#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
ANKRD36	375248	hgsc.bcm.edu	37	2	97817617	97817617	+	Splice_Site	SNP	T	T	C	rs77391458		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr2:97817617T>C	ENST00000461153.2	+	13	1347	c.1103T>C	c.(1102-1104)aTt>aCt	p.I368T	ANKRD36_ENST00000420699.2_Splice_Site_p.I368T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	368										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTCTTCTAGATTATTTCAAAA	0.313																																																	0													153.0	111.0	124.0					2																	97817617		692	1587	2279	SO:0001630	splice_region_variant	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1102-1T>C	2.37:g.97817617T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.828790	0.00584	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.20332	2.08;2.08	1.3	-2.61	0.06171	.	.	.	.	.	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33163	-0.9879	9	0.02654	T	1	.	3.3108	0.07016	0.3035:0.4573:0.0:0.2392	.	368	A6QL64	AN36A_HUMAN	T	368	ENSP00000419530:I368T;ENSP00000391950:I368T	ENSP00000391950:I368T	I	+	2	0	ANKRD36	97181344	0.052000	0.20516	0.012000	0.15200	0.054000	0.15201	-0.848000	0.04326	-1.790000	0.01263	-1.386000	0.01163	ATT		0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			Missense_Mutation
ATAD5	79915	hgsc.bcm.edu;ucsc.edu	37	17	29161956	29161961	+	In_Frame_Del	DEL	CAATGT	CAATGT	-	rs60663953|rs80170526|rs398102309|rs72427574	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	CAATGT	CAATGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr17:29161956_29161961delCAATGT	ENST00000321990.4	+	2	1235_1240	c.857_862delCAATGT	c.(856-864)acaatgtca>aca	p.MS287del	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	287					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CCAGACTCTACAATGTCAATTTGTGT	0.354														721	0.14397	0.0703	0.1859	5008	,	,		20341	0.1359		0.1074	False		,,,				2504	0.2597																0										276,3982		14,248,1867						0.7	0.0		dbSNP_130	43	796,7436		29,738,3349	no	coding	ATAD5	NM_024857.3		43,986,5216	A1A1,A1R,RR		9.6696,6.4819,8.5829				1072,11418				SO:0001651	inframe_deletion	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.857_862delCAATGT	17.37:g.29161956_29161961delCAATGT	ENSP00000313171:p.Met287_Ser288del	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DH0|Q69YR6|Q9H9I1	In_Frame_Del	DEL	ENST00000321990.4	37	CCDS11260.1																																																																																				0.354	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857	
BGN	633	hgsc.bcm.edu;ucsc.edu	37	X	152773750	152773750	+	Silent	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chrX:152773750C>T	ENST00000331595.4	+	8	1140	c.954C>T	c.(952-954)aaC>aaT	p.N318N	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	318					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGTGTCAACGACTTCTGTC	0.622																																																	0													203.0	173.0	183.0					X																	152773750		2203	4300	6503	SO:0001819	synonymous_variant	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.954C>T	X.37:g.152773750C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	CCDS14721.1																																																																																				0.622	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1		NM_001711	
BTNL3	10917	hgsc.bcm.edu;ucsc.edu	37	5	180431709	180431709	+	Intron	SNP	C	C	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr5:180431709C>G	ENST00000342868.6	+	7	1019				RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3							integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GAGCACGGAACTGCCTGCTCT	0.547																																																	0													102.0	82.0	89.0					5																	180431709		2203	4300	6503	SO:0001627	intron_variant	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.836-27C>G	5.37:g.180431709C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q496L7|Q9Y2C7	Intron	SNP	ENST00000342868.6	37	CCDS47358.1																																																																																				0.547	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2		NM_197975	
SYNE3	161176	hgsc.bcm.edu;ucsc.edu	37	14	95932291	95932291	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr14:95932291C>T	ENST00000334258.5	-	3	618	c.604G>A	c.(604-606)Gat>Aat	p.D202N	SYNE3_ENST00000553340.1_Missense_Mutation_p.D202N|SYNE3_ENST00000557275.1_Missense_Mutation_p.D202N	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	202					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTCACTGCATCGTACTCAGCC	0.597																																																	0													136.0	107.0	117.0					14																	95932291		2203	4300	6503	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.604G>A	14.37:g.95932291C>T	ENSP00000334308:p.Asp202Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.887526	0.00527	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.09163	3.57;3.57;3.01	4.06	2.2	0.27929	.	0.834291	0.09984	N	0.730643	T	0.09555	0.0235	L	0.46157	1.445	0.20074	N	0.999934	B;B;B	0.26975	0.165;0.064;0.103	B;B;B	0.17979	0.02;0.02;0.009	T	0.38779	-0.9645	10	0.22706	T	0.39	-2.009	7.8181	0.29271	0.0:0.7376:0.0:0.2624	.	202;202;202	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	N	202	ENSP00000334308:D202N;ENSP00000450562:D202N;ENSP00000450774:D202N	ENSP00000334308:D202N	D	-	1	0	C14orf49	95002044	0.997000	0.39634	0.005000	0.12908	0.087000	0.18053	1.351000	0.34022	0.195000	0.20347	0.298000	0.19748	GAT		0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2		NM_152592	
NCOR1P1	149934	hgsc.bcm.edu	37	20	26084261	26084261	+	RNA	SNP	A	A	G	rs61752354|rs61751718	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr20:26084261A>G	ENST00000478176.1	-	0	196					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		CGGTTGCCCCAGAATTGGAGA	0.388																																																	0													32.0	24.0	26.0					20																	26084261		691	1590	2281			0			AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084261A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																					0.388	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			
CAMK2D	817	hgsc.bcm.edu;ucsc.edu	37	4	114378599	114378599	+	Missense_Mutation	SNP	C	C	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr4:114378599C>A	ENST00000342666.5	-	17	1324	c.1325G>T	c.(1324-1326)gGa>gTa	p.G442V	CAMK2D_ENST00000379773.2_Missense_Mutation_p.G442V|CAMK2D_ENST00000514328.1_Missense_Mutation_p.G441V|CAMK2D_ENST00000429180.1_Missense_Mutation_p.G462V|CAMK2D_ENST00000511664.1_Missense_Mutation_p.G476V|CAMK2D_ENST00000394524.3_Missense_Mutation_p.G442V|CAMK2D_ENST00000296402.5_Missense_Mutation_p.G442V|CAMK2D_ENST00000454265.2_Missense_Mutation_p.G467V|CAMK2D_ENST00000394526.2_Missense_Mutation_p.G453V|CAMK2D_ENST00000394522.3_Missense_Mutation_p.G456V|CAMK2D_ENST00000418639.2_Missense_Mutation_p.G456V|CAMK2D_ENST00000505990.1_Missense_Mutation_p.G476V|CAMK2D_ENST00000515496.1_Missense_Mutation_p.G453V|CAMK2D_ENST00000508738.1_Missense_Mutation_p.G453V			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	442					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTTTGGCATTCCACTGCCATC	0.488																																																	0													186.0	173.0	178.0					4																	114378599		2203	4300	6503	SO:0001583	missense	817			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1325G>T	4.37:g.114378599C>A	ENSP00000339740:p.Gly442Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	CCDS3703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.686241|4.686241	0.88639|0.88639	.|.	.|.	ENSG00000145349|ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738|ENST00000513132	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.75260|.	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86657|0.86657	0.5985|0.5985	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.991;0.991;0.996;0.993|.	D;D;D;D;D|.	0.77557|.	0.99;0.97;0.935;0.961;0.961|.	D|D	0.88147|0.88147	0.2848|0.2848	10|5	0.87932|.	D|.	0|.	.|.	20.3396|20.3396	0.98756|0.98756	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	476;453;456;442;442|.	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557|.	.;.;.;.;KCC2D_HUMAN|.	V|C	442;467;462;456;453;442;476;442;453;441;456;476;442;453|145	ENSP00000378032:G442V;ENSP00000415248:G467V;ENSP00000415707:G462V;ENSP00000406131:G456V;ENSP00000378034:G453V;ENSP00000296402:G442V;ENSP00000425824:G476V;ENSP00000339740:G442V;ENSP00000423482:G453V;ENSP00000423677:G441V;ENSP00000378030:G456V;ENSP00000424245:G476V;ENSP00000369098:G442V;ENSP00000422566:G453V|.	ENSP00000296402:G442V|.	G|W	-|-	2|3	0|0	CAMK2D|CAMK2D	114598048|114598048	0.999000|0.999000	0.42202|0.42202	0.577000|0.577000	0.28562|0.28562	0.923000|0.923000	0.55619|0.55619	5.489000|5.489000	0.66875|0.66875	2.812000|2.812000	0.96745|0.96745	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.488	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			
CCDC71	64925	hgsc.bcm.edu;ucsc.edu	37	3	49200640	49200641	+	In_Frame_Ins	INS	-	-	TTGGCC	rs78680466	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr3:49200640_49200641insTTGGCC	ENST00000321895.6	-	2	1107_1108	c.1001_1002insGGCCAA	c.(1000-1002)aaa>aaGGCCAAa	p.334_334K>KAK		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	334										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ctgccatgactttggccttggc	0.634																																																	0																																										SO:0001652	inframe_insertion	64925			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.996_1001dupGGCCAA	3.37:g.49200641_49200646dupTTGGCC	ENSP00000319006:p.AlaLys334dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IPE2|Q9H8H4|Q9H9F1	In_Frame_Ins	INS	ENST00000321895.6	37	CCDS2790.1																																																																																				0.634	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1		NM_022903	
DHRS4L2	317749	hgsc.bcm.edu	37	14	24470690	24470691	+	Frame_Shift_Ins	INS	-	-	A	rs368539076|rs374759434	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr14:24470690_24470691insA	ENST00000335125.6	+	6	755_756	c.629_630insA	c.(628-633)ctgcacfs	p.H211fs	DHRS4L2_ENST00000537912.1_Frame_Shift_Ins_p.H136fs|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000382755.4_Frame_Shift_Ins_p.H209fs|DHRS4L2_ENST00000558753.1_Frame_Shift_Ins_p.H136fs|DHRS4L2_ENST00000534993.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	209						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GTGAACTGCCTGCACCTGGACT	0.525													A|-|A|deletion	178	0.0355431	0.0076	0.0187	5008	,	,		17571	0.1022		0.0139	False		,,,				2504	0.0389																0									,,,	146,4000		28,90,1955					,,,	2.5	1.0			148	336,7912		30,276,3818	no	frameshift,frameshift,frameshift,frameshift	DHRS4L2	NM_198083.3,NM_001193637.1,NM_001193636.1,NM_001193635.1	,,,	58,366,5773	A1A1,A1R,RR		4.0737,3.5215,3.889	,,,	,,,		482,11912				SO:0001589	frameshift_variant	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	Exception_encountered	14.37:g.24470690_24470691insA	ENSP00000334801:p.His211fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q3YLD4	Frame_Shift_Ins	INS	ENST00000335125.6	37	CCDS9606.2																																																																																				0.525	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			
DYNC2H1	79659	hgsc.bcm.edu;ucsc.edu	37	11	103229004	103229004	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:103229004A>G	ENST00000375735.2	+	83	12217	c.12073A>G	c.(12073-12075)Ata>Gta	p.I4025V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I4032V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4025					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GGGCAGATCCATAACAGCTGG	0.343																																																	0													85.0	71.0	75.0					11																	103229004		1808	4077	5885	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12073A>G	11.37:g.103229004A>G	ENSP00000364887:p.Ile4025Val	Somatic		WXS	Illumina HiSeq	Phase_I	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.269874	0.23221	.	.	ENSG00000187240	ENST00000375735;ENST00000398093;ENST00000540621;ENST00000533197	T;T;T	0.37584	3.13;3.13;1.19	5.44	3.44	0.39384	Dynein heavy chain (1);	0.190213	0.33290	N	0.005067	T	0.12347	0.0300	N	0.01228	-0.945	0.23813	N	0.996775	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24728	-1.0152	10	0.21540	T	0.41	.	9.3505	0.38136	0.0777:0.0:0.7787:0.1437	.	4025;4032	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	4025;4032;271;12	ENSP00000364887:I4025V;ENSP00000381167:I4032V;ENSP00000436736:I12V	ENSP00000364887:I4025V	I	+	1	0	DYNC2H1	102734214	1.000000	0.71417	0.541000	0.28102	0.840000	0.47671	5.911000	0.69939	0.625000	0.30304	-0.337000	0.08149	ATA		0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652	
GJA5	2702	hgsc.bcm.edu;ucsc.edu	37	1	147231205	147231205	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr1:147231205C>A	ENST00000271348.2	-	2	303	c.142G>T	c.(142-144)Gag>Tag	p.E48*	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.E48*	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	48					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TCAGCCTGCTCATCCCCCCAG	0.567																																																	0													111.0	100.0	103.0					1																	147231205		2203	4300	6503	SO:0001587	stop_gained	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.142G>T	1.37:g.147231205C>A	ENSP00000271348:p.Glu48*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	37	6.571798	0.97671	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	.	.	.	X	48	.	ENSP00000271348:E48X	E	-	1	0	GJA5	145697829	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.811000	0.86092	2.724000	0.93272	0.563000	0.77884	GAG		0.567	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2		NM_181703	
GJA5	2702	hgsc.bcm.edu;ucsc.edu	37	1	147231208	147231208	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr1:147231208C>T	ENST00000271348.2	-	2	300	c.139G>A	c.(139-141)Gat>Aat	p.D47N	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.D47N	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	47					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.D47fs*2(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCCTGCTCATCCCCCCAGGAA	0.562																																																	1	Insertion - Frameshift(1)	large_intestine(1)											108.0	98.0	102.0					1																	147231208		2203	4300	6503	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.139G>A	1.37:g.147231208C>T	ENSP00000271348:p.Asp47Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374169	0.95923	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.99548	-6.14;-6.14;-6.14	5.78	5.78	0.91487	Connexin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97226	0.9881	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	47	P36382	CXA5_HUMAN	N	47	ENSP00000271348:D47N;ENSP00000358240:D47N;ENSP00000407645:D47N	ENSP00000271348:D47N	D	-	1	0	GJA5	145697832	1.000000	0.71417	0.643000	0.29450	0.994000	0.84299	7.811000	0.86092	2.724000	0.93272	0.563000	0.77884	GAT		0.562	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2		NM_181703	
HNRNPH1	3187	hgsc.bcm.edu;ucsc.edu	37	5	179043167	179043167	+	Silent	SNP	G	G	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr5:179043167G>A	ENST00000356731.5	-	11	2795	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	HNRNPH1_ENST00000510411.1_Silent_p.Y400Y|HNRNPH1_ENST00000393432.4_Silent_p.Y420Y|HNRNPH1_ENST00000511300.2_Silent_p.Y130Y|HNRNPH1_ENST00000442819.2_Silent_p.Y420Y|HNRNPH1_ENST00000329433.6_Silent_p.Y420Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	420	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						AGCCGCCTCCGTAACCCCCAC	0.478																																																	0													93.0	101.0	99.0					5																	179043167		2203	4300	6503	SO:0001819	synonymous_variant	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1260C>T	5.37:g.179043167G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KW86|D3DWQ2|Q6IBM4	Silent	SNP	ENST00000356731.5	37	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	a	0.024	-1.384885	0.01194	.	.	ENSG00000169045	ENST00000523449;ENST00000523136	.	.	.	4.98	-3.43	0.04810	.	.	.	.	.	T	0.62392	0.2424	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61855	-0.6977	4	.	.	.	-6.8837	12.9671	0.58490	0.5233:0.0:0.4767:0.0	.	.	.	.	W	88;40	.	.	R	-	1	2	HNRNPH1	178975773	0.221000	0.23642	0.989000	0.46669	0.125000	0.20455	-0.427000	0.06999	-0.463000	0.06973	-2.252000	0.00282	CGG		0.478	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3		NM_005520	
FKBP7	51661	hgsc.bcm.edu	37	2	179337645	179337645	+	Intron	SNP	A	A	T	rs373819674		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr2:179337645A>T	ENST00000424785.2	-	3	432				FKBP7_ENST00000434643.2_Intron|FKBP7_ENST00000464248.1_Intron	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7						chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ttttttttttaaaaaaaacta	0.269																																					Melanoma(26;682 927 5286 17599 46613)												0													9.0	8.0	9.0					2																	179337645		688	1532	2220	SO:0001627	intron_variant	100302152			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.374-3133T>A	2.37:g.179337645A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	RNA	SNP	ENST00000424785.2	37	CCDS2280.1																																																																																				0.269	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255783.1		NM_181342	
MUC16	94025	hgsc.bcm.edu	37	19	9018158	9018158	+	Missense_Mutation	SNP	A	A	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr19:9018158A>T	ENST00000397910.4	-	25	37983	c.37780T>A	c.(37780-37782)Tct>Act	p.S12594T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12596	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAGCCAGAGTACAGAAGG	0.537																																																	0													162.0	138.0	146.0					19																	9018158		2004	4169	6173	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37780T>A	19.37:g.9018158A>T	ENSP00000381008:p.Ser12594Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.227	0.040974	0.08196	.	.	ENSG00000181143	ENST00000397910	T	0.29142	1.58	1.86	-2.43	0.06522	.	.	.	.	.	T	0.32041	0.0816	M	0.88842	2.985	.	.	.	B	0.27166	0.17	B	0.17979	0.02	T	0.38112	-0.9676	8	0.87932	D	0	.	2.7914	0.05389	0.3277:0.2265:0.0:0.4458	.	12594	B5ME49	.	T	12594	ENSP00000381008:S12594T	ENSP00000381008:S12594T	S	-	1	0	MUC16	8879158	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-3.070000	0.00619	-0.790000	0.04492	0.164000	0.16699	TCT		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC4	4585	hgsc.bcm.edu	37	3	195507193	195507193	+	Missense_Mutation	SNP	G	G	A	rs201474621	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr3:195507193G>A	ENST00000463781.3	-	2	11717	c.11258C>T	c.(11257-11259)gCa>gTa	p.A3753V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A3753V|MUC4_ENST00000349607.4_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)			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)		ACCTGTGGATGCTGAGGAAGT	0.587																																																	0													31.0	26.0	27.0					3																	195507193		683	1583	2266	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.11258C>T	3.37:g.195507193G>A	ENSP00000417498:p.Ala3753Val	Somatic		WXS	Illumina HiSeq	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	.	.	.	.	.	.	.	.	.	.	N	4.279	0.050873	0.08243	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.49;1.5	0.885	-1.56	0.08532	.	0.000000	0.24912	U	0.034619	T	0.14184	0.0343	N	0.19112	0.55	0.09310	N	1	B	0.19200	0.034	B	0.14023	0.01	T	0.20706	-1.0267	9	.	.	.	.	5.5971	0.17333	0.2308:0.0:0.7692:0.0	rs9755674	3625	E7ESK3	.	V	3753	ENSP00000417498:A3753V;ENSP00000420243:A3753V	.	A	-	2	0	MUC4	196991972	0.009000	0.17119	0.041000	0.18516	0.025000	0.11179	0.313000	0.19415	-1.696000	0.01421	-2.092000	0.00371	GCA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC5B	727897	hgsc.bcm.edu	37	11	1272694	1272694	+	Missense_Mutation	SNP	G	G	A	rs191989562	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:1272694G>A	ENST00000529681.1	+	31	14642	c.14584G>A	c.(14584-14586)Ggt>Agt	p.G4862S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G4865S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4862	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGCCCACCGGTTCCACGGC	0.642													g|||	74	0.0147764	0.0166	0.0086	5008	,	,		19854	0.0		0.0378	False		,,,				2504	0.0082																0													80.0	100.0	93.0					11																	1272694		2148	4234	6382	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14584G>A	11.37:g.1272694G>A	ENSP00000436812:p.Gly4862Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	36	0.016483516483516484	9	0.018292682926829267	2	0.0055248618784530384	0	0.0	25	0.032981530343007916	G	5.700	0.313661	0.10789	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15603	2.41;2.59	1.92	-3.83	0.04269	.	.	.	.	.	T	0.02571	0.0078	L	0.43923	1.385	0.09310	N	1	P;P	0.41420	0.749;0.749	B;B	0.29785	0.107;0.107	T	0.08953	-1.0697	9	0.87932	D	0	.	0.5962	0.00736	0.279:0.1847:0.3499:0.1864	.	5184;4865	A7Y9J9;E9PBJ0	.;.	S	4862;4865;4806;4561	ENSP00000436812:G4862S;ENSP00000415793:G4865S	ENSP00000343037:G4806S	G	+	1	0	MUC5B	1229270	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.820000	0.00749	-1.271000	0.02430	0.134000	0.15878	GGT		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2		XM_001126093	
MYOF	26509	hgsc.bcm.edu;ucsc.edu	37	10	95139669	95139669	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr10:95139669C>T	ENST00000359263.4	-	21	1951	c.1952G>A	c.(1951-1953)aGt>aAt	p.S651N	MYOF_ENST00000358334.5_Missense_Mutation_p.S638N|MYOF_ENST00000371501.4_Missense_Mutation_p.S651N|MYOF_ENST00000371502.4_Missense_Mutation_p.S651N	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	651					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGGCGATGACTAATATCCTC	0.463																																																	0													74.0	72.0	73.0					10																	95139669		1916	4120	6036	SO:0001583	missense	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1952G>A	10.37:g.95139669C>T	ENSP00000352208:p.Ser651Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607469	0.87157	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.09	4.17	0.49024	.	0.039710	0.85682	D	0.000000	D	0.91492	0.7314	M	0.74546	2.27	0.58432	D	0.999999	P;D	0.89917	0.684;1.0	P;D	0.78314	0.464;0.991	D	0.92222	0.5785	10	0.56958	D	0.05	-17.1388	15.2377	0.73443	0.1417:0.8583:0.0:0.0	.	638;651	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	N	638;651;651;651	ENSP00000351094:S638N;ENSP00000352208:S651N;ENSP00000360556:S651N;ENSP00000360557:S651N	ENSP00000351094:S638N	S	-	2	0	MYOF	95129659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.847000	0.69451	1.458000	0.47871	0.655000	0.94253	AGT		0.463	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		NM_013451	
NCOR1	9611	hgsc.bcm.edu	37	17	15974762	15974762	+	Silent	SNP	G	G	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr17:15974762G>A	ENST00000268712.3	-	30	4370	c.4113C>T	c.(4111-4113)gtC>gtT	p.V1371V	NCOR1_ENST00000395851.1_Silent_p.V1387V|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1371	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGTGCTCTGGACCACTTCTG	0.408																																																	0													164.0	159.0	161.0					17																	15974762		2203	4300	6503	SO:0001819	synonymous_variant	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4113C>T	17.37:g.15974762G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	CCDS11175.1																																																																																				0.408	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NEFH	4744	hgsc.bcm.edu	37	22	29885587	29885588	+	In_Frame_Ins	INS	-	-	GTCCCCTGAGAAGGCCAA	rs200984527|rs267607533		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr22:29885587_29885588insGTCCCCTGAGAAGGCCAA	ENST00000310624.6	+	4	1991_1992	c.1958_1959insGTCCCCTGAGAAGGCCAA	c.(1957-1962)aagtcc>aaGTCCCCTGAGAAGGCCAAgtcc	p.653_654KS>KSPEKAKS		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	659	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAGAAGGCCAAGTCCCCAGAGA	0.564																																																	0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1941_1958dupGTCCCCTGAGAAGGCCAA	22.37:g.29885587_29885588insGTCCCCTGAGAAGGCCAA	ENSP00000311997:p.Ser648_Lys653dup	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.564	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
OR4C4P	79550	hgsc.bcm.edu;ucsc.edu	37	11	48373834	48373834	+	IGR	SNP	A	A	G	rs75261463|rs144450763		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:48373834A>G								OR4C3 (26327 upstream) : OR4C5 (13202 downstream)																							GACGGAAAAGAGTACATGGGG	0.403																																																	0													137.0	116.0	122.0					11																	48373834		692	1591	2283	SO:0001628	intergenic_variant	403257																															11.37:g.48373834A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.403									
PABPC1	26986	hgsc.bcm.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	T	-	rs112966887		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr8:101721933delT	ENST00000318607.5	-	8	2127	c.999delA	c.(997-999)aaafs	p.K333fs	AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519004.1_Frame_Shift_Del_p.K288fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Del_p.K301fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383																																																	0													58.0	53.0	54.0					8																	101721933		2203	4300	6503	SO:0001589	frameshift_variant	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.999delA	8.37:g.101721933delT	ENSP00000313007:p.Lys333fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q15097|Q93004	Frame_Shift_Del	DEL	ENST00000318607.5	37	CCDS6289.1																																																																																				0.383	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1		NM_002568	
RGS22	26166	hgsc.bcm.edu	37	8	101076166	101076180	+	In_Frame_Del	DEL	TCTTCTTCTTCTCCT	TCTTCTTCTTCTCCT	-	rs73702154|rs538962849	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	TCTTCTTCTTCTCCT	TCTTCTTCTTCTCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr8:101076166_101076180delTCTTCTTCTTCTCCT	ENST00000360863.6	-	8	1010_1024	c.816_830delAGGAGAAGAAGAAGA	c.(814-831)gaaggagaagaagaagag>gag	p.272_277EGEEEE>E	RGS22_ENST00000523287.1_In_Frame_Del_p.91_96EGEEEE>E|RGS22_ENST00000523437.1_In_Frame_Del_p.260_265EGEEEE>E	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	272	Poly-Glu.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TACAGACACCtcttcttcttctccttcttcttctt	0.367																																																	0										68,3442		33,2,1720						-4.5	0.0			100	61,7741		27,7,3867	no	coding	RGS22	NM_015668.3		60,9,5587	A1A1,A1R,RR		0.7819,1.9373,1.1404				129,11183				SO:0001651	inframe_deletion	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.816_830delAGGAGAAGAAGAAGA	8.37:g.101076166_101076180delTCTTCTTCTTCTCCT	ENSP00000354109:p.Glu272_Glu276del	Somatic		WXS	Illumina HiSeq	Phase_I	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	In_Frame_Del	DEL	ENST00000360863.6	37	CCDS43758.1																																																																																				0.367	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668	
SLC22A25	387601	hgsc.bcm.edu;ucsc.edu	37	11	62985134	62985134	+	Missense_Mutation	SNP	G	G	A			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr11:62985134G>A	ENST00000306494.6	-	3	579	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	SLC22A10_ENST00000525620.1_Intron|SLC22A25_ENST00000403374.2_Missense_Mutation_p.P28S|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGGATGGTGGGAGCAAAGGCC	0.468																																																	0													79.0	69.0	72.0					11																	62985134		2201	4298	6499	SO:0001583	missense	387601			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.580C>T	11.37:g.62985134G>A	ENSP00000307443:p.Pro194Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000306494.6	37	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927544	0.52759	.	.	ENSG00000196600	ENST00000306494;ENST00000403374	T;T	0.60548	0.54;0.18	3.2	3.2	0.36748	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.201385	0.42821	U	0.000653	T	0.71584	0.3357	M	0.75777	2.31	0.24812	N	0.99264	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.986	T	0.61496	-0.7051	10	0.51188	T	0.08	.	10.0123	0.41995	0.0:0.0:1.0:0.0	.	192;194	A4IF29;Q6T423	.;S22AP_HUMAN	S	194;28	ENSP00000307443:P194S;ENSP00000384208:P28S	ENSP00000307443:P194S	P	-	1	0	SLC22A25	62741710	1.000000	0.71417	0.089000	0.20774	0.030000	0.12068	6.272000	0.72575	1.356000	0.45884	0.530000	0.56133	CCC		0.468	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3		NM_199352	
SMPD2	6610	hgsc.bcm.edu;ucsc.edu	37	6	109763241	109763241	+	Missense_Mutation	SNP	A	A	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr6:109763241A>G	ENST00000258052.3	+	4	648	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	97					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TACCCAGCACATCTACACTCT	0.512																																																	0													233.0	227.0	229.0					6																	109763241		2203	4300	6503	SO:0001583	missense	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.289A>G	6.37:g.109763241A>G	ENSP00000258052:p.Ile97Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	A	6.514	0.463131	0.12402	.	.	ENSG00000135587	ENST00000258052	T	0.28454	1.61	5.22	2.29	0.28610	Endonuclease/exonuclease/phosphatase (2);	0.563585	0.19352	N	0.116367	T	0.03695	0.0105	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41034	-0.9531	10	0.27785	T	0.31	-17.8717	6.1025	0.20055	0.3194:0.0:0.6806:0.0	.	97	O60906	NSMA_HUMAN	V	97	ENSP00000258052:I97V	ENSP00000258052:I97V	I	+	1	0	SMPD2	109869934	0.711000	0.27906	0.735000	0.30896	0.772000	0.43724	1.140000	0.31516	0.802000	0.34089	-0.132000	0.14878	ATC		0.512	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			
SNRNP200	23020	hgsc.bcm.edu;ucsc.edu	37	2	96945256	96945256	+	Missense_Mutation	SNP	C	C	T			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr2:96945256C>T	ENST00000323853.5	-	36	5143	c.5066G>A	c.(5065-5067)gGc>gAc	p.G1689D	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1689	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTTGGCGTGGCCCACCATCTG	0.557																																																	0													87.0	69.0	75.0					2																	96945256		2203	4300	6503	SO:0001583	missense	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5066G>A	2.37:g.96945256C>T	ENSP00000317123:p.Gly1689Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	32	5.180542	0.94846	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	D	0.99824	-6.96	5.54	5.54	0.83059	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99368	4.535	0.80722	D	1	P	0.51147	0.942	P	0.62298	0.9	D	0.96106	0.9073	10	0.87932	D	0	-18.1148	18.419	0.90582	0.0:1.0:0.0:0.0	.	1689	O75643	U520_HUMAN	D	1689;148;272	ENSP00000317123:G1689D	ENSP00000317123:G1689D	G	-	2	0	SNRNP200	96308983	1.000000	0.71417	0.977000	0.42913	0.889000	0.51656	7.253000	0.78320	2.890000	0.99128	0.650000	0.86243	GGC		0.557	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2		NM_014014	
TAX1BP1	8887	hgsc.bcm.edu;ucsc.edu	37	7	27788296	27788296	+	Silent	SNP	T	T	G			TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr7:27788296T>G	ENST00000396319.2	+	2	241	c.153T>G	c.(151-153)ggT>ggG	p.G51G	TAX1BP1_ENST00000409980.1_Silent_p.G51G|TAX1BP1_ENST00000543117.1_Silent_p.G51G|TAX1BP1_ENST00000265393.6_Silent_p.G51G|TAX1BP1_ENST00000433216.2_5'UTR	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	51					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ATTGGGTTGGTATATTCAAGG	0.338																																																	0													74.0	65.0	68.0					7																	27788296		2203	4300	6503	SO:0001819	synonymous_variant	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.153T>G	7.37:g.27788296T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Silent	SNP	ENST00000396319.2	37	CCDS5415.1																																																																																				0.338	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024	
SCTR	6344	hgsc.bcm.edu	37	2	120194651	120194652	+	IGR	INS	-	-	GTGTGC	rs3217464|rs201433053|rs201077606	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr2:120194651_120194652insGTGTGC	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_In_Frame_Ins_p.70_70T>SVP|TMEM37_ENST00000409826.1_In_Frame_Ins_p.82_82T>SVP	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.T70>SVP(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CACCAACCAGACGATCTGCTTC	0.668														4489	0.896366	0.9705	0.8386	5008	,	,		15646	0.8919		0.8748	False		,,,				2504	0.864																1	Complex - insertion inframe(1)	ovary(1)								4023,213		1924,175,19						3.4	0.6		dbSNP_126	56	6958,1218		3018,922,148	no	coding	TMEM37	NM_183240.2		4942,1097,167	A1A1,A1R,RR		14.8973,5.0283,11.5292				10981,1431				SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194651_120194652insGTGTGC		Somatic		WXS	Illumina HiSeq	Phase_I	Q12961|Q13213|Q53T00	In_Frame_Ins	INS	ENST00000019103.5	37	CCDS2127.1																																																																																				0.668	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			
TTLL6	284076	hgsc.bcm.edu;ucsc.edu	37	17	46882287	46882303	+	Frame_Shift_Del	DEL	CTTTCCAAAGTCGGGCA	CTTTCCAAAGTCGGGCA	-	rs368924056|rs533233446|rs546126610	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	CTTTCCAAAGTCGGGCA	CTTTCCAAAGTCGGGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr17:46882287_46882303delCTTTCCAAAGTCGGGCA	ENST00000393382.3	-	2	295_311	c.154_170delTGCCCGACTTTGGAAAG	c.(154-171)tgcccgactttggaaagcfs	p.CPTLES52fs	TTLL6_ENST00000470462.2_5'Flank	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CCCTTCCTGGCTTTCCAAAGTCGGGCACTGTGGCATC	0.581											OREG0024527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67	0.0133786	0.0038	0.0288	5008	,	,		18879	0.002		0.0209	False		,,,				2504	0.0194																0										18,2240		3,12,1114						-9.6	0.0			72	102,4466		6,90,2188	no	frameshift	TTLL6	NM_001130918.1		9,102,3302	A1A1,A1R,RR		2.2329,0.7972,1.758				120,6706				SO:0001589	frameshift_variant	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.154_170delTGCCCGACTTTGGAAAG	17.37:g.46882287_46882303delCTTTCCAAAGTCGGGCA	ENSP00000377043:p.Cys52fs	Somatic	942	WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000393382.3	37	CCDS45724.1																																																																																				0.581	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3		NM_173623	
TYRO3	7301	hgsc.bcm.edu	37	15	41862801	41862801	+	Splice_Site	SNP	G	G	T	rs200684350	byFrequency	TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr15:41862801G>T	ENST00000263798.3	+	12	1707		c.e12-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTTCCCCACAGTGGACAGCTT	0.527																																																	0													75.0	75.0	75.0					15																	41862801		2203	4300	6503	SO:0001630	splice_region_variant	7301			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1484-1G>T	15.37:g.41862801G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O14953|Q86VR3	Splice_Site	SNP	ENST00000263798.3	37	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916766	0.73098	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4637	0.90748	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39650093	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	9.263000	0.95617	2.579000	0.87056	0.563000	0.77884	.		0.527	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			Intron
ZNF814	730051	hgsc.bcm.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-DV-5569-01A-01D-1534-10	TCGA-DV-5569-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efb1fd3e-9e43-426c-a5d2-3d58edb3dc49	5d5cc5e6-23a7-4fd8-9a5d-76dc79fbe327	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																																	10	Substitution - Missense(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)											117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708	
