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
USP34	9736	broad.mit.edu	hg19	2	61633100	61633100	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:61633100T>G	ENST00000398571.2	-	3	371	c.295A>C	c.(295-297)Aat>Cat	p.N99H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	99		positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)		TCTGCTTGATTACTCTCATCT	0.353	0	189.0	171.0	177.0	2	61633100	1876	4108	5984	SO:0001583	missense	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464	"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""		12838346	Standard	NM_014709	Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.295A>C	2.37:g.61633100T>G	ENSP00000381577:p.Asn99His	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307229	0.40795	.	.	ENSG00000115464	ENST00000398571	T	0.14893	2.47	6.17	6.17	0.99709	.	.	.	.	.	T	0.16128	0.0388	L	0.29908	0.895	0.36594	D	0.874275	P	0.50943	0.94	B	0.41723	0.365	T	0.05370	-1.0889	9	0.49607	T	0.09	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	99	Q70CQ2	UBP34_HUMAN	H	99	ENSP00000381577:N99H	ENSP00000381577:N99H	N	-	1	0	USP34	61486604	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.773000	0.38563	2.371000	0.80710	0.533000	0.62120	AAT	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		-19.368888	0	7	146	0	0	1	0		3	6.605565	103	0.028302
LCAT	3931	broad.mit.edu	hg19	16	67976291	67976291	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr16:67976291G>A	ENST00000264005.5	-	5	752	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	241		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	GCATGGGCTTGATGGAGCCAC	0.587	0	49.0	54.0	53.0	16	67976291	2198	4300	6498	SO:0001819	synonymous_variant		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398		6522	protein-coding gene	gene with protein product		606967				Standard	NM_000229	Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.723C>T	16.37:g.67976291G>A		Q53XQ3	ENST00000264005.5	37	CCDS10854.1																																																																																			LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		6.780515	0	-16	28	0	0	1	0		4	10.222445	24	0.142857
ZFYVE19	84936	broad.mit.edu	hg19	15	41099958	41099958	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr15:41099958A>G	ENST00000355341.4	+	1	672	c.171A>G	c.(169-171)ccA>ccG	p.P57P	ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000299173.10_Silent_p.P57P|ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	57				zinc ion binding	endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	CAAGGGGCCCAGGACTTGGCC	0.677	0	33.0	43.0	40.0	15	41099958	2032	4192	6224	SO:0001819	synonymous_variant	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140	"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product						Standard	NM_001077268	Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.171A>G	15.37:g.41099958A>G		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	ENST00000355341.4	37	CCDS42025.1																																																																																			ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1		27.041210	0	0	23	0	0	1	0	NM_032850	10	27.544911	18	0.357143
SF3B1	23451	broad.mit.edu	hg19	2	198267484	198267484	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:198267484G>A	ENST00000335508.6	-	14	1964	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)		GTTGTGTTACGGACATACTCA	0.433	5	93.0	90.0	91.0	2	198267484	2203	4300	6503	SO:0001583	missense	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524		10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""		9585501	Standard	XM_005246428	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1873C>T	2.37:g.198267484G>A	ENSP00000335321:p.Arg625Cys	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873082	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.90331	0.6975	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.93337	0.6706	10	0.87932	D	0	.	15.2676	0.73675	0.0:0.0:0.7451:0.2549	.	625	O75533	SF3B1_HUMAN	C	625	ENSP00000335321:R625C	ENSP00000335321:R625C	R	-	1	0	SF3B1	197975729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.689000	0.61723	1.444000	0.47605	-0.182000	0.12963	CGT	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		76.893558	0	6	60	0	0	1	0		24	77.268912	34	0.413793
CNTN5	53942	broad.mit.edu	hg19	11	100141958	100141958	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:100141958C>T	ENST00000524871.1	+	18	2589	c.2299C>T	c.(2299-2301)Cgc>Tgc	p.R767C	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R693C|CNTN5_ENST00000279463.3_Missense_Mutation_p.R767C|CNTN5_ENST00000528682.1_Missense_Mutation_p.R767C|CNTN5_ENST00000527185.1_Missense_Mutation_p.R767C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	767		cell adhesion	anchored to membrane|plasma membrane	protein binding	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	TCGAATGATCCGCACAAATGA	0.443	0	87.0	85.0	85.0	11	100141958	1918	4131	6049	SO:0001583	missense	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219				Standard	NM_014361	Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2299C>T	11.37:g.100141958C>T	ENSP00000435637:p.Arg767Cys	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408139	0.62399	2.61E-4	0.0	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.51	5.51	0.81932	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80668	-0.1280	10	0.87932	D	0	.	12.1217	0.53895	0.2713:0.7287:0.0:0.0	.	693;767	O94779-2;O94779	.;CNTN5_HUMAN	C	767;767;767;693;767	ENSP00000433575:R767C;ENSP00000436185:R767C;ENSP00000435637:R767C;ENSP00000393229:R693C;ENSP00000279463:R767C	ENSP00000279463:R767C	R	+	1	0	CNTN5	99647168	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.394000	0.44450	2.590000	0.87494	0.467000	0.42956	CGC	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		38.296185	0	11	35	0	0	1	0	NM_014361	12	38.484032	17	0.413793
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					CTCTGACCTTTGGCCCCCTAC	0.348	153	108.0	105.0	106.0	9	80409488	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		95.935905	0	-1	111	0	0	1	0	NM_002072	30	96.591659	45	0.400000
MAOB	4129	broad.mit.edu	hg19	X	43703012	43703012	+	Splice_Site	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:43703012T>A	ENST00000378069.4	-	2	194		c.e2-2		MAOB_ENST00000487544.1_Splice_Site|MAOB_ENST00000538942.1_Splice_Site|MAOB_ENST00000536181.1_Splice_Site	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B			xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					CTGCCATACCTGGGAGAAAAG	0.502	0	67.0	55.0	59.0	X	43703012	2203	4300	6503	SO:0001630	splice_region_variant		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535		6834	protein-coding gene	gene with protein product		309860				Standard	NM_000898	Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.47-2A>T	X.37:g.43703012T>A		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	ENST00000378069.4	37	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490090	0.84962	.	.	ENSG00000069535	ENST00000378069	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7115	0.69235	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAOB	43587956	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.579000	0.67457	1.855000	0.53841	0.486000	0.48141	.	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1		24.489050	0	14	72	0	0	1	0	NM_000898	11	29.924941	48	0.186441
SLCO2B1	11309	broad.mit.edu	hg19	11	74876892	74876892	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:74876892C>G	ENST00000289575.5	+	4	741	c.346C>G	c.(346-348)Cga>Gga	p.R116G	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94G|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_5'UTR	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116		sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					GCACCGACCCCGAATGATTGG	0.572	0	159.0	151.0	154.0	11	74876892	2200	4293	6493	SO:0001583	missense	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26			"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9		Standard	NM_007256	Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.346C>G	11.37:g.74876892C>G	ENSP00000289575:p.Arg116Gly	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	ENST00000289575.5	37	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095852	0.56075	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.74943	0.3783	M	0.93507	3.425	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.82617	-0.0369	9	.	.	.	.	14.1582	0.65430	0.0:1.0:0.0:0.0	.	116	O94956	SO2B1_HUMAN	G	116;94;94;94	ENSP00000289575:R116G;ENSP00000436513:R94G;ENSP00000433872:R94G;ENSP00000388912:R94G	.	R	+	1	2	SLCO2B1	74554540	1.000000	0.71417	0.918000	0.36340	0.145000	0.21501	5.160000	0.64929	2.180000	0.69256	0.563000	0.77884	CGA	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1		-14.249385	0	-14	147	0	0	1	0	NM_007256	9	17.765186	147	0.057692
DCAF11	0	broad.mit.edu	hg19	14	24589052	24589052	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr14:24589052C>T	ENST00000446197.3	+	11	1766	c.1039C>T	c.(1039-1041)Cct>Tct	p.P347S	DCAF11_ENST00000396941.4_Missense_Mutation_p.P321S|DCAF11_ENST00000396936.1_Missense_Mutation_p.P247S|DCAF11_ENST00000559115.1_Missense_Mutation_p.P347S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	347			CUL4 RING ubiquitin ligase complex	protein binding							TGACCCCAAGCCTGTGGGTGC	0.562	0	57.0	48.0	51.0	14	24589052	2203	4300	6503	SO:0001583	missense	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897	"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23		Standard	NM_025230	Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.1039C>T	14.37:g.24589052C>T	ENSP00000415556:p.Pro347Ser	B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	ENST00000446197.3	37	CCDS9610.1	.	.	.	.	.	.	.	.	.	.	c	31	5.077330	0.94000	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.64676	1.99	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.926;0.999;1.0	D;D;P;D;D	0.73708	0.981;0.932;0.793;0.974;0.976	T	0.65376	-0.6183	10	0.21014	T	0.42	-14.0051	17.9218	0.88969	0.0:1.0:0.0:0.0	.	270;321;247;347;347	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	S	347;321;247;321	ENSP00000380142:P247S;ENSP00000380146:P321S	ENSP00000323680:P347S	P	+	1	0	DCAF11	23658892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.609000	0.74173	2.837000	0.97791	0.655000	0.94253	CCT	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071907.4		19.819725	0	3	26	0	0	1	0		7	19.935772	10	0.411765
ACP2	53	broad.mit.edu	hg19	11	47261683	47261683	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:47261683C>T	ENST00000256997.3	-	11	1372	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	ACP2_ENST00000533929.1_Missense_Mutation_p.G391E|ACP2_ENST00000529444.1_Missense_Mutation_p.G356E|ACP2_ENST00000537863.1_Missense_Mutation_p.G232E|ACP2_ENST00000527256.1_Missense_Mutation_p.G387E|ACP2_ENST00000525230.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	419			integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10					GTGGTCCTCCCCATCTGCGAC	0.652	0	83.0	62.0	69.0	11	47261683	2201	4298	6499	SO:0001583	missense	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575		123	protein-coding gene	gene with protein product		171650			975882	Standard	NM_001610	Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000529444.1:c.1067G>A	11.37:g.47261683C>T	ENSP00000436658:p.Gly356Glu	E9PCI1|Q561W5|Q9BTU7	ENST00000529444.1	37		.	.	.	.	.	.	.	.	.	.	C	14.87	2.663225	0.47572	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000537863;ENST00000540414;ENST00000533929	T;T;T;T;T	0.10960	3.16;3.01;3.18;2.82;3.01	5.97	4.05	0.47172	.	0.156132	0.56097	D	0.000025	T	0.06050	0.0157	N	0.08118	0	0.37141	D	0.901701	B;B;B;B	0.11235	0.003;0.003;0.003;0.004	B;B;B;B	0.13407	0.009;0.009;0.005;0.008	T	0.31503	-0.9941	10	0.30078	T	0.28	.	11.7446	0.51813	0.139:0.7276:0.1334:0.0	.	356;387;391;419	E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;PPAL_HUMAN	E	419;356;387;232;409;391	ENSP00000256997:G419E;ENSP00000436658:G356E;ENSP00000432205:G387E;ENSP00000441933:G232E;ENSP00000432439:G391E	ENSP00000256997:G419E	G	-	2	0	ACP2	47218259	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	2.317000	0.43770	0.802000	0.34089	0.655000	0.94253	GGG	ACP2-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000392270.1		6.814365	0	-7	58	0	0	1	0	NM_001610	6	15.134153	49	0.109091
RPS9	6203	ucsc.edu	hg19	19	54705418	54705418	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9																										GCCAAGATCCGCAAGGCCGCC	0.612	0	36.0	34.0	35.0	19	54705418	2203	4300	6503	SO:0001583	missense	U14971	CCDS12884.1	19q13.4	2011-04-05			ENSG00000170889	ENSG00000170889	"""S ribosomal proteins"""	10442	protein-coding gene	gene with protein product	"""40S ribosomal protein S9"""	603631			7772601, 9582194	Standard	XM_005259135	Approved	S9	uc002qdx.3	P46781	OTTHUMG00000066618	ENST00000302907.4:c.161G>A	19.37:g.54705418G>A	ENSP00000302896:p.Arg54His	A9C4C1|Q4QRK7|Q9BVZ0	ENST00000302907.4	37	CCDS12884.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362016	0.82353	.	.	ENSG00000170889	ENST00000302907;ENST00000391752;ENST00000402367;ENST00000391751;ENST00000391753;ENST00000441429	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	4.33	4.33	0.51752	Ribosomal protein S4/S9, N-terminal (1);	0.054323	0.85682	D	0.000000	T	0.79986	0.4541	H	0.98314	4.2	0.80722	D	1	D;D;B;P	0.59767	0.982;0.986;0.279;0.907	P;P;B;B	0.51833	0.681;0.561;0.103;0.408	D	0.88272	0.2930	10	0.66056	D	0.02	-20.45	15.1108	0.72355	0.0:0.0:1.0:0.0	.	54;54;54;54	B5MCT8;C9JM19;A8MXK4;P46781	.;.;.;RS9_HUMAN	H	54	ENSP00000302896:R54H;ENSP00000375632:R54H;ENSP00000383937:R54H;ENSP00000375631:R54H;ENSP00000375633:R54H;ENSP00000414314:R54H	ENSP00000302896:R54H	R	+	2	0	RPS9	59397230	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.874000	0.92363	2.356000	0.79943	0.462000	0.41574	CGC	RPS9-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142834.3				-2	27					NM_001013	4		23	
KCNK3	3777	broad.mit.edu	hg19	2	26950643	26950643	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr2:26950643G>A	ENST00000302909.3	+	2	517	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	131		synaptic transmission	integral to plasma membrane		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTGGGCGAGCGCATCAACACC	0.652	0	86.0	78.0	81.0	2	26950643	2203	4300	6503	SO:0001583	missense	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303	"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220			9312005, 9721223, 16382106	Standard	NM_002246	Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.392G>A	2.37:g.26950643G>A	ENSP00000306275:p.Arg131His	Q53SU2	ENST00000302909.3	37	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844252	0.91197	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.32272	1.46	5.27	5.27	0.74061	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.52141	0.1716	L	0.55017	1.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.52510	-0.8566	10	0.87932	D	0	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	131	O14649	KCNK3_HUMAN	H	8;131	ENSP00000306275:R131H	ENSP00000306275:R131H	R	+	2	0	KCNK3	26804147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.619000	0.88677	0.561000	0.74099	CGC	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2		-7.025675	0	-8	62	0	0	1	0	NM_002246	3	6.418006	59	0.048387
G6PD	2539	broad.mit.edu	hg19	X	153761236	153761236	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chrX:153761236G>A	ENST00000393562.2	-	9	1445	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D	G6PD_ENST00000393564.2_Silent_p.D324D|G6PD_ENST00000369620.2_Silent_p.D370D	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	324		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CCGTGGGGTCGTCCAGGTACC	0.617	2	81.0	65.0	71.0	X	153761236	2203	4300	6503	SO:0001819	synonymous_variant	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211		4057	protein-coding gene	gene with protein product		305900			3012556, 2428611	Standard	NM_000402	Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393562.2:c.1062C>T	X.37:g.153761236G>A		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	ENST00000393562.2	37	CCDS14756.2																																																																																			G6PD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000061165.6		-11.843682	0	-11	93	0	0	1	0	NM_000402	4	6.994016	82	0.046512
SLC5A12	159963	broad.mit.edu	hg19	11	26725463	26725463	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr11:26725463G>A	ENST00000396005.3	-	5	866	c.557C>T	c.(556-558)gCa>gTa	p.A186V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.A186V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	186		sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35					CATCTGAAATGCATCTGTCCA	0.423	0	216.0	192.0	200.0	11	26725463	2203	4299	6502	SO:0001583	missense	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942	"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""		12477932	Standard	NM_178498	Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.557C>T	11.37:g.26725463G>A	ENSP00000379326:p.Ala186Val	Q86UC7	ENST00000396005.3	37	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374686	0.11409	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.87103	-2.21;-2.21	5.16	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	N	0.00521	-1.4	0.50313	D	0.999869	B;B	0.25609	0.006;0.13	B;B	0.36666	0.023;0.23	T	0.68142	-0.5487	10	0.02654	T	1	.	14.0444	0.64695	0.0748:0.0:0.9252:0.0	.	186;186	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	V	186	ENSP00000379326:A186V;ENSP00000280467:A186V	ENSP00000280467:A186V	A	-	2	0	SLC5A12	26682039	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.859000	0.55987	2.412000	0.81896	0.484000	0.47621	GCA	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1		200.037092	0	23	172	0	0	1	0	NM_178498	66	200.038770	67	0.496241
CNST	163882	broad.mit.edu	hg19	1	246823587	246823587	+	Silent	SNP	A	A	G			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr1:246823587A>G	ENST00000366513.4	+	10	2192	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	641		positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28					AACACAAACCATCTAAGCGAA	0.428	0	181.0	164.0	170.0	1	246823587	2203	4300	6503	SO:0001819	synonymous_variant	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71	19864490	Standard	NM_152609	Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1923A>G	1.37:g.246823587A>G		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	ENST00000366513.4	37	CCDS1628.1																																																																																			CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		141.202139	0	-22	93	0	0	1	0	NM_152609	47	143.605281	85	0.356061
POU2AF1	5450	ucsc.edu	hg19	11	111229639	111229639	+	Silent	SNP	T	T	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9																										GCTCCGGAGCTGTGGCTGTGA	0.627	0	48.0	49.0	48.0	11	111229639	2201	4297	6498	SO:0001819	synonymous_variant		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777		9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""		8617501	Standard	NM_006235	Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.21A>T	11.37:g.111229639T>A		B2R8Z9|Q14983	ENST00000393067.3	37	CCDS31675.1																																																																																			POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1				-17	33					NM_006235	4		31	
RUNDC1	146923	broad.mit.edu	hg19	17	41143307	41143307	+	Silent	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr17:41143307G>A	ENST00000361677.1	+	5	1428	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	472	RUN.				breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)	CCATGCACCCGTGGGAGCTCT	0.577	0	60.0	60.0	60.0	17	41143307	2203	4300	6503	SO:0001819	synonymous_variant	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863		25418	protein-coding gene	gene with protein product					12477932	Standard	NM_173079	Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1416G>A	17.37:g.41143307G>A		Q6Y2K8|Q8IXT9|Q8N3W1	ENST00000361677.1	37	CCDS11448.1																																																																																			RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1		22.783535	0	-9	67	0	0	1	0	NM_173079	11	29.957548	56	0.164179
WDFY3	23001	broad.mit.edu	hg19	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr4:85715780G>A	ENST00000322366.6	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127			cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	TTTGCTCGGCGCACAACAGTA	0.448	0	131.0	132.0	132.0	4	85715780	2203	4300	6503	SO:0001583	missense	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product					10231032	Standard	NM_014991	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	WDFY3	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		-24.014769	0	21	130	0	0	1	0	NM_014991	4	6.792541	124	0.031250
PKHD1L1	93035	broad.mit.edu	hg19	8	110503272	110503286	+	In_Frame_Del	DEL	ATTTGGGACAGATGG	ATTTGGGACAGATGG	-			TCGA-V4-A9EW-01A-11D-A39W-08	TCGA-V4-A9EW-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e7bedd-c8d7-4d5c-8d8b-73294d8f6832	83f6517f-1a07-46fa-a2bc-6f875ca188d9	g.chr8:110503272_110503286delATTTGGGACAGATGG	ENST00000378402.5	+	61	10160_10174	c.10056_10070delATTTGGGACAGATGG	c.(10054-10071)gtatttgggacagatgga>gta	p.FGTDG3353del		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3353		immune response	cytosol|extracellular space|integral to membrane	receptor activity	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		CAATTGGTGTATTTGGGACAGATGGATTGGACATA	0.381	1									SO:0001651	inframe_deletion	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038		20313	protein-coding gene	gene with protein product		607843			12620974	Standard	NM_177531	Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10056_10070delATTTGGGACAGATGG	8.37:g.110503272_110503286delATTTGGGACAGATGG	ENSP00000367655:p.Phe3353_Gly3357del	Q567P2|Q9UF27	ENST00000378402.5	37	CCDS47911.1																																																																																			PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	.	.		28	78					NM_177531	8		62	0.11