#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48314761	48314761	+	Missense_Mutation	SNP	G	G	A	rs374948280		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:48314761G>A	ENST00000435803.1	+	17	5522	c.5498G>A	c.(5497-5499)cGg>cAg	p.R1833Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1833					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R1778Q(1)|p.R1833Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGGATTTCGGCAGAATTCA	0.413																																																	2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG	1,3709		0,1,1854	52.0	50.0	51.0		5498	-2.7	0.0	7		51	1,8207		0,1,4103	no	missense	ABCA13	NM_152701.3	43	0,2,5957	AA,AG,GG		0.0122,0.027,0.0168	benign	1833/5059	48314761	2,11916	1855	4104	5959	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5498G>A	7.37:g.48314761G>A	ENSP00000411096:p.Arg1833Gln	Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.463184	0.01062	2.7E-4	1.22E-4	ENSG00000179869	ENST00000435803	T	0.13307	2.6	5.9	-2.72	0.05968	.	0.727306	0.11901	N	0.518600	T	0.02267	0.0070	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	9	.	.	.	.	5.8619	0.18752	0.5465:0.0:0.3366:0.1169	.	1833	Q86UQ4	ABCAD_HUMAN	Q	1833	ENSP00000411096:R1833Q	.	R	+	2	0	ABCA13	48285307	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.216000	0.09266	-0.735000	0.04837	-0.295000	0.09555	CGG		0.413	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ABCC5	10057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183669339	183669339	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:183669339G>A	ENST00000334444.6	-	20	3074	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	ABCC5_ENST00000265586.6_Missense_Mutation_p.S945F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	945	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.S945F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATGCAGCCGGGAGGAAGCTCG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											60.0	67.0	65.0					3																	183669339		2056	4215	6271	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2834C>T	3.37:g.183669339G>A	ENSP00000333926:p.Ser945Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	33	5.265534	0.95399	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	T;T	0.50813	0.73;0.73	5.83	5.83	0.93111	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.67173	0.2865	M	0.76002	2.32	0.80722	D	1	P;P	0.50156	0.932;0.886	P;P	0.56823	0.807;0.618	T	0.67635	-0.5620	10	0.59425	D	0.04	-22.7548	20.1252	0.97977	0.0:0.0:1.0:0.0	.	945;945	Q86UX3;O15440	.;MRP5_HUMAN	F	945	ENSP00000333926:S945F;ENSP00000265586:S945F	ENSP00000265586:S945F	S	-	2	0	ABCC5	185152033	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.741000	0.84997	2.758000	0.94735	0.591000	0.81541	TCC		0.577	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688	
ACAN	176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89382103	89382103	+	Missense_Mutation	SNP	G	G	A	rs370626315		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:89382103G>A	ENST00000561243.1	+	2	280	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	ACAN_ENST00000352105.7_Missense_Mutation_p.V94M|ACAN_ENST00000558207.1_Missense_Mutation_p.V94M|ACAN_ENST00000559004.1_Missense_Mutation_p.V94M|ACAN_ENST00000439576.2_Missense_Mutation_p.V94M			P16112	PGCA_HUMAN	aggrecan	94	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V94M(3)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAAGGGCGCGTGCGGGTCAA	0.622																																																	3	Substitution - Missense(3)	kidney(2)|prostate(1)						G	MET/VAL,MET/VAL	0,4276		0,0,2138	134.0	157.0	149.0		280,280	5.4	0.9	15		149	1,8527		0,1,4263	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	21,21	0,1,6401	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	94/2432,94/2531	89382103	1,12803	2138	4264	6402	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.280G>A	15.37:g.89382103G>A	ENSP00000453342:p.Val94Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034580	0.54896	0.0	1.17E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.65549	-0.16;-0.16	5.36	5.36	0.76844	.	.	.	.	.	T	0.79034	0.4378	M	0.83384	2.64	0.37593	D	0.920267	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.986	D	0.83501	0.0075	9	0.72032	D	0.01	-17.7678	11.838	0.52338	0.0897:0.0:0.9103:0.0	.	94;94;94	E7ENV9;E7EX88;Q6PID9	.;.;.	M	94	ENSP00000387356:V94M;ENSP00000341615:V94M	ENSP00000268134:V94M	V	+	1	0	ACAN	87183107	1.000000	0.71417	0.850000	0.33497	0.789000	0.44602	5.568000	0.67385	2.689000	0.91719	0.591000	0.81541	GTG		0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135	
ACBD5	91452	broad.mit.edu	37	10	27529390	27529390	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr10:27529390G>A	ENST00000375888.1	-	1	97	c.33C>T	c.(31-33)agC>agT	p.S11S	ACBD5_ENST00000476758.1_5'UTR|RP11-85G18.6_ENST00000574842.1_lincRNA|ACBD5_ENST00000375905.4_5'UTR|ACBD5_ENST00000375901.1_5'UTR|ACBD5_ENST00000375897.3_5'UTR|ACBD5_ENST00000396271.3_Silent_p.S13S			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	11					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.S13S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCAGCACCAGCTTTCCCAAG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	57.0	56.0					10																	27529390		692	1591	2283	SO:0001819	synonymous_variant	91452			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.33C>T	10.37:g.27529390G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Silent	SNP	ENST00000375888.1	37																																																																																					0.627	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1		NM_145698	
Unknown	0	broad.mit.edu	37	14	106919168	106919168	+	IGR	DEL	C	C	-	rs139643696	byFrequency	TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:106919168delC								IGHV4-39 (41042 upstream) : IGHV3-43 (7019 downstream)																							ACGTTAACCTCCCCCTCACTG	0.557													CCCC|CCCCC|CCCC|insertion	1476	0.294728	0.4289	0.2233	5008	,	,		15151	0.1548		0.2644	False		,,,				2504	0.3395																0																																										SO:0001628	intergenic_variant	8755																															14.37:g.106919168delC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL		37																																																																																				0	0.557									
AFF3	3899	broad.mit.edu;ucsc.edu	37	2	100210335	100210340	+	In_Frame_Del	DEL	GGCTGA	GGCTGA	-	rs199557232|rs201754690|rs374209646		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	GGCTGA	GGCTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:100210335_100210340delGGCTGA	ENST00000409236.2	-	13	1895_1900	c.1783_1788delTCAGCC	c.(1783-1788)tcagccdel	p.SA595del	AFF3_ENST00000317233.4_In_Frame_Del_p.SA595del|AFF3_ENST00000409579.1_In_Frame_Del_p.SA620del|AFF3_ENST00000356421.2_In_Frame_Del_p.SA620del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	595					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGCCGTCCCCGGCTGAGGTCCTCTCG	0.782																																																	0									,	27,3181		7,13,1584					,	1.1	0.6			8	218,6682		26,166,3258	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	33,179,4842	A1A1,A1R,RR		3.1594,0.8416,2.4238	,	,		245,9863				SO:0001651	inframe_deletion	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1783_1788delTCAGCC	2.37:g.100210335_100210340delGGCTGA	ENSP00000387207:p.Ser595_Ala596del	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	ENST00000409236.2	37	CCDS42723.1																																																																																				0.782	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285	
AMPH	273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	38530710	38530710	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:38530710T>A	ENST00000356264.2	-	5	551	c.336A>T	c.(334-336)aaA>aaT	p.K112N	AMPH_ENST00000325590.5_Missense_Mutation_p.K112N|AMPH_ENST00000428293.2_Missense_Mutation_p.K112N	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	112	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.K112N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CATCCACGAGTTTTTGATGGA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											157.0	154.0	155.0					7																	38530710		2203	4300	6503	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.336A>T	7.37:g.38530710T>A	ENSP00000348602:p.Lys112Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.634658	0.67130	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.63255	-0.03;-0.03;-0.03	5.36	1.13	0.20643	BAR (3);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.74444	-0.3663	10	0.72032	D	0.01	-26.9253	7.9097	0.29782	0.0:0.498:0.0:0.502	.	112;112	P49418-2;P49418	.;AMPH_HUMAN	N	112	ENSP00000317441:K112N;ENSP00000348602:K112N;ENSP00000390734:K112N	ENSP00000317441:K112N	K	-	3	2	AMPH	38497235	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.663000	0.25053	0.220000	0.20860	0.377000	0.23210	AAA		0.393	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2		NM_001635	
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197087083	197087083	+	Silent	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:197087083A>G	ENST00000367409.4	-	17	4157	c.3901T>C	c.(3901-3903)Ttg>Ctg	p.L1301L	ASPM_ENST00000294732.7_Silent_p.L1301L|ASPM_ENST00000367408.1_Silent_p.L551L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1301					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.L1301L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTACAGCCAATTGAATAATT	0.313																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	111.0	107.0					1																	197087083		2199	4298	6497	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3901T>C	1.37:g.197087083A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				0.313	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136	
ASXL1	171023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	31023504	31023504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr20:31023504G>T	ENST00000375687.4	+	13	3413	c.2989G>T	c.(2989-2991)Gag>Tag	p.E997*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E992*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	997					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E997*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCCTCACGGTGAGTCCACGGA	0.517			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Nonsense(1)	kidney(1)											97.0	81.0	86.0					20																	31023504		2203	4300	6503	SO:0001587	stop_gained	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2989G>T	20.37:g.31023504G>T	ENSP00000364839:p.Glu997*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	43	10.454035	0.99408	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.76	4.76	0.60689	.	0.577829	0.18615	N	0.136021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-19.2652	16.5141	0.84294	0.0:0.0:1.0:0.0	.	.	.	.	X	997;997;997;918;992	.	ENSP00000305119:E992X	E	+	1	0	ASXL1	30487165	1.000000	0.71417	0.853000	0.33588	0.897000	0.52465	7.868000	0.87116	2.644000	0.89710	0.491000	0.48974	GAG		0.517	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338	
ATG2B	55102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	96789061	96789061	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:96789061T>C	ENST00000359933.4	-	17	3445	c.2552A>G	c.(2551-2553)aAa>aGa	p.K851R	snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	851					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.K851R(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGATTTATTTTCAGTACAAT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											103.0	95.0	98.0					14																	96789061		1852	4096	5948	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2552A>G	14.37:g.96789061T>C	ENSP00000353010:p.Lys851Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.918709	0.92249	.	.	ENSG00000066739	ENST00000359933	T	0.10668	2.85	5.67	5.67	0.87782	.	0.084363	0.45867	U	0.000337	T	0.24736	0.0600	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	D	0.75020	0.985	T	0.04811	-1.0925	10	0.11182	T	0.66	.	15.9086	0.79450	0.0:0.0:0.0:1.0	.	851	Q96BY7	ATG2B_HUMAN	R	851	ENSP00000353010:K851R	ENSP00000353010:K851R	K	-	2	0	ATG2B	95858814	1.000000	0.71417	0.978000	0.43139	0.921000	0.55340	5.773000	0.68898	2.164000	0.68074	0.533000	0.62120	AAA		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036	
BANK1	55024	hgsc.bcm.edu;ucsc.edu	37	4	102751231	102751231	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:102751231delA	ENST00000322953.4	+	2	611	c.337delA	c.(337-339)actfs	p.T113fs	BANK1_ENST00000504592.1_Frame_Shift_Del_p.T98fs|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000444316.2_Frame_Shift_Del_p.T83fs	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	113	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAGTGTAGTTACTTTGCTTTG	0.358																																																	0													73.0	76.0	75.0					4																	102751231		2203	4300	6503	SO:0001589	frameshift_variant	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.337delA	4.37:g.102751231delA	ENSP00000320509:p.Thr113fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Frame_Shift_Del	DEL	ENST00000322953.4	37	CCDS34038.1																																																																																				0.358	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1		NM_017935	
HEATR9	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34190111	34190111	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:34190111A>G	ENST00000311880.2	-	8	792	c.644T>C	c.(643-645)gTg>gCg	p.V215A	C17orf66_ENST00000592980.1_Missense_Mutation_p.V175A|C17orf66_ENST00000587585.1_5'Flank	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		215					hematopoietic progenitor cell differentiation (GO:0002244)			p.V215A(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGCCCGGATCACATGCTTATT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											126.0	121.0	123.0					17																	34190111		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.644T>C	17.37:g.34190111A>G	ENSP00000309560:p.Val215Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879967	0.72294	.	.	ENSG00000172653	ENST00000311880	T	0.45668	0.89	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.44097	D	0.000487	T	0.46600	0.1401	L	0.34521	1.04	0.37039	D	0.897074	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.987	T	0.42103	-0.9471	10	0.06365	T	0.9	.	11.7106	0.51623	1.0:0.0:0.0:0.0	.	181;175;215	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	A	215	ENSP00000309560:V215A	ENSP00000309560:V215A	V	-	2	0	C17orf66	31214224	1.000000	0.71417	0.976000	0.42696	0.989000	0.77384	4.007000	0.57093	2.269000	0.75478	0.533000	0.62120	GTG		0.552	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			
MROH9	80133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	170964596	170964596	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:170964596C>T	ENST00000367758.3	+	13	1360	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	MROH9_ENST00000367759.4_Missense_Mutation_p.P421S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	421								p.P421S(2)									CCAGTATTTCCCCCAGCTCTT	0.473																																																	2	Substitution - Missense(2)	kidney(2)											103.0	101.0	101.0					1																	170964596		1903	4113	6016	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1261C>T	1.37:g.170964596C>T	ENSP00000356732:p.Pro421Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.853283|2.853283	0.51270|0.51270	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000426136|ENST00000367759;ENST00000367758	.|T;T	.|0.66638	.|-0.22;1.4	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000017|0.000017	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.69823|0.69823	2.125|2.125	0.39317|0.39317	D|D	0.965182|0.965182	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.79962|0.79962	-0.1582|-0.1582	6|10	.|0.87932	.|D	.|0	-20.3591|-20.3591	14.6158|14.6158	0.68547|0.68547	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|421;421	.|F5GWX6;Q5TGP6	.|.;CA129_HUMAN	L|S	27|421	.|ENSP00000356733:P421S;ENSP00000356732:P421S	.|ENSP00000356732:P421S	P|P	+|+	2|1	0|0	C1orf129|C1orf129	169231220|169231220	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.050000|0.050000	0.14768|0.14768	2.153000|2.153000	0.42282|0.42282	2.523000|2.523000	0.85059|0.85059	0.643000|0.643000	0.83706|0.83706	CCC|CCC		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1		NM_025063	
C2orf71	388939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29295510	29295510	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:29295510T>G	ENST00000331664.5	-	1	1617	c.1618A>C	c.(1618-1620)Atg>Ctg	p.M540L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	540					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.M540L(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCAGAATCATTTCCTGGGCC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											50.0	54.0	53.0					2																	29295510		1960	4140	6100	SO:0001583	missense	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1618A>C	2.37:g.29295510T>G	ENSP00000332809:p.Met540Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863203	0.71949	.	.	ENSG00000179270	ENST00000331664	T	0.28666	1.6	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.70275	2.135	0.37762	D	0.926362	P	0.40970	0.734	B	0.43478	0.421	T	0.50154	-0.8861	10	0.52906	T	0.07	-23.7948	15.0202	0.71624	0.0:0.0:0.0:1.0	.	540	A6NGG8	CB071_HUMAN	L	540	ENSP00000332809:M540L	ENSP00000332809:M540L	M	-	1	0	C2orf71	29149014	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.590000	0.61013	1.961000	0.56991	0.459000	0.35465	ATG		0.552	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3		NM_001029883	
CCDC171	203238	hgsc.bcm.edu	37	9	15744426	15744427	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:15744426_15744427insG	ENST00000380701.3	+	17	2533_2534	c.2205_2206insG	c.(2206-2208)ggtfs	p.G736fs	CCDC171_ENST00000297641.3_Frame_Shift_Ins_p.G736fs	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	736																	CATTAATGGCTGGTGCCTTATA	0.446																																																	0																																										SO:0001589	frameshift_variant	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2207dupG	9.37:g.15744428_15744428dupG	ENSP00000370077:p.Gly736fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Frame_Shift_Ins	INS	ENST00000380701.3	37	CCDS6481.1																																																																																				0.446	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4		NM_173550	
CACNA1C	775	broad.mit.edu	37	12	2800179	2800179	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:2800179G>A	ENST00000347598.4	+	49	6375	c.6375G>A	c.(6373-6375)gcG>gcA	p.A2125A	CACNA1C_ENST00000399641.1_Silent_p.A2077A|CACNA1C_ENST00000399597.1_Silent_p.A2077A|CACNA1C_ENST00000399621.1_Silent_p.A2096A|CACNA1C_ENST00000399617.1_Silent_p.A2112A|CACNA1C_ENST00000335762.5_Silent_p.A2102A|CACNA1C_ENST00000406454.3_Silent_p.A2148A|CACNA1C_ENST00000399644.1_Silent_p.A2077A|CACNA1C_ENST00000399629.1_Silent_p.A2094A|CACNA1C_ENST00000399634.1_Silent_p.A2148A|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.A2085A|CACNA1C_ENST00000402845.3_Silent_p.A2096A|CACNA1C_ENST00000399603.1_Silent_p.A2077A|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.A2118A|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399655.1_Silent_p.A2077A|CACNA1C_ENST00000399637.1_Silent_p.A2096A|CACNA1C_ENST00000399649.1_Silent_p.A2083A|CACNA1C_ENST00000399601.1_Silent_p.A2077A|CACNA1C_ENST00000327702.7_Silent_p.A2112A|CACNA1C_ENST00000399606.1_Silent_p.A2097A|CACNA1C_ENST00000399638.1_Silent_p.A2105A|CACNA1C_ENST00000399595.1_Silent_p.A2085A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2160					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A2190A(1)|p.A2118A(1)|p.A2112A(1)|p.A1612A(1)|p.A2125A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGAGAGCGCGGCCGACAACA	0.652																																																	5	Substitution - coding silent(5)	kidney(5)											12.0	15.0	14.0					12																	2800179		1983	4139	6122	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6375G>A	12.37:g.2800179G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.652	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CADM3	57863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159170640	159170640	+	Silent	SNP	C	C	T	rs143855176		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:159170640C>T	ENST00000368125.4	+	9	1282	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|DARC_ENST00000537147.1_5'Flank|CADM3_ENST00000368124.4_Silent_p.D409D	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	375					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.D409D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ATGCTCCAGACGCGGACACGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		11849	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						C	,	0,4406		0,0,2203	96.0	89.0	91.0		1125,1227	-7.6	0.9	1	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CADM3	NM_001127173.1,NM_021189.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	375/399,409/433	159170640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57863			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1125C>T	1.37:g.159170640C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	CCDS44251.1																																																																																				0.582	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		NM_021189	
CACNA1E	777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	181549889	181549889	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:181549889G>T	ENST00000367573.2	+	6	928	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.G310W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G310W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G261W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G261W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G310W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	310					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.G310W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACCATGGAAGGGTGGACCAC	0.527																																																	2	Substitution - Missense(2)	kidney(2)											91.0	89.0	90.0					1																	181549889		2039	4219	6258	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.928G>T	1.37:g.181549889G>T	ENSP00000356545:p.Gly310Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433646	0.83776	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99888	-7.54;-7.54;-7.54;-7.54;-7.54;-7.54;-7.54	4.81	4.81	0.61882	.	0.215037	0.48286	D	0.000198	D	0.99937	0.9972	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95753	0.8793	10	0.87932	D	0	.	17.4621	0.87622	0.0:0.0:1.0:0.0	.	310;310	Q15878-2;Q15878-3	.;.	W	310;310;310;261;261;310;310	ENSP00000432038:G310W;ENSP00000356542:G310W;ENSP00000434814:G310W;ENSP00000350183:G261W;ENSP00000351101:G261W;ENSP00000353222:G310W;ENSP00000356545:G310W	ENSP00000350183:G261W	G	+	1	0	CACNA1E	179816512	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.231000	0.72958	0.555000	0.69702	GGG		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721	
CD79B	974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62009607	62009607	+	Silent	SNP	C	C	T	rs199930415		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:62009607C>T	ENST00000006750.3	-	1	107	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CD79B_ENST00000392795.3_Silent_p.A5A|CD79B_ENST00000349817.2_Silent_p.A5A	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	5					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.A5A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CAGGAGACAACGCCAGCCTGG	0.622			"""Mis, O"""		DLBCL																																			Dom	yes		17	17q23	974	"""CD79b molecule, immunoglobulin-associated beta"""		L	1	Substitution - coding silent(1)	kidney(1)											88.0	68.0	75.0					17																	62009607		2203	4300	6503	SO:0001819	synonymous_variant	974			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.15G>A	17.37:g.62009607C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	CCDS11655.1																																																																																				0.622	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			
CDH20	28316	broad.mit.edu;hgsc.bcm.edu	37	18	59195205	59195205	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr18:59195205G>A	ENST00000262717.4	+	7	1421	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	CDH20_ENST00000536675.2_Silent_p.L341L|CDH20_ENST00000538374.1_Silent_p.L341L			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L341L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCAGCCCCTGAGTTTTGAAA	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	61.0	62.0					18																	59195205		2203	4300	6503	SO:0001819	synonymous_variant	28316			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1023G>A	18.37:g.59195205G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q495S3	Silent	SNP	ENST00000262717.4	37	CCDS11977.1																																																																																				0.438	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2		NM_031891	
CHAD	1101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48545894	48545894	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:48545894G>A	ENST00000508540.1	-	1	433	c.281C>T	c.(280-282)gCc>gTc	p.A94V	ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.A94V|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	94					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.A94V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCGCGGAAGGCACCGGCGGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											74.0	66.0	69.0					17																	48545894		2203	4300	6503	SO:0001583	missense	1101			U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.281C>T	17.37:g.48545894G>A	ENSP00000423812:p.Ala94Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	ENST00000508540.1	37	CCDS11568.1	.	.	.	.	.	.	.	.	.	.	G	32	5.145513	0.94603	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.05081	3.5;3.5	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00920	-1.1514	10	0.62326	D	0.03	.	16.9843	0.86336	0.0:0.0:1.0:0.0	.	94	O15335	CHAD_HUMAN	V	94	ENSP00000423812:A94V;ENSP00000258969:A94V	ENSP00000258969:A94V	A	-	2	0	CHAD	45900893	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.577000	0.98196	2.232000	0.73038	0.462000	0.41574	GCC		0.617	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3		NM_001267	
CYLC1	1538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	83128044	83128044	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chrX:83128044C>T	ENST00000329312.4	+	4	365	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	110					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L110F(1)|p.L109F(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAACCCATCTTAAAAAAGC	0.368																																																	2	Substitution - Missense(2)	kidney(2)											35.0	32.0	33.0					X																	83128044		2199	4292	6491	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.328C>T	X.37:g.83128044C>T	ENSP00000331556:p.Leu110Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	c	1.184	-0.637392	0.03557	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.44482	0.92	4.58	0.598	0.17512	.	.	.	.	.	T	0.20740	0.0499	N	0.14661	0.345	0.09310	N	1	P;P	0.41080	0.737;0.737	B;B	0.41691	0.364;0.364	T	0.11616	-1.0580	9	0.09843	T	0.71	3.6038	3.6359	0.08148	0.0:0.4647:0.1876:0.3477	.	110;110	P35663;F5H4V5	CYLC1_HUMAN;.	F	110	ENSP00000331556:L110F	ENSP00000331556:L110F	L	+	1	0	CYLC1	83014700	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.047000	0.01408	-0.124000	0.11724	0.600000	0.82982	CTT		0.368	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1		NM_021118	
CYP2B6	1555	broad.mit.edu;hgsc.bcm.edu	37	19	41515984	41515984	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr19:41515984C>T	ENST00000324071.4	+	6	915	c.908C>T	c.(907-909)aCc>aTc	p.T303I	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	303					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.T303I(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACTGAGACCACCAGCACCACT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											151.0	108.0	123.0					19																	41515984		2203	4299	6502	SO:0001583	missense	1555			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.908C>T	19.37:g.41515984C>T	ENSP00000324648:p.Thr303Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.005797	0.74932	.	.	ENSG00000197408	ENST00000324071	T	0.02606	4.23	4.58	3.54	0.40534	.	0.190375	0.45361	D	0.000376	T	0.07052	0.0179	L	0.59436	1.845	0.80722	D	1	P	0.48503	0.911	P	0.51016	0.656	T	0.14448	-1.0472	10	0.56958	D	0.05	.	10.7588	0.46253	0.0:0.9059:0.0:0.0941	.	303	P20813	CP2B6_HUMAN	I	303	ENSP00000324648:T303I	ENSP00000324648:T303I	T	+	2	0	CYP2B6	46207824	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	0.297000	0.19101	1.162000	0.42619	0.550000	0.68814	ACC		0.562	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1		NM_000767	
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu	37	15	65954291	65954291	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:65954291A>C	ENST00000431932.2	-	32	5698	c.5490T>G	c.(5488-5490)gaT>gaG	p.D1830E	DENND4A_ENST00000443035.3_Missense_Mutation_p.D1873E	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1830					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D1873E(1)|p.D1832E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTGTGAGACGATCGTATGCCA	0.363																																																	2	Substitution - Missense(2)	kidney(2)											180.0	157.0	164.0					15																	65954291		1870	4112	5982	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5490T>G	15.37:g.65954291A>C	ENSP00000396830:p.Asp1830Glu	Somatic		WXS	Illumina HiSeq	Phase_I	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	5.933	0.356201	0.11239	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04706	3.57;3.58	4.47	2.13	0.27403	.	0.000000	0.85682	D	0.000000	T	0.03053	0.0090	N	0.25825	0.765	0.41908	D	0.990458	B;B	0.22683	0.073;0.073	B;B	0.22880	0.039;0.042	T	0.50224	-0.8853	10	0.17832	T	0.49	.	4.3186	0.11005	0.5488:0.1674:0.2838:0.0	.	1873;1830	E7EPL3;Q7Z401	.;MYCPP_HUMAN	E	1873;1830	ENSP00000391167:D1873E;ENSP00000396830:D1830E	ENSP00000396830:D1830E	D	-	3	2	DENND4A	63741345	0.988000	0.35896	0.993000	0.49108	0.923000	0.55619	0.359000	0.20233	0.258000	0.21686	0.477000	0.44152	GAT		0.363	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848	
DMTF1	9988	broad.mit.edu;hgsc.bcm.edu	37	7	86811528	86811528	+	Intron	SNP	C	C	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:86811528C>G	ENST00000394703.5	+	12	1273				DMTF1_ENST00000432937.2_Intron|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000331242.7_Intron|DMTF1_ENST00000411766.2_3'UTR|DMTF1_ENST00000414194.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1						cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TGCTGATTGGCAGACTCTTGT	0.443																																																	0													82.0	78.0	80.0					7																	86811528		2203	4300	6503	SO:0001627	intron_variant	9988			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.711-16C>G	7.37:g.86811528C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	RNA	SNP	ENST00000394703.5	37	CCDS5601.1																																																																																				0.443	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5		NM_021145	
ELP2	55250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	33750159	33750159	+	Splice_Site	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr18:33750159G>T	ENST00000358232.6	+	20	2273	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	ELP2_ENST00000350494.6_Splice_Site_p.R732L|ELP2_ENST00000542824.1_Splice_Site_p.R667L|ELP2_ENST00000423854.2_Splice_Site_p.R667L|ELP2_ENST00000442325.2_Splice_Site_p.R802L|ELP2_ENST00000351393.6_Splice_Site_p.R711L	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	737					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)		p.R737L(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCTTCTCAACGGTCAGTCTCT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											128.0	109.0	116.0					18																	33750159		2203	4300	6503	SO:0001630	splice_region_variant	55250			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2210+1G>T	18.37:g.33750159G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054885	0.36277	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047294	0.85682	D	0.000000	T	0.80193	0.4578	M	0.77103	2.36	0.49687	D	0.999817	D;P;D;D;P;P	0.64830	0.994;0.955;0.994;0.975;0.817;0.914	P;P;P;P;P;P	0.60345	0.858;0.581;0.873;0.812;0.562;0.494	T	0.78301	-0.2257	10	0.27785	T	0.31	-11.1801	13.0019	0.58681	0.0:0.0:1.0:0.0	.	732;802;667;667;711;737	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	L	737;711;802;667;732;667	ENSP00000350967:R737L;ENSP00000257191:R711L;ENSP00000414851:R802L;ENSP00000391202:R667L;ENSP00000316051:R732L;ENSP00000443800:R667L	ENSP00000316051:R732L	R	+	2	0	ELP2	32004157	1.000000	0.71417	0.916000	0.36221	0.184000	0.23303	7.200000	0.77838	2.440000	0.82611	0.591000	0.81541	CGA		0.512	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2		NM_018255	Missense_Mutation
EP400	57634	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132491323	132491323	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:132491323C>T	ENST00000333577.4	+	16	3422	c.3313C>T	c.(3313-3315)Ctt>Ttt	p.L1105F	EP400_ENST00000389562.2_Missense_Mutation_p.L1068F|EP400_ENST00000389561.2_Missense_Mutation_p.L1069F|EP400_ENST00000332482.4_Missense_Mutation_p.L1032F|EP400_ENST00000330386.6_Missense_Mutation_p.L1069F			Q96L91	EP400_HUMAN	E1A binding protein p400	1105	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L1068F(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGGCCAAACTTTACAGGAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											82.0	81.0	81.0					12																	132491323		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3313C>T	12.37:g.132491323C>T	ENSP00000333602:p.Leu1105Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	6.487	0.458009	0.12342	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.71	4.81	0.61882	.	0.071421	0.64402	D	0.000018	D	0.98248	0.9420	H	0.99668	4.69	0.42002	D	0.990894	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.62298	0.9;0.9;0.9	D	0.99847	1.1067	10	0.72032	D	0.01	.	16.6371	0.85061	0.0:0.8698:0.1302:0.0	.	1069;1069;1068	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	F	1105;1069;1068;1032;1069;1069;1069	ENSP00000333602:L1105F;ENSP00000374212:L1069F;ENSP00000374213:L1068F;ENSP00000331737:L1032F;ENSP00000330620:L1069F	ENSP00000330620:L1069F	L	+	1	0	EP400	131057276	0.994000	0.37717	0.119000	0.21687	0.000000	0.00434	3.208000	0.51114	1.382000	0.46385	-0.291000	0.09656	CTT		0.438	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409	
EPHB2	2048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23191446	23191446	+	Silent	SNP	C	C	T	rs561374198		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:23191446C>T	ENST00000400191.3	+	5	1062	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	EPHB2_ENST00000544305.1_Silent_p.R348R|EPHB2_ENST00000374630.3_Silent_p.R348R|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Silent_p.R342R|EPHB2_ENST00000374632.3_Silent_p.R348R|MIR4253_ENST00000581187.1_RNA	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	348	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.R348R(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCCCTCCCCGCGACTCCGGAG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		15216	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											62.0	69.0	67.0					1																	23191446		2203	4300	6503	SO:0001819	synonymous_variant	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1044C>T	1.37:g.23191446C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37																																																																																					0.652	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2		NM_017449	
FAM19A1	407738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	68466568	68466568	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:68466568A>G	ENST00000478136.1	+	3	747	c.257A>G	c.(256-258)gAt>gGt	p.D86G	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.D86G	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	86						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.D86G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TCTTGCGTCGATGGTAGGTAC	0.398																																																	2	Substitution - Missense(2)	kidney(2)											151.0	147.0	148.0					3																	68466568		1880	4106	5986	SO:0001583	missense	407738			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.257A>G	3.37:g.68466568A>G	ENSP00000418575:p.Asp86Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0V3|Q8TCL8	Missense_Mutation	SNP	ENST00000478136.1	37	CCDS54606.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507622	0.64410	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	M	0.78456	2.415	0.52501	D	0.99995	D	0.69078	0.997	D	0.80764	0.994	T	0.82470	-0.0441	9	0.87932	D	0	.	15.9856	0.80151	1.0:0.0:0.0:0.0	.	86	Q7Z5A9	F19A1_HUMAN	G	86	.	ENSP00000418575:D86G	D	+	2	0	FAM19A1	68549258	1.000000	0.71417	0.932000	0.37286	0.005000	0.04900	9.283000	0.95860	2.230000	0.72887	0.482000	0.46254	GAT		0.398	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352004.1		NM_213609	
FARP2	9855	hgsc.bcm.edu;ucsc.edu	37	2	242380935	242380935	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:242380935C>A	ENST00000264042.3	+	13	1545	c.1375C>A	c.(1375-1377)Cag>Aag	p.Q459K	FARP2_ENST00000373287.4_Missense_Mutation_p.Q459K|FARP2_ENST00000545004.1_Missense_Mutation_p.Q459K	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	459	Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACCATCGGCCCAGCCCCTCGG	0.642																																																	0													29.0	32.0	31.0					2																	242380935		2203	4299	6502	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1375C>A	2.37:g.242380935C>A	ENSP00000264042:p.Gln459Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	C	5.119	0.207625	0.09704	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	T;T;T;T	0.81163	-0.86;-1.46;-1.46;-1.33	5.08	2.31	0.28768	.	5.122980	0.00166	N	0.000001	T	0.72269	0.3439	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25904	0.137;0.137;0.012	B;B;B	0.25140	0.058;0.035;0.007	T	0.53788	-0.8389	10	0.20519	T	0.43	.	8.3709	0.32415	0.0:0.7564:0.0:0.2436	.	459;459;459	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	K	459;459;459;146	ENSP00000264042:Q459K;ENSP00000443876:Q459K;ENSP00000362384:Q459K;ENSP00000412772:Q146K	ENSP00000264042:Q459K	Q	+	1	0	FARP2	242029608	0.004000	0.15560	0.003000	0.11579	0.004000	0.04260	1.854000	0.39368	0.188000	0.20168	0.655000	0.94253	CAG		0.642	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			
PAXBP1	94104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34117899	34117899	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr21:34117899A>C	ENST00000331923.4	-	12	2243	c.2054T>G	c.(2053-2055)cTt>cGt	p.L685R	PAXBP1_ENST00000290178.4_Missense_Mutation_p.L685R|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	685					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L685R(1)									TAGTTTAGGAAGAATCACCTT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											192.0	168.0	176.0					21																	34117899		2203	4300	6503	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2054T>G	21.37:g.34117899A>C	ENSP00000328992:p.Leu685Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385675	0.82792	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.55588	0.51;0.51	5.52	5.52	0.82312	GC-rich sequence DNA-binding factor domain (1);	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.79296	-0.1862	10	0.87932	D	0	-17.7291	15.5932	0.76554	1.0:0.0:0.0:0.0	.	685;685;194	Q9Y5B6-2;Q9Y5B6;B3KSC0	.;GCFC1_HUMAN;.	R	685	ENSP00000328992:L685R;ENSP00000290178:L685R	ENSP00000290178:L685R	L	-	2	0	GCFC1	33039770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.225000	0.72522	0.459000	0.35465	CTT		0.363	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329	
GNAI2	2771	broad.mit.edu;hgsc.bcm.edu	37	3	50290461	50290461	+	Silent	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:50290461C>T	ENST00000313601.6	+	4	693	c.309C>T	c.(307-309)gaC>gaT	p.D103D	GNAI2_ENST00000266027.5_Silent_p.D87D|GNAI2_ENST00000536647.1_Silent_p.D22D|GNAI2_ENST00000451956.1_Silent_p.D66D|GNAI2_ENST00000440628.1_Silent_p.D51D|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Silent_p.D87D	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	103					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.D103D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CCCAGGACGACGCCAGGCAGC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	76.0	78.0					3																	50290461		2203	4300	6503	SO:0001819	synonymous_variant	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.309C>T	3.37:g.50290461C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	ENST00000313601.6	37	CCDS2813.1																																																																																				0.642	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1		NM_002070	
GOLT1A	127845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204170926	204170926	+	Missense_Mutation	SNP	G	G	A	rs150924607		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:204170926G>A	ENST00000308302.3	-	3	316	c.131C>T	c.(130-132)aCg>aTg	p.T44M	GOLT1A_ENST00000475517.1_5'Flank	NM_198447.1	NP_940849.1			golgi transport 1A									p.T44M(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			GGACAGGCCCGTCAGGAACAG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18425	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											89.0	94.0	92.0					1																	204170926		2203	4300	6503	SO:0001583	missense	127845			BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.131C>T	1.37:g.204170926G>A	ENSP00000308535:p.Thr44Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000308302.3	37	CCDS1443.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.10	3.028585	0.54790	.	.	ENSG00000174567	ENST00000308302	T	0.42131	0.98	5.53	-0.356	0.12583	.	1.063270	0.07311	N	0.875775	T	0.50939	0.1645	L	0.49126	1.545	0.09310	N	1	D	0.58970	0.984	P	0.57425	0.82	T	0.48581	-0.9023	10	0.54805	T	0.06	-1.0292	9.6032	0.39617	0.1394:0.3417:0.5189:0.0	.	44	Q6ZVE7	GOT1A_HUMAN	M	44	ENSP00000308535:T44M	ENSP00000308535:T44M	T	-	2	0	GOLT1A	202437549	0.294000	0.24380	0.264000	0.24511	0.820000	0.46376	2.818000	0.48041	0.024000	0.15214	0.643000	0.83706	ACG		0.602	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1		NM_198447	
GPR174	84636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78426732	78426732	+	Silent	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chrX:78426732C>A	ENST00000276077.1	+	1	264	c.228C>A	c.(226-228)atC>atA	p.I76I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I76I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CACTGAGGATCTTCTACTACT	0.388										HNSCC(63;0.18)																																							1	Substitution - coding silent(1)	kidney(1)											128.0	97.0	108.0					X																	78426732		2203	4300	6503	SO:0001819	synonymous_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.228C>A	X.37:g.78426732C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3F7	Silent	SNP	ENST00000276077.1	37	CCDS14443.1																																																																																				0.388	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1		NM_032553	
HCN3	57657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155252388	155252388	+	Silent	SNP	T	T	C	rs140564885		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:155252388T>C	ENST00000368358.3	+	2	473	c.465T>C	c.(463-465)gcT>gcC	p.A155A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	155					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A155A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGAGGGTGCTGAGATCCTGC	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	93.0	98.0					1																	155252388		2203	4300	6503	SO:0001819	synonymous_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.465T>C	1.37:g.155252388T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	CCDS1108.1																																																																																				0.562	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1		NM_020897	
HDAC9	9734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	18625053	18625053	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:18625053C>A	ENST00000432645.2	+	2	172	c.172C>A	c.(172-174)Caa>Aaa	p.Q58K	HDAC9_ENST00000406072.1_Missense_Mutation_p.Q86K|HDAC9_ENST00000441542.2_Missense_Mutation_p.Q58K|HDAC9_ENST00000428307.2_Missense_Mutation_p.Q58K|HDAC9_ENST00000406451.4_Missense_Mutation_p.Q58K|HDAC9_ENST00000456174.2_Missense_Mutation_p.Q27K|HDAC9_ENST00000405010.3_Missense_Mutation_p.Q58K|HDAC9_ENST00000401921.1_Missense_Mutation_p.Q58K|HDAC9_ENST00000524023.1_Missense_Mutation_p.Q27K|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Missense_Mutation_p.Q100K	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	58					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q58K(3)|p.Q100K(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCAGCAGCAACAAATCCAGAA	0.493																																																	4	Substitution - Missense(4)	kidney(4)											62.0	64.0	63.0					7																	18625053		2003	4189	6192	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.172C>A	7.37:g.18625053C>A	ENSP00000410337:p.Gln58Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310622	0.81358	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62364	0.53;0.73;0.72;0.57;0.06;0.6;0.55;0.03;0.06;0.07;0.74;0.55;0.61	5.71	5.71	0.89125	Histone deacetylase, glutamine rich N-terminal domain (1);	0.108661	0.41194	D	0.000924	T	0.75671	0.3881	M	0.71206	2.165	0.80722	D	1	P;B;B;P;P;B;P;B;B;B;B;B;P	0.46578	0.503;0.021;0.447;0.88;0.503;0.071;0.59;0.447;0.165;0.052;0.447;0.449;0.503	B;B;B;P;B;B;B;B;B;B;B;B;B	0.54210	0.21;0.038;0.202;0.745;0.305;0.062;0.264;0.202;0.13;0.055;0.264;0.185;0.305	T	0.77424	-0.2593	10	0.87932	D	0	-15.0552	19.8505	0.96738	0.0:1.0:0.0:0.0	.	27;27;58;86;100;58;58;58;58;27;58;58;77	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	100;103;58;58;27;58;58;58;86;58;58;58;27;27;27;58	ENSP00000401669:Q100K;ENSP00000412497:Q58K;ENSP00000392564:Q58K;ENSP00000384382:Q58K;ENSP00000384657:Q58K;ENSP00000395655:Q58K;ENSP00000384017:Q86K;ENSP00000383912:Q58K;ENSP00000410337:Q58K;ENSP00000408617:Q58K;ENSP00000404763:Q27K;ENSP00000388568:Q27K;ENSP00000430036:Q27K	ENSP00000262069:Q103K	Q	+	1	0	HDAC9	18591578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.688000	0.91661	0.655000	0.94253	CAA		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			
HERC2	8924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	28501377	28501377	+	Silent	SNP	C	C	T	rs139718674		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:28501377C>T	ENST00000261609.7	-	18	2712	c.2604G>A	c.(2602-2604)acG>acA	p.T868T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.T868T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGTCACCACCGTCTGCTTCA	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											19.0	19.0	19.0					15																	28501377		2180	4213	6393	SO:0001819	synonymous_variant	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2604G>A	15.37:g.28501377C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000261609.7	37	CCDS10021.1																																																																																				0.627	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	
HIVEP3	59269	broad.mit.edu	37	1	41976454	41976454	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:41976454C>A	ENST00000372583.1	-	9	7774	c.6889G>T	c.(6889-6891)Ggg>Tgg	p.G2297W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2296W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.G2296W|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2297W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2297					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G2297W(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCAGGTGCCCCGGTCCCATGG	0.736																																																	1	Substitution - Missense(1)	kidney(1)											13.0	17.0	16.0					1																	41976454		2193	4293	6486	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6889G>T	1.37:g.41976454C>A	ENSP00000361664:p.Gly2297Trp	Somatic		WXS	Illumina GAIIx	Phase_I	A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	2.826	-0.243748	0.05906	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06218	3.34;3.33;3.33;3.34	4.49	-2.08	0.07254	.	0.517265	0.14352	N	0.325026	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.11329	0.006;0.003	T	0.37079	-0.9721	10	0.72032	D	0.01	-2.6273	5.3333	0.15944	0.0:0.3683:0.2486:0.3831	.	2296;2297	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	2296;2297;2297;2296	ENSP00000361665:G2296W;ENSP00000361664:G2297W;ENSP00000247584:G2297W;ENSP00000410828:G2296W	ENSP00000247584:G2297W	G	-	1	0	HIVEP3	41749041	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.407000	0.07178	-0.635000	0.05531	-0.258000	0.10820	GGG		0.736	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		NM_024503	
IL33	90865	hgsc.bcm.edu	37	9	6256088	6256088	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:6256088A>T	ENST00000381434.3	+	7	746	c.733A>T	c.(733-735)Aat>Tat	p.N245Y	IL33_ENST00000417746.2_Missense_Mutation_p.N119Y|IL33_ENST00000456383.2_Missense_Mutation_p.N203Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	245					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TGTAAAGGATAATCATCTTGC	0.383																																																	0													146.0	143.0	144.0					9																	6256088		2203	4300	6503	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.733A>T	9.37:g.6256088A>T	ENSP00000370842:p.Asn245Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381102	0.42207	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.58210	0.35;0.35;0.35	5.25	5.25	0.73442	.	0.116188	0.39341	N	0.001393	T	0.58736	0.2143	L	0.27053	0.805	0.37973	D	0.933335	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.989;0.993;0.993	T	0.65936	-0.6047	10	0.87932	D	0	-31.4594	11.7185	0.51668	1.0:0.0:0.0:0.0	.	119;203;245	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	Y	119;203;245	ENSP00000394039:N119Y;ENSP00000414238:N203Y;ENSP00000370842:N245Y	ENSP00000370842:N245Y	N	+	1	0	IL33	6246088	0.478000	0.25917	0.247000	0.24249	0.251000	0.25915	2.451000	0.44952	2.326000	0.78906	0.533000	0.62120	AAT		0.383	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1		NM_033439	
KIF12	113220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116859632	116859632	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:116859632G>C	ENST00000374118.3	-	4	418	c.181C>G	c.(181-183)Cgg>Ggg	p.R61G	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	194	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R61G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCACCACCCGCAGCTGCTCC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											36.0	39.0	38.0					9																	116859632		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.181C>G	9.37:g.116859632G>C	ENSP00000363232:p.Arg61Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	CCDS6801.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023002	0.35701	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.75367	-0.93	5.44	4.47	0.54385	Kinesin, motor domain (4);	0.541938	0.17542	N	0.170484	T	0.67702	0.2921	L	0.38953	1.18	0.33760	D	0.621694	P	0.35139	0.486	B	0.40477	0.33	T	0.76854	-0.2805	10	0.66056	D	0.02	.	9.7522	0.40483	0.0:0.0:0.7429:0.2571	.	194	Q96FN5	KIF12_HUMAN	G	61;194	ENSP00000363232:R61G	ENSP00000259410:R194G	R	-	1	2	KIF12	115899453	0.188000	0.23250	0.999000	0.59377	0.410000	0.31052	2.192000	0.42649	2.533000	0.85409	0.555000	0.69702	CGG		0.622	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1		NM_138424	
L1CAM	3897	broad.mit.edu	37	X	153130647	153130647	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chrX:153130647G>A	ENST00000370060.1	-	22	2957	c.2768C>T	c.(2767-2769)gCg>gTg	p.A923V	L1CAM_ENST00000543994.1_Missense_Mutation_p.A925V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A918V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A918V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A923V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A923V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A925V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	923	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)	p.A923V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGCAACGCCTCGGGGTG	0.687																																																	1	Substitution - Missense(1)	kidney(1)											31.0	28.0	29.0					X																	153130647		2194	4292	6486	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2768C>T	X.37:g.153130647G>A	ENSP00000359077:p.Ala923Val	Somatic		WXS	Illumina GAIIx	Phase_I	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172724	0.38413	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.259005	0.27280	N	0.020088	T	0.39517	0.1081	L	0.42245	1.32	0.09310	N	1	B;P;B	0.35456	0.087;0.502;0.106	B;B;B	0.33521	0.033;0.165;0.033	T	0.24621	-1.0155	10	0.14656	T	0.56	.	8.8655	0.35282	0.1044:0.0:0.8956:0.0	.	918;923;923	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	923;925;923;925;918;918;923	ENSP00000359077:A923V;ENSP00000438430:A925V;ENSP00000359074:A923V;ENSP00000439645:A925V;ENSP00000354712:A918V;ENSP00000359072:A918V;ENSP00000355380:A923V	ENSP00000355380:A923V	A	-	2	0	L1CAM	152783841	0.991000	0.36638	0.648000	0.29521	0.798000	0.45092	2.749000	0.47492	2.147000	0.66899	0.529000	0.55759	GCG		0.687	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2		NM_024003	
LPIN3	64900	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39987126	39987126	+	Silent	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr20:39987126C>T	ENST00000373257.3	+	19	2446	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	785	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.F785F(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CACGCATCTTCACAGTCAACC	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	80.0	78.0					20																	39987126		2203	4300	6503	SO:0001819	synonymous_variant	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2355C>T	20.37:g.39987126C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Silent	SNP	ENST00000373257.3	37	CCDS33469.1																																																																																				0.607	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1		NM_022896	
LRP1	4035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57600464	57600464	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:57600464G>A	ENST00000243077.3	+	76	12265	c.11799G>A	c.(11797-11799)gcG>gcA	p.A3933A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3933					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.A3933A(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCTGCTGCGCCTCCTACCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	73.0	86.0					12																	57600464		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11799G>A	12.37:g.57600464G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332	
LRRIQ1	84125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	85450294	85450294	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:85450294A>C	ENST00000393217.2	+	8	1784	c.1723A>C	c.(1723-1725)Atc>Ctc	p.I575L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	575								p.I575L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GCAGAAAATAATCAAAGATAA	0.289																																																	2	Substitution - Missense(2)	kidney(2)											35.0	38.0	37.0					12																	85450294		2195	4269	6464	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1723A>C	12.37:g.85450294A>C	ENSP00000376910:p.Ile575Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	A	8.960	0.970225	0.18659	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.57436	0.4	5.02	-0.474	0.12108	.	0.573284	0.15133	N	0.278716	T	0.29684	0.0741	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.10753	-1.0616	10	0.37606	T	0.19	.	2.069	0.03609	0.4208:0.259:0.0705:0.2497	.	575;550	Q96JM4;C9JI57	LRIQ1_HUMAN;.	L	575;550;575	ENSP00000376910:I575L	ENSP00000256007:I575L	I	+	1	0	LRRIQ1	83974425	0.001000	0.12720	0.000000	0.03702	0.145000	0.21501	0.736000	0.26130	-0.255000	0.09486	-1.834000	0.00590	ATC		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165	
LTBP3	4054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	65318874	65318874	+	Splice_Site	SNP	G	G	A	rs200693646		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr11:65318874G>A	ENST00000301873.5	-	10	1888	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	LTBP3_ENST00000536982.1_Splice_Site_p.P166P|LTBP3_ENST00000532932.1_5'Flank|LTBP3_ENST00000322147.4_Splice_Site_p.P540P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	540					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)	p.P540P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CCAGCTCACCGGGGTAGGGCC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											44.0	39.0	41.0					11																	65318874		2201	4297	6498	SO:0001630	splice_region_variant	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1621+1C>T	11.37:g.65318874G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.579473	0.00879	.	.	ENSG00000168056	ENST00000526927	.	.	.	4.56	-9.12	0.00707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0425	0.01562	0.3569:0.2055:0.0933:0.3443	.	.	.	.	X	191	.	.	R	-	1	2	LTBP3	65075450	0.000000	0.05858	0.032000	0.17829	0.303000	0.27691	-5.036000	0.00158	-5.529000	0.00013	-3.566000	0.00030	CGA		0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1		NM_021070	Silent
MAP7D1	55700	broad.mit.edu	37	1	36643701	36643703	+	In_Frame_Del	DEL	AGA	AGA	-	rs3045695|rs141305015|rs200892098	byFrequency	TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:36643701_36643703delAGA	ENST00000373151.2	+	9	1823_1825	c.1607_1609delAGA	c.(1606-1611)gagaag>gag	p.K537del	MAP7D1_ENST00000373148.4_In_Frame_Del_p.K83del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.K500del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.K505del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	537	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTAACGAGAAGGAGTCAGC	0.719														323	0.0644968	0.003	0.0836	5008	,	,		9186	0.1964		0.0497	False		,,,				2504	0.0133																0										72,4170		17,38,2066						4.1	0.8		dbSNP_102	30	425,7795		48,329,3733	no	coding	MAP7D1	NM_018067.3		65,367,5799	A1A1,A1R,RR		5.1703,1.6973,3.9881				497,11965				SO:0001651	inframe_deletion	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1607_1609delAGA	1.37:g.36643701_36643703delAGA	ENSP00000362244:p.Lys537del	Somatic		WXS	Illumina GAIIx	Phase_I	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	ENST00000373151.2	37	CCDS30673.1																																																																																				0.719	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067	
MCF2L2	23101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183035915	183035915	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:183035915T>C	ENST00000328913.3	-	7	991	c.694A>G	c.(694-696)Agc>Ggc	p.S232G	MCF2L2_ENST00000447025.2_Missense_Mutation_p.S232G|MCF2L2_ENST00000414362.2_Missense_Mutation_p.S232G|MCF2L2_ENST00000473233.1_Missense_Mutation_p.S232G	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	232							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S232G(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GATAGCATGCTTCTGGGCAGC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											92.0	82.0	86.0					3																	183035915		2203	4300	6503	SO:0001583	missense	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.694A>G	3.37:g.183035915T>C	ENSP00000328118:p.Ser232Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	9.166	1.020004	0.19433	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.27	2.28	0.28536	.	0.298435	0.34932	N	0.003566	T	0.23014	0.0556	N	0.14661	0.345	0.21386	N	0.999702	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.12837	0.008;0.005;0.001	T	0.15925	-1.0420	10	0.54805	T	0.06	.	6.3758	0.21507	0.1437:0.6827:0.0:0.1736	.	232;232;232	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	G	232	ENSP00000328118:S232G;ENSP00000420070:S232G;ENSP00000388190:S232G;ENSP00000414131:S232G	ENSP00000328118:S232G	S	-	1	0	MCF2L2	184518609	0.993000	0.37304	0.141000	0.22245	0.010000	0.07245	1.690000	0.37711	0.138000	0.18790	-0.242000	0.12053	AGC		0.582	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078	
MLF2	8079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6859423	6859423	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr12:6859423C>T	ENST00000203630.5	-	6	963	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MLF2_ENST00000435120.1_Missense_Mutation_p.V107I|MLF2_ENST00000539187.1_Missense_Mutation_p.V107I|MLF2_ENST00000542154.1_Missense_Mutation_p.V107I|MLF2_ENST00000564181.1_5'Flank			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	107					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.V107I(1)		kidney(2)|large_intestine(3)|lung(4)	9						TAGGAGATGACAGTGGAAGAT	0.587																																																	1	Substitution - Missense(1)	kidney(1)											157.0	154.0	155.0					12																	6859423		2203	4300	6503	SO:0001583	missense	8079			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.319G>A	12.37:g.6859423C>T	ENSP00000203630:p.Val107Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000203630.5	37	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659926	0.96734	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187;ENST00000537126;ENST00000540710	.	.	.	5.57	5.57	0.84162	.	0.055338	0.64402	D	0.000001	T	0.61974	0.2390	L	0.55743	1.74	0.80722	D	1	P	0.46784	0.884	P	0.46110	0.504	T	0.62756	-0.6787	9	0.46703	T	0.11	-23.8357	19.5428	0.95281	0.0:1.0:0.0:0.0	.	107	Q15773	MLF2_HUMAN	I	107	.	ENSP00000203630:V107I	V	-	1	0	MLF2	6729684	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	7.346000	0.79347	2.610000	0.88304	0.561000	0.74099	GTC		0.587	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			
MOSPD3	64598	broad.mit.edu;hgsc.bcm.edu	37	7	100211116	100211116	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:100211116G>A	ENST00000393950.2	+	3	580	c.298G>A	c.(298-300)Gca>Aca	p.A100T	MOSPD3_ENST00000424091.2_Intron|MOSPD3_ENST00000223054.4_Missense_Mutation_p.A100T|MOSPD3_ENST00000379527.2_Missense_Mutation_p.A100T	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	100	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.A100T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCGCCATGTGGCACCCATTCC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											66.0	65.0	65.0					7																	100211116		2203	4300	6503	SO:0001583	missense	64598			BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.298G>A	7.37:g.100211116G>A	ENSP00000377522:p.Ala100Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183662	0.78677	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000393953	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	3.99	3.99	0.46301	PapD-like (2);	0.110120	0.38111	N	0.001814	T	0.69052	0.3068	L	0.39898	1.24	0.40698	D	0.982453	D	0.65815	0.995	D	0.66602	0.945	T	0.70274	-0.4917	10	0.46703	T	0.11	-18.1938	14.404	0.67068	0.0:0.0:1.0:0.0	.	100	O75425	MSPD3_HUMAN	T	100;100;100;100;86	ENSP00000223054:A100T;ENSP00000417276:A100T;ENSP00000368842:A100T;ENSP00000377522:A100T	ENSP00000223054:A100T	A	+	1	0	MOSPD3	100049052	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.064000	0.57506	2.526000	0.85167	0.462000	0.41574	GCA		0.572	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1		NM_023948	
MRC2	9902	broad.mit.edu	37	17	60743545	60743545	+	Missense_Mutation	SNP	C	C	T	rs572758323	byFrequency	TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:60743545C>T	ENST00000303375.5	+	3	1013	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	204	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.T204M(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCAGCACGGGCCGCGAG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18845	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	kidney(1)											58.0	43.0	48.0					17																	60743545		2203	4300	6503	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.611C>T	17.37:g.60743545C>T	ENSP00000307513:p.Thr204Met	Somatic		WXS	Illumina GAIIx	Phase_I	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740433	0.49045	.	.	ENSG00000011028	ENST00000303375	T	0.50548	0.74	4.67	4.67	0.58626	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.057093	0.64402	D	0.000001	T	0.34164	0.0888	L	0.33245	0.995	0.80722	D	1	P	0.45396	0.857	B	0.37047	0.24	T	0.21552	-1.0242	10	0.46703	T	0.11	-11.7791	12.225	0.54455	0.0:0.9184:0.0:0.0816	.	204	Q9UBG0	MRC2_HUMAN	M	204	ENSP00000307513:T204M	ENSP00000307513:T204M	T	+	2	0	MRC2	58097277	0.937000	0.31787	0.995000	0.50966	0.990000	0.78478	1.860000	0.39428	2.428000	0.82296	0.561000	0.74099	ACG		0.612	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			
MUC17	140453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100681776	100681776	+	Missense_Mutation	SNP	C	C	A	rs143338962		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:100681776C>A	ENST00000306151.4	+	3	7143	c.7079C>A	c.(7078-7080)aCa>aAa	p.T2360K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2360	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T2360K(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTTTCTACAACTCCTGCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											228.0	227.0	227.0					7																	100681776		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7079C>A	7.37:g.100681776C>A	ENSP00000302716:p.Thr2360Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.055	0.007906	0.07866	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	1.39	0.379	0.16213	.	.	.	.	.	T	0.02119	0.0066	L	0.32530	0.975	0.09310	N	1	P	0.47604	0.898	B	0.37346	0.247	T	0.49204	-0.8964	9	0.33141	T	0.24	.	5.4776	0.16704	0.0:0.7869:0.0:0.2131	.	2360	Q685J3	MUC17_HUMAN	K	2360	ENSP00000302716:T2360K	ENSP00000302716:T2360K	T	+	2	0	MUC17	100468496	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.052000	0.11865	-0.076000	0.12775	0.134000	0.15878	ACA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
MUT	4594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	49419319	49419319	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr6:49419319T>C	ENST00000274813.3	-	6	1319	c.1192A>G	c.(1192-1194)Act>Gct	p.T398A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	398					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.T398A(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTTTCACAGTTGGCAAACCC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											134.0	117.0	123.0					6																	49419319		2203	4300	6503	SO:0001583	missense	4594				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1192A>G	6.37:g.49419319T>C	ENSP00000274813:p.Thr398Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.776589	0.90195	.	.	ENSG00000146085	ENST00000274813	D	0.98400	-4.91	5.49	5.49	0.81192	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.96547	3.84	0.80722	D	1	D	0.63880	0.993	D	0.73380	0.98	D	0.98891	1.0773	10	0.87932	D	0	-11.3919	14.7668	0.69646	0.0:0.0:0.0:1.0	.	398	P22033	MUTA_HUMAN	A	398	ENSP00000274813:T398A	ENSP00000274813:T398A	T	-	1	0	MUT	49527278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.078000	0.62432	0.383000	0.25322	ACT		0.423	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	51259502	51259502	+	Silent	SNP	A	A	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:51259502A>C	ENST00000382041.3	-	5	553	c.363T>G	c.(361-363)ccT>ccG	p.P121P	NIN_ENST00000245441.5_Silent_p.P121P|NIN_ENST00000530997.2_Silent_p.P121P|NIN_ENST00000382043.4_Silent_p.P121P|NIN_ENST00000486200.1_5'UTR|NIN_ENST00000389868.3_Silent_p.P121P|NIN_ENST00000453196.1_Silent_p.P121P|NIN_ENST00000324330.9_Silent_p.P121P	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	121					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.P121P(2)|p.P127P(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCGTCACTTCAGGAAACTCCT	0.547			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - coding silent(3)	kidney(3)											101.0	83.0	89.0					14																	51259502		2203	4300	6503	SO:0001819	synonymous_variant	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.363T>G	14.37:g.51259502A>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	CCDS32079.1																																																																																				0.547	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946	
OR2T4	127074	broad.mit.edu;hgsc.bcm.edu	37	1	248525256	248525256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:248525256C>A	ENST00000366475.1	+	1	374	c.374C>A	c.(373-375)tCa>tAa	p.S125*		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S125*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATAAGATCTCAGCCCCTGAG	0.488																																																	1	Substitution - Nonsense(1)	kidney(1)											252.0	199.0	217.0					1																	248525256		2203	4300	6503	SO:0001587	stop_gained	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.374C>A	1.37:g.248525256C>A	ENSP00000355431:p.Ser125*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEZ8	Nonsense_Mutation	SNP	ENST00000366475.1	37	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773737	0.69992	.	.	ENSG00000196944	ENST00000366475	.	.	.	3.48	3.48	0.39840	.	0.000000	0.38959	N	0.001511	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6139	0.68534	0.0:1.0:0.0:0.0	.	.	.	.	X	125	.	ENSP00000355431:S125X	S	+	2	0	OR2T4	246591879	0.981000	0.34729	0.056000	0.19401	0.607000	0.37147	3.551000	0.53698	1.469000	0.48083	0.485000	0.47835	TCA		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2		NM_001004696	
OSBP2	23762	broad.mit.edu	37	22	31091334	31091334	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr22:31091334G>A	ENST00000332585.6	+	1	542	c.438G>A	c.(436-438)gcG>gcA	p.A146A	OSBP2_ENST00000446658.2_Silent_p.A146A|OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000407373.1_Intron|OSBP2_ENST00000382310.3_Silent_p.A146A	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	146					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.A146A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGCTGCCAGCGTTAAAGCCCC	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	36.0	34.0					22																	31091334		2017	4165	6182	SO:0001819	synonymous_variant	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.438G>A	22.37:g.31091334G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	CCDS43002.1																																																																																				0.652	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2		NM_030758	
PCBP1	5093	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	70315104	70315104	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr2:70315104G>T	ENST00000303577.5	+	1	520	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	PCBP1-AS1_ENST00000449178.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000596665.1_RNA|PCBP1-AS1_ENST00000416395.1_RNA|PCBP1-AS1_ENST00000610168.1_RNA|PCBP1-AS1_ENST00000425601.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000432604.1_RNA|PCBP1-AS1_ENST00000413069.1_RNA|PCBP1-AS1_ENST00000420309.1_RNA|PCBP1-AS1_ENST00000415742.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000437456.1_RNA|PCBP1-AS1_ENST00000421843.1_RNA|PCBP1-AS1_ENST00000366234.3_RNA|PCBP1-AS1_ENST00000421255.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000418308.1_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000413791.1_RNA|PCBP1-AS1_ENST00000434781.1_RNA|PCBP1-AS1_ENST00000458698.2_RNA|PCBP1-AS1_ENST00000458686.1_RNA|PCBP1-AS1_ENST00000595459.1_RNA|PCBP1-AS1_ENST00000601396.1_RNA|PCBP1-AS1_ENST00000442040.1_RNA|PCBP1-AS1_ENST00000596573.1_RNA|PCBP1-AS1_ENST00000415222.1_RNA|PCBP1-AS1_ENST00000422515.1_RNA|PCBP1-AS1_ENST00000599673.1_RNA|PCBP1-AS1_ENST00000411429.1_RNA|PCBP1-AS1_ENST00000439892.1_RNA|PCBP1-AS1_ENST00000419963.1_RNA|PCBP1-AS1_ENST00000594548.1_RNA|PCBP1-AS1_ENST00000415060.2_RNA|PCBP1-AS1_ENST00000437019.1_RNA|PCBP1-AS1_ENST00000429599.2_RNA|PCBP1-AS1_ENST00000416068.1_RNA|AC016700.2_ENST00000455541.1_lincRNA|PCBP1-AS1_ENST00000425333.1_RNA|PCBP1-AS1_ENST00000457770.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000444410.1_RNA|PCBP1-AS1_ENST00000609075.1_RNA|PCBP1-AS1_ENST00000456161.1_RNA|PCBP1-AS1_ENST00000444320.1_RNA|PCBP1-AS1_ENST00000439670.2_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	77					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D77Y(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TATGATCATCGACAAGCTGGA	0.597																																					Colon(85;1146 1307 3484 18706 25380)												1	Substitution - Missense(1)	kidney(1)											81.0	92.0	89.0					2																	70315104		2203	4300	6503	SO:0001583	missense	5093				CCDS1898.1	2p13-p12	2013-07-16	2001-11-28		ENSG00000169564	ENSG00000169564			8647	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein E1"""	601209	"""poly(rC)-binding protein 1"""			8833161	Standard	NM_006196		Approved	HNRPE1, hnRNP-E1, HNRPX, hnRNP-X	uc002sgf.3	Q15365	OTTHUMG00000129645	ENST00000303577.5:c.229G>T	2.37:g.70315104G>T	ENSP00000305556:p.Asp77Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q13157|Q14975	Missense_Mutation	SNP	ENST00000303577.5	37	CCDS1898.1	.	.	.	.	.	.	.	.	.	.	G	0.493	-0.874326	0.02550	.	.	ENSG00000169564	ENST00000303577	T	0.47177	0.85	4.16	4.16	0.48862	K Homology (1);	0.060909	0.64402	U	0.000005	T	0.48786	0.1519	M	0.74467	2.265	0.50313	D	0.999865	B	0.19445	0.036	B	0.20767	0.031	T	0.48399	-0.9039	10	0.33141	T	0.24	.	14.8254	0.70107	0.0:0.0:1.0:0.0	.	77	Q15365	PCBP1_HUMAN	Y	77	ENSP00000305556:D77Y	ENSP00000305556:D77Y	D	+	1	0	PCBP1	70168608	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.629000	0.54266	2.623000	0.88846	0.585000	0.79938	GAC		0.597	PCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251844.1		NM_006196	
PDCD6IP	10015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33905544	33905544	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:33905544C>T	ENST00000307296.3	+	16	2544	c.2167C>T	c.(2167-2169)Cct>Tct	p.P723S	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.P728S			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	723	Interaction with EIAV p9.|Pro-rich.|Self-association.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.P723S(1)		central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCCTTCAATTCCTACACCTGC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											86.0	82.0	83.0					3																	33905544		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2167C>T	3.37:g.33905544C>T	ENSP00000307387:p.Pro723Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659998	0.47572	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.20598	2.06;2.06	5.95	5.95	0.96441	.	0.165843	0.53938	D	0.000057	T	0.17195	0.0413	L	0.28344	0.845	0.37712	D	0.924602	B;B;B	0.17667	0.023;0.007;0.007	B;B;B	0.14578	0.011;0.01;0.006	T	0.13575	-1.0504	10	0.09590	T	0.72	-14.1873	20.3802	0.98930	0.0:1.0:0.0:0.0	.	504;728;723	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	S	723;728	ENSP00000307387:P723S;ENSP00000411825:P728S	ENSP00000307387:P723S	P	+	1	0	PDCD6IP	33880548	0.997000	0.39634	0.943000	0.38184	0.980000	0.70556	4.556000	0.60775	2.822000	0.97130	0.563000	0.77884	CCT		0.423	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			
PDS5A	23244	broad.mit.edu;hgsc.bcm.edu	37	4	39851255	39851255	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:39851255A>G	ENST00000303538.8	-	27	3643	c.3104T>C	c.(3103-3105)cTt>cCt	p.L1035P		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)									p.L1035P(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TAAAACTTCAAGCATGAACCA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											99.0	89.0	92.0					4																	39851255		1846	4110	5956	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3104T>C	4.37:g.39851255A>G	ENSP00000303427:p.Leu1035Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633180	0.87660	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	Armadillo-like helical (1);	0.123149	0.56097	D	0.000029	T	0.78786	0.4338	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79780	-0.1659	8	.	.	.	-12.0054	15.7677	0.78141	1.0:0.0:0.0:0.0	.	1035	Q29RF7	PDS5A_HUMAN	P	1035	.	.	L	-	2	0	PDS5A	39527650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.224000	0.95209	2.112000	0.64535	0.533000	0.62120	CTT		0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1		NM_015200	
PLCB2	5330	broad.mit.edu;hgsc.bcm.edu	37	15	40594520	40594520	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:40594520T>A	ENST00000260402.3	-	5	652	c.403A>T	c.(403-405)Aaa>Taa	p.K135*	PLCB2_ENST00000456256.2_Nonsense_Mutation_p.K135*|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Nonsense_Mutation_p.K135*|PLCB2_ENST00000557821.1_Nonsense_Mutation_p.K135*	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	135					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.K135*(2)		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)		AGCGGATGTTTGACTAGGGCC	0.647																																																	2	Substitution - Nonsense(2)	kidney(2)											37.0	44.0	42.0					15																	40594520		2134	4228	6362	SO:0001587	stop_gained	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.403A>T	15.37:g.40594520T>A	ENSP00000260402:p.Lys135*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6J2|B9EGH5	Nonsense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.487740	0.84854	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	.	.	.	4.46	4.46	0.54185	.	0.265687	0.38164	N	0.001800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2176	0.48835	0.0:0.0:0.1643:0.8357	.	.	.	.	X	135	.	ENSP00000260402:K135X	K	-	1	0	PLCB2	38381812	0.620000	0.27068	1.000000	0.80357	0.483000	0.33249	1.377000	0.34317	2.008000	0.58898	0.459000	0.35465	AAA		0.647	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			
POU4F2	5458	broad.mit.edu	37	4	147560212	147560212	+	5'UTR	SNP	C	C	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:147560212C>A	ENST00000281321.3	+	0	168				AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2						axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CCAGCCCCGGCTGGCCCGGCA	0.692																																																	0																																										SO:0001623	5_prime_UTR_variant	5458			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.-81C>A	4.37:g.147560212C>A		Somatic		WXS	Illumina GAIIx	Phase_I	B1PJR6|B2RC84|Q13883|Q14987	Translation_Start_Site	SNP	ENST00000281321.3	37	CCDS34074.1																																																																																				0.692	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1		NM_004575	
PRDM13	59336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	100062550	100062550	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr6:100062550A>G	ENST00000369215.4	+	4	2344	c.2039A>G	c.(2038-2040)aAg>aGg	p.K680R		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	680					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.K680R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGGGATCCCAAGAGCGACGAC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											24.0	28.0	27.0					6																	100062550		1766	3868	5634	SO:0001583	missense	59336			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2039A>G	6.37:g.100062550A>G	ENSP00000358217:p.Lys680Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600258	0.87055	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06608	3.28;3.29	5.8	5.8	0.92144	.	0.000000	0.43747	D	0.000536	T	0.07234	0.0183	L	0.32530	0.975	0.48452	D	0.999654	D	0.76494	0.999	D	0.80764	0.994	T	0.38222	-0.9671	10	0.08179	T	0.78	-20.1023	16.1461	0.81569	1.0:0.0:0.0:0.0	.	680	Q9H4Q3	PRD13_HUMAN	R	680;690	ENSP00000358217:K680R;ENSP00000358216:K690R	ENSP00000358216:K690R	K	+	2	0	PRDM13	100169271	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.742000	0.74843	2.219000	0.72066	0.533000	0.62120	AAG		0.687	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			
PTBP2	58155	broad.mit.edu;ucsc.edu	37	1	97236294	97236294	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:97236294G>C	ENST00000426398.2	+	5	362	c.319G>C	c.(319-321)Gct>Cct	p.A107P	PTBP2_ENST00000541987.1_Missense_Mutation_p.A76P|PTBP2_ENST00000370198.1_Missense_Mutation_p.A107P|PTBP2_ENST00000394184.3_Missense_Mutation_p.A118P|PTBP2_ENST00000609116.1_Missense_Mutation_p.A107P|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.A107P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	107	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A107P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CGAGGAAGCAGCTATTACTAT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											92.0	91.0	91.0					1																	97236294		2203	4298	6501	SO:0001583	missense	58155			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.319G>C	1.37:g.97236294G>C	ENSP00000412788:p.Ala107Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	CCDS754.1	.	.	.	.	.	.	.	.	.	.	G	33	5.208126	0.95033	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;D	0.91068	-0.88;-0.84;-0.85;-0.88;-0.86;-2.78	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.96821	0.8962	H	0.95151	3.63	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.996;1.0;0.999;0.999	D;D;D;D;D;D;D	0.87578	0.995;0.998;0.996;0.991;0.991;0.991;0.997	D	0.97912	1.0309	10	0.87932	D	0	-3.4771	18.7903	0.91971	0.0:0.0:1.0:0.0	.	115;118;107;107;107;107;129	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	P	107;107;107;107;118;76;97	ENSP00000236228:A107P;ENSP00000359217:A107P;ENSP00000359216:A107P;ENSP00000412788:A107P;ENSP00000377738:A118P;ENSP00000442475:A76P	ENSP00000236228:A107P	A	+	1	0	PTBP2	97008882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.750000	0.98875	2.430000	0.82344	0.655000	0.94253	GCT		0.308	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			
RABGAP1	23637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125760994	125760994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr9:125760994G>A	ENST00000373647.4	+	10	1457	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	441					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)	p.W369*(1)|p.W441*(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GATTATTCTGGCCCTTCAGCA	0.373																																																	2	Substitution - Nonsense(2)	kidney(2)											94.0	97.0	96.0					9																	125760994		2203	4300	6503	SO:0001587	stop_gained	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1323G>A	9.37:g.125760994G>A	ENSP00000362751:p.Trp441*	Somatic		WXS	Illumina HiSeq	Phase_I	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	ENST00000373647.4	37	CCDS6848.2	.	.	.	.	.	.	.	.	.	.	G	38	6.953348	0.97960	.	.	ENSG00000011454	ENST00000373647	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0202	17.5349	0.87827	0.0:0.0:1.0:0.0	.	.	.	.	X	441	.	ENSP00000362751:W441X	W	+	3	0	RABGAP1	124800815	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.202000	0.95026	2.349000	0.79799	0.655000	0.94253	TGG		0.373	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3		NM_012197	
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36096963	36096963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr14:36096963G>A	ENST00000389698.3	-	33	5062	c.4672C>T	c.(4672-4674)Cag>Tag	p.Q1558*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q1558*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q1571*|RALGAPA1_ENST00000258840.6_Nonsense_Mutation_p.Q1605*	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1558	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.Q1558*(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						acaaagaactggaTATTTGGA	0.413																																																	2	Substitution - Nonsense(2)	kidney(2)											54.0	51.0	52.0					14																	36096963		2203	4300	6503	SO:0001587	stop_gained	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4672C>T	14.37:g.36096963G>A	ENSP00000374348:p.Gln1558*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Nonsense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	48	14.037515	0.99776	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.1932	19.8741	0.96863	0.0:0.0:1.0:0.0	.	.	.	.	X	1558;1558;1558;1605;196;1571;1605	.	ENSP00000258840:Q1605X	Q	-	1	0	RALGAPA1	35166714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.761000	0.94854	0.655000	0.94253	CAG		0.413	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	
RBM33	155435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	155537939	155537939	+	Silent	SNP	T	T	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:155537939T>G	ENST00000401878.3	+	14	2820	c.2622T>G	c.(2620-2622)ctT>ctG	p.L874L	RBM33_ENST00000341148.3_5'Flank	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	874							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L874L(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGAACAGACTTCTTGTTAAAA	0.463																																																	2	Substitution - coding silent(2)	kidney(2)											55.0	48.0	50.0					7																	155537939		2203	4300	6503	SO:0001819	synonymous_variant	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2622T>G	7.37:g.155537939T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	T	7.540	0.660408	0.14645	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.33	0.245	0.15512	.	.	.	.	.	T	0.53110	0.1776	.	.	.	0.46317	D	0.998989	.	.	.	.	.	.	T	0.40040	-0.9584	4	.	.	.	.	6.6322	0.22863	0.0:0.2747:0.3623:0.363	.	.	.	.	C	646	.	.	F	+	2	0	RBM33	155230700	0.915000	0.31059	0.997000	0.53966	0.988000	0.76386	-0.110000	0.10824	-0.187000	0.10516	0.533000	0.62120	TTC		0.463	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3		NM_001008408	
RTKN2	219790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	63958099	63958099	+	Silent	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr10:63958099T>C	ENST00000373789.3	-	12	1494	c.1398A>G	c.(1396-1398)ttA>ttG	p.L466L	RTKN2_ENST00000395265.1_Silent_p.L487L|RTKN2_ENST00000315289.2_Silent_p.L268L	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	466					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.L466L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAGGAGGTGGTAAGGATTCTT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	116.0	116.0					10																	63958099		2203	4300	6503	SO:0001819	synonymous_variant	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1398A>G	10.37:g.63958099T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																				0.383	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1		NM_145307	
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33988670	33988670	+	Silent	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr15:33988670T>C	ENST00000389232.4	+	39	6182	c.6112T>C	c.(6112-6114)Ttg>Ctg	p.L2038L	RYR3_ENST00000415757.3_Silent_p.L2038L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2038	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L2038L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGAGGAGTTGCTCATGAT	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	103.0	101.0					15																	33988670		2090	4223	6313	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6112T>C	15.37:g.33988670T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			
SDK1	221935	broad.mit.edu;hgsc.bcm.edu	37	7	4011189	4011189	+	Silent	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:4011189G>T	ENST00000404826.2	+	12	1945	c.1806G>T	c.(1804-1806)cgG>cgT	p.R602R	SDK1_ENST00000389531.3_Silent_p.R602R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	602	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R602R(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATGACCCCCGGGTTTCACTCC	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	58.0	62.0					7																	4011189		2203	4300	6503	SO:0001819	synonymous_variant	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1806G>T	7.37:g.4011189G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	CCDS34590.1																																																																																				0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47098412	47098413	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	-	-	-	AT	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr3:47098412_47098413insAT	ENST00000409792.3	-	15	6903_6904	c.6861_6862insAT	c.(6859-6864)tctcctfs	p.P2288fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2288	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GACTGTGCAGGAGAGTACTGCT	0.475			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0																																										SO:0001589	frameshift_variant	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6861_6862insAT	3.37:g.47098412_47098413insAT	ENSP00000386759:p.Pro2288fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	ENST00000409792.3	37	CCDS2749.2																																																																																				0.475	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SLC12A9	56996	broad.mit.edu	37	7	100459452	100459452	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:100459452G>C	ENST00000354161.3	+	12	1755	c.1630G>C	c.(1630-1632)Gcc>Ccc	p.A544P	SLC12A9_ENST00000415287.1_Missense_Mutation_p.A455P|SLC12A9_ENST00000540482.1_Missense_Mutation_p.A544P|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A455P|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A544P	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	544					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.A544P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCCGGGGCGCCCTGCCTCT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											31.0	37.0	35.0					7																	100459452		2203	4300	6503	SO:0001583	missense	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1630G>C	7.37:g.100459452G>C	ENSP00000275730:p.Ala544Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730854	0.48939	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000539308	D;D;D;D;D	0.91351	-2.56;-2.55;-2.18;-2.18;-2.83	5.56	2.67	0.31697	.	0.380748	0.29113	N	0.013107	D	0.88526	0.6460	L	0.27053	0.805	0.09310	N	0.999991	D;B	0.63046	0.992;0.279	D;B	0.64237	0.923;0.346	T	0.78585	-0.2147	10	0.49607	T	0.09	.	4.353	0.11165	0.17:0.0:0.487:0.343	.	455;544	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	P	544;544;455;455;544;170	ENSP00000443702:A544P;ENSP00000408301:A544P;ENSP00000275729:A455P;ENSP00000413796:A455P;ENSP00000275730:A544P	ENSP00000275729:A455P	A	+	1	0	SLC12A9	100297388	0.064000	0.20934	0.497000	0.27552	0.993000	0.82548	0.596000	0.24044	0.651000	0.30788	0.478000	0.44815	GCC		0.657	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1		NM_020246	
SLC38A10	124565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79220707	79220707	+	Silent	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:79220707G>A	ENST00000374759.3	-	15	2603	c.2220C>T	c.(2218-2220)gaC>gaT	p.D740D		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	740					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D740D(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TATCCTCCTCGTCCTCCTGCC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	65.0	61.0					17																	79220707		2086	4205	6291	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2220C>T	17.37:g.79220707G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.647	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570	
SND1	27044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127341301	127341301	+	Silent	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr7:127341301T>C	ENST00000354725.3	+	5	707	c.513T>C	c.(511-513)caT>caC	p.H171H		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	171					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.H171H(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACGGTTCACATACTATCCGGG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											157.0	140.0	145.0					7																	127341301		2203	4300	6503	SO:0001819	synonymous_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.513T>C	7.37:g.127341301T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	CCDS34747.1																																																																																				0.483	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1		NM_014390	
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16256120	16256120	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr1:16256120G>A	ENST00000375759.3	+	11	3589	c.3385G>A	c.(3385-3387)Gtt>Att	p.V1129I		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1129					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.V1129I(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGAGAAGACGTTAGGAAAAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											38.0	39.0	38.0					1																	16256120		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.3385G>A	1.37:g.16256120G>A	ENSP00000364912:p.Val1129Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	0.978	-0.698094	0.03279	.	.	ENSG00000065526	ENST00000375759	T	0.08193	3.12	5.2	3.03	0.35002	.	.	.	.	.	T	0.03263	0.0095	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43669	-0.9377	9	0.30078	T	0.28	2.9348	3.1774	0.06573	0.4964:0.2202:0.2834:0.0	.	1129	Q96T58	MINT_HUMAN	I	1129	ENSP00000364912:V1129I	ENSP00000364912:V1129I	V	+	1	0	SPEN	16128707	0.000000	0.05858	0.153000	0.22517	0.472000	0.32918	0.072000	0.14617	0.566000	0.29273	0.650000	0.86243	GTT		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
SPIRE2	84501	broad.mit.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219|rs377330880	byFrequency	TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(457-459)gag>GAGgag	p.153_153E>EE	SPIRE2_ENST00000564878.1_3'UTR|SPIRE2_ENST00000393062.2_In_Frame_Ins_p.153_153E>EE	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	153	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728														371	0.0740815	0.0038	0.0245	5008	,	,		12494	0.2679		0.0606	False		,,,				2504	0.0184																0																																										SO:0001652	inframe_insertion	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.469_471dupGAG	16.37:g.89916886_89916888dupGAG	ENSP00000367494:p.Glu157dup	Somatic		WXS	Illumina GAIIx	Phase_I	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	In_Frame_Ins	INS	ENST00000378247.3	37	CCDS32516.1																																																																																				0.728	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1		XM_047462	
TPSAB1	7177	broad.mit.edu;hgsc.bcm.edu	37	16	1291647	1291647	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr16:1291647T>C	ENST00000338844.3	+	4	479	c.446T>C	c.(445-447)tTc>tCc	p.F149S	TPSAB1_ENST00000461509.2_Missense_Mutation_p.F156S	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	149	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.F149S(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGAGACCTTCCCCCCGGGG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											45.0	38.0	40.0					16																	1291647		2199	4298	6497	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.446T>C	16.37:g.1291647T>C	ENSP00000343577:p.Phe149Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022238	0.35701	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88124	-2.34;-2.34	3.74	3.74	0.42951	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45361	D	0.000373	D	0.89670	0.6782	L	0.42686	1.345	0.45066	D	0.99808	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89962	0.4087	10	0.87932	D	0	.	10.7423	0.46160	0.0:0.0:0.0:1.0	.	140;149	Q15661-2;Q15661	.;TRYB1_HUMAN	S	149;156	ENSP00000343577:F149S;ENSP00000418247:F156S	ENSP00000343577:F149S	F	+	2	0	TPSAB1	1231648	0.000000	0.05858	0.996000	0.52242	0.680000	0.39746	0.561000	0.23515	1.483000	0.48342	0.392000	0.25879	TTC		0.677	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1		NM_003294	
TRAF7	84231	broad.mit.edu;ucsc.edu	37	16	2225568	2225568	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr16:2225568G>A	ENST00000326181.6	+	17	1703	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	524					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R524Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACTGGGTGCGGGCCCTGGTG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											67.0	67.0	67.0					16																	2225568		2198	4300	6498	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1571G>A	16.37:g.2225568G>A	ENSP00000318944:p.Arg524Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H073	Missense_Mutation	SNP	ENST00000326181.6	37	CCDS10461.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114223	0.94339	.	.	ENSG00000131653	ENST00000326181	T	0.62232	0.04	4.49	3.53	0.40419	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	0.77883	0.4197	M	0.82132	2.575	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.79612	-0.1731	10	0.52906	T	0.07	-36.0301	12.0919	0.53730	0.0845:0.0:0.9155:0.0	.	524	Q6Q0C0	TRAF7_HUMAN	Q	524	ENSP00000318944:R524Q	ENSP00000318944:R524Q	R	+	2	0	TRAF7	2165569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.704000	0.91351	1.254000	0.44035	0.561000	0.74099	CGG		0.632	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1		NM_032271	
TRIM5	85363	broad.mit.edu;hgsc.bcm.edu	37	11	5686705	5686705	+	Intron	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr11:5686705G>A	ENST00000380034.3	-	8	1152				TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_3'UTR	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		ATAAAGACTTGAGAGAAAACT	0.353																																																	0													61.0	67.0	65.0					11																	5686705		2164	4290	6454	SO:0001627	intron_variant	117852			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.896-80C>T	11.37:g.5686705G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	RNA	SNP	ENST00000380034.3	37	CCDS31393.1																																																																																				0.353	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3		NM_033034	
TTC29	83894	broad.mit.edu;hgsc.bcm.edu	37	4	147830304	147830304	+	Missense_Mutation	SNP	C	C	T	rs372436413		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:147830304C>T	ENST00000325106.4	-	5	500	c.274G>A	c.(274-276)Gat>Aat	p.D92N	TTC29_ENST00000513335.1_Missense_Mutation_p.D118N|TTC29_ENST00000398886.4_Missense_Mutation_p.D118N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	92								p.D92N(2)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCAGGGCATCCCACCGCTCC	0.527																																																	2	Substitution - Missense(2)	kidney(1)|skin(1)						C	ASN/ASP	1,3849		0,1,1924	66.0	67.0	67.0		274	3.4	1.0	4		67	0,8272		0,0,4136	no	missense	TTC29	NM_031956.2	23	0,1,6060	TT,TC,CC		0.0,0.026,0.0082	benign	92/476	147830304	1,12121	1925	4136	6061	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.274G>A	4.37:g.147830304C>T	ENSP00000316740:p.Asp92Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815959	0.32145	2.6E-4	0.0	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	5.23	3.39	0.38822	.	0.690269	0.14722	N	0.302249	T	0.08358	0.0208	N	0.17082	0.46	0.37016	D	0.895967	B;B;B	0.19583	0.013;0.037;0.013	B;B;B	0.18561	0.007;0.022;0.007	T	0.23332	-1.0191	10	0.12430	T	0.62	-6.6917	5.6533	0.17629	0.0:0.642:0.2019:0.1561	.	92;118;92	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	118;118;92;92;92	ENSP00000423505:D118N;ENSP00000381861:D118N;ENSP00000316740:D92N;ENSP00000425778:D92N	ENSP00000316740:D92N	D	-	1	0	TTC29	148049754	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	1.661000	0.37408	2.596000	0.87737	0.655000	0.94253	GAT		0.527	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_031956	
TUBGCP6	85378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50660936	50660936	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr22:50660936G>A	ENST00000248846.5	-	14	2460	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.R786*			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	786					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.R786*(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCTCCAGTCGGTGCCTCTGG	0.572																																																	1	Substitution - Nonsense(1)	kidney(1)											76.0	69.0	71.0					22																	50660936		2203	4300	6503	SO:0001587	stop_gained	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2356C>T	22.37:g.50660936G>A	ENSP00000248846:p.Arg786*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	43	10.059809	0.99327	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	4.9	-0.104	0.13605	.	0.428655	0.25750	N	0.028555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.95	0.64111	0.0:0.0:0.4398:0.5602	.	.	.	.	X	786	.	ENSP00000248846:R786X	R	-	1	2	TUBGCP6	49003063	0.765000	0.28485	0.229000	0.23960	0.823000	0.46562	0.517000	0.22832	-0.283000	0.09115	0.561000	0.74099	CGA		0.572	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461	
UGT2B7	7364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	69962460	69962460	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr4:69962460T>G	ENST00000508661.1	+	1	249	c.222T>G	c.(220-222)atT>atG	p.I74M	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000305231.7_Missense_Mutation_p.I74M			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	74					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.I74M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCTTAAAATTGAAATTTATC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											62.0	68.0	66.0					4																	69962460		2203	4299	6502	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.222T>G	4.37:g.69962460T>G	ENSP00000427659:p.Ile74Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37		.	.	.	.	.	.	.	.	.	.	T	8.242	0.807034	0.16467	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60040	0.22;0.22	2.54	1.25	0.21368	.	0.401019	0.22584	U	0.058174	T	0.39091	0.1065	N	0.11756	0.17	0.09310	N	1	P;B	0.34629	0.46;0.008	B;B	0.42738	0.396;0.045	T	0.29150	-1.0021	9	.	.	.	.	6.7554	0.23510	0.0:0.0:0.2409:0.7591	.	74;74	E9PBP8;P16662	.;UD2B7_HUMAN	M	74	ENSP00000304811:I74M;ENSP00000427659:I74M	.	I	+	3	3	UGT2B7	69997049	0.750000	0.28316	0.008000	0.14137	0.005000	0.04900	0.849000	0.27723	0.189000	0.20188	0.260000	0.18958	ATT		0.378	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1		NM_001074	
RNF169	254225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	74555233	74555233	+	IGR	SNP	A	A	G			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr11:74555233A>G	ENST00000299563.4	+	0	7823				XRRA1_ENST00000321448.8_Missense_Mutation_p.Y392H|XRRA1_ENST00000527087.1_Missense_Mutation_p.Y580H|XRRA1_ENST00000340360.6_Missense_Mutation_p.Y667H|RN7SL239P_ENST00000490061.2_RNA	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)	p.Y667H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TTGTGAACATAGGGTTTCTGA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											275.0	275.0	275.0					11																	74555233		1985	4174	6159	SO:0001628	intergenic_variant	143570			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74555233A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.315944	0.40996	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.66815	0.15;0.9;-0.23	5.0	3.88	0.44766	.	0.496883	0.20221	N	0.096685	T	0.78489	0.4291	M	0.74881	2.28	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.994;1.0;1.0;0.994;0.999;0.999;0.999	P;D;D;D;D;D;D	0.74674	0.832;0.984;0.97;0.933;0.919;0.919;0.948	T	0.68284	-0.5449	10	0.87932	D	0	-3.2182	8.8575	0.35236	0.911:0.0:0.089:0.0	.	667;269;223;580;611;277;653	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	H	667;392;653;611;580	ENSP00000339918:Y667H;ENSP00000319303:Y392H;ENSP00000435838:Y580H	ENSP00000319303:Y392H	Y	-	1	0	XRRA1	74232881	0.849000	0.29639	0.054000	0.19295	0.279000	0.26890	3.762000	0.55250	1.050000	0.40346	0.402000	0.26972	TAT		0.512	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886	
ZADH2	284273	broad.mit.edu	37	18	72920998	72920999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr18:72920998_72920999insC	ENST00000322342.3	-	1	304_305	c.15_16insG	c.(13-18)gtgcccfs	p.P6fs	TSHZ1_ENST00000322038.5_5'Flank|TSHZ1_ENST00000580243.1_5'Flank	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	6						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCCCCGGTGGGCACCAGCCGCA	0.738																																																	0										92,3548		12,68,1740						-4.1	0.1			9	169,7117		17,135,3491	no	frameshift	ZADH2	NM_175907.4		29,203,5231	A1A1,A1R,RR		2.3195,2.5275,2.3888				261,10665				SO:0001589	frameshift_variant	284273			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.16dupG	18.37:g.72920999_72920999dupC	ENSP00000323678:p.Pro6fs	Somatic		WXS	Illumina GAIIx	Phase_I	A8KA15|B4DZ91	Frame_Shift_Ins	INS	ENST00000322342.3	37	CCDS12008.1																																																																																				0.738	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1		NM_175907	
ZMYND8	23613	broad.mit.edu;hgsc.bcm.edu	37	20	45927547	45927547	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr20:45927547G>T	ENST00000311275.7	-	4	572	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ZMYND8_ENST00000471951.2_Missense_Mutation_p.P127T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P134T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P102T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P127T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P102T|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P107T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.P102T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P107T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P107T|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P102T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P127T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P82T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	107					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.P127T(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TAAACCCGGGGACAGAGCTCA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											124.0	98.0	107.0					20																	45927547		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.319C>A	20.37:g.45927547G>T	ENSP00000312237:p.Pro107Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.048695|5.048695	0.93740|0.93740	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04|.	6.11|6.11	6.11|6.11	0.99139|0.99139	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73016|0.73016	0.3533|0.3533	L|L	0.54863|0.54863	1.705|1.705	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.975;1.0;0.999;0.975;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.998;0.999;1.0;1.0;0.999;1.0;0.969;1.0;0.997;0.938;1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999|.	T|T	0.66724|0.66724	-0.5851|-0.5851	10|5	0.72032|.	D|.	0.01|.	-9.5593|-9.5593	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102;134;102;102;127;101;127;107;102;127;127;107;82;102;102;127;102;107|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	T|Y	102;107;102;107;127;127;107;134;107;82;127;102;102;82|33	ENSP00000354166:P102T;ENSP00000312237:P107T;ENSP00000392964:P102T;ENSP00000262975:P107T;ENSP00000420095:P127T;ENSP00000335537:P127T;ENSP00000379577:P107T;ENSP00000439800:P134T;ENSP00000348246:P107T;ENSP00000396725:P82T;ENSP00000418210:P127T;ENSP00000361093:P102T;ENSP00000443086:P102T;ENSP00000413727:P82T|.	ENSP00000262975:P107T|.	P|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45360954|45360954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	9.869000|9.869000	0.99810|0.99810	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CCC|TCC		0.507	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2		NM_183047	
ZZEF1	23140	broad.mit.edu	37	17	3984690	3984690	+	Missense_Mutation	SNP	C	C	T	rs559335570		TCGA-BP-4983-01A-01D-1462-08	TCGA-BP-4983-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beaafdf9-d5c0-4bc4-b08b-833c3c91c9ae	b50f962c-326f-4b05-a0a2-76015c7e84b2	g.chr17:3984690C>T	ENST00000381638.2	-	18	2933	c.2809G>A	c.(2809-2811)Gtc>Atc	p.V937I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	937							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.V937I(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCAACAGAGACGAGAGTGTCC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17457	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											138.0	122.0	127.0					17																	3984690		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2809G>A	17.37:g.3984690C>T	ENSP00000371051:p.Val937Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719868	0.48728	.	.	ENSG00000074755	ENST00000381638	T	0.19250	2.16	5.36	3.39	0.38822	.	0.215622	0.40554	N	0.001063	T	0.11110	0.0271	N	0.08118	0	0.19775	N	0.999957	B;B	0.12013	0.005;0.003	B;B	0.01281	0.0;0.0	T	0.22977	-1.0201	10	0.87932	D	0	-4.0113	10.367	0.44030	0.0736:0.1356:0.7908:0.0	.	938;937	O43149-3;O43149	.;ZZEF1_HUMAN	I	937	ENSP00000371051:V937I	ENSP00000371051:V937I	V	-	1	0	ZZEF1	3931439	1.000000	0.71417	0.594000	0.28785	0.789000	0.44602	4.945000	0.63568	0.649000	0.30751	-0.965000	0.02619	GTC		0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
