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
PER1	5187	broad.mit.edu	37	17	8049954	8049955	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:8049954_8049955insT	ENST00000317276.4	-	15	2101_2102	c.1864_1865insA	c.(1864-1866)agcfs	p.S622fs	PER1_ENST00000581082.1_Frame_Shift_Ins_p.S602fs|PER1_ENST00000354903.5_Frame_Shift_Ins_p.S606fs|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1			47					GTAGGAGCAGCTGGAGGCTTCT	0.639000			T	ETV6	AML, CMML			Other conserved DNA damage response genes							Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0							SO:0001589	frameshift_variant			ENST00000317276.4	0	1	hg19	CCDS11131.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2	1	0	0	37	281	0	62	0	9.135793e-01	0	34	0	62	2	0	0	0	0	0	0		1	1.000000	37	276	0	60	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1	1.681783	1	0.440000	1.980000	0.284071	0.410000	0.290000	0.540000	0.410000	0.418874	0.410000	0	0.350000	0.480000
ANKRD13C	81573	broad.mit.edu	37	1	70819981	70819981	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:70819981delG	ENST00000370944.4	-	1	424	c.111delC	c.(109-111)accfs	p.T37fs	HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000361764.4_5'Flank|ANKRD13C_ENST00000262346.6_Frame_Shift_Del_p.T37fs|HHLA3_ENST00000359875.5_5'Flank	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C			19					TTCTGGTAAAGGTACCGCCGA	0.602000																								0							SO:0001589	frameshift_variant			ENST00000370944.4	1	1	hg19	CCDS648.2																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	1	0	0	62	503	0	131	0	4.308822e-01	1	12	0	131	2	0	0	0	0	0	0		1	0.999724	106	485	4	129	33	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	0	0	1.943490	0	0.440000	1.980000	0.419569	0.470000	0.370000	0.600000	0.480000	0.486081	0.470000	0	0.420000	0.540000
RPL15	6138	broad.mit.edu	37	3	23960714	23960715	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:23960714_23960715insT	ENST00000307839.5	+	4	976_977	c.337_338insT	c.(337-339)ctgfs	p.L113fs	NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|RPL15_ENST00000435882.1_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000415719.1_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000415901.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank|RPL15_ENST00000456530.2_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000354811.5_Frame_Shift_Ins_p.L113fs|RPL15_ENST00000413699.1_Frame_Shift_Ins_p.L113fs|NKIRAS1_ENST00000443659.2_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15			7					CTGTGGGGCTCTGAGAGTCCTG	0.421000																								0							SO:0001589	frameshift_variant			ENST00000307839.5	0	1	hg19	CCDS2640.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	1	0	0	95	448	0	102	1	1	1374	7936	0	102	2	0	0	0	0	0	0		1	1.000000	90	412	0	102	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	2	2	4	2.113889	0	0.440000	1.980000	0.468085	0.840000	0.690000	1.000000	0.830000	0.855798	0.840000	0	0.760000	0.960000
NEURL	0	broad.mit.edu	37	10	105349367	105349367	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:105349367A>C	ENST00000369780.4	+	5	1845	c.1436A>C	c.(1435-1437)gAc>gCc	p.D479A	NEURL_ENST00000369777.2_Missense_Mutation_p.D462A|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN				17					CGCCTGTCTGACCCCTTGCTC	0.647000																								0							SO:0001583	missense			ENST00000369780.4	0	1	hg19	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850177	0.51270	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	5.2	5.2	0.72013	.	0.100580	0.64402	D	0.000003	T	0.57272	0.2042	M	0.65498	2.005	0.80722	D	1	B	0.17852	0.024	B	0.12156	0.007	T	0.53493	-0.8431	9	0.20046	T	0.44	-30.6731	11.069	0.47993	0.9249:0.0:0.0751:0.0	.	479	O76050	NEU1A_HUMAN	A	479;462	.	ENSP00000358792:D462A	D	+	2	0	NEURL	105339357	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.976000	0.70484	1.980000	0.57719	0.459000	0.35465	GAC		TCGA-IB-A7M4-01A-11D-A36O-08	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1	0	0	0	11	498	0	161	1	5.567946e-02	2	14	0	161	2		0	0	0	0	0	2	1	0.997841	11	473	0	158	2		0	0	0	0	161	2	-2.851309	1	1	0	0		1	1	2	3	2.062135	0	0.440000	1.980000	0.448493	0.100000	0.040000	1.000000	0.100000	0.157845	0.100000	0	0.070000	0.150000
VDAC2	7417	broad.mit.edu	37	10	76979095	76979095	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr10:76979095A>G	ENST00000332211.6	+	6	550	c.337A>G	c.(337-339)Acc>Gcc	p.T113A	VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.T113A|VDAC2_ENST00000313132.4_Missense_Mutation_p.T128A|VDAC2_ENST00000535553.1_Missense_Mutation_p.T74A	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2			10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)			Dihydroxyaluminium(DB01375)	ATTTGATACTACCTTCTCACC	0.239000																								0							SO:0001583	missense			ENST00000332211.6	1	1	hg19	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842620	0.51057	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000535553;ENST00000313132;ENST00000447677	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	M	0.67569	2.06	0.80722	D	1	B;B;B	0.28082	0.033;0.2;0.149	B;B;B	0.30029	0.11;0.098;0.063	T	0.32161	-0.9917	10	0.23891	T	0.37	.	15.1356	0.72562	1.0:0.0:0.0:0.0	.	74;128;113	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	A	113;113;113;113;74;128;113	ENSP00000298468:T113A;ENSP00000443092:T113A;ENSP00000344876:T113A;ENSP00000361686:T113A;ENSP00000445901:T74A;ENSP00000361635:T128A;ENSP00000401492:T113A	ENSP00000298468:T113A	T	+	1	0	VDAC2	76649101	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.574000	0.82434	1.978000	0.57642	0.460000	0.39030	ACC		TCGA-IB-A7M4-01A-11D-A36O-08	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048792.1	1	0	1	85	321	0	89	1	1	223	171	0	89	2		0	0	0	0	0	2	1	1.000000	84	315	0	89	2		0	0	0	0	89	2	-20.000000	1	1	0	0		1	1	2	3	2.062135	0	0.440000	1.980000	0.448493	0.960000	0.790000	1.000000	1.000000	0.948667	0.960000	1	0.870000	1.000000
MUC2	4583	broad.mit.edu	37	11	1096405	1096405	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:1096405G>A	ENST00000441003.2	+	34	6457	c.6430G>A	c.(6430-6432)Gtg>Atg	p.V2144M	MUC2_ENST00000361558.6_Missense_Mutation_p.V282M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming			102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		Pranlukast(DB01411)	CTGCACCTACGTGCTGGTGGA	0.602000																								0							SO:0001583	missense			ENST00000441003.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	g	15.11	2.735694	0.49045	.	.	ENSG00000198788	ENST00000441003;ENST00000361558	T;T	0.62364	0.03;0.03	3.95	3.04	0.35103	.	.	.	.	.	T	0.75332	0.3835	M	0.80422	2.495	0.09310	N	1	D	0.76494	0.999	P	0.62014	0.897	T	0.63844	-0.6545	9	0.72032	D	0.01	.	9.045	0.36341	0.1805:0.0:0.8195:0.0	.	2144	E7EUV1	.	M	2144;282	ENSP00000415183:V2144M;ENSP00000354885:V282M	ENSP00000354885:V282M	V	+	1	0	MUC2	1086405	1.000000	0.71417	0.942000	0.38095	0.747000	0.42532	3.053000	0.49901	0.869000	0.35703	0.479000	0.44913	GTG		TCGA-IB-A7M4-01A-11D-A36O-08	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	1	0	1	76	267	0	92	1	1	68	29	0	92	2		0	0	0	0	0	2	1	1.000000	75	264	0	92	2		0	0	0	0	92	2	-20.000000	1	1	0	0		1	1	2	3	2.078077	0	0.440000	1.980000	0.449686	0.990000	0.830000	1.000000	1.000000	0.973574	0.990000	1	0.920000	1.000000
MICAL2	9645	broad.mit.edu	37	11	12247727	12247727	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:12247727C>G	ENST00000256194.4	+	14	1986	c.1698C>G	c.(1696-1698)gaC>gaG	p.D566E	MICAL2_ENST00000537344.1_Missense_Mutation_p.D566E|MICAL2_ENST00000527546.1_Missense_Mutation_p.D566E|MICAL2_ENST00000342902.5_Missense_Mutation_p.D566E|MICAL2_ENST00000379612.3_Missense_Mutation_p.D566E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2			47					GCAACTTTGACTCTTTGAATG	0.517000																								0							SO:0001583	missense			ENST00000256194.4	1	1	hg19	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846635	0.51164	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.39	5.39	0.77823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	L	0.37750	1.13	0.53005	D	0.999962	B;B;B;B;B	0.10296	0.0;0.001;0.002;0.003;0.0	B;B;B;B;B	0.20184	0.006;0.026;0.028;0.026;0.004	T	0.35450	-0.9788	10	0.28530	T	0.3	.	10.6994	0.45918	0.0:0.879:0.0:0.121	.	566;566;566;566;566	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	E	566;99;566;566;566;566	ENSP00000441689:D566E;ENSP00000256194:D566E;ENSP00000433965:D566E;ENSP00000344894:D566E;ENSP00000368932:D566E	ENSP00000256194:D566E	D	+	3	2	MICAL2	12204303	0.979000	0.34478	1.000000	0.80357	0.988000	0.76386	0.260000	0.18424	2.526000	0.85167	0.563000	0.77884	GAC		TCGA-IB-A7M4-01A-11D-A36O-08	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	0	0	0	12	449	0	114	1	2.278378e-01	2	30	0	114	2		0	0	0	0	0	2	1	0.999054	12	442	0	113	2		0	0	0	0	114	2	-3.276085	1	1	0	0		1	1	2	3	2.078077	0	0.440000	1.980000	0.449686	0.120000	0.060000	1.000000	0.120000	0.185530	0.120000	0	0.090000	0.180000
IGSF9B	22997	broad.mit.edu	37	11	133807360	133807360	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:133807360G>A	ENST00000321016.8	-	5	820	c.590C>T	c.(589-591)tCg>tTg	p.S197L	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S197L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B			44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)			CCGACTGACCGATGTCACTGT	0.607000																								0							SO:0001583	missense			ENST00000321016.8	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	18.11	3.551849	0.65311	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648;ENST00000533160	T;T;T;D	0.96459	-0.76;-1.21;-0.76;-4.02	5.54	4.6	0.57074	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96380	0.8819	M	0.62266	1.93	0.09310	N	0.999997	D	0.52996	0.957	P	0.50537	0.643	D	0.91429	0.5164	9	0.52906	T	0.07	.	15.4985	0.75677	0.0:0.0:0.8604:0.1396	.	197	Q9UPX0	TUTLB_HUMAN	L	197;39;197;187	ENSP00000317980:S197L;ENSP00000436552:S39L;ENSP00000436576:S197L;ENSP00000434026:S187L	ENSP00000317980:S197L	S	-	2	0	IGSF9B	133312570	0.981000	0.34729	0.039000	0.18376	0.979000	0.70002	4.882000	0.63121	1.289000	0.44618	0.561000	0.74099	TCG		TCGA-IB-A7M4-01A-11D-A36O-08	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	1	70	195	0	80	0	0	1	0	0	80	2		0	0	0	0	0	2	1	1.000000	68	190	0	80	2		0	0	0	0	80	2	-5.518651	1	1	121246	8	38	1	1	2	3	2.078077	0	0.440000	1.980000	0.449686	0.990000	0.980000	1.000000	1.000000	0.998713	0.990000	1	0.990000	1.000000
OR5B17	219965	broad.mit.edu	37	11	58126293	58126293	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:58126293G>T	ENST00000357377.3	-	1	249	c.250C>A	c.(250-252)Ctt>Att	p.L84I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17			30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)			TCTTCTATAAGCAACCCAGTT	0.458000																								0							SO:0001583	missense			ENST00000357377.3	1	1	hg19	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	3.439	-0.114369	0.06881	.	.	ENSG00000197786	ENST00000357377	T	0.00529	6.78	3.41	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.526148	0.14194	U	0.335150	T	0.00724	0.0024	M	0.73430	2.235	0.09310	N	1	B	0.20261	0.043	B	0.27608	0.081	T	0.34650	-0.9820	10	0.66056	D	0.02	-6.3521	9.1737	0.37098	0.1124:0.0:0.8876:0.0	.	84	Q8NGF7	OR5BH_HUMAN	I	84	ENSP00000349945:L84I	ENSP00000349945:L84I	L	-	1	0	OR5B17	57882869	0.000000	0.05858	0.005000	0.12908	0.013000	0.08279	-0.201000	0.09464	0.635000	0.30488	0.461000	0.40582	CTT		TCGA-IB-A7M4-01A-11D-A36O-08	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	1	0	1	53	182	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	1.000000	53	182	0	55	2		0	0	0	0	55	2	-20.000000	1	1	0	0		1	1	2	3	2.078077	0	0.440000	1.980000	0.449686	0.990000	0.810000	1.000000	1.000000	0.972913	0.990000	1	0.920000	1.000000
KLC2	64837	broad.mit.edu	37	11	66029401	66029401	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr11:66029401C>A	ENST00000417856.1	+	3	660	c.417C>A	c.(415-417)ttC>ttA	p.F139L	RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000316924.5_Missense_Mutation_p.F139L|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394065.2_De_novo_Start_InFrame|RP11-755F10.3_ENST00000533576.1_RNA|KLC2_ENST00000394078.1_Missense_Mutation_p.F139L|KLC2_ENST00000394067.2_Missense_Mutation_p.F139L|KLC2_ENST00000421552.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2			24					ACTTGCTGTTCATGAGCCAGA	0.632000																								0							SO:0001583	missense			ENST00000417856.1	1	0	hg19	CCDS8130.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065877	0.76187	.	.	ENSG00000174996	ENST00000417856;ENST00000526758;ENST00000440228;ENST00000394067;ENST00000316924;ENST00000394078;ENST00000475757	T;T;T;T;T;T;T	0.75154	0.85;0.85;-0.91;0.85;0.85;0.85;-0.91	4.15	3.23	0.37069	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.64402	D	0.000001	D	0.84037	0.5384	M	0.87827	2.91	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.74348	0.983;0.973	T	0.82032	-0.0658	10	0.44086	T	0.13	-18.3166	5.6991	0.17873	0.0:0.6847:0.0:0.3153	.	139;139	A8MX29;Q9H0B6	.;KLC2_HUMAN	L	139	ENSP00000399403:F139L;ENSP00000437026:F139L;ENSP00000396952:F139L;ENSP00000377631:F139L;ENSP00000314837:F139L;ENSP00000377641:F139L;ENSP00000431253:F139L	ENSP00000314837:F139L	F	+	3	2	KLC2	65785977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.567000	0.36407	0.953000	0.37825	0.561000	0.74099	TTC		TCGA-IB-A7M4-01A-11D-A36O-08	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258200.1	1	0	0	9	224	0	73	0	6.789423e-01	0	58	0	73	2		0	0	0	0	0	2	1	0.994259	9	222	0	72	2		0	0	0	0	73	2	-3.222809	1	1	0	0		1	1	2	3	2.078077	0	0.440000	1.980000	0.449686	0.190000	0.080000	1.000000	0.180000	0.247540	0.190000	0	0.130000	0.280000
PWP1	11137	broad.mit.edu	37	12	108091262	108091262	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:108091262G>A	ENST00000412830.3	+	7	800	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PWP1_ENST00000541166.1_Missense_Mutation_p.G149E	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)			23					ATTGCTGTAGGAAACATGACC	0.348000																								0							SO:0001583	missense			ENST00000412830.3	1	1	hg19	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936030	0.92458	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.44083	0.93;1.7	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.091825	0.85682	D	0.000000	T	0.73830	0.3637	M	0.93898	3.47	0.80722	D	1	D	0.59357	0.985	D	0.63488	0.915	T	0.80221	-0.1472	10	0.87932	D	0	.	19.8332	0.96644	0.0:0.0:1.0:0.0	.	211	Q13610	PWP1_HUMAN	E	211;211;211;211;149	ENSP00000387365:G211E;ENSP00000445249:G149E	ENSP00000258531:G211E	G	+	2	0	PWP1	106615392	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.039000	0.93777	2.779000	0.95612	0.637000	0.83480	GGA		TCGA-IB-A7M4-01A-11D-A36O-08	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	1	0	0	31	604	0	159	1	9.788459e-01	13	109	0	159	2		0	0	0	0	0	2	1	1.000000	30	595	0	159	2		0	0	0	0	159	2	-5.311288	1	1	0	0		1	2	3	5	2.383851	1	0.440000	1.980000	0.527346	0.270000	0.180000	1.000000	0.260000	0.411469	0.270000	0	0.220000	1.000000
ETV6	2120	broad.mit.edu	37	12	12037406	12037406	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:12037406A>G	ENST00000396373.4	+	6	1311	c.1037A>G	c.(1036-1038)tAt>tGt	p.Y346C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)			GATTACGTCTATCAGTTGCTT	0.438000			T	NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5	congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL										Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		L, E, M	0							SO:0001583	missense			ENST00000396373.4	1	1	hg19	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475803	0.84640	.	.	ENSG00000139083	ENST00000396373	T	0.14640	2.49	5.77	5.77	0.91146	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03068	-1.1076	10	0.62326	D	0.03	.	15.7572	0.78043	1.0:0.0:0.0:0.0	.	346	P41212	ETV6_HUMAN	C	346	ENSP00000379658:Y346C	ENSP00000379658:Y346C	Y	+	2	0	ETV6	11928673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.199000	0.70637	0.533000	0.62120	TAT		TCGA-IB-A7M4-01A-11D-A36O-08	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	1	0	1	153	676	0	244	1	9.998816e-01	22	37	0	244	2		0	0	0	0	0	2	1	1.000000	153	668	0	243	2		0	0	0	0	244	2	-20.000000	1	1	0	0		1	1	2	3	2.019051	0	0.440000	1.980000	0.441229	0.830000	0.720000	0.970000	0.840000	0.842768	0.830000	0	0.770000	0.900000
PITPNM2	57605	broad.mit.edu	37	12	123482085	123482085	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:123482085G>T	ENST00000542749.1	-	9	1322	c.1259C>A	c.(1258-1260)tCc>tAc	p.S420Y	PITPNM2_ENST00000280562.5_Missense_Mutation_p.S420Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S420Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S141Y|PITPNM2_ENST00000451868.2_5'Flank			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2			39	all_neural(191;0.101)|Medulloblastoma(191;0.163)				GTGGATCTTGGAGGGCGGTGC	0.657000																								0							SO:0001583	missense			ENST00000542749.1	1	1	hg19	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730448	0.69074	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.83	3.93	0.45458	.	0.417988	0.23797	N	0.044466	T	0.22360	0.0539	N	0.08118	0	0.37075	D	0.898715	D;D	0.62365	0.98;0.991	P;P	0.58721	0.844;0.73	T	0.35624	-0.9781	10	0.87932	D	0	-38.3331	14.0007	0.64431	0.0:0.4813:0.5187:0.0	.	420;420	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	Y	420;420;141;420	ENSP00000280562:S420Y;ENSP00000322218:S420Y;ENSP00000376223:S141Y;ENSP00000437611:S420Y	ENSP00000280562:S420Y	S	-	2	0	PITPNM2	122048038	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.154000	0.64894	1.019000	0.39547	-0.300000	0.09419	TCC		TCGA-IB-A7M4-01A-11D-A36O-08	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	1	0	1	129	401	0	147	0	6.005868e-02	0	2	0	147	2		0	0	0	0	0	2	1	1.000000	128	392	0	145	2		0	0	0	0	147	2	-20.000000	1	1	0	0		1	0	1	1	2.005753	0	0.440000	1.980000	0.427403	0.990000	0.910000	1.000000	1.000000	0.993566	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-IB-A7M4-01A-11D-A36O-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	81	289	0	89	1	9.590678e-01	9	12	0	89	2	1	1	72	304	0	305	2	1	1.000000	81	288	0	88	2	1	1	1858	6158	0	89	2	-20.000000	1	1	121404	2	44	1	1	2	3	2.019051	0	0.440000	1.980000	0.441229	0.990000	0.810000	1.000000	1.000000	0.961391	0.990000	1	0.890000	1.000000
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:55688832C>T	ENST00000358433.2	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6			20					GGAGAAATTACGGAGAAAGAA	0.388000																								0							SO:0001583	missense			ENST00000358433.2	1	1	hg19	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	3.881	-0.025966	0.07589	.	.	ENSG00000188324	ENST00000358433	T	0.01084	5.36	4.24	0.321	0.15883	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000517	T	0.01800	0.0057	M	0.84219	2.685	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.43065	-0.9414	10	0.66056	D	0.02	.	2.1956	0.03910	0.1224:0.4226:0.1199:0.335	.	62	A6NF89	OR6C6_HUMAN	H	62	ENSP00000351211:R62H	ENSP00000351211:R62H	R	-	2	0	OR6C6	53975099	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.335000	0.02662	-0.046000	0.13446	-1.274000	0.01402	CGT		TCGA-IB-A7M4-01A-11D-A36O-08	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1	1	0	1	80	217	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	1.000000	80	214	0	79	2		0	0	0	0	79	2	-6.084236	1	1	121400	3	39	1	1	2	3	2.019051	0	0.440000	1.980000	0.441229	0.990000	0.990000	1.000000	1.000000	0.999175	0.990000	1	0.990000	1.000000
TMTC3	160418	broad.mit.edu	37	12	88568385	88568385	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr12:88568385G>A	ENST00000266712.6	+	9	1421	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	p.V401I(1)		31					CTTAAACAGTGTATTTAAAAA	0.318000																								1	Substitution - Missense(1)						SO:0001630	splice_region_variant			ENST00000266712.6	1	0	hg19	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439040	0.25900	.	.	ENSG00000139324	ENST00000266712	T	0.42131	0.98	5.71	4.83	0.62350	.	0.468547	0.24436	N	0.038556	T	0.28797	0.0714	L	0.27053	0.805	0.26494	N	0.974889	B	0.15930	0.015	B	0.20384	0.029	T	0.16188	-1.0411	10	0.22109	T	0.4	-12.395	9.9853	0.41839	0.2109:0.0:0.7891:0.0	.	401	Q6ZXV5-2	.	I	401	ENSP00000266712:V401I	ENSP00000266712:V401I	V	+	1	0	TMTC3	87092516	0.997000	0.39634	0.990000	0.47175	0.786000	0.44442	0.928000	0.28831	1.426000	0.47256	-0.136000	0.14681	GTA		TCGA-IB-A7M4-01A-11D-A36O-08	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	1	0	1	89	233	0	106	1	3.097978e-01	4	0	0	106	2		0	0	0	0	0	2	1	1.000000	89	228	0	106	2		0	0	0	0	106	2	-20.000000	1	1	0	0		1	0	0	0	1.618708	1	0.440000	1.980000	0.297894	0.970000	0.810000	1.000000	1.000000	0.956618	0.970000	1	0.890000	1.000000
IRS2	8660	broad.mit.edu	37	13	110436560	110436560	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:110436560G>A	ENST00000375856.3	-	1	2355	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2			19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		GGGGCAGGACGGGCAGAGGCG	0.697000													Melanoma(100;613 2409 40847)											0							SO:0001583	missense			ENST00000375856.3	0	1	hg19	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	1.859	-0.463098	0.04476	.	.	ENSG00000185950	ENST00000375856	T	0.17213	2.29	4.2	4.2	0.49525	.	0.965381	0.08540	U	0.930734	T	0.13670	0.0331	L	0.44542	1.39	0.42996	D	0.994506	B	0.34329	0.449	B	0.16722	0.016	T	0.15263	-1.0443	10	0.10636	T	0.68	-11.5	13.8503	0.63492	0.0:0.0:1.0:0.0	.	614	Q9Y4H2	IRS2_HUMAN	L	614	ENSP00000365016:P614L	ENSP00000365016:P614L	P	-	2	0	IRS2	109234561	0.977000	0.34250	0.980000	0.43619	0.886000	0.51366	2.612000	0.46343	2.156000	0.67533	0.549000	0.68633	CCG		TCGA-IB-A7M4-01A-11D-A36O-08	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	0	0	0	4	47	0	18	1	7.050339e-01	6	23	0	18	2		0	0	0	0	0	2	1	0.888377	4	46	0	18	2		0	0	0	0	18	2	-8.898715	1	1	119534	4	31	1	0	0	0	1.892462	0	0.440000	1.980000	0.406025	0.360000	0.120000	0.740000	0.320000	0.392743	0.360000	0	0.220000	0.550000
WASF3	10810	broad.mit.edu	37	13	27259854	27259854	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:27259854C>T	ENST00000335327.5	+	10	1559	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	WASF3_ENST00000361042.4_Missense_Mutation_p.R458W	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3			22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)			GCAGGAGCAGCGGGAGCAGGA	0.532000																								0							SO:0001583	missense			ENST00000335327.5	1	1	hg19	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650714	0.87958	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.42900	0.96;0.96	5.75	5.75	0.90469	.	0.110713	0.64402	D	0.000004	T	0.61763	0.2373	L	0.52364	1.645	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.91	T	0.58205	-0.7677	10	0.48119	T	0.1	-11.9041	19.9239	0.97097	0.0:1.0:0.0:0.0	.	458;461	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	W	458;461	ENSP00000354325:R458W;ENSP00000335055:R461W	ENSP00000335055:R461W	R	+	1	2	WASF3	26157854	1.000000	0.71417	0.984000	0.44739	0.961000	0.63080	5.562000	0.67346	2.716000	0.92895	0.561000	0.74099	CGG		TCGA-IB-A7M4-01A-11D-A36O-08	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1	1	0	1	53	259	0	77	0	1.404639e-01	0	4	0	77	2		0	0	0	0	0	2	1	1.000000	53	255	0	76	2		0	0	0	0	77	2	-3.187230	1	1	0	0		1	0	0	0	1.892462	0	0.440000	1.980000	0.406025	0.720000	0.550000	0.910000	0.730000	0.733442	0.720000	0	0.630000	0.820000
MTUS2	23281	broad.mit.edu	37	13	29600278	29600278	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr13:29600278G>A	ENST00000431530.3	+	1	1531	c.1473G>A	c.(1471-1473)acG>acA	p.T491T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2			20					AGAACAAGACGGAGGTGCCTG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000431530.3	1	1	hg19	CCDS45022.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	1	0	1	38	167	0	70		0	0	0	0	70	2		0	0	0	0	0	2	1	1.000000	37	166	0	70	2		0	0	0	0	70	2	-2.976986	1	1	120898	2	32	1	0	0	0	1.892462	0	0.440000	1.980000	0.406025	0.790000	0.580000	1.000000	1.000000	0.799003	0.790000	0	0.680000	0.910000
MTHFD1	4522	broad.mit.edu	37	14	64854981	64854981	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr14:64854981C>T	ENST00000545908.1	+	1	233	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	MTHFD1_ENST00000216605.8_5'Flank			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase			30				Tetrahydrofolic acid(DB00116)	ACTGCGCATGCGCCACCGCGT	0.627000													Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)											0							SO:0001583	missense			ENST00000545908.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	13.22	2.172108	0.38315	.	.	ENSG00000100714	ENST00000545908;ENST00000216605	T;T	0.13089	2.62;2.7	4.54	0.576	0.17380	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.20074	N	0.999934	B	0.06786	0.001	B	0.04013	0.001	T	0.37197	-0.9716	8	0.87932	D	0	.	1.4441	0.02360	0.1748:0.4661:0.1695:0.1896	.	2	F5H2F4	.	C	2	ENSP00000438588:R2C;ENSP00000216605:R2C	ENSP00000438588:R2C	R	+	1	0	MTHFD1	63924734	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.268000	0.18571	0.094000	0.17404	-0.140000	0.14226	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1	0	0	0	5	43	0	13	0	4.434389e-02	0	3	0	13	2		0	0	0	0	0	2	1	0.941063	5	43	0	13	2		0	0	0	0	13	2	-11.159780	1	1	0	0		1	0	3	3	2.177319	1	0.440000	1.980000	0.488398	0.640000	0.230000	1.000000	1.000000	0.678621	0.640000	0	0.390000	1.000000
CSPG4	1464	broad.mit.edu	37	15	75977834	75977834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr15:75977834G>A	ENST00000308508.5	-	4	4090	c.3998C>T	c.(3997-3999)tCg>tTg	p.S1333L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4			48					CACATCCAGCGAGAAGGCATC	0.662000																								0							SO:0001583	missense			ENST00000308508.5	0	1	hg19	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.250306	0.22880	.	.	ENSG00000173546	ENST00000308508	T	0.19669	2.13	4.76	3.78	0.43462	.	0.428701	0.21773	N	0.069329	T	0.11110	0.0271	L	0.27053	0.805	0.30136	N	0.804328	B	0.31837	0.342	B	0.17098	0.017	T	0.08006	-1.0743	10	0.20519	T	0.43	.	8.5151	0.33242	0.0964:0.1601:0.7435:0.0	.	1333	Q6UVK1	CSPG4_HUMAN	L	1333	ENSP00000312506:S1333L	ENSP00000312506:S1333L	S	-	2	0	CSPG4	73764889	1.000000	0.71417	0.993000	0.49108	0.240000	0.25518	3.390000	0.52523	2.356000	0.79943	0.505000	0.49811	TCG		TCGA-IB-A7M4-01A-11D-A36O-08	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	1	0	1	24	34	0	18	1	9.982334e-01	17	2	0	18	2		0	0	0	0	0	2	1	1.000000	23	32	0	18	2		0	0	0	0	18	2	-20.000000	1	1	121050	2	31	1	0	1	1	1.648770	1	0.440000	1.980000	0.282051	0.940000	0.760000	1.000000	0.990000	0.933968	0.940000	1	0.870000	0.990000
TBL3	10607	broad.mit.edu	37	16	2024811	2024811	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2024811G>A	ENST00000568546.1	+	6	555	c.427G>A	c.(427-429)Ggg>Agg	p.G143R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3			18					GCGGCACTACGGGACACACCA	0.662000													Melanoma(118;616 1651 35077 38081 48633)											0							SO:0001583	missense			ENST00000568546.1	0	1	hg19	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145173	0.57044	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.611855	0.18098	N	0.151764	T	0.40498	0.1119	N	0.02247	-0.625	0.42212	D	0.991811	D	0.89917	1.0	D	0.67548	0.952	T	0.50882	-0.8775	9	0.45353	T	0.12	-35.2202	11.1898	0.48679	0.0:0.0:0.7045:0.2955	.	143	Q12788	TBL3_HUMAN	R	143	.	ENSP00000331815:G143R	G	+	1	0	TBL3	1964812	1.000000	0.71417	0.943000	0.38184	0.307000	0.27823	6.648000	0.74359	2.301000	0.77427	0.561000	0.74099	GGG		TCGA-IB-A7M4-01A-11D-A36O-08	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	0	0	0	9	314	0	80	1	7.744434e-01	3	97	0	80	2		0	0	0	0	0	2	1	0.993707	9	306	0	78	2		0	0	0	0	80	2	-2.924339	1	1	121394	4	39	1	2	2	4	2.114976	0	0.440000	1.980000	0.468085	0.140000	0.060000	1.000000	0.130000	0.229200	0.140000	0	0.090000	0.220000
PKD1	5310	broad.mit.edu	37	16	2161454	2161454	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr16:2161454G>A	ENST00000262304.4	-	15	3922	c.3714C>T	c.(3712-3714)ggC>ggT	p.G1238G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.G1238G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)			72					TGATGTTGTCGCCCGTCTGCA	0.672000																								0							SO:0001819	synonymous_variant			ENST00000262304.4	1	1	hg19	CCDS32369.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0	0	1	50	124	1	35	1	5.511203e-01	2	4	1	35	2		0	0	0	0	0	2	1	0.999999	49	121	1	35	16		0	0	0	1	35	2	-20.000000	1	1	119332	9	37	1	2	2	4	2.114976	0	0.440000	1.980000	0.468085	0.990000	0.990000	1.000000	1.000000	0.999714	0.990000	1	0.990000	1.000000
SMCR8	140775	broad.mit.edu	37	17	18220237	18220237	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:18220237C>T	ENST00000406438.3	+	1	1614	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8			21					TTGTGGAGGTCGATGACAGGA	0.448000																								0							SO:0001819	synonymous_variant			ENST00000406438.3	1	1	hg19	CCDS11195.2																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	1	0	1	84	239	0	107	1	8.828876e-01	12	1	0	107	2		0	0	0	0	0	2	1	1.000000	83	235	0	105	2		0	0	0	0	107	2	-20.000000	1	0	0	0		1	0	1	1	1.681783	1	0.440000	1.980000	0.284071	0.890000	0.740000	1.000000	0.920000	0.898563	0.890000	1	0.820000	0.970000
SLFN13	146857	broad.mit.edu	37	17	33767722	33767722	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:33767722C>T	ENST00000285013.6	-	6	2861	c.2586G>A	c.(2584-2586)agG>agA	p.R862R	SLFN13_ENST00000360502.2_Silent_p.R544R|SLFN13_ENST00000534689.1_Silent_p.R544R|SLFN13_ENST00000526861.1_Silent_p.R862R|SLFN13_ENST00000533791.1_Silent_p.R862R|SLFN13_ENST00000542635.1_Silent_p.R862R	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13			31					ACACTATGCTCCTTTCCAGGC	0.478000																								0							SO:0001819	synonymous_variant			ENST00000285013.6	0	1	hg19	CCDS32620.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	0	0	0	15	808	0	195	0	1.043118e-01	0	28	0	195	2		0	0	0	0	0	2	1	0.999853	14	796	0	192	2		0	0	0	0	195	2	-2.205970	0	1	0	0		1	2	2	4	2.168698	1	0.440000	1.980000	0.481097	0.090000	0.040000	1.000000	0.090000	0.220875	0.090000	0	0.060000	0.150000
SPATA20	64847	broad.mit.edu	37	17	48631760	48631760	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:48631760G>A	ENST00000356488.4	+	14	2141	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	CACNA1G-AS1_ENST00000508920.1_RNA|SPATA20_ENST00000393244.3_Silent_p.A642A|CACNA1G-AS1_ENST00000505495.1_RNA|SPATA20_ENST00000006658.6_Silent_p.A702A|CACNA1G-AS1_ENST00000505793.1_RNA|SPATA20_ENST00000511937.1_3'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20			24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		TCCCGGTGGCGTTGCCCGAGA	0.647000																								0							SO:0001819	synonymous_variant			ENST00000356488.4	0	1	hg19	CCDS58563.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	0	0	0	5	414	1	92	0	1.458673e-02	0	113	1	92	6		0	0	0	0	0	2	0	0.011357	5	409	1	91	16		0	0	0	1	92	2	-2.621283	1	1	121412	19	45	1	2	2	4	2.153852	1	0.440000	1.980000	0.478973	0.060000	0.010000	1.000000	0.060000	0.192714	0.060000	0	0.030000	0.130000
CLTC	1213	broad.mit.edu	37	17	57725004	57725004	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:57725004C>A	ENST00000269122.3	+	3	770	c.496C>A	c.(496-498)Ctt>Att	p.L166I	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.L166I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)		CLTC/ALK(44)|CLTC/TFE3(2)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)				AAAGTGGTTACTTCTGACTGG	0.393000			T	ALK, TFE3	ALCL, renal 										Dom	yes		17	17q11-qter	1213	clathrin, heavy polypeptide (Hc)		L	0							SO:0001583	missense			ENST00000269122.3	1	1	hg19	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210186	0.58343	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.42513	0.97;0.97	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.50333	1.59	0.80722	D	1	D;B	0.56968	0.978;0.001	D;B	0.77557	0.99;0.015	T	0.53885	-0.8375	10	0.42905	T	0.14	.	15.153	0.72717	0.0:0.931:0.0:0.069	.	166;166	Q00610;Q00610-2	CLH1_HUMAN;.	I	166	ENSP00000269122:L166I;ENSP00000376763:L166I	ENSP00000269122:L166I	L	+	1	0	CLTC	55079786	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.985000	0.63845	2.739000	0.93911	0.655000	0.94253	CTT		TCGA-IB-A7M4-01A-11D-A36O-08	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	1	0	1	101	388	0	122	1	1	53	71	0	122	2		0	0	0	0	0	2	1	1.000000	100	381	0	121	2		0	0	0	0	122	2	-20.000000	1	1	0	0		1	2	2	4	2.153852	1	0.440000	1.980000	0.478973	0.990000	0.840000	1.000000	1.000000	0.974259	0.990000	1	0.920000	1.000000
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L	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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GGTGAGGATGGGCCTCCGGTT	0.577000		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	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	GRCh37	CM973401	TP53	M		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	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		TCGA-IB-A7M4-01A-11D-A36O-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	63	135	0	87	1	1	100	21	0	87	2	1	1	167	404	0	560	2	1	1.000000	63	132	0	87	2		0	0	0	0	87	2	-20.000000	1	1	0	0		1	0	1	1	1.681783	1	0.440000	1.980000	0.284071	0.960000	0.820000	1.000000	1.000000	0.954674	0.960000	1	0.900000	1.000000
ZNF521	25925	broad.mit.edu	37	18	22806481	22806481	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:22806481C>T	ENST00000361524.3	-	4	1549	c.1401G>A	c.(1399-1401)ctG>ctA	p.L467L	ZNF521_ENST00000538137.2_Silent_p.L467L|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.L247L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521			149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)				CAGAAACAATCAGACCTGGGT	0.463000			T	PAX5	ALL										Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0							SO:0001819	synonymous_variant			ENST00000361524.3	1	1	hg19	CCDS32806.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	1	0	0	21	418	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	0.999997	22	411	0	97	2		0	0	0	0	98	2	-19.985880	1	0	0	0		1	2	7	9	3.039103	1	0.440000	1.980000	0.632449	0.360000	0.210000	1.000000	0.340000	0.486926	0.360000	0	0.270000	1.000000
KLHL14	57565	broad.mit.edu	37	18	30322007	30322007	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr18:30322007C>T	ENST00000359358.4	-	3	1391	c.953G>A	c.(952-954)cGc>cAc	p.R318H	KLHL14_ENST00000358095.4_Missense_Mutation_p.R318H	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	p.R318H(1)		31					CTTGTTAGAGCGAATTCTTCA	0.428000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000359358.4	0	1	hg19	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025617	0.75390	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;D	0.81996	-1.21;-1.56	6.11	6.11	0.99139	Galactose oxidase, beta-propeller (1);	0.053328	0.85682	D	0.000000	D	0.92267	0.7547	M	0.84082	2.675	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.92111	0.5696	10	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	318	Q9P2G3	KLH14_HUMAN	H	318	ENSP00000352314:R318H;ENSP00000350808:R318H	ENSP00000350808:R318H	R	-	2	0	KLHL14	28576005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.298000	0.78815	2.906000	0.99361	0.655000	0.94253	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1	0	0	0	9	345	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	0.993747	8	338	0	52	2		0	0	0	0	53	2	-3.427231	1	1	121412	1	29	1	1	3	4	2.800587	1	0.440000	1.980000	0.581715	0.170000	0.070000	1.000000	0.150000	0.310650	0.170000	0	0.110000	1.000000
CYP4F22	126410	broad.mit.edu	37	19	15655075	15655075	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:15655075T>C	ENST00000269703.3	+	10	1320	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	CYP4F22_ENST00000601005.2_Missense_Mutation_p.L374P	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22			37					GGCCGGGAGCTGGAGGAGCTG	0.542000																								0							SO:0001583	missense			ENST00000269703.3	0	1	hg19	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	T	0.522	-0.861607	0.02610	.	.	ENSG00000171954	ENST00000269703	T	0.67523	-0.27	5.21	1.34	0.21922	.	0.814660	0.10833	N	0.629139	T	0.31009	0.0783	N	0.01493	-0.835	0.39648	D	0.970427	B	0.02656	0.0	B	0.06405	0.002	T	0.17715	-1.0360	10	0.13108	T	0.6	.	3.4617	0.07535	0.1692:0.2777:0.0:0.5531	.	374	Q6NT55	CP4FN_HUMAN	P	374	ENSP00000269703:L374P	ENSP00000269703:L374P	L	+	2	0	CYP4F22	15516075	0.170000	0.23016	0.998000	0.56505	0.993000	0.82548	0.276000	0.18716	0.272000	0.22027	0.496000	0.49642	CTG		TCGA-IB-A7M4-01A-11D-A36O-08	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	1	0	0	7	149	0	36	0	0	0	1	0	36	2		0	0	0	0	0	2	1	0.980016	6	147	0	36	2		0	0	0	0	36	2	-10.137330	1	1	0	0		1	0	0	0	1.979553	0	0.440000	1.980000	0.429967	0.200000	0.090000	0.380000	0.200000	0.224189	0.200000	0	0.140000	0.300000
EPS15L1	58513	broad.mit.edu	37	19	16547778	16547778	+	Silent	SNP	C	C	T	rs33914440	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:16547778C>T	ENST00000248070.6	-	6	481	c.342G>A	c.(340-342)ccG>ccA	p.P114P	EPS15L1_ENST00000455140.2_Silent_p.P114P|EPS15L1_ENST00000602009.1_5'Flank|EPS15L1_ENST00000535753.2_Silent_p.P114P|EPS15L1_ENST00000594975.1_Silent_p.P114P|EPS15L1_ENST00000597937.1_Silent_p.P114P	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1			30					CTGCAGAGGGCGGTGTGACCA	0.522000																								0							SO:0001819	synonymous_variant			ENST00000248070.6	1	0	hg19	CCDS32944.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	0	0	1	47	306	0	83	1	8.456231e-01	7	17	0	83	2		0	0	0	0	0	2	1	1.000000	48	299	0	82	2		0	0	0	0	83	2	-2.857362	1	1	121412	6085	69	1	0	0	0	1.979553	0	0.440000	1.980000	0.429967	0.590000	0.440000	0.760000	0.590000	0.601519	0.590000	0	0.510000	0.680000
DPY19L3	147991	broad.mit.edu	37	19	32971419	32971419	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:32971419C>T	ENST00000342179.5	+	18	2160	c.1945C>T	c.(1945-1947)Cgg>Tgg	p.R649W	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R649W|DPY19L3_ENST00000586987.1_Missense_Mutation_p.R649W	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)			32	Esophageal squamous(110;0.162)				GAGGCACCGCCGGGGCTGCCG	0.632000																								0							SO:0001583	missense			ENST00000342179.5	1	1	hg19	CCDS12422.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596002	0.86953	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.56776	0.44;0.44	5.43	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.70378	0.3217	M	0.77103	2.36	0.50813	D	0.999891	D	0.89917	1.0	D	0.91635	0.999	T	0.74172	-0.3751	10	0.72032	D	0.01	-13.2638	11.7833	0.52028	0.6264:0.3736:0.0:0.0	.	649	Q6ZPD9	D19L3_HUMAN	W	649	ENSP00000376081:R649W;ENSP00000344937:R649W	ENSP00000344937:R649W	R	+	1	2	DPY19L3	37663259	0.949000	0.32298	0.934000	0.37439	0.968000	0.65278	1.706000	0.37878	1.214000	0.43395	0.563000	0.77884	CGG		TCGA-IB-A7M4-01A-11D-A36O-08	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	1	0	0	13	227	0	79	1	7.637243e-02	3	5	0	79	2		0	0	0	0	0	2	1	0.999564	13	225	0	79	2		0	0	0	0	79	2	-3.325330	1	0	121408	1	30	1	0	0	0	1.979553	0	0.440000	1.980000	0.429967	0.240000	0.130000	0.390000	0.240000	0.256911	0.240000	0	0.180000	0.320000
ZNF569	148266	broad.mit.edu	37	19	37903725	37903725	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:37903725C>T	ENST00000316950.6	-	6	2392	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	ZNF569_ENST00000392150.2_Missense_Mutation_p.G453E|ZNF569_ENST00000392149.2_Missense_Mutation_p.G612E	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569			40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		GAAGGCTTTTCCACATTTATT	0.408000																								0							SO:0001583	missense			ENST00000316950.6	1	1	hg19	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575704	0.65878	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.58210	0.35;0.35	4.1	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62109	0.2401	L	0.46819	1.47	0.44890	D	0.997908	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	T	0.63328	-0.6662	9	0.62326	D	0.03	.	11.1105	0.48230	0.0:0.9057:0.0:0.0943	.	453;612	Q17RR6;Q5MCW4	.;ZN569_HUMAN	E	612;268;453	ENSP00000325018:G612E;ENSP00000375993:G453E	ENSP00000325018:G612E	G	-	2	0	ZNF569	42595565	0.996000	0.38824	0.999000	0.59377	0.998000	0.95712	2.285000	0.43487	1.061000	0.40601	0.655000	0.94253	GGA		TCGA-IB-A7M4-01A-11D-A36O-08	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	1	0	1	171	514	0	147	0	6.277213e-02	1	1	0	147	2		0	0	0	0	0	2	1	1.000000	168	504	1	143	17		0	0	0	0	147	2	-20.000000	1	1	0	0		1	0	0	0	1.979553	0	0.440000	1.980000	0.429967	0.990000	0.960000	1.000000	1.000000	0.998340	0.990000	1	0.990000	1.000000
ZNF613	79898	broad.mit.edu	37	19	52448407	52448407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:52448407G>A	ENST00000293471.6	+	6	1950	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G388E|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613			19		all_neural(266;0.117)			ACTCACACTGGAGAGAAACCC	0.418000																								0							SO:0001583	missense			ENST00000293471.6	0	1	hg19	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114923	0.56505	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.25749	1.78;4.74	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002329	T	0.37732	0.1014	L	0.31476	0.935	0.31474	N	0.66797	D	0.89917	1.0	D	0.97110	1.0	T	0.43686	-0.9376	10	0.87932	D	0	.	14.0307	0.64613	0.0:0.0:1.0:0.0	.	424	Q6PF04	ZN613_HUMAN	E	424;388;98	ENSP00000293471:G424E;ENSP00000375671:G388E	ENSP00000293471:G424E	G	+	2	0	ZNF613	57140219	0.974000	0.33945	0.998000	0.56505	0.929000	0.56500	1.109000	0.31135	1.890000	0.54733	0.655000	0.94253	GGA		TCGA-IB-A7M4-01A-11D-A36O-08	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	0	0	0	9	358	0	103	0	7.986632e-02	0	17	0	103	2		0	0	0	0	0	2	1	0.994067	9	354	0	100	2		0	0	0	0	103	2	-3.699657	1	1	0	0		1	1	2	3	2.033799	0	0.440000	1.980000	0.447296	0.110000	0.050000	1.000000	0.110000	0.165510	0.110000	0	0.080000	0.170000
ZNF773	374928	broad.mit.edu	37	19	58016113	58016113	+	Missense_Mutation	SNP	G	G	T	rs140869170		TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr19:58016113G>T	ENST00000282292.4	+	2	262	c.122G>T	c.(121-123)cGc>cTc	p.R41L	AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000598770.1_Missense_Mutation_p.R40L|ZNF773_ENST00000599847.1_Missense_Mutation_p.R41L|ZNF773_ENST00000593916.1_Missense_Mutation_p.R40L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773			22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)			CTCCTCTACCGCAATGTGATG	0.527000																								0							SO:0001583	missense			ENST00000282292.4	1	1	hg19	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792230	0.02884	.	.	ENSG00000152439	ENST00000332030;ENST00000282292	T	0.02709	4.19	1.39	-0.898	0.10550	Krueppel-associated box (4);	.	.	.	.	T	0.04861	0.0131	M	0.69523	2.12	0.09310	N	1	B;B	0.32573	0.376;0.1	B;B	0.37692	0.256;0.154	T	0.32955	-0.9887	9	0.45353	T	0.12	.	5.4787	0.16710	0.3572:0.0:0.6428:0.0	.	40;41	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	L	64;41	ENSP00000282292:R41L	ENSP00000282292:R41L	R	+	2	0	ZNF773	62707925	0.000000	0.05858	0.001000	0.08648	0.769000	0.43574	-0.343000	0.07791	-0.200000	0.10300	0.305000	0.20034	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	1	0	0	92	379	0	133	1	1.013782e-01	2	1	0	133	2		0	0	0	0	0	2	1	1.000000	87	353	0	150	2		0	0	0	0	133	2	-3.553700	1	0	0	0		1	1	2	3	2.049236	0	0.440000	1.980000	0.447296	0.900000	0.740000	1.000000	1.000000	0.902285	0.900000	1	0.810000	1.000000
AGL	178	broad.mit.edu	37	1	100382219	100382219	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:100382219G>A	ENST00000294724.4	+	33	4891	c.4413G>A	c.(4411-4413)ccG>ccA	p.P1471P	AGL_ENST00000370161.2_Silent_p.P1455P|AGL_ENST00000361522.4_Silent_p.P1454P|AGL_ENST00000361302.3_Silent_p.P1455P|AGL_ENST00000370165.3_Silent_p.P1471P|AGL_ENST00000361915.3_Silent_p.P1471P|AGL_ENST00000370163.3_Silent_p.P1471P	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase			69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)			TGATGGGCCCGGAGACTACTG	0.353000																								0							SO:0001819	synonymous_variant			ENST00000294724.4	1	1	hg19	CCDS759.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	1	0	0	17	286	0	82	1	2.658557e-01	3	14	0	82	2		0	0	0	0	0	2	1	0.999965	17	282	0	82	2		0	0	0	0	82	2	-2.807443	1	1	0	0		1	0	1	1	1.966678	0	0.440000	1.980000	0.429967	0.250000	0.150000	0.380000	0.250000	0.262386	0.250000	0	0.190000	0.320000
TBX15	6913	broad.mit.edu	37	1	119441695	119441695	+	Missense_Mutation	SNP	C	C	T	rs141002143	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:119441695C>T	ENST00000369429.3	-	7	989	c.980G>A	c.(979-981)cGc>cAc	p.R327H	TBX15_ENST00000207157.3_Missense_Mutation_p.R221H			Q96SF7	TBX15_HUMAN	T-box 15			37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)			GGTGAGTGTGCGCACAGGAGG	0.493000																								0							SO:0001583	missense			ENST00000369429.3	1	0	hg19		4	0.0018315018315018315	1	0.0020325203252032522	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	33	5.284276	0.95517	0.004085	0.0	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	D;D;D	0.88664	-2.41;-2.34;-1.7	5.65	5.65	0.86999	.	0.129767	0.49305	D	0.000159	D	0.92678	0.7673	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.987;0.98	D	0.92398	0.5927	10	0.66056	D	0.02	.	20.073	0.97731	0.0:1.0:0.0:0.0	.	91;327	E9PCG3;Q96SF7	.;TBX15_HUMAN	H	91;221;327;22;21	ENSP00000207157:R221H;ENSP00000358437:R327H;ENSP00000398625:R22H	ENSP00000207157:R221H	R	-	2	0	TBX15	119243218	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.181000	0.77682	2.811000	0.96726	0.655000	0.94253	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	1	0	1	44	257	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	1.000000	42	250	0	83	2		0	0	0	0	83	2	-2.718232	1	1	121404	57	50	1	0	0	0	1.936642	0	0.440000	1.980000	0.419569	0.630000	0.470000	0.820000	0.640000	0.648315	0.630000	0	0.550000	0.730000
IVL	3713	broad.mit.edu	37	1	152882593	152882593	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:152882593A>G	ENST00000368764.3	+	2	384	c.320A>G	c.(319-321)cAg>cGg	p.Q107R	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin			29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)		CCAGAGCAGCAGCTTAAGCAG	0.488000																								0							SO:0001583	missense			ENST00000368764.3	1	1	hg19	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	10.78	1.447930	0.26074	.	.	ENSG00000163207	ENST00000368764	T	0.10573	2.86	4.46	3.29	0.37713	.	.	.	.	.	T	0.07279	0.0184	N	0.19112	0.55	0.47407	D	0.999415	D	0.59357	0.985	D	0.65233	0.933	T	0.31081	-0.9956	9	0.33141	T	0.24	.	8.638	0.33959	0.8286:0.0:0.0:0.1714	.	107	P07476	INVO_HUMAN	R	107	ENSP00000357753:Q107R	ENSP00000357753:Q107R	Q	+	2	0	IVL	151149217	0.000000	0.05858	0.055000	0.19348	0.058000	0.15608	0.047000	0.14056	0.800000	0.34041	0.402000	0.26972	CAG		TCGA-IB-A7M4-01A-11D-A36O-08	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	1	0	1	38	178	0	68		0	0	0	0	68	2		0	0	0	0	0	2	1	1.000000	38	174	0	67	2		0	0	0	0	68	2	-20.000000	1	1	0	0		1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.760000	0.550000	0.980000	0.760000	0.771027	0.760000	0	0.650000	0.880000
ZBTB7B	51043	broad.mit.edu	37	1	154988280	154988280	+	Silent	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:154988280C>A	ENST00000368426.3	+	3	1281	c.1144C>A	c.(1144-1146)Cga>Aga	p.R382R	ZBTB7B_ENST00000417934.2_Silent_p.R416R|ZBTB7B_ENST00000535420.1_Silent_p.R382R|ZBTB7B_ENST00000292176.2_Silent_p.R382R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B			29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)		CTGCGGTGTTCGATTCACCAG	0.632000																								0							SO:0001819	synonymous_variant			ENST00000368426.3	1	0	hg19	CCDS1081.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	1	0	0	11	237	0	59	0	7.170339e-01	0	55	0	59	2		0	0	0	0	0	2	1	0.998253	11	232	0	58	2		0	0	0	0	59	2	-12.752270	1	1	0	0		1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.190000	0.100000	0.330000	0.190000	0.207398	0.190000	0	0.140000	0.260000
FCRL2	79368	broad.mit.edu	37	1	157736756	157736756	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:157736756C>G	ENST00000361516.3	-	7	1216	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	FCRL2_ENST00000469986.1_Missense_Mutation_p.D137H|FCRL2_ENST00000392274.3_Missense_Mutation_p.D390H|FCRL2_ENST00000368181.4_Missense_Mutation_p.D106H	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2			51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)		CTATAGCCATCAGGTCCTGAG	0.443000																								0							SO:0001583	missense			ENST00000361516.3	0	1	hg19	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066107	0.20067	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274;ENST00000469986	T;T;T;T	0.22336	2.06;3.62;1.96;3.04	3.22	-4.53	0.03462	.	4.697510	0.00866	U	0.001962	T	0.06962	0.0177	L	0.40543	1.245	0.09310	N	1	P;P;B;B	0.47762	0.9;0.799;0.032;0.376	P;B;B;B	0.45913	0.497;0.263;0.025;0.071	T	0.10520	-1.0626	10	0.52906	T	0.07	.	1.3638	0.02197	0.1577:0.2103:0.156:0.476	.	390;106;390;137	B4DVJ9;Q96LA5-5;Q96LA5;Q96LA5-2	.;.;FCRL2_HUMAN;.	H	106;390;106;390;137	ENSP00000355157:D390H;ENSP00000357163:D106H;ENSP00000376100:D390H;ENSP00000417393:D137H	ENSP00000292389:D106H	D	-	1	0	FCRL2	156003380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.231000	0.00548	-0.956000	0.03631	-0.140000	0.14226	GAT		TCGA-IB-A7M4-01A-11D-A36O-08	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	0	0	0	4	220	0	65	0	5.451211e-03	0	5	0	65	2		0	0	0	0	0	2	1	0.887979	4	217	0	65	2		0	0	0	0	65	2	-2.860572	1	1	0	0		1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.080000	0.020000	0.190000	0.080000	0.095521	0.080000	0	0.040000	0.140000
PLXNA2	5362	broad.mit.edu	37	1	208390894	208390894	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:208390894C>T	ENST00000367033.3	-	2	1131	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2			80					GGCCAGCAGGCGGTTCTCAGA	0.577000																								0							SO:0001583	missense			ENST00000367033.3	1	1	hg19	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793291	0.90453	.	.	ENSG00000076356	ENST00000367033	T	0.10573	2.86	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.43798	-0.9369	10	0.87932	D	0	.	19.7016	0.96057	0.0:1.0:0.0:0.0	.	179;125	O75051-2;O75051	.;PLXA2_HUMAN	H	125	ENSP00000356000:R125H	ENSP00000356000:R125H	R	-	2	0	PLXNA2	206457517	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.512000	0.81728	2.662000	0.90505	0.514000	0.50259	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	1	0	1	112	362	0	144	0	5.219958e-01	1	6	0	144	2		0	0	0	0	0	2	1	1.000000	110	357	0	142	2		0	0	0	0	144	2	-4.936967	1	1	121412	1	34	1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.990000	0.860000	1.000000	1.000000	0.978796	0.990000	1	0.930000	1.000000
LYST	1130	broad.mit.edu	37	1	235944227	235944227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:235944227G>A	ENST00000389794.3	-	16	5326	c.5152C>T	c.(5152-5154)Cga>Tga	p.R1718*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R1718*|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator			162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		TGTTCACATCGCAAAATTTCT	0.294000																								0							SO:0001587	stop_gained			ENST00000389794.3	0	1	hg19	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.019982	0.99627	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.05	4.11	0.48088	.	0.354342	0.31872	N	0.006937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6163	0.56578	0.0:0.0:0.6889:0.3111	.	.	.	.	X	1718	.	ENSP00000374443:R1718X	R	-	1	2	LYST	234010850	0.998000	0.40836	0.850000	0.33497	0.976000	0.68499	2.716000	0.47219	1.193000	0.43086	0.467000	0.42956	CGA		TCGA-IB-A7M4-01A-11D-A36O-08	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5	0	0	0	6	368	0	83	0	3.929659e-04	0	2	0	83	2		0	0	0	0	0	2	1	0.964699	6	366	0	82	2		0	0	0	0	83	2	-3.027400	1	1	0	0		1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.070000	0.020000	0.140000	0.070000	0.080594	0.070000	0	0.040000	0.110000
RYR2	6262	broad.mit.edu	37	1	237780691	237780691	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:237780691C>T	ENST00000366574.2	+	38	6138	c.5821C>T	c.(5821-5823)Cgt>Tgt	p.R1941C	RYR2_ENST00000542537.1_Missense_Mutation_p.R1925C|RYR2_ENST00000360064.6_Missense_Mutation_p.R1939C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		AGACAATCAACGTTTCCGATA	0.473000																								0							SO:0001583	missense			ENST00000366574.2	0	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152395	0.57259	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73897	-0.79;-0.79;-0.79	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000005	T	0.67078	0.2855	L	0.39397	1.21	0.80722	D	1	D	0.55800	0.973	B	0.41813	0.367	T	0.71708	-0.4511	10	0.56958	D	0.05	.	14.0546	0.64759	0.1508:0.8492:0.0:0.0	.	1941	Q92736	RYR2_HUMAN	C	1941;1939;1925	ENSP00000355533:R1941C;ENSP00000353174:R1939C;ENSP00000443798:R1925C	ENSP00000353174:R1939C	R	+	1	0	RYR2	235847314	0.849000	0.29639	0.949000	0.38748	0.983000	0.72400	1.765000	0.38481	2.517000	0.84864	0.650000	0.86243	CGT		TCGA-IB-A7M4-01A-11D-A36O-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	0	0	4	235	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	0.891119	4	235	0	52	2		0	0	0	0	52	2	-5.516103	1	0	120904	3	40	1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.070000	0.020000	0.170000	0.070000	0.089607	0.070000	0	0.040000	0.130000
KIF26B	55083	broad.mit.edu	37	1	245772663	245772663	+	Missense_Mutation	SNP	C	C	T	rs115703444	by1000genomes	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:245772663C>T	ENST00000407071.2	+	8	2187	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R202C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B			51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)		CATAAACGAACGCAAGGAAAA	0.567000																								0							SO:0001583	missense			ENST00000407071.2	1	1	hg19	CCDS44342.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.12	2.440500	0.43326	2.6E-4	0.0	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76060	-0.99;-0.99	5.22	5.22	0.72569	Kinesin, motor domain (4);	.	.	.	.	T	0.79015	0.4375	L	0.52364	1.645	0.80722	D	1	P;P	0.48407	0.91;0.869	P;P	0.51550	0.488;0.673	T	0.80223	-0.1471	9	0.56958	D	0.05	.	19.1397	0.93443	0.0:1.0:0.0:0.0	.	202;583	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	583;202;199	ENSP00000385545:R583C;ENSP00000355475:R202C	ENSP00000355475:R202C	R	+	1	0	KIF26B	243839286	1.000000	0.71417	0.976000	0.42696	0.742000	0.42306	2.108000	0.41854	2.590000	0.87494	0.650000	0.86243	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	1	0	1	17	79	0	30	0	2.322260e-01	1	4	0	30	2		0	0	0	0	0	2	1	0.999975	17	76	0	29	2		0	0	0	0	30	2	-20.000000	1	1	120844	18	40	1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.770000	0.480000	1.000000	1.000000	0.776739	0.770000	0	0.610000	0.950000
OR14C36	127066	broad.mit.edu	37	1	248513002	248513002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:248513002C>A	ENST00000317861.1	+	1	926	c.926C>A	c.(925-927)tCa>tAa	p.S309*		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36			43					ATTTTTTATTCAGAAAATGTG	0.328000																								0							SO:0001587	stop_gained			ENST00000317861.1	0	1	hg19	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118676	0.37436	.	.	ENSG00000177174	ENST00000317861	.	.	.	3.07	3.07	0.35406	.	1.879040	0.04039	U	0.302756	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9262	0.41494	0.0:1.0:0.0:0.0	.	.	.	.	X	309	.	ENSP00000324534:S309X	S	+	2	0	OR14C36	246579625	0.000000	0.05858	0.235000	0.24058	0.127000	0.20565	-0.623000	0.05546	1.773000	0.52216	0.388000	0.25769	TCA		TCGA-IB-A7M4-01A-11D-A36O-08	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	0	0	0	10	374	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	0.996848	9	372	0	107	2		0	0	0	0	107	2	-2.797699	1	1	0	0		1	0	0	0	1.927308	0	0.440000	1.980000	0.414226	0.110000	0.050000	0.200000	0.110000	0.123382	0.110000	0	0.080000	0.160000
MEGF6	1953	broad.mit.edu	37	1	3511972	3511972	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:3511972C>T	ENST00000356575.4	-	3	532	c.306G>A	c.(304-306)acG>acA	p.T102T		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6			19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)			TCCGGGCCTCCGTGGTATACA	0.637000													Ovarian(73;978 3658)											0							SO:0001819	synonymous_variant			ENST00000356575.4	1	1	hg19	CCDS41237.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	1	0	0	23	285	0	102	0	6.223421e-03	0	2	0	102	2		0	0	0	0	0	2	1	0.999999	23	279	0	102	2		0	0	0	0	102	2	-2.879466	1	1	120880	14	42	1	0	0	0	1.902310	0	0.440000	1.980000	0.408784	0.320000	0.200000	0.460000	0.320000	0.331765	0.320000	0	0.260000	0.390000
STIL	6491	broad.mit.edu	37	1	47748097	47748097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr1:47748097T>C	ENST00000360380.3	-	12	1531	c.1168A>G	c.(1168-1170)Ata>Gta	p.I390V	STIL_ENST00000371877.3_Missense_Mutation_p.I390V|STIL_ENST00000396221.2_Missense_Mutation_p.I390V|STIL_ENST00000243182.6_Missense_Mutation_p.I390V|STIL_ENST00000337817.5_Missense_Mutation_p.I390V	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus			36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)			TGATCATGTATTGGCATCTTC	0.388000																								0							SO:0001583	missense			ENST00000360380.3	1	1	hg19	CCDS548.1	.	.	.	.	.	.	.	.	.	.	T	0.547	-0.850932	0.02651	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.74	-4.22	0.03800	.	0.663385	0.16965	N	0.192348	T	0.17916	0.0430	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.003	T	0.33701	-0.9858	10	0.08599	T	0.76	-1.1589	9.5812	0.39488	0.0:0.5654:0.122:0.3126	.	390;343;390;390;390	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	V	390;390;390;390;390;343	ENSP00000353544:I390V;ENSP00000337367:I390V;ENSP00000360944:I390V;ENSP00000379523:I390V;ENSP00000243182:I390V;ENSP00000411664:I343V	ENSP00000243182:I390V	I	-	1	0	STIL	47520684	0.053000	0.20554	0.184000	0.23157	0.125000	0.20455	-0.250000	0.08830	-0.747000	0.04759	0.459000	0.35465	ATA		TCGA-IB-A7M4-01A-11D-A36O-08	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	1	0	1	95	364	0	116	0	2.800527e-01	1	4	0	116	2		0	0	0	0	0	2	1	1.000000	92	360	0	115	2		0	0	0	0	116	2	-20.000000	1	1	0	0		1	0	0	0	1.943490	0	0.440000	1.980000	0.419569	0.900000	0.740000	1.000000	1.000000	0.904158	0.900000	1	0.820000	0.990000
HM13	81502	broad.mit.edu	37	20	30125989	30125989	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30125989C>G	ENST00000340852.5	+	3	414	c.290C>G	c.(289-291)tCc>tGc	p.S97C	HM13_ENST00000335574.5_Missense_Mutation_p.S97C|HM13_ENST00000376127.3_Missense_Mutation_p.S97C|HM13_ENST00000398174.3_Missense_Mutation_p.S97C	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13			12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		CAGATATTCTCCCAGGAGTAC	0.512000																								0							SO:0001583	missense			ENST00000340852.5	1	1	hg19	CCDS13182.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826944	0.90955	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.46	5.46	0.80206	.	0.098626	0.64402	D	0.000001	T	0.57666	0.2069	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.987;0.982;0.987	T	0.67692	-0.5605	10	0.62326	D	0.03	-3.5946	17.8794	0.88835	0.0:1.0:0.0:0.0	.	97;97;97;97	Q8TCT9;Q8TCT9-4;Q8TCT9-2;Q8TCT9-5	HM13_HUMAN;.;.;.	C	97	ENSP00000335294:S97C;ENSP00000343032:S97C;ENSP00000381237:S97C;ENSP00000365296:S97C;ENSP00000341347:S97C	ENSP00000335294:S97C	S	+	2	0	HM13	29589650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.840000	0.75369	2.567000	0.86603	0.655000	0.94253	TCC		TCGA-IB-A7M4-01A-11D-A36O-08	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2	1	0	1	68	385	0	76	1	1	67	247	0	76	2		0	0	0	0	0	2	1	1.000000	68	381	0	76	2		0	0	0	0	76	2	-3.019294	1	1	0	0		1	1	3	4	2.488582	1	0.440000	1.980000	0.561541	0.900000	0.690000	1.000000	1.000000	0.901692	0.900000	1	0.790000	1.000000
MYLK2	85366	broad.mit.edu	37	20	30414610	30414610	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:30414610G>A	ENST00000375994.2	+	7	1366	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G365R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2			33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		CATCGAGGGCGGAGAGCTCTT	0.587000																								0							SO:0001583	missense			ENST00000375994.2	0	1	hg19	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370531	0.82573	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.57273	0.41;0.41	3.66	3.66	0.41972	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70168	0.3193	M	0.83012	2.62	0.58432	D	0.999999	D	0.67145	0.996	P	0.59595	0.86	T	0.77606	-0.2525	9	0.87932	D	0	.	14.5797	0.68278	0.0:0.0:1.0:0.0	.	365	Q9H1R3	MYLK2_HUMAN	R	365	ENSP00000365162:G365R;ENSP00000365152:G365R	ENSP00000365152:G365R	G	+	1	0	MYLK2	29878271	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.494000	0.97962	1.882000	0.54519	0.435000	0.28638	GGA		TCGA-IB-A7M4-01A-11D-A36O-08	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	0	0	0	6	171	0	45		0	0	0	0	45	2		0	0	0	0	0	2	1	0.961928	6	165	0	45	2		0	0	0	0	45	2	-8.282029	1	1	121412	1	29	1	1	3	4	2.488582	1	0.440000	1.980000	0.561541	0.240000	0.080000	1.000000	0.200000	0.400511	0.240000	0	0.150000	1.000000
TOP1	7150	broad.mit.edu	37	20	39750710	39750710	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:39750710C>A	ENST00000361337.2	+	20	2360	c.2110C>A	c.(2110-2112)Caa>Aaa	p.Q704K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I			37		Myeloproliferative disorder(115;0.00878)		Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GCTGGAAGTTCAAGCCACAGA	0.478000			T	NUP98	AML*										Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0							SO:0001583	missense			ENST00000361337.2	0	1	hg19	CCDS13312.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595991	0.66332	.	.	ENSG00000198900	ENST00000361337	T	0.47869	0.83	5.91	4.93	0.64822	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);	0.101665	0.64402	D	0.000001	T	0.50531	0.1621	M	0.67569	2.06	0.80722	D	1	B	0.20261	0.043	B	0.26969	0.075	T	0.50825	-0.8782	10	0.52906	T	0.07	-14.8363	16.5333	0.84366	0.131:0.869:0.0:0.0	.	704	P11387	TOP1_HUMAN	K	704	ENSP00000354522:Q704K	ENSP00000354522:Q704K	Q	+	1	0	TOP1	39184124	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.802000	0.62539	2.793000	0.96121	0.655000	0.94253	CAA		TCGA-IB-A7M4-01A-11D-A36O-08	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2	0	0	0	19	610	0	125	1	9.995536e-01	4	394	0	125	2		0	0	0	0	0	2	1	0.999988	18	594	0	122	2		0	0	0	0	125	2	-2.149438	0	1	0	0		1	0	6	6	2.522433	1	0.440000	1.980000	0.547511	0.180000	0.100000	1.000000	0.180000	0.333476	0.180000	0	0.130000	1.000000
BMP2	650	broad.mit.edu	37	20	6759506	6759506	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr20:6759506C>G	ENST00000378827.4	+	3	2180	c.961C>G	c.(961-963)Cac>Gac	p.H321D		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2			13					CCCGGGGTATCACGCCTTTTA	0.512000																								0							SO:0001583	missense			ENST00000378827.4	1	1	hg19	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	8.617	0.890572	0.17613	.	.	ENSG00000125845	ENST00000378827	D	0.83673	-1.75	5.57	5.57	0.84162	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.132179	0.64402	D	0.000002	T	0.69378	0.3104	N	0.10664	0.02	0.53005	D	0.999968	B	0.14012	0.009	B	0.15052	0.012	T	0.65944	-0.6045	10	0.52906	T	0.07	.	14.6309	0.68655	0.1798:0.8202:0.0:0.0	.	321	P12643	BMP2_HUMAN	D	321	ENSP00000368104:H321D	ENSP00000368104:H321D	H	+	1	0	BMP2	6707506	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.436000	0.44819	2.775000	0.95449	0.650000	0.86243	CAC		TCGA-IB-A7M4-01A-11D-A36O-08	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3	1	0	0	19	224	0	77	1	7.420389e-01	9	24	0	77	2		0	0	0	0	0	2	1	0.999992	19	222	0	76	2		0	0	0	0	77	2	-7.380157	1	1	0	0		1	0	1	1	1.537272	1	0.440000	1.980000	0.286079	0.270000	0.170000	0.410000	0.280000	0.288081	0.270000	0	0.220000	0.350000
ADAMTS5	11096	broad.mit.edu	37	21	28315795	28315795	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr21:28315795G>A	ENST00000284987.5	-	3	1430	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5			72					GACATTAAGCGCTTATCTTCT	0.453000													Esophageal Squamous(53;683 1080 10100 14424 45938)											0							SO:0001583	missense			ENST00000284987.5	1	1	hg19	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445910	0.84101	.	.	ENSG00000154736	ENST00000284987	T	0.21543	2.0	5.4	5.4	0.78164	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	N	0.00405	-1.535	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.60556	-0.7240	10	0.87932	D	0	.	15.0918	0.72201	0.0:0.0:0.858:0.142	.	437	Q9UNA0	ATS5_HUMAN	C	437	ENSP00000284987:R437C	ENSP00000284987:R437C	R	-	1	0	ADAMTS5	27237666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.848000	0.62874	2.828000	0.97474	0.650000	0.86243	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	0	0	0	9	236	0	65	0	1.795742e-03	0	2	0	65	2		0	0	0	0	0	2	1	0.994467	9	236	0	65	2		0	0	0	0	65	2	-3.826209	1	1	121406	7	38	1	1	2	3	2.048140	0	0.440000	1.980000	0.446093	0.170000	0.080000	1.000000	0.170000	0.216056	0.170000	0	0.120000	0.250000
CNTNAP5	129684	broad.mit.edu	37	2	125671709	125671709	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:125671709C>T	ENST00000431078.1	+	24	4129	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	p.I1255I(1)		176					TCTGTATCATCGGCATCATGA	0.468000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000431078.1	1	1	hg19	CCDS46401.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	1	0	0	25	477	1	138		0	0	0	1	138	2		0	0	0	0	0	2	1	0.973005	25	471	1	136	14		0	0	0	1	138	2	-3.295186	1	1	120902	4	44	1	1	2	3	2.033132	0	0.440000	1.980000	0.446093	0.230000	0.140000	1.000000	0.230000	0.265476	0.230000	0	0.180000	0.290000
MYO7B	4648	broad.mit.edu	37	2	128335762	128335762	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:128335762C>T	ENST00000409816.2	+	8	936	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	MYO7B_ENST00000428314.1_Missense_Mutation_p.R302C|MYO7B_ENST00000389524.4_Missense_Mutation_p.R302C			Q6PIF6	MYO7B_HUMAN	myosin VIIB			75	Colorectal(110;0.1)				CGCCCACATCCGCTCGGCCAT	0.622000																								0							SO:0001583	missense			ENST00000409816.2	1	1	hg19	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740794	0.69304	0.0	1.18E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88431	-2.38;-2.38;-2.38	4.25	3.36	0.38483	Myosin head, motor domain (2);	0.061993	0.64402	D	0.000003	D	0.87569	0.6210	M	0.79475	2.455	0.80722	D	1	P	0.40250	0.709	B	0.36289	0.221	D	0.88167	0.2861	10	0.87932	D	0	.	12.4074	0.55447	0.0:0.9171:0.0:0.0828	.	302	Q6PIF6	MYO7B_HUMAN	C	302	ENSP00000374175:R302C;ENSP00000415090:R302C;ENSP00000386461:R302C	ENSP00000374175:R302C	R	+	1	0	MYO7B	128052232	0.998000	0.40836	0.872000	0.34217	0.964000	0.63967	3.741000	0.55090	1.136000	0.42199	0.563000	0.77884	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	1	0	1	33	171	0	45	1	3.890862e-01	3	5	0	45	2		0	0	0	0	0	2	1	1.000000	32	168	0	44	2		0	0	0	0	45	2	-20.000000	1	1	121120	2	35	1	1	2	3	2.033132	0	0.440000	1.980000	0.446093	0.740000	0.530000	1.000000	0.740000	0.761996	0.740000	0	0.630000	0.890000
SCN9A	6335	broad.mit.edu	37	2	167141148	167141148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:167141148G>A	ENST00000409435.1	-	11	1788	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Nonsense_Mutation_p.R597*|SCN9A_ENST00000303354.6_Nonsense_Mutation_p.R598*|SCN9A_ENST00000375387.4_Nonsense_Mutation_p.R598*			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit			108				Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGCTGCGTCGCTCCTGGGGT	0.542000																								0							SO:0001587	stop_gained			ENST00000409435.1	0	1	hg19	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918909	0.73098	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	5.64	3.8	0.43715	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1065	0.72324	0.0:0.0:0.7411:0.2589	.	.	.	.	X	597;598;598;597;462;462	.	ENSP00000304748:R598X	R	-	1	2	SCN9A	166849394	0.826000	0.29277	1.000000	0.80357	0.365000	0.29674	1.783000	0.38664	0.812000	0.34326	-0.270000	0.10280	CGA		TCGA-IB-A7M4-01A-11D-A36O-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	0	26	363	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	1.000000	26	351	0	120	2		0	0	0	0	121	2	-3.221912	1	1	0	0		1	1	2	3	2.033132	0	0.440000	1.980000	0.446093	0.310000	0.200000	1.000000	0.310000	0.342287	0.310000	0	0.250000	0.380000
ITGA6	3655	broad.mit.edu	37	2	173356152	173356152	+	Splice_Site	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:173356152G>A	ENST00000264106.6	+	24	3209		c.e24-1		AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Splice_Site|ITGA6_ENST00000264107.7_Splice_Site|ITGA6_ENST00000409080.1_Splice_Site|ITGA6_ENST00000375221.2_Splice_Site|ITGA6_ENST00000343713.4_Splice_Site			P23229	ITA6_HUMAN	integrin, alpha 6	p.?(2)		44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)		TCTCCAAACAGGAATATTCCA	0.463000																								2	Unknown(2)						SO:0001630	splice_region_variant			ENST00000264106.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	17.51	3.408478	0.62399	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7456	0.91791	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA6	173064398	1.000000	0.71417	0.998000	0.56505	0.705000	0.40729	8.573000	0.90759	2.432000	0.82394	0.467000	0.42956	.		TCGA-IB-A7M4-01A-11D-A36O-08	ITGA6-201	KNOWN	basic	protein_coding	protein_coding		1	0	0	15	322	0	83	0	0	0	1	0	83	2		0	0	0	0	0	2	1	0.999872	15	319	0	83	2		0	0	0	0	83	2	-2.989364	1	1	0	0		1	1	2	3	2.033132	0	0.440000	1.980000	0.446093	0.200000	0.110000	1.000000	0.200000	0.245865	0.200000	0	0.150000	0.280000
WIPF1	7456	broad.mit.edu	37	2	175436585	175436585	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:175436585G>A	ENST00000392547.2	-	5	1047	c.948C>T	c.(946-948)ccC>ccT	p.P316P	WIPF1_ENST00000409415.3_Silent_p.P316P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000272746.5_Silent_p.P316P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P316P|WIPF1_ENST00000409891.1_Silent_p.P316P|WIPF1_ENST00000359761.3_Silent_p.P316P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1			32					GAGGCGGCCCGGGCCTGCTGG	0.662000																								0							SO:0001819	synonymous_variant			ENST00000392547.2	1	1	hg19	CCDS2260.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	1	0	1	34	148	0	57	1	9.991404e-01	2	49	0	57	2		0	0	0	0	0	2	1	1.000000	33	145	0	57	2		0	0	0	0	57	2	-3.208148	1	1	121396	1	32	1	1	2	3	2.033132	0	0.440000	1.980000	0.446093	0.860000	0.620000	1.000000	1.000000	0.861510	0.860000	1	0.730000	1.000000
COL6A3	1293	broad.mit.edu	37	2	238280504	238280504	+	Missense_Mutation	SNP	C	C	T	rs146092501	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr2:238280504C>T	ENST00000295550.4	-	9	4608	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K	COL6A3_ENST00000472056.1_Missense_Mutation_p.E779K|COL6A3_ENST00000409809.1_Missense_Mutation_p.E1180K|COL6A3_ENST00000392004.3_Missense_Mutation_p.E1180K|COL6A3_ENST00000353578.4_Missense_Mutation_p.E1180K|COL6A3_ENST00000346358.4_Missense_Mutation_p.E1186K|COL6A3_ENST00000392003.2_Missense_Mutation_p.E979K|COL6A3_ENST00000347401.3_Missense_Mutation_p.E1185K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3			217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)			AACACATATTCGGGGCTCAGC	0.617000																								0		GRCh37	CM050230	COL6A3	M	rs146092501	SO:0001583	missense			ENST00000295550.4	1	0	hg19	CCDS33412.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	C	17.41	3.383806	0.61845	9.08E-4	0.004884	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.64	5.64	0.86602	von Willebrand factor, type A (3);	0.108957	0.40144	N	0.001174	T	0.77438	0.4130	L	0.33293	1	0.09310	N	0.999993	D;D;D;D;D	0.64830	0.99;0.981;0.961;0.994;0.986	P;P;P;P;P	0.60415	0.874;0.745;0.658;0.746;0.588	T	0.70425	-0.4875	10	0.23302	T	0.38	.	9.5113	0.39078	0.0:0.7818:0.1441:0.0741	.	779;979;1180;1180;1386	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	K	1386;1185;1180;779;1180;1186;1180;979	ENSP00000295550:E1386K;ENSP00000315609:E1185K;ENSP00000315873:E1180K;ENSP00000418285:E779K;ENSP00000386844:E1180K;ENSP00000295546:E1186K;ENSP00000375861:E1180K;ENSP00000375860:E979K	ENSP00000295550:E1386K	E	-	1	0	COL6A3	237945243	0.862000	0.29867	0.876000	0.34364	0.398000	0.30690	1.784000	0.38674	2.659000	0.90383	0.650000	0.86243	GAA		TCGA-IB-A7M4-01A-11D-A36O-08	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	0	0	1	69	286	0	99	1	1	2	109	0	99	2		0	0	0	0	0	2	1	1.000000	68	282	0	99	2		0	0	0	0	99	2	-2.172057	0	1	121412	726	61	1	1	2	3	2.033132	0	0.440000	1.980000	0.446093	0.890000	0.710000	1.000000	1.000000	0.894332	0.890000	1	0.790000	1.000000
IQCB1	9657	broad.mit.edu	37	3	121526279	121526279	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:121526279C>A	ENST00000310864.6	-	7	713	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	IQCB1_ENST00000349820.6_Missense_Mutation_p.D167Y	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1			30					AAGAAATGATCACTTTGTAGT	0.308000																								0							SO:0001583	missense			ENST00000310864.6	0	1	hg19	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849869	0.51270	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.36520	1.25;2.89	5.2	5.2	0.72013	.	0.355758	0.34156	N	0.004215	T	0.41282	0.1152	L	0.27053	0.805	0.31110	N	0.710065	P;D	0.63046	0.91;0.992	B;P	0.56960	0.424;0.81	T	0.44605	-0.9317	10	0.72032	D	0.01	-6.9459	14.1128	0.65134	0.0:1.0:0.0:0.0	.	167;167	Q15051;Q15051-2	IQCB1_HUMAN;.	Y	167	ENSP00000311505:D167Y;ENSP00000323756:D167Y	ENSP00000311505:D167Y	D	-	1	0	IQCB1	123008969	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.598000	0.36740	2.706000	0.92434	0.557000	0.71058	GAT		TCGA-IB-A7M4-01A-11D-A36O-08	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1	0	0	0	19	909	1	198	0	1.373876e-01	0	30	1	198	2		0	0	0	0	0	2	1	0.682396	19	901	1	197	17		0	0	0	1	198	2	-2.527107	1	1	0	0		1	2	2	4	2.113889	0	0.440000	1.980000	0.468085	0.090000	0.050000	1.000000	0.090000	0.189501	0.090000	0	0.070000	0.140000
NPHP3	27031	broad.mit.edu	37	3	132407536	132407536	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:132407536C>T	ENST00000337331.5	-	21	3169	c.3083G>A	c.(3082-3084)cGt>cAt	p.R1028H	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)			42					TTCAAGTTCACGAGCAGTATA	0.388000																								0							SO:0001583	missense			ENST00000337331.5	1	1	hg19	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683896	0.88639	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	T	0.64085	-0.08	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.72481	-0.4280	10	0.52906	T	0.07	-17.9717	19.5469	0.95302	0.0:1.0:0.0:0.0	.	1028	Q7Z494	NPHP3_HUMAN	H	308;90;1028	ENSP00000338766:R1028H	ENSP00000338766:R1028H	R	-	2	0	NPHP3	133890226	1.000000	0.71417	0.896000	0.35187	0.560000	0.35617	5.823000	0.69272	2.632000	0.89209	0.491000	0.48974	CGT		TCGA-IB-A7M4-01A-11D-A36O-08	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	1	0	0	76	804	0	213	1	3.802078e-01	4	11	0	213	2		0	0	0	0	0	2	1	1.000000	73	792	0	213	2		0	0	0	0	213	2	-18.324050	1	1	121412	3	41	1	2	2	4	2.113889	0	0.440000	1.980000	0.468085	0.410000	0.320000	1.000000	0.410000	0.473565	0.410000	0	0.360000	0.490000
EIF4G1	1981	broad.mit.edu	37	3	184043334	184043334	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:184043334G>A	ENST00000346169.2	+	20	3299	c.3028G>A	c.(3028-3030)Gag>Aag	p.E1010K	EIF4G1_ENST00000411531.1_Missense_Mutation_p.E971K|EIF4G1_ENST00000352767.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000392537.2_Missense_Mutation_p.E923K|EIF4G1_ENST00000382330.3_Missense_Mutation_p.E1017K|EIF4G1_ENST00000427845.1_Missense_Mutation_p.E924K|EIF4G1_ENST00000350481.5_Missense_Mutation_p.E846K|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000434061.2_Missense_Mutation_p.E815K|EIF4G1_ENST00000435046.2_Missense_Mutation_p.E814K|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.E847K|EIF4G1_ENST00000342981.4_Missense_Mutation_p.E1011K|EIF4G1_ENST00000414031.1_Missense_Mutation_p.E970K|EIF4G1_ENST00000319274.6_Missense_Mutation_p.E1010K|EIF4G1_ENST00000424196.1_Missense_Mutation_p.E1017K	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1			75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		TAAGGAGGCTGAGATGGAAGA	0.577000																								0							SO:0001583	missense			ENST00000346169.2	0	1	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293252	0.23564	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04706	3.82;3.81;3.73;3.81;3.6;3.81;3.74;3.82;3.82;3.81;3.81;3.6;3.57;3.57	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25312	0.123;0.063;0.059	B;B;B	0.25506	0.061;0.019;0.019	T	0.20571	-1.0271	10	0.05833	T	0.94	-17.1574	19.4726	0.94969	0.0:0.0:1.0:0.0	.	1017;1011;1010	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	K	1010;970;923;1017;846;1017;924;1011;1010;1017;971;847;815;814	ENSP00000316879:E1010K;ENSP00000391935:E970K;ENSP00000376320:E923K;ENSP00000371767:E1017K;ENSP00000317600:E846K;ENSP00000338020:E1017K;ENSP00000407682:E924K;ENSP00000343450:E1011K;ENSP00000323737:E1010K;ENSP00000416255:E1017K;ENSP00000395974:E971K;ENSP00000399858:E847K;ENSP00000411826:E815K;ENSP00000404754:E814K	ENSP00000323737:E1010K	E	+	1	0	EIF4G1	185526028	1.000000	0.71417	0.972000	0.41901	0.947000	0.59692	6.342000	0.72982	2.618000	0.88619	0.561000	0.74099	GAG		TCGA-IB-A7M4-01A-11D-A36O-08	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	0	0	0	8	624	0	163	1	9.316506e-01	2	369	0	163	2		0	0	0	0	0	2	1	0.988941	8	618	0	163	2		0	0	0	0	163	2	-3.075490	1	1	0	0		1	2	2	4	2.113889	0	0.440000	1.980000	0.468085	0.060000	0.020000	1.000000	0.070000	0.157969	0.060000	0	0.040000	0.110000
RPL14	9045	broad.mit.edu	37	3	40503613	40503613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr3:40503613G>A	ENST00000396203.2	+	6	670	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	RPL14_ENST00000416518.1_3'UTR|RPL14_ENST00000338970.6_Missense_Mutation_p.A180T	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14								GAAGGTTCCTGCCCAGAAAGC	0.552000																								0							SO:0001583	missense			ENST00000396203.2	1	1	hg19	CCDS43070.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638177	0.29157	.	.	ENSG00000188846	ENST00000338970;ENST00000396203	T;T	0.51071	0.72;0.72	4.03	3.15	0.36227	.	0.000000	0.42821	U	0.000651	T	0.32194	0.0821	L	0.27053	0.805	0.22479	N	0.999065	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.66056	D	0.02	.	8.253	0.31737	0.1159:0.0:0.8841:0.0	.	180	P50914	RL14_HUMAN	T	180	ENSP00000345156:A180T;ENSP00000379506:A180T	ENSP00000345156:A180T	A	+	1	0	RPL14	40478617	0.082000	0.21442	0.047000	0.18901	0.779000	0.44077	2.579000	0.46059	0.989000	0.38761	-0.154000	0.13518	GCC		TCGA-IB-A7M4-01A-11D-A36O-08	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	1	0	1	50	162	0	47	1	1	3186	3804	0	47	2		0	0	0	0	0	2	1	1.000000	49	160	0	47	2		0	0	0	0	47	2	-20.000000	1	1	0	0		1	2	2	4	2.113889	0	0.440000	1.980000	0.468085	0.990000	0.870000	1.000000	1.000000	0.989844	0.990000	1	0.990000	1.000000
PCDH10	57575	broad.mit.edu	37	4	134084224	134084224	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:134084224C>G	ENST00000264360.5	+	4	3716	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10			136					TTCTGATGGACGCCAGGCTGC	0.522000																								0							SO:0001583	missense			ENST00000264360.5	0	1	hg19	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749340	0.69533	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	5.24	5.24	0.73138	.	0.000000	0.40302	N	0.001138	T	0.54854	0.1884	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.61232	-0.7104	10	0.40728	T	0.16	.	18.6158	0.91302	0.0:1.0:0.0:0.0	.	964	Q9P2E7	PCD10_HUMAN	G	964	ENSP00000264360:R964G	ENSP00000264360:R964G	R	+	1	0	PCDH10	134303674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.717000	0.92951	0.650000	0.86243	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	0	0	0	10	392	0	125	0	0	0	1	0	125	2		0	0	0	0	0	2	1	0.996847	10	389	0	124	2		0	0	0	0	125	2	-9.434484	1	1	0	0		1	0	0	0	1.953199	0	0.440000	1.980000	0.422204	0.110000	0.050000	0.190000	0.110000	0.119541	0.110000	0	0.070000	0.150000
LRBA	987	broad.mit.edu	37	4	151199141	151199141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr4:151199141G>A	ENST00000357115.3	-	57	8608	c.8365C>T	c.(8365-8367)Cga>Tga	p.R2789*	LRBA_ENST00000510413.1_Nonsense_Mutation_p.R2777*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.R2778*|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing			91	all_hematologic(180;0.151)				TGCCCATCTCGGCTCAGCTGG	0.547000																								0							SO:0001587	stop_gained			ENST00000357115.3	0	1	hg19	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	51	18.130073	0.99899	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115	.	.	.	5.23	4.38	0.52667	.	0.062472	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4711	0.67517	0.0:0.0:0.7348:0.2652	.	.	.	.	X	2778;2777;2789	.	ENSP00000349629:R2789X	R	-	1	2	LRBA	151418591	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.422000	0.44696	1.176000	0.42840	0.655000	0.94253	CGA		TCGA-IB-A7M4-01A-11D-A36O-08	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1	1	0	0	15	276	0	77	0	7.974074e-01	1	56	0	77	2		0	0	0	0	0	2	1	0.999866	14	272	0	74	2		0	0	0	0	77	2	-2.848768	1	1	0	0		1	0	0	0	1.953199	0	0.440000	1.980000	0.422204	0.220000	0.130000	0.360000	0.230000	0.239443	0.220000	0	0.170000	0.300000
SEMA6A	57556	broad.mit.edu	37	5	115782948	115782948	+	Silent	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:115782948C>T	ENST00000343348.6	-	19	3241	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L245L|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.L295L|SEMA6A_ENST00000257414.8_Silent_p.L835L|SEMA6A_ENST00000510263.1_Silent_p.L818L|SEMA6A_ENST00000503865.1_Silent_p.L197L|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A			31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)			GCGTGATGGGCAGGACCACCA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000343348.6	1	1	hg19	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	C	2.211	-0.380738	0.05000	.	.	ENSG00000092421	ENST00000515129	.	.	.	5.11	2.34	0.29019	.	.	.	.	.	T	0.58438	0.2122	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49273	-0.8957	4	.	.	.	.	9.5769	0.39463	0.3536:0.5783:0.0:0.0681	.	.	.	.	Y	333	.	.	C	-	2	0	SEMA6A	115810847	0.999000	0.42202	0.997000	0.53966	0.854000	0.48673	0.742000	0.26216	-0.041000	0.13558	-2.997000	0.00077	TGC		TCGA-IB-A7M4-01A-11D-A36O-08	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	1	0	0	37	471	0	151	0	3.067231e-02	0	4	0	151	2		0	0	0	0	0	2	1	1.000000	37	467	0	150	2		0	0	0	0	151	2	-20.000000	1	1	0	0		1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.310000	0.220000	0.420000	0.320000	0.321383	0.310000	0	0.260000	0.370000
DMXL1	1657	broad.mit.edu	37	5	118506551	118506551	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:118506551A>C	ENST00000311085.8	+	24	6145	c.6065A>C	c.(6064-6066)gAt>gCt	p.D2022A	DMXL1_ENST00000539542.1_Missense_Mutation_p.D2022A	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1			86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)			CCATCAGAAGATATAATTGCA	0.313000																								0							SO:0001583	missense			ENST00000311085.8	1	1	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749710	0.69533	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.77750	-1.12;-1.12	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91353	0.5106	10	0.87932	D	0	-19.8717	15.606	0.76672	1.0:0.0:0.0:0.0	.	2022;2022	F5H269;Q9Y485	.;DMXL1_HUMAN	A	2022	ENSP00000309690:D2022A;ENSP00000439479:D2022A	ENSP00000309690:D2022A	D	+	2	0	DMXL1	118534450	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.083000	0.62718	0.455000	0.32223	GAT		TCGA-IB-A7M4-01A-11D-A36O-08	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	1	0	1	63	276	0	71	0	1.631252e-01	1	3	0	71	2		0	0	0	0	0	2	1	1.000000	63	273	0	71	2		0	0	0	0	71	2	-20.000000	1	1	0	0		1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.790000	0.630000	0.980000	0.800000	0.807570	0.790000	0	0.710000	0.900000
FTMT	94033	broad.mit.edu	37	5	121188177	121188177	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121188177G>A	ENST00000321339.1	+	1	528	c.519G>A	c.(517-519)tcG>tcA	p.S173S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial			33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		TGAACCAGTCGTTGCTGGAAT	0.517000																								0							SO:0001819	synonymous_variant			ENST00000321339.1	1	1	hg19	CCDS4128.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	0	32	514	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	1.000000	32	507	0	147	2		0	0	0	0	151	2	-6.820153	1	1	121412	2	38	1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.250000	0.170000	0.350000	0.250000	0.259793	0.250000	0	0.210000	0.300000
LOX	4015	broad.mit.edu	37	5	121409724	121409724	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:121409724C>T	ENST00000231004.4	-	4	1318	c.1019G>A	c.(1018-1020)tGt>tAt	p.C340Y	SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase			8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		GTGTGCAGTACATGCAAATCG	0.478000																								0							SO:0001583	missense			ENST00000231004.4	1	1	hg19	CCDS4129.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811350	0.90707	.	.	ENSG00000113083	ENST00000231004;ENST00000543620	T	0.45668	0.89	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.75803	0.3899	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81088	-0.1091	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	340	P28300	LYOX_HUMAN	Y	340;300	ENSP00000231004:C340Y	ENSP00000231004:C340Y	C	-	2	0	LOX	121437623	1.000000	0.71417	0.982000	0.44146	0.965000	0.64279	7.487000	0.81328	2.835000	0.97688	0.650000	0.86243	TGT		TCGA-IB-A7M4-01A-11D-A36O-08	LOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250887.2	0	0	0	58	889	0	255	0	5.422736e-01	1	28	0	255	2		0	0	0	0	0	2	1	1.000000	58	881	0	252	2		0	0	0	0	255	2	-9.466318	1	1	0	0		1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.260000	0.190000	0.330000	0.270000	0.268513	0.260000	0	0.220000	0.300000
PCDHGA2	56113	broad.mit.edu	37	5	140720214	140720214	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:140720214C>T	ENST00000394576.2	+	1	1676	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2			77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AACGACAACGCGCCCGAGATC	0.622000																								0							SO:0001583	missense			ENST00000394576.2	1	1	hg19	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	7.268	0.606631	0.14002	.	.	ENSG00000081853	ENST00000394576	T	0.03181	4.02	5.02	1.19	0.21007	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	1.143520	0.06915	U	0.808345	T	0.07007	0.0178	M	0.69185	2.1	0.09310	N	1	B;B	0.22541	0.005;0.071	B;B	0.24394	0.053;0.033	T	0.41016	-0.9532	10	0.44086	T	0.13	.	10.0865	0.42421	0.0:0.7185:0.0:0.2815	.	559;559	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	559	ENSP00000378077:A559V	ENSP00000378077:A559V	A	+	2	0	PCDHGA2	140700398	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	0.005000	0.14708	-0.225000	0.12378	GCG		TCGA-IB-A7M4-01A-11D-A36O-08	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	1	0	0	45	823	0	264	0	2.853108e-03	0	2	0	264	2		0	0	0	0	0	2	1	1.000000	45	810	0	262	2		0	0	0	0	264	2	-6.525954	1	0	121412	1	35	1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.220000	0.160000	0.290000	0.230000	0.228323	0.220000	0	0.180000	0.260000
RASGRF2	5924	broad.mit.edu	37	5	80376464	80376464	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80376464T>G	ENST00000265080.4	+	7	1084	c.1017T>G	c.(1015-1017)ttT>ttG	p.F339L	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2			75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)			ATCAAGAATTTGTGCGTAATC	0.403000																								0							SO:0001583	missense			ENST00000265080.4	1	1	hg19	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	T	31	5.090469	0.94149	.	.	ENSG00000113319	ENST00000265080	T	0.68181	-0.31	5.7	4.55	0.56014	Dbl homology (DH) domain (5);	0.095640	0.85682	D	0.000000	T	0.75072	0.3800	L	0.50333	1.59	0.58432	D	0.999995	D;D	0.76494	0.999;0.994	D;D	0.69307	0.963;0.933	T	0.76160	-0.3061	10	0.72032	D	0.01	.	11.4093	0.49917	0.0:0.0702:0.0:0.9298	.	339;339	D6RAS9;O14827	.;RGRF2_HUMAN	L	339	ENSP00000265080:F339L	ENSP00000265080:F339L	F	+	3	2	RASGRF2	80412220	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.483000	0.53194	1.006000	0.39211	0.459000	0.35465	TTT		TCGA-IB-A7M4-01A-11D-A36O-08	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	1	0	0	49	707	0	222	0	3.847422e-02	1	4	0	222	2		0	0	0	0	0	2	1	1.000000	49	702	0	222	2		0	0	0	0	222	2	-20.000000	1	0	0	0		1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.270000	0.200000	0.360000	0.280000	0.284783	0.270000	0	0.240000	0.320000
ACOT12	134526	broad.mit.edu	37	5	80640798	80640798	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr5:80640798C>T	ENST00000307624.3	-	8	864	c.836G>A	c.(835-837)cGt>cAt	p.R279H	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12			23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)			GTTGATGTGACGCCCTCGGCC	0.493000																								0							SO:0001583	missense			ENST00000307624.3	1	1	hg19	CCDS4055.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.7	4.451499	0.84209	.	.	ENSG00000172497	ENST00000307624	T	0.32753	1.44	5.53	4.64	0.57946	.	0.131978	0.52532	D	0.000073	T	0.57932	0.2087	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65067	-0.6258	10	0.87932	D	0	-19.3255	15.1428	0.72623	0.0:0.8576:0.1424:0.0	.	279	Q8WYK0	ACO12_HUMAN	H	279	ENSP00000303246:R279H	ENSP00000303246:R279H	R	-	2	0	ACOT12	80676554	1.000000	0.71417	0.454000	0.27019	0.882000	0.50991	6.380000	0.73158	1.301000	0.44836	0.561000	0.74099	CGT		TCGA-IB-A7M4-01A-11D-A36O-08	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	0	0	1	65	266	0	116		0	0	0	0	116	2		0	0	0	0	0	2	1	1.000000	64	265	0	116	2		0	0	0	0	116	2	-20.000000	1	1	121412	12	43	1	0	0	0	1.910850	0	0.440000	1.980000	0.411517	0.840000	0.670000	1.000000	1.000000	0.850711	0.840000	0	0.750000	0.940000
PHACTR1	221692	broad.mit.edu	37	6	13273094	13273094	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:13273094G>A	ENST00000379350.1	+	10	1523	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	PHACTR1_ENST00000379329.1_Missense_Mutation_p.R29Q|PHACTR1_ENST00000332995.7_Missense_Mutation_p.R465Q|RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000379335.3_Missense_Mutation_p.R29Q|PHACTR1_ENST00000457702.2_Missense_Mutation_p.R320Q|RP1-257A7.4_ENST00000606627.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1			26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		TTCCGTAGGCGGCTGAGCCAG	0.483000																								0							SO:0001583	missense			ENST00000379350.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.030241|6.030241	0.97216|0.97216	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000415087|ENST00000379350;ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329	.|T;T;T	.|0.56941	.|0.43;1.11;1.18	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72851|0.72851	0.3512|0.3512	M|M	0.84326|0.84326	2.69|2.69	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.997	.|D;D	.|0.91635	.|0.999;0.947	T|T	0.75536|0.75536	-0.3283|-0.3283	5|10	.|0.87932	.|D	.|0	-14.4638|-14.4638	19.29|19.29	0.94095|0.94095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|465;465	.|Q9C0D0;Q9C0D0-2	.|PHAR1_HUMAN;.	S|Q	300|465;465;320;29;29	.|ENSP00000368655:R465Q;ENSP00000329880:R465Q;ENSP00000397669:R320Q	.|ENSP00000329880:R465Q	G|R	+|+	1|2	0|0	PHACTR1|PHACTR1	13381073|13381073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	8.473000|8.473000	0.90410|0.90410	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GGC|CGG		TCGA-IB-A7M4-01A-11D-A36O-08	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	1	0	0	38	785	0	183	0	0	0	1	0	183	2		0	0	0	0	0	2	1	1.000000	37	776	0	182	2		0	0	0	0	183	2	-4.625984	1	1	120826	2	37	1	1	2	3	2.032223	0	0.440000	1.980000	0.442453	0.200000	0.140000	0.300000	0.210000	0.223178	0.200000	0	0.170000	0.250000
CPNE5	57699	broad.mit.edu	37	6	36710085	36710085	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:36710085G>A	ENST00000244751.2	-	21	2366	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.A289V	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V			25					GGGCGTGCGGGCTGGGGACTG	0.682000																								0							SO:0001583	missense			ENST00000244751.2	1	1	hg19	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444369	0.43429	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12039	3.51;2.72	4.6	2.8	0.32819	.	0.243896	0.41823	D	0.000812	T	0.02970	0.0088	L	0.36672	1.1	0.27941	N	0.937519	B	0.06786	0.001	B	0.04013	0.001	T	0.42481	-0.9449	10	0.29301	T	0.29	.	6.038	0.19718	0.1033:0.1925:0.7042:0.0	.	581	Q9HCH3	CPNE5_HUMAN	V	581;289	ENSP00000244751:A581V;ENSP00000376885:A289V	ENSP00000244751:A581V	A	-	2	0	CPNE5	36818063	0.057000	0.20700	0.864000	0.33941	0.739000	0.42172	0.598000	0.24074	0.551000	0.29008	0.561000	0.74099	GCC		TCGA-IB-A7M4-01A-11D-A36O-08	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	1	0	1	46	283	0	73	0	2.058567e-01	0	6	0	73	2		0	0	0	0	0	2	1	1.000000	46	279	0	72	2		0	0	0	0	73	2	-19.957780	1	1	0	0		1	1	2	3	2.033469	0	0.440000	1.980000	0.442453	0.630000	0.470000	0.850000	0.630000	0.649257	0.630000	0	0.550000	0.740000
KLHDC3	116138	broad.mit.edu	37	6	42985680	42985680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:42985680T>C	ENST00000326974.4	+	4	616	c.421T>C	c.(421-423)Tac>Cac	p.Y141H	KLHDC3_ENST00000332245.8_Missense_Mutation_p.Y82H|KLHDC3_ENST00000244670.8_Intron	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3			9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		CAAGATCATGTACATTTTTGG	0.512000																								0							SO:0001583	missense			ENST00000326974.4	0	1	hg19	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033569	0.75504	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000426116;ENST00000332245	T;T	0.24350	1.86;1.86	5.15	5.15	0.70609	Kelch-type beta propeller (1);	0.065520	0.64402	D	0.000006	T	0.61590	0.2359	H	0.98276	4.19	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.73708	0.981;0.981;0.981	T	0.78833	-0.2048	10	0.87932	D	0	.	14.9695	0.71223	0.0:0.0:0.0:1.0	.	141;82;141	E7ENU0;E7ERR0;Q9BQ90	.;.;KLDC3_HUMAN	H	141;141;141;114;82	ENSP00000313995:Y141H;ENSP00000331562:Y82H	ENSP00000313995:Y141H	Y	+	1	0	KLHDC3	43093658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	1.950000	0.56595	0.459000	0.35465	TAC		TCGA-IB-A7M4-01A-11D-A36O-08	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	0	0	0	8	562	0	118	1	7.288690e-01	6	172	0	118	2		0	0	0	0	0	2	1	0.988742	8	553	0	117	2		0	0	0	0	118	2	-6.596216	1	1	0	0		1	1	2	3	2.033469	0	0.440000	1.980000	0.442453	0.060000	0.020000	0.130000	0.060000	0.080781	0.060000	0	0.040000	0.100000
DST	667	broad.mit.edu	37	6	56325048	56325048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:56325048G>A	ENST00000361203.3	-	97	22011	c.22004C>T	c.(22003-22005)aCg>aTg	p.T7335M	DST_ENST00000370788.2_Missense_Mutation_p.T5249M|DST_ENST00000421834.2_Missense_Mutation_p.T5331M|DST_ENST00000370754.5_Missense_Mutation_p.T7624M|DST_ENST00000446842.2_Missense_Mutation_p.T7120M|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.T5045M|DST_ENST00000370769.4_Missense_Mutation_p.T7446M			Q03001	DYST_HUMAN	dystonin			105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		TTGTATTGGCGTTCCCTGTAT	0.443000																								0							SO:0001583	missense			ENST00000361203.3	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352831|4.352831	0.82132|0.82132	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.65732	.|0.71;-0.16;-0.17;-0.07;0.78;-0.04;-0.11	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.73590|0.73590	0.3606|0.3606	L|L	0.55481|0.55481	1.735|1.735	.|.	.|.	.|.	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.972;0.999;0.999;0.993	.|D;D;D;D;P;P;P;P	.|0.87578	.|0.998;0.996;0.994;0.998;0.503;0.802;0.891;0.73	T|T	0.70085|0.70085	-0.4969|-0.4969	4|9	.|0.49607	.|T	.|0.09	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5331;7446;7624;7444;5045;132;132;5249	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	C|M	133|5045;7624;7446;5331;7120;5249;7335	.|ENSP00000244364:T5045M;ENSP00000359790:T7624M;ENSP00000359805:T7446M;ENSP00000400883:T5331M;ENSP00000393645:T7120M;ENSP00000359824:T5249M;ENSP00000354508:T7335M	.|ENSP00000244364:T5045M	R|T	-|-	1|2	0|0	DST|DST	56433007|56433007	1.000000|1.000000	0.71417|0.71417	0.899000|0.899000	0.35326|0.35326	0.996000|0.996000	0.88848|0.88848	7.542000|7.542000	0.82095|0.82095	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGC|ACG		TCGA-IB-A7M4-01A-11D-A36O-08	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	1	0	1	83	245	0	63	1	1	26	65	0	63	2		0	0	0	0	0	2	1	1.000000	82	245	0	63	2		0	0	0	0	63	2	-20.000000	1	1	120852	11	41	1	1	2	3	2.033469	0	0.440000	1.980000	0.442453	0.990000	0.940000	1.000000	1.000000	0.996880	0.990000	1	0.990000	1.000000
KCNQ5	56479	broad.mit.edu	37	6	73904417	73904417	+	Silent	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr6:73904417G>A	ENST00000370398.1	+	14	2188	c.2079G>A	c.(2077-2079)acG>acA	p.T693T	KCNQ5_ENST00000355635.3_Silent_p.T694T|KCNQ5_ENST00000355194.4_Silent_p.T693T|KCNQ5_ENST00000414165.2_Silent_p.T583T|KCNQ5_ENST00000342056.2_Silent_p.T712T|KCNQ5_ENST00000403813.2_Silent_p.T684T|KCNQ5_ENST00000402622.2_Silent_p.T703T	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5			57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		Ezogabine(DB04953)	TCATTCTGACGCCAAATGAGT	0.502000													GBM(142;1375 1859 14391 23261 44706)											0							SO:0001819	synonymous_variant			ENST00000370398.1	1	1	hg19	CCDS4976.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1	117	422	0	160	0	0	0	1	0	160	2		0	0	0	0	0	2	1	1.000000	113	416	0	160	2		0	0	0	0	160	2	-4.035921	1	1	121412	9	44	1	1	2	3	2.033469	0	0.440000	1.980000	0.442453	0.980000	0.830000	1.000000	1.000000	0.964557	0.980000	1	0.900000	1.000000
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	p.E485K(4)		40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)		TGACGATGCCGAAGCCAGCAT	0.458000																								4	Substitution - Missense(4)						SO:0001583	missense			ENST00000325222.4	1	1	hg19	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	33	5.288263	0.95517	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	D;D	0.86865	-2.18;-2.18	5.5	5.5	0.81552	Cullin, N-terminal (1);Cullin homology (3);	0.047140	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.96814	0.9599	10	0.87932	D	0	-0.8542	19.4118	0.94677	0.0:0.0:1.0:0.0	.	412;485	E7EWR0;Q13616	.;CUL1_HUMAN	K	485;485;443;412	ENSP00000387160:E485K;ENSP00000326804:E485K	ENSP00000326804:E485K	E	+	1	0	CUL1	148115119	1.000000	0.71417	0.913000	0.36048	0.576000	0.36127	9.497000	0.97970	2.595000	0.87683	0.655000	0.94253	GAA		TCGA-IB-A7M4-01A-11D-A36O-08	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	1	0	0	19	309	1	82	1	5.099373e-01	7	89	1	82	6		0	0	0	0	0	2	1	0.841242	18	303	1	82	14		0	0	0	1	82	2	-2.842321	1	1	0	0		1	1	2	3	2.014673	0	0.440000	1.980000	0.446093	0.270000	0.160000	1.000000	0.270000	0.304901	0.270000	0	0.210000	0.350000
CSMD3	114788	broad.mit.edu	37	8	113349048	113349048	+	Silent	SNP	A	A	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:113349048A>T	ENST00000297405.5	-	44	7096	c.6852T>A	c.(6850-6852)ggT>ggA	p.G2284G	CSMD3_ENST00000352409.3_Silent_p.G2214G|CSMD3_ENST00000455883.2_Silent_p.G2180G|CSMD3_ENST00000343508.3_Silent_p.G2244G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3			646					TTATATTCCCACCACAAAGAG	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)														0							SO:0001819	synonymous_variant			ENST00000297405.5	1	1	hg19	CCDS6315.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1	164	314	0	114		0	0	0	0	114	2		0	0	0	0	0	2	1	1.000000	162	310	0	114	2		0	0	0	0	114	2	-20.000000	1	1	0	0		1	1	3	4	2.513552	1	0.440000	1.980000	0.553856	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
SCRIB	23513	broad.mit.edu	37	8	144891159	144891159	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144891159C>T	ENST00000320476.3	-	15	1741	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	SCRIB_ENST00000356994.2_Missense_Mutation_p.G579R|SCRIB_ENST00000377533.3_Missense_Mutation_p.G498R	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein			42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		CTGTCATCCCCGGGCAGCAGT	0.642000													Pancreas(51;966 1133 10533 14576 29674)											0							SO:0001583	missense			ENST00000320476.3	1	1	hg19	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	7.938	0.742196	0.15642	0.0	1.16E-4	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.36340	1.49;1.45;1.26	4.79	-7.88	0.01178	.	.	.	.	.	T	0.13543	0.0328	N	0.11756	0.17	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.001;0.004	T	0.25502	-1.0130	9	0.13853	T	0.58	.	5.0756	0.14630	0.0935:0.0875:0.2007:0.6183	.	579;579	Q14160;Q14160-3	SCRIB_HUMAN;.	R	579;579;498	ENSP00000349486:G579R;ENSP00000322938:G579R;ENSP00000366756:G498R	ENSP00000322938:G579R	G	-	1	0	SCRIB	144963147	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.067000	0.14510	-1.579000	0.01646	0.401000	0.26515	GGG		TCGA-IB-A7M4-01A-11D-A36O-08	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	1	0	0	26	446	0	58	1	9.955213e-01	9	136	0	58	2		0	0	0	0	0	2	1	1.000000	26	441	0	55	2		0	0	0	0	58	2	-2.690843	1	1	121410	2	34	1	1	4	5	3.074370	1	0.440000	1.980000	0.633508	0.400000	0.250000	1.000000	0.390000	0.486838	0.400000	0	0.320000	0.590000
PLEC	5339	broad.mit.edu	37	8	144991972	144991972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:144991972G>A	ENST00000322810.4	-	32	12597	c.12428C>T	c.(12427-12429)tCg>tTg	p.S4143L	PLEC_ENST00000436759.2_Missense_Mutation_p.S4033L|PLEC_ENST00000354589.3_Missense_Mutation_p.S4006L|PLEC_ENST00000527096.1_Missense_Mutation_p.S4029L|PLEC_ENST00000357649.2_Missense_Mutation_p.S4010L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3984L|PLEC_ENST00000345136.3_Missense_Mutation_p.S4006L|PLEC_ENST00000356346.3_Missense_Mutation_p.S3992L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3974L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin			137					GCGCTCGGCCGACAGCAGCTT	0.607000																								0							SO:0001583	missense			ENST00000322810.4	0	1	hg19	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279669	0.23307	4.61E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000014	D	0.84511	0.5488	L	0.58302	1.8	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998;0.998;0.998;0.998	D	0.85805	0.1376	10	0.87932	D	0	.	18.2755	0.90081	0.0:0.0:1.0:0.0	.	4033;3992;3984;4143;3974;4006;4010;4006	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	4006;4010;4006;3974;4143;3984;3992;4033;4029	ENSP00000344848:S4006L;ENSP00000350277:S4010L;ENSP00000346602:S4006L;ENSP00000381756:S3974L;ENSP00000323856:S4143L;ENSP00000347044:S3984L;ENSP00000348702:S3992L;ENSP00000388180:S4033L;ENSP00000434583:S4029L	ENSP00000323856:S4143L	S	-	2	0	PLEC	145063960	1.000000	0.71417	0.996000	0.52242	0.232000	0.25224	9.595000	0.98260	2.654000	0.90174	0.549000	0.68633	TCG		TCGA-IB-A7M4-01A-11D-A36O-08	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	0	0	0	12	345	0	60	1	1	45	1189	0	60	2		0	0	0	0	0	2	1	0.999077	12	341	0	58	2		0	0	0	0	60	2	-3.462155	1	0	121208	3	36	1	1	4	5	3.074370	1	0.440000	1.980000	0.633508	0.250000	0.120000	1.000000	0.230000	0.364634	0.250000	0	0.180000	0.440000
BMP1	649	broad.mit.edu	37	8	22037971	22037971	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:22037971G>A	ENST00000306385.5	+	8	1722	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	BMP1_ENST00000397816.3_Missense_Mutation_p.R351H|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R351H|BMP1_ENST00000397814.3_Missense_Mutation_p.R351H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1			30					TGCGTGTGGCGCATCTCTGTC	0.612000																								0							SO:0001583	missense			ENST00000306385.5	0	1	hg19	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795501	0.90453	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.66	5.66	0.87406	CUB (5);	0.000000	0.39274	U	0.001412	T	0.53722	0.1814	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;0.998;0.994	P;D;P;P	0.91635	0.818;0.999;0.886;0.629	T	0.42241	-0.9463	10	0.35671	T	0.21	.	18.5112	0.90917	0.0:0.0:1.0:0.0	.	351;424;351;351	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	H	351	ENSP00000305714:R351H;ENSP00000380917:R351H;ENSP00000306121:R351H;ENSP00000380915:R351H	ENSP00000306121:R351H	R	+	2	0	BMP1	22093916	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.755000	0.74914	2.665000	0.90641	0.561000	0.74099	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	0	0	0	5	406	0	152	0	1.254665e-01	0	41	0	152	2		0	0	0	0	0	2	1	0.935044	5	399	0	149	2		0	0	0	0	152	2	-2.051240	0	1	121412	2	41	1	0	1	1	1.634903	1	0.440000	1.980000	0.284071	0.040000	0.010000	0.100000	0.040000	0.051342	0.040000	0	0.020000	0.070000
SLCO5A1	81796	broad.mit.edu	37	8	70591817	70591817	+	Missense_Mutation	SNP	C	C	T	rs151145765	byFrequency	TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:70591817C>T	ENST00000260126.4	-	8	2526	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R607H|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R552H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1			53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		GATCACTTGGCGACTTTGGAC	0.453000																								0							SO:0001583	missense			ENST00000260126.4	0	1	hg19	CCDS6205.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	22.7	4.328881	0.81690	0.002724	0.0	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.41758	1.1;1.47;0.99	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000005	T	0.53222	0.1783	N	0.25890	0.77	0.49798	D	0.99982	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.987;0.986	T	0.46331	-0.9199	10	0.30854	T	0.27	.	19.6614	0.95875	0.0:1.0:0.0:0.0	.	552;607;607	E9PKK5;Q9H2Y9;G3V1C0	.;SO5A1_HUMAN;.	H	607;607;552	ENSP00000260126:R607H;ENSP00000434422:R607H;ENSP00000431611:R552H	ENSP00000260126:R607H	R	-	2	0	SLCO5A1	70754371	1.000000	0.71417	0.989000	0.46669	0.645000	0.38454	6.038000	0.70964	2.633000	0.89246	0.655000	0.94253	CGC		TCGA-IB-A7M4-01A-11D-A36O-08	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	0	0	0	15	561	0	148		0	0	0	0	148	2		0	0	0	0	0	2	1	0.999855	15	552	0	148	2		0	0	0	0	148	2	-2.670482	1	1	121412	39	50	1	1	2	3	2.053415	0	0.440000	1.980000	0.447296	0.120000	0.060000	1.000000	0.120000	0.168200	0.120000	0	0.090000	0.170000
STK3	6788	broad.mit.edu	37	8	99468195	99468195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr8:99468195G>A	ENST00000419617.2	-	11	1491	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	STK3_ENST00000523601.1_Missense_Mutation_p.R479W	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3			17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)		GCTTTTAACCGCATCTGTAGT	0.383000																								0							SO:0001583	missense			ENST00000419617.2	0	1	hg19	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912410	0.72983	.	.	ENSG00000104375	ENST00000419617;ENST00000523601	T;T	0.75260	-0.91;-0.92	5.51	4.58	0.56647	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.977;0.982	D	0.84708	0.0732	10	0.87932	D	0	.	12.0474	0.53487	0.0:0.0:0.6717:0.3283	.	451;479	Q13188;B3KYA7	STK3_HUMAN;.	W	451;479	ENSP00000390500:R451W;ENSP00000429744:R479W	ENSP00000390500:R451W	R	-	1	2	STK3	99537371	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.638000	0.37165	2.746000	0.94184	0.591000	0.81541	CGG		TCGA-IB-A7M4-01A-11D-A36O-08	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	0	0	0	6	173	0	37	1	6.368836e-01	4	56	0	37	2		0	0	0	0	0	2	1	0.963270	6	169	0	37	2		0	0	0	0	37	2	-3.846188	1	1	120776	1	24	1	1	3	4	2.513552	1	0.440000	1.980000	0.553856	0.230000	0.080000	1.000000	0.190000	0.403854	0.230000	0	0.140000	1.000000
DBH	1621	broad.mit.edu	37	9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	p.V276I(1)		36				Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000393056.2	0	1	hg19	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.699360	0.00725	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.29917	1.55;1.55	4.9	-8.25	0.01025	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.610624	0.17687	N	0.165404	T	0.07954	0.0199	N	0.04373	-0.215	0.19775	N	0.99995	B	0.06786	0.001	B	0.11329	0.006	T	0.25502	-1.0130	10	0.02654	T	1	-15.1191	7.9737	0.30143	0.4294:0.0:0.3685:0.2021	.	276	P09172	DOPO_HUMAN	I	276;213;213	ENSP00000376776:V276I;ENSP00000263611:V213I	ENSP00000263611:V213I	V	+	1	0	DBH	135498437	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.053000	0.03500	-1.933000	0.01052	-0.410000	0.06199	GTC		TCGA-IB-A7M4-01A-11D-A36O-08	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	0	0	0	10	348	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.996850	9	346	0	87	2		0	0	0	0	87	2	-3.607988	1	1	121410	1	36	1	1	2	3	2.023196	0	0.440000	1.980000	0.442453	0.130000	0.060000	0.240000	0.120000	0.147442	0.130000	0	0.090000	0.180000
PRUNE2	158471	broad.mit.edu	37	9	79323756	79323756	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:79323756G>A	ENST00000376718.3	-	8	3557	c.3434C>T	c.(3433-3435)gCg>gTg	p.A1145V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A786V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)			16					GGGGATTGCCGCACCCCCACT	0.522000																								0							SO:0001583	missense			ENST00000376718.3	0	1	hg19	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	2.851	-0.238399	0.05944	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.38401	1.15;1.14	6.08	6.08	0.98989	.	0.121361	0.37577	N	0.002034	T	0.12603	0.0306	N	0.01576	-0.805	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.02654	T	1	-10.7943	11.0795	0.48051	0.9304:0.0:0.0696:0.0	.	1145	Q8WUY3	PRUN2_HUMAN	V	1145;786;1144	ENSP00000365908:A1145V;ENSP00000397425:A786V	ENSP00000365908:A1145V	A	-	2	0	PRUNE2	78513576	0.218000	0.23608	0.794000	0.32065	0.308000	0.27856	0.910000	0.28571	1.126000	0.42016	-0.254000	0.11334	GCG		TCGA-IB-A7M4-01A-11D-A36O-08	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	0	0	7	589	0	164		0	0	0	0	164	2		0	0	0	0	0	2	1	0.979119	7	576	0	164	2		0	0	0	0	164	2	-1.925693	0	1	120486	4	37	1	1	2	3	2.026129	0	0.440000	1.980000	0.442453	0.050000	0.010000	0.120000	0.060000	0.070200	0.050000	0	0.030000	0.080000
PTPDC1	138639	broad.mit.edu	37	9	96847575	96847575	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chr9:96847575A>G	ENST00000375360.3	+	3	465	c.125A>G	c.(124-126)gAg>gGg	p.E42G	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E94G	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1			32					AAAGTAGGGGAGCGTTTACGG	0.453000																								0							SO:0001583	missense			ENST00000375360.3	1	1	hg19	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	24.7	4.564213	0.86335	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.75589	-0.95;-0.95	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	M	0.83953	2.67	0.54753	D	0.999987	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.81914	0.981;0.992;0.971;0.995	D	0.88807	0.3289	10	0.87932	D	0	-27.4699	15.0953	0.72229	1.0:0.0:0.0:0.0	.	96;94;96;42	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	G	42;94	ENSP00000364509:E42G;ENSP00000288976:E94G	ENSP00000288976:E94G	E	+	2	0	PTPDC1	95887396	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.771000	0.91751	2.226000	0.72624	0.482000	0.46254	GAG		TCGA-IB-A7M4-01A-11D-A36O-08	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	0	0	1	149	521	0	158	1	5.008225e-02	2	0	0	158	2		0	0	0	0	0	2	1	1.000000	146	515	0	156	2		0	0	0	0	158	2	-20.000000	1	1	0	0		1	1	2	3	2.026129	0	0.440000	1.980000	0.442453	0.990000	0.870000	1.000000	1.000000	0.978770	0.990000	1	0.930000	1.000000
USP26	83844	broad.mit.edu	37	X	132160691	132160691	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:132160691G>T	ENST00000511190.1	-	6	2027	c.1558C>A	c.(1558-1560)Cac>Aac	p.H520N	USP26_ENST00000406273.1_Missense_Mutation_p.H520N|USP26_ENST00000370832.1_Missense_Mutation_p.H520N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26			60	Acute lymphoblastic leukemia(192;0.000127)				CGTTTGAGGTGAACAATAAGG	0.383000													NSCLC(104;342 1621 36940 47097 52632)											0							SO:0001583	missense			ENST00000511190.1	1	0	hg19	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047339	0.36085	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.77877	-1.13;-1.13;-1.13	3.8	3.8	0.43715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.115910	0.35378	N	0.003241	D	0.85687	0.5754	M	0.76574	2.34	0.32585	N	0.527976	D	0.89917	1.0	D	0.97110	1.0	D	0.87940	0.2716	10	0.87932	D	0	-18.1599	10.167	0.42886	0.0:0.0:1.0:0.0	.	520	Q9BXU7	UBP26_HUMAN	N	520	ENSP00000359869:H520N;ENSP00000423390:H520N;ENSP00000384360:H520N	ENSP00000359869:H520N	H	-	1	0	USP26	131988357	1.000000	0.71417	0.751000	0.31187	0.034000	0.12701	6.092000	0.71414	2.153000	0.67306	0.529000	0.55759	CAC		TCGA-IB-A7M4-01A-11D-A36O-08	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	1	0	0	21	524	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	0.999997	20	518	0	166	2		0	0	0	0	167	2	-3.416538	1	1	0	0		1	0	1	1			0.440000	1.980000	0.440000	0.080000	0.050000	0.130000	0.090000	0.091186	0.080000	0	0.060000	0.110000
NHS	4810	broad.mit.edu	37	X	17745920	17745920	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:17745920G>C	ENST00000380060.3	+	6	3969	c.3631G>C	c.(3631-3633)Gaa>Caa	p.E1211Q	NHS_ENST00000398097.3_Missense_Mutation_p.E1055Q	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)			71	Hepatocellular(33;0.183)				CTGCGATCCAGAAACCATAAC	0.408000																								0							SO:0001583	missense			ENST00000380060.3	1	1	hg19	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714361	0.30413	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.50277	0.8;0.75	5.79	5.79	0.91817	.	0.270289	0.35970	N	0.002870	T	0.47544	0.1451	L	0.54323	1.7	0.24754	N	0.992961	P;P;P;P	0.51933	0.919;0.919;0.919;0.949	P;P;P;P	0.47346	0.51;0.51;0.51;0.544	T	0.45381	-0.9265	10	0.17832	T	0.49	-17.3353	13.2279	0.59924	0.0773:0.0:0.9227:0.0	.	1232;1053;1055;1211	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Q	1211;1055;1053	ENSP00000369400:E1211Q;ENSP00000381170:E1055Q	ENSP00000369397:E1053Q	E	+	1	0	NHS	17655841	1.000000	0.71417	0.952000	0.39060	0.101000	0.19017	4.755000	0.62198	2.444000	0.82710	0.544000	0.68410	GAA		TCGA-IB-A7M4-01A-11D-A36O-08	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	0	0	0	13	357	0	107	0	2.013857e-02	0	6	0	107	2		0	0	0	0	0	2	1	0.999503	13	351	0	107	2		0	0	0	0	107	2	-3.717508	1	1	0	0		1	0	1	1			0.440000	1.980000	0.440000	0.070000	0.040000	0.130000	0.080000	0.085231	0.070000	0	0.050000	0.110000
FAM133A	286499	broad.mit.edu	37	X	92964973	92964973	+	Silent	SNP	T	T	C			TCGA-IB-A7M4-01A-11D-A36O-08	TCGA-IB-A7M4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69885b57-a521-4397-a1cc-a2580e98fda1	18d4d3f9-58cf-49c3-baa2-b4151bd1fa5a	g.chrX:92964973T>C	ENST00000355813.5	+	4	1081	c.555T>C	c.(553-555)ccT>ccC	p.P185P	FAM133A_ENST00000538690.1_Silent_p.P185P|FAM133A_ENST00000322139.4_Silent_p.P185P|FAM133A_ENST00000332647.4_Silent_p.P185P	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A			20					AAAGTTACCCTGATGATAAAC	0.368000																								0							SO:0001819	synonymous_variant			ENST00000355813.5	0	1	hg19	CCDS14466.1																																																																																				TCGA-IB-A7M4-01A-11D-A36O-08	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	1	0	1	7	60	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.982577	7	60	0	16	2		0	0	0	0	16	2	-13.224930	1	1	0	0		1	0	1	1			0.440000	1.980000	0.440000	0.240000	0.110000	0.430000	0.230000	0.258568	0.240000	0	0.160000	0.340000
