#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
AKAP9	10142	hgsc.bcm.edu	37	7	91652178	91652179	+	In_Frame_Ins	INS	-	-	AAC	rs111673064|rs10644111|rs397825978|rs34756483	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:91652178_91652179insAAC	ENST00000359028.2	+	15	4264_4265	c.4039_4040insAAC	c.(4039-4041)aaa>aAACaa	p.1347_1348insQ	AKAP9_ENST00000356239.3_In_Frame_Ins_p.1335_1336insQ|AKAP9_ENST00000358100.2_In_Frame_Ins_p.1347_1348insQ			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1347			K -> KQ. {ECO:0000269|PubMed:10202149}.		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K1335_L1336insQ(1)|p.K1347_L1348insQ(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAAAAACTAAACTTGAAGAA	0.312			T	BRAF	papillary thyroid									2127	0.42472	0.6657	0.3689	5008	,	,		15358	0.1825		0.3867	False		,,,				2504	0.4274							Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Insertion - In frame(2)	ovary(2)							,	2670,1594		824,1022,286					,	2.2	0.0		dbSNP_119	46	3327,4927		650,2027,1450	no	coding,coding	AKAP9	NM_147185.2,NM_005751.4	,	1474,3049,1736	A1A1,A1R,RR		40.3077,37.3827,47.907	,	,		5997,6521				SO:0001652	inframe_insertion	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4040_4042dupAAC	7.37:g.91652179_91652181dupAAC	ENSP00000351922:p.Lys1347_Leu1348insGln	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	In_Frame_Ins	INS	ENST00000359028.2	37																																																																																					0.312	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
BCHE	590	hgsc.bcm.edu;ucsc.edu	37	3	165547909	165547915	+	Frame_Shift_Del	DEL	CTTCATT	CTTCATT	-			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	CTTCATT	CTTCATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:165547909_165547915delCTTCATT	ENST00000264381.3	-	2	1073_1079	c.907_913delAATGAAG	c.(907-915)aatgaagcafs	p.NEA303fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	303					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACAACAAATGCTTCATTCAGAAGAATT	0.401																																																	0																																										SO:0001589	frameshift_variant	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.907_913delAATGAAG	3.37:g.165547909_165547915delCTTCATT	ENSP00000264381:p.Asn303fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	CCDS3198.1																																																																																				0.401	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			
L3HYPDH	112849	hgsc.bcm.edu;ucsc.edu	37	14	59939728	59939729	+	Frame_Shift_Ins	INS	-	-	ATAAA			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:59939728_59939729insATAAA	ENST00000247194.4	-	5	1132_1133	c.1019_1020insTTTAT	c.(1018-1020)atafs	p.-340fs	L3HYPDH_ENST00000543619.1_5'UTR	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)						metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CATCTTCTATTATAAAGCTTGC	0.381																																																	0																																										SO:0001589	frameshift_variant	0			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.1015_1019dupTTTAT	14.37:g.59939729_59939733dupATAAA	ENSP00000247194:p.Ile340fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96LJ5	Frame_Shift_Ins	INS	ENST00000247194.4	37	CCDS9739.1																																																																																				0.381	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5		NM_144581	
CHRNE	1145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4804298	4804298	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:4804298G>A	ENST00000293780.4	-	7	799	c.789C>T	c.(787-789)ttC>ttT	p.F263F	CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	263					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)	p.F263F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCGCCGGCAGGAAGTAGGCGA	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	93.0	91.0					17																	4804298		2203	4300	6503	SO:0001819	synonymous_variant	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.789C>T	17.37:g.4804298G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTK6	Silent	SNP	ENST00000293780.4	37	CCDS11058.1																																																																																				0.657	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			
CLTC	1213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57733326	57733327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:57733326_57733327insT	ENST00000269122.3	+	6	1181_1182	c.907_908insT	c.(907-909)attfs	p.I303fs	CLTC_ENST00000393043.1_Frame_Shift_Ins_p.I303fs|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	303	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGGAGAAACAATTTTTGTTACT	0.371			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0																																										SO:0001589	frameshift_variant	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.912dupT	17.37:g.57733331_57733331dupT	ENSP00000269122:p.Ile303fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DU00|Q6N0A0|Q86TF2	Frame_Shift_Ins	INS	ENST00000269122.3	37	CCDS32696.1																																																																																				0.371	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859	
YBX3	8531	hgsc.bcm.edu	37	12	10862578	10862579	+	Frame_Shift_Ins	INS	-	-	C	rs201350858|rs377551329		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:10862578_10862579insC	ENST00000228251.4	-	6	908_909	c.708_709insG	c.(706-711)cggttcfs	p.F237fs	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	237					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TAAGGCGGGAACCGCCGCTGCC	0.589																																																	0																																										SO:0001589	frameshift_variant	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.709dupG	12.37:g.10862580_10862580dupC	ENSP00000228251:p.Phe237fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBW6|Q14121|Q969N6|Q96B76	Frame_Shift_Ins	INS	ENST00000228251.4	37	CCDS8630.1																																																																																				0.589	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1		NM_003651	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	114448936	114448936	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:114448936C>A	ENST00000297405.5	-	1	392	c.148G>T	c.(148-150)Gtc>Ttc	p.V50F	CSMD3_ENST00000455883.2_Missense_Mutation_p.V50F|CSMD3_ENST00000352409.3_Missense_Mutation_p.V50F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V50F(1)|p.V50L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATAAAAAGACGAGGTTCCAA	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(1)|kidney(1)											198.0	203.0	201.0					8																	114448936		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.148G>T	8.37:g.114448936C>A	ENSP00000297405:p.Val50Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447243	0.25987	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26810	2.06;1.71;2.07	5.82	5.82	0.92795	.	0.261231	0.20388	N	0.093301	T	0.22589	0.0545	N	0.08118	0	0.31669	N	0.644636	B;D;D;B	0.58620	0.399;0.96;0.983;0.278	B;P;P;B	0.58331	0.276;0.551;0.837;0.142	T	0.06972	-1.0797	10	0.19590	T	0.45	.	9.8962	0.41320	0.0:0.7853:0.1401:0.0746	.	50;50;50;50	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	F	50	ENSP00000297405:V50F;ENSP00000412263:V50F;ENSP00000343124:V50F	ENSP00000297405:V50F	V	-	1	0	CSMD3	114518112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.231000	0.43009	2.734000	0.93682	0.655000	0.94253	GTC		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
CTNNA2	1496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	80136837	80136837	+	Silent	SNP	C	C	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:80136837C>A	ENST00000402739.4	+	6	975	c.970C>A	c.(970-972)Cga>Aga	p.R324R	CTNNA2_ENST00000361291.4_Silent_p.R358R|CTNNA2_ENST00000540488.1_Silent_p.R324R|CTNNA2_ENST00000466387.1_Silent_p.R324R|CTNNA2_ENST00000496558.1_Silent_p.R324R|CTNNA2_ENST00000541047.1_Silent_p.R324R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	324					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R324R(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCCTGCACGCGAGACGACCG	0.647																																																	2	Substitution - coding silent(2)	kidney(2)											53.0	59.0	57.0					2																	80136837		2061	4208	6269	SO:0001819	synonymous_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.970C>A	2.37:g.80136837C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37																																																																																					0.647	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389	
CYTH2	9266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48977501	48977501	+	Missense_Mutation	SNP	G	G	A	rs1804728		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:48977501G>A	ENST00000452733.2	+	7	1086	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CYTH2_ENST00000427476.1_Missense_Mutation_p.V204I			Q99418	CYH2_HUMAN	cytohesin 2	204					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.V204I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAATCCCAATGTCCGGGACAA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											105.0	87.0	93.0					19																	48977501		2203	4300	6503	SO:0001583	missense	9266			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"""Pleckstrin homology (PH) domain containing"""	9502	protein-coding gene	gene with protein product		602488	"""pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)"", ""pleckstrin homology, Sec7 and coiled-coil domains 2"""	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.610G>A	19.37:g.48977501G>A	ENSP00000408236:p.Val204Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	ENST00000452733.2	37	CCDS12722.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695349	0.68386	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.54675	0.56;0.56;0.56	4.16	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.46741	1.465	0.58432	D	0.999999	B	0.32543	0.375	B	0.43889	0.435	T	0.52313	-0.8592	10	0.45353	T	0.12	.	10.0301	0.42096	0.1:0.0:0.9:0.0	.	204	Q99418-2	.	I	204;204;226	ENSP00000408236:V204I;ENSP00000391648:V204I;ENSP00000314566:V226I	ENSP00000314566:V226I	V	+	1	0	CYTH2	53669313	1.000000	0.71417	0.974000	0.42286	0.642000	0.38348	9.621000	0.98376	1.117000	0.41842	0.561000	0.74099	GTC		0.632	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317060.1		NM_004228	
DLGAP5	9787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55625310	55625310	+	Silent	SNP	T	T	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:55625310T>C	ENST00000247191.2	-	14	2019	c.1803A>G	c.(1801-1803)ccA>ccG	p.P601P	DLGAP5_ENST00000395425.2_Silent_p.P601P	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	601					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.P601P(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTCCTTTGGTATCACAG	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	106.0	108.0					14																	55625310		2202	4300	6502	SO:0001819	synonymous_variant	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1803A>G	14.37:g.55625310T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	ENST00000247191.2	37	CCDS9723.1																																																																																				0.348	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750	
DPY19L1	23333	broad.mit.edu;hgsc.bcm.edu	37	7	34981390	34981390	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:34981390A>G	ENST00000310974.4	-	18	1601	c.1457T>C	c.(1456-1458)aTc>aCc	p.I486T	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	486						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I486T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCTTGAGCAGATCAGTGATGC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											74.0	69.0	71.0					7																	34981390		1824	4101	5925	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1457T>C	7.37:g.34981390A>G	ENSP00000308695:p.Ile486Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731486	0.69189	.	.	ENSG00000173852	ENST00000310974	T	0.58506	0.33	5.14	5.14	0.70334	.	0.349338	0.31909	N	0.006871	T	0.64103	0.2568	M	0.73598	2.24	0.42507	D	0.992958	B	0.25048	0.117	B	0.35655	0.207	T	0.67325	-0.5699	10	0.72032	D	0.01	-10.7255	14.4374	0.67290	1.0:0.0:0.0:0.0	.	486	Q2PZI1	D19L1_HUMAN	T	486	ENSP00000308695:I486T	ENSP00000308695:I486T	I	-	2	0	DPY19L1	34947915	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.301000	0.96167	2.072000	0.62099	0.472000	0.43445	ATC		0.343	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			
DYNC1H1	1778	broad.mit.edu;hgsc.bcm.edu	37	14	102466737	102466737	+	Splice_Site	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:102466737G>A	ENST00000360184.4	+	18	4238		c.e18+1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTCGAAAGGTATATCATGA	0.403																																																	1	Unknown(1)	kidney(1)											96.0	96.0	96.0					14																	102466737		2203	4300	6503	SO:0001630	splice_region_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4074+1G>A	14.37:g.102466737G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098751	0.94197	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0769	0.97748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101536490	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.805000	0.99149	2.820000	0.97059	0.650000	0.86243	.		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376	Intron
CRACR2A	84766	hgsc.bcm.edu	37	12	3806145	3806147	+	In_Frame_Del	DEL	CCT	CCT	-	rs71582873|rs200051200|rs9788233	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:3806145_3806147delCCT	ENST00000252322.1	-	4	487_489	c.19_21delAGG	c.(19-21)aggdel	p.R7del	EFCAB4B_ENST00000444507.1_In_Frame_Del_p.R7del|EFCAB4B_ENST00000440314.2_In_Frame_Del_p.R7del	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		7			R -> G (in dbSNP:rs9788233).		activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R7I(2)|p.R7S(2)|p.R7M(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGAGACTACCCTCCCGTCAGGG	0.571																																																	6	Substitution - Missense(6)	lung(6)							,	45,4219		0,45,2087					,	-2.6	0.0		dbSNP_130	21	130,8122		1,128,3997	no	coding,coding	EFCAB4B	NM_032680.3,NM_001144958.1	,	1,173,6084	A1A1,A1R,RR		1.5754,1.0553,1.3982	,	,		175,12341				SO:0001651	inframe_deletion	84766																														ENST00000252322.1:c.19_21delAGG	12.37:g.3806145_3806147delCCT	ENSP00000252322:p.Arg7del	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1X0|B9EK63	In_Frame_Del	DEL	ENST00000252322.1	37	CCDS8522.1																																																																																				0.571	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			
EHD3	30845	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	31484489	31484489	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr2:31484489G>A	ENST00000322054.5	+	5	1275	c.990G>A	c.(988-990)gaG>gaA	p.E330E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	330					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.E330E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AGAAGAAGGAGCTGGTCAACA	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											152.0	140.0	144.0					2																	31484489		2203	4300	6503	SO:0001819	synonymous_variant	30845			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.990G>A	2.37:g.31484489G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	CCDS1774.1																																																																																				0.572	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1		NM_014600	
MYZAP	100820829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57913819	57913819	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:57913819T>C	ENST00000267853.5	+	4	426	c.332T>C	c.(331-333)tTg>tCg	p.L111S	GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000574161.1_Missense_Mutation_p.L111S|GCOM1_ENST00000380568.3_Missense_Mutation_p.L111S|POLR2M_ENST00000380563.2_Intron|GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000572390.1_Missense_Mutation_p.L111S|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380569.2_Missense_Mutation_p.L111S|GCOM1_ENST00000587652.1_Missense_Mutation_p.L111S|MYZAP_ENST00000380565.4_Missense_Mutation_p.L111S			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	111					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)		p.L111S(2)									AGAGCCACTTTGGAAAAGGTG	0.383																																																	2	Substitution - Missense(2)	kidney(2)											127.0	123.0	124.0					15																	57913819		2192	4292	6484	SO:0001583	missense	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.332T>C	15.37:g.57913819T>C	ENSP00000267853:p.Leu111Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174407	0.78452	.	.	ENSG00000137878	ENST00000380569;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T	0.46451	0.91;0.89;0.9;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.58101	1.795	0.80722	D	1	P;P;D;P	0.53151	0.481;0.887;0.958;0.952	B;P;P;P	0.53689	0.302;0.638;0.638;0.732	T	0.57596	-0.7784	10	0.87932	D	0	-4.7376	15.1622	0.72793	0.0:0.0:0.0:1.0	.	111;111;111;111	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	S	111	ENSP00000369943:L111S;ENSP00000267853:L111S;ENSP00000369939:L111S;ENSP00000369942:L111S	ENSP00000267853:L111S	L	+	2	0	GCOM1	55701111	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.989000	0.70587	2.280000	0.76307	0.523000	0.50628	TTG		0.383	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2		NM_001018100	
GPR115	221393	hgsc.bcm.edu;ucsc.edu	37	6	47680115	47680115	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:47680115delT	ENST00000283303.2	+	5	581	c.323delT	c.(322-324)cttfs	p.L108fs	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Frame_Shift_Del_p.L165fs|GPR115_ENST00000327753.3_Frame_Shift_Del_p.L108fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	108					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATCTCGCCTTTCTGTAGCA	0.408																																					GBM(22;431 510 9010 26644 32828)												0													147.0	137.0	140.0					6																	47680115		2203	4300	6503	SO:0001589	frameshift_variant	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.323delT	6.37:g.47680115delT	ENSP00000283303:p.Leu108fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Del	DEL	ENST00000283303.2	37	CCDS4922.2																																																																																				0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2		NM_153838	
GUCY2D	3000	broad.mit.edu;ucsc.edu	37	17	7909785	7909785	+	Silent	SNP	T	T	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:7909785T>A	ENST00000254854.4	+	4	1281	c.1131T>A	c.(1129-1131)gcT>gcA	p.A377A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	377					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.A377A(1)		skin(1)	1		Prostate(122;0.157)				CCGGAGCAGCTGTGGCCCGCC	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	33.0	32.0					17																	7909785		2202	4299	6501	SO:0001819	synonymous_variant	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1131T>A	17.37:g.7909785T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6LEA7	Silent	SNP	ENST00000254854.4	37	CCDS11127.1																																																																																				0.677	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			
ITPKB	3707	broad.mit.edu;hgsc.bcm.edu	37	1	226834969	226834969	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:226834969G>A	ENST00000272117.3	-	3	2144	c.2145C>T	c.(2143-2145)taC>taT	p.Y715Y	ITPKB_ENST00000429204.1_Silent_p.Y715Y			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	715					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.Y715Y(1)|p.Y241Y(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CATCCCCATGGTAGGCAGGTA	0.597																																					Colon(84;110 1851 5306 33547)												2	Substitution - coding silent(2)	kidney(2)											182.0	124.0	144.0					1																	226834969		2203	4300	6503	SO:0001819	synonymous_variant	3707			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2145C>T	1.37:g.226834969G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	CCDS1555.1																																																																																				0.597	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1		NM_002221	
KCNC1	3746	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17793714	17793714	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:17793714T>C	ENST00000379472.3	+	2	1103	c.1073T>C	c.(1072-1074)aTc>aCc	p.I358T	KCNC1_ENST00000265969.6_Missense_Mutation_p.I358T	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	358					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.I358T(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GGCGTGCTGATCTTCGCCACC	0.612																																																	2	Substitution - Missense(2)	kidney(2)											49.0	46.0	47.0					11																	17793714		2200	4293	6493	SO:0001583	missense	3746			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1073T>C	11.37:g.17793714T>C	ENSP00000368785:p.Ile358Thr	Somatic		WXS	Illumina HiSeq	Phase_I	K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409492	0.62399	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.98947	-5.26;-5.26	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.964;0.999	D	0.99895	1.1144	10	0.87932	D	0	.	14.6267	0.68626	0.0:0.0:0.0:1.0	.	358;358	Q3KNS8;P48547	.;KCNC1_HUMAN	T	358	ENSP00000265969:I358T;ENSP00000368785:I358T	ENSP00000265969:I358T	I	+	2	0	KCNC1	17750290	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.040000	0.89188	1.858000	0.53909	0.459000	0.35465	ATC		0.612	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1		NM_004976	
KIF3B	9371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30918079	30918079	+	Missense_Mutation	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:30918079G>A	ENST00000375712.3	+	8	2271	c.2104G>A	c.(2104-2106)Gca>Aca	p.A702T	KIF3B_ENST00000418717.2_Missense_Mutation_p.A328T	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	702	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.A702T(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGTGGATGCATCATCATT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											106.0	104.0	105.0					20																	30918079		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2104G>A	20.37:g.30918079G>A	ENSP00000364864:p.Ala702Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816458	0.70912	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.74632	-0.86;0.43	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.72118	2.19	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.956	T	0.81632	-0.0845	10	0.24483	T	0.36	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	328;702	B4DSR5;O15066	.;KIF3B_HUMAN	T	702;328	ENSP00000364864:A702T;ENSP00000406287:A328T	ENSP00000364864:A702T	A	+	1	0	KIF3B	30381740	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	9.100000	0.94213	2.559000	0.86315	0.655000	0.94253	GCA		0.493	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798	
KCNQ2	3785	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62038115	62038115	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:62038115A>G	ENST00000359125.2	-	17	2675	c.2501T>C	c.(2500-2502)aTt>aCt	p.I834T	KCNQ2_ENST00000360480.3_Missense_Mutation_p.I806T|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I842T|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I816T|KCNQ2_ENST00000344462.4_Missense_Mutation_p.I803T|KCNQ2_ENST00000354587.3_Missense_Mutation_p.I842T|KCNQ2_ENST00000359689.1_Missense_Mutation_p.I834T	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	834					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.I834T(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCCCTCCGCAATGTAGGGCCT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											49.0	41.0	44.0					20																	62038115		2195	4300	6495	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2501T>C	20.37:g.62038115A>G	ENSP00000352035:p.Ile834Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099235	0.56183	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.58090	0.2098	L	0.43152	1.355	0.39668	D	0.970712	D;P;D;D	0.62365	0.991;0.956;0.991;0.965	P;P;P;P	0.61275	0.837;0.817;0.886;0.885	T	0.64136	-0.6478	10	0.87932	D	0	-11.4254	14.5952	0.68400	1.0:0.0:0.0:0.0	.	806;816;803;834	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	T	816;834;804;842;834;803;806;830;842	ENSP00000349789:I816T;ENSP00000352035:I834T;ENSP00000359246:I804T;ENSP00000346601:I842T;ENSP00000352718:I834T;ENSP00000399612:I803T;ENSP00000353668:I806T;ENSP00000339611:I830T;ENSP00000359244:I842T	ENSP00000339611:I830T	I	-	2	0	KCNQ2	61508559	0.999000	0.42202	0.900000	0.35374	0.311000	0.27955	4.026000	0.57232	1.867000	0.54127	0.402000	0.26972	ATT		0.657	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1		NM_172109	
KRT76	51350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53162498	53162498	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53162498C>T	ENST00000332411.2	-	9	1969	c.1916G>A	c.(1915-1917)tGa>tAa	p.*639*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	0					cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.*639*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AACAGTAGATCACTTGGTGGA	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											170.0	171.0	171.0					12																	53162498		2203	4300	6503	SO:0001819	synonymous_variant	51350			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1916G>A	12.37:g.53162498C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DRR3|Q7Z795	Silent	SNP	ENST00000332411.2	37	CCDS8838.1																																																																																				0.517	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1		NM_015848	
KRT4	3851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53207418	53207418	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:53207418T>C	ENST00000551956.1	-	1	917	c.425A>G	c.(424-426)aAg>aGg	p.K142R	KRT4_ENST00000458244.2_Missense_Mutation_p.K122R|KRT4_ENST00000293774.4_Missense_Mutation_p.K216R			P19013	K2C4_HUMAN	keratin 4	156	Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.K216R(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTTGAGGAGCTTGATCTGTTC	0.562																																					Pancreas(190;284 2995 41444 45903)												1	Substitution - Missense(1)	kidney(1)											169.0	176.0	174.0					12																	53207418		2203	4300	6503	SO:0001583	missense	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.425A>G	12.37:g.53207418T>C	ENSP00000448220:p.Lys142Arg	Somatic		WXS	Illumina HiSeq	Phase_I	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.363082	0.82353	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.88896	-2.44;-2.44;-2.44	4.88	4.88	0.63580	Filament (1);	0.000000	0.48767	D	0.000166	D	0.95564	0.8558	M	0.92507	3.315	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.96648	0.9479	10	0.87932	D	0	.	15.193	0.73060	0.0:0.0:0.0:1.0	.	156	P19013	K2C4_HUMAN	R	142;216;122	ENSP00000448220:K142R;ENSP00000293774:K216R;ENSP00000387904:K122R	ENSP00000293774:K216R	K	-	2	0	KRT4	51493685	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.259000	0.72494	2.130000	0.65690	0.477000	0.44152	AAG		0.562	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1		NM_002272	
LRRC19	64922	hgsc.bcm.edu	37	9	26998211	26998211	+	Frame_Shift_Del	DEL	T	T	-	rs575764239	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr9:26998211delT	ENST00000380055.5	-	3	220	c.110delA	c.(109-111)aatfs	p.N37fs	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron|LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	37						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CAAGGTATAATTTTTTTCAGT	0.269													TTTTTTT|TTTTTTT|TTTTTT|deletion	3	0.000599042	0.0	0.0	5008	,	,		16259	0.0		0.003	False		,,,				2504	0.0																0									,,,,	8,4236		0,8,2114	20.0	22.0	21.0		,,,,	-0.2	1.0	9		22	23,8155		0,23,4066	no	intron,frameshift,intron,intron,intron	LRRC19,IFT74	NM_025103.2,NM_022901.2,NM_001099224.1,NM_001099223.1,NM_001099222.1	,,,,	0,31,6180	A1A1,A1R,RR		0.2812,0.1885,0.2496	,,,,	,,,,	26998211	31,12391	2199	4271	6470	SO:0001589	frameshift_variant	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.110delA	9.37:g.26998211delT	ENSP00000369395:p.Asn37fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV00|B9EG91	Frame_Shift_Del	DEL	ENST00000380055.5	37	CCDS6518.1																																																																																				0.269	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2		NM_022901	
MIOS	54468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	7636022	7636022	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:7636022C>T	ENST00000340080.4	+	11	2752	c.2331C>T	c.(2329-2331)ggC>ggT	p.G777G	MIOS_ENST00000405785.1_Silent_p.G777G	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	777						lysosomal membrane (GO:0005765)		p.G777G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTGTCCTGGCTGTCGAAAAC	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											188.0	181.0	183.0					7																	7636022		1979	4152	6131	SO:0001819	synonymous_variant	54468				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2331C>T	7.37:g.7636022C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	CCDS43554.1																																																																																				0.433	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1		NM_019005	
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117681127	117681127	+	Silent	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:117681127C>T	ENST00000338101.4	-	19	3043	c.3039G>A	c.(3037-3039)gtG>gtA	p.V1013V	NOS1_ENST00000317775.6_Silent_p.V979V|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.V979V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GAGCTTCGGCCACAAAGGTGA	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - coding silent(1)	kidney(1)											220.0	211.0	214.0					12																	117681127		2021	4179	6200	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3039G>A	12.37:g.117681127C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
NCOR2	9612	broad.mit.edu;ucsc.edu	37	12	124968161	124968161	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:124968161C>A	ENST00000405201.1	-	3	392	c.392G>T	c.(391-393)gGa>gTa	p.G131V	NCOR2_ENST00000356219.3_Missense_Mutation_p.G131V|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000429285.2_Missense_Mutation_p.G131V|NCOR2_ENST00000397355.1_Missense_Mutation_p.G131V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G131V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	131					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.G131V(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCTTCAGATCCCGCAGGCTG	0.647																																																	2	Substitution - Missense(2)	kidney(2)											18.0	25.0	23.0					12																	124968161		1913	4113	6026	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.392G>T	12.37:g.124968161C>A	ENSP00000384018:p.Gly131Val	Somatic		WXS	Illumina GAIIx	Phase_I	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.079|1.079	-0.667510|-0.667510	0.03428|0.03428	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000542927|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698;ENST00000448008	.|T;T;T;T;T;T	.|0.31769	.|2.23;2.48;2.23;2.48;2.48;1.48	4.92|4.92	-1.1|-1.1	0.09872|0.09872	.|.	.|0.833753	.|0.10302	.|U	.|0.691057	T|T	0.26702|0.26702	0.0653|0.0653	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	0.999996|0.999996	.|B;B;B	.|0.14012	.|0.005;0.005;0.009	.|B;B;B	.|0.21360	.|0.015;0.015;0.034	T|T	0.30534|0.30534	-0.9975|-0.9975	5|10	.|0.31617	.|T	.|0.26	-10.0725|-10.0725	15.1683|15.1683	0.72846|0.72846	0.0:0.2248:0.7041:0.0711|0.0:0.2248:0.7041:0.0711	.|.	.|131;131;131	.|C9J0Q5;C9J239;C9JFD3	.|.;.;.	Y|V	54|131;131;131;131;131;131;131;131;52	.|ENSP00000384018:G131V;ENSP00000384202:G131V;ENSP00000348551:G131V;ENSP00000380513:G131V;ENSP00000400281:G131V;ENSP00000402808:G131V	.|ENSP00000348551:G131V	D|G	-|-	1|2	0|0	NCOR2|NCOR2	123534114|123534114	0.000000|0.000000	0.05858|0.05858	0.030000|0.030000	0.17652|0.17652	0.037000|0.037000	0.13140|0.13140	0.033000|0.033000	0.13754|0.13754	-0.171000|-0.171000	0.10797|0.10797	0.455000|0.455000	0.32223|0.32223	GAT|GGA		0.647	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312	
NYNRIN	57523	hgsc.bcm.edu;ucsc.edu	37	14	24885703	24885708	+	In_Frame_Del	DEL	GCAGGA	GCAGGA	-	rs368421154		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	GCAGGA	GCAGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:24885703_24885708delGCAGGA	ENST00000382554.3	+	9	5066_5071	c.4748_4753delGCAGGA	c.(4747-4755)tgcaggagc>tgc	p.RS1584del		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1584					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAAGATTACTGCAGGAGCTGCTTGTT	0.583																																																	0																																										SO:0001651	inframe_deletion	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4748_4753delGCAGGA	14.37:g.24885703_24885708delGCAGGA	ENSP00000371994:p.Arg1584_Ser1585del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	In_Frame_Del	DEL	ENST00000382554.3	37	CCDS45090.1																																																																																				0.583	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140554161	140554161	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr5:140554161C>T	ENST00000231137.3	+	1	1919	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	582	Cadherin 6. {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.P582L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											27.0	38.0	34.0					5																	140554161		2069	4111	6180	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1745C>T	5.37:g.140554161C>T	ENSP00000231137:p.Pro582Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.25|14.25	2.478042|2.478042	0.44044|0.44044	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.68903|.	-0.36|.	4.3|4.3	2.47|2.47	0.30058|0.30058	Cadherin (3);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.56659|0.56659	0.2000|0.2000	M|M	0.80422|0.80422	2.495|2.495	0.09310|0.09310	N|N	0.999996|0.999996	P|.	0.49253|.	0.921|.	B|.	0.41571|.	0.36|.	T|T	0.51647|0.51647	-0.8679|-0.8679	9|6	0.66056|0.87932	D|D	0.02|0	.|.	6.7023|6.7023	0.23232|0.23232	0.3129:0.6026:0.0:0.0845|0.3129:0.6026:0.0:0.0845	.|.	582|.	Q9Y5E2|.	PCDB7_HUMAN|.	L|W	582|365	ENSP00000231137:P582L|.	ENSP00000231137:P582L|ENSP00000440828:R365W	P|R	+|+	2|1	0|2	PCDHB7|PCDHB7	140534345|140534345	0.000000|0.000000	0.05858|0.05858	0.942000|0.942000	0.38095|0.38095	0.744000|0.744000	0.42396|0.42396	0.121000|0.121000	0.15667|0.15667	0.359000|0.359000	0.24239|0.24239	0.449000|0.449000	0.29647|0.29647	CCG|CGG		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940	
PCNXL3	399909	broad.mit.edu;hgsc.bcm.edu	37	11	65392741	65392741	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:65392741A>T	ENST00000355703.3	+	17	3558	c.3019A>T	c.(3019-3021)Acc>Tcc	p.T1007S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1007						integral component of membrane (GO:0016021)		p.T1007S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGCGACCCCACCGTGCTCTG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											33.0	35.0	35.0					11																	65392741		2158	4262	6420	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3019A>T	11.37:g.65392741A>T	ENSP00000347931:p.Thr1007Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	A	6.542	0.468176	0.12461	.	.	ENSG00000197136	ENST00000355703	T	0.05855	3.38	4.53	3.37	0.38596	.	.	.	.	.	T	0.02455	0.0075	N	0.11064	0.09	0.33477	D	0.586947	B	0.21520	0.057	B	0.15870	0.014	T	0.31223	-0.9951	9	0.02654	T	1	.	3.9973	0.09564	0.7163:0.0:0.1006:0.1831	.	1007	Q9H6A9	PCX3_HUMAN	S	1007	ENSP00000347931:T1007S	ENSP00000347931:T1007S	T	+	1	0	PCNXL3	65149317	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.015000	0.49599	1.921000	0.55644	0.459000	0.35465	ACC		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1		NM_032223	
PHLPP2	23035	broad.mit.edu;ucsc.edu	37	16	71682850	71682850	+	Silent	SNP	A	A	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:71682850A>G	ENST00000568954.1	-	19	4293	c.3915T>C	c.(3913-3915)ccT>ccC	p.P1305P	PHLPP2_ENST00000356272.3_Silent_p.P1305P|PHLPP2_ENST00000567016.1_Silent_p.P1340P|PHLPP2_ENST00000393524.2_Silent_p.P1238P|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1305					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.P1305P(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATGGGGCTCAGGCTCGAGCC	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	69.0	71.0					16																	71682850		2198	4300	6498	SO:0001819	synonymous_variant	23035			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3915T>C	16.37:g.71682850A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	CCDS32479.1																																																																																				0.582	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020	
PI4KA	5297	hgsc.bcm.edu	37	22	21073055	21073055	+	Silent	SNP	G	G	C	rs530508978	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:21073055G>C	ENST00000572273.1	-	44	5228	c.4998C>G	c.(4996-4998)tcC>tcG	p.S1666S	PI4KA_ENST00000414196.3_Silent_p.S476S|PI4KA_ENST00000255882.6_Silent_p.S1724S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1666	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCGCTGGGCCGGACAAGGAGC	0.517													g|||	21	0.00419329	0.0053	0.0	5008	,	,		17867	0.003		0.008	False		,,,				2504	0.0031				GBM(136;1332 1831 3115 23601 50806)												0													86.0	80.0	82.0					22																	21073055		2203	4300	6503	SO:0001819	synonymous_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4998C>G	22.37:g.21073055G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37																																																																																					0.517	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_058004	
PKHD1	5314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	51935825	51935825	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:51935825G>T	ENST00000371117.3	-	9	921	c.646C>A	c.(646-648)Cat>Aat	p.H216N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H216N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	216	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.H216N(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTTCCACATGGCACTGCAGA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											99.0	95.0	96.0					6																	51935825		2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.646C>A	6.37:g.51935825G>T	ENSP00000360158:p.His216Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.368	1.069877	0.20147	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86694	-1.95;-2.16	5.18	5.18	0.71444	.	0.188802	0.36932	N	0.002337	T	0.63570	0.2522	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.53940	-0.8367	10	0.36615	T	0.2	.	16.0676	0.80897	0.0:0.0:1.0:0.0	.	216;216	P08F94-2;P08F94	.;PKHD1_HUMAN	N	216	ENSP00000360158:H216N;ENSP00000341097:H216N	ENSP00000341097:H216N	H	-	1	0	PKHD1	52043784	1.000000	0.71417	0.180000	0.23079	0.009000	0.06853	3.938000	0.56583	2.697000	0.92050	0.650000	0.86243	CAT		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694	
POLE	5426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133219900	133219900	+	Missense_Mutation	SNP	G	G	C	rs536917758		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:133219900G>C	ENST00000320574.5	-	35	4504	c.4461C>G	c.(4459-4461)atC>atG	p.I1487M	POLE_ENST00000535270.1_Missense_Mutation_p.I1460M|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1487					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.I1487M(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGTACAGGTAGATATGGCGGA	0.592								DNA polymerases (catalytic subunits)																																									2	Substitution - Missense(2)	kidney(2)											143.0	129.0	134.0					12																	133219900		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4461C>G	12.37:g.133219900G>C	ENSP00000322570:p.Ile1487Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593682	0.28445	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.03181	4.02;4.02;4.02	5.96	5.96	0.96718	.	0.222194	0.53938	D	0.000043	T	0.11793	0.0287	M	0.81239	2.535	0.53005	D	0.999964	B;B	0.26512	0.112;0.151	B;B	0.33620	0.167;0.08	T	0.01762	-1.1279	10	0.54805	T	0.06	0.1224	20.3928	0.98949	0.0:0.0:1.0:0.0	.	1460;1487	F5H1D6;Q07864	.;DPOE1_HUMAN	M	1487;1498;1460	ENSP00000322570:I1487M;ENSP00000406383:I1498M;ENSP00000445753:I1460M	ENSP00000322570:I1487M	I	-	3	3	POLE	131729973	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	3.493000	0.53266	2.813000	0.96785	0.655000	0.94253	ATC		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2		NM_006231	
PPP1R15B	84919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	T	A	rs537467435	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:204378920T>A	ENST00000367188.4	-	1	1999	c.1620A>T	c.(1618-1620)gaA>gaT	p.E540D	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	540					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.E540D(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											58.0	58.0	58.0					1																	204378920		2203	4300	6503	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1620A>T	1.37:g.204378920T>A	ENSP00000356156:p.Glu540Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724677	0.48833	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.19394	2.15	5.38	-7.88	0.01178	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.746215	0.13044	N	0.418281	T	0.08758	0.0217	L	0.28014	0.82	0.36487	D	0.868218	B	0.20550	0.046	B	0.22601	0.04	T	0.17077	-1.0381	10	0.28530	T	0.3	-6.382	2.3305	0.04234	0.1917:0.3548:0.2793:0.1742	.	540	Q5SWA1	PR15B_HUMAN	D	540;450	ENSP00000356156:E540D	ENSP00000356156:E540D	E	-	3	2	PPP1R15B	202645543	0.001000	0.12720	0.941000	0.38009	0.786000	0.44442	-1.432000	0.02430	-1.053000	0.03218	-0.250000	0.11733	GAA		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1		NM_032833	
RAET1G	353091	broad.mit.edu;hgsc.bcm.edu	37	6	150240312	150240312	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:150240312T>A	ENST00000367360.2	-	3	565	c.498A>T	c.(496-498)agA>agT	p.R166S	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.R166S|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.R166S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTTTCATCTTTCTGGCTCCAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											242.0	226.0	231.0					6																	150240312		2203	4300	6503	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.498A>T	6.37:g.150240312T>A	ENSP00000356329:p.Arg166Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	T	6.796	0.515840	0.12944	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.59224	0.28;0.28	2.4	-2.07	0.07276	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.28366	0.0701	L	0.43152	1.355	0.09310	N	1	B	0.32425	0.371	B	0.40101	0.319	T	0.43988	-0.9357	9	0.59425	D	0.04	.	3.2898	0.06945	0.0:0.3173:0.3169:0.3658	.	166	Q6H3X3	RET1G_HUMAN	S	166	ENSP00000356329:R166S;ENSP00000417503:R166S	ENSP00000356329:R166S	R	-	3	2	RAET1G	150282005	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.065000	0.03458	-0.435000	0.07264	0.414000	0.27820	AGA		0.473	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2			
RASGRP2	10235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64507132	64507132	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:64507132G>C	ENST00000354024.3	-	7	924	c.672C>G	c.(670-672)atC>atG	p.I224M	RASGRP2_ENST00000394432.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000377497.3_Missense_Mutation_p.I224M|RASGRP2_ENST00000377494.1_Missense_Mutation_p.I224M	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	224	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.I286M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAAGTGTGTGATGACCAGGG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											84.0	97.0	92.0					11																	64507132		2201	4297	6498	SO:0001583	missense	10235			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.672C>G	11.37:g.64507132G>C	ENSP00000338864:p.Ile224Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	ENST00000354024.3	37	CCDS31598.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726841	0.69074	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024;ENST00000431822	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	4.63	4.63	0.57726	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.052243	0.85682	D	0.000000	T	0.49474	0.1559	M	0.65498	2.005	0.80722	D	1	B;P	0.41393	0.208;0.748	B;P	0.54924	0.433;0.764	T	0.47249	-0.9132	10	0.46703	T	0.11	-15.6043	9.0912	0.36612	0.1019:0.0:0.8981:0.0	.	224;224	Q7LDG7;A6NDC7	GRP2_HUMAN;.	M	224	ENSP00000366714:I224M;ENSP00000377953:I224M;ENSP00000366717:I224M;ENSP00000338864:I224M;ENSP00000399114:I224M	ENSP00000338864:I224M	I	-	3	3	RASGRP2	64263708	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.834000	0.55798	2.295000	0.77249	0.555000	0.69702	ATC		0.637	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1		NM_153819	
RBM6	10180	hgsc.bcm.edu;ucsc.edu	37	3	50112706	50112706	+	Silent	SNP	C	C	T	rs148501050	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:50112706C>T	ENST00000266022.4	+	20	3448	c.3189C>T	c.(3187-3189)ggC>ggT	p.G1063G	RBM6_ENST00000442092.1_Silent_p.G541G|RBM6_ENST00000539992.1_Silent_p.G405G|RBM6_ENST00000422955.1_Silent_p.G541G|RBM6_ENST00000443081.1_Silent_p.G931G|RBM6_ENST00000421682.1_Silent_p.G59G	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1063	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G1063G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGCTACTGGCTGGAGGAAAG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	89.0	88.0					3																	50112706		2203	4300	6503	SO:0001819	synonymous_variant	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3189C>T	3.37:g.50112706C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O60549|O75524|Q86SS3	Silent	SNP	ENST00000266022.4	37	CCDS2809.1																																																																																				0.483	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4		NM_005777	
RBMX	27316	hgsc.bcm.edu	37	X	135956571	135956572	+	Frame_Shift_Ins	INS	-	-	GG	rs369155856		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:135956571_135956572insGG	ENST00000320676.7	-	9	1059_1060	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Frame_Shift_Ins_p.P167fs|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Frame_Shift_Ins_p.P174fs|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	302					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCATAAGATGGCGGGGGCCC	0.465																																																	0																																										SO:0001589	frameshift_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.904_905dupCC	X.37:g.135956572_135956573dupGG	ENSP00000359645:p.Pro302fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	ENST00000320676.7	37	CCDS14661.1																																																																																				0.465	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1		NM_002139	
RPS29	6235	broad.mit.edu;hgsc.bcm.edu	37	14	50053045	50053045	+	Missense_Mutation	SNP	T	T	C	rs368998907		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr14:50053045T>C	ENST00000245458.6	-	1	49	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	RPS29_ENST00000396020.3_Missense_Mutation_p.Y7C|RN7SL1_ENST00000553637.1_RNA|RPS29_ENST00000557111.1_Intron	NM_001032.3	NP_001023.1	P62273	RS29_HUMAN	ribosomal protein S29	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)	p.Y7C(2)		endometrium(1)|kidney(1)|lung(1)|ovary(1)	4	all_epithelial(31;0.00214)|Breast(41;0.0124)					GTGGCTCCAGTACAGCTGCTG	0.522																																																	2	Substitution - Missense(2)	kidney(2)						T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	57.0	63.0	61.0		20,20	5.4	1.0	14		61	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	RPS29	NM_001032.3,NM_001030001.1	194,194	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	7/57,7/68	50053045	1,13001	2203	4298	6501	SO:0001583	missense	6235			L31610	CCDS9685.1, CCDS32072.1	14q21.3	2011-04-06			ENSG00000213741	ENSG00000213741		"""S ribosomal proteins"""	10419	protein-coding gene	gene with protein product		603633				8781548, 7772601	Standard	NM_001032		Approved	S29	uc001wwl.4	P62273	OTTHUMG00000140272	ENST00000245458.6:c.20A>G	14.37:g.50053045T>C	ENSP00000245458:p.Tyr7Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZ73|P30054	Missense_Mutation	SNP	ENST00000245458.6	37	CCDS9685.1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784197	0.70222	0.0	1.16E-4	ENSG00000213741	ENST00000396020;ENST00000245458	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	.	.	.	0.80722	D	1	B;B	0.32101	0.013;0.356	B;B	0.35688	0.072;0.208	T	0.63603	-0.6600	8	0.66056	D	0.02	-43.0981	14.4156	0.67148	0.0:0.0:0.0:1.0	.	7;7	P62273;A8MZ73	RS29_HUMAN;.	C	7	.	ENSP00000245458:Y7C	Y	-	2	0	RPS29	49122795	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.288000	0.78691	2.272000	0.75746	0.460000	0.39030	TAC		0.522	RPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276809.1		NM_001030001	
RPUSD2	27079	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40866017	40866017	+	Missense_Mutation	SNP	G	G	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:40866017G>C	ENST00000315616.7	+	3	1233	c.1195G>C	c.(1195-1197)Ggc>Cgc	p.G399R	RPUSD2_ENST00000559271.1_Missense_Mutation_p.G338R	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	399					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.G399R(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TCCTTCTCGAGGCCGGGGCGG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											60.0	57.0	58.0					15																	40866017		2203	4300	6503	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1195G>C	15.37:g.40866017G>C	ENSP00000323288:p.Gly399Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027480	0.75390	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.37235	1.21	5.36	5.36	0.76844	Pseudouridine synthase, catalytic domain (1);	0.047687	0.85682	D	0.000000	T	0.69700	0.3140	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76482	-0.2943	10	0.87932	D	0	-22.4607	18.8836	0.92367	0.0:0.0:1.0:0.0	.	399	Q8IZ73	RUSD2_HUMAN	R	399;378	ENSP00000323288:G399R	ENSP00000323288:G399R	G	+	1	0	RPUSD2	38653309	1.000000	0.71417	1.000000	0.80357	0.420000	0.31355	9.445000	0.97587	2.797000	0.96272	0.563000	0.77884	GGC		0.572	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2		NM_152260	
RUSC1	23623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155300229	155300229	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:155300229G>T	ENST00000368352.5	+	10	2727	c.2576G>T	c.(2575-2577)aGa>aTa	p.R859I	RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368354.3_Missense_Mutation_p.R753I|RUSC1_ENST00000368349.4_Missense_Mutation_p.R390I|RUSC1_ENST00000368347.4_Missense_Mutation_p.R449I	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	859	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.R449I(1)|p.R390I(1)|p.R753I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ACTGCTGCAAGACCTGACCAG	0.642																																																	3	Substitution - Missense(3)	kidney(3)											130.0	101.0	111.0					1																	155300229		2203	4300	6503	SO:0001583	missense	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2576G>T	1.37:g.155300229G>T	ENSP00000357336:p.Arg859Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370665	0.24771	.	.	ENSG00000160753	ENST00000368354;ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.4	2.32	0.28847	Src homology-3 domain (4);	1.121510	0.07075	N	0.836042	T	0.26738	0.0654	L	0.33293	1	0.18873	N	0.999988	B;B;B;B;B;P;B	0.42203	0.03;0.024;0.03;0.202;0.232;0.773;0.137	B;B;B;B;B;P;B	0.46885	0.053;0.031;0.053;0.097;0.124;0.53;0.053	T	0.23868	-1.0176	10	0.52906	T	0.07	0.0639	7.14	0.25550	0.0986:0.4411:0.4603:0.0	.	357;390;390;284;449;358;859	B4DQB8;Q9BVN2-2;Q5T9U9;B3KWM9;Q5T9V0;Q9BT86;Q9BVN2	.;.;.;.;.;.;RUSC1_HUMAN	I	753;859;449;390;390	ENSP00000357338:R753I;ENSP00000357336:R859I;ENSP00000357331:R449I;ENSP00000357333:R390I;ENSP00000292254:R390I	ENSP00000292254:R390I	R	+	2	0	RUSC1	153566853	0.110000	0.22057	0.936000	0.37596	0.408000	0.30992	0.562000	0.23531	1.172000	0.42781	0.467000	0.42956	AGA		0.642	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39051932	39051932	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:39051932G>A	ENST00000359596.3	+	90	12462	c.12462G>A	c.(12460-12462)ccG>ccA	p.P4154P	RYR1_ENST00000360985.3_Silent_p.P4149P|RYR1_ENST00000355481.4_Silent_p.P4149P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4154					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P4154P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCATGTGCCGCATGACCCTC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	85.0	94.0					19																	39051932		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12462G>A	19.37:g.39051932G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			
SARS	6301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109772058	109772058	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:109772058A>G	ENST00000234677.2	+	4	386	c.311A>G	c.(310-312)aAa>aGa	p.K104R	SARS_ENST00000369923.4_Missense_Mutation_p.K104R	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	104					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.K104R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TCACAAATCAAAAAAGTCCGA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											198.0	208.0	205.0					1																	109772058		2203	4300	6503	SO:0001583	missense	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.311A>G	1.37:g.109772058A>G	ENSP00000234677:p.Lys104Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	CCDS795.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696631	0.68386	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42900	0.96;0.96	5.77	5.77	0.91146	tRNA-binding arm (1);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	M	0.62154	1.92	0.80722	D	1	P;B;B;P	0.36974	0.576;0.06;0.424;0.576	B;B;B;B	0.43916	0.287;0.126;0.436;0.287	T	0.23691	-1.0181	10	0.38643	T	0.18	-16.5557	15.8091	0.78543	1.0:0.0:0.0:0.0	.	104;104;104;104	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	R	104	ENSP00000234677:K104R;ENSP00000358939:K104R	ENSP00000234677:K104R	K	+	2	0	SARS	109573581	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.272000	0.95707	2.212000	0.71576	0.529000	0.55759	AAA		0.502	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2		NM_006513	
SGSH	6448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78196561	78196561	+	5'Flank	SNP	C	C	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:78196561C>G	ENST00000326317.6	-	0	0				SGSH_ENST00000570923.1_5'Flank|SLC26A11_ENST00000546047.2_Missense_Mutation_p.F114L|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000361193.3_Missense_Mutation_p.F114L|SLC26A11_ENST00000572725.1_Missense_Mutation_p.F114L|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000411502.3_Missense_Mutation_p.F114L|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.F114L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTCTCCTTCTACACCTTCC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											198.0	167.0	177.0					17																	78196561		2203	4300	6503	SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196561C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	c	9.829	1.187878	0.21954	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92595	-3.07;-3.07;-3.07	4.69	3.7	0.42460	.	0.412562	0.27976	N	0.017092	D	0.85852	0.5793	L	0.29908	0.895	0.29337	N	0.86629	B	0.25563	0.129	B	0.30251	0.113	T	0.77851	-0.2434	10	0.33141	T	0.24	-10.969	8.7225	0.34449	0.2997:0.5547:0.1456:0.0	.	114	Q86WA9	S2611_HUMAN	L	114	ENSP00000403998:F114L;ENSP00000440724:F114L;ENSP00000355384:F114L	ENSP00000355384:F114L	F	+	3	2	SLC26A11	75811156	0.982000	0.34865	1.000000	0.80357	0.987000	0.75469	0.180000	0.16860	0.962000	0.38057	0.455000	0.32223	TTC		0.607	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1		NM_000199	
SLC7A10	56301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	33702235	33702235	+	Splice_Site	SNP	C	C	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:33702235C>G	ENST00000253188.4	-	7	1059		c.e7-1			NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCCCGAAGGTCTGGGTGGGCA	0.617																																																	1	Unknown(1)	kidney(1)											58.0	55.0	56.0					19																	33702235		2203	4300	6503	SO:0001630	splice_region_variant	56301			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.913-1G>C	19.37:g.33702235C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE84	Splice_Site	SNP	ENST00000253188.4	37	CCDS12431.1	.	.	.	.	.	.	.	.	.	.	.	20.5	3.997027	0.74818	.	.	ENSG00000130876	ENST00000253188	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.42127	D	0.991458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5701	0.87933	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A10	38394075	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	7.783000	0.85696	2.408000	0.81797	0.467000	0.42956	.		0.617	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2		NM_019849	Intron
SMC3	9126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	112356197	112356197	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:112356197T>G	ENST00000361804.4	+	19	2131	c.2005T>G	c.(2005-2007)Tat>Gat	p.Y669D		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	669					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.Y669D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGGGGTTATTATGACACAAG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											116.0	116.0	116.0					10																	112356197		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2005T>G	10.37:g.112356197T>G	ENSP00000354720:p.Tyr669Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600169	0.66332	.	.	ENSG00000108055	ENST00000361804	D	0.85629	-2.01	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.79323	0.4426	L	0.34521	1.04	0.80722	D	1	P	0.49307	0.922	B	0.41412	0.356	T	0.79933	-0.1594	10	0.38643	T	0.18	.	15.3105	0.74028	0.0:0.0:0.0:1.0	.	669	Q9UQE7	SMC3_HUMAN	D	669	ENSP00000354720:Y669D	ENSP00000354720:Y669D	Y	+	1	0	SMC3	112346187	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	7.698000	0.84413	2.014000	0.59158	0.260000	0.18958	TAT		0.383	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1		NM_005445	
SRCIN1	80725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	36708271	36708271	+	Missense_Mutation	SNP	A	A	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:36708271A>C	ENST00000264659.7	-	14	2802	c.2578T>G	c.(2578-2580)Ttc>Gtc	p.F860V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.F894V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	732	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.F860V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGCATTTCGAAGTCCACGCTC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											39.0	46.0	44.0					17																	36708271		1976	4130	6106	SO:0001583	missense	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2578T>G	17.37:g.36708271A>C	ENSP00000264659:p.Phe860Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.429381	0.43122	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52526	0.66	4.69	3.61	0.41365	.	0.051181	0.85682	D	0.000000	T	0.33556	0.0867	L	0.40543	1.245	0.47245	D	0.999366	P;B;P;P	0.40230	0.708;0.4;0.655;0.655	B;B;B;B	0.40702	0.338;0.173;0.269;0.269	T	0.23762	-1.0179	10	0.02654	T	1	-12.0781	9.3762	0.38283	0.9132:0.0:0.0868:0.0	.	166;732;732;860	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	V	860;641;714	ENSP00000264659:F860V	ENSP00000264659:F860V	F	-	1	0	SRCIN1	33961797	1.000000	0.71417	0.998000	0.56505	0.785000	0.44390	2.446000	0.44908	0.942000	0.37525	0.459000	0.35465	TTC		0.617	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4		NM_025248	
STAG1	10274	hgsc.bcm.edu;ucsc.edu	37	3	136141378	136141379	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:136141378_136141379delAC	ENST00000383202.2	-	19	2166_2167	c.1910_1911delGT	c.(1909-1911)agtfs	p.S637fs	STAG1_ENST00000236698.5_Frame_Shift_Del_p.S637fs|STAG1_ENST00000434713.2_Frame_Shift_Del_p.S411fs|STAG1_ENST00000536929.1_Frame_Shift_Del_p.S221fs	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	637					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATAGGTTTTACTGCAGGCTTC	0.371																																																	0																																										SO:0001589	frameshift_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1910_1911delGT	3.37:g.136141378_136141379delAC	ENSP00000372689:p.Ser637fs	Somatic		WXS	Illumina HiSeq	Phase_I	O00539|Q6P275	Frame_Shift_Del	DEL	ENST00000383202.2	37	CCDS3090.1																																																																																				0.371	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862	
SVIL	6840	hgsc.bcm.edu;ucsc.edu	37	10	29762797	29762805	+	In_Frame_Del	DEL	CGTCATCAG	CGTCATCAG	-	rs373607156		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	CGTCATCAG	CGTCATCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:29762797_29762805delCGTCATCAG	ENST00000355867.4	-	30	6243_6251	c.5491_5499delCTGATGACG	c.(5491-5499)ctgatgacgdel	p.LMT1831del	PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375398.2_In_Frame_Del_p.LMT1831del|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_In_Frame_Del_p.LMT745del|SVIL_ENST00000375400.3_In_Frame_Del_p.LMT1405del|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1831					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCAGCTCCACCGTCATCAGCGCCGACGTG	0.651																																																	0																																										SO:0001651	inframe_deletion	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5491_5499delCTGATGACG	10.37:g.29762797_29762805delCGTCATCAG	ENSP00000348128:p.Leu1831_Thr1833del	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	In_Frame_Del	DEL	ENST00000355867.4	37	CCDS7164.1																																																																																				0.651	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
TBX18	9096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	85447027	85447027	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:85447027G>T	ENST00000369663.5	-	8	1537	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	400					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.F400L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GCCCCAGATGGAAGGCAGGAG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											72.0	74.0	74.0					6																	85447027		2203	4300	6503	SO:0001583	missense	9096			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1200C>A	6.37:g.85447027G>T	ENSP00000358677:p.Phe400Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681904	0.68042	.	.	ENSG00000112837	ENST00000369663	D	0.87887	-2.31	5.18	3.4	0.38934	.	0.414703	0.30752	N	0.008948	D	0.82879	0.5133	L	0.36672	1.1	0.52099	D	0.999947	D	0.76494	0.999	D	0.75484	0.986	T	0.79313	-0.1855	10	0.19590	T	0.45	.	9.696	0.40158	0.2253:0.0:0.7747:0.0	.	400	O95935	TBX18_HUMAN	L	400	ENSP00000358677:F400L	ENSP00000358677:F400L	F	-	3	2	TBX18	85503746	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.889000	0.48601	0.576000	0.29452	0.585000	0.79938	TTC		0.582	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2		NM_001080508	
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152711518	152711518	+	Missense_Mutation	SNP	A	A	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr6:152711518A>T	ENST00000367255.5	-	53	8675	c.8074T>A	c.(8074-8076)Ttg>Atg	p.L2692M	SYNE1_ENST00000265368.4_Missense_Mutation_p.L2692M|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2699M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2731M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2692					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L2692M(2)|p.L2699M(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACTTCTCAAGGCCTGTTCC	0.473										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	kidney(3)											189.0	145.0	160.0					6																	152711518		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8074T>A	6.37:g.152711518A>T	ENSP00000356224:p.Leu2692Met	Somatic		WXS	Illumina HiSeq	Phase_I	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035548	0.35893	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	6.17	1.1	0.20463	.	0.281376	0.24089	N	0.041647	T	0.11750	0.0286	L	0.40543	1.245	0.80722	D	1	B;B;B;P	0.38223	0.199;0.35;0.35;0.623	B;B;B;B	0.36378	0.03;0.111;0.111;0.223	T	0.09684	-1.0663	10	0.37606	T	0.19	.	0.4271	0.00465	0.2889:0.1353:0.1867:0.3892	.	2675;2692;2692;2699	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	M	2692;2699;2692;2699;2731	ENSP00000356224:L2692M;ENSP00000396024:L2699M;ENSP00000265368:L2692M;ENSP00000390975:L2699M;ENSP00000341887:L2731M	ENSP00000265368:L2692M	L	-	1	2	SYNE1	152753211	0.899000	0.30636	0.999000	0.59377	0.996000	0.88848	0.618000	0.24373	0.170000	0.19704	-0.250000	0.11733	TTG		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
THRAP3	9967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36755101	36755101	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:36755101C>T	ENST00000354618.5	+	5	1705	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S494F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	494	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S494F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGGAGGAGTCTTTCCCAGAG	0.507			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	kidney(1)											80.0	90.0	87.0					1																	36755101		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1481C>T	1.37:g.36755101C>T	ENSP00000346634:p.Ser494Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816412	0.50527	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10573	2.86;2.86	5.84	5.84	0.93424	.	0.451495	0.23060	N	0.052390	T	0.12263	0.0298	L	0.36672	1.1	0.36344	D	0.859667	P	0.44380	0.834	B	0.42282	0.382	T	0.07309	-1.0779	10	0.42905	T	0.14	-1.486	15.3925	0.74758	0.0:0.851:0.149:0.0	.	494	Q9Y2W1	TR150_HUMAN	F	494	ENSP00000346634:S494F;ENSP00000433825:S494F	ENSP00000346634:S494F	S	+	2	0	THRAP3	36527688	0.816000	0.29132	0.993000	0.49108	0.953000	0.61014	3.354000	0.52254	2.765000	0.95021	0.655000	0.94253	TCT		0.507	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119	
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63030443	63030443	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:63030443A>G	ENST00000561311.1	+	29	3828	c.3598A>G	c.(3598-3600)Aac>Gac	p.N1200D	TLN2_ENST00000306829.6_Missense_Mutation_p.N1200D|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1200					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.N1200D(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTCCTTGAATAACTGCGTAAA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											144.0	128.0	133.0					15																	63030443		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3598A>G	15.37:g.63030443A>G	ENSP00000453508:p.Asn1200Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555221	0.65425	.	.	ENSG00000171914	ENST00000306829	T	0.13778	2.56	5.35	5.35	0.76521	.	0.132804	0.64402	D	0.000002	T	0.15132	0.0365	L	0.46157	1.445	0.49582	D	0.999803	B	0.25850	0.136	B	0.28991	0.097	T	0.06373	-1.0830	10	0.20046	T	0.44	-23.0431	15.6362	0.76953	1.0:0.0:0.0:0.0	.	1200	Q9Y4G6	TLN2_HUMAN	D	1200	ENSP00000303476:N1200D	ENSP00000303476:N1200D	N	+	1	0	TLN2	60817735	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.451000	0.80668	2.155000	0.67459	0.533000	0.62120	AAC		0.502	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			
TRHDE	29953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	73056887	73056887	+	Missense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:73056887C>T	ENST00000261180.4	+	19	3083	c.2987C>T	c.(2986-2988)gCt>gTt	p.A996V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	996					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A996V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCTCACGAGCTGTGGAAACT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											63.0	65.0	64.0					12																	73056887		2203	4299	6502	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2987C>T	12.37:g.73056887C>T	ENSP00000261180:p.Ala996Val	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110142	0.94292	.	.	ENSG00000072657	ENST00000261180	T	0.06294	3.32	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03453	-1.1035	10	0.15066	T	0.55	.	19.4305	0.94762	0.0:1.0:0.0:0.0	.	996	Q9UKU6	TRHDE_HUMAN	V	996	ENSP00000261180:A996V	ENSP00000261180:A996V	A	+	2	0	TRHDE	71343154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.997000	0.76270	2.673000	0.90976	0.557000	0.71058	GCT		0.388	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381	
UBC	7316	hgsc.bcm.edu	37	12	125397187	125397187	+	Silent	SNP	G	G	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:125397187G>A	ENST00000536769.1	-	1	2707	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	UBC_ENST00000339647.5_Silent_p.L377L|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.L301L			P0CG48	UBC_HUMAN	ubiquitin C	377	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.522																																																	0													226.0	213.0	217.0					12																	125397187		2203	4300	6503	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1131C>T	12.37:g.125397187G>A		Somatic		WXS	Illumina HiSeq	Phase_I	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	CCDS9260.1																																																																																				0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1		NM_021009	
UTP18	51096	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	49340732	49340732	+	Missense_Mutation	SNP	A	A	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr17:49340732A>G	ENST00000225298.7	+	2	497	c.440A>G	c.(439-441)gAt>gGt	p.D147G		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	147					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D147G(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GATGAAGAAGATGAAGATGAG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											103.0	104.0	104.0					17																	49340732		1869	4115	5984	SO:0001583	missense	51096			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.440A>G	17.37:g.49340732A>G	ENSP00000225298:p.Asp147Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678889	0.68042	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.31769	1.48	4.63	4.63	0.57726	.	0.106946	0.64402	D	0.000008	T	0.57681	0.2070	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.65417	-0.6173	10	0.87932	D	0	-26.0225	12.9573	0.58434	1.0:0.0:0.0:0.0	.	147	Q9Y5J1	UTP18_HUMAN	G	147;123	ENSP00000225298:D147G	ENSP00000225298:D147G	D	+	2	0	UTP18	46695731	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.989000	0.63870	2.015000	0.59207	0.460000	0.39030	GAT		0.358	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1		NM_016001	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188268	10188269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:10188268_10188269insC	ENST00000256474.2	+	2	1251_1252	c.411_412insC	c.(412-414)ccafs	p.P138fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	138	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P138fs*1(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATTATTTGTGCCATCTCTCAA	0.421		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	2	Deletion - Frameshift(2)	kidney(2)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.413dupC	3.37:g.10188270_10188270dupC	ENSP00000256474:p.Pro138fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.421	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS13B	157680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	100887766	100887766	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:100887766G>T	ENST00000358544.2	+	62	12052	c.11941G>T	c.(11941-11943)Gtg>Ttg	p.V3981L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.V3956L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3981					protein transport (GO:0015031)			p.V3981L(1)|p.V3956L(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATGCCCTGTGGTGGCTGCAGA	0.468																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	kidney(2)											150.0	129.0	136.0					8																	100887766		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11941G>T	8.37:g.100887766G>T	ENSP00000351346:p.Val3981Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266546	0.59540	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69561	-0.4;-0.41	5.65	3.86	0.44501	.	0.217749	0.38897	N	0.001530	T	0.61337	0.2339	N	0.19112	0.55	0.80722	D	1	P;B	0.50943	0.94;0.117	P;B	0.53649	0.731;0.034	T	0.58387	-0.7645	10	0.33940	T	0.23	.	12.2247	0.54453	0.138:0.0:0.862:0.0	.	3956;3981	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	L	3956;3981	ENSP00000349685:V3956L;ENSP00000351346:V3981L	ENSP00000349685:V3956L	V	+	1	0	VPS13B	100956942	1.000000	0.71417	0.991000	0.47740	0.810000	0.45777	3.238000	0.51352	0.747000	0.32809	-0.150000	0.13652	GTG		0.468	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1		NM_184042	
XPC	7508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	14200007	14200007	+	Missense_Mutation	SNP	T	T	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:14200007T>A	ENST00000285021.7	-	9	1590	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	XPC_ENST00000449060.2_Missense_Mutation_p.D422V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	459	Asp/Glu-rich (acidic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.D459V(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGTTCGGAATCCTCATCAGA	0.577			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	1	Substitution - Missense(1)	kidney(1)											42.0	45.0	44.0					3																	14200007		1568	3582	5150	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1376A>T	3.37:g.14200007T>A	ENSP00000285021:p.Asp459Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523093	0.27211	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.37915	1.17;1.21	5.8	2.06	0.26882	.	0.949150	0.09000	N	0.863151	T	0.44829	0.1312	M	0.69823	2.125	0.34609	D	0.717376	P;P	0.51653	0.933;0.947	P;P	0.49665	0.618;0.599	T	0.52351	-0.8587	10	0.72032	D	0.01	-4.1093	5.9076	0.19010	0.1233:0.1341:0.0:0.7426	.	422;459	E9PH69;Q01831	.;XPC_HUMAN	V	459;422;49	ENSP00000285021:D459V;ENSP00000404002:D422V	ENSP00000285021:D459V	D	-	2	0	XPC	14175010	0.582000	0.26749	0.002000	0.10522	0.034000	0.12701	1.764000	0.38471	0.112000	0.17975	0.533000	0.62120	GAT		0.577	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3		NM_004628	
XPOT	11260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	64827305	64827305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr12:64827305C>T	ENST00000332707.5	+	19	2903	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	792	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.Q792*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTTAGAGAAGCAGATGTTGCG	0.468																																																	1	Substitution - Nonsense(1)	kidney(1)											125.0	122.0	123.0					12																	64827305		2203	4300	6503	SO:0001587	stop_gained	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2374C>T	12.37:g.64827305C>T	ENSP00000327821:p.Gln792*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	42	9.418179	0.99164	.	.	ENSG00000184575	ENST00000332707	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	.	.	.	X	792	.	.	Q	+	1	0	XPOT	63113572	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	7.655000	0.83696	2.478000	0.83669	0.650000	0.86243	CAG		0.468	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1		NM_007235	
ZBTB41	360023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197168567	197168567	+	Missense_Mutation	SNP	T	T	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:197168567T>C	ENST00000367405.4	-	1	1105	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	346					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E346G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGTTAACCCCTCATGAACATT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											119.0	115.0	116.0					1																	197168567		2203	4300	6503	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1037A>G	1.37:g.197168567T>C	ENSP00000356375:p.Glu346Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447985	0.43429	.	.	ENSG00000177888	ENST00000367405	T	0.06371	3.31	4.51	4.51	0.55191	.	0.000000	0.40222	U	0.001153	T	0.05868	0.0153	L	0.27053	0.805	0.58432	D	0.999994	B	0.27498	0.18	B	0.19946	0.027	T	0.32798	-0.9893	10	0.59425	D	0.04	.	13.8884	0.63724	0.0:0.0:0.0:1.0	.	346	Q5SVQ8	ZBT41_HUMAN	G	346	ENSP00000356375:E346G	ENSP00000356375:E346G	E	-	2	0	ZBTB41	195435190	1.000000	0.71417	0.990000	0.47175	0.847000	0.48162	4.862000	0.62976	1.673000	0.50895	0.248000	0.18094	GAG		0.373	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314	
ZFYVE27	118813	hgsc.bcm.edu;ucsc.edu	37	10	99504492	99504499	+	Frame_Shift_Del	DEL	GGTACTCA	GGTACTCA	-			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	GGTACTCA	GGTACTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:99504492_99504499delGGTACTCA	ENST00000393677.4	+	4	479_486	c.275_282delGGTACTCA	c.(274-282)tggtactcafs	p.WYS92fs	ZFYVE27_ENST00000453958.2_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000370610.3_5'UTR|ZFYVE27_ENST00000359980.3_Frame_Shift_Del_p.WYS92fs|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000337540.7_Frame_Shift_Del_p.WYS60fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Del_p.WYS92fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	92					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GCAGGTGCATGGTACTCAGTAGGTGCCC	0.577																																																	0																																										SO:0001589	frameshift_variant	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.275_282delGGTACTCA	10.37:g.99504492_99504499delGGTACTCA	ENSP00000377282:p.Trp92fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Frame_Shift_Del	DEL	ENST00000393677.4	37	CCDS31263.1																																																																																				0.577	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2		NM_144588	
ZMYM4	9202	broad.mit.edu;hgsc.bcm.edu	37	1	35836041	35836041	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:35836041G>T	ENST00000314607.6	+	7	1074	c.994G>T	c.(994-996)Gtt>Ttt	p.V332F	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Missense_Mutation_p.V332F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	332					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V332F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCTTCCTTCAGTTCCAGCCAC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											47.0	50.0	49.0					1																	35836041		2203	4300	6503	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.994G>T	1.37:g.35836041G>T	ENSP00000322915:p.Val332Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.99|16.99	3.274941|3.274941	0.59649|0.59649	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	T|T;T	0.41400|0.44881	1.0|0.91;0.91	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|T	0.43277|0.43277	0.1240|0.1240	L|L	0.54323|0.54323	1.7|1.7	0.33150|0.33150	D|D	0.545624|0.545624	.|B	.|0.24618	.|0.107	.|B	.|0.17098	.|0.017	T|T	0.53258|0.53258	-0.8464|-0.8464	7|10	0.66056|0.54805	D|T	0.02|0.06	-12.0346|-12.0346	19.4691|19.4691	0.94956|0.94956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|332	.|Q5VZL5	.|ZMYM4_HUMAN	I|F	80|332	ENSP00000400506:S80I|ENSP00000322915:V332F;ENSP00000362394:V332F	ENSP00000400506:S80I|ENSP00000322915:V332F	S|V	+|+	2|1	0|0	ZMYM4|ZMYM4	35608628|35608628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.642000|4.642000	0.61383|0.61383	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	AGT|GTT		0.403	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3		NM_005095	
ACSS1	84532	broad.mit.edu	37	20	25038626	25038633	+	Frame_Shift_Del	DEL	GCCGCCCT	GCCGCCCT	-			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	GCCGCCCT	GCCGCCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr20:25038626_25038633delGCCGCCCT	ENST00000323482.4	-	1	185_192	c.106_113delAGGGCGGC	c.(106-114)agggcggccfs	p.RAA36fs	ACSS1_ENST00000376726.3_Frame_Shift_Del_p.RAA36fs|ACSS1_ENST00000432802.2_Frame_Shift_Del_p.RAA36fs	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	36					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGTCCCGAGGCCGCCCTGCGCGGCGCG	0.798																																																	0																																										SO:0001589	frameshift_variant	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.106_113delAGGGCGGC	20.37:g.25038626_25038633delGCCGCCCT	ENSP00000316924:p.Arg36fs	Somatic		WXS	Illumina GAIIx	Phase_I	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Frame_Shift_Del	DEL	ENST00000323482.4	37	CCDS13167.1																																																																																				0.798	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2		NM_032501	
BOLA1	51027	broad.mit.edu	37	1	149871795	149871795	+	Silent	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:149871795G>T	ENST00000369153.2	+	3	847	c.183G>T	c.(181-183)ccG>ccT	p.P61P	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.P61P|BOLA1_ENST00000369150.1_Silent_p.P61P			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	61						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.P61P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGCGGTCCCGCCTGGCAGTG	0.677																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											36.0	35.0	35.0					1																	149871795		2203	4299	6502	SO:0001819	synonymous_variant	51027			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.183G>T	1.37:g.149871795G>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	ENST00000369153.2	37	CCDS939.1																																																																																				0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2		NM_016074	
CASP14	23581	broad.mit.edu	37	19	15164766	15164766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr19:15164766G>T	ENST00000427043.3	+	4	708	c.400G>T	c.(400-402)Gga>Tga	p.G134*	CASP14_ENST00000221740.1_Nonsense_Mutation_p.G134*|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	134					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.G134*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GGCCTGTCGAGGAGGTGGGGA	0.522																																																	1	Substitution - Nonsense(1)	kidney(1)											55.0	55.0	55.0					19																	15164766		2203	4300	6503	SO:0001587	stop_gained	23581				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.400G>T	19.37:g.15164766G>T	ENSP00000393417:p.Gly134*	Somatic		WXS	Illumina GAIIx	Phase_I	O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	38	6.737728	0.97801	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.0518	0.64742	0.0:0.0:1.0:0.0	.	.	.	.	X	134	.	ENSP00000221740:G134X	G	+	1	0	CASP14	15025766	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.140000	0.64807	2.383000	0.81215	0.306000	0.20318	GGA		0.522	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1		NM_012114	
CT47B1	643311	broad.mit.edu	37	X	120009111	120009111	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chrX:120009111G>T	ENST00000371311.3	-	1	668	c.414C>A	c.(412-414)aaC>aaA	p.N138K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	138								p.N138K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGATGTGGTCGTTGTGATAGA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											117.0	112.0	113.0					X																	120009111		692	1590	2282	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.414C>A	X.37:g.120009111G>T	ENSP00000360360:p.Asn138Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938897	0.34189	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.01	-0.969	0.10310	.	.	.	.	.	T	0.38268	0.1034	N	0.24115	0.695	0.09310	N	1	D	0.60160	0.987	D	0.74348	0.983	T	0.25606	-1.0127	8	0.87932	D	0	.	5.0446	0.14477	0.5797:0.0:0.4203:0.0	.	138	P0C2W7	CT47B_HUMAN	K	138	.	ENSP00000360360:N138K	N	-	3	2	CT47B1	119893139	0.116000	0.22171	0.000000	0.03702	0.068000	0.16541	0.127000	0.15790	-0.407000	0.07576	0.171000	0.16805	AAC		0.647	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1		NM_001145718	
FNBP4	23360	broad.mit.edu	37	11	47738988	47738989	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr11:47738988_47738989CC>AT	ENST00000263773.5	-	17	3051_3052	c.3039_3040GG>AT	c.(3037-3042)atGGct>atATct	p.1013_1014MA>IS	AGBL2_ENST00000525123.1_5'Flank|AGBL2_ENST00000298861.4_5'Flank|AGBL2_ENST00000528244.1_5'Flank|AGBL2_ENST00000357610.3_5'Flank|AGBL2_ENST00000529712.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	1013						nucleus (GO:0005634)		p.M1013_A1014>IS(1)|p.A1014S(1)|p.M1013I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTGTTTGGAGCCATTTTCCTTC	0.332																																																	3	Substitution - Missense(2)|Complex - compound substitution(1)	kidney(3)																																								SO:0001583	missense	23360			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.3039_3040delinsAT	11.37:g.47738988_47738989delinsAT	ENSP00000263773:p.M1013_A1014delinsIS	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	CCDS41644.1																																																																																				0.332	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			
HSD17B7P2	158160	broad.mit.edu	37	10	38645403	38645403	+	RNA	SNP	T	T	C	rs72639552	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr10:38645403T>C	ENST00000494540.1	+	0	96					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TGGTTTTGATTACCGGGGCTA	0.617													C|||	2512	0.501597	0.5303	0.5389	5008	,	,		17223	0.5724		0.5159	False		,,,				2504	0.3487																0																																												158160					10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38645403T>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000494540.1	37																																																																																					0.617	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2		NR_003086	
LMOD2	442721	broad.mit.edu	37	7	123302309	123302309	+	Missense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:123302309C>A	ENST00000458573.2	+	2	826	c.669C>A	c.(667-669)aaC>aaA	p.N223K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	223						cytoskeleton (GO:0005856)		p.N223K(1)									ACATTGAGAACATCACAACAC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											103.0	100.0	101.0					7																	123302309		2089	4221	6310	SO:0001583	missense	442721			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.669C>A	7.37:g.123302309C>A	ENSP00000411932:p.Asn223Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607813	0.66558	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.91996	-2.95	5.04	5.04	0.67666	.	.	.	.	.	D	0.94258	0.8156	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.92489	0.5999	9	0.25106	T	0.35	-16.0163	13.8187	0.63308	0.0:0.9234:0.0:0.0766	.	223	Q6P5Q4	LMOD2_HUMAN	K	223;183;194	ENSP00000411932:N223K	ENSP00000405123:N194K	N	+	3	2	LMOD2	123089545	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.060000	0.41394	2.342000	0.79632	0.586000	0.80456	AAC		0.483	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			
MEF2A	4205	broad.mit.edu	37	15	100252892	100252892	+	Frame_Shift_Del	DEL	A	A	-	rs34851361	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:100252892delA	ENST00000557785.1	+	11	1759	c.1410delA	c.(1408-1410)ccafs	p.P470fs	MEF2A_ENST00000338042.6_Frame_Shift_Del_p.P479fs|MEF2A_ENST00000558812.1_Frame_Shift_Del_p.P410fs|MEF2A_ENST00000453228.2_Frame_Shift_Del_p.P470fs|MEF2A_ENST00000354410.5_Frame_Shift_Del_p.P472fs|MEF2A_ENST00000449277.2_Frame_Shift_Del_p.P402fs|MEF2A_ENST00000557942.1_Frame_Shift_Del_p.P478fs	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	480					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TCCATTCTCCAATTGTGCTTG	0.562																																																	0													38.0	40.0	39.0					15																	100252892		2043	4192	6235	SO:0001589	frameshift_variant	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1410delA	15.37:g.100252892delA	ENSP00000453441:p.Pro470fs	Somatic		WXS	Illumina GAIIx	Phase_I	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Frame_Shift_Del	DEL	ENST00000557785.1	37	CCDS53978.1																																																																																				0.562	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																																	10	Substitution - Missense(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)											15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NOS3	4846	broad.mit.edu	37	7	150693876	150693876	+	Silent	SNP	C	C	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr7:150693876C>A	ENST00000484524.1	+	4	445	c.445C>A	c.(445-447)Cgg>Agg	p.R149R	NOS3_ENST00000467517.1_Silent_p.R149R|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Silent_p.R149R	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACGAACAGCGGCTTCAAGA	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											13.0	15.0	14.0					7																	150693876		2126	4181	6307	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.445C>A	7.37:g.150693876C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q495E5	Silent	SNP	ENST00000484524.1	37	CCDS55182.1																																																																																				0.657	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603	
PKHD1L1	93035	broad.mit.edu	37	8	110441591	110441591	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr8:110441591G>T	ENST00000378402.5	+	26	3127	c.3023G>T	c.(3022-3024)gGa>gTa	p.G1008V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1008					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G1010V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACATTATTGGAGAAAAGGCT	0.338										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	kidney(1)											69.0	60.0	63.0					8																	110441591		1850	4088	5938	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3023G>T	8.37:g.110441591G>T	ENSP00000367655:p.Gly1008Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795257	0.70452	.	.	ENSG00000205038	ENST00000378402	D	0.95482	-3.72	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.97551	0.9198	M	0.83953	2.67	0.54753	D	0.999981	D	0.89917	1.0	D	0.79784	0.993	D	0.97967	1.0341	10	0.72032	D	0.01	.	14.1861	0.65607	0.0:0.0:1.0:0.0	.	1008	Q86WI1	PKHL1_HUMAN	V	1008	ENSP00000367655:G1008V	ENSP00000367655:G1008V	G	+	2	0	PKHD1L1	110510767	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.801000	0.62532	2.498000	0.84270	0.650000	0.86243	GGA		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	
PLA2G6	8398	broad.mit.edu	37	22	38536025	38536025	+	Missense_Mutation	SNP	T	T	G			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr22:38536025T>G	ENST00000332509.3	-	5	944	c.761A>C	c.(760-762)tAc>tCc	p.Y254S	PLA2G6_ENST00000402064.1_Missense_Mutation_p.Y254S|PLA2G6_ENST00000335539.3_Missense_Mutation_p.Y254S	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	254					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)	p.Y254S(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTGGATGGGGTAGCCGTTGGG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											42.0	44.0	43.0					22																	38536025		2203	4300	6503	SO:0001583	missense	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.761A>C	22.37:g.38536025T>G	ENSP00000333142:p.Tyr254Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.93|17.93	3.510203|3.510203	0.64522|0.64522	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000427453;ENST00000452542|ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	5.69|5.69	2.22|2.22	0.28083|0.28083	.|Ankyrin repeat-containing domain (3);	.|0.238004	.|0.44483	.|D	.|0.000445	T|T	0.25158|0.25158	0.0611|0.0611	N|N	0.13371|0.13371	0.34|0.34	0.80722|0.80722	D|D	1|1	.|P;B	.|0.41188	.|0.741;0.159	.|B;B	.|0.39258	.|0.295;0.13	T|T	0.02588|0.02588	-1.1137|-1.1137	5|10	.|0.22109	.|T	.|0.4	-21.5899|-21.5899	6.4119|6.4119	0.21696|0.21696	0.2508:0.0674:0.0:0.6819|0.2508:0.0674:0.0:0.6819	.|.	.|254;254	.|O60733-2;O60733	.|.;PA2G6_HUMAN	P|S	6;85|254;115;254;254;182;254	.|ENSP00000333142:Y254S;ENSP00000335149:Y254S;ENSP00000386100:Y254S	.|ENSP00000333142:Y254S	T|Y	-|-	1|2	0|0	PLA2G6|PLA2G6	36865971|36865971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.788000|0.788000	0.44548|0.44548	2.138000|2.138000	0.42140|0.42140	0.402000|0.402000	0.25451|0.25451	0.459000|0.459000	0.35465|0.35465	ACC|TAC		0.642	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		NM_001004426	
RRN3P1	730092	broad.mit.edu	37	16	21817482	21817482	+	RNA	SNP	C	C	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr16:21817482C>T	ENST00000546471.1	-	0	1576							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CAATAATAAGCTCCAGAATTT	0.259																																																	0																																												730092					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817482C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1		NR_003370	
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:102292820G>C	ENST00000561463.1	+	0	866									DNM1 pseudogene 47									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592																																																	2	Substitution - coding silent(2)	kidney(2)																																										0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292820G>C		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000561463.1	37																																																																																					0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1		NG_009149	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																																	10	Substitution - Missense(10)	kidney(7)|prostate(2)|endometrium(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
ZMYM4	9202	broad.mit.edu	37	1	35836039	35836039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr1:35836039C>A	ENST00000314607.6	+	7	1072	c.992C>A	c.(991-993)tCa>tAa	p.S331*	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S331*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	331					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S331*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCTTCCTTCAGTTCCAGCC	0.398																																																	1	Substitution - Nonsense(1)	kidney(1)											45.0	49.0	47.0					1																	35836039		2203	4300	6503	SO:0001587	stop_gained	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.992C>A	1.37:g.35836039C>A	ENSP00000322915:p.Ser331*	Somatic		WXS	Illumina GAIIx	Phase_I	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.108607|4.108607	0.77096|0.77096	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000457946|ENST00000314607;ENST00000373297	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.374095	.|0.24793	.|N	.|0.035548	T|.	0.67439|.	0.2893|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.59402|.	-0.7461|.	3|.	.|0.17832	.|T	.|0.49	-3.9145|-3.9145	19.4691|19.4691	0.94956|0.94956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	79|331	.|.	.|ENSP00000322915:S331X	F|S	+|+	3|2	2|0	ZMYM4|ZMYM4	35608626|35608626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.993000|5.993000	0.70616|0.70616	2.613000|2.613000	0.88420|0.88420	0.591000|0.591000	0.81541|0.81541	TTC|TCA		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3		NM_005095	
ZNF516	9658	broad.mit.edu	37	18	74154244	74154244	+	Missense_Mutation	SNP	G	G	T			TCGA-AS-3778-01A-01D-0966-08	TCGA-AS-3778-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b56e923-2bc5-4368-8e28-42649d3bf169	69e373e0-a10b-4728-af8d-a45ecdb39353	g.chr18:74154244G>T	ENST00000443185.2	-	3	1084	c.767C>A	c.(766-768)gCc>gAc	p.A256D	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A256D(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGCTGAAGGCCTGGCCACA	0.687																																																	2	Substitution - Missense(2)	kidney(2)											17.0	20.0	19.0					18																	74154244		2007	4189	6196	SO:0001583	missense	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.767C>A	18.37:g.74154244G>T	ENSP00000394757:p.Ala256Asp	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000443185.2	37		.	.	.	.	.	.	.	.	.	.	G	18.16	3.562224	0.65538	.	.	ENSG00000101493	ENST00000443185	T	0.52295	0.67	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.074994	0.53938	D	0.000047	T	0.65637	0.2710	.	.	.	0.37315	D	0.909299	D	0.76494	0.999	D	0.73708	0.981	T	0.72924	-0.4144	9	0.87932	D	0	-8.9982	11.3066	0.49338	0.084:0.0:0.916:0.0	.	256	Q92618	ZN516_HUMAN	D	256	ENSP00000394757:A256D	ENSP00000394757:A256D	A	-	2	0	ZNF516	72283232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.515000	0.67049	2.508000	0.84585	0.650000	0.86243	GCC		0.687	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding			NM_014643	
