#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
TLN2	83660	broad.mit.edu	37	15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr15:63008557G>A	ENST00000561311.1	+	22	2892	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N	TLN2_ENST00000306829.6_Missense_Mutation_p.D888N			Q9Y4G6	TLN2_HUMAN	talin 2	888	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGAATGAGGACCAGCAGCA	0.483																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(2662-2664)Gac>Aac		talin 2							46.0	48.0	47.0					15																	63008557		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63008557G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2662G>A	15.37:g.63008557G>A	ENSP00000453508:p.Asp888Asn					TLN2_ENST00000306829.6_Missense_Mutation_p.D888N	p.D888N			Q9Y4G6	TLN2_HUMAN			22	2892	+			888			Ala-rich.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.2662G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267905	0.80469	.	.	ENSG00000171914	ENST00000306829	T	0.66815	-0.23	5.65	5.65	0.86999	.	0.042437	0.85682	D	0.000000	T	0.60327	0.2260	L	0.38838	1.175	0.80722	D	1	P	0.38020	0.615	B	0.38264	0.269	T	0.55263	-0.8168	10	0.21014	T	0.42	-18.7917	19.6904	0.95998	0.0:0.0:1.0:0.0	.	888	Q9Y4G6	TLN2_HUMAN	N	888	ENSP00000303476:D888N	ENSP00000303476:D888N	D	+	1	0	TLN2	60795849	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.775000	0.98995	2.822000	0.97130	0.650000	0.86243	GAC		0.483	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	77	0	0	0	1	0	3	77				
GUSBP11	91316	broad.mit.edu	37	22	23981105	23981105	+	RNA	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:23981105A>C	ENST00000455485.1	-	0	3384				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GAACAGAATGACCGACGGGGT	0.562																																						ENST00000390329.2																			0																																																			0							g.chr22:23981105A>C			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23981105A>C						AP000347.4_ENST00000430707.2_RNA								0	23	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.562	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			3	40	0	0	0	1	0	3	40				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	6	0	0	0	1	0	4	6				
YAE1D1	57002	broad.mit.edu	37	7	39610133	39610133	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:39610133G>A	ENST00000223273.2	+	2	201	c.158G>A	c.(157-159)gGc>gAc	p.G53D	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000432096.2_Missense_Mutation_p.G53D|YAE1D1_ENST00000448268.1_Missense_Mutation_p.G53D	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	53																	ATAGATGCTGGCAAAGCAGTT	0.368																																						ENST00000432096.2																			0											c.(157-159)gGc>gAc		Yae1 domain containing 1							128.0	130.0	129.0					7																	39610133		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39610133G>A	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.158G>A	7.37:g.39610133G>A	ENSP00000223273:p.Gly53Asp					YAE1D1_ENST00000223273.2_Missense_Mutation_p.G53D|YAE1D1_ENST00000448268.1_Missense_Mutation_p.G53D|YAE1D1_ENST00000469737.1_3'UTR	p.G53D			Q9NRH1	CG036_HUMAN			2	171	+			53					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.158G>A	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753565	0.89753	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	T;T;T	0.74209	-0.82;-0.82;-0.82	6.02	6.02	0.97574	Essential protein Yae1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88955	0.6578	M	0.88181	2.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.89856	0.4013	10	0.72032	D	0.01	-13.4727	18.7178	0.91682	0.0:0.0:1.0:0.0	.	53	Q9NRH1	CG036_HUMAN	D	53	ENSP00000223273:G53D;ENSP00000400511:G53D;ENSP00000395777:G53D	ENSP00000223273:G53D	G	+	2	0	C7orf36	39576658	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.094000	0.64523	2.857000	0.98124	0.650000	0.86243	GGC		0.368	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		3	82	0	0	0	1	0	3	82				
RFX6	222546	broad.mit.edu	37	6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:117245849C>T	ENST00000332958.2	+	15	1589	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388																																						ENST00000332958.2																			1	Substitution - Nonsense(1)	p.R525*(1)	large_intestine(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(1573-1575)Cga>Tga		regulatory factor X, 6							134.0	128.0	130.0					6																	117245849		2203	4300	6503	SO:0001587	stop_gained	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117245849C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1573C>T	6.37:g.117245849C>T	ENSP00000332208:p.Arg525*						p.R525*	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN			15	1589	+			525					Q5T6B3	Nonsense_Mutation	SNP	ENST00000332958.2	37	c.1573C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	37	6.000857	0.97189	.	.	ENSG00000185002	ENST00000332958	.	.	.	5.32	4.43	0.53597	.	0.127580	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.989	13.7263	0.62761	0.0:0.9256:0.0:0.0743	.	.	.	.	X	525	.	ENSP00000332208:R525X	R	+	1	2	RFX6	117352542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.030000	0.41108	2.646000	0.89796	0.655000	0.94253	CGA		0.388	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		20	93	0	0	0	1	0	20	93				
SUN2	25777	broad.mit.edu	37	22	39134911	39134911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:39134911C>T	ENST00000405510.1	-	16	2104	c.1746G>A	c.(1744-1746)tgG>tgA	p.W582*	RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	582	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTGGTACCACAGGGGGA	0.637																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(1744-1746)tgG>tgA		Sad1 and UNC84 domain containing 2							76.0	74.0	75.0					22																	39134911		2202	4300	6502	SO:0001587	stop_gained	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39134911C>T	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1746G>A	22.37:g.39134911C>T	ENSP00000385740:p.Trp582*					SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*	p.W582*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			16	2104	-			582			SUN.		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Nonsense_Mutation	SNP	ENST00000405510.1	37	c.1746G>A	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	C	41	8.857457	0.98980	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000455125	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2867	19.3569	0.94418	0.0:1.0:0.0:0.0	.	.	.	.	X	582;582;603;582;571;55	.	ENSP00000216064:W582X	W	-	3	0	SUN2	37464857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.796000	0.85898	2.582000	0.87167	0.462000	0.41574	TGG		0.637	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		10	56	0	0	0	1	0	10	56				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	62	0	0	0	1	0	5	62				
VILL	50853	broad.mit.edu	37	3	38047326	38047326	+	Missense_Mutation	SNP	C	C	T	rs372162890		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:38047326C>T	ENST00000283713.6	+	17	2260	c.1994C>T	c.(1993-1995)gCg>gTg	p.A665V	VILL_ENST00000383759.2_Missense_Mutation_p.A665V|VILL_ENST00000465644.1_Missense_Mutation_p.A383V			O15195	VILL_HUMAN	villin-like	665					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAAGGAGGCGGTGGCCTGG	0.657																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1993-1995)gCg>gTg		villin-like		C	VAL/ALA	0,4406		0,0,2203	69.0	76.0	73.0		1994	4.4	0.6	3		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	VILL	NM_015873.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	665/857	38047326	1,13005	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38047326C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1994C>T	3.37:g.38047326C>T	ENSP00000283713:p.Ala665Val					VILL_ENST00000465644.1_Missense_Mutation_p.A383V|VILL_ENST00000383759.2_Missense_Mutation_p.A665V	p.A665V			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	17	2260	+			665					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.1994C>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805840	0.70682	0.0	1.16E-4	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.34667	1.35;1.35;1.35	4.43	4.43	0.53597	Gelsolin domain (1);	0.784903	0.12187	N	0.491543	T	0.62196	0.2408	M	0.78456	2.415	0.46317	D	0.99898	D	0.69078	0.997	D	0.66084	0.941	T	0.64685	-0.6349	10	0.62326	D	0.03	-13.5272	17.0212	0.86434	0.0:1.0:0.0:0.0	.	665	O15195	VILL_HUMAN	V	665;665;651;383	ENSP00000283713:A665V;ENSP00000373266:A665V;ENSP00000422096:A383V	ENSP00000283713:A665V	A	+	2	0	VILL	38022330	1.000000	0.71417	0.576000	0.28549	0.256000	0.26092	4.835000	0.62781	2.183000	0.69458	0.462000	0.41574	GCG		0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		18	157	0	0	0	1	0	18	157				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	21	0	0	0	1	0	3	21				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	54	0	0	0	1	0	3	54				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	159	0	0	0	1	0	4	159				
PTPRC	5788	broad.mit.edu	37	1	198665988	198665988	+	Missense_Mutation	SNP	C	C	T	rs375051221		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr1:198665988C>T	ENST00000367376.2	+	4	413	c.242C>T	c.(241-243)aCc>aTc	p.T81I	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.T83I|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T81I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	81					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATACTTCCACCCAAGTATCC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20021	0.001		0.0	False		,,,				2504	0.0					ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(241-243)aCc>aTc		protein tyrosine phosphatase, receptor type, C							142.0	140.0	141.0					1																	198665988		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198665988C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.242C>T	1.37:g.198665988C>T	ENSP00000356346:p.Thr81Ile					PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T81I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T83I	p.T81I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			4	413	+			81					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.242C>T		.	.	.	.	.	.	.	.	.	.	C	13.28	2.190036	0.38707	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000535566;ENST00000271610;ENST00000442510;ENST00000418674	T;T	0.02974	4.25;4.09	5.56	-1.59	0.08453	.	1.498500	0.04330	N	0.352249	T	0.03871	0.0109	L	0.51422	1.61	0.09310	N	1	P;P;P	0.44816	0.844;0.483;0.483	B;B;B	0.39217	0.294;0.113;0.113	T	0.49031	-0.8981	10	0.37606	T	0.19	.	8.723	0.34452	0.0:0.3457:0.498:0.1563	.	122;81;81	Q6Q1P2;E9PC28;P08575	.;.;PTPRC_HUMAN	I	83;81;81;122;81;81	ENSP00000193532:T81I;ENSP00000411355:T81I	ENSP00000271610:T122I	T	+	2	0	PTPRC	196932611	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.083000	0.03397	0.005000	0.14708	0.655000	0.94253	ACC		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				16	145	0	0	0	1	0	16	145				
CDK5RAP1	51654	broad.mit.edu	37	20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:31961946G>A	ENST00000357886.4	-	10	1375	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000477105.1_5'UTR			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	408					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCAACACACGGCTGCTTCCA	0.502																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(1222-1224)Cgt>Tgt		CDK5 regulatory subunit associated protein 1							132.0	131.0	131.0					20																	31961946		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31961946G>A	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1222C>T	20.37:g.31961946G>A	ENSP00000350558:p.Arg408Cys					CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C	p.R408C			Q96SZ6	CK5P1_HUMAN			10	1375	-			408					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.1222C>T		.	.	.	.	.	.	.	.	.	.	G	22.3	4.272403	0.80580	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.97	4.97	0.65823	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Radical SAM (1);	0.293913	0.39985	N	0.001208	T	0.53899	0.1825	M	0.91510	3.215	0.53688	D	0.999977	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;0.998	P;D;D;D;P;P	0.65443	0.731;0.935;0.935;0.935;0.894;0.827	T	0.61197	-0.7111	10	0.87932	D	0	-10.6536	9.2882	0.37771	0.0:0.1559:0.6825:0.1616	.	317;408;394;394;394;304	Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;CK5P1_HUMAN;.;.;.;.	C	394;408;317;304;394	ENSP00000217372:R394C;ENSP00000350558:R408C;ENSP00000341840:R317C;ENSP00000408133:R304C;ENSP00000439034:R394C	ENSP00000341840:R317C	R	-	1	0	CDK5RAP1	31425607	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	2.202000	0.42743	2.820000	0.97059	0.655000	0.94253	CGT		0.502	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		61	372	0	0	0	1	0	61	372				
ABCA2	20	broad.mit.edu	37	9	139912649	139912649	+	Silent	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr9:139912649G>A	ENST00000371605.3	-	13	2118	c.1971C>T	c.(1969-1971)taC>taT	p.Y657Y	ABCA2_ENST00000341511.6_Silent_p.Y658Y|ABCA2_ENST00000265662.5_Silent_p.Y658Y|ABCA2_ENST00000492260.1_5'Flank			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	657					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACGAAGCCGTAGAGGAAGT	0.642																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(1972-1974)taC>taT		ATP-binding cassette, sub-family A (ABC1), member 2							44.0	47.0	46.0					9																	139912649		1901	4113	6014	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912649G>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.1971C>T	9.37:g.139912649G>A						ABCA2_ENST00000371605.3_Silent_p.Y657Y|ABCA2_ENST00000341511.6_Silent_p.Y658Y	p.Y658Y			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	14	2121	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	657					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.1974C>T																																																																																					0.642	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	49	0	0	0	1	0	3	49				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	83	0	0	0	1	0	8	83				
DNASE1L1	1774	broad.mit.edu	37	X	153631329	153631329	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chrX:153631329G>A	ENST00000393638.1	-	7	1014	c.728C>T	c.(727-729)gCg>gTg	p.A243V	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.A243V|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	243					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGGCAGCCGCAGTGTGCAG	0.657																																						ENST00000369809.1																			0				lung(6)	6						c.(727-729)gCg>gTg		deoxyribonuclease I-like 1							42.0	39.0	40.0					X																	153631329		2203	4298	6501	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631329G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.728C>T	X.37:g.153631329G>A	ENSP00000377255:p.Ala243Val					DNASE1L1_ENST00000393638.1_Missense_Mutation_p.A243V	p.A243V	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN			9	1357	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		243					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.728C>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199029	0.58126	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.3	3.3	0.37823	Endonuclease/exonuclease/phosphatase (2);	0.057503	0.64402	D	0.000002	T	0.38480	0.1042	M	0.78285	2.405	0.09310	N	1	D	0.53462	0.96	P	0.47134	0.539	T	0.35500	-0.9786	10	0.62326	D	0.03	-13.2073	9.2198	0.37370	0.0:0.0:1.0:0.0	.	243	P49184	DNSL1_HUMAN	V	243	ENSP00000358824:A243V;ENSP00000377255:A243V;ENSP00000014935:A243V;ENSP00000358823:A243V;ENSP00000358822:A243V;ENSP00000309168:A243V	ENSP00000014935:A243V	A	-	2	0	DNASE1L1	153284523	0.498000	0.26075	0.007000	0.13788	0.003000	0.03518	3.019000	0.49635	1.912000	0.55364	0.597000	0.82753	GCG		0.657	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			3	77	0	0	0	1	0	3	77				
PPP1R3B	79660	broad.mit.edu	37	8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:8998648A>C	ENST00000310455.3	-	2	664	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	172	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTCTGTGTAGCTCTTCCAG	0.493																																						ENST00000310455.3																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12						c.(514-516)Tac>Gac		protein phosphatase 1, regulatory subunit 3B							240.0	204.0	216.0					8																	8998648		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998648A>C	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.514T>G	8.37:g.8998648A>C	ENSP00000308318:p.Tyr172Asp					PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	664	-			172			CBM21.		B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.514T>G	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572553	0.45798	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.63744	-0.06;-0.06	5.77	4.58	0.56647	Putative phosphatase regulatory subunit (2);	0.151614	0.64402	D	0.000011	T	0.66799	0.2826	M	0.84683	2.71	0.43947	D	0.996611	B	0.25955	0.138	B	0.29440	0.102	T	0.66019	-0.6027	10	0.52906	T	0.07	-27.0283	12.1632	0.54115	0.8568:0.1432:0.0:0.0	.	172	Q86XI6	PPR3B_HUMAN	D	172	ENSP00000308318:Y172D;ENSP00000428642:Y172D	ENSP00000308318:Y172D	Y	-	1	0	PPP1R3B	9036058	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.540000	0.53611	0.975000	0.38392	0.459000	0.35465	TAC		0.493	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		20	156	0	0	0	1	0	20	156				
STAC2	342667	broad.mit.edu	37	17	37369385	37369385	+	Splice_Site	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:37369385C>A	ENST00000333461.5	-	10	1363	c.994G>T	c.(994-996)Ggc>Tgc	p.G332C		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	332	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTTGCCCTGGGGATGA	0.612																																						ENST00000333461.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.e10-1		SH3 and cysteine rich domain 2							48.0	52.0	50.0					17																	37369385		2203	4300	6503	SO:0001630	splice_region_variant	342667				intracellular signal transduction		metal ion binding	g.chr17:37369385C>A	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.994-1G>T	17.37:g.37369385C>A							p.G332_splice	NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN			10	1363	-			332			SH3.		Q32MA3	Splice_Site	SNP	ENST00000333461.5	37	c.993_splice	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	18.79	3.699009	0.68501	.	.	ENSG00000141750	ENST00000333461	T	0.64803	-0.12	5.15	5.15	0.70609	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.82195	0.4984	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85691	0.1307	10	0.87932	D	0	-1.0322	17.3884	0.87423	0.0:1.0:0.0:0.0	.	332	Q6ZMT1	STAC2_HUMAN	C	332	ENSP00000327509:G332C	ENSP00000327509:G332C	G	-	1	0	STAC2	34622911	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	6.776000	0.75023	2.405000	0.81733	0.462000	0.41574	GGC		0.612	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993	Missense_Mutation	5	167	1	0	0.184627	1	0.190058	5	167				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			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.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	80	0	0	0	1	0	4	80				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	59	0	0	0	1	0	4	59				
KCNU1	157855	broad.mit.edu	37	8	36641948	36641948	+	Missense_Mutation	SNP	G	G	A	rs369264156		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:36641948G>A	ENST00000399881.3	+	1	57	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	7					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTAAGCTACGAAATGAAACT	0.453																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(19-21)cGa>cAa		potassium channel, subfamily U, member 1		G	GLN/ARG	0,3900		0,0,1950	119.0	111.0	114.0		20	-7.5	0.0	8		114	1,8293		0,1,4146	no	missense	KCNU1	NM_001031836.2	43	0,1,6096	AA,AG,GG		0.0121,0.0,0.0082	benign	7/1150	36641948	1,12193	1950	4147	6097	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36641948G>A	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.20G>A	8.37:g.36641948G>A	ENSP00000382770:p.Arg7Gln						p.R7Q	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	1	57	+			7						Missense_Mutation	SNP	ENST00000399881.3	37	c.20G>A	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062388	0.36373	0.0	1.21E-4	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.31510	1.53;1.49	5.49	-7.5	0.01351	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29792	-1.0000	9	0.13470	T	0.59	.	4.0115	0.09624	0.3144:0.1168:0.4432:0.1256	.	7	A8MYU2	KCNU1_HUMAN	Q	7	ENSP00000429951:R7Q;ENSP00000382770:R7Q	ENSP00000382770:R7Q	R	+	2	0	KCNU1	36761106	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.459000	0.06728	-1.245000	0.02513	-1.301000	0.01330	CGA		0.453	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		6	43	0	0	0	1	0	6	43				
SERHL2	253190	broad.mit.edu	37	22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:42967138C>A	ENST00000327678.5	+	10	762	c.660C>A	c.(658-660)agC>agA	p.S220R	RNU6-513P_ENST00000516104.1_RNA|SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGAGAACAGCATTGACTTCA	0.537																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(658-660)agC>agA		serine hydrolase-like 2							140.0	108.0	119.0					22																	42967138		2203	4300	6503	SO:0001583	missense	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42967138C>A		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.660C>A	22.37:g.42967138C>A	ENSP00000331376:p.Ser220Arg					SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R	p.S220R	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN			10	762	+			220					Q5JZ95|Q9UH21	Missense_Mutation	SNP	ENST00000327678.5	37	c.660C>A	CCDS14037.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.17|11.17	1.558715|1.558715	0.27827|0.27827	.|.	.|.	ENSG00000183569|ENSG00000183569	ENST00000340239|ENST00000327678;ENST00000356720;ENST00000407614;ENST00000335879	T|T;T;T	0.20598|0.15256	2.06|2.44;2.44;2.44	2.74|2.74	1.71|1.71	0.24356|0.24356	.|.	.|0.352686	.|0.28889	.|N	.|0.013801	T|T	0.27832|0.27832	0.0685|0.0685	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.60575	.|0.988;0.894;0.973	.|P;P;P	.|0.59357	.|0.856;0.755;0.697	T|T	0.05716|0.05716	-1.0868|-1.0868	7|10	0.05351|0.37606	T|T	0.99|0.19	.|.	8.6298|8.6298	0.33913|0.33913	0.0:0.8689:0.0:0.1311|0.0:0.8689:0.0:0.1311	.|.	.|237;156;220	.|B4DHQ4;Q9H4I8-2;Q9H4I8	.|.;.;SEHL2_HUMAN	E|R	182|220;40;40;156	ENSP00000342425:A182E|ENSP00000331376:S220R;ENSP00000385691:S40R;ENSP00000336578:S156R	ENSP00000342425:A182E|ENSP00000331376:S220R	A|S	+|+	2|3	0|2	SERHL2|SERHL2	41297082|41297082	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.157000|-0.157000	0.10085|0.10085	0.231000|0.231000	0.21079|0.21079	-1.626000|-1.626000	0.00786|0.00786	GCA|AGC		0.537	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	102	1	0	1	1	1	3	102				
SCN4A	6329	broad.mit.edu	37	17	62041134	62041134	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:62041134G>A	ENST00000435607.1	-	10	1580	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y	SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	502					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTTGCCATGGGCTGGGTCC	0.637																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(1504-1506)Cat>Tat		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						31.0	32.0	32.0					17																	62041134		2088	4215	6303	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62041134G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.1504C>T	17.37:g.62041134G>A	ENSP00000396320:p.His502Tyr					SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			10	1580	-			502					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.1504C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438171	0.25900	.	.	ENSG00000007314	ENST00000435607	D	0.96104	-3.91	4.51	3.5	0.40072	.	0.888008	0.09836	N	0.749552	D	0.89497	0.6732	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.21360	0.034	T	0.82108	-0.0620	10	0.72032	D	0.01	.	10.7292	0.46087	0.0:0.0:0.6576:0.3424	.	502	P35499	SCN4A_HUMAN	Y	502	ENSP00000396320:H502Y	ENSP00000396320:H502Y	H	-	1	0	SCN4A	59394866	0.012000	0.17670	0.142000	0.22268	0.962000	0.63368	1.576000	0.36504	1.066000	0.40716	0.655000	0.94253	CAT		0.637	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	22	0	0	0	1	0	7	22				
ATP6V0A2	23545	broad.mit.edu	37	12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A	rs201325140		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:124236942G>A	ENST00000330342.3	+	17	2416	c.2168G>A	c.(2167-2169)tGt>tAt	p.C723Y	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	723					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GAAATGGCGTGTGAAGAGGTA	0.343																																						ENST00000330342.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2167-2169)tGt>tAt		ATPase, H+ transporting, lysosomal V0 subunit a2							106.0	107.0	107.0					12																	124236942		2203	4300	6503	SO:0001583	missense	23545				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding	g.chr12:124236942G>A	AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2168G>A	12.37:g.124236942G>A	ENSP00000332247:p.Cys723Tyr						p.C723Y	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)	17	2416	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		723					A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	c.2168G>A	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	1.943	-0.443222	0.04604	.	.	ENSG00000185344	ENST00000330342;ENST00000534943	D;D	0.85702	-2.02;-2.02	5.76	3.61	0.41365	.	0.803186	0.12001	N	0.508850	T	0.78071	0.4226	L	0.34521	1.04	0.09310	N	1	B	0.20459	0.045	B	0.14578	0.011	T	0.69529	-0.5121	10	0.66056	D	0.02	-9.1968	10.248	0.43352	0.2275:0.0:0.7725:0.0	.	723	Q9Y487	VPP2_HUMAN	Y	723;3	ENSP00000332247:C723Y;ENSP00000443726:C3Y	ENSP00000332247:C723Y	C	+	2	0	ATP6V0A2	122802895	0.001000	0.12720	0.452000	0.26994	0.482000	0.33219	0.211000	0.17474	1.431000	0.47355	0.655000	0.94253	TGT		0.343	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463		3	87	0	0	0	1	0	3	87				
DNAJB8	165721	broad.mit.edu	37	3	128181921	128181921	+	Silent	SNP	C	C	G			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:128181921C>G	ENST00000469083.1	-	2	2725	c.168G>C	c.(166-168)ctG>ctC	p.L56L	DNAJB8_ENST00000319153.3_Silent_p.L56L|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	56	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGGAGTCAGACAGAACCTCAT	0.612																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(166-168)ctG>ctC		DnaJ (Hsp40) homolog, subfamily B, member 8							159.0	156.0	157.0					3																	128181921		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181921C>G		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.168G>C	3.37:g.128181921C>G						DNAJB8_ENST00000319153.3_Silent_p.L56L	p.L56L			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	2725	-			56			J.		B3KWV7	Silent	SNP	ENST00000469083.1	37	c.168G>C	CCDS3048.1																																																																																				0.612	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		23	218	0	0	0	1	0	23	218				
PPP1R3A	5506	broad.mit.edu	37	7	113558852	113558852	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:113558852G>A	ENST00000284601.3	-	1	268	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	67					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGGAATCAGCAAATGAAAC	0.423																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(199-201)gCt>gTt		protein phosphatase 1, regulatory subunit 3A							88.0	81.0	83.0					7																	113558852		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558852G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.200C>T	7.37:g.113558852G>A	ENSP00000284601:p.Ala67Val						p.A67V	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	268	-			67					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.200C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736987	0.89482	.	.	ENSG00000154415	ENST00000284601	T	0.47177	0.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72629	-0.4235	10	0.72032	D	0.01	-0.0927	20.8794	0.99867	0.0:0.0:1.0:0.0	.	67	Q16821	PPR3A_HUMAN	V	67	ENSP00000284601:A67V	ENSP00000284601:A67V	A	-	2	0	PPP1R3A	113346088	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	GCT		0.423	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		3	98	0	0	0	1	0	3	98				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	21	0	0	0	1	0	3	21				
TCTA	6988	broad.mit.edu	37	3	49449979	49449981	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:49449979_49449981delGCT	ENST00000273590.3	+	1	341_343	c.120_122delGCT	c.(118-123)aagctg>aag	p.L44del	RHOA_ENST00000454011.2_5'Flank|RHOA_ENST00000422781.1_5'Flank|RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000418115.1_5'Flank	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	44						integral component of membrane (GO:0016021)				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTCTTCAAGCTGCTGCTGCTG	0.645																																						ENST00000273590.3																			0				large_intestine(4)|lung(1)	5						c.(118-123)aag>aa		T-cell leukemia translocation altered																																				SO:0001651	inframe_deletion	6988					integral to membrane		g.chr3:49449979_49449981delGCT		CCDS2796.1	3p21	2012-02-27	2012-02-27		ENSG00000145022	ENSG00000145022			11692	protein-coding gene	gene with protein product		600690	"""T-cell leukemia translocation altered gene"""			7728759	Standard	NM_022171		Approved		uc003cwv.4	P57738	OTTHUMG00000156846	ENST00000273590.3:c.120_122delGCT	3.37:g.49449988_49449990delGCT	ENSP00000273590:p.Leu44del					TCTA_ENST00000493381.1_3'UTR|RHOA_ENST00000265538.3_5'UTR	p.KL40del	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	341_343	+			40					B2R4I4|Q6I9U4|Q9BSB0	In_Frame_Del	DEL	ENST00000273590.3	37	c.120_122delGCT	CCDS2796.1																																																																																				0.645	TCTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346210.1	NM_022171		8	457						8	457	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	6						4	6	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		7	305						7	305	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			6	13						6	13	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62299581	62299581	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:62299581delC	ENST00000378024.4	-	5	2582	c.2308delG	c.(2308-2310)gatfs	p.D770fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	770					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCCACTTCTGGG	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2308-2310)atfs		AHNAK nucleoprotein							153.0	158.0	156.0					11																	62299581		2202	4299	6501	SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299581delC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2308delG	11.37:g.62299581delC	ENSP00000367263:p.Asp770fs					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.D770fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2582	-		Melanoma(852;0.155)	770					A1A586	Frame_Shift_Del	DEL	ENST00000378024.4	37	c.2308delG	CCDS31584.1																																																																																				0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		46	333						46	333	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:50025258delC	ENST00000380281.1	+	2	157	c.93delC	c.(91-93)atcfs	p.I31fs	PRPF40B_ENST00000261897.1_Frame_Shift_Del_p.I25fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	31	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACCAGCTATCCCCCCCATGC	0.607																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(73-75)atfs		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							84.0	87.0	86.0					12																	50025258		2203	4300	6503	SO:0001589	frameshift_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025258delC	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.93delC	12.37:g.50025258delC	ENSP00000369634:p.Ile31fs					PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs	p.I25fs			Q6NWY9	PR40B_HUMAN			2	626	+			31			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Frame_Shift_Del	DEL	ENST00000380281.1	37	c.75delC																																																																																					0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		7	390						7	390	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		8	180						8	180	---	---	---	---
IGHV7-81	28378	broad.mit.edu	37	14	107283267	107283269	+	RNA	DEL	TGT	TGT	-			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr14:107283267_107283269delTGT	ENST00000390639.2	-	0	11_13									immunoglobulin heavy variable 7-81 (non-functional)																		CAAGGAGGGATGTTGTTGTTGGG	0.493																																						ENST00000390639.2																			0																	0,3640		0,0,1820						-1.8	0.0			86	1,7865		0,1,3932	no	intergenic				0,1,5752	A1A1,A1R,RR		0.0127,0.0,0.0087				1,11505						0							g.chr14:107283267_107283269delTGT	Z27509		14q32.33	2012-02-08	2008-09-09		ENSG00000211979	ENSG00000211979		"""Immunoglobulins / IGH locus"""	5669	other	immunoglobulin gene			"""immunoglobulin heavy variable 7-81"""				Standard	NG_001019		Approved				OTTHUMG00000151731		14.37:g.107283273_107283275delTGT														0	11_13	-									RNA	DEL	ENST00000390639.2	37																																																																																						0.493	IGHV7-81-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323700.2	NG_001019		11	90						11	90	---	---	---	---
LRRC37BP1	147172	broad.mit.edu	37	17	28960996	28960997	+	RNA	INS	-	-	TC	rs535345037|rs200505543|rs199547031	byFrequency	TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:28960996_28960997insTC	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		tttttctttttttttttttttt	0.302																																						ENST00000417404.1																			0																																																			0							g.chr17:28960996_28960997insTC	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960996_28960997insTC						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1269	+									RNA	INS	ENST00000417404.1	37																																																																																						0.302	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		3	6						3	6	---	---	---	---
