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	UniProt_AApos	UniProt_Region	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	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	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
PTPRB	0	broad.mit.edu	hg19	12	71016404	71016404	+	Silent	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr12:71016404C>T	ENST00000334414.6	-	3	518	c.474G>A	c.(472-474)tcG>tcA	p.S158S	PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000550358.1_Silent_p.S158S|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.	angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		TGCTCCTCACCGAAACTTCTG	0.418	0	31.0	33.0	32.0	12	71016404	1843	4086	5929	SO:0001819	synonymous_variant	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB	2169617	Standard	NM_001109754	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.474G>A	12.37:g.71016404C>T		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	ENST00000550358.1	37																																																																																				PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1		16.976138	0	6	10	0	0	1	0		5	17.000342	4	0.555556
TCTN3	26123	broad.mit.edu	hg19	10	97443174	97443174	+	Silent	SNP	A	A	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr10:97443174A>G	ENST00000371209.5	-	10	1307	c.1308T>C	c.(1306-1308)caT>caC	p.H436H	TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000371217.5_Intron|TCTN3_ENST00000430368.2_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3	0		apoptosis	integral to membrane		breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)	CCTCATTATAATGAACAAAAA	0.353	0									SO:0001819	synonymous_variant	AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977	"""Tectonic proteins"""	24519	protein-coding gene	gene with protein product		613847	"""chromosome 10 open reading frame 61"""	C10orf61	12975309	Standard	NM_015631	Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371209.5:c.1308T>C	10.37:g.97443174A>G		A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	ENST00000371209.5	37																																																																																				TCTN3-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000320230.2		6.348139	0	4	15	0	0	1	0	NM_015631	2	6.495673	4	0.333333
PCDHGA2	0	broad.mit.edu	hg19	5	140719342	140719342	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:140719342C>A	ENST00000394576.2	+	1	804	c.804C>A	c.(802-804)gaC>gaA	p.D268E	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1									breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CCGCCACTGACGCAGATGAGG	0.507	2	86.0	94.0	91.0	5	140719342	2203	4300	6503	SO:0001583	missense	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853	"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289			10380929	Standard	NM_018915	Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.804C>A	5.37:g.140719342C>A	ENSP00000378077:p.Asp268Glu	Q52LL6|Q9Y5D5	ENST00000394576.2	37	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535002	0.27475	.	.	ENSG00000081853	ENST00000394576	T	0.61392	0.11	5.17	-2.35	0.06684	Cadherin (5);Cadherin-like (1);	0.000000	0.43260	U	0.000585	D	0.84097	0.5397	H	0.99705	4.715	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	T	0.77429	-0.2591	10	0.87932	D	0	.	12.8677	0.57948	0.0:0.3663:0.0:0.6337	.	268;268	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	E	268	ENSP00000378077:D268E	ENSP00000378077:D268E	D	+	3	2	PCDHGA2	140699526	0.000000	0.05858	0.927000	0.36925	0.020000	0.10135	-2.278000	0.01159	-0.459000	0.07013	-0.218000	0.12543	GAC	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1		144.572938	1	-5	128	0	1.41504e-22	1	1.47935e-22	NM_018915	45	144.582367	47	0.489130
COBL	23242	broad.mit.edu	hg19	7	51095952	51095952	+	Silent	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr7:51095952T>C	ENST00000395542.2	-	12	3271	c.3087A>G	c.(3085-3087)ggA>ggG	p.G1029G	COBL_ENST00000265136.7_Silent_p.G947G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	947					NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)				TAGGAGGGGCTCCCACTGCCA	0.572	0	71.0	66.0	67.0	7	51095952	2203	4300	6503	SO:0001819	synonymous_variant	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078		22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""			Standard	NM_015198	Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2841A>G	7.37:g.51095952T>C		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	ENST00000265136.7	37	CCDS34637.1																																																																																			COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1		45.451620	0	-8	45	0	0	1	0	NM_015198	14	45.459726	13	0.518519
PDS5B	23047	broad.mit.edu	hg19	13	33226028	33226028	+	Missense_Mutation	SNP	G	G	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr13:33226028G>C	ENST00000315596.10	+	3	382	c.196G>C	c.(196-198)Gat>Cat	p.D66H		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66		cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	TCTTGCTTCAGATTTTTTTCT	0.373	0	147.0	142.0	143.0	13	33226028	1846	4098	5944	SO:0001583	missense	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642		20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN	8812419, 10215036	Standard	NM_015032	Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.196G>C	13.37:g.33226028G>C	ENSP00000313851:p.Asp66His	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	ENST00000315596.10	37	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623932	0.87460	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	L	0.41824	1.3	0.80722	D	1	D;D;D	0.69078	0.997;0.973;0.973	D;P;D	0.69654	0.965;0.807;0.919	T	0.66728	-0.5850	9	0.29301	T	0.29	-19.6766	19.961	0.97250	0.0:0.0:1.0:0.0	.	66;66;66	Q9NTI5;Q9NTI5-3;Q9NTI5-4	PDS5B_HUMAN;.;.	H	66	.	ENSP00000313851:D66H	D	+	1	0	PDS5B	32124028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.655000	0.98512	2.783000	0.95769	0.655000	0.94253	GAT	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3		165.368679	0	16	190	0	0	1	0	NM_015032	52	167.111695	85	0.379562
LRRC4B	94030	broad.mit.edu	hg19	19	51021330	51021330	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:51021330C>T	ENST00000599957.1	-	3	1837	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	547			cell junction|integral to membrane|presynaptic membrane		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	CTCCGTGGGCCGCGAGGAGCG	0.687	0	23.0	25.0	25.0	19	51021330	2049	4187	6236	SO:0001583	missense	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409	"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4	11441184	Standard	NM_001080457	Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1640G>A	19.37:g.51021330C>T	ENSP00000471502:p.Arg547Gln	Q3ZCQ4|Q58F20	ENST00000599957.1	37	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269678	0.80469	.	.	ENSG00000131409	ENST00000389201	T	0.60797	0.16	3.27	3.27	0.37495	.	0.000000	0.64402	U	0.000010	T	0.55305	0.1912	L	0.46614	1.455	0.41152	D	0.986037	D	0.53885	0.963	P	0.48114	0.567	T	0.59568	-0.7430	10	0.46703	T	0.11	.	12.3875	0.55340	0.0:1.0:0.0:0.0	.	547	Q9NT99	LRC4B_HUMAN	Q	547	ENSP00000373853:R547Q	ENSP00000373853:R547Q	R	-	2	0	LRRC4B	55713142	0.326000	0.24669	1.000000	0.80357	0.894000	0.52154	4.449000	0.60034	1.823000	0.53134	0.462000	0.41574	CGG	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1		26.168968	0	-2	19	0	0	1	0	NM_001080457	9	26.711439	17	0.346154
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209		activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	GTGGGGGGCCAGCGGTCGGAG	0.612	82	104.0	89.0	94.0	19	3118942	2203	4300	6503	SO:0001583	missense	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256		4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2	1302014, 23802516	Standard	NM_002067	Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu	O15109|Q14350|Q6IB00	ENST00000078429.4	37	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		70.822005	0	-3	78	0	0	1	0	NM_002067	23	71.079042	31	0.425926
NFATC2	4773	broad.mit.edu	hg19	20	50140605	50140605	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr20:50140605C>T	ENST00000371564.3	-	2	394	c.175G>A	c.(175-177)Gca>Aca	p.A59T	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	59		B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)				TCGGGGTATGCGGGTCCGGAG	0.592	2	49.0	57.0	54.0	20	50140605	2203	4300	6503	SO:0001583	missense	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096	"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490			8202141	Standard	NM_012340	Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.175G>A	20.37:g.50140605C>T	ENSP00000379330:p.Ala59Thr	B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	ENST00000396009.3	37	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883442	0.33255	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.14893	2.47;2.47;2.48	5.31	0.654	0.17833	.	1.029610	0.07687	N	0.938074	T	0.10165	0.0249	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.17268	0.016;0.016;0.016;0.021	B;B;B;B	0.09377	0.003;0.002;0.004;0.003	T	0.39522	-0.9610	10	0.23302	T	0.38	-0.1472	5.0295	0.14402	0.1161:0.4371:0.3411:0.1057	.	39;39;59;59	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	T	59;59;39	ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T	ENSP00000360619:A59T	A	-	1	0	NFATC2	49574012	0.772000	0.28567	0.980000	0.43619	0.986000	0.74619	-0.193000	0.09573	0.184000	0.20083	0.313000	0.20887	GCA	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2		-2.910972	0	2	67	0	0	1	0	NM_012340	3	6.932369	46	0.061224
MIR518A1	0	broad.mit.edu	hg19	19	54233129	54233129	+	RNA	SNP	T	T	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:54233129T>G	ENST00000385252.1	+	0	38					NR_030209.1																GCGCTTTCTGTTGGCTAAAAG	0.423	0	79.0	76.0	77.0	19	54233129	1568	3582	5150					19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803	"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1		Standard	NR_030210	Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54233129T>G			ENST00000385068.1	37																																																																																				MIR518A1-201	KNOWN	basic	miRNA	miRNA			192.559978	0	4	156	0	0	1	0	NR_030210	58	192.765311	48	0.547170
NLRP11	204801	broad.mit.edu	hg19	19	56307611	56307611	+	Missense_Mutation	SNP	A	A	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:56307611A>G	ENST00000443188.1	-	8	2887	c.2177T>C	c.(2176-2178)aTg>aCg	p.M726T	NLRP11_ENST00000589093.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T|NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	726				ATP binding	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)	ATCACATTTCATCAAGCTGTA	0.428	0	78.0	75.0	76.0	19	56307611	2203	4300	6503	SO:0001583	missense	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873	"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11	12563287, 12019269	Standard	NM_145007	Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2177T>C	19.37:g.56307611A>G	ENSP00000466285:p.Met726Thr	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	A	0.199	-1.046153	0.01997	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.11712	2.75;2.75	2.38	-2.16	0.07080	.	.	.	.	.	T	0.04497	0.0123	N	0.16790	0.44	0.09310	N	1	B;B	0.19073	0.033;0.019	B;B	0.24541	0.024;0.054	T	0.45352	-0.9267	9	0.13470	T	0.59	.	0.1628	0.00105	0.3169:0.2206:0.2466:0.216	.	726;672	P59045;P59045-2	NAL11_HUMAN;.	T	726;672	ENSP00000409898:M726T;ENSP00000353251:M672T	ENSP00000353251:M672T	M	-	2	0	NLRP11	60999423	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.003000	0.01463	-0.657000	0.05373	0.533000	0.62120	ATG	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1		105.972880	0	-11	100	0	0	1	0	NM_145007	33	105.985635	35	0.485294
PRSS16	10279	broad.mit.edu	hg19	6	27222478	27222478	+	Missense_Mutation	SNP	C	C	G			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr6:27222478C>G	ENST00000230582.3	+	10	1172	c.1157C>G	c.(1156-1158)aCc>aGc	p.T386S	PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	386		protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26					ACAGATGTCACCTGTGAGAAT	0.512	0	118.0	111.0	113.0	6	27222478	2203	4300	6503	SO:0001583	missense	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812	"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169			10527559	Standard	NM_005865	Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1157C>G	6.37:g.27222478C>G	ENSP00000230582:p.Thr386Ser	O75416	ENST00000230582.3	37	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.031250|4.031250	0.75504|0.75504	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582	.|T;T	.|0.16073	.|2.37;2.37	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.287924	.|0.38326	.|N	.|0.001740	T|T	0.18130|0.18130	0.0435|0.0435	L|L	0.56340|0.56340	1.77|1.77	0.38406|0.38406	D|D	0.945797|0.945797	.|D;P	.|0.76494	.|0.999;0.95	.|P;P	.|0.61397	.|0.888;0.634	T|T	0.03268|0.03268	-1.1054|-1.1054	5|10	.|0.11794	.|T	.|0.64	-35.2509|-35.2509	13.307|13.307	0.60357|0.60357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|129;386	.|F2Z2N5;Q9NQE7	.|.;TSSP_HUMAN	Q|S	138;164|129;386	.|ENSP00000404349:T129S;ENSP00000230582:T386S	.|ENSP00000230582:T386S	H|T	+|+	3|2	2|0	PRSS16|PRSS16	27330457|27330457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	3.527000|3.527000	0.53517|0.53517	2.607000|2.607000	0.88179|0.88179	0.557000|0.557000	0.71058|0.71058	CAC|ACC	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		87.448015	0	18	110	0	0	1	0		29	91.854307	74	0.281553
ZNF229	7772	broad.mit.edu	hg19	19	44933957	44933957	+	Silent	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:44933957G>A	ENST00000291187.4	-	6	1303	c.981C>T	c.(979-981)aaC>aaT	p.N327N	ZNF229_ENST00000588931.1_Silent_p.N333N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	333		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)			GTATGTGCGTGTTCTGTCTGA	0.502	0	65.0	63.0	63.0	19	44933957	1946	4155	6101	SO:0001819	synonymous_variant	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318	"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product						Standard	XM_006723372	Approved		uc002oze.1	Q9UJW7		ENST00000291187.4:c.981C>T	19.37:g.44933957G>A		B2RWN3|Q59FV2|Q86WL9	ENST00000291187.4	37																																																																																				ZNF229-001	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000460831.1		70.123836	0	-7	51	0	0	1	0	NM_014518	23	70.206213	19	0.547619
PRUNE2	158471	broad.mit.edu	hg19	9	79322557	79322557	+	Missense_Mutation	SNP	C	C	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr9:79322557C>A	ENST00000428286.1	-	8	4756	c.3556G>T	c.(3556-3558)Gca>Tca	p.A1186S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1545S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1545		apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16					GGACTTGATGCACTTGAATGA	0.448	0	68.0	59.0	62.0	9	79322557	1568	3582	5150	SO:0001583	missense	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772		25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367	16288218	Standard	NM_015225	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4633G>T	9.37:g.79322557C>A	ENSP00000365908:p.Ala1545Ser	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.563667|3.563667	0.65651|0.65651	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55588|.	0.51;0.51|.	5.91|5.91	5.02|5.02	0.67125|0.67125	.|.	0.399646|.	0.21499|.	N|.	0.073550|.	T|T	0.69700|0.69700	0.3140|0.3140	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.48738|.	0.588|.	T|T	0.68977|0.68977	-0.5267|-0.5267	10|5	0.72032|.	D|.	0.01|.	-3.8885|-3.8885	13.3784|13.3784	0.60752|0.60752	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	1545|.	Q8WUY3|.	PRUN2_HUMAN|.	S|F	1545;1186;1544|866	ENSP00000365908:A1545S;ENSP00000397425:A1186S|.	ENSP00000365908:A1545S|.	A|C	-|-	1|2	0|0	PRUNE2|PRUNE2	78512377|78512377	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.732000|0.732000	0.41865|0.41865	0.967000|0.967000	0.29344|0.29344	1.512000|1.512000	0.48834|0.48834	0.655000|0.655000	0.94253|0.94253	GCA|TGC	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		3.807471	1	2	42	0	0.115264	1	0.115264	NM_138818	3	7.105870	21	0.125000
GRIA1	0	broad.mit.edu	hg19	5	153174266	153174266	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr5:153174266G>A	ENST00000285900.5	+	14	2699	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	786		synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		CGACAAGGGCGAGTGCGGCAG	0.448	0	58.0	60.0	60.0	5	153174266	2203	4300	6503	SO:0001583	missense		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511	"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1	1652753, 1319477	Standard	NM_000827	Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000518783.1:c.2386G>A	5.37:g.153174266G>A	ENSP00000428994:p.Glu796Lys	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	ENST00000518783.1	37	CCDS58987.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206268	0.79127	.	.	ENSG00000155511	ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.17	5.17	0.71159	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.38733	1.17	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.995	D;P;P	0.83275	0.996;0.872;0.784	T	0.47736	-0.9094	10	0.45353	T	0.12	.	18.0139	0.89232	0.0:0.0:1.0:0.0	.	796;706;786	E7ESV8;B7Z3F6;P42261	.;.;GRIA1_HUMAN	K	786;706;719;717;796	ENSP00000285900:E786K;ENSP00000427920:E706K;ENSP00000427864:E719K;ENSP00000442108:E717K;ENSP00000428994:E796K	ENSP00000285900:E786K	E	+	1	0	GRIA1	153154459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.585000	0.98223	2.574000	0.86865	0.650000	0.86243	GAG	GRIA1-007	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373902.3		32.079818	0	-24	32	0	0	1	0		11	32.427412	18	0.379310
MEFV	4210	broad.mit.edu	hg19	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.	inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					CAAATCTTTGCGGGCCATCAG	0.517	0	158.0	170.0	166.0	16	3293588	2197	4300	6497	SO:0001819	synonymous_variant	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313	"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF	9288094	Standard	NM_000243	Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000339854.4:c.1359G>A	16.37:g.3293588C>T		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	ENST00000339854.4	37																																																																																				MEFV-010	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000398510.1		-46.116794	0	-7	227	0	0	1	0	NM_000243	5	7.722011	208	0.023474
KIR3DL2	3812	broad.mit.edu	hg19	19	55363677	55363677	+	Missense_Mutation	SNP	C	C	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr19:55363677C>T	ENST00000326321.3	+	3	328	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	99	Ig-like C2-type 1.	cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)	TCGGGGTTCACGCCCACACTC	0.592	0	65.0	59.0	61.0	19	55363677	2162	4125	6287	SO:0001583	missense	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403	"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947			7716543, 8662091	Standard	NM_006737	Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.295C>T	19.37:g.55363677C>T	ENSP00000325525:p.Arg99Cys	Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	ENST00000326321.3	37	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	c	7.544	0.661200	0.14645	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00753	5.74;5.74	1.62	-3.23	0.05109	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.044860	0.02291	U	0.070352	T	0.00724	0.0024	L	0.35854	1.095	0.09310	N	1	P;B	0.49090	0.919;0.006	B;B	0.35899	0.213;0.009	T	0.45175	-0.9279	10	0.72032	D	0.01	.	3.3555	0.07168	0.0:0.428:0.2244:0.3475	.	99;99	Q95366;P43630	.;KI3L2_HUMAN	C	99	ENSP00000325525:R99C;ENSP00000270442:R99C	ENSP00000270442:R99C	R	+	1	0	KIR3DL2	60055489	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.084000	0.01363	-1.094000	0.03054	0.184000	0.17185	CGC	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		83.191360	0	15	83	0	0	1	0		28	83.360764	35	0.444444
CHCHD10	400916	broad.mit.edu	hg19	22	24108202	24108202	+	Silent	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr22:24108202G>A	ENST00000484558.2	-	4	989	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR			Q8WYQ3	CHC10_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 10	141			mitochondrion		large_intestine(2)|lung(1)	3					CTTCAGGGCAGGGAGCTCAGA	0.657	0	33.0	31.0	32.0	22	24108202	2203	4300	6503	SO:0001819	synonymous_variant	AB050774	CCDS13815.1	22q11.23	2011-03-28	2008-06-13	2008-06-13	ENSG00000250479	ENSG00000250479	"""Coiled-coil-helix-coiled-coil-helix domain containing"""	15559	protein-coding gene	gene with protein product		615903	"""chromosome 22 open reading frame 16"""	C22orf16		Standard	XM_006724241	Approved	N27C7-4	uc002zxw.3	Q8WYQ3	OTTHUMG00000150736	ENST00000484558.2:c.421C>T	22.37:g.24108202G>A		A8K0J5	ENST00000484558.2	37	CCDS13815.1	.	.	.	.	.	.	.	.	.	.	G	9.291	1.050523	0.19827	.	.	ENSG00000250479	ENST00000521886	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	T	0.64549	0.2608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63051	-0.6723	4	.	.	.	-18.9032	13.2546	0.60070	0.0:0.0:1.0:0.0	.	.	.	.	L	89	.	.	P	-	2	0	CHCHD10	22438202	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	1.565000	0.36386	2.400000	0.81607	0.485000	0.47835	CCT	CHCHD10-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000319870.2		2.301463	0	-3	22	0	0	1	0	NM_213720	3	7.097725	27	0.100000
SULT6B1	391365	broad.mit.edu	hg19	2	37398631	37398631	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:37398631G>A	ENST00000535679.1	-	6	726	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	243			cytoplasm	sulfotransferase activity	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)			GACTTCGCACGCATGGCTTGG	0.483	0	145.0	138.0	141.0	2	37398631	2203	4300	6503	SO:0001583	missense	AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068	"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product					14676822	Standard	XM_005264307	Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000407963.1:c.613C>T	2.37:g.37398631G>A	ENSP00000384950:p.Arg205Cys	B2RTS7	ENST00000407963.1	37	CCDS33182.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319512	0.41096	.	.	ENSG00000138068	ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963	D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92	4.71	0.231	0.15377	Sulfotransferase domain (1);	0.346678	0.27851	N	0.017600	D	0.86789	0.6017	M	0.73962	2.25	0.39269	D	0.964353	D	0.57571	0.98	P	0.49953	0.627	D	0.88133	0.2839	10	0.87932	D	0	.	13.4678	0.61266	0.0:0.0:0.2675:0.7325	.	243	Q6IMI4	ST6B1_HUMAN	C	243;139;205;205	ENSP00000444081:R243C;ENSP00000368444:R139C;ENSP00000260637:R205C;ENSP00000384950:R205C	ENSP00000260637:R205C	R	-	1	0	SULT6B1	37252135	0.139000	0.22563	0.857000	0.33713	0.230000	0.25150	0.294000	0.19047	0.181000	0.19994	-0.293000	0.09583	CGT	SULT6B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325505.1		-18.998931	0	14	130	0	0	1	0	NM_001032377	4	7.223372	108	0.035714
HDLBP	3069	broad.mit.edu	hg19	2	242169044	242169044	+	Missense_Mutation	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr2:242169044T>C	ENST00000391975.1	-	28	4006	c.3779A>G	c.(3778-3780)aAg>aGg	p.K1260R	HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1260		cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	AGGGAGGGTCTTGGGAGCCAC	0.557	0	99.0	101.0	100.0	2	242169044	2203	4300	6503	SO:0001583	missense		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677		4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL	1318310, 8390966	Standard	NM_005336	Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3779A>G	2.37:g.242169044T>C	ENSP00000375836:p.Lys1260Arg	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	ENST00000391975.1	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	T	9.248	1.040131	0.19669	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.19394	2.16;2.16;2.16;2.15	5.75	5.75	0.90469	.	0.091629	0.85682	N	0.000000	T	0.18551	0.0445	L	0.40543	1.245	0.53688	D	0.999979	B;B	0.26635	0.155;0.007	B;B	0.24269	0.052;0.004	T	0.05632	-1.0873	10	0.13108	T	0.6	-43.8366	16.0671	0.80891	0.0:0.0:0.0:1.0	.	1227;1260	E7EM71;Q00341	.;VIGLN_HUMAN	R	1260;1260;1260;1227	ENSP00000375836:K1260R;ENSP00000375837:K1260R;ENSP00000312042:K1260R;ENSP00000399139:K1227R	ENSP00000312042:K1260R	K	-	2	0	HDLBP	241817717	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.151000	0.71806	2.192000	0.70111	0.460000	0.39030	AAG	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5		0.960431	0	-1	50	0	0	1	0	NM_203346	4	9.693637	45	0.081633
EIF1AX	1964	broad.mit.edu	hg19	X	20152122	20152122	+	Missense_Mutation	SNP	A	A	T			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chrX:20152122A>T	ENST00000379607.5	-	4	411	c.208T>A	c.(208-210)Tgg>Agg	p.W70R	EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	70	S1-like.		cytosol	translation initiation factor activity	endometrium(2)|lung(1)|ovary(1)|prostate(1)	5					GTATTTATCCAAACCTACAAA	0.323	0	55.0	47.0	49.0	X	20152122	2203	4300	6503	SO:0001583	missense	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674		3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	8106356, 9381176	Standard	NM_001412	Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.208T>A	X.37:g.20152122A>T	ENSP00000368927:p.Trp70Arg	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	ENST00000379607.5	37	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.303181	0.81136	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.52057	0.68;0.68	5.64	5.64	0.86602	Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.76442	0.3988	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.83363	0.0003	9	0.87932	D	0	-3.1686	13.4291	0.61044	1.0:0.0:0.0:0.0	.	70	P47813	IF1AX_HUMAN	R	70;42	ENSP00000368927:W70R;ENSP00000368912:W42R	ENSP00000368912:W42R	W	-	1	0	EIF1AX	20062043	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.481000	0.90437	1.888000	0.54679	0.486000	0.48141	TGG	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		143.627102	0	-58	68	0	0	1	0		41	151.294154	4	0.911111
FAT1	2195	broad.mit.edu	hg19	4	187542653	187542653	+	Missense_Mutation	SNP	G	G	A			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr4:187542653G>A	ENST00000441802.2	-	10	5296	c.5087C>T	c.(5086-5088)tCa>tTa	p.S1696L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1696	Cadherin 15.	actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228					ATACACCACTGATGATTGACT	0.388	0	116.0	112.0	114.0	4	187542653	1865	4116	5981	SO:0001583	missense	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857	"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT	8586420	Standard	XM_005262834	Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5087C>T	4.37:g.187542653G>A	ENSP00000406229:p.Ser1696Leu		ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325464	0.81580	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02631	4.22	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	L	0.33093	0.98	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	T	0.44651	-0.9314	10	0.30854	T	0.27	.	18.8314	0.92141	0.0:0.0:1.0:0.0	.	1696	Q14517	FAT1_HUMAN	L	1696;1698	ENSP00000406229:S1696L	ENSP00000260147:S1698L	S	-	2	0	FAT1	187779647	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.601000	0.98297	2.751000	0.94390	0.650000	0.86243	TCA	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		-5.324288	0	-5	79	0	0	1	0	NM_005245	3	6.453752	53	0.053571
ZNF839	55778	ucsc.edu	hg19	14	102802138	102802138	+	Missense_Mutation	SNP	T	T	C			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9																										AGTTCTGGTCTGTGTTCCCAG	0.398	0	87.0	81.0	83.0	14	102802138	1841	4087	5928	SO:0001583	missense	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976		20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131		Standard	NM_018335	Approved		uc010awk.2	A8K0R7		ENST00000442396.2:c.1622T>C	14.37:g.102802138T>C	ENSP00000399863:p.Leu541Pro	B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	ENST00000442396.2	37	CCDS45164.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.157787	0.38119	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436	T;T	0.19532	2.14;2.15	5.15	1.71	0.24356	.	0.780131	0.11778	N	0.530467	T	0.10937	0.0267	N	0.16130	0.375	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.0;0.001;0.0	T	0.27054	-1.0085	10	0.45353	T	0.12	.	4.0925	0.09976	0.1593:0.3954:0.0:0.4453	.	541;425;304;425	A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7	.;.;.;ZN839_HUMAN	P	541;425;93	ENSP00000399863:L541P;ENSP00000262236:L425P	ENSP00000262236:L425P	L	+	2	0	ZNF839	101871891	0.000000	0.05858	0.003000	0.11579	0.216000	0.24613	0.481000	0.22260	0.522000	0.28464	-0.508000	0.04489	CTG	ZNF839-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415560.1				18	50					NM_018335	4		26	
UNC79	57578	broad.mit.edu	hg19	14	94089125	94089139	+	In_Frame_Del	DEL	AGAGAGAGTACCTCG	AGAGAGAGTACCTCG	-			TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr14:94089125_94089139delAGAGAGAGTACCTCG	ENST00000553484.1	+	31	5766_5780	c.5612_5626delAGAGAGAGTACCTCG	c.(5611-5628)cagagagagtacctcgac>cac	p.1871_1876QREYLD>H	UNC79_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H|UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>H|UNC79_ENST00000393151.2_In_Frame_Del_p.1849_1854QREYLD>H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1849			integral to membrane		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118					AGTGCTATCCAGAGAGAGTACCTCGACATCTCCTT	0.460	2									SO:0001651	inframe_deletion	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958		19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409	20714347, 21040849	Standard	NM_020818	Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000256339.4:c.5015_5029delAGAGAGAGTACCTCG	14.37:g.94089125_94089139delAGAGAGAGTACCTCG	ENSP00000256339:p.Gln1672_Asp1677delinsHis	B5MDL6|Q6ZUT7	ENST00000256339.4	37	CCDS9911.2																																																																																			UNC79-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074288.2	.	.		-13	45					XM_028395	8		23	0.26
BAGE2	85319	broad.mit.edu	hg19	21	11085920	11085922	+	RNA	DEL	ACC	ACC	-	rs36147384		TCGA-V3-A9ZY-01A-11D-A39W-08	TCGA-V3-A9ZY-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c1306ea-e47d-41ca-b7c0-f85b470f1751	6da09e74-73cc-43d7-9a35-50633c69b8a9	g.chr21:11085920_11085922delACC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2										Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	catcaccactaccaccaccacca	0.547	0											AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172		15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""				12461691	Standard	NM_182482	Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085929_11085931delACC		A8K925|Q08ER0	ENST00000470054.1	37																																																																																				BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	.	.		2	7					NM_182482	2		4	0.33
