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
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	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		69.827011	0	-19	62	0	0	1	0	NM_002067	23	69.975965	29	0.442308
PHF3	23469	broad.mit.edu	hg19	6	64423006	64423006	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr6:64423006C>A	ENST00000262043.3	+	16	5862	c.5522C>A	c.(5521-5523)cCc>cAc	p.P1841H	PHF3_ENST00000393387.1_Missense_Mutation_p.P1841H			Q92576	PHF3_HUMAN	PHD finger protein 3	1841	Pro-rich.	multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		CCATTACTTCCCCCTCCAGGC	0.517	0	134.0	141.0	139.0	6	64423006	2203	4300	6503	SO:0001583	missense	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482	"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789			11856869	Standard	XM_005248701	Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5522C>A	6.37:g.64423006C>A	ENSP00000262043:p.Pro1841His	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421969	0.43020	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.47528	0.84;0.84	5.97	5.97	0.96955	.	0.000000	0.39341	N	0.001398	T	0.47507	0.1449	L	0.27053	0.805	0.46376	D	0.999014	D	0.76494	0.999	D	0.63488	0.915	T	0.25710	-1.0124	9	.	.	.	-1.3917	20.4388	0.99107	0.0:1.0:0.0:0.0	.	1841	Q92576	PHF3_HUMAN	H	1841	ENSP00000262043:P1841H;ENSP00000377048:P1841H	.	P	+	2	0	PHF3	64480965	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	4.411000	0.59781	2.836000	0.97738	0.655000	0.94253	CCC	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2		-38.057229	1	-14	139	0	0.014758	1	0.0157419		4	6.345354	171	0.022857
ALCAM	214	broad.mit.edu	hg19	3	105253540	105253540	+	Missense_Mutation	SNP	C	C	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253540C>A	ENST00000306107.5	+	6	1081	c.581C>A	c.(580-582)cCa>cAa	p.P194Q	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.P194Q|ALCAM_ENST00000389927.4_Missense_Mutation_p.P3Q|ALCAM_ENST00000486979.2_Missense_Mutation_p.P143Q	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	194	Ig-like V-type 2.	cell adhesion|signal transduction	integral to membrane	receptor binding	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28					GAAATGGACCCAGTGACTCAG	0.418	0	137.0	134.0	135.0	3	105253540	2203	4300	6503	SO:0001583	missense	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""		7760007	Standard	NM_001627	Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.581C>A	3.37:g.105253540C>A	ENSP00000305988:p.Pro194Gln	B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330491	0.41297	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.77358	1.05;1.05;1.05;-1.09	5.84	4.96	0.65561	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324116	0.37577	N	0.002021	T	0.72309	0.3444	M	0.64997	1.995	0.20074	N	0.999935	B;B;B	0.17268	0.021;0.003;0.003	B;B;B	0.13407	0.008;0.009;0.009	T	0.58792	-0.7574	10	0.23302	T	0.38	-4.2975	10.8305	0.46656	0.2436:0.6243:0.1321:0.0	.	3;194;194	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	Q	194;194;143;3	ENSP00000305988:P194Q;ENSP00000419236:P194Q;ENSP00000418213:P143Q;ENSP00000374577:P3Q	ENSP00000305988:P194Q	P	+	2	0	ALCAM	106736230	0.155000	0.22806	0.990000	0.47175	0.979000	0.70002	0.068000	0.14531	1.455000	0.47813	-0.188000	0.12872	CCA	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1		-31.641035	1	-16	127	0	2.56e-06	1	2.92571e-06	NM_001627	4	6.666349	150	0.025974
RPL36AL	6166	broad.mit.edu	hg19	14	50085633	50085633	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr14:50085633T>C	ENST00000298289.6	-	2	349	c.190A>G	c.(190-192)Aag>Gag	p.K64E		NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	64		translation	ribosome	structural constituent of ribosome			all_epithelial(31;0.0021)|Breast(41;0.0124)				ACAATCTTCTTTGTGGTCTTA	0.483	0	125.0	118.0	121.0	14	50085633	2203	4300	6503	SO:0001583	missense	BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502	"""L ribosomal proteins"""	10346	protein-coding gene	gene with protein product		180469	"""ribosomal protein L36a"""	RPL36A	1577483	Standard	NM_001001	Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.190A>G	14.37:g.50085633T>C	ENSP00000346012:p.Lys64Glu	Q3B7A5	ENST00000298289.6	37	CCDS9689.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458582	0.63401	.	.	ENSG00000165502	ENST00000298289	T	0.68624	-0.34	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.000000	0.64402	U	0.000001	T	0.64659	0.2618	.	.	.	0.39434	D	0.96713	B	0.23442	0.085	B	0.35312	0.2	T	0.68723	-0.5333	9	0.72032	D	0.01	-19.8244	11.9374	0.52880	0.0:0.0:0.0:1.0	.	64	Q969Q0	RL36L_HUMAN	E	64	ENSP00000346012:K64E	ENSP00000346012:K64E	K	-	1	0	RPL36AL	49155383	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	7.442000	0.80503	2.142000	0.66516	0.472000	0.43445	AAG	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276808.2		44.021707	0	-5	151	0	0	1	0		25	64.698262	146	0.146199
EIF1AX	1964	broad.mit.edu	hg19	X	20156735	20156735	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:20156735C>G	ENST00000379607.5	-	2	225	c.22G>C	c.(22-24)Gga>Cga	p.G8R	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	8			cytosol	translation initiation factor activity	endometrium(2)|lung(1)|ovary(1)|prostate(1)	5					TTTTTACCTCCTTTACCTGAT	0.308	0	135.0	126.0	129.0	X	20156735	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.22G>C	X.37:g.20156735C>G	ENSP00000368927:p.Gly8Arg	B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	ENST00000379607.5	37	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599550	0.66332	.	.	ENSG00000173674	ENST00000379607	T	0.47528	0.84	4.94	4.94	0.65067	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.79143	0.4396	H	0.96365	3.81	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	D	0.86825	0.2007	9	0.87932	D	0	-2.5166	17.661	0.88193	0.0:1.0:0.0:0.0	.	8	P47813	IF1AX_HUMAN	R	8	ENSP00000368927:G8R	ENSP00000368927:G8R	G	-	1	0	EIF1AX	20066656	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.237000	0.78164	2.187000	0.69744	0.600000	0.82982	GGA	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		112.326215	0	-23	137	0	0	1	0		35	112.409528	30	0.538462
LONRF3	79836	broad.mit.edu	hg19	X	118109321	118109321	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:118109321C>T	ENST00000304778.7	+	1	741	c.578C>T	c.(577-579)gCg>gTg	p.A193V	LONRF3_ENST00000371628.3_Missense_Mutation_p.A193V	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	193		proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36					CGGCGCTGTGCGCTGTGCGGG	0.677	0	20.0	15.0	17.0	X	118109321	2173	4211	6384	SO:0001583	missense	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556	"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127		Standard	XM_005262476	Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.578C>T	X.37:g.118109321C>T	ENSP00000360690:p.Ala193Val	Q5JPN6|Q8NB00|Q9H647	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801957	0.31869	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	T;T;T	0.17054	2.3;2.3;2.3	4.18	3.31	0.37934	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.373188	0.23949	N	0.042962	T	0.11110	0.0271	L	0.36672	1.1	0.51482	D	0.999924	B;B	0.25235	0.121;0.104	B;B	0.23150	0.008;0.044	T	0.18241	-1.0343	10	0.59425	D	0.04	-11.6896	2.5756	0.04806	0.2791:0.5216:0.0:0.1993	.	193;193	Q496Y0-2;Q496Y0	.;LONF3_HUMAN	V	193	ENSP00000360691:A193V;ENSP00000307732:A193V;ENSP00000360690:A193V	ENSP00000307732:A193V	A	+	2	0	LONRF3	117993349	0.331000	0.24713	0.921000	0.36526	0.867000	0.49689	0.547000	0.23299	2.083000	0.62718	0.529000	0.55759	GCG	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2		0.997774	0	13	36	0	0	1	0	NM_024778	3	7.348335	33	0.083333
UNC13B	10497	broad.mit.edu	hg19	9	35380591	35380591	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr9:35380591G>A	ENST00000378495.3	+	17	2305	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E707K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E695K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	695		excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		AACCATCATTGAGGTTCGGAC	0.493	0	210.0	168.0	182.0	9	35380591	2203	4300	6503	SO:0001583	missense	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722		12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13	9607201	Standard	NM_006377	Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2083G>A	9.37:g.35380591G>A	ENSP00000367756:p.Glu695Lys	Q5VYM8	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420339	0.96111	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.70516	-0.49;-0.49;-0.49	5.4	5.4	0.78164	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.84683	2.71	0.80722	D	1	P;P	0.48407	0.91;0.707	P;B	0.45577	0.486;0.255	D	0.83755	0.0211	10	0.87932	D	0	-18.5232	18.1339	0.89610	0.0:0.0:1.0:0.0	.	695;695	F8W8M9;O14795	.;UN13B_HUMAN	K	707;695;695;282	ENSP00000380006:E707K;ENSP00000367756:E695K;ENSP00000367757:E695K	ENSP00000367756:E695K	E	+	1	0	UNC13B	35370591	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	9.760000	0.98935	2.539000	0.85634	0.591000	0.81541	GAG	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		-11.979436	0	-29	76	0	0	1	0	NM_006377	4	8.007519	86	0.044444
ALCAM	214	broad.mit.edu	hg19	3	105253508	105253508	+	Splice_Site	SNP	G	G	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr3:105253508G>C	ENST00000306107.5	+	6	1049	c.549G>C	c.(547-549)gcG>gcC	p.A183A	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Splice_Site_p.A183A|ALCAM_ENST00000389927.4_5'UTR|ALCAM_ENST00000486979.2_Splice_Site_p.A132A	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	183	Ig-like V-type 2.	cell adhesion|signal transduction	integral to membrane	receptor binding	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28					TTTCTTCAGCGGTGGTCATAA	0.403	0	98.0	98.0	98.0	3	105253508	2203	4300	6503	SO:0001630	splice_region_variant	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""		7760007	Standard	NM_001627	Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.548-1G>C	3.37:g.105253508G>C		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	ENST00000306107.5	37	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640046	0.29157	.	.	ENSG00000170017	ENST00000465413	.	.	.	5.54	0.919	0.19392	.	.	.	.	.	T	0.51787	0.1695	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39901	-0.9591	4	.	.	.	.	5.7564	0.18176	0.1724:0.0:0.279:0.5485	.	.	.	.	R	31	.	.	G	+	1	0	ALCAM	106736198	0.872000	0.30054	0.211000	0.23655	0.977000	0.68977	1.162000	0.31786	0.348000	0.23949	0.650000	0.86243	GGT	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1		-16.422228	0	-25	75	0	0	1	0	NM_001627	4	6.893712	98	0.039216
FAM47A	158724	broad.mit.edu	hg19	X	34148577	34148577	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chrX:34148577T>C	ENST00000346193.3	-	1	1870	c.1819A>G	c.(1819-1821)Aaa>Gaa	p.K607E		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	607					NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97					TCACGGAGTTTTTCCGATGTG	0.438	0	80.0	74.0	76.0	X	34148577	2126	4251	6377	SO:0001583	missense	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448		29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""				12477932	Standard	NM_203408	Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1819A>G	X.37:g.34148577T>C	ENSP00000345029:p.Lys607Glu	A8K8I9|Q8TAA0	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	t	10.13	1.266095	0.23136	.	.	ENSG00000185448	ENST00000346193	T	0.42131	0.98	1.8	-0.229	0.13094	.	.	.	.	.	T	0.35913	0.0948	M	0.68317	2.08	0.09310	N	1	P	0.45827	0.867	P	0.44394	0.448	T	0.26744	-1.0094	9	0.12103	T	0.63	.	4.075	0.09899	0.0:0.5191:0.0:0.4809	.	607	Q5JRC9	FA47A_HUMAN	E	607	ENSP00000345029:K607E	ENSP00000345029:K607E	K	-	1	0	FAM47A	34058498	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.463000	0.06696	-0.148000	0.11234	-0.495000	0.04643	AAA	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1		99.946592	0	-13	70	0	0	1	0	NM_203408	30	99.977616	33	0.476190
UBR4	23352	broad.mit.edu	hg19	1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:19488948G>A	ENST00000375267.2	-	35	4925	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641		interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	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)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	CTCTTCCACCGCCAACTCCTC	0.502	0	133.0	123.0	126.0	1	19488948	2203	4300	6503	SO:0001583	missense	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481	"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1	14702039, 10718198, 16055722	Standard	XM_005245802	Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4922C>T	1.37:g.19488948G>A	ENSP00000364403:p.Ala1641Val	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157780	0.78114	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.08	6.08	0.98989	.	0.056777	0.64402	D	0.000001	T	0.41534	0.1163	N	0.12182	0.205	0.80722	D	1	P	0.43662	0.814	B	0.26693	0.072	T	0.42582	-0.9443	10	0.32370	T	0.25	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1641	Q5T4S7	UBR4_HUMAN	V	1641;1641;1641;1641;351;857	ENSP00000364403:A1641V;ENSP00000364416:A1641V;ENSP00000364365:A1641V;ENSP00000364374:A1641V	ENSP00000364365:A1641V	A	-	2	0	UBR4	19361535	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.583000	0.82559	2.894000	0.99253	0.591000	0.81541	GCG	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		-32.092830	0	-42	128	0	0	1	0	NM_020765	4	6.744308	152	0.025641
RP11-85G18.6	0	broad.mit.edu	hg19	10	27539603	27539603	+	RNA	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr10:27539603G>A	ENST00000574842.1	+	0	872																					GCTGGGCTTGGGAAGATTCTT	0.507	0																																				10.37:g.27539603G>A			ENST00000574842.1	37																																																																																				RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1		-54.153531	0	-30	206	0	0	1	0		7	12.665951	262	0.026022
BEST3	144453	broad.mit.edu	hg19	12	70087541	70087541	+	Missense_Mutation	SNP	C	C	T	rs117505973	by1000genomes	TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:70087541C>T	ENST00000330891.5	-	4	620	c.394G>A	c.(394-396)Gtc>Atc	p.V132I	BEST3_ENST00000331471.4_Missense_Mutation_p.V132I|BEST3_ENST00000266661.4_Missense_Mutation_p.V26I|BEST3_ENST00000553096.1_Missense_Mutation_p.V26I|BEST3_ENST00000393365.1_Missense_Mutation_p.V26I|BEST3_ENST00000551160.1_Missense_Mutation_p.V26I|BEST3_ENST00000476098.1_5'UTR|BEST3_ENST00000533674.1_5'UTR	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	132			chloride channel complex|plasma membrane	chloride channel activity	cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		GTGAGATTGACGTAGCGCATC	0.532	0	143.0	115.0	124.0	12	70087541	2203	4300	6503	SO:0001583	missense	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325	"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3	12032738	Standard	NM_032735	Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.394G>A	12.37:g.70087541C>T	ENSP00000332413:p.Val132Ile	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	ENST00000330891.5	37	CCDS8992.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.37	1.619973	0.28801	0.0	1.16E-4	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000553096;ENST00000552295;ENST00000266661;ENST00000551160;ENST00000393365	D;D;D;D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04;-5.04;-5.04;-5.04	5.88	5.88	0.94601	.	0.056855	0.64402	D	0.000001	D	0.96583	0.8885	N	0.26162	0.8	0.39901	D	0.973901	P;B	0.38535	0.635;0.019	B;B	0.37508	0.252;0.01	D	0.96348	0.9256	10	0.39692	T	0.17	-22.1823	20.2187	0.98312	0.0:1.0:0.0:0.0	.	132;132	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	I	132;132;26;26;26;26;26	ENSP00000329064:V132I;ENSP00000332413:V132I;ENSP00000449548:V26I;ENSP00000447689:V26I;ENSP00000266661:V26I;ENSP00000449377:V26I;ENSP00000377032:V26I	ENSP00000266661:V26I	V	-	1	0	BEST3	68373808	0.993000	0.37304	0.212000	0.23672	0.485000	0.33311	3.083000	0.50136	2.780000	0.95670	0.655000	0.94253	GTC	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		48.962138	0	14	63	0	0	1	0	NM_152439	19	51.965280	49	0.279412
PTCH2	8643	broad.mit.edu	hg19	1	45293304	45293304	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr1:45293304G>A	ENST00000447098.2	-	15	2152	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PTCH2_ENST00000372192.3_Missense_Mutation_p.T714M	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	714		protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)				CACCACATCCGTCAGGGCCAG	0.632	0	70.0	76.0	74.0	1	45293304	2203	4300	6503	SO:0001583	missense	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425		9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""		9811851, 9931336	Standard	NM_003738	Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2141C>T	1.37:g.45293304G>A	ENSP00000361266:p.Thr714Met	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	ENST00000372192.3	37	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696360	0.68386	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.93076	-3.15;-3.16	4.6	4.6	0.57074	.	0.000000	0.40818	N	0.001018	D	0.95236	0.8455	M	0.64080	1.96	0.58432	D	0.999999	P;D	0.76494	0.903;0.999	B;P	0.58970	0.355;0.849	D	0.95336	0.8434	10	0.52906	T	0.07	-12.2555	17.7904	0.88551	0.0:0.0:1.0:0.0	.	714;714	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	M	714	ENSP00000389703:T714M;ENSP00000361266:T714M	ENSP00000361266:T714M	T	-	2	0	PTCH2	45065891	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.152000	0.94680	2.276000	0.75962	0.557000	0.71058	ACG	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4		86.561600	0	-12	68	0	0	1	0	NM_003738	29	87.156302	43	0.402778
CUX2	23316	broad.mit.edu	hg19	12	111748381	111748381	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr12:111748381C>T	ENST00000261726.6	+	15	1949	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55					CAAGCCCTGGCGCAAGCTCAC	0.607	0	55.0	62.0	60.0	12	111748381	2067	4205	6272	SO:0001583	missense	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249	"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2		Standard	NM_015267	Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1795C>T	12.37:g.111748381C>T	ENSP00000261726:p.Arg599Cys	A7E2Y4	ENST00000261726.6	37	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462233	0.63513	.	.	ENSG00000111249	ENST00000261726	T	0.48201	0.82	4.77	3.78	0.43462	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.58418	-0.7640	10	0.72032	D	0.01	-20.2025	13.8411	0.63439	0.255:0.745:0.0:0.0	.	599	O14529	CUX2_HUMAN	C	599	ENSP00000261726:R599C	ENSP00000261726:R599C	R	+	1	0	CUX2	110232764	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.316000	0.51960	2.201000	0.70794	0.313000	0.20887	CGC	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		17.582582	0	6	62	0	0	1	0	NM_015267	12	29.289076	78	0.133333
OR51I2	390064	broad.mit.edu	hg19	11	5475623	5475623	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:5475623C>T	ENST00000341449.2	+	1	986	c.905C>T	c.(904-906)gCc>gTc	p.A302V	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	302		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	ATCCGCCGAGCCATTTTCCGC	0.433	0	127.0	128.0	128.0	11	5475623	2201	4297	6498	SO:0001583	missense	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918	"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product						Standard	NM_001004754	Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.905C>T	11.37:g.5475623C>T	ENSP00000341987:p.Ala302Val	Q6IF81	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335702	0.24253	.	.	ENSG00000187918	ENST00000341449	T	0.44881	0.91	5.3	3.33	0.38152	.	0.403128	0.23506	N	0.047458	T	0.45677	0.1354	M	0.73753	2.245	0.09310	N	1	P	0.48694	0.914	B	0.44044	0.439	T	0.45512	-0.9256	10	0.54805	T	0.06	.	11.4583	0.50195	0.0:0.6204:0.3796:0.0	.	302	Q9H344	O51I2_HUMAN	V	302	ENSP00000341987:A302V	ENSP00000341987:A302V	A	+	2	0	OR51I2	5432199	0.022000	0.18835	0.947000	0.38551	0.074000	0.17049	0.880000	0.28159	1.450000	0.47717	0.563000	0.77884	GCC	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1		-22.276843	0	-48	100	0	0	1	0	NM_001004754	4	7.628769	121	0.032000
TMEM179B	374395	broad.mit.edu	hg19	11	62557411	62557411	+	Silent	SNP	C	C	T	rs149169067		TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:62557411C>T	ENST00000333449.4	+	5	557	c.552C>T	c.(550-552)gtC>gtT	p.V184V	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	184			integral to membrane		kidney(1)|large_intestine(1)|liver(1)|lung(1)	4					TGCTCCAGGTCGTGCAGTGGA	0.557	0	188.0	179.0	182.0	11	62557411	2201	4299	6500	SO:0001819	synonymous_variant	BC051355	CCDS8036.1	11q12.3	2007-11-26			ENSG00000185475	ENSG00000185475		33744	protein-coding gene	gene with protein product						Standard	NM_199337	Approved		uc001nvd.4	Q7Z7N9	OTTHUMG00000167611	ENST00000333449.4:c.552C>T	11.37:g.62557411C>T			ENST00000333449.4	37	CCDS8036.1																																																																																			TMEM179B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395362.2		-13.005977	0	-28	138	0	0	1	0	NM_199337	8	17.184293	137	0.055172
TRIM7	81786	broad.mit.edu	hg19	5	180622297	180622297	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr5:180622297delC	ENST00000393315.1	-	7	1478	c.781delG	c.(781-783)gtgfs	p.V261fs	TRIM7_ENST00000422067.2_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Frame_Shift_Del_p.V287fs|TRIM7_ENST00000361809.3_Frame_Shift_Del_p.V261fs|TRIM7_ENST00000274773.7_Frame_Shift_Del_p.V469fs	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	469			cytoplasm|nucleus	zinc ion binding	NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	ACGGCTCCCACCTCCAGGTCC	0.672	0	41.0	26.0	31.0	5	180622297	2193	4297	6490	SO:0001589	frameshift_variant	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054	"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""		11331580	Standard	NM_203294	Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1405delG	5.37:g.180622297delC	ENSP00000274773:p.Val469fs	A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	ENST00000274773.7	37	CCDS4462.1																																																																																			TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	.	.		3	10					NM_203296	2		4	0.33
UPK2	7379	broad.mit.edu	hg19	11	118827106	118827106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr11:118827106delC	ENST00000264031.2	+	1	81	c.46delC	c.(46-48)ctgfs	p.L17fs	UPK2_ENST00000534788.1_Intron	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	17		cellular membrane organization|epithelial cell differentiation|multicellular organismal development	integral to endoplasmic reticulum membrane|integral to plasma membrane		kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	GATCCTGATTCTGCTGGCTCT	0.647	0	86.0	73.0	77.0	11	118827106	2200	4295	6495	SO:0001589	frameshift_variant	Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375		12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558			9515818, 9846985	Standard	NM_006760	Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.46delC	11.37:g.118827106delC	ENSP00000264031:p.Leu17fs	B0YJ92|O00457|Q53YV0	ENST00000264031.2	37	CCDS8404.1																																																																																			UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389311.1	.	.		-1	67					NM_006760	9		93	0.09
LINC00959	0	broad.mit.edu	hg19	10	131904796	131904799	+	RNA	DEL	AATG	AATG	-			TCGA-WC-A884-01A-11D-A39W-08	TCGA-WC-A884-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7108bcd9-3e0b-43ca-922e-fb5378fe8c75	17af4971-3df8-4388-9204-3076d4202cd1	g.chr10:131904796_131904799delAATG	ENST00000456581.1	-	0	114																					TTCGCAACAAAATGAATTGATGGC	0.363	0													10q26.3	2013-06-06			ENSG00000237489	ENSG00000237489	"""Long non-coding RNAs"""	48677	non-coding RNA	RNA, long non-coding						Standard	NR_034125	Approved				OTTHUMG00000019268		10.37:g.131904796_131904799delAATG			ENST00000456581.1	37																																																																																				LINC00959-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000051025.1	.	.		-2	68						9		19	0.32