#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	198	0	0	0	1	0	5	198				
CCDC96	257236	broad.mit.edu	37	4	7043726	7043726	+	Missense_Mutation	SNP	G	G	A	rs200146451		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr4:7043726G>A	ENST00000310085.4	-	1	1002	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	314										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						TGGCACTGCCGCTTCAACTGG	0.617																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(940-942)Cgg>Tgg		coiled-coil domain containing 96							77.0	80.0	79.0					4																	7043726		2202	4300	6502	SO:0001583	missense	257236							g.chr4:7043726G>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.940C>T	4.37:g.7043726G>A	ENSP00000309285:p.Arg314Trp					RP11-367J11.2_ENST00000500031.1_RNA	p.R314W	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	1002	-			314					Q8N2I7	Missense_Mutation	SNP	ENST00000310085.4	37	c.940C>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	G	6.624	0.483613	0.12581	.	.	ENSG00000173013	ENST00000310085	T	0.45276	0.9	3.89	0.865	0.19074	.	0.733045	0.12027	N	0.506360	T	0.21590	0.0520	N	0.08118	0	0.41440	D	0.987917	D	0.54207	0.965	B	0.41299	0.353	T	0.04229	-1.0967	10	0.72032	D	0.01	-14.7618	7.5905	0.28019	0.0:0.3534:0.2231:0.4236	.	314	Q2M329	CCD96_HUMAN	W	314	ENSP00000309285:R314W	ENSP00000309285:R314W	R	-	1	2	CCDC96	7094627	0.012000	0.17670	0.772000	0.31596	0.023000	0.10783	-0.006000	0.12833	-0.058000	0.13177	-0.521000	0.04368	CGG		0.617	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		4	229	0	0	0	1	0	4	229				
MYO5C	55930	broad.mit.edu	37	15	52521333	52521333	+	Silent	SNP	G	G	C			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:52521333G>C	ENST00000261839.7	-	25	3365	c.3204C>G	c.(3202-3204)gtC>gtG	p.V1068V		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1068						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTACCTTGACCTGCTTGC	0.532																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3202-3204)gtC>gtG		myosin VC							131.0	133.0	132.0					15																	52521333		1957	4129	6086	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52521333G>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3204C>G	15.37:g.52521333G>C							p.V1068V	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	25	3365	-			1068					Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.3204C>G	CCDS42036.1																																																																																				0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		80	162	0	0	0	1	0	80	162				
SYNM	23336	broad.mit.edu	37	15	99673013	99673013	+	Missense_Mutation	SNP	G	G	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:99673013G>T	ENST00000560674.1	+	5	3123	c.2654G>T	c.(2653-2655)gGt>gTt	p.G885V	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Missense_Mutation_p.G1170V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.G1482V			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1483	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGAGCTCTCGGTGTGTCTGAC	0.572																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4444-4446)gGt>gTt		synemin, intermediate filament protein							141.0	147.0	145.0					15																	99673013		2028	4184	6212	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673013G>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2654G>T	15.37:g.99673013G>T	ENSP00000453040:p.Gly885Val					SYNM_ENST00000560674.1_Missense_Mutation_p.G885V|SYNM_ENST00000328642.7_Missense_Mutation_p.G1170V|SYNM_ENST00000561323.1_3'UTR	p.G1482V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4565	+			1483			Interaction with DMD and UTRN.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.4445G>T		.	.	.	.	.	.	.	.	.	.	G	7.361	0.624904	0.14193	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;D	0.81821	2.31;-1.54	4.6	2.51	0.30379	.	.	.	.	.	T	0.71888	0.3393	.	.	.	0.09310	N	1	P;B	0.38922	0.651;0.267	B;B	0.35859	0.212;0.023	T	0.63386	-0.6649	8	0.72032	D	0.01	.	9.0276	0.36239	0.091:0.0:0.7315:0.1776	.	1483;1170	O15061;C9JIE4	SYNEM_HUMAN;.	V	1482;1170	ENSP00000336775:G1482V;ENSP00000330469:G1170V	ENSP00000330469:G1170V	G	+	2	0	SYNM	97490536	0.000000	0.05858	0.001000	0.08648	0.227000	0.25037	0.071000	0.14594	0.919000	0.36945	0.561000	0.74099	GGT		0.572	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		5	247	1	0	0.0381472	1	0.0381472	5	247				
SCAF11	9169	broad.mit.edu	37	12	46322574	46322574	+	Missense_Mutation	SNP	T	T	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr12:46322574T>A	ENST00000369367.3	-	11	1143	c.910A>T	c.(910-912)Aca>Tca	p.T304S	SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	304					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTATTTGATGTACCAGAAGTT	0.378																																						ENST00000369367.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(910-912)Aca>Tca		SR-related CTD-associated factor 11							136.0	135.0	135.0					12																	46322574		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322574T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.910A>T	12.37:g.46322574T>A	ENSP00000358374:p.Thr304Ser					SCAF11_ENST00000465950.1_5'UTR|SCAF11_ENST00000549162.1_Missense_Mutation_p.T112S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T304S	p.T304S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN			11	1143	-			304					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.910A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241894	0.58995	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.40756	1.02;1.28;1.02;1.02	6.07	0.578	0.17391	.	0.159035	0.29046	U	0.013318	T	0.25644	0.0624	L	0.32530	0.975	0.19775	N	0.99996	B;B	0.26081	0.141;0.028	B;B	0.30495	0.116;0.008	T	0.16867	-1.0388	10	0.19590	T	0.45	-2.1632	4.2341	0.10616	0.2434:0.2833:0.0:0.4734	.	112;304	F8VXG7;Q99590	.;SCAFB_HUMAN	S	304;112;304;244	ENSP00000358374:T304S;ENSP00000448864:T112S;ENSP00000413036:T304S;ENSP00000446746:T244S	ENSP00000358374:T304S	T	-	1	0	SCAF11	44608841	0.972000	0.33761	0.184000	0.23157	0.995000	0.86356	0.692000	0.25482	-0.114000	0.11936	0.477000	0.44152	ACA		0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		8	135	0	0	0	1	0	8	135				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	53	0	0	0	1	0	3	53				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	39	0	0	0	1	0	3	39				
SSH3	54961	broad.mit.edu	37	11	67076991	67076991	+	Silent	SNP	G	G	A	rs149398055		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr11:67076991G>A	ENST00000308127.4	+	11	1363	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	SSH3_ENST00000376757.5_Silent_p.T395T|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	395	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGAAGGAGACGCACCGCTTCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		21759	0.0		0.001	False		,,,				2504	0.0					ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1183-1185)acG>acA		slingshot protein phosphatase 3		G		0,4400		0,0,2200	69.0	60.0	63.0		1185	-8.4	0.4	11	dbSNP_134	63	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	SSH3	NM_017857.3		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		395/660	67076991	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67076991G>A	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1185G>A	11.37:g.67076991G>A						SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Silent_p.T395T	p.T395T	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1363	+			395			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Silent	SNP	ENST00000308127.4	37	c.1185G>A	CCDS8157.1																																																																																				0.637	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		3	55	0	0	0	1	0	3	55				
SPEF2	79925	broad.mit.edu	37	5	35700753	35700753	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:35700753C>T	ENST00000356031.3	+	16	2451	c.2297C>T	c.(2296-2298)gCg>gTg	p.A766V	SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V|SPEF2_ENST00000440995.2_Missense_Mutation_p.A761V|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	766					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGATCCTGCGACTTCCAAA	0.383																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2281-2283)gCg>gTg		sperm flagellar 2							148.0	130.0	136.0					5																	35700753		1840	4088	5928	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35700753C>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2297C>T	5.37:g.35700753C>T	ENSP00000348314:p.Ala766Val					SPEF2_ENST00000356031.3_Missense_Mutation_p.A766V|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A761V	p.A761V			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	2282	+	all_lung(31;7.56e-05)		766					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2282C>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	5.236	0.229059	0.09916	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.31510	3.38;3.23;3.37;1.49	5.67	2.93	0.34026	.	0.575006	0.18100	N	0.151701	T	0.15825	0.0381	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.18967	-1.0320	10	0.37606	T	0.19	.	7.2126	0.25941	0.0:0.5939:0.2605:0.1456	.	761;761;766	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	V	766;761;761;272	ENSP00000348314:A766V;ENSP00000421593:A761V;ENSP00000412125:A761V;ENSP00000421744:A272V	ENSP00000348314:A766V	A	+	2	0	SPEF2	35736510	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.085000	0.11250	0.326000	0.23384	-0.244000	0.11960	GCG		0.383	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		3	68	0	0	0	1	0	3	68				
SPZ1	84654	broad.mit.edu	37	5	79616461	79616461	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:79616461G>C	ENST00000296739.4	+	1	672	c.427G>C	c.(427-429)Gag>Cag	p.E143Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	143					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGGAGATGATATT	0.358																																						ENST00000296739.4																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26						c.(427-429)Gag>Cag		spermatogenic leucine zipper 1							97.0	86.0	90.0					5																	79616461		1837	4096	5933	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616461G>C		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.427G>C	5.37:g.79616461G>C	ENSP00000369611:p.Glu143Gln						p.E143Q	NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	672	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	143					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.427G>C	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	6.225	0.409715	0.11812	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.50277	0.75;1.37	0.904	0.904	0.19302	.	.	.	.	.	T	0.18676	0.0448	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.32583	0.148	T	0.10567	-1.0624	9	0.12430	T	0.62	.	3.1765	0.06570	0.3021:0.0:0.6979:0.0	.	143	Q9BXG8	SPZ1_HUMAN	Q	143	ENSP00000426530:E143Q;ENSP00000369611:E143Q	ENSP00000369611:E143Q	E	+	1	0	SPZ1	79652217	0.997000	0.39634	0.050000	0.19076	0.132000	0.20833	0.224000	0.17738	0.774000	0.33427	0.313000	0.20887	GAG		0.358	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		3	92	0	0	0	1	0	3	92				
CSMD2	114784	broad.mit.edu	37	1	34164511	34164511	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:34164511G>A	ENST00000373380.1	-	3	606	c.386C>T	c.(385-387)aCc>aTc	p.T129I	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.T1256I			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1216	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAACTTGGGGGTTCCTGGGTC	0.517																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3766-3768)aCc>aTc		CUB and Sushi multiple domains 2							64.0	61.0	62.0					1																	34164511		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34164511G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.386C>T	1.37:g.34164511G>A	ENSP00000362478:p.Thr129Ile					CSMD2_ENST00000373380.1_Missense_Mutation_p.T129I|CSMD2_ENST00000373388.2_5'UTR	p.T1256I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			24	3943	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1216			Sushi 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3767C>T		.	.	.	.	.	.	.	.	.	.	G	1.537	-0.542838	0.04053	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65178	-0.14;-0.14	5.76	2.42	0.29668	Complement control module (2);Sushi/SCR/CCP (3);	0.260649	0.38111	N	0.001819	T	0.28200	0.0696	N	0.03084	-0.415	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.004	T	0.24190	-1.0167	10	0.02654	T	1	.	5.6913	0.17831	0.4503:0.0:0.5496:0.0	.	129;1216;1256	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	I	1256;129	ENSP00000362479:T1256I;ENSP00000362478:T129I	ENSP00000241312:T1216I	T	-	2	0	CSMD2	33937098	1.000000	0.71417	0.990000	0.47175	0.572000	0.35998	6.441000	0.73439	0.909000	0.36697	-0.133000	0.14855	ACC		0.517	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		3	74	0	0	0	1	0	3	74				
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	lincRNA	SNP	A	A	G	rs9729175	byFrequency	TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562													.|||	630	0.125799	0.112	0.1282	5008	,	,		27649	0.1796		0.0656	False		,,,				2504	0.1493					ENST00000539543.1																			0																																																			0							g.chr1:148933289A>G																													1.37:g.148933289A>G								NR_027355.1						0	176	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.562	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				4	16	0	0	0	1	0	4	16				
ALK	238	broad.mit.edu	37	2	29474098	29474098	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:29474098G>A	ENST00000389048.3	-	12	2983	c.2077C>T	c.(2077-2079)Ccc>Tcc	p.P693S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	693					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GGGCCATGGGGCCCGCTGGCC	0.642			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(2077-2079)Ccc>Tcc		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						38.0	40.0	40.0					2																	29474098		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29474098G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2077C>T	2.37:g.29474098G>A	ENSP00000373700:p.Pro693Ser					ALK_ENST00000431873.1_Intron	p.P693S	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			12	2983	-	Acute lymphoblastic leukemia(172;0.155)		693					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.2077C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577008	0.65878	.	.	ENSG00000171094	ENST00000389048	T	0.77358	-1.09	5.19	5.19	0.71726	.	0.145747	0.31673	N	0.007250	D	0.82591	0.5070	M	0.62723	1.935	0.80722	D	1	D	0.58620	0.983	P	0.52598	0.703	T	0.82271	-0.0540	9	.	.	.	.	18.723	0.91703	0.0:0.0:1.0:0.0	.	693	Q9UM73	ALK_HUMAN	S	693	ENSP00000373700:P693S	.	P	-	1	0	ALK	29327602	1.000000	0.71417	0.963000	0.40424	0.229000	0.25112	6.362000	0.73077	2.583000	0.87209	0.561000	0.74099	CCC		0.642	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		3	28	0	0	0	1	0	3	28				
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5932-5934)Gac>Cac		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42.0	47.0	45.0					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His					SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D1978H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H	p.D1978H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6125	-	Medulloblastoma(35;0.163)		1978					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		3	68	0	0	0	1	0	3	68				
LONP1	9361	broad.mit.edu	37	19	5699184	5699184	+	Silent	SNP	G	G	A	rs202108466		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr19:5699184G>A	ENST00000360614.3	-	10	1696	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	LONP1_ENST00000585374.1_Silent_p.S399S|LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000593119.1_Silent_p.S449S	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCCTGGGTGGAGCCGCGGA	0.647																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1537-1539)tcC>tcT		lon peptidase 1, mitochondrial							47.0	48.0	48.0					19																	5699184		2203	4300	6503	SO:0001819	synonymous_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5699184G>A	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1539C>T	19.37:g.5699184G>A						LONP1_ENST00000593119.1_Silent_p.S449S|LONP1_ENST00000590729.1_Silent_p.S383S|LONP1_ENST00000540670.2_Silent_p.S317S|LONP1_ENST00000585374.1_Silent_p.S399S	p.S513S	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			10	1696	-			513						Silent	SNP	ENST00000360614.3	37	c.1539C>T	CCDS12148.1																																																																																				0.647	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		3	115	0	0	0	1	0	3	115				
NCK1	4690	broad.mit.edu	37	3	136646925	136646925	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:136646925A>G	ENST00000481752.1	+	2	246	c.82A>G	c.(82-84)Aga>Gga	p.R28G	NCK1_ENST00000288986.2_Missense_Mutation_p.R28G|NCK1_ENST00000469404.1_5'Flank			P16333	NCK1_HUMAN	NCK adaptor protein 1	28	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAAGAATGAGAGATTATGGCT	0.418																																						ENST00000481752.1																			0				cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						c.(82-84)Aga>Gga		NCK adaptor protein 1							129.0	119.0	122.0					3																	136646925		2203	4300	6503	SO:0001583	missense	4690				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity	g.chr3:136646925A>G	X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"""SH2 domain containing"""	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.82A>G	3.37:g.136646925A>G	ENSP00000417273:p.Arg28Gly					NCK1_ENST00000288986.2_Missense_Mutation_p.R28G	p.R28G			P16333	NCK1_HUMAN			2	246	+			28			SH3 1.		B7Z751|D3DNE3	Missense_Mutation	SNP	ENST00000481752.1	37	c.82A>G	CCDS3092.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919631	0.73098	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000491539;ENST00000485096;ENST00000476286;ENST00000488930	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.98	4.8	0.61643	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.93594	3.435	0.80722	D	1	D	0.56746	0.977	D	0.67231	0.95	T	0.76756	-0.2842	10	0.51188	T	0.08	-8.0274	10.3723	0.44062	0.6833:0.3167:0.0:0.0	.	28	P16333	NCK1_HUMAN	G	28	ENSP00000288986:R28G;ENSP00000417273:R28G;ENSP00000419302:R28G;ENSP00000419677:R28G;ENSP00000418513:R28G;ENSP00000417729:R28G	ENSP00000288986:R28G	R	+	1	2	NCK1	138129615	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.122000	0.57910	1.036000	0.39998	0.533000	0.62120	AGA		0.418	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357307.1	NM_006153		36	52	0	0	0	1	0	36	52				
APOBEC3D	140564	broad.mit.edu	37	22	39421296	39421296	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr22:39421296G>A	ENST00000216099.8	+	3	839	c.432G>A	c.(430-432)cgG>cgA	p.R144R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R144R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	144					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					GAGATTGGCGGTGGGTGCTCC	0.587																																						ENST00000216099.7																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(430-432)cgG>cgA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D							51.0	55.0	53.0					22																	39421296		2203	4300	6503	SO:0001819	synonymous_variant	140564				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr22:39421296G>A	BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.432G>A	22.37:g.39421296G>A						APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.R144R	p.R144R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN			3	839	+	Melanoma(58;0.04)		144					Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	ENST00000216099.8	37	c.432G>A	CCDS46709.1																																																																																				0.587	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321232.2	NM_152426		3	74	0	0	0	1	0	3	74				
NOX5	79400	broad.mit.edu	37	15	69327795	69327795	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:69327795C>G	ENST00000388866.3	+	6	998	c.957C>G	c.(955-957)taC>taG	p.Y319*	NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273*|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Nonsense_Mutation_p.Y301*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	319	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTATGGGCTACGTGGTAGTGG	0.607																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(901-903)taC>taG		NADPH oxidase, EF-hand calcium binding domain 5							102.0	68.0	79.0					15																	69327795		2200	4298	6498	SO:0001587	stop_gained	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327795C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.957C>G	15.37:g.69327795C>G	ENSP00000373518:p.Tyr319*					NOX5_ENST00000455873.3_Nonsense_Mutation_p.Y284*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.Y319*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Y291*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Y273*	p.Y301*			Q96PH1	NOX5_HUMAN			7	1204	+			319			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Nonsense_Mutation	SNP	ENST00000388866.3	37	c.903C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945914	0.53079	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	.	.	.	3.44	-3.36	0.04913	.	0.322034	0.29767	N	0.011257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.502	6.4084	0.21678	0.0:0.3975:0.1299:0.4726	.	.	.	.	X	284;301;319;291	.	ENSP00000373518:Y319X	Y	+	3	2	NOX5	67114849	0.971000	0.33674	0.763000	0.31416	0.509000	0.34042	0.022000	0.13511	-0.701000	0.05063	-0.672000	0.03802	TAC		0.607	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		3	90	0	0	0	1	0	3	90				
DPH1	1801	broad.mit.edu	37	17	1944859	1944859	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:1944859G>A	ENST00000263083.6	+	11	1231	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M	RP11-667K14.4_ENST00000572404.1_RNA|RP11-667K14.3_ENST00000572790.1_lincRNA|OVCA2_ENST00000572195.1_5'Flank|DPH1_ENST00000570477.1_Missense_Mutation_p.V316M	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	396					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCCCTGGACGGTGAACCACGG	0.731																																						ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1186-1188)Gtg>Atg		diphthamide biosynthesis 1							25.0	27.0	26.0					17																	1944859		1903	4102	6005	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1944859G>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.1186G>A	17.37:g.1944859G>A	ENSP00000263083:p.Val396Met					DPH1_ENST00000570477.1_Missense_Mutation_p.V316M	p.V396M	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			11	1231	+			396					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.1186G>A	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555206	0.65425	.	.	ENSG00000108963	ENST00000263083	T	0.32272	1.46	5.68	5.68	0.88126	.	0.294054	0.33040	N	0.005348	T	0.33089	0.0851	L	0.55481	1.735	0.30411	N	0.779062	B;B;B	0.33135	0.399;0.215;0.215	B;B;B	0.32465	0.101;0.146;0.101	T	0.35574	-0.9783	10	0.51188	T	0.08	-18.4066	16.9416	0.86219	0.0:0.0:1.0:0.0	.	406;406;396	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	M	396	ENSP00000263083:V396M	ENSP00000263083:V396M	V	+	1	0	DPH1	1891609	1.000000	0.71417	0.970000	0.41538	0.863000	0.49368	3.973000	0.56845	2.684000	0.91462	0.555000	0.69702	GTG		0.731	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		3	57	0	0	0	1	0	3	57				
SUPT6H	6830	broad.mit.edu	37	17	27024043	27024043	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:27024043G>A	ENST00000314616.6	+	30	4435	c.4152G>A	c.(4150-4152)cgG>cgA	p.R1384R	SUPT6H_ENST00000347486.4_Silent_p.R1384R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1384	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGGATGTGCGGGAGGAGGGCA	0.572																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4150-4152)cgG>cgA		suppressor of Ty 6 homolog (S. cerevisiae)							112.0	89.0	97.0					17																	27024043		2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27024043G>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4152G>A	17.37:g.27024043G>A						SUPT6H_ENST00000347486.4_Silent_p.R1384R	p.R1384R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			30	4435	+	Lung NSC(42;0.00431)		1384			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.4152G>A	CCDS32596.1																																																																																				0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	118	0	0	0	1	0	3	118				
TMC1	117531	broad.mit.edu	37	9	75445596	75445596	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr9:75445596C>T	ENST00000297784.5	+	23	2798	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A753V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	753	Poly-Ala.				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTGCACGAGCAGGTTGGAGA	0.323																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2257-2259)gCa>gTa		transmembrane channel-like 1							79.0	87.0	85.0					9																	75445596		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445596C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2258C>T	9.37:g.75445596C>T	ENSP00000297784:p.Ala753Val					TMC1_ENST00000340019.3_Missense_Mutation_p.A753V|TMC1_ENST00000396237.3_Missense_Mutation_p.A753V|TMC1_ENST00000486417.1_3'UTR	p.A753V	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2798	+			753			Poly-Ala.		A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2258C>T	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673001	0.67928	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.67523	-0.27;-0.27;-0.27	5.07	5.07	0.68467	.	0.174294	0.39985	N	0.001204	T	0.48314	0.1493	N	0.12182	0.205	0.40811	D	0.983425	P	0.47762	0.9	B	0.37387	0.248	T	0.55231	-0.8173	10	0.37606	T	0.19	-20.9557	17.9798	0.89137	0.0:1.0:0.0:0.0	.	753	Q8TDI8	TMC1_HUMAN	V	753;753;720;747;753	ENSP00000297784:A753V;ENSP00000341433:A753V;ENSP00000379538:A753V	ENSP00000297784:A753V	A	+	2	0	TMC1	74635416	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.382000	0.59594	2.790000	0.95986	0.650000	0.86243	GCA		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			8	20	0	0	0	1	0	8	20				
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr17:16285491C>T	ENST00000395837.1	+	2	451	c.270C>T	c.(268-270)acC>acT	p.T90T	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.T90T	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		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)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(268-270)acC>acT		ubiquitin B							75.0	76.0	75.0					17																	16285491		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285491C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.270C>T	17.37:g.16285491C>T						UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron	p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	662	+			90			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.270C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	109	0	0	0	1	0	3	109				
TRPM1	4308	broad.mit.edu	37	15	31327829	31327829	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr15:31327829G>A	ENST00000256552.6	-	21	2767	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	TRPM1_ENST00000542188.1_Missense_Mutation_p.R891W|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATCCATCCGCACCAGGATG	0.517																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2671-2673)Cgg>Tgg		transient receptor potential cation channel, subfamily M, member 1							106.0	108.0	107.0					15																	31327829		2020	4190	6210	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31327829G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2620C>T	15.37:g.31327829G>A	ENSP00000256552:p.Arg874Trp					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R852W|TRPM1_ENST00000256552.6_Missense_Mutation_p.R874W|RP11-348B17.1_ENST00000561299.1_RNA	p.R891W	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	20	2984	-		all_lung(180;1.92e-11)	852						Missense_Mutation	SNP	ENST00000256552.6	37	c.2671C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958305	0.73902	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.63417	-0.04;-0.04;-0.04	5.57	2.3	0.28687	.	0.059435	0.64402	D	0.000004	T	0.69205	0.3085	L	0.49126	1.545	0.39695	D	0.971101	D;D	0.76494	0.999;0.997	D;P	0.63957	0.92;0.834	T	0.71896	-0.4454	10	0.87932	D	0	-24.182	10.9168	0.47142	0.0:0.1002:0.5454:0.3544	.	846;852	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	852;891;874;852	ENSP00000380897:R852W;ENSP00000437849:R891W;ENSP00000256552:R874W	ENSP00000256552:R874W	R	-	1	2	TRPM1	29115121	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	3.415000	0.52700	0.678000	0.31325	0.655000	0.94253	CGG		0.517	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		4	116	0	0	0	1	0	4	116				
IL13	3596	broad.mit.edu	37	5	131995905	131995905	+	Silent	SNP	G	G	A			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr5:131995905G>A	ENST00000304506.3	+	4	386	c.372G>A	c.(370-372)gaG>gaA	p.E124E	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_3'UTR	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	124					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAAAATCGAGGTGGCCCAGT	0.478																																						ENST00000304506.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(3)	6						c.(370-372)gaG>gaA		interleukin 13							94.0	88.0	90.0					5																	131995905		2203	4300	6503	SO:0001819	synonymous_variant	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131995905G>A	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"""Interleukins and interleukin receptors"""	5973	protein-coding gene	gene with protein product	"""allergic rhinitis"", ""Bronchial hyperresponsiveness-1 (bronchial asthma)"""	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.372G>A	5.37:g.131995905G>A						IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA	p.E124E	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	386	+		all_cancers(142;0.0751)|Breast(839;0.198)	124					O43644|Q4VB52|Q9UDC7	Silent	SNP	ENST00000304506.3	37	c.372G>A	CCDS4157.1																																																																																				0.478	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		3	56	0	0	0	1	0	3	56				
ANKRD26	22852	broad.mit.edu	37	10	27332479	27332479	+	Silent	SNP	C	C	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr10:27332479C>T	ENST00000376087.4	-	20	2202	c.2037G>A	c.(2035-2037)caG>caA	p.Q679Q	ANKRD26_ENST00000376070.3_Silent_p.Q236Q|ANKRD26_ENST00000436985.2_Silent_p.Q695Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	678					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CATCCATAGACTGTATTTGGT	0.348																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(2035-2037)caG>caA		ankyrin repeat domain 26							77.0	71.0	73.0					10																	27332479		1843	4082	5925	SO:0001819	synonymous_variant	22852					centrosome		g.chr10:27332479C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2037G>A	10.37:g.27332479C>T						ANKRD26_ENST00000436985.2_Silent_p.Q695Q|ANKRD26_ENST00000376070.3_Silent_p.Q236Q	p.Q679Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			20	2202	-			678					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	ENST00000376087.4	37	c.2037G>A	CCDS41499.1																																																																																				0.348	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			13	22	0	0	0	1	0	13	22				
EPRS	2058	broad.mit.edu	37	1	220153563	220153567	+	Frame_Shift_Del	DEL	AAGTC	AAGTC	-			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr1:220153563_220153567delAAGTC	ENST00000366923.3	-	26	3840_3844	c.3571_3575delGACTT	c.(3571-3576)gacttafs	p.DL1191fs		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1191	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)	p.D1191H(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CTGAGCATATAAGTCAAGTATCTGC	0.322																																						ENST00000366923.3																			1	Substitution - Missense(1)	p.D1191H(1)	lung(1)	breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(3571-3576)afs		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)																																			SO:0001589	frameshift_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220153563_220153567delAAGTC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.3571_3575delGACTT	1.37:g.220153563_220153567delAAGTC	ENSP00000355890:p.Asp1191fs						p.DL1191fs	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	26	3840_3844	-			1191			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Frame_Shift_Del	DEL	ENST00000366923.3	37	c.3571_3575delGACTT	CCDS31027.1																																																																																				0.322	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		11	55						11	55	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910879	2910880	+	lincRNA	INS	-	-	C	rs372451833		TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr2:2910879_2910880insC	ENST00000457478.1	-	0	594																											acagccacccaccctacacctc	0.698																																						ENST00000457478.1																			0																																																			0							g.chr2:2910879_2910880insC																													2.37:g.2910882_2910882dupC														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.698	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
FAM86DP	692099	broad.mit.edu	37	3	75471435	75471435	+	RNA	DEL	C	C	-			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr3:75471435delC	ENST00000459803.1	-	0	1706					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		TGGTGAATGACCCGGGAAGCT	0.552																																						ENST00000459803.1																			0																																																			0							g.chr3:75471435delC	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471435delC								NR_024241.1						0	1706	-									RNA	DEL	ENST00000459803.1	37																																																																																						0.552	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	8						4	8	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72159820	72159821	+	RNA	INS	-	-	T			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr7:72159820_72159821insT	ENST00000435769.2	-	0	1494				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TTCCTTAGTAATTTTTTTTTTT	0.386																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72159820_72159821insT	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159831_72159831dupT										Q6NUM6	TYW1B_HUMAN			0	984	-								A6NG09|B4DFY2|Q3KQX2	RNA	INS	ENST00000435769.2	37																																																																																						0.386	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	48						7	48	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100373941	100373948	+	RNA	DEL	AGGGAGGG	AGGGAGGG	-	rs199614623|rs3991185	byFrequency	TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr7:100373941_100373948delAGGGAGGG	ENST00000348028.3	+	0	6356				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			actTGAaggaagggagggagggagggag	0.553														1320	0.263578	0.18	0.2622	5008	,	,		13263	0.2788		0.334	False		,,,				2504	0.2894					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100373941_100373948delAGGGAGGG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100373949_100373956delAGGGAGGG						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	6337	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.553	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FK-A3S3-01A-11D-A22D-08	TCGA-FK-A3S3-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15abb2a3-10a2-4e04-8eb9-6eadbd976af0	1fe18f38-fe1c-4684-b3a5-2985d577536e	g.chr16:1824298_1824300delTGC	ENST00000568449.1	+	3	443_445	c.422_424delTGC	c.(421-426)ttgctg>ttg	p.141_142LL>L	EME2_ENST00000307394.7_In_Frame_Del_p.141_142LL>L|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	141					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(421-426)ttg>t	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2																																				SO:0001651	inframe_deletion	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1824298_1824300delTGC	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.422_424delTGC	16.37:g.1824307_1824309delTGC	ENSP00000457353:p.Leu145del					EME2_ENST00000568449.1_In_Frame_Del_p.LL143del	p.LL143del			A4GXA9	EME2_HUMAN			3	422_424	+			143					Q8TEP2|Q96RY3	In_Frame_Del	DEL	ENST00000568449.1	37	c.422_424delTGC	CCDS58404.1																																																																																				0.655	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		7	196						7	196	---	---	---	---
