0.0:0.0:0.0	.	.	.	.	X	111;111;111;132;111;111;111;111	.	ENSP00000265149:K111X	K	+	1	0	TET2	106374879	1.000000	0.71417	0.891000	0.34965	0.970000	0.65996	6.405000	0.73272	2.095000	0.63458	0.528000	0.53228	AAA		TCGA-FB-AAQ2-01A-31D-A40W-08	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	0	0	0	6	244	1	58	0	1.639057e-02	0	7	1	58	2		0	0	0	0	0	2	0	0.032484	6	240	1	58	15								-7.841932	1	1	0	0		1	0	1	1	1.895516	1	0.460000	1.950000	0.409772	0.090000	3.000000e-02	0.200000	0.100000	0.109863	0.090000	0	6.000000e-02	1.500000e-01
PROL1	58503	broad.mit.edu	37	4	71275677	71275677	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:71275677G>A	ENST00000399575.2	+	3	806	c.632G>A	c.(631-633)cGt>cAt	p.R211H		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1			15		all_hematologic(202;0.196)			CTCGCCAACCGTCCTCACACA	0.448000																								0							SO:0001583	missense			ENST00000399575.2	0	1	hg19	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361243	0.41801	0.0	2.39E-4	ENSG00000171199	ENST00000399575	T	0.42131	0.98	3.08	1.33	0.21861	.	.	.	.	.	T	0.18718	0.0449	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.08055	0.003	T	0.15206	-1.0445	9	0.44086	T	0.13	.	3.3539	0.07162	0.0:0.5226:0.2206:0.2569	.	211	Q99935	PROL1_HUMAN	H	211	ENSP00000382485:R211H	ENSP00000382485:R211H	R	+	2	0	PROL1	71310266	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.417000	0.07088	0.045000	0.15804	-0.187000	0.12897	CGT		TCGA-FB-AAQ2-01A-31D-A40W-08	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	0	0	0	6	408	0	64		0	0	0	0	64	2		0	0	0	0	0	2	1	0.963628	6	402	0	62	2								-2.486083	0	1	121002	17	45	1	0	1	1	1.895516	1	0.460000	1.950000	0.409772	0.050000	1.000000e-02	0.120000	0.060000	0.066713	0.050000	0	3.000000e-02	9.000000e-02
DSPP	1834	broad.mit.edu	37	4	88534264	88534264	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr4:88534264G>A	ENST00000282478.7	+	3	959	c.926G>A	c.(925-927)gGc>gAc	p.G309D	DSPP_ENST00000399271.1_Missense_Mutation_p.G309D|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein			47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)			GACCCTGAAGGCAAAGAAGAT	0.438000																								0							SO:0001583	missense			ENST00000282478.7	0	1	hg19	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	5.743	0.321511	0.10845	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87809	-2.3;-2.3	4.54	-3.71	0.04424	.	.	.	.	.	T	0.74898	0.3777	L	0.34521	1.04	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.59721	-0.7401	9	0.05959	T	0.93	1.6285	10.5668	0.45177	0.2505:0.1385:0.6109:0.0	.	309	Q9NZW4	DSPP_HUMAN	D	309	ENSP00000382213:G309D;ENSP00000282478:G309D	ENSP00000282478:G309D	G	+	2	0	DSPP	88753288	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.014000	0.12656	-0.930000	0.03752	-0.484000	0.04775	GGC		TCGA-FB-AAQ2-01A-31D-A40W-08	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	0	0	0	4	132	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.891506	4	132	0	18	2								-3.535246	1	1	0	0		1	0	1	1	1.895516	1	0.460000	1.950000	0.409772	0.120000	4.000000e-02	0.270000	0.120000	0.142610	0.120000	0	7.000000e-02	2.000000e-01
DNAH5	1767	broad.mit.edu	37	5	13900472	13900472	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:13900472G>A	ENST00000265104.4	-	15	2206	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5			378	Lung NSC(4;0.00476)				CCCTGTGCCTGGAGCCTTCAC	0.413000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000265104.4	1	1	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365928	0.61513	.	.	ENSG00000039139	ENST00000265104	T	0.55413	0.52	5.5	5.5	0.81552	Dynein heavy chain, domain-1 (1);	0.108809	0.64402	D	0.000006	T	0.67363	0.2885	M	0.85542	2.76	0.80722	D	1	B	0.31655	0.334	B	0.41174	0.349	T	0.67998	-0.5525	10	0.44086	T	0.13	.	19.3805	0.94530	0.0:0.0:1.0:0.0	.	701	Q8TE73	DYH5_HUMAN	L	701	ENSP00000265104:P701L	ENSP00000265104:P701L	P	-	2	0	DNAH5	13953472	1.000000	0.71417	0.900000	0.35374	0.939000	0.58152	7.508000	0.81686	2.583000	0.87209	0.650000	0.86243	CCA		TCGA-FB-AAQ2-01A-31D-A40W-08	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	1	0	1	69	239	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	69	236	0	56	2								-4.084364	1	1	0	0		1	1	2	3	2.084407	0	0.460000	1.950000	0.468556	0.990000	7.900000e-01	1.000000	1.000000	0.957588	0.990000	1	8.800000e-01	1
GABRA6	2559	broad.mit.edu	37	5	161128572	161128572	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:161128572C>T	ENST00000274545.5	+	9	1588	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	GABRA6_ENST00000523217.1_Silent_p.S375S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	p.S385S(1)		57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTCATCTTCCGAGGCCAATA	0.453000										TCGA Ovarian(5;0.080)														1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000274545.5	1	1	hg19	CCDS4356.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2	1	0	1	94	317	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1.000000	92	315	0	88	2								-3.714679	1	1	0	0		1	1	2	3	2.084407	0	0.460000	1.950000	0.468556	0.990000	8.300000e-01	1.000000	1.000000	0.971615	0.990000	1	9.200000e-01	1
ADAMTS16	170690	broad.mit.edu	37	5	5239387	5239387	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:5239387C>T	ENST00000274181.7	+	15	2416	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16			107					CCACACCAACCGTGAGTACTT	0.512000																								0							SO:0001630	splice_region_variant			ENST00000274181.7	0	1	hg19	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	40	8.165790	0.98686	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	.	.	.	5.85	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.5469	0.76108	0.0:0.8611:0.1389:0.0	.	.	.	.	X	760	.	ENSP00000274181:Q760X	Q	+	1	0	ADAMTS16	5292387	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	2.676000	0.46883	1.410000	0.46936	0.655000	0.94253	CAG		TCGA-FB-AAQ2-01A-31D-A40W-08	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	0	0	101	344	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	100	332	0	86	2								-3.481176	1	1	120848	3	38	1	1	2	3	2.084407	0	0.460000	1.950000	0.468556	0.990000	8.300000e-01	1.000000	1.000000	0.969545	0.990000	1	9.100000e-01	1
TTC37	9652	broad.mit.edu	37	5	94803623	94803623	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr5:94803623G>A	ENST00000358746.2	-	42	4865	c.4567C>T	c.(4567-4569)Cgt>Tgt	p.R1523C		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37			47					AGGTACCAACGTGCAGTTGAT	0.358000																								0							SO:0001583	missense			ENST00000358746.2	1	1	hg19	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737379	0.89482	.	.	ENSG00000198677	ENST00000358746	D	0.81659	-1.52	5.27	5.27	0.74061	.	0.073499	0.64402	D	0.000001	D	0.88540	0.6464	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.89541	0.3792	10	0.87932	D	0	.	18.4885	0.90838	0.0:0.0:1.0:0.0	.	1523	Q6PGP7	TTC37_HUMAN	C	1523	ENSP00000351596:R1523C	ENSP00000351596:R1523C	R	-	1	0	TTC37	94829379	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.660000	0.61511	2.471000	0.83476	0.561000	0.74099	CGT		TCGA-FB-AAQ2-01A-31D-A40W-08	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	1	0	0	14	201	0	53	1	9.992495e-01	7	172	0	53	2		0	0	0	0	0	2	1	0.999785	14	201	0	52	2								-5.689277	1	1	121408	2	32	1	1	2	3	2.084407	0	0.460000	1.950000	0.468556	0.290000	1.600000e-01	1.000000	0.290000	0.342592	0.290000	0	2.200000e-01	4.000000e-01
WNT2	7472	broad.mit.edu	37	7	116960785	116960785	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:116960785C>A	ENST00000265441.3	-	2	445	c.146G>T	c.(145-147)aGc>aTc	p.S49I	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2			31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)		CCGCTGGCTGCTCACCAGGCC	0.592000																								0							SO:0001583	missense			ENST00000265441.3	1	1	hg19	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831442	0.71258	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76578	-1.03;-1.03	5.42	5.42	0.78866	.	0.040486	0.85682	D	0.000000	T	0.77691	0.4168	M	0.72894	2.215	0.44123	D	0.996904	P	0.44776	0.843	B	0.41917	0.37	T	0.79743	-0.1675	10	0.49607	T	0.09	.	14.2281	0.65873	0.0:0.851:0.149:0.0	.	49	P09544	WNT2_HUMAN	I	49	ENSP00000265441:S49I;ENSP00000419466:S49I	ENSP00000265441:S49I	S	-	2	0	WNT2	116748021	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.573000	0.23699	2.691000	0.91804	0.655000	0.94253	AGC		TCGA-FB-AAQ2-01A-31D-A40W-08	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	1	0	1	18	74	0	13	0	0	0	1	0	13	2		0	0	0	0	0	2	1	0.999987	17	71	0	13	2								-20.000000	1	1	0	0		1	1	2	3	2.066335	0	0.460000	1.950000	0.466139	0.870000	5.500000e-01	1.000000	1.000000	0.855480	0.870000	1	6.900000e-01	1
CUL1	8454	broad.mit.edu	37	7	148427298	148427298	+	Silent	SNP	C	C	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:148427298C>A	ENST00000325222.4	+	2	363	c.84C>A	c.(82-84)atC>atA	p.I28I	CUL1_ENST00000602748.1_Silent_p.I28I|CUL1_ENST00000409469.1_Silent_p.I28I|AC005229.1_ENST00000578165.1_RNA	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1			40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)		GAGCCGGCATCCAGCAGGTGT	0.547000																								0							SO:0001819	synonymous_variant			ENST00000325222.4	1	1	hg19	CCDS34772.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	1	0	0	22	376	0	55	1	9.101935e-01	5	68	0	55	2		0	0	0	0	0	2	1	0.999999	21	372	0	53	2								-19.999900	1	1	0	0		1	1	2	3	2.066335	0	0.460000	1.950000	0.466139	0.240000	1.500000e-01	1.000000	0.240000	0.280549	0.240000	0	1.900000e-01	3.100000e-01
ABCB4	5244	broad.mit.edu	37	7	87069091	87069091	+	Silent	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr7:87069091G>A	ENST00000265723.4	-	14	1734	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	ABCB4_ENST00000358400.3_Silent_p.I541I|ABCB4_ENST00000453593.1_Silent_p.I541I|ABCB4_ENST00000545634.1_Silent_p.I541I|ABCB4_ENST00000359206.3_Silent_p.I541I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4			77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)			Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCAATGGCGATCCTCTGCT	0.532000																								0							SO:0001819	synonymous_variant			ENST00000265723.4	0	1	hg19	CCDS5606.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	0	0	0	6	403	0	82		0	0	0	0	82	2		0	0	0	0	0	2	1	0.961597	6	390	0	81	2								-2.888738	1	1	121412	2	38	1	1	2	3	2.066335	0	0.460000	1.950000	0.466139	0.060000	2.000000e-02	1.000000	0.060000	0.109845	0.060000	0	4.000000e-02	1.100000e-01
KCNQ3	3786	broad.mit.edu	37	8	133150166	133150166	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:133150166C>T	ENST00000388996.4	-	12	2086	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D436N|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D556N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3			70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)	Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GAAAGCATGTCGAGATGCCCG	0.453000																								0							SO:0001583	missense			ENST00000388996.4	1	1	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507800	0.96386	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99758	-6.65;-6.65;-6.65	5.46	5.46	0.80206	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98336	1.0536	10	0.87932	D	0	-28.2666	18.6955	0.91599	0.0:1.0:0.0:0.0	.	556;556	E7ET42;O43525	.;KCNQ3_HUMAN	N	556;436;556;545;435	ENSP00000373648:D556N;ENSP00000429799:D436N;ENSP00000428790:D556N	ENSP00000373648:D556N	D	-	1	0	KCNQ3	133219348	1.000000	0.71417	0.964000	0.40570	0.962000	0.63368	7.818000	0.86416	2.733000	0.93635	0.655000	0.94253	GAC		TCGA-FB-AAQ2-01A-31D-A40W-08	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	1	0	1	189	589	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	1.000000	183	584	0	132	2								-20.000000	1	1	121412	1	31	1	3	4	7	2.788746	1	0.460000	1.950000	0.608554	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	9.900000e-01	1
ARHGEF10	9639	broad.mit.edu	37	8	1857468	1857468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr8:1857468C>T	ENST00000398564.1	+	18	2050	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.H621Y|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.H683Y|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.H659Y|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.H684Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10			35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)			CAGCCCCTCTCATGACAGCCG	0.502000																								0							SO:0001583	missense			ENST00000398564.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.289	1.050147	0.19827	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	4.83	4.83	0.62350	.	1.318090	0.04904	N	0.451894	T	0.19127	0.0459	L	0.41961	1.31	0.58432	D	0.999998	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.002;0.002;0.005	T	0.08166	-1.0735	10	0.30854	T	0.27	-11.2687	10.5542	0.45107	0.0:0.9011:0.0:0.0989	.	684;621;659	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	Y	659;621;683;684;684;332	ENSP00000340297:H659Y;ENSP00000427909:H621Y;ENSP00000431012:H683Y;ENSP00000381571:H684Y;ENSP00000262112:H684Y;ENSP00000427768:H332Y	ENSP00000262112:H684Y	H	+	1	0	ARHGEF10	1844875	0.530000	0.26330	0.020000	0.16555	0.010000	0.07245	1.655000	0.37345	2.382000	0.81193	0.644000	0.83932	CAT		TCGA-FB-AAQ2-01A-31D-A40W-08	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding		1	0	1	189	483	0	175	1	8.905151e-01	9	3	0	175	2		0	0	0	0	0	2	1	1.000000	187	477	0	175	2								-10.026950	1	0	121412	1	33	1	0	1	1	1.598183	1	0.460000	1.950000	0.298701	0.920000	8.200000e-01	1.000000	0.940000	0.925250	0.920000	1	8.700000e-01	9.700000e-01
ALDOB	229	broad.mit.edu	37	9	104187759	104187759	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:104187759G>A	ENST00000374855.4	-	7	899	c.775C>T	c.(775-777)Cgt>Tgt	p.R259C	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate			24		Acute lymphoblastic leukemia(62;0.0559)			GGAACAGTACGGTGGAGAGCT	0.507000																								0							SO:0001583	missense			ENST00000374855.4	1	1	hg19	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543298	0.65198	.	.	ENSG00000136872	ENST00000374855;ENST00000374853;ENST00000430164	D	0.89875	-2.58	6.06	4.2	0.49525	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.95203	0.8318	10	0.87932	D	0	-5.352	10.3726	0.44064	0.0695:0.0:0.792:0.1385	.	259	P05062	ALDOB_HUMAN	C	259;186;259	ENSP00000363988:R259C	ENSP00000363986:R186C	R	-	1	0	ALDOB	103227580	1.000000	0.71417	0.880000	0.34516	0.291000	0.27294	6.636000	0.74299	0.854000	0.35336	0.650000	0.86243	CGT		TCGA-FB-AAQ2-01A-31D-A40W-08	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2	1	0	1	72	247	0	54	0	9.199893e-01	0	17	0	54	2		0	0	0	0	0	2	1	1.000000	72	244	0	54	2								-3.432400	1	1	121412	2	37	1	1	2	3	2.088270	0	0.460000	1.950000	0.469756	0.990000	8.000000e-01	1.000000	1.000000	0.963023	0.990000	1	8.900000e-01	1
ST6GALNAC6	30815	broad.mit.edu	37	9	130649855	130649855	+	Silent	SNP	C	C	T			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:130649855C>T	ENST00000373146.1	-	6	899	c.720G>A	c.(718-720)tcG>tcA	p.S240S	ST6GALNAC6_ENST00000485320.1_5'UTR|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000291839.5_Silent_p.S240S|ST6GALNAC6_ENST00000542456.1_Silent_p.S40S|ST6GALNAC6_ENST00000373141.1_Silent_p.S206S|ST6GALNAC6_ENST00000373144.3_Silent_p.S206S|ST6GALNAC6_ENST00000373142.1_Silent_p.S240S			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6			14					TGCTCAACCACGAATGAGACT	0.597000																								0							SO:0001819	synonymous_variant			ENST00000373146.1	1	1	hg19	CCDS6882.1																																																																																				TCGA-FB-AAQ2-01A-31D-A40W-08	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	1	0	1	31	101	0	31	1	1	29	87	0	31	2		0	0	0	0	0	2	1	1.000000	31	99	0	30	2								-20.000000	1	1	0	0		1	1	2	3	2.088270	0	0.460000	1.950000	0.469756	0.990000	7.400000e-01	1.000000	1.000000	0.960402	0.990000	1	8.800000e-01	1
ANXA1	301	broad.mit.edu	37	9	75775747	75775747	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:75775747T>G	ENST00000376911.1	+	5	1295	c.413T>G	c.(412-414)aTt>aGt	p.I138S	ANXA1_ENST00000257497.6_Missense_Mutation_p.I138S			P04083	ANXA1_HUMAN	annexin A1			8		all_epithelial(88;2.54e-11)		Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	GATACTCTAATTGAGATTTTG	0.358000																								0							SO:0001583	missense			ENST00000376911.1	1	1	hg19	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754013	0.49362	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.06933	3.24;3.24;3.24	5.86	2.23	0.28157	Annexin repeat, conserved site (1);	0.189835	0.56097	D	0.000034	T	0.16342	0.0393	M	0.91459	3.21	0.58432	D	0.999997	B	0.22276	0.067	B	0.24006	0.05	T	0.01604	-1.1314	10	0.87932	D	0	.	8.3775	0.32451	0.1446:0.0724:0.0:0.7829	.	138	P04083	ANXA1_HUMAN	S	138;149;138	ENSP00000257497:I138S;ENSP00000412489:I149S;ENSP00000366109:I138S	ENSP00000257497:I138S	I	+	2	0	ANXA1	74965567	1.000000	0.71417	0.987000	0.45799	0.948000	0.59901	3.066000	0.50002	0.130000	0.18549	0.533000	0.62120	ATT		TCGA-FB-AAQ2-01A-31D-A40W-08	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	1	0	1	186	629	0	192	1	1	1715	2408	0	192	2		0	0	0	0	0	2	1	1.000000	184	625	0	192	2								-20.000000	1	1	0	0		1	1	2	3	2.088270	0	0.460000	1.950000	0.469756	0.990000	8.800000e-01	1.000000	1.000000	0.980873	0.990000	1	9.400000e-01	1
OMD	4958	broad.mit.edu	37	9	95179346	95179346	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chr9:95179346T>A	ENST00000375550.4	-	2	770	c.495A>T	c.(493-495)gaA>gaT	p.E165D	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin			16					GAAGGAGTCTTTCCAGAGATT	0.353000			T	USP6	aneurysmal bone cysts										Dom	yes		9	9q22.31	4958	osteomodulin		M	0							SO:0001583	missense			ENST00000375550.4	1	1	hg19	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	t	16.29	3.081856	0.55861	.	.	ENSG00000127083	ENST00000375550	T	0.05258	3.47	5.41	4.27	0.50696	.	0.071747	0.53938	D	0.000044	T	0.06462	0.0166	L	0.60067	1.865	0.31296	N	0.688889	P	0.42692	0.787	B	0.33121	0.158	T	0.13255	-1.0516	10	0.56958	D	0.05	-20.6279	7.6328	0.28249	0.0:0.2438:0.0:0.7562	.	165	Q99983	OMD_HUMAN	D	165	ENSP00000364700:E165D	ENSP00000364700:E165D	E	-	3	2	OMD	94219167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.745000	0.26259	1.001000	0.39076	0.477000	0.44152	GAA		TCGA-FB-AAQ2-01A-31D-A40W-08	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	1	0	1	86	296	0	72	0	0	0	1	0	72	2		0	0	0	0	0	2	1	1.000000	86	294	1	72	18								-20.000000	1	1	0	0		1	1	2	3	2.088270	0	0.460000	1.950000	0.469756	0.990000	8.100000e-01	1.000000	1.000000	0.964831	0.990000	1	9.000000e-01	1
AFF2	2334	broad.mit.edu	37	X	148055040	148055040	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:148055040G>A	ENST00000370460.2	+	16	3786	c.3307G>A	c.(3307-3309)Gcc>Acc	p.A1103T	AFF2_ENST00000370457.5_Missense_Mutation_p.A1068T|AFF2_ENST00000342251.3_Missense_Mutation_p.A1070T|AFF2_ENST00000286437.5_Missense_Mutation_p.A744T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	p.A1103T(1)		109	Acute lymphoblastic leukemia(192;6.56e-05)				TGCTGATGCCGCCCTCTCCTT	0.468000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000370460.2	1	1	hg19	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215490	0.95104	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.75020	0.955;0.889;0.985;0.939;0.939;0.964	D	0.85022	0.0912	10	0.66056	D	0.02	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	744;1068;1068;1064;1093;1103	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	T	1103;1068;1070;744	ENSP00000359489:A1103T;ENSP00000359486:A1068T;ENSP00000345459:A1070T;ENSP00000286437:A744T	ENSP00000286437:A744T	A	+	1	0	AFF2	147862729	1.000000	0.71417	0.964000	0.40570	0.734000	0.41952	9.827000	0.99397	2.404000	0.81709	0.600000	0.82982	GCC		TCGA-FB-AAQ2-01A-31D-A40W-08	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1	106	300	0	108		0	0	0	0	108	2		0	0	0	0	0	2	1	1.000000	105	296	0	106	2								-5.860837	1	1	0	0		1	0	1	1			0.460000	1.950000	0.460000	0.990000	9.500000e-01	1.000000	1.000000	0.997233	0.990000	1	9.900000e-01	1
BMX	660	broad.mit.edu	37	X	15554529	15554529	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAQ2-01A-31D-A40W-08	TCGA-FB-AAQ2-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b4231a8-75a7-4fe6-bd09-a75f97bee933	880b3248-8493-4948-bc90-14cae9e8761b	g.chrX:15554529G>A	ENST00000357607.2	+	13	1389	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	BMX_ENST00000342014.6_Missense_Mutation_p.D401N|BMX_ENST00000348343.6_Missense_Mutation_p.D401N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase			30	Hepatocellular(33;0.183)				CAAGGTCCCCGACTCTGTGTC	0.408000																								0							SO:0001583	missense			ENST00000357607.2	1	1	hg19	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	g	5.048	0.194624	0.09599	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.88975	-2.45;-2.45;-2.45	4.94	-0.125	0.13519	Protein kinase-like domain (1);	1.355510	0.04879	N	0.447326	T	0.73497	0.3594	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.60250	-0.7300	10	0.21014	T	0.42	.	1.3363	0.02145	0.2017:0.1429:0.4229:0.2324	.	401	P51813	BMX_HUMAN	N	401	ENSP00000350224:D401N;ENSP00000308774:D401N;ENSP00000340082:D401N	ENSP00000340082:D401N	D	+	1	0	BMX	15464450	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.656000	0.05342	0.242000	0.21303	0.519000	0.50382	GAC		TCGA-FB-AAQ2-01A-31D-A40W-08	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	1	0	1	128	317	0	88	0	4.478229e-01	0	5	0	88	2		0	0	0	0	0	2	1	1.000000	124	309	0	81	2								-20.000000	1	1	0	0		1	0	1	1			0.460000	1.950000	0.460000	0.990000	9.900000e-01	1.000000	1.000000	0.999938	0.990000	1	9.900000e-01	1
