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
GRHL2	79977	broad.mit.edu	37	8	102649148	102649149	+	Frame_Shift_Ins	INS	-	-	CTCT			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:102649148_102649149insCTCT	ENST00000251808.3	+	12	1847_1848	c.1509_1510insCTCT	c.(1510-1512)cgafs	p.R504fs	GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.R488fs|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)			28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		CGGATGATGAACGAGAAGGGTA	0.421000																								0							SO:0001589	frameshift_variant			ENST00000251808.3	0	1	hg19	CCDS34931.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	1	0	0	29	456	0	120	0	6.769015e-01	0	38	0	120	2	0	0	0	0	0	0		1	1.000000	40	452	0	116	2								-6.350689	1	1	0	0		1	1	2	3	2.071426	0	0.310000	1.840000	0.314252	0.390000	0.260000	1.000000	0.390000	0.415425	0.390000	0	3.200000e-01	4.800000e-01
CASP5	838	broad.mit.edu	37	11	104871109	104871109	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:104871109C>T	ENST00000260315.3	-	6	830	c.831G>A	c.(829-831)gcG>gcA	p.A277A	CASP5_ENST00000444749.2_Silent_p.A219A|CASP5_ENST00000393141.2_Silent_p.A290A|CASP5_ENST00000418434.1_Silent_p.A135A|CASP5_ENST00000531367.1_Silent_p.A135A|CASP5_ENST00000526056.1_Silent_p.A290A|CASP5_ENST00000393139.2_3'UTR			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase			35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)			TCTTTTTATGCGCAGTTCCGC	0.483000																								0							SO:0001819	synonymous_variant			ENST00000260315.3	0	1	hg19	CCDS8328.2																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	0	0	0	5	389	0	128	0	7.907256e-04	0	3	0	128	2		0	0	0	0	0	2	1	0.936234	5	385	0	126	2								-2.172465	0	1	121412	1	40	1	0	1	1	1.955032	0	0.310000	1.840000	0.277525	0.080000	0.020000	0.170000	0.080000	0.092742	0.080000	0	5.000000e-02	1.300000e-01
E2F8	79733	broad.mit.edu	37	11	19256510	19256510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:19256510G>A	ENST00000527884.1	-	5	779	c.547C>T	c.(547-549)Cga>Tga	p.R183*	E2F8_ENST00000250024.4_Nonsense_Mutation_p.R183*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	p.R183*(1)		42					AGATTGTGTCGCCCGTGCCAA	0.463000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000527884.1	0	1	hg19	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	41	8.598033	0.98879	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	.	.	.	5.48	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.748	9.211	0.37318	0.0759:0.0:0.7658:0.1583	.	.	.	.	X	183	.	ENSP00000250024:R183X	R	-	1	2	E2F8	19213086	1.000000	0.71417	0.990000	0.47175	0.703000	0.40648	2.374000	0.44274	1.245000	0.43885	0.655000	0.94253	CGA		TCGA-2J-AABF-01A-31D-A40W-08	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	1	0	1	59	287	0	129	0	5.309898e-01	1	9	0	129	2		0	0	0	0	0	2	1	1.000000	60	283	0	127	2								-3.116769	1	1	0	0		1	0	1	1	1.934780	0	0.310000	1.840000	0.255784	0.990000	0.790000	1.000000	1.000000	0.962976	0.990000	1	8.900000e-01	1
ABTB2	25841	broad.mit.edu	37	11	34184254	34184254	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:34184254G>A	ENST00000435224.2	-	10	2511	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	ABTB2_ENST00000298992.2_Missense_Mutation_p.A510V	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2			25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)			CTGGCTCGACGCATCACTTTC	0.657000																								0							SO:0001583	missense			ENST00000435224.2	1	1	hg19	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	G	7.719	0.696873	0.15106	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60171	0.21;0.21	5.11	4.18	0.49190	.	0.887861	0.09993	N	0.729498	T	0.46658	0.1404	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.13407	0.009	T	0.31779	-0.9931	10	0.30078	T	0.28	-19.4398	15.1479	0.72674	0.0:0.1422:0.8578:0.0	.	510	Q8N961	ABTB2_HUMAN	V	696;510	ENSP00000410157:A696V;ENSP00000298992:A510V	ENSP00000298992:A510V	A	-	2	0	ABTB2	34140830	0.467000	0.25831	0.001000	0.08648	0.013000	0.08279	3.582000	0.53921	1.128000	0.42052	0.655000	0.94253	GCG		TCGA-2J-AABF-01A-31D-A40W-08	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	1	0	0	16	170	0	48	1	1.949100e-01	2	7	0	48	2		0	0	0	0	0	2	1	0.999935	16	166	0	45	2								-19.987490	1	1	121410	2	31	1	0	1	1	1.934780	0	0.310000	1.840000	0.255784	0.510000	0.310000	0.770000	0.510000	0.532443	0.510000	0	4.000000e-01	6.500000e-01
MAP6	4135	broad.mit.edu	37	11	75298708	75298708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr11:75298708G>A	ENST00000304771.3	-	4	2588	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526689.1_5'Flank|MAP6_ENST00000526740.1_Missense_Mutation_p.P284L	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6			19	Ovarian(111;0.11)				ACCCTTGACAGGTGCTGGGAC	0.537000													Esophageal Squamous(181;1115 2007 8647 17065 22697)											0							SO:0001583	missense			ENST00000304771.3	1	1	hg19	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.505538	0.26949	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	T	0.48836	0.8	4.42	1.37	0.22104	.	.	.	.	.	T	0.40473	0.1118	L	0.58810	1.83	0.18873	N	0.999982	B	0.12013	0.005	B	0.12156	0.007	T	0.31308	-0.9948	9	0.35671	T	0.21	0.8809	6.9282	0.24426	0.0869:0.0:0.6059:0.3071	.	613	Q96JE9	MAP6_HUMAN	L	613;284;284	ENSP00000307093:P613L	ENSP00000307093:P613L	P	-	2	0	MAP6	74976356	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	0.147000	0.16202	0.195000	0.20347	0.435000	0.28638	CCT		TCGA-2J-AABF-01A-31D-A40W-08	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	1	0	0	44	458	0	154	0	8.225562e-01	0	35	0	154	2		0	0	0	0	0	2	1	1.000000	44	455	0	153	2								-3.142702	1	1	0	0		1	0	1	1	1.955032	0	0.310000	1.840000	0.277525	0.530000	0.390000	0.700000	0.540000	0.547297	0.530000	0	4.600000e-01	6.200000e-01
TCP11L2	255394	broad.mit.edu	37	12	106705000	106705000	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:106705000C>A	ENST00000299045.3	+	2	321	c.147C>A	c.(145-147)agC>agA	p.S49R	TCP11L2_ENST00000546625.1_Missense_Mutation_p.S49R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.S49R	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2			15					GCAAATCCAGCTCTCCTGCTT	0.522000																								0							SO:0001583	missense			ENST00000299045.3	0	1	hg19	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401042	0.25291	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	T;T;T;T;T;T	0.30714	2.19;2.85;2.19;2.19;1.93;1.52	5.91	5.01	0.66863	.	0.357482	0.37178	N	0.002213	T	0.25494	0.0620	L	0.51422	1.61	0.45594	D	0.998536	B;P;P	0.36909	0.437;0.573;0.573	B;B;B	0.33521	0.117;0.165;0.165	T	0.02075	-1.1218	9	.	.	.	-1.542	10.1181	0.42603	0.0:0.8032:0.0:0.1968	.	49;49;49	Q8N4U5;G3V1Y9;G3V1Z2	T11L2_HUMAN;.;.	R	49	ENSP00000448952:S49R;ENSP00000299045:S49R;ENSP00000449123:S49R;ENSP00000448629:S49R;ENSP00000447174:S49R;ENSP00000447457:S49R	.	S	+	3	2	TCP11L2	105229130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.943000	0.29030	2.793000	0.96121	0.655000	0.94253	AGC		TCGA-2J-AABF-01A-31D-A40W-08	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	0	0	0	4	154	0	56	0	1.046775e-01	0	17	0	56	2		0	0	0	0	0	2	1	0.886830	2	153	0	52	2								-6.149728	1	0	0	0		1	0	0	0	1.940925	0	0.310000	1.840000	0.269223	0.160000	0.050000	0.360000	0.150000	0.187112	0.160000	0	1.000000e-01	2.600000e-01
PLEKHA5	54477	broad.mit.edu	37	12	19436284	19436284	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:19436284G>A	ENST00000299275.6	+	11	1372	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E462K|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E456K|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E348K|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E456K|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E214K|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.E456K|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E456K	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5			35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)				CCGCTACCCTGAAGGTTATAG	0.408000													Pancreas(196;329 2193 11246 14234 19524)											0							SO:0001583	missense			ENST00000299275.6	1	1	hg19	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259184	0.80246	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	4.16	3.25	0.37280	.	0.050946	0.85682	D	0.000000	T	0.37019	0.0988	M	0.78801	2.425	0.46874	D	0.999231	D;D;D;D;D;D;D	0.76494	0.995;0.996;0.997;0.992;0.999;0.985;0.991	D;D;D;P;D;P;D	0.78314	0.92;0.94;0.939;0.872;0.991;0.831;0.919	T	0.33624	-0.9861	10	0.72032	D	0.01	-3.3078	13.6615	0.62370	0.0:0.0:0.8444:0.1556	.	456;348;348;462;462;456;456	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	K	456;456;456;463;456;462;456;214;456;348;348;348	ENSP00000325155:E456K;ENSP00000347560:E456K;ENSP00000352104:E456K;ENSP00000311239:E456K;ENSP00000404296:E462K;ENSP00000299275:E456K;ENSP00000440611:E214K;ENSP00000439673:E456K;ENSP00000400411:E348K;ENSP00000439837:E348K;ENSP00000440371:E348K	ENSP00000299275:E456K	E	+	1	0	PLEKHA5	19327551	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	8.625000	0.90965	1.075000	0.40932	0.655000	0.94253	GAA		TCGA-2J-AABF-01A-31D-A40W-08	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	1	0	1	25	214	0	45	1	9.998247e-01	15	105	0	45	2		0	0	0	0	0	2	1	1.000000	25	209	0	43	2								-20.000000	1	1	0	0		1	1	2	3	2.301137	1	0.310000	1.840000	0.394471	0.790000	0.520000	1.000000	1.000000	0.799385	0.790000	0	6.400000e-01	9.900000e-01
PDE3A	5139	broad.mit.edu	37	12	20774340	20774340	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:20774340G>A	ENST00000359062.3	+	5	1575	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited			58	Esophageal squamous(101;0.125)	Breast(259;0.134)		Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGCAAAGTCGACCAGGTAAG	0.418000																								0							SO:0001583	missense			ENST00000359062.3	1	1	hg19	CCDS31754.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	26.7	4.765502	0.90020	.	.	ENSG00000172572	ENST00000359062	T	0.51574	0.7	5.37	4.46	0.54185	.	1.750830	0.03388	N	0.201351	T	0.60117	0.2244	L	0.55481	1.735	0.41511	D	0.988349	D	0.71674	0.998	P	0.51229	0.663	T	0.41215	-0.9521	10	0.72032	D	0.01	.	13.5478	0.61715	0.0:0.0:0.844:0.156	.	512	Q14432	PDE3A_HUMAN	Q	512	ENSP00000351957:R512Q	ENSP00000351957:R512Q	R	+	2	0	PDE3A	20665607	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	6.227000	0.72282	1.222000	0.43521	0.591000	0.81541	CGA		TCGA-2J-AABF-01A-31D-A40W-08	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2	1	0	0	14	170	0	50	0	3.126308e-01	0	14	0	50	2		0	0	0	0	0	2	1	0.999792	14	170	0	48	2								-18.854500	1	1	121376	4	38	1	1	2	3	2.301137	1	0.310000	1.840000	0.394471	0.580000	0.330000	1.000000	0.550000	0.620874	0.580000	0	4.400000e-01	7.900000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	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-2J-AABF-01A-31D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	23	198	0	52	1	9.481428e-01	8	37	0	52	2	1	1	40	383	0	383	2	1	0.999999	23	194	0	51	2								-10.407220	1	1	121404	2	44	1	1	2	3	2.301137	1	0.310000	1.840000	0.394471	0.780000	0.510000	1.000000	1.000000	0.796552	0.780000	0	6.300000e-01	1
RARG	5916	broad.mit.edu	37	12	53607867	53607867	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:53607867G>A	ENST00000425354.2	-	7	1276	c.789C>T	c.(787-789)ctC>ctT	p.L263L	RARG_ENST00000543726.1_Silent_p.L241L|RARG_ENST00000338561.5_Silent_p.L252L|RARG_ENST00000394426.1_Silent_p.L263L|RARG_ENST00000327550.3_Silent_p.L191L|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma			20				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGCAGCTTTGAGCAGAGTGA	0.532000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant			ENST00000425354.2	1	1	hg19	CCDS8850.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	0	0	1	77	1008	1	270	1	9.880883e-01	18	121	1	270	4		0	0	0	0	0	2	1	1.000000	76	992	0	264	2								-13.670260	1	1	0	0		1	0	0	0	1.940925	0	0.310000	1.840000	0.269223	0.420000	0.340000	0.530000	0.430000	0.436025	0.420000	0	3.800000e-01	4.800000e-01
HOXC12	3228	broad.mit.edu	37	12	54348951	54348951	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:54348951G>A	ENST00000243103.3	+	1	334	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12			12					CCCTCCCTTCGGCCGCACGTG	0.721000																								0							SO:0001583	missense			ENST00000243103.3	0	1	hg19	CCDS8866.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536334	0.27475	.	.	ENSG00000123407	ENST00000243103	D	0.92348	-3.02	2.85	2.85	0.33270	.	0.142741	0.48286	D	0.000198	T	0.71350	0.3329	N	0.00642	-1.3	0.32432	N	0.547853	B	0.21688	0.059	B	0.10450	0.005	T	0.71196	-0.4664	10	0.20519	T	0.43	.	7.7023	0.28630	0.1267:0.0:0.8733:0.0	.	80	P31275	HXC12_HUMAN	S	80	ENSP00000243103:G80S	ENSP00000243103:G80S	G	+	1	0	HOXC12	52635218	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	3.133000	0.50531	1.903000	0.55091	0.455000	0.32223	GGC		TCGA-2J-AABF-01A-31D-A40W-08	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358868.2	1	0	0	8	57	0	18		0	0	0	0	18	2		0	0	0	0	0	2	1	0.990316	8	56	0	16	2								-14.824040	1	1	120772	2	28	1	0	0	0	1.940925	0	0.310000	1.840000	0.269223	0.750000	0.370000	1.000000	1.000000	0.755933	0.750000	0	5.400000e-01	1
USP5	8078	broad.mit.edu	37	12	6970246	6970246	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:6970246C>T	ENST00000229268.8	+	12	1526	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S	USP5_ENST00000389231.5_Missense_Mutation_p.P492S|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)			36					GCTGCCTGTGCCCATGGATGC	0.557000																								0							SO:0001583	missense			ENST00000229268.8	1	1	hg19	CCDS41743.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055182	0.93793	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.76316	-1.01;-1.01	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.88941	0.6574	M	0.85710	2.77	0.80722	D	1	D;D	0.60160	0.981;0.987	D;P	0.66084	0.941;0.779	D	0.90329	0.4350	10	0.66056	D	0.02	-5.5005	18.5776	0.91161	0.0:1.0:0.0:0.0	.	492;492	P45974;P45974-2	UBP5_HUMAN;.	S	492;492;135	ENSP00000229268:P492S;ENSP00000373883:P492S	ENSP00000229268:P492S	P	+	1	0	USP5	6840507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.610000	0.88304	0.561000	0.74099	CCC		TCGA-2J-AABF-01A-31D-A40W-08	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1	0	0	1	45	670	1	165	1	9.747720e-01	25	190	1	165	7		0	0	0	0	0	2	1	1.000000	45	657	0	162	2								-8.531366	1	1	121412	2	35	1	1	2	3	2.301137	1	0.310000	1.840000	0.394471	0.470000	0.340000	1.000000	0.460000	0.513466	0.470000	0	4.000000e-01	5.700000e-01
CEP290	80184	broad.mit.edu	37	12	88512344	88512344	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr12:88512344C>T	ENST00000552810.1	-	17	1970	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	CEP290_ENST00000309041.7_Missense_Mutation_p.E545K|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa			73					TCTAGACTTTCAATCTGCAAA	0.333000																								0							SO:0001583	missense			ENST00000552810.1	1	1	hg19	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	C	33	5.220537	0.95139	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.66099	-0.17;-0.19	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.68123	-0.5492	10	0.07175	T	0.84	.	19.4827	0.95016	0.0:1.0:0.0:0.0	.	543;543	Q05BJ6;O15078	.;CE290_HUMAN	K	543;545;543;445	ENSP00000448012:E543K;ENSP00000308021:E545K	ENSP00000308021:E545K	E	-	1	0	CEP290	87036475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.443000	0.66581	2.601000	0.87937	0.585000	0.79938	GAA		TCGA-2J-AABF-01A-31D-A40W-08	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	1	0	1	10	41	0	18	0	4.379520e-01	1	6	0	18	2		0	0	0	0	0	2	1	0.997850	10	41	0	17	2								-9.540794	1	1	0	0		1	0	0	0	1.940925	0	0.310000	1.840000	0.269223	0.990000	0.620000	1.000000	1.000000	0.949744	0.990000	1	8.600000e-01	1
TARSL2	123283	broad.mit.edu	37	15	102252128	102252128	+	Missense_Mutation	SNP	G	G	A	rs146271638	byFrequency	TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:102252128G>A	ENST00000335968.3	-	5	983	c.767C>T	c.(766-768)cCg>cTg	p.P256L		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2			29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		TTCAATGGGCGGACCGTAGCA	0.463000																								0							SO:0001583	missense			ENST00000335968.3	1	1	hg19	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	g	21.0	4.084891	0.76642	4.54E-4	0.0	ENSG00000185418	ENST00000335968;ENST00000539112	D;D	0.84146	-1.81;-1.81	5.49	4.58	0.56647	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.108661	0.64402	N	0.000004	D	0.94637	0.8271	H	0.98446	4.235	0.80722	D	1	D	0.71674	0.998	P	0.62813	0.907	D	0.95685	0.8735	10	0.72032	D	0.01	-4.9582	12.3389	0.55083	0.0818:0.0:0.9182:0.0	.	256	A2RTX5	SYTC2_HUMAN	L	256	ENSP00000338093:P256L;ENSP00000439899:P256L	ENSP00000338093:P256L	P	-	2	0	TARSL2	100069651	1.000000	0.71417	0.382000	0.26119	0.886000	0.51366	7.731000	0.84895	1.342000	0.45619	-0.264000	0.10439	CCG		TCGA-2J-AABF-01A-31D-A40W-08	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	1	0	0	11	157	0	58	1	4.336883e-01	2	19	0	58	2		0	0	0	0	0	2	1	0.998235	10	153	0	57	2								-2.809209	1	1	121412	6	38	1	0	1	1	1.934762	0	0.310000	1.840000	0.265606	0.400000	0.210000	0.650000	0.390000	0.420875	0.400000	0	2.900000e-01	5.300000e-01
TBC1D2B	23102	broad.mit.edu	37	15	78305282	78305282	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:78305282A>T	ENST00000300584.3	-	9	2152	c.2153T>A	c.(2152-2154)cTg>cAg	p.L718Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L718Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B			26					GTTGTTGGGCAGAGTTCGCAG	0.547000																								0							SO:0001583	missense			ENST00000300584.3	1	1	hg19	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.590106|4.590106	0.86851|0.86851	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039|ENST00000409931;ENST00000300584	.|T;T	.|0.12879	.|2.64;2.64	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Rab-GAP/TBC domain (4);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.48642|0.48642	0.1511|0.1511	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.996;1.0	T|T	0.62459|0.62459	-0.6850|-0.6850	5|10	.|0.87932	.|D	.|0	.|.	15.0304|15.0304	0.71701|0.71701	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|718;170;718	.|Q9UPU7-2;Q9UPU7-3;Q9UPU7	.|.;.;TBD2B_HUMAN	S|Q	600|718	.|ENSP00000387165:L718Q;ENSP00000300584:L718Q	.|ENSP00000300584:L718Q	C|L	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76092337|76092337	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	9.109000|9.109000	0.94291|0.94291	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TGC|CTG		TCGA-2J-AABF-01A-31D-A40W-08	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	1	0	0	13	140	0	44	1	9.960452e-01	3	101	0	44	2		0	0	0	0	0	2	1	0.999574	12	139	0	44	2								-6.927146	1	1	0	0		1	0	1	1	1.934762	0	0.310000	1.840000	0.265606	0.520000	0.290000	0.810000	0.510000	0.537553	0.520000	0	3.900000e-01	6.700000e-01
FAH	2184	broad.mit.edu	37	15	80465429	80465429	+	Silent	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr15:80465429T>A	ENST00000407106.1	+	10	935	c.780T>A	c.(778-780)tcT>tcA	p.S260S	FAH_ENST00000561421.1_Silent_p.S260S|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.S260S|FAH_ENST00000539156.1_Silent_p.S190S			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)			19					CCACTGTCTCTCCGTGGGTGG	0.572000									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001819	synonymous_variant	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	ENST00000407106.1	1	1	hg19	CCDS10314.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2	0	0	1	64	277	0	98	1	9.992279e-01	13	36	0	98	2		0	0	0	0	0	2	1	1.000000	64	271	0	98	2								-20.000000	1	1	0	0		1	0	1	1	1.934762	0	0.310000	1.840000	0.265606	0.990000	0.890000	1.000000	1.000000	0.992153	0.990000	1	9.900000e-01	1
ASGR2	433	broad.mit.edu	37	17	7010342	7010342	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7010342C>T	ENST00000380952.2	-	7	904	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ASGR2_ENST00000446679.2_Missense_Mutation_p.V195I|ASGR2_ENST00000254850.7_Missense_Mutation_p.V190I|ASGR2_ENST00000355035.5_Missense_Mutation_p.V214I	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2			18				Antihemophilic Factor(DB00025)	GAGTTGATGACCACCAGGTGT	0.607000																								0							SO:0001583	missense			ENST00000380952.2	1	1	hg19	CCDS32544.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969611	0.74246	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.45	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40064	N	0.001193	T	0.21962	0.0529	N	0.17594	0.5	0.29055	N	0.88428	D;D;P;P;P	0.63880	0.993;0.977;0.787;0.747;0.894	D;D;P;P;D	0.79108	0.992;0.958;0.799;0.735;0.93	T	0.05818	-1.0862	10	0.13108	T	0.6	.	12.9277	0.58270	0.0:1.0:0.0:0.0	.	190;214;209;195;214	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	I	214;190;214;195	ENSP00000347140:V214I;ENSP00000254850:V190I;ENSP00000370339:V214I;ENSP00000405844:V195I	ENSP00000254850:V190I	V	-	1	0	ASGR2	6951066	0.695000	0.27747	0.999000	0.59377	0.873000	0.50193	0.624000	0.24462	2.175000	0.68902	0.609000	0.83330	GTC		TCGA-2J-AABF-01A-31D-A40W-08	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	1	0	0	18	205	0	73	0	1.749994e-01	0	9	0	73	2		0	0	0	0	0	2	1	0.999982	18	200	0	71	2								-7.478645	1	1	0	0		1	0	1	1	1.790887	1	0.310000	1.840000	0.189380	0.440000	0.270000	0.650000	0.440000	0.454874	0.440000	0	3.500000e-01	5.500000e-01
TP53	7157	broad.mit.edu	37	17	7577555	7577555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr17:7577555G>T	ENST00000269305.4	-	7	915	c.726C>A	c.(724-726)tgC>tgA	p.C242*	TP53_ENST00000445888.2_Nonsense_Mutation_p.C242*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C242*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C242*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C242*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C242*	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.0?(8)|p.C242W(7)|p.?(5)|p.C242*(3)|p.N239_C242delNSSC(3)|p.C242C(2)|p.C242fs*20(1)|p.C242F(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TGCCGCCCATGCAGGAACTGT	0.582000		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	37	Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(7)|Unknown(5)|Substitution - Nonsense(3)|Deletion - Frameshift(3)|Substitution - coding silent(2)|Complex - deletion inframe(1)						SO:0001587	stop_gained	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	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701385	0.68501	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	4.62	3.65	0.41850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.558	7.3895	0.26901	0.195:0.0:0.805:0.0	.	.	.	.	X	242;242;242;242;242;242;231;149;110;149	.	ENSP00000269305:C242X	C	-	3	2	TP53	7518280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.984000	0.40658	1.305000	0.44909	0.462000	0.41574	TGC		TCGA-2J-AABF-01A-31D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	36	156	0	68	1	9.999966e-01	6	83	0	68	2	1	1	135	683	0	1028	2	1	1.000000	36	153	0	67	2								-19.989310	1	1	0	0		1	0	1	1	1.790887	1	0.310000	1.840000	0.189380	0.920000	0.710000	1.000000	1.000000	0.914840	0.920000	1	8.200000e-01	1
LRP3	4037	broad.mit.edu	37	19	33696978	33696978	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:33696978C>T	ENST00000253193.7	+	5	1504	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3			15	Esophageal squamous(110;0.137)				ACACGCCTGCCGACCGCTGCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000253193.7	0	1	hg19	CCDS12430.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4	0	0	0	5	49	0	9	1	9.887263e-01	5	87	0	9	2		0	0	0	0	0	2	1	0.934407	5	47	0	9	2								-10.684920	1	1	121230	1	25	1	2	2	4	2.270761	1	0.310000	1.840000	0.377537	0.810000	0.290000	1.000000	1.000000	0.772494	0.810000	0	4.900000e-01	1
SIGLEC8	27181	broad.mit.edu	37	19	51961269	51961269	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:51961269G>A	ENST00000321424.3	-	1	439	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R125W|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R125W|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8			50		all_neural(266;0.0199)			CTCTCTAGCCGAAAGAAATAT	0.502000																								0							SO:0001583	missense			ENST00000321424.3	1	1	hg19	CCDS33086.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.84	2.358199	0.41801	0.0	1.16E-4	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.66638	-0.22;-0.22;-0.22	2.56	-2.68	0.06041	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.069320	0.07486	N	0.904738	T	0.81574	0.4851	M	0.87038	2.855	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.87578	0.952;0.998;0.853	T	0.71889	-0.4456	10	0.72032	D	0.01	.	9.4331	0.38622	0.0:0.0:0.7045:0.2955	.	125;125;125	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	W	125	ENSP00000389142:R125W;ENSP00000321077:R125W;ENSP00000339448:R125W	ENSP00000321077:R125W	R	-	1	2	SIGLEC8	56653081	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-2.251000	0.01186	-0.676000	0.05238	0.398000	0.26397	CGG		TCGA-2J-AABF-01A-31D-A40W-08	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	1	0	0	30	594	1	152	0	2.235339e-01	0	18	1	152	2		0	0	0	0	0	2	1	0.992199	30	589	1	146	15								-4.415848	1	1	121412	3	39	1	2	2	4	2.309679	1	0.310000	1.840000	0.387809	0.370000	0.240000	1.000000	0.340000	0.509343	0.370000	0	3.000000e-01	1
ZNF83	55769	broad.mit.edu	37	19	53117004	53117004	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:53117004G>A	ENST00000597597.1	-	2	3067	c.814C>T	c.(814-816)Cat>Tat	p.H272Y	ZNF83_ENST00000544146.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.H272Y|ZNF83_ENST00000545872.1_Missense_Mutation_p.H272Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.H272Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.H272Y			P51522	ZNF83_HUMAN	zinc finger protein 83			18					TGTGAAATATGATGGAAGACC	0.418000																								0							SO:0001583	missense			ENST00000597597.1	1	1	hg19	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	N	0.067	-1.211291	0.01555	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000545872;ENST00000541777	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	1.64	-3.27	0.05048	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.16903	0.455	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.46470	-0.9189	9	0.16896	T	0.51	.	1.1943	0.01871	0.4524:0.1528:0.2408:0.154	.	272	P51522	ZNF83_HUMAN	Y	272	ENSP00000445993:H272Y;ENSP00000301096:H272Y;ENSP00000445470:H272Y;ENSP00000440713:H272Y;ENSP00000439681:H272Y	ENSP00000301096:H272Y	H	-	1	0	ZNF83	57808816	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.434000	0.01021	-1.221000	0.02591	0.411000	0.27672	CAT		TCGA-2J-AABF-01A-31D-A40W-08	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	1	0	0	20	446	0	130	1	9.055210e-01	2	91	0	130	2		0	0	0	0	0	2	1	0.999995	20	441	0	125	2								-19.541450	1	1	0	0		1	2	2	4	2.309679	1	0.310000	1.840000	0.387809	0.340000	0.200000	1.000000	0.310000	0.483310	0.340000	0	2.600000e-01	1
NLRP7	199713	broad.mit.edu	37	19	55452821	55452821	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:55452821C>T	ENST00000590030.1	-	1	299	c.259G>A	c.(259-261)Gca>Aca	p.A87T	NLRP7_ENST00000446217.1_Missense_Mutation_p.A115T|NLRP7_ENST00000588756.1_Missense_Mutation_p.A87T|NLRP7_ENST00000592784.1_Missense_Mutation_p.A87T|NLRP7_ENST00000340844.2_Missense_Mutation_p.A87T|NLRP7_ENST00000328092.5_Missense_Mutation_p.A87T|NLRP7_ENST00000448121.2_Missense_Mutation_p.A87T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7			73					TCAGCCTTTGCCATCTTACAC	0.423000																								0							SO:0001583	missense			ENST00000590030.1	0	1	hg19	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186220	0.38609	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	1.38	1.38	0.22167	Pyrin (2);DEATH-like (2);	1.450530	0.05136	N	0.493515	T	0.64757	0.2627	M	0.70595	2.14	0.09310	N	1	D;D;D;P	0.67145	0.996;0.996;0.996;0.947	D;D;D;P	0.69479	0.964;0.951;0.951;0.695	T	0.44892	-0.9298	10	0.72032	D	0.01	.	6.1849	0.20491	0.0:1.0:0.0:0.0	.	115;87;87;87	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	T	87;87;87;115;87	ENSP00000329568:A87T;ENSP00000409137:A87T;ENSP00000339491:A87T;ENSP00000414273:A115T	ENSP00000329568:A87T	A	-	1	0	NLRP7	60144633	0.030000	0.19436	0.002000	0.10522	0.029000	0.11900	1.832000	0.39151	1.055000	0.40461	0.462000	0.41574	GCA		TCGA-2J-AABF-01A-31D-A40W-08	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	0	0	0	5	389	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	0.929433	5	370	0	90	2								-2.450380	0	1	0	0		1	2	2	4	2.319363	1	0.310000	1.840000	0.391159	0.110000	0.030000	1.000000	0.090000	0.321680	0.110000	0	6.000000e-02	1
ZNF470	388566	broad.mit.edu	37	19	57089047	57089047	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:57089047G>T	ENST00000330619.8	+	6	1936	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R417I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	p.R417I(1)		41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)			CAGCATAAGAGAACTCATACT	0.418000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000330619.8	1	1	hg19	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011176	0.35511	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.02446	4.29;4.29	4.26	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	L	0.60012	1.86	0.36453	D	0.866185	P	0.39717	0.684	B	0.35510	0.204	T	0.45891	-0.9230	9	0.54805	T	0.06	.	6.2006	0.20573	0.0973:0.0:0.7151:0.1876	.	417	Q6ECI4	ZN470_HUMAN	I	417	ENSP00000375590:R417I;ENSP00000333223:R417I	ENSP00000333223:R417I	R	+	2	0	ZNF470	61780859	0.612000	0.27000	0.991000	0.47740	0.222000	0.24845	3.579000	0.53900	0.965000	0.38133	0.650000	0.86243	AGA		TCGA-2J-AABF-01A-31D-A40W-08	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	1	0	0	16	324	0	76	0	7.537532e-03	0	3	0	76	2		0	0	0	0	0	2	1	0.999935	16	322	0	75	2								-17.254740	1	1	0	0		1	2	2	4	2.319363	1	0.310000	1.840000	0.391159	0.380000	0.210000	1.000000	0.340000	0.513393	0.380000	0	2.800000e-01	1
TIMM44	10469	broad.mit.edu	37	19	7998774	7998774	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr19:7998774C>T	ENST00000270538.3	-	6	926	c.658G>A	c.(658-660)Gag>Aag	p.E220K	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)			17					ACTTTCTCCTCCTTGAACTTA	0.587000																								0							SO:0001583	missense			ENST00000270538.3	1	1	hg19	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126410	0.37533	.	.	ENSG00000104980	ENST00000270538	T	0.77098	-1.07	5.22	2.99	0.34606	.	0.198544	0.53938	D	0.000059	T	0.62684	0.2448	L	0.33485	1.01	0.45979	D	0.998796	B	0.16396	0.017	B	0.13407	0.009	T	0.53365	-0.8449	10	0.15952	T	0.53	-30.6154	8.8822	0.35380	0.0:0.7654:0.1496:0.085	.	220	O43615	TIM44_HUMAN	K	220	ENSP00000270538:E220K	ENSP00000270538:E220K	E	-	1	0	TIMM44	7904774	0.545000	0.26449	0.962000	0.40283	0.719000	0.41307	1.125000	0.31332	1.206000	0.43276	0.561000	0.74099	GAG		TCGA-2J-AABF-01A-31D-A40W-08	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3	1	0	1	27	196	0	77	1	9.994582e-01	29	59	0	77	2		0	0	0	0	0	2	1	1.000000	26	191	0	75	2								-3.143211	1	1	0	0		1	0	1	1	1.874815	1	0.310000	1.840000	0.253287	0.710000	0.490000	0.980000	0.720000	0.730587	0.710000	0	5.900000e-01	8.600000e-01
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	p.?(1)		30	all_hematologic(112;0.0378)				AGAGGCAAACGTAAGTCTCCC	0.512000																								1	Unknown(1)						SO:0001630	splice_region_variant			ENST00000368171.3	1	1	hg19	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447165	0.25987	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6401	0.51228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1D	156420450	0.982000	0.34865	0.257000	0.24404	0.009000	0.06853	2.797000	0.47877	2.450000	0.82876	0.650000	0.86243	.		TCGA-2J-AABF-01A-31D-A40W-08	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	1	0	0	43	472	0	137		0	0	0	0	137	2		0	0	0	0	0	2	1	1.000000	42	463	0	136	2								-11.776860	1	1	121412	2	35	1	1	2	3	2.291073	1	0.310000	1.840000	0.374915	0.620000	0.440000	1.000000	0.590000	0.688577	0.620000	0	5.200000e-01	1
PYHIN1	149628	broad.mit.edu	37	1	158913710	158913710	+	Missense_Mutation	SNP	G	G	A	rs148035759		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:158913710G>A	ENST00000368140.1	+	6	1378	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PYHIN1_ENST00000392254.2_Missense_Mutation_p.R378Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.R369Q|PYHIN1_ENST00000368138.3_Missense_Mutation_p.R369Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1			60	all_hematologic(112;0.0378)				TTCTGCTTTCGACTGAGAAAG	0.363000																								0							SO:0001583	missense			ENST00000368140.1	0	1	hg19	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	0.080	-1.185136	0.01620	6.81E-4	0.0	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	3.13	0.627	0.17675	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01523	0.0049	N	0.21142	0.635	0.09310	N	1	P;P;P;P	0.44429	0.703;0.688;0.703;0.835	B;B;B;B	0.28638	0.023;0.055;0.023;0.092	T	0.45011	-0.9290	9	0.18710	T	0.47	.	5.1931	0.15220	0.7652:0.0:0.2348:0.0	.	369;378;369;378	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	378;369;378;369	ENSP00000357122:R378Q;ENSP00000357120:R369Q;ENSP00000376083:R378Q;ENSP00000376082:R369Q	ENSP00000357120:R369Q	R	+	2	0	PYHIN1	157180334	0.001000	0.12720	0.006000	0.13384	0.046000	0.14306	1.336000	0.33850	-0.002000	0.14469	-0.150000	0.13652	CGA		TCGA-2J-AABF-01A-31D-A40W-08	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	0	0	0	8	260	0	60	0	1.022081e-01	0	16	0	60	2		0	0	0	0	0	2	1	0.989178	8	257	0	60	2								-3.346097	1	1	121412	5	38	1	1	2	3	2.291073	1	0.310000	1.840000	0.374915	0.250000	0.100000	1.000000	0.210000	0.398903	0.250000	0	1.600000e-01	1
DDR2	4921	broad.mit.edu	37	1	162729744	162729744	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:162729744G>A	ENST00000367922.3	+	9	1268	c.830G>A	c.(829-831)cGc>cAc	p.R277H	DDR2_ENST00000367921.3_Missense_Mutation_p.R277H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2			7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)	Regorafenib(DB08896)	GAATTTGACCGCATCAGGAAT	0.498000													NSCLC(161;314 2006 8283 19651 23192)											0							SO:0001583	missense			ENST00000367922.3	0	1	hg19	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970789	0.74246	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.56776	0.44;0.44	5.6	4.69	0.59074	.	0.048244	0.85682	D	0.000000	T	0.27832	0.0685	L	0.46670	1.46	0.39846	D	0.973175	B	0.34241	0.444	B	0.24701	0.055	T	0.24905	-1.0147	9	0.51188	T	0.08	.	13.4248	0.61020	0.0763:0.0:0.9237:0.0	.	277	Q16832	DDR2_HUMAN	H	277	ENSP00000356899:R277H;ENSP00000356898:R277H	ENSP00000356898:R277H	R	+	2	0	DDR2	160996368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.328000	0.96403	1.368000	0.46115	0.549000	0.68633	CGC		TCGA-2J-AABF-01A-31D-A40W-08	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	0	0	0	5	298	0	61	0	6.312859e-02	0	20	0	61	2		0	0	0	0	0	2	1	0.936957	5	296	0	60	2								-2.607391	1	1	121412	1	29	1	1	2	3	2.291073	1	0.310000	1.840000	0.374915	0.140000	0.040000	1.000000	0.110000	0.322922	0.140000	0	8.000000e-02	1
UBR4	23352	broad.mit.edu	37	1	19505631	19505631	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:19505631C>T	ENST00000375254.3	-	18	2295	c.2268G>A	c.(2266-2268)gtG>gtA	p.V756V	UBR4_ENST00000375217.2_Silent_p.V756V|UBR4_ENST00000375267.2_Silent_p.V756V|UBR4_ENST00000375226.2_Silent_p.V756V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4			171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)			GGCGTGAAAGCACAGAGAGGC	0.507000																								0							SO:0001819	synonymous_variant			ENST00000375254.3	1	1	hg19	CCDS189.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	1	0	1	66	406	0	132	1	9.578294e-01	4	30	0	132	2		0	0	0	0	0	2	1	1.000000	66	405	0	130	2								-20.000000	1	1	0	0		1	1	2	3	2.136323	0	0.310000	1.840000	0.325678	0.930000	0.730000	1.000000	1.000000	0.923022	0.930000	1	8.200000e-01	1
HSPG2	3339	broad.mit.edu	37	1	22216568	22216568	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216568C>G	ENST00000374695.3	-	6	559	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2			127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Palifermin(DB00039)	TCTCCTGAATCTGAGCCCCAT	0.622000																								0							SO:0001583	missense			ENST00000374695.3	1	1	hg19	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.51|15.51	2.856016|2.856016	0.51376|0.51376	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	T;T|T	0.76186|0.54675	-1.0;0.77|0.56	5.44|5.44	4.53|4.53	0.55603|0.55603	SEA (2);|.	0.000000|.	0.37857|.	N|.	0.001913|.	T|T	0.58906|0.58906	0.2155|0.2155	L|L	0.29908|0.29908	0.895|0.895	0.51233|0.51233	D|D	0.999914|0.999914	D|D	0.67145|0.89917	0.996|1.0	D|D	0.64042|0.71656	0.921|0.974	T|T	0.62576|0.62576	-0.6825|-0.6825	10|9	0.87932|0.72032	D|D	0|0.01	.|.	11.8428|11.8428	0.52364|0.52364	0.0:0.9161:0.0:0.0839|0.0:0.9161:0.0:0.0839	.|.	160|83	P98160|Q5SZI5	PGBM_HUMAN|.	H|T	160;126|83	ENSP00000363827:Q160H;ENSP00000395884:Q126H|ENSP00000405412:R83T	ENSP00000363827:Q160H|ENSP00000405412:R83T	Q|R	-|-	3|2	2|0	HSPG2|HSPG2	22089155|22089155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.067000|0.067000	0.16453|0.16453	5.185000|5.185000	0.65076|0.65076	1.533000|1.533000	0.49186|0.49186	0.650000|0.650000	0.86243|0.86243	CAG|AGA		TCGA-2J-AABF-01A-31D-A40W-08	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	0	44	429	0	118	0	9.999975e-01	0	187	0	118	2		0	0	0	0	0	2	1	1.000000	40	422	0	116	2								-13.981740	1	0	0	0		1						0.310000	1.840000									0	0
HSPG2	3339	broad.mit.edu	37	1	22216609	22216609	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:22216609C>A	ENST00000374695.3	-	6	518	c.439G>T	c.(439-441)Gag>Tag	p.E147*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2			127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		Palifermin(DB00039)	ACATCCAGCTCCACAAAAACC	0.617000																								0							SO:0001587	stop_gained			ENST00000374695.3	0	1	hg19	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.666493|4.666493	0.88251|0.88251	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000374695;ENST00000439717|ENST00000412328	.|T	.|0.55413	.|0.52	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.40385|.	N|.	0.001116|.	.|T	.|0.73187	.|0.3555	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	.|T	.|0.75659	.|-0.3241	.|7	0.87932|0.66056	D|D	0|0.02	.|.	16.8112|16.8112	0.85720|0.85720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|69	.|Q5SZI5	.|.	X|C	147;113|69	.|ENSP00000405412:W69C	ENSP00000363827:E147X|ENSP00000405412:W69C	E|W	-|-	1|3	0|0	HSPG2|HSPG2	22089196|22089196	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	6.844000|6.844000	0.75390|0.75390	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAG|TGG		TCGA-2J-AABF-01A-31D-A40W-08	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	1	0	0	43	374	0	113	0	9.999994e-01	0	188	0	113	2		0	0	0	0	0	2	1	1.000000	39	368	0	110	2								-14.858780	1	0	0	0		1						0.310000	1.840000									0	0
TMEM63A	9725	broad.mit.edu	37	1	226037743	226037743	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:226037743C>T	ENST00000366835.3	-	21	2211	c.1941G>A	c.(1939-1941)cgG>cgA	p.R647R		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A			24	Breast(184;0.197)				AGAGGTTGTGCCGGTCCACCA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000366835.3	0	1	hg19	CCDS31042.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	0	0	0	5	476	0	97	0	8.750074e-01	1	359	0	97	2		0	0	0	0	0	2	1	0.936118	5	471	0	96	2								-1.918755	0	1	0	0		1	1	2	3	2.294266	1	0.310000	1.840000	0.372271	0.090000	0.020000	1.000000	0.080000	0.290918	0.090000	0	5.000000e-02	1
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:237550598C>T	ENST00000366574.2	+	9	911	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RYR2_ENST00000542537.1_Silent_p.N182N|RYR2_ENST00000360064.6_Silent_p.N196N	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)		CTTATGGCAACGGCAGCTTAC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000366574.2	1	1	hg19	CCDS55691.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	1	0	1	55	349	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	1.000000	54	342	0	87	2								-20.000000	1	1	120902	39	47	1	1	2	3	2.294266	1	0.310000	1.840000	0.372271	0.990000	0.750000	1.000000	1.000000	0.951265	0.990000	1	8.600000e-01	1
PGBD2	267002	broad.mit.edu	37	1	249212345	249212345	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:249212345C>T	ENST00000329291.5	+	3	1709	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	PGBD2_ENST00000539153.1_Missense_Mutation_p.A518V|PGBD2_ENST00000355360.4_Missense_Mutation_p.A270V	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2			14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		AGATACATTGCCTGTGTGTAT	0.532000																								0							SO:0001583	missense			ENST00000329291.5	0	1	hg19	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.299979	0.23650	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.14893	2.47;2.67;2.67	3.05	3.05	0.35203	.	0.122356	0.33650	N	0.004692	T	0.15392	0.0371	N	0.04018	-0.295	0.30874	N	0.73219	P;D	0.76494	0.778;0.999	B;D	0.80764	0.262;0.994	T	0.06092	-1.0846	10	0.14656	T	0.56	.	9.8324	0.40950	0.0:1.0:0.0:0.0	.	518;521	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	V	270;521;518	ENSP00000355424:A270V;ENSP00000331643:A521V;ENSP00000439950:A518V	ENSP00000331643:A521V	A	+	2	0	PGBD2	247178968	0.994000	0.37717	0.937000	0.37676	0.055000	0.15305	1.573000	0.36472	1.999000	0.58509	0.467000	0.42956	GCC		TCGA-2J-AABF-01A-31D-A40W-08	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1	0	0	0	5	263	0	66	0	3.080870e-01	1	50	0	66	2		0	0	0	0	0	2	1	0.936888	5	261	0	64	2								-6.091882	1	1	0	0		1						0.310000	1.840000									0	0
GRIK3	2899	broad.mit.edu	37	1	37346362	37346362	+	Silent	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr1:37346362C>A	ENST00000373091.3	-	3	439	c.423G>T	c.(421-423)ccG>ccT	p.P141P	GRIK3_ENST00000373093.4_Silent_p.P141P	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3			89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			TGTTGTCCAGCGGGTGGTGCT	0.612000																								0							SO:0001819	synonymous_variant			ENST00000373091.3	1	1	hg19	CCDS416.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	1	0	1	30	210	0	55	0	1.686903e-02	0	2	0	55	2		0	0	0	0	0	2	1	1.000000	30	206	0	54	2								-3.222486	1	1	0	0		1	1	2	3	2.129237	0	0.310000	1.840000	0.324655	0.840000	0.580000	1.000000	1.000000	0.846405	0.840000	0	7.000000e-01	1
NFS1	9054	broad.mit.edu	37	20	34260692	34260692	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:34260692C>T	ENST00000374092.4	-	12	1365	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	NFS1_ENST00000540053.1_Missense_Mutation_p.R230H|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.V92I|NFS1_ENST00000397425.1_Missense_Mutation_p.R372H|NFS1_ENST00000374085.1_Missense_Mutation_p.R372H|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000541387.1_Missense_Mutation_p.R381H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase			18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)	L-Alanine(DB00160)|L-Cysteine(DB00151)	TTCTCGAAGACGCTTCACATG	0.458000																								0							SO:0001583	missense			ENST00000374092.4	1	1	hg19	CCDS13262.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.6	4.850104	0.91277	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000540053;ENST00000541387	T;T;T;T;T	0.48522	1.78;2.8;2.8;0.81;1.78	5.26	4.32	0.51571	Pyridoxal phosphate-dependent transferase, major domain (1);	0.050804	0.85682	D	0.000000	T	0.67850	0.2937	M	0.82132	2.575	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.66497	0.944;0.651	T	0.73285	-0.4031	10	0.62326	D	0.03	-6.6659	14.1886	0.65623	0.0:0.9281:0.0:0.0719	.	381;432	F5GYK5;Q9Y697	.;NFS1_HUMAN	H	432;372;372;230;381	ENSP00000363205:R432H;ENSP00000363198:R372H;ENSP00000380570:R372H;ENSP00000438594:R230H;ENSP00000440897:R381H	ENSP00000363198:R372H	R	-	2	0	NFS1	33724106	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.285000	0.78660	1.450000	0.47717	0.563000	0.77884	CGT		TCGA-2J-AABF-01A-31D-A40W-08	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	0	0	0	15	185	0	74	1	9.782217e-01	9	72	0	74	2		0	0	0	0	0	2	1	0.999878	15	182	0	73	2								-19.570460	1	1	121412	8	38	1	1	2	3	2.090793	0	0.310000	1.840000	0.318451	0.500000	0.290000	1.000000	0.490000	0.543230	0.500000	0	3.900000e-01	6.700000e-01
KIAA1755	85449	broad.mit.edu	37	20	36868017	36868017	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:36868017T>C	ENST00000279024.4	-	4	1931	c.1660A>G	c.(1660-1662)Acc>Gcc	p.T554A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755			54		Myeloproliferative disorder(115;0.00874)			TCCTCCAGGGTGGGGCCTCTT	0.617000																								0							SO:0001583	missense			ENST00000279024.4	1	1	hg19	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	0.464	-0.887640	0.02511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.05025	3.51	4.43	-5.28	0.02755	.	1.521150	0.03937	N	0.286316	T	0.02688	0.0081	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44174	-0.9345	10	0.10111	T	0.7	.	6.8638	0.24082	0.0:0.3583:0.4205:0.2212	.	554	Q5JYT7	K1755_HUMAN	A	554;101	ENSP00000279024:T554A	ENSP00000279024:T554A	T	-	1	0	KIAA1755	36301431	0.000000	0.05858	0.000000	0.03702	0.713000	0.41058	-2.726000	0.00808	-0.948000	0.03668	0.374000	0.22700	ACC		TCGA-2J-AABF-01A-31D-A40W-08	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	1	0	0	15	265	0	71	0	1.870539e-01	1	13	0	71	2		0	0	0	0	0	2	1	0.999863	15	260	0	71	2								-5.252286	1	1	0	0		1	1	2	3	2.090793	0	0.310000	1.840000	0.318451	0.360000	0.200000	1.000000	0.350000	0.408441	0.360000	0	2.700000e-01	4.800000e-01
CDC25B	994	broad.mit.edu	37	20	3785242	3785242	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:3785242G>A	ENST00000245960.5	+	15	2214	c.1517G>A	c.(1516-1518)cGt>cAt	p.R506H	CDC25B_ENST00000439880.2_Missense_Mutation_p.R492H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R415H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R442H|CDC25B_ENST00000340833.4_Missense_Mutation_p.R465H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B			18					GAACGAGACCGTGCTGTCAAC	0.592000																								0							SO:0001583	missense			ENST00000245960.5	1	1	hg19	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895500	0.72639	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.15	4.19	0.49359	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	H	0.97365	3.99	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;0.999	T	0.76323	-0.3001	10	0.87932	D	0	-33.0368	12.1596	0.54098	0.0851:0.0:0.9149:0.0	.	415;428;442;465;492;506	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	H	442;415;506;492;465	ENSP00000339125:R442H;ENSP00000368918:R415H;ENSP00000245960:R506H;ENSP00000405972:R492H;ENSP00000339170:R465H	ENSP00000245960:R506H	R	+	2	0	CDC25B	3733242	1.000000	0.71417	0.201000	0.23476	0.563000	0.35712	9.313000	0.96297	1.295000	0.44724	0.563000	0.77884	CGT		TCGA-2J-AABF-01A-31D-A40W-08	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	1	0	1	112	567	0	128	1	1	83	225	0	128	2		0	0	0	0	0	2	1	1.000000	110	552	0	128	2								-20.000000	1	1	0	0		1	2	3	5	2.260024	1	0.310000	1.840000	0.374036	0.990000	0.980000	1.000000	1.000000	0.998895	0.990000	1	9.900000e-01	1
NTSR1	4923	broad.mit.edu	37	20	61341006	61341006	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61341006C>T	ENST00000370501.3	+	1	818	c.447C>T	c.(445-447)gaC>gaT	p.D149D		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)			27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		TCCTGCGCGACGCCTGCACCT	0.662000													GBM(37;400 780 6403 19663 35669)											0							SO:0001819	synonymous_variant			ENST00000370501.3	1	1	hg19	CCDS13502.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1	1	0	0	18	271	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.999978	18	261	0	60	2								-19.974640	1	1	0	0		1	1	2	3	2.090793	0	0.310000	1.840000	0.318451	0.420000	0.250000	1.000000	0.410000	0.460417	0.420000	0	3.200000e-01	5.500000e-01
DIDO1	11083	broad.mit.edu	37	20	61511164	61511164	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr20:61511164G>A	ENST00000266070.4	-	16	6469	c.6144C>T	c.(6142-6144)tcC>tcT	p.S2048S	DIDO1_ENST00000395343.1_Silent_p.S2048S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1			99	Breast(26;5.68e-08)				AGGAGAGCGCGGAGGGCGGCC	0.721000													Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)											0							SO:0001819	synonymous_variant			ENST00000266070.4	1	1	hg19	CCDS33506.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	1	0	0	28	384	0	142	1	6.214326e-01	3	27	0	142	2		0	0	0	0	0	2	1	1.000000	27	354	0	138	2								-7.472040	1	1	118276	4	38	1	1	2	3	2.090793	0	0.310000	1.840000	0.318451	0.450000	0.300000	1.000000	0.440000	0.490211	0.450000	0	3.700000e-01	5.600000e-01
RFPL1	5988	broad.mit.edu	37	22	29837713	29837713	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:29837713G>A	ENST00000354373.2	+	2	765	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	RFPL1S_ENST00000461286.3_RNA|RFPL1S_ENST00000539579.1_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1			16					GGAGGTGGACGTGGGAACAAG	0.562000																								0							SO:0001583	missense			ENST00000354373.2	1	1	hg19	CCDS13857.2	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436705	0.43224	.	.	ENSG00000128250	ENST00000354373	T	0.74526	-0.85	0.911	-0.286	0.12862	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.80737	0.4680	M	0.72894	2.215	0.23943	N	0.9964	D	0.76494	0.999	D	0.68353	0.957	T	0.67317	-0.5701	9	0.66056	D	0.02	.	5.1838	0.15174	0.2409:0.0:0.7591:0.0	.	186	O75677	RFPL1_HUMAN	M	186	ENSP00000346342:V186M	ENSP00000346342:V186M	V	+	1	0	RFPL1	28167713	1.000000	0.71417	0.005000	0.12908	0.397000	0.30659	2.655000	0.46707	-0.047000	0.13423	0.184000	0.17185	GTG		TCGA-2J-AABF-01A-31D-A40W-08	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	1	0	0	32	354	0	99	0	2.096716e-02	0	3	0	99	2		0	0	0	0	0	2	1	1.000000	26	306	0	102	2								-9.805426	1	1	121410	1	37	1	0	1	1	1.797465	1	0.310000	1.840000	0.193784	0.450000	0.310000	0.610000	0.450000	0.464573	0.450000	0	3.800000e-01	5.400000e-01
CACNA1I	8911	broad.mit.edu	37	22	40060900	40060900	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:40060900C>T	ENST00000402142.3	+	21	3823	c.3823C>T	c.(3823-3825)Cgg>Tgg	p.R1275W	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1240W|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1240W|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1275W|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1281W|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1240W	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit			60	Melanoma(58;0.0749)			Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGAGTCTTGCGGCTCCTGCG	0.637000																								0							SO:0001583	missense			ENST00000402142.3	0	1	hg19	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198582	0.58126	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	4.3	3.27	0.37495	Ion transport (1);	0.062424	0.64402	D	0.000005	D	0.99548	0.9838	H	0.99732	4.735	0.51767	D	0.99993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97772	1.0227	10	0.87932	D	0	.	13.5507	0.61730	0.1567:0.8433:0.0:0.0	.	1240;1275;1240;1275	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	W	1275;1240;1275;1240;1281;1240	ENSP00000385019:R1275W;ENSP00000384093:R1240W;ENSP00000383887:R1275W;ENSP00000385680:R1240W;ENSP00000337829:R1281W;ENSP00000383028:R1240W	ENSP00000337829:R1281W	R	+	1	2	CACNA1I	38390846	0.828000	0.29307	1.000000	0.80357	0.393000	0.30537	0.692000	0.25482	0.791000	0.33826	0.462000	0.41574	CGG		TCGA-2J-AABF-01A-31D-A40W-08	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	0	0	0	5	190	0	70	0	0	0	1	0	70	2		0	0	0	0	0	2	1	0.930286	5	181	0	69	2								-2.691682	1	1	0	0		1	0	1	1	1.797465	1	0.310000	1.840000	0.193784	0.150000	0.050000	0.300000	0.140000	0.164602	0.150000	0	9.000000e-02	2.300000e-01
PKDREJ	10343	broad.mit.edu	37	22	46654414	46654414	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr22:46654414G>A	ENST00000253255.5	-	1	4805	c.4806C>T	c.(4804-4806)taC>taT	p.Y1602Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly			73		Ovarian(80;0.00965)|all_neural(38;0.0416)			TGTCATAGCCGTAAGTCAGTC	0.398000																								0							SO:0001819	synonymous_variant			ENST00000253255.5	0	1	hg19	CCDS14073.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	0	0	0	4	201	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.885317	4	196	0	66	2								-2.890020	1	1	0	0		1	0	1	1	1.797465	1	0.310000	1.840000	0.193784	0.110000	0.030000	0.250000	0.110000	0.130680	0.110000	0	6.000000e-02	1.800000e-01
TPO	7173	broad.mit.edu	37	2	1497609	1497609	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:1497609C>T	ENST00000345913.4	+	11	1895	c.1804C>T	c.(1804-1806)Cgc>Tgc	p.R602C	TPO_ENST00000382198.1_Missense_Mutation_p.R429C|TPO_ENST00000329066.4_Missense_Mutation_p.R602C|TPO_ENST00000382201.3_Missense_Mutation_p.R545C|TPO_ENST00000337415.3_Missense_Mutation_p.R602C|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R429C|TPO_ENST00000346956.3_Missense_Mutation_p.R602C	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase			95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGCCTGCCTCGCCTGGAGAC	0.572000																								0							SO:0001583	missense			ENST00000345913.4	1	1	hg19	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795939	0.31777	0.0	1.16E-4	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	4.84	-0.86	0.10680	.	0.089088	0.64402	D	0.000001	D	0.84552	0.5497	H	0.94306	3.52	0.19300	N	0.999975	D;D;D;D	0.89917	1.0;0.967;1.0;1.0	D;B;D;D	0.78314	0.984;0.386;0.976;0.991	T	0.75462	-0.3309	10	0.87932	D	0	-13.2581	7.6609	0.28402	0.4098:0.4419:0.1484:0.0	.	602;429;545;602	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	C	602;602;602;429;602;545;429;531;76	ENSP00000337263:R602C;ENSP00000318820:R602C;ENSP00000263886:R602C;ENSP00000332044:R429C;ENSP00000329869:R602C;ENSP00000371636:R545C;ENSP00000371633:R429C;ENSP00000405788:R531C;ENSP00000419461:R76C	ENSP00000329869:R602C	R	+	1	0	TPO	1476616	0.002000	0.14202	0.000000	0.03702	0.088000	0.18126	1.273000	0.33121	-0.338000	0.08413	0.561000	0.74099	CGC		TCGA-2J-AABF-01A-31D-A40W-08	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	1	0	1	14	93	0	24	0	0	0	1	0	24	2		0	0	0	0	0	2	1	0.999784	14	90	0	24	2								-19.998640	1	1	0	0		1	0	0	0	1.870656	1	0.310000	1.840000	0.241842	0.760000	0.450000	1.000000	1.000000	0.770252	0.760000	0	5.900000e-01	9.600000e-01
SCN9A	6335	broad.mit.edu	37	2	167168078	167168078	+	Silent	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:167168078A>G	ENST00000409435.1	-	1	188	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000303354.6_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y			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)	GAATGTCCCCATAGATGAAGG	0.473000																								0							SO:0001819	synonymous_variant			ENST00000409435.1	1	1	hg19	CCDS46441.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	1	0	0	20	225	0	86	0	6.246450e-02	0	5	0	86	2		0	0	0	0	0	2	1	0.999995	20	219	0	85	2								-20.000000	1	1	0	0		1	0	0	0	1.979556	0	0.310000	1.840000	0.283340	0.500000	0.320000	0.740000	0.500000	0.522677	0.500000	0	4.000000e-01	6.300000e-01
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:179587193G>A	ENST00000591111.1	-	75	21594	c.21370C>T	c.(21370-21372)Cga>Tga	p.R7124*	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.R7441*|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	p.R6197*(1)		1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CCATTTAATCGACAAGTGAGT	0.418000																								1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	58	31.894429	0.99979	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.95	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2951	0.82767	0.0:0.0:0.8666:0.1334	.	.	.	.	X	6197	.	ENSP00000343764:R6197X	R	-	1	2	TTN	179295438	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	3.754000	0.55189	1.458000	0.47871	0.650000	0.86243	CGA		TCGA-2J-AABF-01A-31D-A40W-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	42	276	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	42	272	0	83	2								-18.107800	1	1	120830	1	32	1	0	0	0	1.979556	0	0.310000	1.840000	0.283340	0.810000	0.600000	1.000000	1.000000	0.823446	0.810000	0	7.000000e-01	9.400000e-01
PIKFYVE	200576	broad.mit.edu	37	2	209190426	209190426	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:209190426C>T	ENST00000264380.4	+	20	3049	c.2891C>T	c.(2890-2892)cCg>cTg	p.P964L		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	p.P964L(1)		107					ACAGCTTGCCCGGCGGGTCTC	0.502000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264380.4	1	1	hg19	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	6.701	0.498060	0.12762	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.27890	1.64;1.81	6.07	4.22	0.49857	.	0.284775	0.28187	N	0.016268	T	0.23926	0.0579	L	0.56769	1.78	0.52099	D	0.999943	B;B	0.28880	0.226;0.031	B;B	0.17098	0.017;0.006	T	0.05533	-1.0879	10	0.21014	T	0.42	-1.1002	6.4434	0.21863	0.1432:0.6971:0.0:0.1596	.	964;908	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	L	964;540;908	ENSP00000264380:P964L;ENSP00000405736:P908L	ENSP00000264380:P964L	P	+	2	0	PIKFYVE	208898671	0.000000	0.05858	0.381000	0.26106	0.040000	0.13550	0.619000	0.24388	0.830000	0.34757	0.650000	0.86243	CCG		TCGA-2J-AABF-01A-31D-A40W-08	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	1	0	1	28	254	0	72	0	7.965796e-01	0	29	0	72	2		0	0	0	0	0	2	1	1.000000	27	245	0	71	2								-2.415705	0	1	121410	4	39	1	0	0	0	1.979556	0	0.310000	1.840000	0.283340	0.610000	0.420000	0.840000	0.620000	0.628554	0.610000	0	5.100000e-01	7.300000e-01
SPEG	10290	broad.mit.edu	37	2	220312960	220312960	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:220312960G>A	ENST00000312358.7	+	4	1212	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S256S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus			100		Renal(207;0.0183)			AGTCCAAGTCGTCCGGGCCCT	0.716000																								0							SO:0001819	synonymous_variant			ENST00000312358.7	1	1	hg19	CCDS42824.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	1	0	0	11	109	0	32	1	2.957465e-01	4	7	0	32	2		0	0	0	0	0	2	1	0.998525	11	108	0	32	2								-16.766610	1	1	0	0		1	0	0	0	1.979556	0	0.310000	1.840000	0.283340	0.570000	0.310000	0.920000	0.560000	0.597056	0.570000	0	4.300000e-01	7.500000e-01
TMEM17	200728	broad.mit.edu	37	2	62728450	62728450	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:62728450T>G	ENST00000335390.5	-	4	702	c.491A>C	c.(490-492)aAa>aCa	p.K164T		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17			9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		ATTAACCATTTTCCTTAAGGT	0.428000																								0							SO:0001583	missense			ENST00000335390.5	0	1	hg19	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	T	9.813	1.183817	0.21870	.	.	ENSG00000186889	ENST00000335390	T	0.46451	0.87	5.6	4.46	0.54185	.	0.339048	0.37577	N	0.002032	T	0.23532	0.0569	N	0.17082	0.46	0.31589	N	0.654104	B	0.10296	0.003	B	0.15052	0.012	T	0.22556	-1.0213	10	0.15066	T	0.55	-10.2028	8.2015	0.31428	0.0:0.1897:0.0:0.8103	.	164	Q86X19	TMM17_HUMAN	T	164	ENSP00000335094:K164T	ENSP00000335094:K164T	K	-	2	0	TMEM17	62581954	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.866000	0.39489	0.988000	0.38734	0.528000	0.53228	AAA		TCGA-2J-AABF-01A-31D-A40W-08	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	0	0	0	8	336	0	106	0	9.857974e-02	0	20	0	106	2		0	0	0	0	0	2	1	0.989324	8	334	0	102	2								-3.468187	1	1	0	0		1	0	0	0	1.870656	1	0.310000	1.840000	0.241842	0.140000	0.060000	0.250000	0.140000	0.151342	0.140000	0	9.000000e-02	2.000000e-01
CTNNA2	1496	broad.mit.edu	37	2	80136879	80136879	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:80136879G>A	ENST00000402739.4	+	6	1017	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	CTNNA2_ENST00000496558.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V372M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V338M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V338M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	p.V338M(2)		78					GTGCAACGCCGTGCGGCAGGC	0.597000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000402739.4	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	33	5.255998	0.95336	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.6	5.6	0.85130	.	0.077367	0.51477	D	0.000082	T	0.70386	0.3218	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.965;0.94	T	0.74819	-0.3535	10	0.87932	D	0	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	338;338;338	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	338;338;372;338;338;338	ENSP00000418191:V338M;ENSP00000419295:V338M;ENSP00000355398:V372M;ENSP00000384638:V338M;ENSP00000444675:V338M;ENSP00000441705:V338M	ENSP00000355398:V372M	V	+	1	0	CTNNA2	79990390	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	9.803000	0.99136	2.652000	0.90054	0.591000	0.81541	GTG		TCGA-2J-AABF-01A-31D-A40W-08	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	1	0	1	20	156	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	0.999996	20	154	0	59	2								-20.000000	1	1	0	0		1	0	0	0	1.870656	1	0.310000	1.840000	0.241842	0.660000	0.420000	0.950000	0.660000	0.679359	0.660000	0	5.300000e-01	8.100000e-01
FAHD2B	151313	broad.mit.edu	37	2	97751522	97751522	+	Missense_Mutation	SNP	C	C	T	rs138523783		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr2:97751522C>T	ENST00000414820.1	-	6	869	c.599G>A	c.(598-600)cGc>cAc	p.R200H	FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.R200H|FAHD2B_ENST00000440566.2_Missense_Mutation_p.R200H			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B			12					TTTCCCATTGCGTCTTGTTAG	0.597000																								0							SO:0001583	missense			ENST00000414820.1	1	1	hg19	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004787	0.35320	0.0	5.81E-4	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.94758	-3.51;-3.51;-3.51	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.122834	0.49916	N	0.000132	D	0.94666	0.8280	M	0.62088	1.915	0.41529	D	0.988442	D	0.89917	1.0	D	0.74348	0.983	D	0.91640	0.5326	10	0.59425	D	0.04	.	3.009	0.06038	0.0:0.6463:0.0:0.3537	.	200	Q6P2I3	FAH2B_HUMAN	H	200	ENSP00000410470:R200H;ENSP00000272610:R200H;ENSP00000444599:R200H	ENSP00000272610:R200H	R	-	2	0	FAHD2B	97115249	0.695000	0.27747	0.493000	0.27502	0.135000	0.20990	2.196000	0.42686	0.587000	0.29643	0.306000	0.20318	CGC		TCGA-2J-AABF-01A-31D-A40W-08	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	1	0	0	23	321	0	80	0	5.777530e-01	1	27	0	80	2		0	0	0	0	0	2	1	0.999999	22	312	0	79	2								-6.539878	1	1	121394	54	49	1	0	3	3	2.172384	1	0.310000	1.840000	0.342607	0.480000	0.300000	1.000000	0.450000	0.578885	0.480000	0	3.800000e-01	1
DRD3	1814	broad.mit.edu	37	3	113850098	113850098	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:113850098C>T	ENST00000460779.1	-	7	1162	c.873G>A	c.(871-873)gcG>gcA	p.A291A	DRD3_ENST00000467632.1_Silent_p.A291A|DRD3_ENST00000295881.7_Intron|DRD3_ENST00000383673.2_Silent_p.A291A	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3			36				Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAGCTTGGGCGCTATGGTGG	0.542000																								0							SO:0001819	synonymous_variant			ENST00000460779.1	1	1	hg19	CCDS2978.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	1	0	0	46	580	0	216		0	0	0	0	216	2		0	0	0	0	0	2	1	1.000000	46	568	0	215	2								-9.892280	1	1	121412	10	47	1	0	1	1	1.944136	0	0.310000	1.840000	0.259498	0.430000	0.320000	0.570000	0.440000	0.447865	0.430000	0	3.700000e-01	5.100000e-01
SLC41A3	54946	broad.mit.edu	37	3	125734346	125734346	+	Missense_Mutation	SNP	C	C	T	rs138712564		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:125734346C>T	ENST00000315891.6	-	8	1199	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	SLC41A3_ENST00000383598.2_Missense_Mutation_p.V295I|SLC41A3_ENST00000508835.1_Missense_Mutation_p.V204I|SLC41A3_ENST00000360370.4_Missense_Mutation_p.V321I|SLC41A3_ENST00000346785.5_Missense_Mutation_p.V285I	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3			18					CCACATATGACGGGGGTAAAT	0.517000																								0							SO:0001583	missense			ENST00000315891.6	1	1	hg19	CCDS33843.1	.	.	.	.	.	.	.	.	.	.	C	5.067	0.198048	0.09652	0.0	3.49E-4	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	4.54	-0.338	0.12651	MgtE magnesium transporter, integral membrane (1);	0.251067	0.38326	N	0.001725	T	0.13884	0.0336	N	0.13327	0.33	0.40992	D	0.984868	B;B;B;B;B	0.30851	0.012;0.113;0.074;0.297;0.021	B;B;B;B;B	0.28305	0.021;0.062;0.036;0.088;0.023	T	0.10451	-1.0629	10	0.30854	T	0.27	-0.0495	7.2713	0.26258	0.0:0.4217:0.0:0.5783	.	204;321;285;321;295	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	I	321;285;295;312;321;204	ENSP00000353533:V321I;ENSP00000264471:V285I;ENSP00000373092:V295I;ENSP00000326070:V321I;ENSP00000427409:V204I	ENSP00000326070:V321I	V	-	1	0	SLC41A3	127217036	0.137000	0.22531	0.054000	0.19295	0.012000	0.07955	0.556000	0.23438	-0.177000	0.10690	-0.218000	0.12543	GTC		TCGA-2J-AABF-01A-31D-A40W-08	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	1	0	0	27	294	0	84	1	9.966904e-01	10	89	0	84	2		0	0	0	0	0	2	1	1.000000	27	291	0	80	2								-3.318789	1	1	121412	6	41	1	0	1	1	1.944136	0	0.310000	1.840000	0.259498	0.500000	0.340000	0.700000	0.500000	0.516512	0.500000	0	4.100000e-01	6.100000e-01
COL6A6	131873	broad.mit.edu	37	3	130287020	130287020	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:130287020G>A	ENST00000358511.6	+	5	2004	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R658Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	p.R658L(1)		134					GGACCAGATCGGGTGCAAATT	0.413000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000358511.6	1	1	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	3.023	-0.201344	0.06219	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	5.53	3.16	0.36331	von Willebrand factor, type A (3);	0.395727	0.21379	N	0.075504	T	0.58736	0.2143	L	0.28014	0.82	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.35450	-0.9788	10	0.12103	T	0.63	.	6.1506	0.20310	0.4135:0.0:0.5865:0.0	.	658	A6NMZ7	CO6A6_HUMAN	Q	658	ENSP00000351310:R658Q;ENSP00000399236:R658Q	ENSP00000351310:R658Q	R	+	2	0	COL6A6	131769710	0.000000	0.05858	0.128000	0.21923	0.040000	0.13550	0.092000	0.15066	1.096000	0.41439	0.655000	0.94253	CGG		TCGA-2J-AABF-01A-31D-A40W-08	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	1	0	0	37	455	0	155	0	6.060606e-03	0	2	0	155	2		0	0	0	0	0	2	1	1.000000	37	449	0	152	2								-2.458455	0	1	120836	2	37	1	0	1	1	1.944136	0	0.310000	1.840000	0.259498	0.450000	0.320000	0.600000	0.450000	0.459754	0.450000	0	3.800000e-01	5.300000e-01
SLC25A38	54977	broad.mit.edu	37	3	39431021	39431021	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr3:39431021C>T	ENST00000273158.4	+	2	482	c.105C>T	c.(103-105)tcC>tcT	p.S35S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38			11					TGTGTGGCTCCATCAGTGGGA	0.512000																								0							SO:0001819	synonymous_variant			ENST00000273158.4	1	1	hg19	CCDS2685.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	0	0	0	19	307	1	137	1	7.263826e-01	7	77	1	137	4		0	0	0	0	0	2	1	0.999989	19	299	0	134	2								-2.878425	1	1	0	0		1	0	1	1	1.921193	0	0.310000	1.840000	0.253287	0.340000	0.210000	0.510000	0.340000	0.360236	0.340000	0	2.700000e-01	4.300000e-01
GABRB1	2560	broad.mit.edu	37	4	47427807	47427807	+	Silent	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:47427807C>T	ENST00000295454.3	+	9	1489	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	GABRB1_ENST00000538619.1_Silent_p.S329S	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1			44				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTATGACAGCGCCAGCATCC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000295454.3	1	1	hg19	CCDS3474.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1	1	0	1	22	184	0	55		0	0	0	0	55	2		0	0	0	0	0	2	1	0.999999	22	180	0	54	2								-20.000000	1	1	0	0		1	0	1	1	1.941065	0	0.310000	1.840000	0.261953	0.640000	0.420000	0.910000	0.630000	0.657425	0.640000	0	5.200000e-01	7.800000e-01
CRMP1	1400	broad.mit.edu	37	4	5830236	5830236	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr4:5830236G>A	ENST00000397890.2	-	12	1655	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CRMP1_ENST00000512574.1_Missense_Mutation_p.R479C|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R595C	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1			36					ATTTTGACGCGCTGGTACAGG	0.592000																								0							SO:0001583	missense			ENST00000397890.2	1	1	hg19	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378726	0.82682	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.87029	-2.2;-2.13;-2.13	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	0.99;0.995;0.99;1.0	P;P;P;D	0.97110	0.839;0.636;0.807;1.0	D	0.95043	0.8180	10	0.72032	D	0.01	-32.1342	15.9993	0.80280	0.0:0.0:1.0:0.0	.	595;479;481;418	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	C	595;481;481;479	ENSP00000321606:R595C;ENSP00000380987:R481C;ENSP00000425742:R479C	ENSP00000321606:R595C	R	-	1	0	CRMP1	5881137	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.184000	0.94893	2.245000	0.73994	0.561000	0.74099	CGC		TCGA-2J-AABF-01A-31D-A40W-08	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	1	0	0	7	116	0	24	0	8.392235e-01	0	58	0	24	2		0	0	0	0	0	2	1	0.978014	7	111	0	24	2								-10.583090	1	1	0	0		1	0	1	1	1.941065	0	0.310000	1.840000	0.261953	0.350000	0.160000	0.640000	0.330000	0.377244	0.350000	0	2.400000e-01	5.000000e-01
APC	324	broad.mit.edu	37	5	112175046	112175046	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr5:112175046C>A	ENST00000457016.1	+	16	4135	c.3755C>A	c.(3754-3756)tCt>tAt	p.S1252Y	APC_ENST00000508376.2_Missense_Mutation_p.S1252Y|APC_ENST00000257430.4_Missense_Mutation_p.S1252Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	p.K1192fs*3(1)|p.?(1)		3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)			TGCAAAGTTTCTTCTATTAAC	0.393000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		E, M, O	2	Unknown(1)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	ENST00000457016.1	1	1	hg19	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503801	0.26949	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.90444	-2.49;-2.49;-2.49;-2.67	5.83	5.83	0.93111	.	0.153741	0.45606	D	0.000360	T	0.80954	0.4723	N	0.08118	0	0.22803	N	0.998713	B;B	0.13145	0.0;0.007	B;B	0.08055	0.0;0.003	T	0.62515	-0.6838	9	.	.	.	-1.3032	16.4069	0.83677	0.132:0.868:0.0:0.0	.	1254;1252	Q4LE70;P25054	.;APC_HUMAN	Y	1252	ENSP00000413133:S1252Y;ENSP00000257430:S1252Y;ENSP00000427089:S1252Y;ENSP00000423828:S1252Y	.	S	+	2	0	APC	112202945	0.994000	0.37717	0.997000	0.53966	0.982000	0.71751	5.284000	0.65627	2.756000	0.94617	0.655000	0.94253	TCT		TCGA-2J-AABF-01A-31D-A40W-08	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	1	0	0	13	183	1	74	0	3.385358e-01	1	16	1	74	2		0	0	0	0	0	2	1	0.731619	13	183	1	73	11								-17.055120	1	1	0	0		1	0	1	1	1.925290	0	0.310000	1.840000	0.266815	0.400000	0.230000	0.640000	0.400000	0.423317	0.400000	0	3.100000e-01	5.300000e-01
TRDN	10345	broad.mit.edu	37	6	123869741	123869741	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr6:123869741C>A	ENST00000398178.3	-	3	270	c.249G>T	c.(247-249)aaG>aaT	p.K83N	TRDN_ENST00000542443.1_Missense_Mutation_p.K83N|TRDN_ENST00000546248.1_Missense_Mutation_p.K83N|TRDN_ENST00000334268.4_Missense_Mutation_p.K83N	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin			41					CTGAGCCAATCTTGGCAATAG	0.333000																								0							SO:0001583	missense			ENST00000398178.3	0	1	hg19	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855645	0.51376	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248;ENST00000542443	T;T;T;T	0.68331	1.24;1.24;1.24;-0.32	5.29	4.42	0.53409	Aspartyl beta-hydroxylase/Triadin domain (1);	0.207799	0.41294	D	0.000910	T	0.76076	0.3937	M	0.83012	2.62	0.32517	N	0.536805	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;0.993	D;D;D;D;D	0.83275	0.996;0.996;0.911;0.911;0.934	T	0.79431	-0.1806	10	0.72032	D	0.01	-3.8587	12.1537	0.54064	0.0:0.9204:0.0:0.0796	.	83;83;83;83;83	F5H6E3;F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;.;TRDN_HUMAN	N	83	ENSP00000381240:K83N;ENSP00000333984:K83N;ENSP00000439281:K83N;ENSP00000437684:K83N	ENSP00000333984:K83N	K	-	3	2	TRDN	123911440	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.278000	0.43426	1.216000	0.43427	0.655000	0.94253	AAG		TCGA-2J-AABF-01A-31D-A40W-08	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	3	34	0	10		0	0	0	0	10	2		0	0	0	0	0	2	1	0.803878	3	33	0	10	2								-8.175540	1	1	0	0		1	0	1	1	2.049205	0	0.310000	1.840000	0.308929	0.570000	0.170000	1.000000	1.000000	0.601287	0.570000	0	3.300000e-01	8.900000e-01
CADPS2	93664	broad.mit.edu	37	7	122377080	122377080	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:122377080C>A	ENST00000449022.2	-	2	401	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	CADPS2_ENST00000313070.7_Missense_Mutation_p.A128S|CADPS2_ENST00000334010.7_Missense_Mutation_p.A128S|CADPS2_ENST00000412584.2_Missense_Mutation_p.A128S	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2			43					TTGAGGAAGGCCTGGAACCGT	0.383000																								0							SO:0001583	missense			ENST00000449022.2	1	1	hg19	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542347	0.27563	.	.	ENSG00000081803	ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.64	5.64	0.86602	.	0.176929	0.49305	D	0.000151	T	0.60573	0.2279	N	0.05259	-0.085	0.53688	D	0.99997	B;B	0.25351	0.003;0.124	B;B	0.17979	0.014;0.02	T	0.59456	-0.7451	10	0.13853	T	0.58	-8.3102	13.6306	0.62193	0.1547:0.8453:0.0:0.0	.	128;128	Q86UW7-2;Q86UW7	.;CAPS2_HUMAN	S	128;128;128;95;128;128	ENSP00000325581:A128S;ENSP00000333940:A128S;ENSP00000400401:A128S;ENSP00000398481:A128S	ENSP00000325581:A128S	A	-	1	0	CADPS2	122164316	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.736000	0.55052	2.631000	0.89168	0.585000	0.79938	GCC		TCGA-2J-AABF-01A-31D-A40W-08	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	1	0	0	13	177	0	47	1	5.592725e-01	5	21	0	47	2		0	0	0	0	0	2	1	0.999546	13	174	0	45	2								-6.009493	1	1	0	0		1	1	2	3	2.107667	0	0.310000	1.840000	0.320532	0.470000	0.260000	1.000000	0.440000	0.515091	0.470000	0	3.500000e-01	6.500000e-01
TBX20	57057	broad.mit.edu	37	7	35293131	35293131	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:35293131G>A	ENST00000408931.3	-	1	627	c.101C>T	c.(100-102)gCg>gTg	p.A34V		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20			18					GTTCTCCGTCGCCTCCTTCTC	0.647000																								0							SO:0001583	missense			ENST00000408931.3	0	1	hg19	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501515	0.44455	.	.	ENSG00000164532	ENST00000408931	D	0.87809	-2.3	5.35	4.39	0.52855	.	0.505372	0.22454	N	0.059858	T	0.72399	0.3455	N	0.08118	0	0.09310	N	0.999998	B	0.27971	0.196	B	0.15052	0.012	T	0.60286	-0.7293	10	0.30078	T	0.28	.	12.1051	0.53807	0.0936:0.0:0.9064:0.0	.	34	Q9UMR3	TBX20_HUMAN	V	34	ENSP00000386170:A34V	ENSP00000386170:A34V	A	-	2	0	TBX20	35259656	0.532000	0.26346	0.486000	0.27416	0.955000	0.61496	3.672000	0.54583	1.099000	0.41499	0.462000	0.41574	GCG		TCGA-2J-AABF-01A-31D-A40W-08	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	1	0	0	6	86	0	32		0	0	0	0	32	2		0	0	0	0	0	2	1	0.964269	6	84	0	32	2								-10.285540	1	1	0	0		1	1	2	3	2.104019	0	0.310000	1.840000	0.320532	0.470000	0.190000	1.000000	0.420000	0.518589	0.470000	0	3.100000e-01	7.300000e-01
SDK1	221935	broad.mit.edu	37	7	4185464	4185464	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:4185464G>A	ENST00000404826.2	+	29	4478	c.4339G>A	c.(4339-4341)Gca>Aca	p.A1447T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1447T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1			153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)			CCCGGAGTCCGCATACATCTT	0.662000																								0							SO:0001583	missense			ENST00000404826.2	0	1	hg19	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217704	0.39201	0.0	2.33E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56103	0.48;0.48	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.31327	0.0793	N	0.04090	-0.28	0.27196	N	0.960291	P;P	0.52692	0.526;0.955	B;P	0.45343	0.138;0.477	T	0.11227	-1.0596	10	0.20519	T	0.43	.	10.7984	0.46474	0.0865:0.0:0.9135:0.0	.	1447;1447	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	T	1447	ENSP00000385899:A1447T;ENSP00000374182:A1447T	ENSP00000374182:A1447T	A	+	1	0	SDK1	4151990	0.978000	0.34361	0.687000	0.30102	0.880000	0.50808	3.755000	0.55197	2.296000	0.77279	0.462000	0.41574	GCA		TCGA-2J-AABF-01A-31D-A40W-08	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	0	0	5	257	1	52	0	1.005877e-02	0	18	1	52	3		0	0	0	0	0	2	0	0.005992	5	251	1	51	17								-2.472564	0	1	121412	22	45	1	1	2	3	2.131617	0	0.310000	1.840000	0.324655	0.140000	0.040000	1.000000	0.130000	0.243644	0.140000	0	8.000000e-02	2.600000e-01
OGDH	4967	broad.mit.edu	37	7	44747283	44747283	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:44747283G>A	ENST00000222673.5	+	22	2941	c.2899G>A	c.(2899-2901)Gac>Aac	p.D967N	OGDH_ENST00000449767.1_Missense_Mutation_p.D963N|OGDH_ENST00000444676.1_Missense_Mutation_p.D982N|OGDH_ENST00000439616.2_Missense_Mutation_p.D817N|OGDH_ENST00000543843.1_Missense_Mutation_p.D918N|OGDH_ENST00000447398.1_Missense_Mutation_p.D978N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)			36				Valproic Acid(DB00313)	AGGCTACTATGACTACGTGAA	0.602000																								0							SO:0001583	missense			ENST00000222673.5	0	1	hg19	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163705	0.78226	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72	5.46	5.46	0.80206	.	0.045701	0.85682	D	0.000000	T	0.11495	0.0280	N	0.17278	0.47	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.007;0.001;0.002;0.002	B;B;B;B;B	0.12837	0.003;0.003;0.003;0.008;0.003	T	0.11494	-1.0585	10	0.42905	T	0.14	-41.9842	18.9009	0.92442	0.0:0.0:1.0:0.0	.	762;817;963;978;967	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	N	817;963;978;982;967;918	ENSP00000398576:D817N;ENSP00000392878:D963N;ENSP00000388183:D978N;ENSP00000414662:D982N;ENSP00000222673:D967N;ENSP00000443821:D918N	ENSP00000222673:D967N	D	+	1	0	OGDH	44713808	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.889000	0.87307	2.560000	0.86352	0.491000	0.48974	GAC		TCGA-2J-AABF-01A-31D-A40W-08	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1	0	0	0	7	319	0	76	1	9.872171e-01	8	354	0	76	2		0	0	0	0	0	2	1	0.980471	7	317	0	76	2								-7.418161	1	1	0	0		1	1	2	3	2.104019	0	0.310000	1.840000	0.320532	0.150000	0.060000	1.000000	0.140000	0.226818	0.150000	0	1.000000e-01	2.400000e-01
WBSCR17	64409	broad.mit.edu	37	7	71130456	71130456	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:71130456C>T	ENST00000333538.5	+	7	1775	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17			100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)			CCACATTGAGCGGAAGAAGAA	0.488000																								0							SO:0001583	missense			ENST00000333538.5	0	1	hg19	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033947	0.75504	.	.	ENSG00000185274	ENST00000333538	T	0.69175	-0.38	5.85	1.83	0.25207	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	H	0.98936	4.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92381	0.5913	10	0.87932	D	0	.	15.3575	0.74440	0.6063:0.3937:0.0:0.0	.	381	Q6IS24	GLTL3_HUMAN	W	381	ENSP00000329654:R381W	ENSP00000329654:R381W	R	+	1	2	WBSCR17	70768392	0.877000	0.30153	1.000000	0.80357	0.987000	0.75469	1.218000	0.32467	0.362000	0.24319	-0.261000	0.10672	CGG		TCGA-2J-AABF-01A-31D-A40W-08	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	0	0	0	7	364	0	74	0	9.916344e-03	0	7	0	74	2		0	0	0	0	0	2	1	0.980279	7	361	0	72	2								-3.100343	1	1	121412	4	37	1	1	2	3	2.104019	0	0.310000	1.840000	0.320532	0.130000	0.050000	1.000000	0.130000	0.209315	0.130000	0	8.000000e-02	2.100000e-01
MLXIPL	51085	broad.mit.edu	37	7	73010006	73010006	+	Silent	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:73010006G>A	ENST00000313375.3	-	15	2318	c.2271C>T	c.(2269-2271)taC>taT	p.Y757Y	MLXIPL_ENST00000429400.2_Silent_p.Y738Y|MLXIPL_ENST00000354613.1_Silent_p.Y736Y|MLXIPL_ENST00000414749.2_Silent_p.Y755Y|MLXIPL_ENST00000395189.1_Silent_p.Y664Y|MLXIPL_ENST00000434326.1_Silent_p.Y663Y	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like			13		Lung NSC(55;0.0659)|all_lung(88;0.152)			GGGTTCGGACGTAGTCATCAA	0.632000																								0							SO:0001819	synonymous_variant			ENST00000313375.3	1	1	hg19	CCDS5553.1																																																																																				TCGA-2J-AABF-01A-31D-A40W-08	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	1	0	0	11	144	0	33	0	9.421377e-01	0	67	0	33	2		0	0	0	0	0	2	1	0.998357	11	141	0	32	2								-15.307080	1	1	121398	2	37	1	1	2	3	2.104019	0	0.310000	1.840000	0.320532	0.490000	0.250000	1.000000	0.460000	0.534831	0.490000	0	3.600000e-01	6.900000e-01
HEATR2	54919	broad.mit.edu	37	7	794231	794231	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:794231C>T	ENST00000297440.6	+	5	1050	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R344C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2			22		Ovarian(82;0.0112)			TCCAGAGCGCCGCCCTGTGCT	0.547000																								0							SO:0001583	missense			ENST00000297440.6	1	1	hg19	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.25|17.25	3.342614|3.342614	0.61073|0.61073	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000437419;ENST00000440747|ENST00000297440;ENST00000313147;ENST00000537862	.|T;T	.|0.73789	.|-0.78;-0.77	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.130641	.|0.52532	.|D	.|0.000078	D|D	0.86581|0.86581	0.5967|0.5967	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.986;0.994	D|D	0.88188|0.88188	0.2875|0.2875	5|10	.|0.87932	.|D	.|0	-46.9262|-46.9262	14.3636|14.3636	0.66789|0.66789	0.1481:0.8519:0.0:0.0|0.1481:0.8519:0.0:0.0	.|.	.|344;90	.|Q86Y56;F5H8D4	.|HEAT2_HUMAN;.	L|C	116;145|344;344;90	.|ENSP00000297440:R344C;ENSP00000321451:R344C	.|ENSP00000297440:R344C	P|R	+|+	2|1	0|0	HEATR2|HEATR2	760757|760757	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.044000|0.044000	0.14063|0.14063	5.258000|5.258000	0.65479|0.65479	2.603000|2.603000	0.88011|0.88011	0.561000|0.561000	0.74099|0.74099	CCG|CGC		TCGA-2J-AABF-01A-31D-A40W-08	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	1	0	0	61	656	0	187	0	6.637700e-01	0	26	0	187	2		0	0	0	0	0	2	1	1.000000	61	645	0	183	2								-14.755810	1	0	0	0		1	1	2	3	2.131617	0	0.310000	1.840000	0.324655	0.570000	0.430000	1.000000	0.560000	0.615106	0.570000	0	4.900000e-01	6.800000e-01
PEG10	23089	broad.mit.edu	37	7	94293374	94293374	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr7:94293374G>A	ENST00000482108.1	+	2	985	c.506G>A	c.(505-507)cGc>cAc	p.R169H	PEG10_ENST00000488574.1_Missense_Mutation_p.R169H	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10			21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)		GTTGCCAAACGCAAGATCAGA	0.542000																								0							SO:0001583	missense			ENST00000482108.1	1	1	hg19	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064561	0.55432	.	.	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.14766	2.48;2.48	4.05	4.05	0.47172	Retrotransposon gag protein (1);	.	.	.	.	T	0.26195	0.0639	L	0.35854	1.095	0.25927	N	0.983049	D;D	0.89917	0.999;1.0	D;D	0.81914	0.971;0.995	T	0.03287	-1.1052	9	0.48119	T	0.1	.	11.9358	0.52872	0.0:0.0:1.0:0.0	.	245;169	B4DSP0;Q86TG7	.;PEG10_HUMAN	H	169	ENSP00000417587:R169H;ENSP00000418944:R169H	ENSP00000417587:R169H	R	+	2	0	PEG10	94131310	0.999000	0.42202	1.000000	0.80357	0.917000	0.54804	2.457000	0.45005	2.276000	0.75962	0.555000	0.69702	CGC		TCGA-2J-AABF-01A-31D-A40W-08	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	0	0	1	103	495	1	149	0	6.833320e-01	1	12	1	149	2		0	0	0	0	0	2	1	1.000000	102	487	1	148	15								-20.000000	1	1	0	0		1	1	2	3	2.094140	0	0.310000	1.840000	0.318451	0.990000	0.930000	1.000000	1.000000	0.995948	0.990000	1	9.900000e-01	1
PABPC1	26986	broad.mit.edu	37	8	101730449	101730449	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:101730449T>A	ENST00000318607.5	-	2	1381	c.253A>T	c.(253-255)Atg>Ttg	p.M85L	PABPC1_ENST00000522387.1_Missense_Mutation_p.M85L|PABPC1_ENST00000519596.1_5'Flank|PABPC1_ENST00000519004.1_Missense_Mutation_p.M40L	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1			40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		TGAGACCACATGATGCGTACT	0.398000																								0							SO:0001583	missense			ENST00000318607.5	0	1	hg19	CCDS6289.1	.	.	.	.	.	.	.	.	.	.	T	32	5.114517	0.94339	.	.	ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387;ENST00000518196;ENST00000521865;ENST00000520142	T;T;T;T;T;T	0.05580	3.42;3.42;3.42;3.42;3.42;3.42	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	N	0.25245	0.725	0.58432	D	0.999995	P;P;P	0.42584	0.784;0.784;0.784	B;B;P	0.49953	0.188;0.387;0.627	T	0.09509	-1.0671	10	0.72032	D	0.01	.	15.6618	0.77193	0.0:0.0:0.0:1.0	.	85;85;85	E7ERJ7;B3KT93;P11940	.;.;PABP1_HUMAN	L	85;85;40;85;40;85;85	ENSP00000313007:M85L;ENSP00000429594:M40L;ENSP00000429395:M85L;ENSP00000430159:M40L;ENSP00000429119:M85L;ENSP00000430012:M85L	ENSP00000313007:M85L	M	-	1	0	PABPC1	101799625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.020000	0.88740	2.167000	0.68274	0.528000	0.53228	ATG		TCGA-2J-AABF-01A-31D-A40W-08	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	0	0	4	182	0	48	0	9.994862e-01	0	985	0	48	2		0	0	0	0	0	2	1	0.888714	4	180	0	47	2								-3.399790	1	1	0	0		1	1	2	3	2.071426	0	0.310000	1.840000	0.314252	0.150000	0.050000	1.000000	0.140000	0.194506	0.150000	0	9.000000e-02	2.500000e-01
CHRNA2	1135	broad.mit.edu	37	8	27320780	27320780	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:27320780G>A	ENST00000520933.2	-	5	1333	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R379C|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R394C			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)			23		Ovarian(32;2.61e-05)		Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	AGCTTCAGGCGTAGGGGGTGG	0.667000																								0							SO:0001583	missense			ENST00000520933.2	1	1	hg19	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.162980	0.09287	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.71222	-0.55;-0.55;-0.55	5.03	3.25	0.37280	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.230070	0.05296	N	0.522105	T	0.68933	0.3055	M	0.76433	2.335	0.09310	N	1	P;B	0.48089	0.905;0.108	B;B	0.36719	0.231;0.03	T	0.58205	-0.7677	10	0.56958	D	0.05	.	8.6291	0.33908	0.0:0.7597:0.1553:0.085	.	379;394	B4DK19;Q15822	.;ACHA2_HUMAN	C	394;394;379	ENSP00000385026:R394C;ENSP00000429616:R394C;ENSP00000240132:R379C	ENSP00000240132:R379C	R	-	1	0	CHRNA2	27376697	0.001000	0.12720	0.002000	0.10522	0.000000	0.00434	1.600000	0.36762	0.720000	0.32209	-1.021000	0.02439	CGC		TCGA-2J-AABF-01A-31D-A40W-08	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4	1	0	0	12	197	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.999072	11	193	0	49	2								-15.002360	1	1	0	0		1	1	2	3	2.071426	0	0.310000	1.840000	0.314252	0.380000	0.200000	1.000000	0.370000	0.413193	0.380000	0	2.800000e-01	5.100000e-01
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2			85	Breast(64;0.137)		Epithelial(68;0.105)	Dalfampridine(DB06637)	CTGCCCAGGACGCGCCTGGGG	0.537000																								0							SO:0001583	missense			ENST00000523207.1	1	1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004318	0.93287	.	.	ENSG00000182674	ENST00000523207	D	0.82081	-1.57	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	.	.	.	.	D	0.93877	0.8041	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94789	0.7960	9	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	59	Q92953	KCNB2_HUMAN	M	59	ENSP00000430846:T59M	ENSP00000430846:T59M	T	+	2	0	KCNB2	73642699	1.000000	0.71417	0.950000	0.38849	0.986000	0.74619	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	ACG		TCGA-2J-AABF-01A-31D-A40W-08	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	1	0	0	18	344	0	76	0	3.658075e-02	0	6	0	76	2		0	0	0	0	0	2	1	0.999978	18	333	0	73	2								-2.970177	1	1	0	0		1	1	2	3	2.071426	0	0.310000	1.840000	0.314252	0.320000	0.190000	1.000000	0.320000	0.355901	0.320000	0	2.500000e-01	4.200000e-01
CNBD1	168975	broad.mit.edu	37	8	88249204	88249204	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr8:88249204A>G	ENST00000518476.1	+	6	686	c.635A>G	c.(634-636)aAc>aGc	p.N212S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1			32					CCTCAAACAAACGTGTATAAA	0.368000																								0							SO:0001583	missense			ENST00000518476.1	1	1	hg19	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	3.275	-0.148197	0.06627	.	.	ENSG00000176571	ENST00000518476	T	0.16743	2.32	4.29	-2.76	0.05896	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	1.950470	0.02259	N	0.067417	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.25502	-1.0130	10	0.12103	T	0.63	0.0587	5.5245	0.16951	0.3422:0.4741:0.1837:0.0	.	212	Q8NA66	CNBD1_HUMAN	S	212	ENSP00000430073:N212S	ENSP00000430073:N212S	N	+	2	0	CNBD1	88318320	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.060000	0.14342	-0.458000	0.07023	0.533000	0.62120	AAC		TCGA-2J-AABF-01A-31D-A40W-08	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	1	0	0	27	334	0	91		0	0	0	0	91	2		0	0	0	0	0	2	1	1.000000	27	328	0	91	2								-8.399606	1	1	0	0		1	1	2	3	2.071426	0	0.310000	1.840000	0.314252	0.490000	0.330000	1.000000	0.490000	0.512170	0.490000	0	4.000000e-01	6.000000e-01
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	GRCh37	CM014695	CDKN2A	M	rs121913388	SO:0001587	stop_gained			ENST00000304494.5	0	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		TCGA-2J-AABF-01A-31D-A40W-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	20	67	0	15	1	9.999877e-01	44	28	0	15	2	1	9.999999e-01	21	91	0	186	2	1	0.999979	15	53	0	11	2								-3.409088	1	1	0	0		1	0	1	1	1.763780	1	0.310000	1.840000	0.190853	0.950000	0.700000	1.000000	1.000000	0.928024	0.950000	1	8.300000e-01	1
PHKA2	5256	broad.mit.edu	37	X	18961884	18961884	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:18961884G>A	ENST00000379942.4	-	7	1326	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)			61	Hepatocellular(33;0.183)				CGTCCTCCATGGGCTCCAAAA	0.458000																								0							SO:0001583	missense			ENST00000379942.4	0	1	hg19	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579135	0.46006	.	.	ENSG00000044446	ENST00000379942	D	0.88975	-2.45	5.43	4.57	0.56435	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.141328	0.64402	N	0.000005	D	0.86973	0.6062	M	0.72894	2.215	0.53005	D	0.999968	B	0.02656	0.0	B	0.10450	0.005	T	0.82733	-0.0311	10	0.49607	T	0.09	-6.0265	9.6509	0.39897	0.0781:0.1382:0.7837:0.0	.	221	P46019	KPB2_HUMAN	Y	221	ENSP00000369274:H221Y	ENSP00000369274:H221Y	H	-	1	0	PHKA2	18871805	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.915000	0.56409	1.067000	0.40740	0.600000	0.82982	CAT		TCGA-2J-AABF-01A-31D-A40W-08	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	0	0	0	9	355	0	79	0	1.059574e-01	0	20	0	79	2		0	0	0	0	0	2	1	0.993914	9	349	0	78	2								-2.376369	0	1	0	0		1	0	1	1			0.310000	1.840000	0.310000	0.070000	0.030000	0.140000	0.080000	0.087591	0.070000	0	5.000000e-02	1.100000e-01
ZNF182	7569	broad.mit.edu	37	X	47835701	47835701	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:47835701C>G	ENST00000396965.1	-	7	2135	c.1785G>C	c.(1783-1785)gaG>gaC	p.E595D	ZNF182_ENST00000376943.3_Missense_Mutation_p.E576D|ZNF182_ENST00000305127.6_Missense_Mutation_p.E595D	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	p.E595D(1)|p.E576D(1)		22					TATAGGGTTTCTCTCCAGTAT	0.443000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000396965.1	1	1	hg19	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395798	0.42512	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.26810	1.71;1.71;1.71	4.86	4.86	0.63082	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40247	0.1109	L	0.48935	1.535	0.34356	D	0.690386	D;P;D	0.60575	0.987;0.861;0.988	P;P;P	0.59595	0.857;0.795;0.86	T	0.53648	-0.8409	9	0.66056	D	0.02	.	14.5199	0.67844	0.0:1.0:0.0:0.0	.	575;576;595	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	D	576;595;595	ENSP00000366142:E576D;ENSP00000380165:E595D;ENSP00000306351:E595D	ENSP00000306351:E595D	E	-	3	2	ZNF182	47720645	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.087000	0.30865	2.397000	0.81536	0.544000	0.68410	GAG		TCGA-2J-AABF-01A-31D-A40W-08	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	1	0	0	31	192	0	66	1	8.278654e-01	4	18	0	66	2		0	0	0	0	0	2	1	1.000000	30	188	0	64	2								-15.484660	1	1	0	0		1	0	1	1			0.310000	1.840000	0.310000	0.440000	0.310000	0.600000	0.440000	0.454222	0.440000	0	3.700000e-01	5.300000e-01
BRWD3	254065	broad.mit.edu	37	X	79938009	79938009	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABF-01A-31D-A40W-08	TCGA-2J-AABF-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f03eccd-d979-440b-bd2c-ff2a02b5f9d4	1d5d3ab0-eee9-413f-9cbd-d17e8173ca0a	g.chrX:79938009C>T	ENST00000373275.4	-	38	4568	c.4352G>A	c.(4351-4353)cGt>cAt	p.R1451H	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3			87					GCTTCTTAGACGTTTTCTGTA	0.368000																								0							SO:0001583	missense			ENST00000373275.4	1	1	hg19	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.031405	0.93575	.	.	ENSG00000165288	ENST00000373275	T	0.57595	0.39	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.38175	1.15	0.51012	D	0.999905	D	0.76494	0.999	D	0.76071	0.987	T	0.61549	-0.7040	9	.	.	.	-11.5158	17.1252	0.86712	0.0:1.0:0.0:0.0	.	1451	Q6RI45	BRWD3_HUMAN	H	1451	ENSP00000362372:R1451H	.	R	-	2	0	BRWD3	79824665	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.904000	0.75708	2.223000	0.72356	0.415000	0.27848	CGT		TCGA-2J-AABF-01A-31D-A40W-08	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	0	0	0	12	393	0	80	1	3.625337e-01	2	38	0	80	2		0	0	0	0	0	2	1	0.999005	12	383	0	80	2								-3.427475	1	1	0	0		1	0	1	1			0.310000	1.840000	0.310000	0.090000	0.040000	0.160000	0.100000	0.102463	0.090000	0	6.000000e-02	1.300000e-01
