#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HPCAL4	51440	broad.mit.edu	37	1	40149730	40149730	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:40149730A>T	ENST00000372844.3	-	3	648	c.257T>A	c.(256-258)aTc>aAc	p.I86N		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	86	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGGGCGCAGATGAACTCCCG	0.642																																						ENST00000372844.3																			0				breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8						c.(256-258)aTc>aAc		hippocalcin like 4							55.0	53.0	54.0					1																	40149730		2203	4300	6503	SO:0001583	missense	51440				central nervous system development	intracellular	calcium ion binding	g.chr1:40149730A>T	AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.257T>A	1.37:g.40149730A>T	ENSP00000361935:p.Ile86Asn						p.I86N	NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	648	-	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	86			EF-hand 2.		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	ENST00000372844.3	37	c.257T>A	CCDS441.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262696	0.59431	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.69685	-0.42	3.51	2.36	0.29203	EF-hand-like domain (1);	0.114404	0.64402	D	0.000015	T	0.76118	0.3943	M	0.65677	2.01	0.80722	D	1	D	0.60575	0.988	D	0.66196	0.942	T	0.76971	-0.2761	10	0.87932	D	0	.	10.4965	0.44780	0.8363:0.1637:0.0:0.0	.	86	Q9UM19	HPCL4_HUMAN	N	86;78	ENSP00000361935:I86N	ENSP00000361935:I86N	I	-	2	0	HPCAL4	39922317	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	9.005000	0.93587	0.700000	0.31782	-0.648000	0.03929	ATC		0.642	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025640.1	NM_016257		9	18	0	0	0	1	0	9	18				
HLA-C	3107	broad.mit.edu	37	6	31239513	31239513	+	Missense_Mutation	SNP	C	C	T	rs41548913		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr6:31239513C>T	ENST00000376228.5	-	2	220	c.206G>A	c.(205-207)gGg>gAg	p.G69E	HLA-C_ENST00000383329.3_Missense_Mutation_p.G69E	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	69	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)	p.G69E(5)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCGCGGCTCCCCTCTCGGACT	0.697																																						ENST00000383329.3																			5	Substitution - Missense(5)	p.G69E(5)	lung(4)|prostate(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						c.(205-207)gGg>gAg		major histocompatibility complex, class I, C							39.0	41.0	40.0					6																	31239513		1510	2707	4217	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239513C>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.206G>A	6.37:g.31239513C>T	ENSP00000365402:p.Gly69Glu					HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E	p.G69E			Q9TNN7	1C05_HUMAN			2	220	-			69			Alpha-1.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.206G>A	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	-	9.175	1.022203	0.19433	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00009	9.51;9.51	2.81	-5.62	0.02481	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	4.590520	0.01464	N	0.016005	T	0.00012	0.0000	N	0.00016	-2.865	0.09310	N	1	D;P;D;B	0.89917	1.0;0.676;1.0;0.165	D;D;D;P	0.97110	1.0;0.931;1.0;0.655	T	0.64613	-0.6366	10	0.08381	T	0.77	.	0.5269	0.00621	0.2346:0.1439:0.2034:0.418	rs41548913;rs45497191	69;69;69;69	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	E	69;69;69;106	ENSP00000365402:G69E;ENSP00000372819:G69E	ENSP00000365402:G69E	G	-	2	0	HLA-C	31347492	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.769000	0.01792	-2.050000	0.00905	-3.548000	0.00031	GGG		0.697	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117		3	43	0	0	0	1	0	3	43				
TMEM200C	645369	broad.mit.edu	37	18	5891854	5891854	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr18:5891854G>A	ENST00000581347.2	-	3	854	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A70V|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	70						integral component of membrane (GO:0016021)		p.A70V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GCCCACCACCGCCATGGCTAT	0.662																																						ENST00000581347.1																			1	Substitution - Missense(1)	p.A70V(1)	lung(1)	autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						c.(208-210)gCg>gTg		transmembrane protein 200C							54.0	60.0	58.0					18																	5891854		2147	4256	6403	SO:0001583	missense	645369					integral to membrane		g.chr18:5891854G>A		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.209C>T	18.37:g.5891854G>A	ENSP00000463375:p.Ala70Val					RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A70V	p.A70V			A6NKL6	T200C_HUMAN			3	854	-			70						Missense_Mutation	SNP	ENST00000581347.2	37	c.209C>T	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513929	0.85389	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.97	4.09	0.47781	.	0.056303	0.64402	D	0.000001	T	0.78394	0.4276	M	0.75615	2.305	0.53688	D	0.999971	D	0.89917	1.0	D	0.80764	0.994	T	0.81908	-0.0717	9	0.87932	D	0	-15.2681	15.6135	0.76748	0.0:0.1382:0.8618:0.0	.	70	A6NKL6	T200C_HUMAN	V	70	.	ENSP00000372982:A70V	A	-	2	0	TMEM200C	5881854	1.000000	0.71417	0.950000	0.38849	0.904000	0.53231	9.428000	0.97476	1.204000	0.43247	-0.310000	0.09108	GCG		0.662	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		18	25	0	0	0	1	0	18	25				
PDGFD	80310	broad.mit.edu	37	11	104034551	104034551	+	Silent	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:104034551G>A	ENST00000393158.2	-	1	284	c.105C>T	c.(103-105)aaC>aaT	p.N35N	PDGFD_ENST00000302251.5_Silent_p.N35N			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	35					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TGAGGTTGGCGTTGCGCAAAG	0.423											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(103-105)aaC>aaT		platelet derived growth factor D							68.0	69.0	69.0					11																	104034551		2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:104034551G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.105C>T	11.37:g.104034551G>A			OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1378	PDGFD_ENST00000393158.2_Silent_p.N35N	p.N35N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	1	556	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	35					A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.105C>T	CCDS41703.1																																																																																				0.423	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		11	30	0	0	0	1	0	11	30				
CAV2	858	broad.mit.edu	37	7	116140406	116140406	+	Silent	SNP	A	A	G			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:116140406A>G	ENST00000222693.4	+	2	635	c.243A>G	c.(241-243)aaA>aaG	p.K81K	CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.K81K|CAV2_ENST00000343213.2_Intron|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	81					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			AAATCAGCAAATACGTAATGT	0.532																																						ENST00000222693.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(241-243)aaA>aaG		caveolin 2							186.0	152.0	164.0					7																	116140406		2203	4300	6503	SO:0001819	synonymous_variant	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116140406A>G	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.243A>G	7.37:g.116140406A>G						CAV2_ENST00000343213.2_Intron|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000393480.2_Silent_p.K81K	p.K81K	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	635	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		81					A4D0U2|Q9UGM7	Silent	SNP	ENST00000222693.4	37	c.243A>G	CCDS5766.1																																																																																				0.532	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		4	40	0	0	0	1	0	4	40				
WNT3A	89780	broad.mit.edu	37	1	228210491	228210491	+	Missense_Mutation	SNP	C	C	A	rs374327556		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:228210491C>A	ENST00000284523.1	+	2	273	c.195C>A	c.(193-195)agC>agA	p.S65R	WNT3A_ENST00000366753.2_Missense_Mutation_p.S65R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	65					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TCATGCCCAGCGTGGCCGAGG	0.652																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(193-195)agC>agA		wingless-type MMTV integration site family, member 3A							55.0	53.0	54.0					1																	228210491		2203	4300	6503	SO:0001583	missense	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210491C>A	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.195C>A	1.37:g.228210491C>A	ENSP00000284523:p.Ser65Arg					WNT3A_ENST00000366753.2_Missense_Mutation_p.S65R	p.S65R	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	273	+		Prostate(94;0.0405)	65					Q3SY79|Q3SY80|Q969P2	Missense_Mutation	SNP	ENST00000284523.1	37	c.195C>A	CCDS1564.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452720	0.63290	.	.	ENSG00000154342	ENST00000284523;ENST00000366753	T;T	0.77620	-1.11;-1.11	4.47	-2.22	0.06952	.	0.208574	0.50627	D	0.000106	D	0.86041	0.5838	M	0.88842	2.985	0.51767	D	0.999937	P;P	0.50943	0.94;0.891	D;P	0.65573	0.936;0.538	D	0.83875	0.0276	10	0.40728	T	0.16	.	11.0177	0.47698	0.0:0.5099:0.0:0.4901	.	65;65	P56704;Q3SY79	WNT3A_HUMAN;.	R	65	ENSP00000284523:S65R;ENSP00000355715:S65R	ENSP00000284523:S65R	S	+	3	2	WNT3A	226277114	0.071000	0.21146	0.991000	0.47740	0.985000	0.73830	-0.542000	0.06091	-0.421000	0.07416	-0.224000	0.12420	AGC		0.652	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		3	28	1	0	0.115264	1	0.115264	3	28				
CNTN6	27255	broad.mit.edu	37	3	1371511	1371511	+	Missense_Mutation	SNP	C	C	A	rs575054347	byFrequency	TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr3:1371511C>A	ENST00000446702.2	+	11	1883	c.1256C>A	c.(1255-1257)tCt>tAt	p.S419Y	CNTN6_ENST00000350110.2_Missense_Mutation_p.S419Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.S347Y			Q9UQ52	CNTN6_HUMAN	contactin 6	419	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAAAAAAGTCTTTTGTTCAA	0.383													C|||	6	0.00119808	0.0	0.0	5008	,	,		14223	0.0		0.0	False		,,,				2504	0.0061					ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(1255-1257)tCt>tAt		contactin 6							81.0	84.0	83.0					3																	1371511		2203	4298	6501	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1371511C>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1256C>A	3.37:g.1371511C>A	ENSP00000407822:p.Ser419Tyr					CNTN6_ENST00000350110.2_Missense_Mutation_p.S419Y|CNTN6_ENST00000539053.1_Missense_Mutation_p.S347Y	p.S419Y			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	11	1883	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	419			Ig-like C2-type 5.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1256C>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274467	0.59649	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67171	-0.25;-0.25;-0.25	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.48767	D	0.000173	T	0.65365	0.2684	N	0.05230	-0.09	0.31186	N	0.701492	D	0.89917	1.0	D	0.91635	0.999	T	0.64356	-0.6427	10	0.19147	T	0.46	.	18.0493	0.89343	0.0:1.0:0.0:0.0	.	419	Q9UQ52	CNTN6_HUMAN	Y	419;347;419	ENSP00000407822:S419Y;ENSP00000442791:S347Y;ENSP00000341882:S419Y	ENSP00000341882:S419Y	S	+	2	0	CNTN6	1346511	0.957000	0.32711	0.027000	0.17364	0.401000	0.30781	4.026000	0.57232	2.689000	0.91719	0.563000	0.77884	TCT		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		24	41	1	0	1.1804e-14	1	1.28304e-14	24	41				
TTLL5	23093	broad.mit.edu	37	14	76147908	76147908	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr14:76147908A>G	ENST00000298832.9	+	4	407	c.202A>G	c.(202-204)Aag>Gag	p.K68E	TTLL5_ENST00000556977.1_Missense_Mutation_p.K68E|TTLL5_ENST00000286650.5_Missense_Mutation_p.K68E|TTLL5_ENST00000557636.1_Missense_Mutation_p.K68E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	68	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTCTTATAAGATTGTACG	0.343																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(202-204)Aag>Gag		tubulin tyrosine ligase-like family, member 5							144.0	134.0	137.0					14																	76147908		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76147908A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.202A>G	14.37:g.76147908A>G	ENSP00000298832:p.Lys68Glu					TTLL5_ENST00000557636.1_Missense_Mutation_p.K68E|TTLL5_ENST00000556977.1_Missense_Mutation_p.K68E|TTLL5_ENST00000286650.5_Missense_Mutation_p.K68E	p.K68E	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	4	407	+			68			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.202A>G	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	A	32	5.132042	0.94473	.	.	ENSG00000119685	ENST00000557003;ENST00000556977;ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.08370	3.69;3.1;3.74	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	0.961;0.998;1.0	D;D;D	0.79784	0.919;0.989;0.993	T	0.49753	-0.8906	10	0.72032	D	0.01	.	14.7143	0.69257	1.0:0.0:0.0:0.0	.	68;68;68	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	E	68	ENSP00000450713:K68E;ENSP00000286650:K68E;ENSP00000298832:K68E	ENSP00000286650:K68E	K	+	1	0	TTLL5	75217661	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.717000	0.91425	2.125000	0.65367	0.533000	0.62120	AAG		0.343	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		5	79	0	0	0	1	0	5	79				
ALCAM	214	broad.mit.edu	37	3	105086325	105086325	+	Splice_Site	SNP	G	G	C			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr3:105086325G>C	ENST00000306107.5	+	1	573	c.73G>C	c.(73-75)Ggc>Cgc	p.G25R	ALCAM_ENST00000472644.2_Splice_Site_p.G25R	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	25					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTTCAGGCCAGGTGAGCAAGG	0.652																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.e1+1		activated leukocyte cell adhesion molecule							58.0	58.0	58.0					3																	105086325		2203	4300	6503	SO:0001630	splice_region_variant	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105086325G>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.73+1G>C	3.37:g.105086325G>C						ALCAM_ENST00000472644.2_Splice_Site_p.G25_splice	p.G25_splice	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			1	573	+			25					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Splice_Site	SNP	ENST00000306107.5	37	c.73_splice	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.674938	0.67928	.	.	ENSG00000170017	ENST00000306107;ENST00000472644	T;T	0.54866	0.55;0.91	4.75	4.75	0.60458	.	0.289862	0.36444	N	0.002597	T	0.62720	0.2451	L	0.50333	1.59	0.80722	D	1	P;P;D	0.69078	0.942;0.942;0.997	P;P;D	0.71870	0.826;0.826;0.975	T	0.56068	-0.8040	10	0.19590	T	0.45	-10.6932	13.1284	0.59368	0.0:0.0:1.0:0.0	.	25;25;25	B4DTU0;Q13740;Q6PEY4	.;CD166_HUMAN;.	R	25	ENSP00000305988:G25R;ENSP00000419236:G25R	ENSP00000305988:G25R	G	+	1	0	ALCAM	106569015	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	4.035000	0.57297	2.470000	0.83445	0.561000	0.74099	GGC		0.652	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627	Missense_Mutation	5	11	0	0	0	1	0	5	11				
MSH4	4438	broad.mit.edu	37	1	76333274	76333274	+	Splice_Site	SNP	G	G	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:76333274G>T	ENST00000263187.3	+	9	1409		c.e9+1			NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4						ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCTTTAAAGGTAATTTATGT	0.294								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.e9+1	Mismatch excision repair (MMR)	mutS homolog 4							82.0	85.0	84.0					1																	76333274		2202	4295	6497	SO:0001630	splice_region_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76333274G>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1305+1G>T	1.37:g.76333274G>T								NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			9	1409	+								Q5T4U6|Q8NEB3|Q9UNP8	Splice_Site	SNP	ENST00000263187.3	37		CCDS670.1	.	.	.	.	.	.	.	.	.	.	g	18.09	3.546358	0.65198	.	.	ENSG00000057468	ENST00000263187	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2278	0.82311	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH4	76105862	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.754000	0.68743	2.441000	0.82636	0.585000	0.79938	.		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440	Intron	8	19	1	0	1.12685e-05	1	1.1738e-05	8	19				
STAT4	6775	broad.mit.edu	37	2	191937909	191937909	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr2:191937909A>G	ENST00000392320.2	-	5	694	c.380T>C	c.(379-381)cTa>cCa	p.L127P	STAT4_ENST00000358470.4_Missense_Mutation_p.L127P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	127					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATTTCTCTAGAGGCCCCTG	0.398																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(379-381)cTa>cCa		signal transducer and activator of transcription 4							97.0	109.0	105.0					2																	191937909		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191937909A>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.380T>C	2.37:g.191937909A>G	ENSP00000376134:p.Leu127Pro					STAT4_ENST00000358470.4_Missense_Mutation_p.L127P	p.L127P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		5	694	-			127					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.380T>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.232605	0.58777	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89343	-2.5;-2.5	5.92	5.92	0.95590	.	0.163209	0.42053	D	0.000780	D	0.91439	0.7298	L	0.48642	1.525	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63488	0.915;0.915	D	0.89585	0.3823	10	0.25751	T	0.34	-1.2591	16.3655	0.83319	1.0:0.0:0.0:0.0	.	127;127	B4DV04;Q14765	.;STAT4_HUMAN	P	127	ENSP00000351255:L127P;ENSP00000376134:L127P	ENSP00000351255:L127P	L	-	2	0	STAT4	191646154	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.227000	0.89787	2.257000	0.74773	0.455000	0.32223	CTA		0.398	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		49	58	0	0	0	1	0	49	58				
MUC17	140453	broad.mit.edu	37	7	100676840	100676840	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:100676840A>T	ENST00000306151.4	+	3	2207	c.2143A>T	c.(2143-2145)Acc>Tcc	p.T715S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	715	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTGTTGACACCAGCACACC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2143-2145)Acc>Tcc		mucin 17, cell surface associated							326.0	329.0	328.0					7																	100676840		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676840A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2143A>T	7.37:g.100676840A>T	ENSP00000302716:p.Thr715Ser						p.T715S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2207	+	Lung NSC(181;0.136)|all_lung(186;0.182)		715			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2143A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	2.753	-0.259549	0.05791	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	1.22	-2.29	0.06805	.	.	.	.	.	T	0.01695	0.0054	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.49331	-0.8951	9	0.07990	T	0.79	.	2.414	0.04431	0.589:0.0:0.174:0.237	.	715	Q685J3	MUC17_HUMAN	S	715	ENSP00000302716:T715S	ENSP00000302716:T715S	T	+	1	0	MUC17	100463560	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.196000	0.17176	-0.510000	0.06523	-1.988000	0.00451	ACC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	328	0	0	0	1	0	5	328				
MED13L	23389	broad.mit.edu	37	12	116446367	116446367	+	Silent	SNP	T	T	C			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr12:116446367T>C	ENST00000281928.3	-	10	2057	c.1851A>G	c.(1849-1851)ttA>ttG	p.L617L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	617						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCCACAATATAAGGCTGTCT	0.522																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1849-1851)ttA>ttG		mediator complex subunit 13-like							60.0	53.0	56.0					12																	116446367		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446367T>C	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1851A>G	12.37:g.116446367T>C							p.L617L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	2057	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		617					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.1851A>G	CCDS9177.1																																																																																				0.522	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			18	11	0	0	0	1	0	18	11				
KRT33B	3884	broad.mit.edu	37	17	39521167	39521167	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:39521167C>T	ENST00000251646.3	-	6	1010	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	321	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGGACTCCACGTTGGTGATC	0.612																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(961-963)Gtg>Atg		keratin 33B							50.0	56.0	54.0					17																	39521167		2189	4296	6485	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521167C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.961G>A	17.37:g.39521167C>T	ENSP00000251646:p.Val321Met						p.V321M	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			6	1010	-		Breast(137;0.000496)	321			Coil 2.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.961G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	13.34	2.207599	0.39003	.	.	ENSG00000131738	ENST00000251646	D	0.89415	-2.51	4.85	4.85	0.62838	Filament (1);	0.000000	0.56097	D	0.000021	D	0.91109	0.7201	M	0.73598	2.24	0.30874	N	0.732162	D	0.61080	0.989	P	0.56751	0.805	D	0.89687	0.3895	10	0.72032	D	0.01	.	6.9464	0.24520	0.0:0.8142:0.0:0.1858	.	321	Q14525	KT33B_HUMAN	M	321	ENSP00000251646:V321M	ENSP00000251646:V321M	V	-	1	0	KRT33B	36774693	0.050000	0.20438	1.000000	0.80357	0.604000	0.37047	0.290000	0.18975	2.666000	0.90696	0.650000	0.86243	GTG		0.612	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		5	46	0	0	0	1	0	5	46				
NACA	4666	broad.mit.edu	37	12	57109973	57109973	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr12:57109973C>T	ENST00000454682.1	-	3	5622	c.5341G>A	c.(5341-5343)Gtc>Atc	p.V1781I	NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V628I|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1781	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGGAAGGACCTTCTCAAAG	0.557			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5341-5343)Gtc>Atc		nascent polypeptide-associated complex alpha subunit							52.0	48.0	49.0					12																	57109973		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109973C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5341G>A	12.37:g.57109973C>T	ENSP00000403817:p.Val1781Ile					NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V628I|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron	p.V1781I	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5622	-			0						Missense_Mutation	SNP	ENST00000454682.1	37	c.5341G>A		.	.	.	.	.	.	.	.	.	.	C	9.349	1.065076	0.20067	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.53640	0.61;0.65	3.63	0.326	0.15908	.	.	.	.	.	T	0.24736	0.0600	N	0.08118	0	0.09310	N	1	P;P	0.42827	0.791;0.764	B;B	0.41236	0.351;0.224	T	0.11542	-1.0583	9	0.62326	D	0.03	.	3.7258	0.08474	0.1875:0.5135:0.0:0.299	.	1781;628	E9PAV3;F8VU71	.;.	I	1781;628	ENSP00000403817:V1781I;ENSP00000448035:V628I	ENSP00000403817:V1781I	V	-	1	0	NACA	55396240	0.005000	0.15991	0.007000	0.13788	0.293000	0.27360	0.201000	0.17276	0.217000	0.20800	0.484000	0.47621	GTC		0.557	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		13	15	0	0	0	1	0	13	15				
KCNA2	3737	broad.mit.edu	37	1	111146236	111146236	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:111146236A>G	ENST00000485317.1	-	3	1842	c.1169T>C	c.(1168-1170)gTg>gCg	p.V390A	KCNA2_ENST00000316361.4_Missense_Mutation_p.V390A|KCNA2_ENST00000440270.1_Missense_Mutation_p.V390A|KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000525120.1_5'Flank			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	390					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TAGGGAACCCACTATCTTTCC	0.517																																					Pancreas(18;568 735 10587 23710 36357)	ENST00000485317.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1168-1170)gTg>gCg		potassium voltage-gated channel, shaker-related subfamily, member 2							84.0	85.0	84.0					1																	111146236		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146236A>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1169T>C	1.37:g.111146236A>G	ENSP00000433109:p.Val390Ala					KCNA2_ENST00000440270.1_Missense_Mutation_p.V390A|KCNA2_ENST00000316361.4_Missense_Mutation_p.V390A|KCNA2_ENST00000369770.3_Intron	p.V390A			P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	3	1842	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	390					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.1169T>C	CCDS827.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405486	0.62288	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.98585	-5.01;-5.01;-5.01	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99849	1.1069	10	0.87932	D	0	.	15.4214	0.75015	1.0:0.0:0.0:0.0	.	390	P16389	KCNA2_HUMAN	A	390	ENSP00000433109:V390A;ENSP00000415257:V390A;ENSP00000314520:V390A	ENSP00000314520:V390A	V	-	2	0	KCNA2	110947759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.277000	0.95755	2.037000	0.60232	0.533000	0.62120	GTG		0.517	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		5	59	0	0	0	1	0	5	59				
MS4A6A	64231	broad.mit.edu	37	11	59942906	59942906	+	Missense_Mutation	SNP	G	G	A	rs530964700		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:59942906G>A	ENST00000530839.1	-	6	1010	c.518C>T	c.(517-519)aCg>aTg	p.T173M	MS4A6A_ENST00000426738.2_Missense_Mutation_p.T128M|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T173M|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T201M|MS4A6A_ENST00000529906.1_5'Flank|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T201M|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000528851.1_Missense_Mutation_p.T173M	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	173						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATAGCAGTCCGTGGTATAAAG	0.368																																						ENST00000528851.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(517-519)aCg>aTg		membrane-spanning 4-domains, subfamily A, member 6A							83.0	81.0	81.0					11																	59942906		2201	4295	6496	SO:0001583	missense	64231					integral to membrane	receptor activity	g.chr11:59942906G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.518C>T	11.37:g.59942906G>A	ENSP00000436979:p.Thr173Met					MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T173M|MS4A6A_ENST00000426738.2_Missense_Mutation_p.T128M|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T201M|MS4A6A_ENST00000530839.1_Missense_Mutation_p.T173M|MS4A6A_ENST00000420732.2_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T201M	p.T173M			Q9H2W1	M4A6A_HUMAN			5	658	-			173					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.518C>T	CCDS7981.1	.	.	.	.	.	.	.	.	.	.	G	2.061	-0.415295	0.04766	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309	T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32	4.58	-9.16	0.00694	.	4.691860	0.00424	N	0.000075	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.09377	0.004;0.002;0.002;0.002	T	0.36841	-0.9731	10	0.44086	T	0.13	.	1.9402	0.03345	0.3573:0.318:0.2011:0.1236	.	128;201;201;173	E7EMT7;F8W9K1;E9PSA9;Q9H2W1	.;.;.;M4A6A_HUMAN	M	173;173;173;201;128;201	ENSP00000315878:T173M;ENSP00000431901:T173M;ENSP00000436979:T173M;ENSP00000435844:T201M;ENSP00000392770:T128M;ENSP00000403212:T201M	ENSP00000315878:T173M	T	-	2	0	MS4A6A	59699482	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.927000	0.00690	-3.224000	0.00211	-4.521000	0.00005	ACG		0.368	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1			13	11	0	0	0	1	0	13	11				
C9orf156	51531	broad.mit.edu	37	9	100678519	100678519	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr9:100678519A>C	ENST00000375119.3	-	2	254	c.178T>G	c.(178-180)Ttg>Gtg	p.L60V	Y_RNA_ENST00000364960.1_RNA|C9orf156_ENST00000478126.1_Intron	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	60	TsaA-like. {ECO:0000255|PROSITE- ProRule:PRU01003}.				viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CTAATCCTCAAACAGGCTCGA	0.408																																						ENST00000375119.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13						c.(178-180)Ttg>Gtg		chromosome 9 open reading frame 156							87.0	83.0	84.0					9																	100678519		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100678519A>C	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.178T>G	9.37:g.100678519A>C	ENSP00000364260:p.Leu60Val					C9orf156_ENST00000478126.1_Intron	p.L60V	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN			2	254	-		Acute lymphoblastic leukemia(62;0.158)	60					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.178T>G	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.216944	0.58452	.	.	ENSG00000136932	ENST00000375119;ENST00000375117;ENST00000455506	T;T;T	0.47528	0.84;0.84;0.84	5.42	-0.0818	0.13701	Uncharacterised domain UPF0066, YaeB-like domain (2);Uncharacterised domain UPF0066 (2);	0.000000	0.64402	D	0.000001	T	0.55016	0.1894	L	0.50847	1.595	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.46596	-0.9180	10	0.35671	T	0.21	-11.5804	8.8337	0.35100	0.6373:0.0:0.3627:0.0	.	60	Q9BU70	NAP1_HUMAN	V	60;59;58	ENSP00000364260:L60V;ENSP00000364258:L59V;ENSP00000408473:L58V	ENSP00000364258:L59V	L	-	1	2	C9orf156	99718340	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	1.680000	0.37607	-0.185000	0.10550	-0.254000	0.11334	TTG		0.408	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		3	46	0	0	0	1	0	3	46				
GABRE	2564	broad.mit.edu	37	X	151131069	151131069	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chrX:151131069C>T	ENST00000370328.3	-	4	442	c.389G>A	c.(388-390)cGc>cAc	p.R130H	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.R130H|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	130					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTAACAGAGGCGTTCGTCGTA	0.468																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(388-390)cGc>cAc		gamma-aminobutyric acid (GABA) A receptor, epsilon							187.0	149.0	162.0					X																	151131069		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131069C>T	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.389G>A	X.37:g.151131069C>T	ENSP00000359353:p.Arg130His					GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.R130H	p.R130H			P78334	GBRE_HUMAN			4	442	-	Acute lymphoblastic leukemia(192;6.56e-05)		130					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.389G>A	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448832	0.84101	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.82081	-1.57;-1.57	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000076	D	0.86892	0.6042	M	0.93150	3.385	0.80722	D	1	P	0.38642	0.641	B	0.33521	0.165	D	0.89679	0.3889	10	0.87932	D	0	.	15.8742	0.79148	0.0:1.0:0.0:0.0	.	130	P78334	GBRE_HUMAN	H	130	ENSP00000359353:R130H;ENSP00000359350:R130H	ENSP00000359350:R130H	R	-	2	0	GABRE	150881725	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	6.087000	0.71362	2.348000	0.79779	0.600000	0.82982	CGC		0.468	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		34	6	0	0	0	1	0	34	6				
ACOX1	51	broad.mit.edu	37	17	73953635	73953635	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:73953635C>T	ENST00000301608.4	-	4	503	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	ACOX1_ENST00000293217.5_Missense_Mutation_p.R148Q|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000537812.1_Missense_Mutation_p.R110Q	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	148					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCCAAGCCTCGAAGGTGAGT	0.448																																						ENST00000537812.1																			0				large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(328-330)cGa>cAa		acyl-CoA oxidase 1, palmitoyl							101.0	92.0	95.0					17																	73953635		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73953635C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.443G>A	17.37:g.73953635C>T	ENSP00000301608:p.Arg148Gln					ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R148Q|ACOX1_ENST00000293217.5_Missense_Mutation_p.R148Q	p.R110Q	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN			4	977	-			148					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.329G>A	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604206	0.87157	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	D;D;D	0.95001	-3.58;-3.58;-3.58	5.65	5.65	0.86999	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.060930	0.64402	D	0.000003	D	0.96580	0.8884	M	0.64404	1.975	0.80722	D	1	D;D;P;P	0.89917	1.0;1.0;0.567;0.502	D;D;B;B	0.78314	0.991;0.991;0.247;0.075	D	0.94866	0.8026	10	0.25106	T	0.35	-9.3905	19.721	0.96143	0.0:1.0:0.0:0.0	.	80;110;148;148	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	Q	148;148;110;148;80	ENSP00000301608:R148Q;ENSP00000293217:R148Q;ENSP00000441257:R110Q	ENSP00000293217:R148Q	R	-	2	0	ACOX1	71465230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.662000	0.90505	0.643000	0.83706	CGA		0.448	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			21	22	0	0	0	1	0	21	22				
ANKRD30B	374860	broad.mit.edu	37	18	14850219	14850219	+	Silent	SNP	T	T	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr18:14850219T>A	ENST00000358984.4	+	35	3225	c.3045T>A	c.(3043-3045)acT>acA	p.T1015T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1015				T -> P (in Ref. 3; AAK27326). {ECO:0000305}.						breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCAGATTGACTTTAAATCAAG	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3043-3045)acT>acA		ankyrin repeat domain 30B							21.0	18.0	19.0					18																	14850219		691	1570	2261	SO:0001819	synonymous_variant	374860							g.chr18:14850219T>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3045T>A	18.37:g.14850219T>A							p.T1015T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3225	+			1100					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3045T>A	CCDS54182.1																																																																																				0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		11	5	0	0	0	1	0	11	5				
TRIOBP	11078	broad.mit.edu	37	22	38120668	38120668	+	Missense_Mutation	SNP	A	A	G	rs202079450	byFrequency	TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr22:38120668A>G	ENST00000406386.3	+	7	2360	c.2105A>G	c.(2104-2106)cAa>cGa	p.Q702R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	702					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTGTGCCCAACGGGACGAT	0.582													G|||	10	0.00199681	0.0	0.0086	5008	,	,		20998	0.0		0.002	False		,,,				2504	0.002					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2104-2106)cAa>cGa		TRIO and F-actin binding protein		G	ARG/GLN	8,3882		0,8,1937	168.0	182.0	178.0		2105	0.0	0.0	22		178	36,8268		0,36,4116	yes	missense	TRIOBP	NM_001039141.2	43	0,44,6053	GG,GA,AA		0.4335,0.2057,0.3608	benign	702/2366	38120668	44,12150	1945	4152	6097	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120668A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2105A>G	22.37:g.38120668A>G	ENSP00000384312:p.Gln702Arg					RP1-37E16.12_ENST00000455236.1_RNA	p.Q702R	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2360	+	Melanoma(58;0.0574)		702					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2105A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730111	0.48939	0.002057	0.004335	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19806	2.12	5.08	0.0434	0.14221	.	.	.	.	.	T	0.15089	0.0364	L	0.38953	1.18	0.21802	N	0.99953	B	0.06786	0.001	B	0.08055	0.003	T	0.24190	-1.0167	9	0.45353	T	0.12	.	6.9354	0.24463	0.5128:0.3957:0.0915:0.0	.	702	Q9H2D6	TARA_HUMAN	R	702	ENSP00000384312:Q702R	ENSP00000384312:Q702R	Q	+	2	0	TRIOBP	36450614	0.004000	0.15560	0.011000	0.14972	0.002000	0.02628	0.083000	0.14871	-0.303000	0.08856	-1.451000	0.01035	CAA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			3	42	0	0	0	1	0	3	42				
UBA2	10054	broad.mit.edu	37	19	34935916	34935916	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr19:34935916G>A	ENST00000246548.4	+	8	731	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	UBA2_ENST00000439527.2_Missense_Mutation_p.E125K	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	221					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGAACCAACGGAAGCCGAAGC	0.363																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(373-375)Gaa>Aaa		ubiquitin-like modifier activating enzyme 2							90.0	89.0	90.0					19																	34935916		2203	4300	6503	SO:0001583	missense	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34935916G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.661G>A	19.37:g.34935916G>A	ENSP00000246548:p.Glu221Lys					UBA2_ENST00000246548.4_Missense_Mutation_p.E221K	p.E125K			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		8	871	+	Esophageal squamous(110;0.162)		221					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	c.373G>A	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116122	0.56505	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.60040	0.22;1.38	5.5	5.5	0.81552	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.143871	0.64402	D	0.000007	T	0.45377	0.1339	L	0.33245	0.995	0.58432	D	0.999991	B	0.09022	0.002	B	0.08055	0.003	T	0.30119	-0.9989	10	0.17369	T	0.5	-18.9536	14.1796	0.65564	0.0:0.1501:0.8499:0.0	.	221	Q9UBT2	SAE2_HUMAN	K	94;221;125	ENSP00000246548:E221K;ENSP00000437484:E125K	ENSP00000246548:E221K	E	+	1	0	UBA2	39627756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.564000	0.67359	2.736000	0.93811	0.591000	0.81541	GAA		0.363	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		16	61	0	0	0	1	0	16	61				
ACTN2	88	broad.mit.edu	37	1	236882229	236882229	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr1:236882229C>T	ENST00000366578.4	+	3	443	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	ACTN2_ENST00000542672.1_Missense_Mutation_p.R93W|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	93	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGGAAAAATGCGGTTCCACAA	0.483																																						ENST00000366578.4																			0				endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(277-279)Cgg>Tgg		actinin, alpha 2							128.0	123.0	124.0					1																	236882229		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236882229C>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.277C>T	1.37:g.236882229C>T	ENSP00000355537:p.Arg93Trp					ACTN2_ENST00000542672.1_Missense_Mutation_p.R93W|ACTN2_ENST00000492634.1_3'UTR	p.R93W	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		3	443	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	93			Actin-binding.|CH 1.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.277C>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705444	0.89018	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.87609	0.6220	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.91745	0.5407	10	0.87932	D	0	.	18.6602	0.91469	0.0:1.0:0.0:0.0	.	93;93	B2RCS5;P35609	.;ACTN2_HUMAN	W	93	ENSP00000443495:R93W;ENSP00000355537:R93W	ENSP00000355537:R93W	R	+	1	2	ACTN2	234948852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.709000	0.54853	2.775000	0.95449	0.655000	0.94253	CGG		0.483	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		3	42	0	0	0	1	0	3	42				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			3	35	0	0	0	1	0	3	35				
TRAF3IP2	10758	broad.mit.edu	37	6	111888850	111888850	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr6:111888850A>T	ENST00000340026.6	-	7	1957	c.1363T>A	c.(1363-1365)Tgg>Agg	p.W455R	TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000368735.1_5'Flank|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.W446R|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.W446R|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.W34R|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	455	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CGCTCCATCCATTTAATGATA	0.373																																						ENST00000368761.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1336-1338)Tgg>Agg		TRAF3 interacting protein 2							120.0	112.0	115.0					6																	111888850		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111888850A>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.1363T>A	6.37:g.111888850A>T	ENSP00000345984:p.Trp455Arg					TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.W446R|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.W455R|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.W34R	p.W446R	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	6	1814	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	455			SEFIR.		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.1336T>A		.	.	.	.	.	.	.	.	.	.	A	18.97	3.736542	0.69304	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000392556;ENST00000340026;ENST00000359831	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.61080	0.986;0.989	P;D	0.65323	0.891;0.934	T	0.68500	-0.5392	10	0.87932	D	0	-2.7844	15.7006	0.77538	1.0:0.0:0.0:0.0	.	446;446	O43734-2;Q7Z6Q1	.;.	R	455;446;34;455;446	ENSP00000357750:W446R;ENSP00000376339:W34R;ENSP00000345984:W455R;ENSP00000352889:W446R	ENSP00000345984:W455R	W	-	1	0	TRAF3IP2	111995543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.119000	0.64992	0.454000	0.30748	TGG		0.373	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			23	31	0	0	0	1	0	23	31				
AASS	10157	broad.mit.edu	37	7	121758446	121758446	+	Missense_Mutation	SNP	G	G	A	rs372318479		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:121758446G>A	ENST00000393376.1	-	5	697	c.602C>T	c.(601-603)gCt>gTt	p.A201V	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A201V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	201	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TTCATAGCCAGCATCACGGAC	0.423																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(601-603)gCt>gTt		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)	G	VAL/ALA	1,4405		0,1,2202	125.0	113.0	117.0		602	4.8	1.0	7		117	1,8599		0,1,4299	no	missense	AASS	NM_005763.3	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	201/927	121758446	2,13004	2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121758446G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.602C>T	7.37:g.121758446G>A	ENSP00000377040:p.Ala201Val					AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A201V	p.A201V			Q9UDR5	AASS_HUMAN			5	697	-			201			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.602C>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	.	12.80	2.046289	0.36085	2.27E-4	1.16E-4	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82344	-1.6;-1.6	4.83	4.83	0.62350	Alanine dehydrogenase/PNT, C-terminal (1);	0.146817	0.64402	D	0.000008	T	0.74876	0.3774	L	0.31526	0.94	0.44652	D	0.997635	B	0.27997	0.197	B	0.26310	0.068	T	0.70389	-0.4885	10	0.19590	T	0.45	-11.0106	18.1702	0.89743	0.0:0.0:1.0:0.0	.	201	Q9UDR5	AASS_HUMAN	V	201	ENSP00000377040:A201V;ENSP00000403768:A201V	ENSP00000351834:A201V	A	-	2	0	AASS	121545682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.185000	0.77714	2.529000	0.85273	0.650000	0.86243	GCT		0.423	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		3	61	0	0	0	1	0	3	61				
OR5L1	219437	broad.mit.edu	37	11	55579447	55579447	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr11:55579447T>C	ENST00000333973.2	+	1	594	c.505T>C	c.(505-507)Tat>Cat	p.Y169H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GATCCCCTTCTATAGATCTAA	0.453																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(505-507)Tat>Cat		olfactory receptor, family 5, subfamily L, member 1							219.0	202.0	208.0					11																	55579447		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579447T>C	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.505T>C	11.37:g.55579447T>C	ENSP00000335529:p.Tyr169His						p.Y169H	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	594	+		all_epithelial(135;0.208)	169					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.505T>C	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	14.67	2.605695	0.46527	.	.	ENSG00000186117	ENST00000333973	T	0.00076	8.76	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.291255	0.24940	N	0.034386	T	0.00241	0.0007	N	0.17474	0.49	0.09310	N	1	D	0.69078	0.997	D	0.73708	0.981	T	0.63625	-0.6595	10	0.87932	D	0	-29.0512	11.2259	0.48884	0.0:0.0:0.0:1.0	.	169	Q8NGL2	OR5L1_HUMAN	H	169	ENSP00000335529:Y169H	ENSP00000335529:Y169H	Y	+	1	0	OR5L1	55336023	0.969000	0.33509	0.001000	0.08648	0.301000	0.27625	2.995000	0.49441	1.529000	0.49120	0.352000	0.21897	TAT		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		70	73	0	0	0	1	0	70	73				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			0							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			3	29	0	0	0	1	0	3	29				
PCDHA11	56138	broad.mit.edu	37	5	140250402	140250402	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr5:140250402G>A	ENST00000398640.2	+	1	1714	c.1714G>A	c.(1714-1716)Gcg>Acg	p.A572T	PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	572					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGCAGCGCGGGAGGCGC	0.677																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1714-1716)Gcg>Acg									81.0	91.0	88.0					5																	140250402		2203	4298	6501	SO:0001583	missense	0							g.chr5:140250402G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1714G>A	5.37:g.140250402G>A	ENSP00000381636:p.Ala572Thr					PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	p.A572T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1714	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1714G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.764791	0.00651	.	.	ENSG00000249158	ENST00000398640	T	0.51817	0.69	4.06	-2.55	0.06288	Cadherin-like (1);	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.021;0.007	B;B	0.13407	0.009;0.004	T	0.18116	-1.0347	9	0.17369	T	0.5	.	2.2989	0.04157	0.2941:0.117:0.4689:0.12	.	572;572	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	572	ENSP00000381636:A572T	ENSP00000381636:A572T	A	+	1	0	PCDHA11	140230586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.772000	0.04694	-0.756000	0.04703	-1.105000	0.02106	GCG		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		11	117	0	0	0	1	0	11	117				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	60	0	0	0	1	0	4	60				
FRG1B	284802	broad.mit.edu	37	20	29628301	29628301	+	Silent	SNP	T	T	C			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr20:29628301T>C	ENST00000278882.3	+	6	683	c.303T>C	c.(301-303)agT>agC	p.S101S	FRG1B_ENST00000439954.2_Silent_p.S106S|FRG1B_ENST00000358464.4_Silent_p.S101S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGCAAAAAGTAAAACAGCAG	0.353																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)agT>agC																																						SO:0001819	synonymous_variant	0							g.chr20:29628301T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.303T>C	20.37:g.29628301T>C						FRG1B_ENST00000358464.4_Silent_p.S101S|FRG1B_ENST00000439954.2_Silent_p.S106S	p.S101S							6	683	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.303T>C																																																																																					0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	41	0	0	0	1	0	5	41				
LGI4	163175	broad.mit.edu	37	19	35616120	35616120	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr19:35616120G>C	ENST00000310123.3	-	9	2110	c.1591C>G	c.(1591-1593)Cac>Gac	p.H531D	LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	531					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGATCTCGTGATGCTGGTAG	0.642																																						ENST00000310123.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1591-1593)Cac>Gac		leucine-rich repeat LGI family, member 4							55.0	54.0	55.0					19																	35616120		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616120G>C	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1591C>G	19.37:g.35616120G>C	ENSP00000312273:p.His531Asp					LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	p.H531D	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		9	2110	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		531					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1591C>G	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182353	0.57800	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.63417	-0.04	5.15	5.15	0.70609	.	0.351548	0.26887	N	0.021997	T	0.49184	0.1542	L	0.36672	1.1	0.80722	D	1	B	0.33073	0.396	B	0.23574	0.047	T	0.55623	-0.8112	10	0.87932	D	0	.	11.9448	0.52922	0.0:0.1755:0.8245:0.0	.	531	Q8N135	LGI4_HUMAN	D	531;532	ENSP00000312273:H531D	ENSP00000312273:H531D	H	-	1	0	LGI4	40307960	0.994000	0.37717	0.981000	0.43875	0.725000	0.41563	2.661000	0.46758	2.404000	0.81709	0.484000	0.47621	CAC		0.642	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			5	39	0	0	0	1	0	5	39				
CSMD3	114788	broad.mit.edu	37	8	113331065	113331065	+	Splice_Site	SNP	C	C	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr8:113331065C>A	ENST00000297405.5	-	47	7605		c.e47+1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTGAATACCTTGACAAAC	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e47+1		CUB and Sushi multiple domains 3							86.0	79.0	81.0					8																	113331065		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113331065C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7360+1G>T	8.37:g.113331065C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			47	7605	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665366	0.88251	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1059	0.97895	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113400241	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.958000	0.70330	2.770000	0.95276	0.579000	0.79373	.		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	24	11	1	0	3.08376e-08	1	3.2806e-08	24	11				
GLDC	2731	broad.mit.edu	37	9	6554737	6554737	+	Silent	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr9:6554737G>A	ENST00000321612.6	-	19	2397	c.2247C>T	c.(2245-2247)caC>caT	p.H749H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	749					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GAAGATTTAGGTGCGAGACAT	0.557																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2245-2247)caC>caT		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						66.0	56.0	59.0					9																	6554737		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6554737G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2247C>T	9.37:g.6554737G>A							p.H749H	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	19	2397	-		Acute lymphoblastic leukemia(23;0.161)	749					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.2247C>T	CCDS34987.1																																																																																				0.557	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		6	7	0	0	0	1	0	6	7				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	46	0	0	0	1	0	4	46				
KMT2C	58508	broad.mit.edu	37	7	151932975	151932975	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr7:151932975G>A	ENST00000262189.6	-	16	2914	c.2696C>T	c.(2695-2697)gCa>gTa	p.A899V	KMT2C_ENST00000355193.2_Missense_Mutation_p.A899V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	899					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGACAGTCCTGCACCTCGAGG	0.483																																						ENST00000355193.2																			0											c.(2695-2697)gCa>gTa		lysine (K)-specific methyltransferase 2C																																				SO:0001583	missense	58508							g.chr7:151932975G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2696C>T	7.37:g.151932975G>A	ENSP00000262189:p.Ala899Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A899V	p.A899V							16	2914	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2696C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520905	0.85495	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84070	-1.8;-1.8	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000316	D	0.87099	0.6093	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.88107	0.2823	10	0.62326	D	0.03	.	17.0444	0.86498	0.0:0.0:1.0:0.0	.	899	Q8NEZ4	MLL3_HUMAN	V	899	ENSP00000262189:A899V;ENSP00000347325:A899V	ENSP00000262189:A899V	A	-	2	0	MLL3	151563908	1.000000	0.71417	0.985000	0.45067	0.978000	0.69477	9.190000	0.94934	2.530000	0.85305	0.650000	0.86243	GCA		0.483	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	68	0	0	0	1	0	6	68				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	45	0	0	0	1	0	6	45				
CHST8	64377	broad.mit.edu	37	19	34263027	34263027	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr19:34263027C>T	ENST00000262622.4	+	4	1092	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	CHST8_ENST00000434302.1_Missense_Mutation_p.R112C|CHST8_ENST00000438847.3_Missense_Mutation_p.R112C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	112					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGCGCCGTCGCCGTCTGCT	0.711																																						ENST00000262622.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27						c.(334-336)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8							11.0	15.0	14.0					19																	34263027		2193	4269	6462	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263027C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.334C>T	19.37:g.34263027C>T	ENSP00000262622:p.Arg112Cys					CHST8_ENST00000438847.2_Missense_Mutation_p.R112C|CHST8_ENST00000434302.1_Missense_Mutation_p.R112C	p.R112C	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN			4	1092	+	Esophageal squamous(110;0.162)		112					Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.334C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707506	0.68615	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.77620	-1.11;-1.11;-1.11	5.08	4.01	0.46588	.	0.000000	0.38381	N	0.001705	T	0.78310	0.4263	L	0.29908	0.895	0.47308	D	0.999388	D	0.89917	1.0	D	0.65987	0.94	T	0.78999	-0.1982	10	0.62326	D	0.03	-15.8441	9.5427	0.39262	0.3243:0.6757:0.0:0.0	.	112	Q9H2A9	CHST8_HUMAN	C	112	ENSP00000392604:R112C;ENSP00000393879:R112C;ENSP00000262622:R112C	ENSP00000262622:R112C	R	+	1	0	CHST8	38954867	0.003000	0.15002	0.999000	0.59377	0.905000	0.53344	0.041000	0.13927	2.343000	0.79666	0.478000	0.44815	CGC		0.711	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		5	19	0	0	0	1	0	5	19				
ATXN2L	11273	broad.mit.edu	37	16	28847368	28847368	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr16:28847368G>A	ENST00000336783.4	+	22	3177	c.3010G>A	c.(3010-3012)Gcg>Acg	p.A1004T	ATXN2L_ENST00000570200.1_Missense_Mutation_p.A1004T|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A1004T|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A1004T|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A1004T|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A1004T|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A1010T	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1004					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCCCAAGGCGCGGTGCCCCA	0.706																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3010-3012)Gcg>Acg		ataxin 2-like							32.0	42.0	39.0					16																	28847368		2181	4277	6458	SO:0001583	missense	11273					membrane		g.chr16:28847368G>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3010G>A	16.37:g.28847368G>A	ENSP00000338718:p.Ala1004Thr					RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A1004T|ATXN2L_ENST00000564304.1_Missense_Mutation_p.A1010T|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A1004T|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A1004T|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A1004T|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A1004T	p.A1004T	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			22	3177	+			1004					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.3010G>A	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	14.58	2.577301	0.45902	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.53423	0.66;0.62;0.63;0.65;0.65	5.95	3.95	0.45737	.	0.362810	0.25845	N	0.027937	T	0.32615	0.0835	N	0.24115	0.695	0.39667	D	0.970698	B;B;B;B;B;B	0.10296	0.002;0.002;0.003;0.003;0.002;0.003	B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.002;0.001;0.002	T	0.10245	-1.0638	10	0.44086	T	0.13	-3.8906	10.243	0.43324	0.0713:0.0:0.7926:0.1361	.	1004;1004;1004;1004;1004;1004	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;ATX2L_HUMAN;.;.;.;.	T	1004	ENSP00000341459:A1004T;ENSP00000378917:A1004T;ENSP00000338718:A1004T;ENSP00000372133:A1004T;ENSP00000315650:A1004T	ENSP00000315650:A1004T	A	+	1	0	ATXN2L	28754869	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.281000	0.65609	0.820000	0.34516	0.563000	0.77884	GCG		0.706	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		27	27	0	0	0	1	0	27	27				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs200662795		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GACAGCTGCCTTGTGTGGGAC	0.438																																						ENST00000376797.3																			0																																																			0							g.chr6:29977327T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977327T>C						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	54	0	0	0	1	0	3	54				
MLXIP	22877	broad.mit.edu	37	12	122620180	122620180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr12:122620180delG	ENST00000319080.7	+	11	2131	c.1999delG	c.(1999-2001)gggfs	p.G668fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGCTGCATGGGGGCAGCCC	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(1999-2001)ggfs		MLX interacting protein							11.0	15.0	14.0					12																	122620180		1935	4116	6051	SO:0001589	frameshift_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122620180delG	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1999delG	12.37:g.122620180delG	ENSP00000312834:p.Gly668fs					MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs	p.G668fs			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	11	2131	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	668						Frame_Shift_Del	DEL	ENST00000319080.7	37	c.1999delG																																																																																					0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		2	4						2	4	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1577185	1577216	+	Splice_Site	DEL	ACCTACACCAGACCAGGTACACTGCTGAGGCC	ACCTACACCAGACCAGGTACACTGCTGAGGCC	-	rs370736475		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC	ENST00000572621.1	-	21	3565_3566	c.3300_3301delGGCCTCAGCAGTGTACCTGGTCTGGTGTAGGT	c.(3298-3303)agggcc>agcc	p.RA1100fs	PRPF8_ENST00000304992.6_Splice_Site_p.RA1100fs			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1100	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTGCTGTGAACCTACACCAGACCAGGTACACTGCTGAGGCCCCAGTACACT	0.53																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.e21-1		pre-mRNA processing factor 8																																				SO:0001630	splice_region_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3300-1GGCCTCAGCAGTGTACCTGGTCTGGTGTAGGT>-	17.37:g.1577185_1577216delACCTACACCAGACCAGGTACACTGCTGAGGCC						PRPF8_ENST00000304992.6_Splice_Site_p.S1100_splice	p.S1100_splice			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3565_3566	-			1100					O14547|O75965	Splice_Site	DEL	ENST00000572621.1	37	c.3299_splice	CCDS11010.1																																																																																				0.530	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		Frame_Shift_Del	8	56						8	56	---	---	---	---
LOC100131347	100131347	broad.mit.edu	37	17	37213525	37213526	+	RNA	INS	-	-	TTTTG	rs202177896|rs59291335		TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chr17:37213525_37213526insTTTTG	ENST00000583447.1	+	0	141					NR_036551.1																						CTGAAGGACTCttttttttttt	0.55																																						ENST00000583447.1																			0																																																			0							g.chr17:37213525_37213526insTTTTG																													17.37:g.37213525_37213526insTTTTG								NR_036551.1						0	141	+									RNA	INS	ENST00000583447.1	37																																																																																						0.550	CTD-2206N4.4-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444106.1			2	4						2	4	---	---	---	---
HDAC6	10013	broad.mit.edu	37	X	48673084	48673084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A9WL-01A-11D-A41K-08	TCGA-YL-A9WL-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc2626e6-65db-4905-97c5-46d61ea9e208	9b13b9bb-48e7-4bb4-81d0-3ce62ee0e536	g.chrX:48673084delG	ENST00000334136.5	+	12	1114	c.936delG	c.(934-936)gtgfs	p.V312fs	HDAC6_ENST00000444343.2_Frame_Shift_Del_p.V326fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.V312fs|HDAC6_ENST00000413163.2_Frame_Shift_Del_p.V257fs			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	312	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTCTGCAGGTGGGGATGCGGG	0.642																																					Pancreas(112;205 1675 2305 8976 15959)	ENST00000334136.5																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(934-936)gtfs		histone deacetylase 6	Vorinostat(DB02546)						64.0	55.0	58.0					X																	48673084		2203	4300	6503	SO:0001589	frameshift_variant	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48673084delG	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.936delG	X.37:g.48673084delG	ENSP00000334061:p.Val312fs					HDAC6_ENST00000413163.2_Frame_Shift_Del_p.V257fs|HDAC6_ENST00000376619.2_Frame_Shift_Del_p.V312fs|HDAC6_ENST00000444343.2_Frame_Shift_Del_p.V326fs	p.V312fs			Q9UBN7	HDAC6_HUMAN			12	1114	+			312			Histone deacetylase 1.		O94975|Q6NT75|Q7L3E5|Q96CY0	Frame_Shift_Del	DEL	ENST00000334136.5	37	c.936delG	CCDS14306.1																																																																																				0.642	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044		2	4						2	4	---	---	---	---
