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
TRPM5	29850	broad.mit.edu	hg19	11	2443545	2443545	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:2443545G>A	ENST00000452833.1	-	2	132	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	TRPM5_ENST00000155858.6_Missense_Mutation_p.R42W|TRPM5_ENST00000533060.1_Missense_Mutation_p.R42W|TRPM5_ENST00000528453.1_Missense_Mutation_p.R42W			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	42			integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	CTCGGCACCCGTACAAACTGC	0.672	0	34.0	38.0	37.0	11	2443545	2199	4297	6496	SO:0001583	missense	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985	"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600			10607831, 16382100	Standard	NM_014555	Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.124C>T	11.37:g.2443545G>A	ENSP00000155858:p.Arg42Trp		ENST00000155858.6	37	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	g	11.23	1.578777	0.28180	2.27E-4	0.0	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	2.64	1.47	0.22746	.	0.292311	0.27068	U	0.021099	T	0.19485	0.0468	M	0.78456	2.415	0.26968	N	0.965643	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.992;0.996	T	0.02042	-1.1224	10	0.87932	D	0	-11.9708	5.8348	0.18601	0.0:0.0:0.2851:0.7149	.	42;42;42	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	W	34;42;42;42;42;42	ENSP00000434383:R34W;ENSP00000155858:R42W;ENSP00000387965:R42W;ENSP00000434121:R42W;ENSP00000436809:R42W	ENSP00000155858:R42W	R	-	1	2	TRPM5	2400121	0.026000	0.19158	0.999000	0.59377	0.041000	0.13682	0.646000	0.24797	0.440000	0.26502	-0.373000	0.07131	CGG	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		-0.505829	0	5	46	0	0	1	0	NM_014555	3	6.377063	35	0.078947
RASGRF2	5924	broad.mit.edu	hg19	5	80408455	80408455	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr5:80408455A>G	ENST00000265080.4	+	14	1932	c.1865A>G	c.(1864-1866)gAc>gGc	p.D622G		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	622		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	CATAAAGACGACACTGACATT	0.522	0	138.0	135.0	136.0	5	80408455	2203	4300	6503	SO:0001583	missense	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319	"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614				Standard	NM_006909	Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1865A>G	5.37:g.80408455A>G	ENSP00000265080:p.Asp622Gly	B9EG89|Q9UK56	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954401	0.73902	.	.	ENSG00000113319	ENST00000265080	T	0.49139	0.79	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.53738	0.1815	M	0.81497	2.545	0.80722	D	1	P	0.38335	0.627	B	0.37144	0.242	T	0.62011	-0.6944	10	0.87932	D	0	.	15.8351	0.78791	1.0:0.0:0.0:0.0	.	622	O14827	RGRF2_HUMAN	G	622	ENSP00000265080:D622G	ENSP00000265080:D622G	D	+	2	0	RASGRF2	80444211	1.000000	0.71417	0.935000	0.37517	0.913000	0.54294	6.285000	0.72658	2.221000	0.72209	0.456000	0.33151	GAC	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		124.370589	0	-7	104	0	0	1	0	NM_006909	40	124.530519	48	0.454545
PKHD1L1	93035	broad.mit.edu	hg19	8	110412463	110412463	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr8:110412463C>T	ENST00000378402.5	+	13	1275	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	391		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)		ATTTGTTGCACGCTTTAGTGG	0.418	0	358.0	348.0	351.0	8	110412463	1888	4111	5999	SO:0001583	missense	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.1171C>T	8.37:g.110412463C>T	ENSP00000367655:p.Arg391Cys	Q567P2|Q9UF27	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120006	0.77323	.	.	ENSG00000205038	ENST00000378402	D	0.82081	-1.57	5.32	5.32	0.75619	PA14 (1);	0.000000	0.64402	D	0.000002	D	0.90652	0.7068	M	0.76170	2.325	0.53688	D	0.999975	D	0.89917	1.0	D	0.78314	0.991	D	0.91658	0.5340	10	0.87932	D	0	.	16.4877	0.84189	0.0:1.0:0.0:0.0	.	391	Q86WI1	PKHL1_HUMAN	C	391	ENSP00000367655:R391C	ENSP00000367655:R391C	R	+	1	0	PKHD1L1	110481639	1.000000	0.71417	0.988000	0.46212	0.916000	0.54674	4.079000	0.57613	2.481000	0.83766	0.563000	0.77884	CGC	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		137.828913	0	-37	257	0	0	1	0	NM_177531	57	159.657101	218	0.207273
PHLDB1	23187	broad.mit.edu	hg19	11	118499188	118499188	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:118499188C>T	ENST00000361417.2	+	7	2060	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	550					breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	CTTACTGGGGCTTCACCCTGC	0.612	0	17.0	19.0	18.0	11	118499188	2199	4292	6491	SO:0001583	missense		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144	"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834			14532993	Standard	NM_015157	Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1649C>T	11.37:g.118499188C>T	ENSP00000354498:p.Ala550Val	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320603	0.60634	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.33216	1.43;1.42	5.7	5.7	0.88788	.	0.615585	0.17599	N	0.168461	T	0.31358	0.0794	L	0.29908	0.895	0.80722	D	1	P;B;D	0.59357	0.473;0.138;0.985	B;B;P	0.47528	0.135;0.037;0.549	T	0.02546	-1.1143	10	0.15499	T	0.54	-4.2622	19.8471	0.96713	0.0:1.0:0.0:0.0	.	550;550;550	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	V	550;309;550	ENSP00000354498:A550V;ENSP00000348359:A550V	ENSP00000348359:A550V	A	+	2	0	PHLDB1	118004398	1.000000	0.71417	0.985000	0.45067	0.486000	0.33341	5.683000	0.68189	2.688000	0.91661	0.655000	0.94253	GCT	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		14.972293	0	5	22	0	0	1	0	NM_015157	5	15.123902	8	0.384615
GPR112	139378	broad.mit.edu	hg19	X	135469898	135469898	+	Splice_Site	SNP	G	G	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chrX:135469898G>T	ENST00000394143.1	+	16	8067		c.e16-1		GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Splice_Site|GPR112_ENST00000370652.1_Splice_Site|GPR112_ENST00000412101.1_Splice_Site	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112			neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)				TTTCTTGGCAGATTTTCCTAG	0.443	0	179.0	154.0	163.0	X	135469898	2203	4300	6503	SO:0001630	splice_region_variant	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920	"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product					12435584	Standard	XM_005262367	Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7777-1G>T	X.37:g.135469898G>T		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399821	0.25291	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000394141	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0371	0.86479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR112	135297564	1.000000	0.71417	0.795000	0.32087	0.016000	0.09150	5.564000	0.67359	2.375000	0.81037	0.600000	0.82982	.	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		132.662149	1	-91	76	0	1.62957e-23	1	1.75822e-23		38	137.468963	2	0.950000
MUC2	4583	broad.mit.edu	hg19	11	1101116	1101116	+	Silent	SNP	C	C	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:1101116C>A	ENST00000441003.2	+	41	7542	c.7515C>A	c.(7513-7515)acC>acA	p.T2505T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4867			inner mucus layer|outer mucus layer	protein binding	NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	AAGACGGCACCTACCTCGCCA	0.612	0	88.0	98.0	95.0	11	1101116	2118	4230	6348	SO:0001819	synonymous_variant	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788	"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""		15081123	Standard	NM_002457	Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7515C>A	11.37:g.1101116C>A		Q14878	ENST00000441003.2	37																																																																																				MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		45.984601	1	4	78	0	3.45872e-05	1	3.63609e-05	NM_002457	16	47.291799	33	0.326531
PHLDB1	23187	broad.mit.edu	hg19	11	118499187	118499187	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:118499187G>A	ENST00000361417.2	+	7	2059	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	PHLDB1_ENST00000356063.5_Missense_Mutation_p.A550T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	550					breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	TCTTACTGGGGCTTCACCCTG	0.612	0	17.0	18.0	18.0	11	118499187	2199	4293	6492	SO:0001583	missense		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144	"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834			14532993	Standard	NM_015157	Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1648G>A	11.37:g.118499187G>A	ENSP00000354498:p.Ala550Thr	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563734	0.65651	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.33438	1.42;1.41	5.7	2.59	0.31030	.	0.615585	0.17599	N	0.168461	T	0.22085	0.0532	L	0.40543	1.245	0.80722	D	1	P;P;P	0.48764	0.905;0.458;0.915	B;B;B	0.42522	0.39;0.137;0.366	T	0.03555	-1.1025	10	0.19590	T	0.45	-4.2622	7.1759	0.25744	0.1632:0.4249:0.412:0.0	.	550;550;550	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	T	550;309;550	ENSP00000354498:A550T;ENSP00000348359:A550T	ENSP00000348359:A550T	A	+	1	0	PHLDB1	118004397	0.999000	0.42202	0.993000	0.49108	0.912000	0.54170	1.169000	0.31871	0.726000	0.32339	0.655000	0.94253	GCT	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		15.172059	0	8	22	0	0	1	0	NM_015157	5	15.323764	8	0.384615
GNA11	2767	broad.mit.edu	hg19	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	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		74.598332	0	-11	70	0	0	1	0	NM_002067	24	74.598332	24	0.500000
DAK	26007	broad.mit.edu	hg19	11	61110817	61110817	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr11:61110817G>A	ENST00000394900.3	+	11	1098	c.869G>A	c.(868-870)gGc>gAc	p.G290D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	290	DhaK.	glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23					ATTGCAGAGGGCCGCGGGGTG	0.562	0	95.0	97.0	96.0	11	61110817	2203	4299	6502	SO:0001583	missense		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476		24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""			Standard	XM_005273898	Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.869G>A	11.37:g.61110817G>A	ENSP00000378360:p.Gly290Asp	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	ENST00000394900.3	37	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	2.245	-0.373007	0.05034	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.26660	1.72;1.72	5.64	1.3	0.21679	Dak kinase (2);	0.579973	0.18568	N	0.137409	T	0.09202	0.0227	N	0.02736	-0.51	0.35346	D	0.786881	B;B	0.14012	0.009;0.006	B;B	0.18871	0.008;0.023	T	0.29274	-1.0017	10	0.12430	T	0.62	-4.6794	9.0984	0.36653	0.18:0.3692:0.4508:0.0	.	290;290	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	D	290;289	ENSP00000378360:G290D;ENSP00000432539:G289D	ENSP00000378360:G290D	G	+	2	0	DAK	60867393	0.374000	0.25081	0.997000	0.53966	0.202000	0.24057	0.562000	0.23531	0.285000	0.22329	-0.379000	0.06801	GGC	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4		156.246569	0	-27	116	0	0	1	0	NM_015533	50	156.279863	54	0.480769
SF3B1	23451	broad.mit.edu	hg19	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		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)		TGTTGTGTTACGGACATACTC	0.438	12	95.0	92.0	93.0	2	198267483	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.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		52.068003	0	-4	50	0	0	1	0		17	52.328798	24	0.414634
LSMD1	84316	broad.mit.edu	hg19	17	7760097	7760097	+	Silent	SNP	A	A	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr17:7760097A>G	ENST00000333775.5	-	2	904	c.474T>C	c.(472-474)gtT>gtC	p.V158V	LSMD1_ENST00000576384.1_Silent_p.V68V|LSMD1_ENST00000576861.1_Silent_p.V84V|LSMD1_ENST00000335155.5_Silent_p.V110V|LSMD1_ENST00000575208.1_Silent_p.V58V|LSMD1_ENST00000575071.1_Silent_p.V68V|LSMD1_ENST00000575771.1_Silent_p.V58V	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	110			cytoplasm|nucleus		endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)			CCTCAATGGAAACGATGTGGT	0.562	0	106.0	104.0	105.0	17	7760097	2203	4300	6503	SO:0001819	synonymous_variant																									ENST00000576861.1:c.252T>C	17.37:g.7760097A>G		Q8N4M0	ENST00000576861.1	37																																																																																				LSMD1-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000440836.1		59.236646	0	-32	67	0	0	1	0		19	60.269502	35	0.351852
TNFSF14	0	broad.mit.edu	hg19	19	6665011	6665011	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:6665011C>T	ENST00000326176.9	-	5	922	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	TNFSF14_ENST00000599359.1_Missense_Mutation_p.V217I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.V181I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	217		cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18					AGCACACGGACGACCACCTTC	0.622	0	158.0	129.0	139.0	19	6665011	2203	4300	6503	SO:0001583	missense	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735	"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520			9462508	Standard	NM_172014	Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.649G>A	19.37:g.6665011C>T	ENSP00000469049:p.Val217Ile	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	ENST00000599359.1	37	CCDS12171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.89	2.373441	0.42105	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.37411	1.2	4.46	3.42	0.39159	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.083570	0.47093	D	0.000244	T	0.31327	0.0793	L	0.46741	1.465	0.32364	N	0.556802	P;P	0.50943	0.94;0.861	B;B	0.42361	0.385;0.095	T	0.49143	-0.8970	10	0.51188	T	0.08	-2.5432	10.7358	0.46124	0.0:0.9045:0.0:0.0955	.	217;181	O43557;O43557-2	TNF14_HUMAN;.	I	217;181	ENSP00000326940:V181I	ENSP00000245912:V217I	V	-	1	0	TNFSF14	6616011	0.991000	0.36638	0.620000	0.29132	0.457000	0.32468	3.191000	0.50981	2.038000	0.60285	0.561000	0.74099	GTC	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1		54.770532	0	-13	63	0	0	1	0		20	56.916885	45	0.307692
ARNT2	9915	broad.mit.edu	hg19	15	80762584	80762584	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr15:80762584C>T	ENST00000533983.1	+	5	526	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000303329.4_Missense_Mutation_p.R74C|ARNT2_ENST00000527771.1_Missense_Mutation_p.R63C			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	74		central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)		AATCGAAAGGCGCAGACGGAA	0.498	0	74.0	64.0	68.0	15	80762584	2203	4300	6503	SO:0001583	missense	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379	"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036			11247670	Standard	NM_014862	Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.220C>T	15.37:g.80762584C>T	ENSP00000307479:p.Arg74Cys	B4DIS7|O15024|Q8IYC2	ENST00000303329.4	37	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737579	0.69304	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	D	0.98493	-4.96	5.0	4.08	0.47627	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.98794	1.0737	10	0.56958	D	0.05	.	15.0601	0.71944	0.1427:0.8573:0.0:0.0	.	74;74	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	C	63;74;74	ENSP00000307479:R74C	ENSP00000307479:R74C	R	+	1	0	ARNT2	78549639	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	5.581000	0.67471	1.323000	0.45263	0.650000	0.86243	CGC	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		41.549585	0	-8	17	0	0	1	0		14	41.695254	10	0.583333
ACSM4	341392	broad.mit.edu	hg19	12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr12:7477186C>T	ENST00000399422.4	+	11	1576	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	510		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	endometrium(6)|kidney(1)|lung(14)	21					AGATCAAATCCGCGGAGAGGT	0.438	0	99.0	92.0	94.0	12	7477186	1926	4122	6048	SO:0001583	missense		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009	"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360			17762044	Standard	NM_001080454	Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1528C>T	12.37:g.7477186C>T	ENSP00000382349:p.Arg510Cys	A8MTI6	ENST00000399422.4	37	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004867	0.35415	2.6E-4	1.21E-4	ENSG00000215009	ENST00000399422	T	0.59772	0.24	2.58	1.59	0.23543	.	0.000000	0.33309	U	0.005056	T	0.76126	0.3944	M	0.91354	3.2	0.48341	D	0.999634	D	0.89917	1.0	D	0.87578	0.998	T	0.75642	-0.3247	10	0.87932	D	0	-17.6681	6.9255	0.24412	0.5741:0.4259:0.0:0.0	.	510	P0C7M7	ACSM4_HUMAN	C	510	ENSP00000382349:R510C	ENSP00000382349:R510C	R	+	1	0	ACSM4	7368453	0.025000	0.19082	0.995000	0.50966	0.540000	0.34992	0.194000	0.17135	0.553000	0.29044	0.557000	0.71058	CGC	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2		42.152007	0	1	25	0	0	1	0	NM_001080454	15	43.165118	29	0.340909
RYR2	6262	ucsc.edu	hg19	1	237969576	237969576	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6																										ACTCACAATGGCAAACAGGTA	0.353	0	145.0	129.0	134.0	1	237969576	1867	4105	5972	SO:0001583	missense	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2	2380170, 8406504, 11159936	Standard	NM_001035	Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14291G>A	1.37:g.237969576G>A	ENSP00000355533:p.Gly4764Asp	Q15411|Q546N8|Q5T3P2	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096756	0.94197	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98512	-4.97;-4.97;-4.97	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.64402	U	0.000008	D	0.99275	0.9747	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99032	1.0821	10	0.72032	D	0.01	.	19.5999	0.95557	0.0:0.0:1.0:0.0	.	197;4764	F5H3C7;Q92736	.;RYR2_HUMAN	D	4764;4770;4748;197	ENSP00000355533:G4764D;ENSP00000353174:G4770D;ENSP00000443798:G4748D	ENSP00000353174:G4770D	G	+	2	0	RYR2	236036199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.775000	0.98995	2.700000	0.92200	0.655000	0.94253	GGC	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2				-9	46					NM_001035	4		35	
ADAMTS18	170692	broad.mit.edu	hg19	16	77465361	77465361	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:77465361T>G	ENST00000282849.5	-	3	744	c.326A>C	c.(325-327)cAc>cCc	p.H109P	ADAMTS18_ENST00000567121.1_5'UTR	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	109		proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118					AAGTTCTAAGTGCAGTTCCTG	0.483	0	155.0	157.0	157.0	16	77465361	2198	4300	6498	SO:0001583	missense	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21	11867212, 17546048	Standard	NM_199355	Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.326A>C	16.37:g.77465361T>G	ENSP00000282849:p.His109Pro	Q6P4R5|Q6ZWJ9	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190165	0.78789	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.06768	3.26;3.26	5.97	5.97	0.96955	Peptidase M12B, propeptide (1);	0.054240	0.64402	D	0.000001	T	0.36580	0.0972	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.33904	-0.9850	10	0.52906	T	0.07	.	15.6194	0.76793	0.0:0.0:0.0:1.0	.	109	Q8TE60	ATS18_HUMAN	P	109	ENSP00000282849:H109P;ENSP00000392540:H109P	ENSP00000282849:H109P	H	-	2	0	ADAMTS18	76022862	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.248000	0.78268	2.287000	0.76781	0.482000	0.46254	CAC	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1		209.778579	0	-25	171	0	0	1	0		66	209.778579	66	0.500000
GPR68	0	broad.mit.edu	hg19	14	91701320	91701320	+	Silent	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr14:91701320C>T	ENST00000535815.1	-	2	415	c.75G>A	c.(73-75)ccG>ccA	p.P25P	GPR68_ENST00000238699.3_Silent_p.P35P|GPR68_ENST00000531499.2_Silent_p.P25P	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	25		inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)	CATAGACCACCGGGGCCAGCG	0.607	0	84.0	73.0	77.0	14	91701320	2203	4300	6503	SO:0001819	synonymous_variant	U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714	"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404			8661159	Standard	NM_001177676	Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.75G>A	14.37:g.91701320C>T		Q13334|Q4VBB4|Q6IX34	ENST00000531499.2	37	CCDS9894.2																																																																																			GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395245.2		37.256112	0	-4	29	0	0	1	0		12	37.580179	19	0.387097
PDE8B	8622	broad.mit.edu	hg19	5	76607856	76607856	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr5:76607856G>A	ENST00000264917.5	+	2	422	c.377G>A	c.(376-378)aGa>aAa	p.R126K	PDE8B_ENST00000333194.4_Missense_Mutation_p.R126K|PDE8B_ENST00000346042.3_Missense_Mutation_p.R126K|PDE8B_ENST00000342343.4_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.R126K	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	126		cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	GGGCCCATGAGACTGACGCAG	0.433	0	198.0	191.0	193.0	5	76607856	2203	4300	6503	SO:0001583	missense	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390			9784418	Standard	NM_003719	Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.377G>A	5.37:g.76607856G>A	ENSP00000264917:p.Arg126Lys	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	ENST00000264917.5	37	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068457	0.55539	.	.	ENSG00000113231	ENST00000505926;ENST00000340978;ENST00000346042;ENST00000264917;ENST00000333194;ENST00000502945	T;T;T;T;T;T	0.71698	0.92;-0.54;-0.53;-0.59;-0.5;0.94	5.31	5.31	0.75309	.	0.053151	0.85682	D	0.000000	T	0.57021	0.2025	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.23650	0.086;0.007;0.03;0.089	B;B;B;B	0.28991	0.097;0.019;0.029;0.05	T	0.50162	-0.8860	10	0.12430	T	0.62	.	14.6965	0.69126	0.0:0.0:1.0:0.0	.	126;126;126;126	O95263-2;O95263-6;O95263-3;O95263	.;.;.;PDE8B_HUMAN	K	2;126;126;126;126;2	ENSP00000425720:R2K;ENSP00000345446:R126K;ENSP00000330428:R126K;ENSP00000264917:R126K;ENSP00000331336:R126K;ENSP00000426200:R2K	ENSP00000264917:R126K	R	+	2	0	PDE8B	76643612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.937000	0.99478	0.650000	0.86243	AGA	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3		104.050817	0	4	102	0	0	1	0	NM_003719	34	104.098492	38	0.472222
ZNF599	148103	broad.mit.edu	hg19	19	35250775	35250775	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr19:35250775A>C	ENST00000329285.8	-	4	1304	c.931T>G	c.(931-933)Ttt>Gtt	p.F311V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)		TTGCATAAAAAGGGTTTTTCT	0.418	0	95.0	105.0	102.0	19	35250775	2203	4300	6503	SO:0001583	missense	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896	"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product						Standard	NM_001007248	Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.931T>G	19.37:g.35250775A>C	ENSP00000333802:p.Phe311Val	Q569K0|Q5PRG1	ENST00000329285.8	37	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081222	0.36758	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22945	1.93	2.36	2.36	0.29203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35856	0.0946	M	0.87381	2.88	0.33808	D	0.627488	P	0.47841	0.901	B	0.44224	0.444	T	0.59231	-0.7493	9	0.87932	D	0	.	8.5684	0.33554	1.0:0.0:0.0:0.0	.	311	Q96NL3	ZN599_HUMAN	V	310;311	ENSP00000333802:F311V	ENSP00000333802:F311V	F	-	1	0	ZNF599	39942615	0.481000	0.25941	0.988000	0.46212	0.977000	0.68977	5.349000	0.66010	1.336000	0.45506	0.402000	0.26972	TTT	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2		86.753174	0	-31	88	0	0	1	0	XM_086046	29	88.190786	52	0.358025
CETP	1071	broad.mit.edu	hg19	16	56995983	56995983	+	Missense_Mutation	SNP	G	G	A	rs147758502	byFrequency	TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:56995983G>A	ENST00000200676.3	+	1	222	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CETP_ENST00000379780.2_Missense_Mutation_p.R31H|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	31		cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23					ATCGTGTGCCGCATCACCAAG	0.612	0	72.0	61.0	65.0	16	56995983	2198	4300	6498	SO:0001583	missense	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237	"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470			3600759, 2334701	Standard	NM_000078	Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.92G>A	16.37:g.56995983G>A	ENSP00000200676:p.Arg31His		ENST00000200676.3	37	CCDS10772.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846612	0.51164	0.0	3.49E-4	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.13089	2.62;2.62	3.92	3.92	0.45320	Lipid-binding serum glycoprotein, conserved site (1);Lipid-binding serum glycoprotein, N-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.000000	0.64402	U	0.000001	T	0.18718	0.0449	L	0.32530	0.975	0.80722	D	1	B;D	0.60575	0.045;0.988	B;P	0.53809	0.01;0.735	T	0.01488	-1.1342	10	0.87932	D	0	-18.5125	12.6205	0.56600	0.0:0.0:1.0:0.0	.	31;31	P11597-2;P11597	.;CETP_HUMAN	H	31	ENSP00000200676:R31H;ENSP00000369106:R31H	ENSP00000200676:R31H	R	+	2	0	CETP	55553484	0.993000	0.37304	0.743000	0.31040	0.232000	0.25224	2.623000	0.46435	1.686000	0.51046	0.305000	0.20034	CGC	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257059.1		-0.806418	0	-12	23	0	0	1	0	NM_000078	3	6.872629	38	0.073171
CSGALNACT1	55790	broad.mit.edu	hg19	8	19362817	19362817	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr8:19362817G>A	ENST00000454498.2	-	4	1542	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.R177W|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.R177W	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	177		anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)	AACTCATCCCGCTTGTCCTTC	0.547	0	111.0	97.0	101.0	8	19362817	2203	4300	6503	SO:0001583	missense	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408	"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""				17145758, 12446672	Standard	NM_018371	Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.529C>T	8.37:g.19362817G>A	ENSP00000411816:p.Arg177Trp	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114273	0.77210	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25	5.74	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60999	-0.7151	10	0.87932	D	0	-43.9759	12.9637	0.58472	0.0:0.0:0.7055:0.2945	.	177	Q8TDX6	CGAT1_HUMAN	W	177	ENSP00000411816:R177W;ENSP00000330805:R177W;ENSP00000310891:R177W;ENSP00000429809:R177W;ENSP00000442155:R177W	ENSP00000310891:R177W	R	-	1	2	CSGALNACT1	19407097	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	3.180000	0.50895	1.548000	0.49413	-0.311000	0.09066	CGG	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		24.028077	0	-6	47	0	0	1	0	NM_018371	10	27.220817	35	0.222222
PIP4K2A	5305	broad.mit.edu	hg19	10	22898574	22898574	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr10:22898574T>G	ENST00000376573.4	-	2	445	c.217A>C	c.(217-219)Aag>Cag	p.K73Q	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K14Q|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	73	PIPK.			1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29					TTGTCCACCTTTATTTTTGAA	0.348	0	133.0	132.0	132.0	10	22898574	2203	4300	6503	SO:0001583	missense	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867		8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A	7852364, 9367159	Standard	NM_005028	Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.217A>C	10.37:g.22898574T>G	ENSP00000365757:p.Lys73Gln	B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	ENST00000376573.4	37	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731184	0.89390	.	.	ENSG00000150867	ENST00000376573;ENST00000545335;ENST00000422321;ENST00000376565;ENST00000432610	T;T	0.30981	1.68;1.51	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	M	0.78049	2.395	0.80722	D	1	D	0.65815	0.995	D	0.64595	0.927	T	0.52328	-0.8590	10	0.27785	T	0.31	-35.4238	16.1966	0.82029	0.0:0.0:0.0:1.0	.	73	P48426	PI42A_HUMAN	Q	73;14;25;32;25	ENSP00000365757:K73Q;ENSP00000442098:K14Q	ENSP00000365749:K32Q	K	-	1	0	PIP4K2A	22938580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.232000	0.73038	0.528000	0.53228	AAG	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1		117.056789	0	-2	63	0	0	1	0	NM_005028	34	117.183216	28	0.548387
SEL1L3	23231	broad.mit.edu	hg19	4	25836895	25836895	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr4:25836895C>T	ENST00000399878.3	-	3	906	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G227S|SEL1L3_ENST00000502949.1_Missense_Mutation_p.G109S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	262			integral to membrane	binding	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14					TTGACAATGCCTGTGTTTTCT	0.502	0	103.0	103.0	103.0	4	25836895	1941	4131	6072	SO:0001583	missense	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490		29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""				9872452	Standard	XM_005248143	Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.784G>A	4.37:g.25836895C>T	ENSP00000382767:p.Gly262Ser	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628071	0.87560	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15372	2.43;2.43;2.43	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.43875	0.1267	M	0.71581	2.175	0.44862	D	0.997878	D	0.89917	1.0	D	0.97110	1.0	T	0.18335	-1.0340	10	0.87932	D	0	-21.3216	17.4575	0.87611	0.0:1.0:0.0:0.0	.	262	Q68CR1	SE1L3_HUMAN	S	262;227;109	ENSP00000382767:G262S;ENSP00000264868:G227S;ENSP00000425438:G109S	ENSP00000264868:G227S	G	-	1	0	SEL1L3	25445993	0.998000	0.40836	0.981000	0.43875	0.545000	0.35147	4.325000	0.59234	2.865000	0.98341	0.655000	0.94253	GGC	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		95.969465	0	-18	74	0	0	1	0	NM_015187	32	96.324513	43	0.426667
ZSCAN16	80345	broad.mit.edu	hg19	6	28093443	28093443	+	Silent	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr6:28093443C>T	ENST00000340487.4	+	2	371	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	74	SCAN box.	viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					GGCCAGAATGCCACACCAAGG	0.547	0	138.0	130.0	133.0	6	28093443	2203	4300	6503	SO:0001819	synonymous_variant	AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812	"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435		Standard	NM_025231	Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.222C>T	6.37:g.28093443C>T		Q9H6K2	ENST00000340487.4	37	CCDS4644.1																																																																																			ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040177.1		-50.482033	0	-1	130	0	0	1	0	NM_025231	4	6.746815	215	0.018265
PLCB2	5330	broad.mit.edu	hg19	15	40590425	40590425	+	Splice_Site	SNP	T	T	C			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr15:40590425T>C	ENST00000260402.3	-	11	1403	c.1154A>G	c.(1153-1155)aAa>aGa	p.K385R	PLCB2_ENST00000456256.2_Splice_Site_p.K385R|PLCB2_ENST00000557821.1_Splice_Site_p.K385R	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	385	PI-PLC X-box.	activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	GGGTCTCACTTTGAAGAAGAT	0.582	0	52.0	57.0	56.0	15	40590425	2062	4230	6292	SO:0001630	splice_region_variant		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841		9055	protein-coding gene	gene with protein product		604114			1644792, 9925923	Standard	XM_005254448	Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1155+1A>G	15.37:g.40590425T>C		A8K6J2|B9EGH5	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240037	0.79912	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.62788	-0.0;-0.0	5.01	5.01	0.66863	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.049718	0.85682	D	0.000000	T	0.61022	0.2314	N	0.17474	0.49	0.80722	D	1	D;B;P	0.58970	0.984;0.086;0.752	P;B;P	0.59948	0.866;0.09;0.456	T	0.59434	-0.7455	10	0.25751	T	0.34	.	14.8848	0.70560	0.0:0.0:0.0:1.0	.	385;385;385	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	R	385	ENSP00000260402:K385R;ENSP00000411991:K385R	ENSP00000260402:K385R	K	-	2	0	PLCB2	38377717	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.868000	0.87116	2.118000	0.64928	0.460000	0.39030	AAA	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		42.905395	0	-27	15	0	0	1	0		12	43.194633	7	0.631579
FAM65A	79567	broad.mit.edu	hg19	16	67575406	67575406	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr16:67575406C>T	ENST00000540839.3	+	12	1155	c.935C>T	c.(934-936)gCc>gTc	p.A312V	FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V|FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V|FAM65A_ENST00000379312.3_Missense_Mutation_p.A296V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	296			cytoplasm	binding	central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	GACCTGTTTGCCGCCCTGCCC	0.572	0	181.0	160.0	167.0	16	67575406	2198	4300	6498	SO:0001583	missense	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523		25836	protein-coding gene	gene with protein product					11572484	Standard	NM_001193522	Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000428437.2:c.917C>T	16.37:g.67575406C>T	ENSP00000389456:p.Ala306Val	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	ENST00000428437.2	37	CCDS54027.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746006	0.89663	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.02085	4.46;4.46;4.46	4.86	3.91	0.45181	.	0.160136	0.56097	N	0.000038	T	0.04003	0.0112	L	0.58810	1.83	0.80722	D	1	P;P;P;P	0.43287	0.686;0.686;0.686;0.802	B;B;B;B	0.40940	0.173;0.173;0.173;0.344	T	0.46428	-0.9192	10	0.56958	D	0.05	-6.5751	12.9985	0.58662	0.0:0.9213:0.0:0.0787	.	306;312;296;312	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	V	296;292;312;306	ENSP00000368614:A296V;ENSP00000042381:A292V;ENSP00000400099:A312V	ENSP00000042381:A292V	A	+	2	0	FAM65A	66132907	1.000000	0.71417	0.494000	0.27515	0.956000	0.61745	7.474000	0.81024	1.051000	0.40369	0.561000	0.74099	GCC	FAM65A-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420948.2		-33.527061	0	-6	150	0	0	1	0	NM_024519	4	6.787484	157	0.024845
LINC00570	0	broad.mit.edu	hg19	2	11542812	11542814	+	RNA	DEL	CCA	CCA	-			TCGA-V4-A9EJ-01A-11D-A39W-08	TCGA-V4-A9EJ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74ea8ce3-2e34-4978-9b9e-8696ffb954ca	3508b3dd-056e-4026-b3c3-742302289ca6	g.chr2:11542812_11542814delCCA	ENST00000417473.2	+	0	939_941					NR_047499.1																gccatcaccgccaccaccaccac	0.586	0											BX102688, AI493106		2p25.1	2012-10-19			ENSG00000224177	ENSG00000224177	"""Long non-coding RNAs"", ""-"""	43717	non-coding RNA	RNA, long non-coding					20887892	Standard	NR_047499	Approved	ncRNA-a5	uc031rnr.1		OTTHUMG00000151818		2.37:g.11542821_11542823delCCA			ENST00000417473.2	37																																																																																				LINC00570-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000324044.2	.	.		-3	7						3		3	0.50