#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248366998C>T	ENST00000456743.1	+	1	667	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(628-630)cCt>cTt		olfactory receptor, family 2, subfamily M, member 3							284.0	278.0	280.0					1																	248366998		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366998C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.629C>T	1.37:g.248366998C>T	ENSP00000389625:p.Pro210Leu						p.P210L	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	667	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		210					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.629C>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	13.55	2.272162	0.40194	.	.	ENSG00000228198	ENST00000456743	T	0.56103	0.48	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.70885	0.3275	M	0.87547	2.89	0.09310	N	1	D	0.67145	0.996	D	0.79108	0.992	T	0.59710	-0.7403	10	0.87932	D	0	.	7.93	0.29897	0.0:0.6411:0.3589:0.0	.	210	Q8NG83	OR2M3_HUMAN	L	210	ENSP00000389625:P210L	ENSP00000389625:P210L	P	+	2	0	OR2M3	246433621	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	0.863000	0.27913	1.356000	0.45884	0.398000	0.26397	CCT		0.418	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		49	351	49	351	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	rs374215295		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr3:108819312C>T	ENST00000483760.1	-	5	309	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1_ENST00000232603.5_Missense_Mutation_p.R89Q|MORC1-AS1_ENST00000480826.1_RNA					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(265-267)cGg>cAg		MORC family CW-type zinc finger 1		C	GLN/ARG	0,4406		0,0,2203	184.0	184.0	184.0		266	3.5	0.7	3		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	MORC1	NM_014429.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	89/985	108819312	1,13005	2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108819312C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.266G>A	3.37:g.108819312C>T	ENSP00000417282:p.Arg89Gln					MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			5	348	-			89						Missense_Mutation	SNP	ENST00000483760.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	C	19.29	3.798725	0.70567	0.0	1.16E-4	ENSG00000114487	ENST00000232603;ENST00000483760	D;D	0.95035	-3.59;-3.59	5.32	3.53	0.40419	ATPase-like, ATP-binding domain (3);	0.312347	0.23631	N	0.046123	D	0.91078	0.7192	L	0.58669	1.825	0.29851	N	0.828413	P;B	0.40731	0.728;0.354	B;B	0.38156	0.266;0.219	D	0.86061	0.1532	10	0.35671	T	0.21	-3.4591	8.1909	0.31368	0.1574:0.7605:0.0:0.0821	.	89;89	E7ERX1;Q86VD1	.;MORC1_HUMAN	Q	89	ENSP00000232603:R89Q;ENSP00000417282:R89Q	ENSP00000232603:R89Q	R	-	2	0	MORC1	110302002	0.965000	0.33210	0.689000	0.30133	0.944000	0.59088	2.212000	0.42835	0.815000	0.34398	0.655000	0.94253	CGG		0.398	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			3	147	3	147	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37336290	37336290	+	Missense_Mutation	SNP	C	C	T	rs372903665		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:37336290C>T	ENST00000373479.4	+	3	464	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	91	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACAGAGCGCGTCTGGAACC	0.423																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(271-273)Cgt>Tgt		ring finger protein 8, E3 ubiquitin protein ligase							122.0	126.0	125.0					6																	37336290		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336290C>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.271C>T	6.37:g.37336290C>T	ENSP00000362578:p.Arg91Cys					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C	p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	464	+			91			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.271C>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393911	0.62066	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;D;D	0.89746	-2.56;-2.56;-2.56	5.85	4.99	0.66335	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.058435	0.64402	D	0.000002	D	0.89301	0.6676	H	0.97918	4.105	0.80722	D	1	P;B	0.43024	0.798;0.348	B;B	0.36608	0.229;0.178	D	0.90870	0.4745	10	0.87932	D	0	-7.0622	8.9192	0.35601	0.1479:0.778:0.0:0.0741	.	34;91	C9J858;O76064	.;RNF8_HUMAN	C	91;34;91	ENSP00000362578:R91C;ENSP00000417736:R34C;ENSP00000418879:R91C	ENSP00000362578:R91C	R	+	1	0	RNF8	37444268	1.000000	0.71417	0.970000	0.41538	0.542000	0.35054	5.192000	0.65115	1.484000	0.48361	0.655000	0.94253	CGT		0.423	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			3	139	3	139	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75855959	75855959	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:75855959C>A	ENST00000322507.8	-	24	4728	c.4419G>T	c.(4417-4419)ttG>ttT	p.L1473F	COL12A1_ENST00000416123.2_Splice_Site_p.L1473F|COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1473	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGCACTGGCACTTCCAAAA	0.418																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(4417-4419)ttG>ttT		collagen, type XII, alpha 1							69.0	64.0	66.0					6																	75855959		1979	4169	6148	SO:0001630	splice_region_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75855959C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4418-1G>T	6.37:g.75855959C>A						COL12A1_ENST00000416123.2_Splice_Site_p.L1473F|COL12A1_ENST00000483888.2_Splice_Site_p.L1473F|COL12A1_ENST00000345356.6_Splice_Site_p.L309F	p.L1473F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			24	4728	-			1473					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Splice_Site	SNP	ENST00000322507.8	37	c.4419G>T	CCDS43482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.89|14.89	2.669191|2.669191	0.47677|0.47677	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000419671|ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.|T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54	4.89|4.89	3.11|3.11	0.35812|0.35812	.|Fibronectin, type III (1);	.|0.466770	.|0.21061	.|N	.|0.080827	T|T	0.49609|0.49609	0.1567|0.1567	M|M	0.81497|0.81497	2.545|2.545	0.33832|0.33832	D|D	0.630412|0.630412	.|D;P	.|0.57571	.|0.98;0.737	.|P;B	.|0.53450	.|0.726;0.336	T|T	0.54503|0.54503	-0.8284|-0.8284	5|10	.|0.52906	.|T	.|0.07	.|.	7.6672|7.6672	0.28439|0.28439	0.1326:0.7221:0.0:0.1453|0.1326:0.7221:0.0:0.1453	.|.	.|309;1473	.|Q99715-2;Q99715	.|.;COCA1_HUMAN	S|F	215|1473;1473;309;1473;1473	.|ENSP00000325146:L1473F;ENSP00000305147:L309F;ENSP00000412864:L1473F;ENSP00000421216:L1473F	.|ENSP00000325146:L1473F	A|L	-|-	1|3	0|2	COL12A1|COL12A1	75912679|75912679	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.620000|0.620000	0.37586|0.37586	0.904000|0.904000	0.28491|0.28491	0.592000|0.592000	0.29728|0.29728	0.655000|0.655000	0.94253|0.94253	GCC|TTG		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	Missense_Mutation	4	26	4	26	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81591292	81591292	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr7:81591292A>C	ENST00000356253.5	-	36	3175	c.2920T>G	c.(2920-2922)Tgc>Ggc	p.C974G	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.C962G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	974					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAGTAATGCAGCTCTGCTTG	0.448																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2884-2886)Tgc>Ggc		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						133.0	124.0	127.0					7																	81591292		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591292A>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2920T>G	7.37:g.81591292A>C	ENSP00000348589:p.Cys974Gly					CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G	p.C962G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3222	-			974					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2884T>G		.	.	.	.	.	.	.	.	.	.	A	24.0	4.482416	0.84747	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.78595	-1.19;-1.19;-1.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.83603	2.65	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90465	0.4449	10	0.87932	D	0	-13.6937	15.3769	0.74615	1.0:0.0:0.0:0.0	.	174;962	B7Z658;P54289-2	.;.	G	962;981;974;174	ENSP00000349320:C962G;ENSP00000348589:C974G;ENSP00000443124:C174G	ENSP00000284088:C981G	C	-	1	0	CACNA2D1	81429228	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.841000	0.92131	2.093000	0.63338	0.529000	0.55759	TGC		0.448	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				10	57	10	57	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89128877	89128877	+	Silent	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:89128877C>T	ENST00000286614.6	-	6	1223	c.942G>A	c.(940-942)ccG>ccA	p.P314P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	314					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P314P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTGGGTCAGCCGGAGGAATAG	0.537																																						ENST00000286614.6																			1	Substitution - coding silent(1)	p.P314P(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(940-942)ccG>ccA		matrix metallopeptidase 16 (membrane-inserted)							201.0	204.0	203.0					8																	89128877		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89128877C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.942G>A	8.37:g.89128877C>T						MMP16_ENST00000544227.1_5'UTR	p.P314P	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			6	1223	-			314					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.942G>A	CCDS6246.1																																																																																				0.537	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		22	179	22	179	---	---	---	---
KIF11	3832	broad.mit.edu	37	10	94405250	94405250	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:94405250C>T	ENST00000260731.3	+	18	2488	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	800					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGTGAAACACTCTGATAA	0.353																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2398-2400)Cac>Tac		kinesin family member 11							68.0	69.0	69.0					10																	94405250		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94405250C>T	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.2398C>T	10.37:g.94405250C>T	ENSP00000260731:p.His800Tyr						p.H800Y	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			18	2488	+			800					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.2398C>T	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	0.797	-0.756724	0.03019	.	.	ENSG00000138160	ENST00000260731	T	0.72505	-0.66	6.08	2.24	0.28232	.	0.561084	0.21064	N	0.080764	T	0.54175	0.1842	L	0.29908	0.895	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.44375	-0.9332	10	0.42905	T	0.14	.	7.4033	0.26977	0.0:0.6682:0.0:0.3318	.	800	P52732	KIF11_HUMAN	Y	800	ENSP00000260731:H800Y	ENSP00000260731:H800Y	H	+	1	0	KIF11	94395230	0.223000	0.23663	0.048000	0.18961	0.106000	0.19336	0.240000	0.18042	0.467000	0.27218	-0.216000	0.12614	CAC		0.353	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		4	46	4	46	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20482441	20482441	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr14:20482441G>C	ENST00000305045.2	-	1	911	c.912C>G	c.(910-912)aaC>aaG	p.N304K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACCCGTCGGTTTTGCAGTT	0.358																																						ENST00000305045.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37						c.(910-912)aaC>aaG		olfactory receptor, family 4, subfamily K, member 14							103.0	106.0	105.0					14																	20482441		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482441G>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.912C>G	14.37:g.20482441G>C	ENSP00000305011:p.Asn304Lys						p.N304K	NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	911	-	all_cancers(95;0.00108)		304					Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.912C>G	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	5.095	0.203149	0.09704	.	.	ENSG00000169484	ENST00000305045	T	0.35048	1.33	4.01	-1.63	0.08345	.	0.740232	0.11429	N	0.565010	T	0.10723	0.0262	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.29488	-1.0010	10	0.07813	T	0.8	.	3.5422	0.07815	0.2973:0.0:0.2263:0.4764	.	304	Q8NGD5	OR4KE_HUMAN	K	304	ENSP00000305011:N304K	ENSP00000305011:N304K	N	-	3	2	OR4K14	19552281	0.825000	0.29262	0.001000	0.08648	0.165000	0.22458	0.327000	0.19663	-0.630000	0.05567	0.505000	0.49811	AAC		0.358	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			5	142	5	142	---	---	---	---
USP50	373509	broad.mit.edu	37	15	50833426	50833426	+	Silent	SNP	T	T	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:50833426T>C	ENST00000532404.1	-	4	653	c.480A>G	c.(478-480)ggA>ggG	p.G160G	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	165	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTAGATCCTTTCTCAT	0.393																																						ENST00000532404.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13						c.(478-480)ggA>ggG		ubiquitin specific peptidase 50							111.0	106.0	107.0					15																	50833426		1916	4123	6039	SO:0001819	synonymous_variant	373509				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr15:50833426T>C	AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.480A>G	15.37:g.50833426T>C						USP50_ENST00000530218.1_Intron	p.G160G	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN		all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)	4	653	-			160					E9PP86	Silent	SNP	ENST00000532404.1	37	c.480A>G	CCDS53944.1																																																																																				0.393	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			3	75	3	75	---	---	---	---
WDR83	84292	broad.mit.edu	37	19	12780686	12780686	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:12780686G>A	ENST00000418543.3	+	3	431	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000222190.5_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	28					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCAGGGGGCAGTGCGAGCCGT	0.637																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(82-84)Gtg>Atg		WD repeat domain 83							56.0	67.0	63.0					19																	12780686		2202	4300	6502	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780686G>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.82G>A	19.37:g.12780686G>A	ENSP00000402653:p.Val28Met					WDR83_ENST00000242796.4_Missense_Mutation_p.V28M|WDR83OS_ENST00000596731.1_5'UTR	p.V28M	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			3	431	+			28					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.82G>A	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813952	0.90790	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.73897	-0.79;-0.79	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053141	0.64402	D	0.000001	D	0.88362	0.6416	M	0.90705	3.14	0.58432	D	0.999999	D	0.69078	0.997	D	0.67900	0.954	D	0.90581	0.4529	10	0.87932	D	0	.	17.9165	0.88953	0.0:0.0:1.0:0.0	.	28	Q9BRX9	WDR83_HUMAN	M	28	ENSP00000402653:V28M;ENSP00000242796:V28M	ENSP00000242796:V28M	V	+	1	0	WDR83	12641686	1.000000	0.71417	0.988000	0.46212	0.942000	0.58702	6.127000	0.71642	2.709000	0.92574	0.655000	0.94253	GTG		0.637	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		3	137	3	137	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49671826	49671826	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49671826G>A	ENST00000252826.5	+	6	755	c.629G>A	c.(628-630)aGg>aAg	p.R210K	TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	210					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCCCTGCGAGGTACCGGTGG	0.647																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(628-630)aGg>aAg		transient receptor potential cation channel, subfamily M, member 4							52.0	50.0	51.0					19																	49671826		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49671826G>A	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.629G>A	19.37:g.49671826G>A	ENSP00000252826:p.Arg210Lys					TRPM4_ENST00000355712.5_5'UTR|TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K	p.R210K	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	6	755	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	210					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.629G>A	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	G	3.030	-0.199895	0.06219	.	.	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.59906	0.23;0.23	5.06	-2.13	0.07144	.	0.381469	0.25932	N	0.027361	T	0.25457	0.0619	N	0.12182	0.205	0.09310	N	0.999995	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.004;0.004;0.001	T	0.28713	-1.0035	10	0.02654	T	1	-11.9865	5.5276	0.16967	0.382:0.1339:0.4841:0.0	.	36;210;210	Q8TD43-2;Q8TD43-3;Q8TD43	.;.;TRPM4_HUMAN	K	210	ENSP00000252826:R210K;ENSP00000407492:R210K	ENSP00000252826:R210K	R	+	2	0	TRPM4	54363638	0.004000	0.15560	0.002000	0.10522	0.001000	0.01503	0.407000	0.21049	-0.176000	0.10707	-1.371000	0.01190	AGG		0.647	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	94	3	94	---	---	---	---
SON	6651	broad.mit.edu	37	21	34931659	34931659	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:34931659A>C	ENST00000356577.4	+	5	6920	c.6445A>C	c.(6445-6447)Aaa>Caa	p.K2149Q	SON_ENST00000300278.4_Missense_Mutation_p.K2149Q|SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2149					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAACCCAAACCTATTTT	0.323																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6445-6447)Aaa>Caa		SON DNA binding protein							144.0	148.0	147.0					21																	34931659		2203	4298	6501	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931659A>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6445A>C	21.37:g.34931659A>C	ENSP00000348984:p.Lys2149Gln					SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q	p.K2149Q	NM_138927.1	NP_620305	P18583	SON_HUMAN			5	6920	+			2149					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6445A>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238878	0.39598	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000421541	T;T;T	0.11930	2.78;2.76;2.73	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000018	T	0.32763	0.0840	L	0.50333	1.59	0.43846	D	0.996436	D;D;D;D;D	0.89917	1.0;0.985;0.999;1.0;1.0	D;P;D;D;D	0.91635	0.999;0.636;0.994;0.999;0.997	T	0.02275	-1.1184	10	0.66056	D	0.02	.	15.7192	0.77694	1.0:0.0:0.0:0.0	.	2149;177;2149;1830;2149	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3	.;.;SON_HUMAN;.;.	Q	2149;2149;177;2149;210	ENSP00000348984:K2149Q;ENSP00000290239:K2149Q;ENSP00000300278:K2149Q	ENSP00000290239:K2149Q	K	+	1	0	SON	33853529	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.524000	0.81866	2.175000	0.68902	0.528000	0.53228	AAA		0.323	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		12	95	12	95	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42843813	42843813	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:42843813A>T	ENST00000332149.5	-	10	1129	c.995T>A	c.(994-996)aTt>aAt	p.I332N	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000398585.3_Missense_Mutation_p.I369N	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	332	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGGATGAGAAATCACTTTTTC	0.458			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1105-1107)aTt>aAt		transmembrane protease, serine 2							167.0	155.0	159.0					21																	42843813		2202	4299	6501	SO:0001583	missense	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42843813A>T	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.995T>A	21.37:g.42843813A>T	ENSP00000330330:p.Ile332Asn					TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N	p.I369N	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			10	1166	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	332			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	c.1106T>A	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	A	15.44	2.835637	0.50951	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.29	5.29	0.74685	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000002	D	0.95865	0.8654	M	0.89904	3.07	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96543	0.9402	10	0.87932	D	0	.	13.198	0.59749	1.0:0.0:0.0:0.0	.	369;332	F8WES1;O15393	.;TMPS2_HUMAN	N	332;369;332;332	ENSP00000330330:I332N;ENSP00000381588:I369N;ENSP00000391216:I332N;ENSP00000389006:I332N	ENSP00000330330:I332N	I	-	2	0	TMPRSS2	41765683	1.000000	0.71417	0.223000	0.23860	0.119000	0.20118	7.852000	0.86927	1.998000	0.58463	0.533000	0.62120	ATT		0.458	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			3	56	3	56	---	---	---	---
