#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
TGFBRAP1	9392	broad.mit.edu	37	2	105890086	105890086	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr2:105890086G>T	ENST00000393359.2	-	9	2153	c.1727C>A	c.(1726-1728)cCa>cAa	p.P576Q	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P576Q			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	576					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AATGTCGTCTGGATTAAAACT	0.433																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2											0			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1726-1728)cCa>cAa	transforming growth factor, beta receptor associated protein 1						215.0	206.0	209.0					2																	105890086		2203	4300	6503	SO:0001583	missense	9392			regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105890086G>T	AF022795	AF022795	CCDS2067.1	CCDS2067.1	2q12.1	2008-02-05			2008-02-05			ENSG00000135966	ENSG00000135966	ENSG00000135966	ENSG00000135966				16836	16836	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606237	606237						9545258, 11278302	9545258, 11278302	Standard	Standard	NM_001142621	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	uc002tcr.4	Q8WUH2	Q8WUH2	OTTHUMG00000130809	OTTHUMG00000130809	ENST00000393359.2:c.1727C>A	2.37:g.105890086G>T	ENSP00000377027:p.Pro576Gln		TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P576Q	p.P576Q			Q8WUH2	TGFA1_HUMAN			9	2153	-			576		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.1727C>A	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823339	0.50739	.	.	ENSG00000135966	ENST00000393359;ENST00000258449;ENST00000543724	T;T	0.19806	2.12;2.12	5.58	4.7	0.59300	5.58	4.7	0.59300	.	0.053943	0.85682	D	0.000000	T	0.49729	0.1574	M	0.90145	3.09	0.49483	D	0.999793	D;P	0.89917	1.0;0.952	D;P	0.81914	0.995;0.88	T	0.56038	-0.8045	10	0.19590	T	0.45	-14.4711	12.6216	0.56605	0.0768:0.0:0.9232:0.0	.	31;576	B3KMM9;Q8WUH2	.;TGFA1_HUMAN	Q	576;576;31	ENSP00000377027:P576Q;ENSP00000258449:P576Q	ENSP00000258449:P576Q	P	-	2	0	0	TGFBRAP1	105256518	105256518	1.000000	0.71417	0.365000	0.25901	0.087000	0.18053	9.011000	0.93618	1.351000	0.45789	0.591000	0.81541	CCA		0.433	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		-6.521593	-1	-1	63	63	NM_004257		3	6.639394	6.639394	58	0.049180	1	0	1	1	1	3	58	0.04918
PPP1R3A	5506	broad.mit.edu	37	7	113517782	113517782	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr7:113517782T>C	ENST00000284601.3	-	4	3433	c.3365A>G	c.(3364-3366)aAg>aGg	p.K1122R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1122					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGTTACTTCTTTTTGAC	0.383																																						ENST00000284601.3											0			NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3364-3366)aAg>aGg	protein phosphatase 1, regulatory subunit 3A						95.0	96.0	96.0					7																	113517782		2203	4299	6502	SO:0001583	missense	5506			glycogen metabolic process	integral to membrane		g.chr7:113517782T>C	AF024578	AF024578	CCDS5759.1	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	9291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	7926294	Standard	Standard	NM_002711	NM_002711		Approved	GM	uc010ljy.1	uc010ljy.1	Q16821	Q16821	OTTHUMG00000156944	OTTHUMG00000156944	ENST00000284601.3:c.3365A>G	7.37:g.113517782T>C	ENSP00000284601:p.Lys1122Arg			p.K1122R	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3433	-			1122		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3365A>G	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392859	0.62066	.	.	ENSG00000154415	ENST00000284601	T	0.29142	1.58	5.74	5.74	0.90152	5.74	5.74	0.90152	.	0.115334	0.43416	D	0.000571	T	0.42449	0.1203	L	0.27053	0.805	0.30118	N	0.805949	D	0.76494	0.999	D	0.66084	0.941	T	0.44081	-0.9351	10	0.72032	D	0.01	.	16.0249	0.80536	0.0:0.0:0.0:1.0	.	1122	Q16821	PPR3A_HUMAN	R	1122	ENSP00000284601:K1122R	ENSP00000284601:K1122R	K	-	2	0	0	PPP1R3A	113305018	113305018	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.249000	0.65427	2.181000	0.69327	0.528000	0.53228	AAG		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		-7.029345	-6	-6	108	108	NM_002711		3	6.417819	6.417819	59	0.048387	0	0	0	1	0	3	59	0.048387
SLC7A2	6542	broad.mit.edu	37	8	17417930	17417930	+	Silent	SNP	C	C	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr8:17417930C>A	ENST00000494857.1	+	10	1610	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	SLC7A2_ENST00000004531.10_Silent_p.S504S|SLC7A2_ENST00000398090.3_Silent_p.S503S|SLC7A2_ENST00000470360.1_Silent_p.S503S|SLC7A2_ENST00000522656.1_Silent_p.S464S	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	464					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAGTGAGTCCCAGGTCACCA	0.552																																						ENST00000470360.1											0			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1507-1509)tcC>tcA	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						122.0	114.0	116.0					8																	17417930		2203	4300	6503	SO:0001819	synonymous_variant	6542			cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17417930C>A	D29990	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			2013-05-22			ENSG00000003989	ENSG00000003989	ENSG00000003989	ENSG00000003989		"""Solute carriers"""	"""Solute carriers"""	11060	11060	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601872	601872		ATRC2		ATRC2		8954799	8954799	Standard	Standard	NM_001164771	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	uc011kye.2	P52569	P52569	OTTHUMG00000130819	OTTHUMG00000130819	ENST00000494857.1:c.1392C>A	8.37:g.17417930C>A			SLC7A2_ENST00000522656.1_Silent_p.S464S|SLC7A2_ENST00000004531.10_Silent_p.S504S|SLC7A2_ENST00000398090.3_Silent_p.S503S|SLC7A2_ENST00000494857.1_Silent_p.S464S	p.S503S			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1626	+			464		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1509C>A	CCDS34852.1																																																																																									0.552	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		128.631706	-9	-9	59	59	NM_003046		39	128.65808	128.658080	36	0.520000	1	0	5.71845e-15	1	6.86214e-15	39	36	0.52
MICU1	10367	broad.mit.edu	37	10	74322810	74322810	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr10:74322810T>A	ENST00000361114.5	-	3	269	c.173A>T	c.(172-174)gAa>gTa	p.E58V	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.E58V|MICU1_ENST00000398761.4_Missense_Mutation_p.E58V	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	58					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TGGTGGAGATTCTGCATGGGC	0.388																																						ENST00000398761.4											0										c.(172-174)gAa>gTa	mitochondrial calcium uptake 1						130.0	109.0	116.0					10																	74322810		1863	4109	5972	SO:0001583	missense	10367			calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74322810T>A	Y17711	Y17711	CCDS55714.1, CCDS55715.1	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	"""EF-hand domain containing"""	1530	1530	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605084	605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	9806765, 20693986	Standard	Standard	NM_006077	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	uc001jtb.2	Q9BPX6	Q9BPX6	OTTHUMG00000018437	OTTHUMG00000018437	ENST00000361114.5:c.173A>T	10.37:g.74322810T>A	ENSP00000354415:p.Glu58Val		MICU1_ENST00000361114.5_Missense_Mutation_p.E58V|MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.E58V	p.E58V			Q9BPX6	MICU1_HUMAN			3	305	-			58		A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.173A>T	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788425	0.70337	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	D;D;D	0.82255	-1.59;-1.59;-1.59	5.5	5.5	0.81552	5.5	5.5	0.81552	.	0.047096	0.85682	D	0.000000	D	0.84447	0.5474	L	0.58101	1.795	0.80722	D	1	D	0.59357	0.985	P	0.54590	0.756	T	0.81099	-0.1086	10	0.11794	T	0.64	.	13.2708	0.60159	0.0:0.0:0.0:1.0	.	58	Q9BPX6	MICU1_HUMAN	V	58	ENSP00000354415:E58V;ENSP00000381745:E58V;ENSP00000384068:E58V	ENSP00000354415:E58V	E	-	2	0	0	MICU1	73992816	73992816	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.116000	0.57871	2.216000	0.71823	0.460000	0.39030	GAA		0.388	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1		13.769143	-1	-1	31	31	NM_006077		5	14.269912	14.269912	11	0.312500	0	0	0	1	0	5	11	0.3125
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		31.925513	-11	-11	70	70	NM_002067		11	32.731604	32.731604	22	0.333333	0	0	0	1	0	11	22	0.333333
PLCE1	51196	broad.mit.edu	37	10	95891952	95891952	+	Missense_Mutation	SNP	G	G	C	rs145451189	byFrequency	TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr10:95891952G>C	ENST00000371380.3	+	2	1463	c.1228G>C	c.(1228-1230)Gaa>Caa	p.E410Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.E102Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E410Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E102Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	410					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTGAGAAGAGAAGAAACAGA	0.408																																						ENST00000371380.3											0			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(1228-1230)Gaa>Caa	phospholipase C, epsilon 1						122.0	120.0	120.0					10																	95891952		1953	4156	6109	SO:0001583	missense	51196			activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95891952G>C			CCDS41552.1, CCDS53555.1	CCDS41552.1, CCDS53555.1	10q23	2010-02-22			2010-02-22			ENSG00000138193	ENSG00000138193	ENSG00000138193	ENSG00000138193	3.1.4.11			17175	17175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nephrosis type 3"""	"""nephrosis type 3"""	608414	608414						11022047, 11022048	11022047, 11022048	Standard	Standard	NM_016341	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	uc001kjk.3	Q9P212	Q9P212	OTTHUMG00000018789	OTTHUMG00000018789	ENST00000371380.3:c.1228G>C	10.37:g.95891952G>C	ENSP00000360431:p.Glu410Gln		PLCE1_ENST00000371385.3_Missense_Mutation_p.E102Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.E410Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.E102Q	p.E410Q			Q9P212	PLCE1_HUMAN			2	1463	+		Colorectal(252;0.0458)			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1228G>C	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799554	0.50208	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.08	5.08	0.68730	5.08	5.08	0.68730	Ras guanine nucleotide exchange factor, domain (1);	0.306355	0.27159	N	0.020644	T	0.73094	0.3543	N	0.24115	0.695	0.31020	N	0.71818	B;D;P	0.58620	0.031;0.983;0.454	B;P;B	0.54499	0.01;0.754;0.107	T	0.75991	-0.3122	10	0.62326	D	0.03	.	16.0129	0.80417	0.0:0.0:1.0:0.0	.	410;102;410	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	410;410;102;102	ENSP00000260766:E410Q;ENSP00000360431:E410Q;ENSP00000360438:E102Q;ENSP00000360426:E102Q	ENSP00000260766:E410Q	E	+	1	0	0	PLCE1	95881942	95881942	1.000000	0.71417	0.966000	0.40874	0.873000	0.50193	2.203000	0.42752	2.512000	0.84698	0.563000	0.77884	GAA		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		20.881245	16	16	49	49	NM_016341		8	23.246658	23.246658	27	0.228571	0	0	0	1	0	8	27	0.228571
KDM6A	7403	broad.mit.edu	37	X	44918345	44918345	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chrX:44918345A>G	ENST00000377967.4	+	11	1011	c.970A>G	c.(970-972)Ata>Gta	p.I324V	KDM6A_ENST00000536777.1_Missense_Mutation_p.I324V|KDM6A_ENST00000543216.1_Missense_Mutation_p.I324V|KDM6A_ENST00000382899.4_Missense_Mutation_p.I324V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	324	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATGGTGTTCAATAGGGTAAGC	0.318			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(970-972)Ata>Gta	lysine (K)-specific demethylase 6A						91.0	80.0	84.0					X																	44918345		2203	4300	6503	SO:0001583	missense	7403			histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918345A>G	AF000992	AF000992	CCDS14265.1	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	12637	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300128	300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	9499428, 9381176	Standard	Standard	XM_005272655	XM_005272655		Approved		uc004dge.4	uc004dge.4	O15550	O15550	OTTHUMG00000021402	OTTHUMG00000021402	ENST00000377967.4:c.970A>G	X.37:g.44918345A>G	ENSP00000367203:p.Ile324Val		KDM6A_ENST00000536777.1_Missense_Mutation_p.I324V|KDM6A_ENST00000543216.1_Missense_Mutation_p.I324V|KDM6A_ENST00000382899.4_Missense_Mutation_p.I324V	p.I324V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			11	1011	+			324		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.970A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.438109	0.62955	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.52754	2.17;2.17;0.65;2.17	5.1	5.1	0.69264	5.1	5.1	0.69264	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	M	0.78801	2.425	0.47094	D	0.99931	P;B;P;P;P	0.47604	0.65;0.348;0.514;0.898;0.543	P;B;P;D;P	0.68192	0.743;0.391;0.525;0.956;0.525	T	0.73313	-0.4022	10	0.87932	D	0	-13.455	14.1992	0.65690	1.0:0.0:0.0:0.0	.	324;324;324;324;324	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	V	324	ENSP00000367203:I324V;ENSP00000437405:I324V;ENSP00000372355:I324V;ENSP00000443078:I324V	ENSP00000367203:I324V	I	+	1	0	0	KDM6A	44803289	44803289	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.910000	0.92685	1.799000	0.52666	0.417000	0.27973	ATA		0.318	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		88.292649	-40	-40	39	39	NM_021140		25	90.625249	90.625249	7	0.781250	0	0	0	1	0	25	7	0.78125
MPP1	4354	broad.mit.edu	37	X	154014531	154014531	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chrX:154014531C>T	ENST00000369534.3	-	6	772	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000393531.1_Missense_Mutation_p.G189S|MPP1_ENST00000413259.3_Missense_Mutation_p.G179S	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	209	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGGAGGAGCCTTCCACCCGT	0.532																																						ENST00000413259.3											0			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21						c.(535-537)Ggc>Agc	membrane protein, palmitoylated 1, 55kDa						217.0	190.0	199.0					X																	154014531		2203	4300	6503	SO:0001583	missense	4354			regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154014531C>T			CCDS14762.1, CCDS55544.1, CCDS55545.1	CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830	ENSG00000130830	ENSG00000130830				7219	7219	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			305360	305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	1713685	Standard	Standard	NM_002436	NM_002436		Approved	PEMP	uc004fmp.2	uc004fmp.2	Q00013	Q00013	OTTHUMG00000024244	OTTHUMG00000024244	ENST00000369534.3:c.625G>A	X.37:g.154014531C>T	ENSP00000358547:p.Gly209Ser		MPP1_ENST00000462825.1_5'UTR|MPP1_ENST00000369534.3_Missense_Mutation_p.G209S|MPP1_ENST00000393531.1_Missense_Mutation_p.G189S	p.G179S	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN			7	927	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		209	SH3.	B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.535G>A	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167022	0.57476	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000453245;ENST00000393529;ENST00000428488	T;T;D;T;T;T	0.82433	1.86;1.86;-1.61;1.86;1.86;1.86	5.1	4.23	0.50019	5.1	4.23	0.50019	Src homology-3 domain (3);Variant SH3 (1);	0.144197	0.64402	D	0.000006	T	0.77519	0.4142	L	0.56396	1.775	0.46149	D	0.99889	B;B;B;B;B	0.25521	0.034;0.001;0.128;0.004;0.006	B;B;B;B;B	0.24269	0.026;0.014;0.052;0.008;0.014	T	0.73987	-0.3809	10	0.34782	T	0.22	.	9.1221	0.36793	0.0:0.8948:0.0:0.1052	.	192;179;83;189;209	B4E325;B4DZV5;C9J9J4;G3XAI1;Q00013	.;.;.;.;EM55_HUMAN	S	209;179;189;83;163;106	ENSP00000358547:G209S;ENSP00000400155:G179S;ENSP00000377165:G189S;ENSP00000410888:G83S;ENSP00000377163:G163S;ENSP00000391701:G106S	ENSP00000358547:G209S	G	-	1	0	0	MPP1	153667725	153667725	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.215000	0.58534	2.103000	0.63969	0.513000	0.50165	GGC		0.532	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3		-6.298331	-120	-120	135	135	NM_002436		5	11.578563	11.578563	82	0.057471	0	0	0	1	0	5	82	0.057471
PSME4	23198	broad.mit.edu	37	2	54096539	54096539	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr2:54096539G>A	ENST00000404125.1	-	44	5292	c.5237C>T	c.(5236-5238)tCt>tTt	p.S1746F	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.S890F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1746					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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATCTCCTACAGAACCAGGGTC	0.398																																						ENST00000404125.1											0			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5236-5238)tCt>tTt	proteasome (prosome, macropain) activator subunit 4						236.0	224.0	228.0					2																	54096539		2203	4300	6503	SO:0001583	missense	23198			anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54096539G>A	D38521	D38521	CCDS33197.2	CCDS33197.2	2p16.1	2003-04-14			2003-04-14			ENSG00000068878	ENSG00000068878	ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	"""Proteasome (prosome, macropain) subunits"""	20635	20635	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607705	607705						7584044, 12093752	7584044, 12093752	Standard	Standard	NM_014614	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	uc002rxp.2	Q14997	Q14997	OTTHUMG00000151852	OTTHUMG00000151852	ENST00000404125.1:c.5237C>T	2.37:g.54096539G>A	ENSP00000384211:p.Ser1746Phe		PSME4_ENST00000421748.2_Missense_Mutation_p.S890F|PSME4_ENST00000476586.1_5'UTR	p.S1746F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		44	5292	-			1746		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.5237C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758877	0.49468	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.27104	1.69;1.7	5.97	1.06	0.20224	5.97	1.06	0.20224	Armadillo-like helical (1);Armadillo-type fold (1);	0.452374	0.27871	N	0.017506	T	0.23410	0.0566	L	0.54323	1.7	0.39967	D	0.974742	B;B;B;B	0.32526	0.089;0.374;0.374;0.205	B;B;B;B	0.33521	0.028;0.106;0.165;0.031	T	0.05305	-1.0893	10	0.52906	T	0.07	0.01	9.5626	0.39378	0.3708:0.0:0.6292:0.0	.	1121;890;890;1746	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	F	890;1746	ENSP00000410830:S890F;ENSP00000384211:S1746F	ENSP00000384211:S1746F	S	-	2	0	0	PSME4	53950043	53950043	1.000000	0.71417	0.417000	0.26559	0.996000	0.88848	3.583000	0.53928	-0.081000	0.12662	0.591000	0.81541	TCT		0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1		133.535041	8	8	200	200	XM_040158		48	139.109509	139.109509	111	0.301887	0	0	0	1	0	48	111	0.301887
OR2L3	391192	broad.mit.edu	37	1	248224859	248224859	+	Silent	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:248224859G>A	ENST00000359959.3	+	1	876	c.876G>A	c.(874-876)agG>agA	p.R292R	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			ATAGCCTGAGGAACAAGGAGG	0.498																																						ENST00000359959.3											0			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(874-876)agG>agA	olfactory receptor, family 2, subfamily L, member 3						59.0	60.0	59.0					1																	248224859		2203	4300	6503	SO:0001819	synonymous_variant	391192			sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224859G>A	AB065950	AB065950	CCDS31104.1	CCDS31104.1	1q44	2012-08-09			2012-08-09			ENSG00000198128	ENSG00000198128	ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	15009	15009	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001004687	NM_001004687		Approved		uc001idx.1	uc001idx.1	Q8NG85	Q8NG85	OTTHUMG00000040195	OTTHUMG00000040195	ENST00000359959.3:c.876G>A	1.37:g.248224859G>A			OR2L13_ENST00000366478.2_Intron	p.R292R	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	876	+	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)		292		B9EH44	Silent	SNP	ENST00000359959.3	37	c.876G>A	CCDS31104.1																																																																																									0.498	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		37.528827	0	0	66	66	NM_001004687		14	39.548491	39.548491	35	0.285714	0	0	0	1	0	14	35	0.285714
PPP1R18	170954	broad.mit.edu	37	6	30653733	30653733	+	Silent	SNP	G	G	T			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr6:30653733G>T	ENST00000274853.3	-	1	1939	c.63C>A	c.(61-63)tcC>tcA	p.S21S	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Silent_p.S21S|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GGCCTCGAACGGACGCCTCCT	0.672																																						ENST00000274853.3											0										c.(61-63)tcC>tcA	protein phosphatase 1, regulatory subunit 18						104.0	125.0	118.0					6																	30653733		1267	2530	3797	SO:0001819	synonymous_variant	170954				cytoplasm|cytoskeleton	actin binding	g.chr6:30653733G>T	AK097089	AK097089	CCDS43444.1	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	29413	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	610990	"""KIAA1949"""	KIAA1949	"""KIAA1949"""	KIAA1949		11853319	11853319	Standard	Standard	NM_001134870	NM_001134870		Approved	phostensin	uc003nra.3	uc003nra.3	Q6NYC8	Q6NYC8	OTTHUMG00000031237	OTTHUMG00000031237	ENST00000274853.3:c.63C>A	6.37:g.30653733G>T			PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Silent_p.S21S	p.S21S	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	1939	-			21		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	ENST00000274853.3	37	c.63C>A	CCDS43444.1																																																																																									0.672	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2		208.684235	-32	-32	146	146	NM_133471		68	208.690543	208.690543	66	0.507463	1	0	1.12115e-39	1	1.41619e-39	68	66	0.507463
NACA2	342538	broad.mit.edu	37	17	59668490	59668490	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr17:59668490G>A	ENST00000521764.1	-	1	73	c.52C>T	c.(52-54)Cag>Tag	p.Q18*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	18					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GCCTGGGACTGCGGCAACTCC	0.567																																						ENST00000521764.1											0			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(52-54)Cag>Tag	nascent polypeptide-associated complex alpha subunit 2						77.0	68.0	71.0					17																	59668490		2203	4300	6503	SO:0001587	stop_gained	342538			protein transport	cytoplasm|nucleus		g.chr17:59668490G>A	BC062710	BC062710	CCDS11630.1	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506		ENSG00000253506				23290	23290	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	"""alpha-NAC protein"""	609274	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	12406326	Standard	Standard	NM_199290	NM_199290		Approved	MGC71999	uc002izj.2	uc002izj.2	Q9H009	Q9H009			ENST00000521764.1:c.52C>T	17.37:g.59668490G>A	ENSP00000427802:p.Gln18*			p.Q18*	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	73	-	all_epithelial(1;3.12e-14)		18		Q2VIR9	Nonsense_Mutation	SNP	ENST00000521764.1	37	c.52C>T	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481108	0.84747	.	.	ENSG00000253506	ENST00000521764	.	.	.	0.753	0.753	0.18404	0.753	0.753	0.18404	.	0.101993	0.39615	U	0.001318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	X	18	.	.	Q	-	1	0	0	NACA2	57023272	57023272	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	2.777000	0.47717	0.702000	0.31825	0.411000	0.27672	CAG		0.567	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2		52.137059	1	1	65	65	NM_199290		18	52.795909	52.795909	30	0.375000	0	0	0	1	0	18	30	0.375
ADAMTSL1	92949	broad.mit.edu	37	9	18721576	18721576	+	Missense_Mutation	SNP	G	G	A	rs200488775		TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr9:18721576G>A	ENST00000380548.4	+	15	2258	c.1919G>A	c.(1918-1920)cGg>cAg	p.R640Q	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R640Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	640	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAACAGACTCGGGAGCCTGCT	0.592																																						ENST00000380548.4											0			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1918-1920)cGg>cAg	ADAMTS-like 1						93.0	92.0	92.0					9																	18721576		2203	4300	6503	SO:0001583	missense	92949				proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18721576G>A	AF176313	AF176313	CCDS6485.1, CCDS47954.1	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			2013-01-11			ENSG00000178031	ENSG00000178031	ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"""	14632	14632	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""punctin"""	"""punctin"""	609198	609198	"""chromosome 9 open reading frame 94"""	C9orf94	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	9628581, 11805097	Standard	Standard	NM_001040272	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	uc003zne.4	Q8N6G6	Q8N6G6	OTTHUMG00000019604	OTTHUMG00000019604	ENST00000380548.4:c.1919G>A	9.37:g.18721576G>A	ENSP00000369921:p.Arg640Gln		ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R640Q	p.R640Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	15	2258	+			640	TSP type-1 5.	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1919G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	4.264	0.048046	0.08243	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.62788	0.06;-0.0	5.86	4.02	0.46733	5.86	4.02	0.46733	.	0.071793	0.08080	U	1.000000	T	0.43010	0.1228	N	0.05534	-0.03	0.80722	D	1	B	0.18013	0.025	B	0.12156	0.007	T	0.09552	-1.0669	10	0.07030	T	0.85	.	15.3244	0.74147	0.128:0.0:0.872:0.0	.	640	Q8N6G6	ATL1_HUMAN	Q	640	ENSP00000369921:R640Q;ENSP00000276935:R640Q	ENSP00000276935:R640Q	R	+	2	0	0	ADAMTSL1	18711576	18711576	1.000000	0.71417	0.841000	0.33234	0.846000	0.48090	5.311000	0.65786	0.407000	0.25591	-0.813000	0.03139	CGG		0.592	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		93.079132	-6	-6	122	122			30	94.157669	94.157669	50	0.375000	0	0	0	1	0	30	50	0.375
SNAPC2	6618	broad.mit.edu	37	19	7987612	7987612	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr19:7987612T>C	ENST00000221573.6	+	5	1019	c.968T>C	c.(967-969)cTg>cCg	p.L323P	SNAPC2_ENST00000597584.1_Missense_Mutation_p.L86P	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	323					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CTGGTGCCCCTGGAGCTTCTG	0.697																																						ENST00000221573.6											0			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(967-969)cTg>cCg	small nuclear RNA activating complex, polypeptide 2, 45kDa						57.0	76.0	69.0					19																	7987612		2190	4288	6478	SO:0001583	missense	6618			snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987612T>C	U44898	U44898	CCDS12190.1	CCDS12190.1	19p13	2008-07-22	2002-08-29		2008-07-22	2002-08-29			ENSG00000104976		ENSG00000104976				11135	11135	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605076	605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""		"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	8633057	Standard	Standard	NM_003083	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	uc002miw.2	Q13487	Q13487			ENST00000221573.6:c.968T>C	19.37:g.7987612T>C	ENSP00000221573:p.Leu323Pro		SNAPC2_ENST00000597584.1_Missense_Mutation_p.L86P	p.L323P	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN			5	1019	+			323		B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.968T>C	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	t	15.57	2.874133	0.51695	.	.	ENSG00000104976	ENST00000221573	T	0.60299	0.2	4.55	4.55	0.56014	4.55	4.55	0.56014	.	0.104561	0.39083	N	0.001480	T	0.72236	0.3435	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75224	-0.3393	10	0.87932	D	0	-13.2986	10.2213	0.43198	0.0:0.0:0.0:1.0	.	323	Q13487	SNPC2_HUMAN	P	323	ENSP00000221573:L323P	ENSP00000221573:L323P	L	+	2	0	0	SNAPC2	7893612	7893612	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.797000	0.47877	1.915000	0.55452	0.370000	0.22315	CTG		0.697	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1		-9.470205	-20	-20	107	107	NM_003083		4	7.994886	7.994886	77	0.049383	0	0	0	1	0	4	77	0.049383
RYR2	6262	broad.mit.edu	37	1	237777594	237777594	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr1:237777594C>A	ENST00000366574.2	+	37	5483	c.5166C>A	c.(5164-5166)aaC>aaA	p.N1722K	RYR2_ENST00000360064.6_Missense_Mutation_p.N1720K|RYR2_ENST00000542537.1_Missense_Mutation_p.N1706K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1722	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGATGAACAACGAGTACA	0.527																																						ENST00000366574.2											0			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5164-5166)aaC>aaA	ryanodine receptor 2 (cardiac)						61.0	61.0	61.0					1																	237777594		2151	4259	6410	SO:0001583	missense	6262			cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777594C>A	X91869	X91869	CCDS55691.1	CCDS55691.1	1q43	2014-09-17			2014-09-17			ENSG00000198626	ENSG00000198626	ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	10484	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			180902	180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	2380170, 8406504, 11159936	Standard	Standard	NM_001035	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	uc001hyl.1	Q92736	Q92736	OTTHUMG00000039543	OTTHUMG00000039543	ENST00000366574.2:c.5166C>A	1.37:g.237777594C>A	ENSP00000355533:p.Asn1722Lys		RYR2_ENST00000542537.1_Missense_Mutation_p.N1706K|RYR2_ENST00000360064.6_Missense_Mutation_p.N1720K	p.N1722K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5483	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1722	4 X approximate repeats.	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5166C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	2.823	-0.244362	0.05906	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73363	-0.74;-0.74;-0.74	5.43	4.52	0.55395	5.43	4.52	0.55395	.	0.000000	0.64402	D	0.000003	T	0.48095	0.1481	N	0.12182	0.205	0.80722	D	1	B	0.31968	0.349	B	0.22152	0.038	T	0.51585	-0.8687	10	0.02654	T	1	.	10.8808	0.46937	0.0:0.8366:0.0:0.1634	.	1722	Q92736	RYR2_HUMAN	K	1722;1720;1706	ENSP00000355533:N1722K;ENSP00000353174:N1720K;ENSP00000443798:N1706K	ENSP00000353174:N1720K	N	+	3	2	2	RYR2	235844217	235844217	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	1.586000	0.36611	1.294000	0.44707	0.650000	0.86243	AAC		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		35.627336	-9	-9	31	31	NM_001035		11	35.730505	35.730505	8	0.578947	1	0	0.010729	1	0.0117044	11	8	0.578947
ZNF354C	30832	broad.mit.edu	37	5	178506834	178506834	+	Silent	SNP	G	G	A			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr5:178506834G>A	ENST00000315475.6	+	5	1707	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GAGAGAAACCGTATCAGTGTA	0.393																																						ENST00000315475.6											0			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30						c.(1399-1401)ccG>ccA	zinc finger protein 354C						72.0	79.0	77.0					5																	178506834		2203	4300	6503	SO:0001819	synonymous_variant	30832			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178506834G>A			CCDS4443.1	CCDS4443.1	5q35	2013-01-08			2013-01-08			ENSG00000177932	ENSG00000177932	ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	16736	16736	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10786630	10786630	Standard	Standard	NM_014594	NM_014594		Approved	KID3	uc003mju.3	uc003mju.3	Q86Y25	Q86Y25	OTTHUMG00000130888	OTTHUMG00000130888	ENST00000315475.6:c.1401G>A	5.37:g.178506834G>A				p.P467P	NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	5	1707	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	467		Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.1401G>A	CCDS4443.1																																																																																									0.393	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2		57.109542	-3	-3	63	63			19	58.268974	58.268974	36	0.345455	0	0	0	1	0	19	36	0.345455
MN1	4330	broad.mit.edu	37	22	28194881	28194883	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr22:28194881_28194883delGCT	ENST00000302326.4	-	1	2603_2605	c.1649_1651delAGC	c.(1648-1653)cagcgc>cgc	p.Q550del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	550	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTTTTGGCgctgctgctgctg	0.645			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4		Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1648-1653)cagcgc>cgc	meningioma (disrupted in balanced translocation) 1			88,3382		14,60,1661						3.4	1.0			5	216,6858		15,186,3336	no	coding	MN1	NM_002430.2		29,246,4997	A1A1,A1R,RR		3.0534,2.536,2.8832				304,10240				SO:0001651	inframe_deletion	4330					binding	g.chr22:28194881_28194883delGCT	X82209	X82209	CCDS42998.1	CCDS42998.1	22q12.1	2010-09-29			2010-09-29			ENSG00000169184	ENSG00000169184	ENSG00000169184	ENSG00000169184				7180	7180	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	"""probable tumor suppressor protein MN1"""	156100	156100	"""meningioma chromosome region"""	MGCR	"""meningioma chromosome region"""	MGCR		7731706, 12569362	7731706, 12569362	Standard	Standard	NM_002430	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	uc003adj.3	Q10571	Q10571	OTTHUMG00000150975	OTTHUMG00000150975	ENST00000302326.4:c.1649_1651delAGC	22.37:g.28194890_28194892delGCT	ENSP00000304956:p.Gln550del			p.Q550del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2603_2605	-			550	Poly-Gln.	A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1649_1651delAGC	CCDS42998.1																																																																																									0.645	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	.	.	2	2	4	4	NM_002430		3			3	0.50						3	3	0.5
LINC00189	193629	broad.mit.edu	37	21	30595091	30595091	+	RNA	DEL	C	C	-			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr21:30595091delC	ENST00000420364.1	+	0	767					NR_027072.2				long intergenic non-protein coding RNA 189																		TCCTGTACCACCAACTTCTTC	0.512																																						ENST00000420364.1											0																																																0						g.chr21:30595091delC	AF490769	AF490769			21q22.11	2012-10-12	2011-08-11	2011-08-11	2012-10-12	2011-08-11	2011-08-11	ENSG00000215533	ENSG00000215533	ENSG00000215533	ENSG00000215533		"""Long non-coding RNAs"""	"""Long non-coding RNAs"""	18461	18461	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding					"""chromosome 21 open reading frame 109"", ""non-protein coding RNA 189"""	C21orf109, NCRNA00189	"""chromosome 21 open reading frame 109"", ""non-protein coding RNA 189"""	C21orf109, NCRNA00189		12036298	12036298	Standard	Standard	NR_027072	NR_027072		Approved		uc002yni.3	uc002yni.3			OTTHUMG00000078876	OTTHUMG00000078876		21.37:g.30595091delC					NR_027072.2						0	767	+						RNA	DEL	ENST00000420364.1	37																																																																																											0.512	LINC00189-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000171969.1	.	.	-5	-5	6	6	NR_027072		2			4	0.33						2	4	0.33
CTBP2P3	220147	broad.mit.edu	37	18	58331400	58331400	+	lincRNA	DEL	C	C	-			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr18:58331400delC	ENST00000591869.1	-	0	228																											AGCAATTCATCCCGAGCTTAA	0.502																																						ENST00000591869.1											0																																																0						g.chr18:58331400delC																																																		18.37:g.58331400delC											0	228	-						RNA	DEL	ENST00000591869.1	37																																																																																											0.502	RP11-325K19.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449086.1	.	.	6	6	14	14			2			4	0.33						2	4	0.33
PLCB2	5330	broad.mit.edu	37	15	40594218	40594218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V4-A9E8-01A-11D-A39W-08	TCGA-V4-A9E8-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a878d471-6a96-4065-91cb-22d1fffad852	3d7200fc-9efc-460f-9491-823158221c82	g.chr15:40594218delA	ENST00000260402.3	-	7	771	c.522delT	c.(520-522)tttfs	p.F174fs	PLCB2_ENST00000456256.2_Frame_Shift_Del_p.F174fs|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000557821.1_Frame_Shift_Del_p.F174fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	174					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGTCAGCAGGAAACATCTGGA	0.582																																						ENST00000260402.3											0			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(520-522)tttfs	phospholipase C, beta 2						49.0	54.0	53.0					15																	40594218		1978	4158	6136	SO:0001589	frameshift_variant	5330			activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594218delA			CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			2012-01-23			ENSG00000137841	ENSG00000137841	ENSG00000137841	ENSG00000137841	3.1.4.11			9055	9055	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604114	604114						1644792, 9925923	1644792, 9925923	Standard	Standard	XM_005254448	XM_005254448		Approved	FLJ38135	uc001zld.3	uc001zld.3	Q00722	Q00722	OTTHUMG00000172412	OTTHUMG00000172412	ENST00000260402.3:c.522delT	15.37:g.40594218delA	ENSP00000260402:p.Phe174fs		PLCB2_ENST00000456256.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000543785.2_Frame_Shift_Del_p.F174fs|PLCB2_ENST00000557821.1_Frame_Shift_Del_p.F174fs	p.F174fs	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	7	771	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	174		A8K6J2|B9EGH5	Frame_Shift_Del	DEL	ENST00000260402.3	37	c.522delT	CCDS42020.1																																																																																									0.582	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1	.	.	-5	-5	46	46			8			7	0.53						8	7	0.53
