#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
PGRMC1	10857	broad.mit.edu	37	X	118370561	118370561	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:118370561C>T	ENST00000217971.7	+	1	346	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PGRMC1_ENST00000535419.1_Missense_Mutation_p.R79W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	79	Cytochrome b5 heme-binding.				axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	CGCCGAGCTGCGGCGCTTCGA	0.711																																						ENST00000217971.7																			0				lung(6)	6						c.(235-237)Cgg>Tgg		progesterone receptor membrane component 1							9.0	10.0	10.0					X																	118370561		2163	4231	6394	SO:0001583	missense	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118370561C>T		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.235C>T	X.37:g.118370561C>T	ENSP00000217971:p.Arg79Trp					PGRMC1_ENST00000535419.1_Missense_Mutation_p.R79W	p.R79W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN			1	346	+			79			Cytochrome b5 heme-binding.		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	ENST00000217971.7	37	c.235C>T	CCDS14576.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.406653	0.83230	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	D;D	0.81579	-1.51;-1.51	5.04	4.14	0.48551	Cytochrome b5 (3);	0.156799	0.49916	D	0.000128	D	0.89371	0.6696	M	0.86343	2.81	0.51012	D	0.999903	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.978	D	0.88955	0.3389	10	0.52906	T	0.07	-6.2763	10.6275	0.45516	0.3566:0.6434:0.0:0.0	.	79;79	B7Z1L3;O00264	.;PGRC1_HUMAN	W	79	ENSP00000217971:R79W;ENSP00000442821:R79W	ENSP00000217971:R79W	R	+	1	2	PGRMC1	118254589	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	2.114000	0.41911	0.848000	0.35191	0.523000	0.50628	CGG		0.711	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		10	20	0	0	0	1	0	10	20				
MUC4	4585	broad.mit.edu	37	3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195505849G>A	ENST00000463781.3	-	2	13061	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4201V	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)			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)		ACCTGTGGATGCTGAGGAAGT	0.592																																						ENST00000463781.3																			0				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.(12601-12603)gCa>gTa		mucin 4, cell surface associated							18.0	14.0	15.0					3																	195505849		690	1575	2265	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.chr3:195505849G>A	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.12602C>T	3.37:g.195505849G>A	ENSP00000417498:p.Ala4201Val					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4201V|MUC4_ENST00000349607.4_Intron	p.A4201V	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	13061	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	964					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.12602C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	2.680	-0.275604	0.05679	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.46063	0.88;0.97	.	.	.	.	.	.	.	.	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.18263	0.021	T	0.18871	-1.0323	7	.	.	.	.	4.6311	0.12502	0.442:0.0:0.558:0.0	.	4073	E7ESK3	.	V	4201	ENSP00000417498:A4201V;ENSP00000420243:A4201V	.	A	-	2	0	MUC4	196990628	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.859000	0.04277	-1.727000	0.01368	-1.973000	0.00462	GCA		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	5	0	0	0	1	0	5	5				
PSD3	23362	broad.mit.edu	37	8	18725224	18725224	+	Missense_Mutation	SNP	T	T	C	rs62636654	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:18725224T>C	ENST00000327040.8	-	4	1696	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	PSD3_ENST00000523619.1_Missense_Mutation_p.I467V|PSD3_ENST00000440756.2_Missense_Mutation_p.I532V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	532					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCGTGTAGATGGAGTCGCTG	0.507																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1594-1596)Atc>Gtc		pleckstrin and Sec7 domain containing 3							106.0	103.0	104.0					8																	18725224		2063	4206	6269	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725224T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1594A>G	8.37:g.18725224T>C	ENSP00000324127:p.Ile532Val					PSD3_ENST00000523619.1_Missense_Mutation_p.I467V|PSD3_ENST00000327040.8_Missense_Mutation_p.I532V	p.I532V			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1696	-			532					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1594A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	2.378	-0.342659	0.05243	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.09255	3.0;3.0;3.0	5.48	-2.93	0.05598	.	0.730448	0.12559	N	0.458372	T	0.03959	0.0111	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45906	-0.9229	10	0.13470	T	0.59	.	7.2004	0.25877	0.0:0.4531:0.1353:0.4116	.	532	E9KL50	.	V	532;532;467	ENSP00000324127:I532V;ENSP00000401704:I532V;ENSP00000430640:I467V	ENSP00000324127:I532V	I	-	1	0	PSD3	18769504	0.024000	0.19004	0.006000	0.13384	0.562000	0.35680	-0.466000	0.06672	-0.329000	0.08527	0.528000	0.53228	ATC		0.507	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		71	103	0	0	0	1	0	71	103				
ARSE	415	broad.mit.edu	37	X	2867631	2867631	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:2867631G>A	ENST00000381134.3	-	6	634	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	ARSE_ENST00000540563.1_Missense_Mutation_p.R145C|ARSE_ENST00000545496.1_Missense_Mutation_p.R215C	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	190					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTTGACACGCTTCTCTGAG	0.527																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(643-645)Cgt>Tgt		arylsulfatase E (chondrodysplasia punctata 1)							123.0	104.0	110.0					X																	2867631		2203	4300	6503	SO:0001583	missense	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2867631G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.568C>T	X.37:g.2867631G>A	ENSP00000370526:p.Arg190Cys					ARSE_ENST00000540563.1_Missense_Mutation_p.R145C|ARSE_ENST00000381134.3_Missense_Mutation_p.R190C	p.R215C			P51690	ARSE_HUMAN			7	934	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	190					Q53FT2|Q53FU8	Missense_Mutation	SNP	ENST00000381134.3	37	c.643C>T	CCDS14122.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.614487	0.28712	.	.	ENSG00000157399	ENST00000540563;ENST00000545496;ENST00000381134	D;D;D	0.93811	-3.29;-3.29;-3.29	3.56	2.68	0.31781	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.305729	0.26851	U	0.022177	D	0.94427	0.8207	M	0.78801	2.425	0.09310	N	1	D;D;P	0.67145	0.996;0.996;0.727	P;P;B	0.61800	0.894;0.894;0.233	D	0.86755	0.1963	10	0.36615	T	0.2	.	5.1009	0.14759	0.2124:0.1705:0.6172:0.0	.	145;215;190	F5H324;F5GYY5;P51690	.;.;ARSE_HUMAN	C	145;215;190	ENSP00000438198:R145C;ENSP00000441417:R215C;ENSP00000370526:R190C	ENSP00000370526:R190C	R	-	1	0	ARSE	2877631	0.011000	0.17503	0.435000	0.26784	0.040000	0.13550	1.293000	0.33353	0.377000	0.24735	0.597000	0.82753	CGT		0.527	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		7	70	0	0	0	1	0	7	70				
TTK	7272	broad.mit.edu	37	6	80746270	80746270	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr6:80746270C>A	ENST00000369798.2	+	17	2114	c.2003C>A	c.(2002-2004)gCa>gAa	p.A668E	TTK_ENST00000509894.1_Missense_Mutation_p.A667E|TTK_ENST00000230510.3_Missense_Mutation_p.A667E	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	668	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGGGATTGCAAACCAAATG	0.338																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(1999-2001)gCa>gAa		TTK protein kinase							144.0	137.0	139.0					6																	80746270		2202	4298	6500	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80746270C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2003C>A	6.37:g.80746270C>A	ENSP00000358813:p.Ala668Glu					TTK_ENST00000230510.3_Missense_Mutation_p.A667E|TTK_ENST00000369798.2_Missense_Mutation_p.A668E	p.A667E			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	17	2829	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	668			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.2000C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144611	0.94603	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.76186	-1.0;-1.0;-1.0	6.08	6.08	0.98989	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045021	0.85682	D	0.000000	D	0.89602	0.6762	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.90951	0.4805	10	0.87932	D	0	-27.2094	19.6603	0.95864	0.0:1.0:0.0:0.0	.	668;667	P33981;A8K8U5	TTK_HUMAN;.	E	667;667;668	ENSP00000422936:A667E;ENSP00000230510:A667E;ENSP00000358813:A668E	ENSP00000230510:A667E	A	+	2	0	TTK	80802989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GCA		0.338	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	186	1	0	0.00198382	1	0.0021438	7	186				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000330386.6_Silent_p.Q2646Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	5	0	0	0	1	0	4	5				
KCNU1	157855	broad.mit.edu	37	8	36671795	36671795	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:36671795A>G	ENST00000399881.3	+	8	840	c.803A>G	c.(802-804)tAc>tGc	p.Y268C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	268					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)		GAGTCAATTTACCTGGTCATG	0.433																																						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.(802-804)tAc>tGc		potassium channel, subfamily U, member 1							71.0	68.0	69.0					8																	36671795		1874	4091	5965	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36671795A>G	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.803A>G	8.37:g.36671795A>G	ENSP00000382770:p.Tyr268Cys						p.Y268C	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	8	840	+			268						Missense_Mutation	SNP	ENST00000399881.3	37	c.803A>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885718	0.51908	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.98968	-5.28;-5.28	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.34959	U	0.003555	D	0.99077	0.9683	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99690	1.1001	10	0.87932	D	0	-3.4403	14.3553	0.66733	1.0:0.0:0.0:0.0	.	268	A8MYU2	KCNU1_HUMAN	C	268	ENSP00000429951:Y268C;ENSP00000382770:Y268C	ENSP00000382770:Y268C	Y	+	2	0	KCNU1	36790953	1.000000	0.71417	0.947000	0.38551	0.043000	0.13939	8.706000	0.91362	2.031000	0.59945	0.383000	0.25322	TAC		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		8	61	0	0	0	1	0	8	61				
PIP5K1C	23396	broad.mit.edu	37	19	3661952	3661952	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:3661952G>T	ENST00000335312.3	-	4	355	c.267C>A	c.(265-267)taC>taA	p.Y89*	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Y89*	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	89	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.Y89*(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCACGGTGTAGCCGATGC	0.682																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			1	Substitution - Nonsense(1)	p.Y89*(1)	prostate(1)	large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(265-267)taC>taA		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							82.0	52.0	62.0					19																	3661952		2200	4300	6500	SO:0001587	stop_gained	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3661952G>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.267C>A	19.37:g.3661952G>T	ENSP00000335333:p.Tyr89*					PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Y89*	p.Y89*	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	4	355	-		Hepatocellular(1079;0.137)	89			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Nonsense_Mutation	SNP	ENST00000335312.3	37	c.267C>A	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	G	37	5.998121	0.97184	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	.	.	.	4.76	4.76	0.60689	.	0.061955	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-27.2564	12.6126	0.56560	0.0839:0.0:0.9161:0.0	.	.	.	.	X	89	.	ENSP00000335333:Y89X	Y	-	3	2	PIP5K1C	3612952	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.044000	0.57361	2.348000	0.79779	0.655000	0.94253	TAC		0.682	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		4	20	1	0	1	1	1	4	20				
OR4D10	390197	broad.mit.edu	37	11	59245574	59245574	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:59245574A>T	ENST00000530162.1	+	1	729	c.672A>T	c.(670-672)ttA>ttT	p.L224F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTATCATTACCCAAGTCTC	0.478																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(670-672)ttA>ttT		olfactory receptor, family 4, subfamily D, member 10							90.0	86.0	87.0					11																	59245574		2201	4295	6496	SO:0001583	missense	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245574A>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.672A>T	11.37:g.59245574A>T	ENSP00000436424:p.Leu224Phe						p.L224F	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	729	+			224					B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	c.672A>T	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	A	2.146	-0.395670	0.04899	.	.	ENSG00000254466	ENST00000530162	T	0.00188	8.59	4.7	-5.32	0.02722	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	M	0.78916	2.43	0.09310	N	1	B	0.26041	0.14	B	0.35073	0.195	T	0.07233	-1.0783	9	0.56958	D	0.05	.	7.3863	0.26884	0.1287:0.1031:0.6661:0.1021	.	224	Q8NGI6	OR4DA_HUMAN	F	224	ENSP00000436424:L224F	ENSP00000436424:L224F	L	+	3	2	OR4D10	59002150	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.431000	0.01023	-1.463000	0.01904	-0.297000	0.09499	TTA		0.478	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		5	160	0	0	0	1	0	5	160				
CWF19L2	143884	broad.mit.edu	37	11	107224323	107224323	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:107224323T>C	ENST00000282251.5	-	13	2039	c.2012A>G	c.(2011-2013)cAa>cGa	p.Q671R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q671R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	671							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTTTCCATTTGTGCAGCAAG	0.393																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2011-2013)cAa>cGa		CWF19-like 2, cell cycle control (S. pombe)							122.0	115.0	117.0					11																	107224323		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107224323T>C	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2012A>G	11.37:g.107224323T>C	ENSP00000282251:p.Gln671Arg					CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q671R	p.Q671R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	13	2039	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	671					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2012A>G	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	T	1.343	-0.593547	0.03771	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.16897	2.97;2.31	5.85	2.23	0.28157	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.492108	0.23803	N	0.044412	T	0.07234	0.0183	N	0.16307	0.4	0.09310	N	0.999996	B	0.09022	0.002	B	0.11329	0.006	T	0.34329	-0.9833	10	0.15499	T	0.54	-4.7477	1.2444	0.01970	0.1364:0.2318:0.1419:0.4899	.	671	Q2TBE0	C19L2_HUMAN	R	671	ENSP00000282251:Q671R;ENSP00000387533:Q671R	ENSP00000282251:Q671R	Q	-	2	0	CWF19L2	106729533	0.999000	0.42202	0.984000	0.44739	0.767000	0.43475	1.322000	0.33689	0.124000	0.18369	0.533000	0.62120	CAA		0.393	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		50	75	0	0	0	1	0	50	75				
SI	6476	broad.mit.edu	37	3	164776970	164776970	+	Missense_Mutation	SNP	A	A	G	rs148511215		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:164776970A>G	ENST00000264382.3	-	11	1326	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	422	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATGATGACATATTTCTGTCCA	0.323										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1264-1266)Tat>Cat		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						119.0	113.0	115.0					3																	164776970		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164776970A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1264T>C	3.37:g.164776970A>G	ENSP00000264382:p.Tyr422His	HNSCC(35;0.089)					p.Y422H	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			11	1326	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	422			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1264T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129207	0.77549	.	.	ENSG00000090402	ENST00000264382	D	0.92965	-3.14	5.71	5.71	0.89125	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	H	0.97732	4.065	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.99097	1.0842	10	0.87932	D	0	.	15.9855	0.80147	1.0:0.0:0.0:0.0	.	422	P14410	SUIS_HUMAN	H	422	ENSP00000264382:Y422H	ENSP00000264382:Y422H	Y	-	1	0	SI	166259664	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.857000	0.92250	2.179000	0.69175	0.528000	0.53228	TAT		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		13	94	0	0	0	1	0	13	94				
KLHL9	55958	broad.mit.edu	37	9	21333865	21333865	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:21333865G>A	ENST00000359039.4	-	1	1514	c.994C>T	c.(994-996)Cca>Tca	p.P332S	KLHL9_ENST00000537938.1_Missense_Mutation_p.P264S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	332					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATCCATTGGGGCTAAAGAT	0.418																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(994-996)Cca>Tca		kelch-like family member 9							163.0	154.0	157.0					9																	21333865		2203	4300	6503	SO:0001583	missense	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21333865G>A	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.994C>T	9.37:g.21333865G>A	ENSP00000351933:p.Pro332Ser					KLHL9_ENST00000537938.1_Missense_Mutation_p.P264S	p.P332S			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	1514	-			332					Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	c.994C>T	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244760	0.22796	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.65732	-0.17;-0.17	5.13	4.16	0.48862	Galactose oxidase, beta-propeller (1);	0.063139	0.64402	U	0.000005	T	0.52821	0.1758	L	0.41236	1.265	0.80722	D	1	B	0.29188	0.236	B	0.31442	0.13	T	0.51903	-0.8646	10	0.33940	T	0.23	.	13.1257	0.59354	0.0:0.1621:0.8379:0.0	.	332	Q9P2J3	KLHL9_HUMAN	S	332;264	ENSP00000351933:P332S;ENSP00000437733:P264S	ENSP00000351933:P332S	P	-	1	0	KLHL9	21323865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.582000	0.74049	2.572000	0.86782	0.650000	0.86243	CCA		0.418	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		84	133	0	0	0	1	0	84	133				
KNDC1	85442	broad.mit.edu	37	10	135038195	135038195	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:135038195C>T	ENST00000304613.3	+	30	5072	c.5051C>T	c.(5050-5052)gCg>gTg	p.A1684V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1686V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1684	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGTGCACGCGTTCCAGGAG	0.597																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(5050-5052)gCg>gTg		kinase non-catalytic C-lobe domain (KIND) containing 1							89.0	71.0	77.0					10																	135038195		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135038195C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.5051C>T	10.37:g.135038195C>T	ENSP00000304437:p.Ala1684Val					KNDC1_ENST00000368572.2_Missense_Mutation_p.A1686V	p.A1684V			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	30	5072	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1684			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.5051C>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823358	0.90873	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.28454	1.61;1.61	4.42	4.42	0.53409	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.43152	1.355	0.80722	D	1	P	0.48407	0.91	B	0.41571	0.36	T	0.03673	-1.1014	10	0.21014	T	0.42	-29.516	14.8796	0.70522	0.0:1.0:0.0:0.0	.	1684	Q76NI1	VKIND_HUMAN	V	1684;1686	ENSP00000304437:A1684V;ENSP00000357561:A1686V	ENSP00000304437:A1684V	A	+	2	0	KNDC1	134888185	1.000000	0.71417	0.906000	0.35671	0.837000	0.47467	5.634000	0.67833	2.171000	0.68590	0.655000	0.94253	GCG		0.597	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		23	51	0	0	0	1	0	23	51				
KSR2	283455	broad.mit.edu	37	12	118016978	118016978	+	Missense_Mutation	SNP	G	G	A	rs552480492		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:118016978G>A	ENST00000339824.5	-	7	1998	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	KSR2_ENST00000302438.5_Missense_Mutation_p.T121M|KSR2_ENST00000425217.1_Missense_Mutation_p.T395M|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	424					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGTGCACGTCTGAGACAT	0.468																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1183-1185)aCg>aTg		kinase suppressor of ras 2							81.0	77.0	78.0					12																	118016978		1947	4149	6096	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118016978G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1271C>T	12.37:g.118016978G>A	ENSP00000339952:p.Thr424Met					KSR2_ENST00000302438.5_Missense_Mutation_p.T121M|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.T424M	p.T395M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			7	1238	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		424					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1184C>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.965431	0.74131	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.55413	0.52;0.52;0.52	4.58	4.58	0.56647	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.41824	1.3	0.80722	D	1	P	0.48764	0.915	P	0.45276	0.475	T	0.55673	-0.8104	10	0.54805	T	0.06	.	16.5124	0.84289	0.0:0.0:1.0:0.0	.	424	Q6VAB6	KSR2_HUMAN	M	395;424;121;96	ENSP00000389715:T395M;ENSP00000339952:T424M;ENSP00000305466:T121M	ENSP00000305466:T121M	T	-	2	0	KSR2	116501361	1.000000	0.71417	0.957000	0.39632	0.947000	0.59692	8.849000	0.92178	2.259000	0.74868	0.385000	0.25706	ACG		0.468	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	41	0	0	0	1	0	7	41				
MS4A6E	245802	broad.mit.edu	37	11	60105367	60105367	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:60105367G>T	ENST00000300182.4	+	2	366	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	101						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403																																						ENST00000300182.4																			0				endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						c.(301-303)Gat>Tat		membrane-spanning 4-domains, subfamily A, member 6E							115.0	112.0	113.0					11																	60105367		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60105367G>T	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.301G>T	11.37:g.60105367G>T	ENSP00000300182:p.Asp101Tyr						p.D101Y	NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN			2	366	+			101					Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.301G>T	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-4.499203	0.00000	.	.	ENSG00000166926	ENST00000300182	T	0.02345	4.33	1.32	-2.64	0.06114	.	0.733773	0.12529	N	0.460985	T	0.01189	0.0039	N	0.04090	-0.28	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.41034	-0.9531	10	0.02654	T	1	.	7.6549	0.28369	0.0:0.0:0.6554:0.3446	.	101	Q96DS6	M4A6E_HUMAN	Y	101	ENSP00000300182:D101Y	ENSP00000300182:D101Y	D	+	1	0	MS4A6E	59861943	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.131000	0.01311	-3.507000	0.00150	-3.342000	0.00043	GAT		0.403	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1			13	185	1	0	1	1	1	13	185				
AHNAK	79026	broad.mit.edu	37	11	62299210	62299210	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:62299210C>T	ENST00000378024.4	-	5	2953	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	893					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)				CTTCTGGGCCCTCTGCTTTGA	0.517																																						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.(2677-2679)gaG>gaA		AHNAK nucleoprotein							208.0	218.0	215.0					11																	62299210		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299210C>T	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.2679G>A	11.37:g.62299210C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.E893E	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2953	-		Melanoma(852;0.155)	893					A1A586	Silent	SNP	ENST00000378024.4	37	c.2679G>A	CCDS31584.1																																																																																				0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		256	310	0	0	0	1	0	256	310				
NAIP	4671	broad.mit.edu	37	5	70308387	70308387	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr5:70308387C>T	ENST00000517649.1	-	4	646	c.356G>A	c.(355-357)aGg>aAg	p.R119K	NAIP_ENST00000194097.4_Missense_Mutation_p.R119K|NAIP_ENST00000508426.2_Missense_Mutation_p.R119K|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	119					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGATGAAACCTCTTGTGGTC	0.473																																						ENST00000517649.1																			0				central_nervous_system(1)	1						c.(355-357)aGg>aAg		NLR family, apoptosis inhibitory protein							142.0	124.0	130.0					5																	70308387		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308387C>T	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.356G>A	5.37:g.70308387C>T	ENSP00000428657:p.Arg119Lys					NAIP_ENST00000508426.2_Missense_Mutation_p.R119K|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.R119K	p.R119K	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	646	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	119					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.356G>A	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	c	0.004	-2.367315	0.00212	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.70282	-0.47;-0.47;-0.47	3.26	-4.25	0.03766	Baculoviral inhibition of apoptosis protein repeat (5);	1.158280	0.07117	N	0.843312	T	0.36771	0.0979	N	0.03115	-0.41	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.001	T	0.38735	-0.9647	10	0.02654	T	1	.	5.7019	0.17887	0.0:0.3575:0.1413:0.5013	.	119;119	E7EQW0;Q13075	.;BIRC1_HUMAN	K	119	ENSP00000428657:R119K;ENSP00000443944:R119K;ENSP00000429545:R119K	ENSP00000443944:R119K	R	-	2	0	NAIP	70344143	0.001000	0.12720	0.001000	0.08648	0.093000	0.18481	-0.133000	0.10451	-0.790000	0.04492	-1.884000	0.00543	AGG		0.473	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	NM_004536		63	97	0	0	0	1	0	63	97				
FSTL5	56884	broad.mit.edu	37	4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:162577528C>T	ENST00000306100.5	-	7	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	282	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353																																						ENST00000306100.5																			1	Substitution - Nonsense(1)	p.W282*(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(844-846)tgG>tgA		follistatin-like 5							63.0	63.0	63.0					4																	162577528		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162577528C>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.846G>A	4.37:g.162577528C>T	ENSP00000305334:p.Trp282*					FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*	p.W282*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	7	1282	-	all_hematologic(180;0.24)		282			Ig-like 1.		E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.846G>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	41	8.774941	0.98950	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.38	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4143	0.60959	0.0:0.9241:0.0:0.0759	.	.	.	.	X	282;281;281;281	.	ENSP00000305334:W282X	W	-	3	0	FSTL5	162796978	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.421000	0.80204	1.396000	0.46663	0.650000	0.86243	TGG		0.353	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		18	97	0	0	0	1	0	18	97				
KLK4	9622	broad.mit.edu	37	19	51411835	51411835	+	Splice_Site	SNP	C	C	T	rs267605602		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	KLK4_ENST00000431178.2_Splice_Site_p.G110R|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		G -> D (in dbSNP:rs34626614).		amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637																																						ENST00000324041.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19						c.e3+1		kallikrein-related peptidase 4							92.0	76.0	81.0					19																	51411835		2203	4300	6503	SO:0001630	splice_region_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51411835C>T	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.475+1G>A	19.37:g.51411835C>T						KLK4_ENST00000431178.2_Splice_Site_p.G110_splice	p.G159_splice	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	3	474	-		all_neural(266;0.026)	159		G -> D (in dbSNP:rs34626614).	Peptidase S1.		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Splice_Site	SNP	ENST00000324041.1	37	c.475_splice	CCDS12809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.33|10.33	1.319411|1.319411	0.23994|0.23994	.|.	.|.	ENSG00000167749|ENSG00000167749	ENST00000431178|ENST00000324041	D|D	0.93763|0.88354	-3.28|-2.37	3.43|3.43	1.25|1.25	0.21368|0.21368	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000|0.000000	0.39083|0.39083	N|N	0.001469|0.001469	T|T	0.75627|0.75627	0.3875|0.3875	L|L	0.28504|0.28504	0.86|0.86	0.18873|0.18873	N|N	0.999988|0.999988	.|P;P	.|0.48589	.|0.912;0.875	.|B;B	.|0.36567	.|0.228;0.107	T|T	0.67929|0.67929	-0.5543|-0.5543	7|9	.|.	.|.	.|.	.|.	4.7095|4.7095	0.12865|0.12865	0.0:0.6502:0.225:0.1248|0.0:0.6502:0.225:0.1248	.|.	.|110;159	.|Q96JD7;Q9Y5K2	.|.;KLK4_HUMAN	R|S	110|159	ENSP00000399448:G110R|ENSP00000326159:G159S	.|.	G|G	-|-	1|1	0|0	KLK4|KLK4	56103647|56103647	0.062000|0.062000	0.20869|0.20869	0.202000|0.202000	0.23494|0.23494	0.005000|0.005000	0.04900|0.04900	0.795000|0.795000	0.26972|0.26972	0.439000|0.439000	0.26476|0.26476	-0.305000|-0.305000	0.09177|0.09177	GGG|GGC		0.637	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	Missense_Mutation	8	75	0	0	0	1	0	8	75				
NEB	4703	broad.mit.edu	37	2	152521900	152521900	+	Missense_Mutation	SNP	T	T	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:152521900T>A	ENST00000172853.10	-	42	5332	c.5185A>T	c.(5185-5187)Atg>Ttg	p.M1729L	NEB_ENST00000409198.1_Missense_Mutation_p.M1729L|NEB_ENST00000604864.1_Missense_Mutation_p.M1729L|NEB_ENST00000427231.2_Missense_Mutation_p.M1729L|NEB_ENST00000397345.3_Missense_Mutation_p.M1729L|NEB_ENST00000603639.1_Missense_Mutation_p.M1729L			P20929	NEBU_HUMAN	nebulin	1729					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGTCCATGGCGTAAGTG	0.507																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(5185-5187)Atg>Ttg		nebulin							263.0	257.0	259.0					2																	152521900		2069	4201	6270	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152521900T>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5185A>T	2.37:g.152521900T>A	ENSP00000172853:p.Met1729Leu					NEB_ENST00000603639.1_Missense_Mutation_p.M1729L|NEB_ENST00000397345.3_Missense_Mutation_p.M1729L|NEB_ENST00000604864.1_Missense_Mutation_p.M1729L|NEB_ENST00000409198.1_Missense_Mutation_p.M1729L|NEB_ENST00000172853.10_Missense_Mutation_p.M1729L	p.M1729L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	42	5387	-			1729					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.5185A>T		.	.	.	.	.	.	.	.	.	.	T	14.72	2.618527	0.46736	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.05382	3.45;3.47;3.47;3.46	6.16	6.16	0.99307	.	0.038739	0.85682	D	0.000000	T	0.08537	0.0212	L	0.59436	1.845	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.20874	-1.0262	10	0.12766	T	0.61	.	13.7782	0.63066	0.0:0.0:0.1273:0.8727	.	1729	P20929	NEBU_HUMAN	L	1729	ENSP00000386259:M1729L;ENSP00000380505:M1729L;ENSP00000416578:M1729L;ENSP00000172853:M1729L	ENSP00000172853:M1729L	M	-	1	0	NEB	152230146	0.998000	0.40836	1.000000	0.80357	0.925000	0.55904	3.445000	0.52921	2.367000	0.80283	0.528000	0.53228	ATG		0.507	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		30	38	0	0	0	1	0	30	38				
EMILIN2	84034	broad.mit.edu	37	18	2913224	2913224	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr18:2913224C>T	ENST00000254528.3	+	8	3143	c.2984C>T	c.(2983-2985)cCt>cTt	p.P995L	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	995	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TACCACCGCCCTCCAGGAGCT	0.632																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(2983-2985)cCt>cTt		elastin microfibril interfacer 2							39.0	41.0	40.0					18																	2913224		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2913224C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2984C>T	18.37:g.2913224C>T	ENSP00000254528:p.Pro995Leu					EMILIN2_ENST00000308080.5_3'UTR	p.P995L	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	8	3143	+			995			C1q.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2984C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	9.943	1.218079	0.22373	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	T	0.36157	1.27	5.61	5.61	0.85477	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.074341	0.56097	D	0.000024	T	0.43433	0.1247	M	0.71581	2.175	0.46981	D	0.999275	B	0.24186	0.099	B	0.27887	0.084	T	0.26430	-1.0103	10	0.25751	T	0.34	-17.9305	20.0086	0.97443	0.0:1.0:0.0:0.0	.	995	Q9BXX0	EMIL2_HUMAN	L	995;272	ENSP00000254528:P995L	ENSP00000254528:P995L	P	+	2	0	EMILIN2	2903224	0.970000	0.33590	0.083000	0.20561	0.053000	0.15095	4.727000	0.61993	2.808000	0.96608	0.655000	0.94253	CCT		0.632	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		4	75	0	0	0	1	0	4	75				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	76	1	0	2.0095e-06	1	2.24394e-06	5	76				
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	ACCTTTACACGTTGGCTTCTC	0.443																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(892-894)aCg>aTg		selectin E							139.0	129.0	133.0					1																	169698637		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698637G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.893C>T	1.37:g.169698637G>A	ENSP00000331736:p.Thr298Met					SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron	p.T298M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			6	1032	-	all_hematologic(923;0.208)		298			Sushi 2.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.893C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267890	0.10349	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.71	-3.56	0.04626	Complement control module (2);Sushi/SCR/CCP (3);	0.343688	0.21421	N	0.074815	T	0.45296	0.1335	M	0.87456	2.885	0.09310	N	1	B	0.31413	0.322	B	0.32624	0.149	T	0.49952	-0.8884	10	0.46703	T	0.11	-1.6173	5.0622	0.14562	0.4003:0.0:0.3852:0.2145	.	298	P16581	LYAM2_HUMAN	M	298;298;236;298;298;298;236;298;298	ENSP00000356755:T298M;ENSP00000356756:T298M;ENSP00000356754:T236M;ENSP00000356753:T298M;ENSP00000331736:T298M;ENSP00000356751:T298M;ENSP00000356749:T236M;ENSP00000356750:T298M;ENSP00000356748:T298M	ENSP00000331736:T298M	T	-	2	0	SELE	167965261	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.589000	0.00900	-0.349000	0.08274	-1.801000	0.00618	ACG		0.443	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		80	93	0	0	0	1	0	80	93				
KLHL30	377007	broad.mit.edu	37	2	239051515	239051515	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:239051515G>A	ENST00000409223.1	+	3	957	c.850G>A	c.(850-852)Gca>Aca	p.A284T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A266T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	284										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGGAGGAGGCAGGTGAGGA	0.672																																						ENST00000409223.1																			0				lung(4)	4						c.(850-852)Gca>Aca		kelch-like family member 30							27.0	42.0	37.0					2																	239051515		2051	4186	6237	SO:0001583	missense	377007							g.chr2:239051515G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.850G>A	2.37:g.239051515G>A	ENSP00000386389:p.Ala284Thr					KLHL30_ENST00000305959.4_Missense_Mutation_p.A266T	p.A284T			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	3	957	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	284					Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.850G>A	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	G	5.000	0.185739	0.09495	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.73789	-0.77;-0.78	4.67	4.67	0.58626	Kelch-type beta propeller (1);	0.859088	0.10313	N	0.689694	T	0.57533	0.2060	N	0.08118	0	0.20821	N	0.999847	B	0.19817	0.039	B	0.12837	0.008	T	0.31223	-0.9951	10	0.18276	T	0.48	.	16.3356	0.83059	0.0:0.0:1.0:0.0	.	284	Q0D2K2	KLH30_HUMAN	T	284;266	ENSP00000386389:A284T;ENSP00000302386:A266T	ENSP00000302386:A266T	A	+	1	0	KLHL30	238716254	1.000000	0.71417	0.714000	0.30535	0.080000	0.17528	7.226000	0.78060	2.156000	0.67533	0.555000	0.69702	GCA		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		4	15	0	0	0	1	0	4	15				
LOC101927209	101927209	broad.mit.edu	37	1	142660120	142660120	+	lincRNA	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:142660120C>A	ENST00000610091.1	-	0	3560				RP11-417J8.3_ENST00000426408.1_lincRNA																							GAATTTCAGCCAAAGTGGCCA	0.438																																						ENST00000369381.2																			0																																																			0							g.chr1:142660120C>A																													1.37:g.142660120C>A						RP11-417J8.3_ENST00000426408.1_lincRNA								0	2507	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.438	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	22	1	0	0.00198382	1	0.0021438	6	22				
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:130952718A>G	ENST00000393608.1	-	3	378	c.176T>C	c.(175-177)cTc>cCc	p.L59P	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron|CIZ1_ENST00000538431.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	59					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(175-177)cTc>cCc		CDKN1A interacting zinc finger protein 1							25.0	24.0	25.0					9																	130952718		2203	4300	6503	SO:0001583	missense	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130952718A>G	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.176T>C	9.37:g.130952718A>G	ENSP00000377232:p.Leu59Pro					CIZ1_ENST00000372954.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372938.5_Missense_Mutation_p.L59P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000357558.5_Missense_Mutation_p.L59P|CIZ1_ENST00000325721.8_Missense_Mutation_p.L59P|CIZ1_ENST00000277465.4_Missense_Mutation_p.L59P|CIZ1_ENST00000393608.1_Missense_Mutation_p.L59P|CIZ1_ENST00000372948.3_Missense_Mutation_p.L59P|CIZ1_ENST00000541172.1_Intron	p.L59P	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			3	423	-			59					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	ENST00000393608.1	37	c.176T>C	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.300687	0.40694	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526;ENST00000324544;ENST00000420484	T;T;T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.31	4.31	0.51392	.	0.401761	0.18500	N	0.139371	D	0.82893	0.5136	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.995;1.0;1.0;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D;D	0.91635	0.986;0.999;0.976;0.999;0.999;0.998;0.943;0.999	D	0.83844	0.0259	10	0.87932	D	0	-23.1311	10.9807	0.47492	1.0:0.0:0.0:0.0	.	59;59;59;59;59;59;59;59	B7Z3U7;B4E0A3;F5H2X7;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;.;CIZ1_HUMAN;.;.	P	59;59;59;59;59;26;59;59;59;59;10;59;59	ENSP00000362045:L59P;ENSP00000377232:L59P;ENSP00000439244:L59P;ENSP00000350169:L59P;ENSP00000320374:L59P;ENSP00000277465:L59P;ENSP00000362039:L59P;ENSP00000362029:L59P;ENSP00000398011:L10P;ENSP00000321780:L59P;ENSP00000407265:L59P	ENSP00000277465:L59P	L	-	2	0	CIZ1	129992539	1.000000	0.71417	0.992000	0.48379	0.052000	0.14988	4.437000	0.59955	1.823000	0.53134	0.533000	0.62120	CTC		0.582	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		5	26	0	0	0	1	0	5	26				
HEBP1	50865	broad.mit.edu	37	12	13155006	13155006	+	5'Flank	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:13155006G>C	ENST00000014930.4	-	0	0				HEBP1_ENST00000536942.1_5'Flank|RP11-377D9.3_ENST00000543321.1_lincRNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1						circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		CGTACCCTATGAGGCAGAAGG	0.483																																						ENST00000543321.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr12:13155006G>C	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771		12.37:g.13155006G>C	Exception_encountered					HTR7P1_ENST00000535469.1_RNA								0	31	+								A8K1G2|Q9Y5Z5	RNA	SNP	ENST00000014930.4	37		CCDS31749.1																																																																																				0.483	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1			4	14	0	0	0	1	0	4	14				
PRODH2	58510	broad.mit.edu	37	19	36302867	36302867	+	Silent	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:36302867C>T	ENST00000301175.3	-	5	839	c.822G>A	c.(820-822)ggG>ggA	p.G274G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	274					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTTACCTGCCCAGAGTCCA	0.597																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(820-822)ggG>ggA		proline dehydrogenase (oxidase) 2							50.0	45.0	46.0					19																	36302867		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36302867C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.822G>A	19.37:g.36302867C>T							p.G274G	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	839	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		274						Silent	SNP	ENST00000301175.3	37	c.822G>A	CCDS12478.1																																																																																				0.597	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		23	13	0	0	0	1	0	23	13				
IL1RL2	8808	broad.mit.edu	37	2	102805614	102805614	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:102805614C>A	ENST00000264257.2	+	3	263	c.137C>A	c.(136-138)cCc>cAc	p.P46H	IL1RL2_ENST00000539491.1_Missense_Mutation_p.P46H|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	46	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATTCCCTCCCATAACATCT	0.378																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(136-138)cCc>cAc		interleukin 1 receptor-like 2							92.0	89.0	90.0					2																	102805614		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805614C>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.137C>A	2.37:g.102805614C>A	ENSP00000264257:p.Pro46His					IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P46H|IL1RL2_ENST00000481806.1_Intron	p.P46H	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			3	263	+			46			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.137C>A	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981624	0.74474	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.33654	4.14;1.4;4.14	5.86	0.259	0.15583	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.568239	0.14791	N	0.298218	T	0.43211	0.1237	M	0.64997	1.995	0.09310	N	1	P	0.52170	0.951	P	0.59115	0.852	T	0.22034	-1.0228	10	0.35671	T	0.21	.	3.0813	0.06262	0.3146:0.3982:0.0:0.2871	.	46	Q9HB29	ILRL2_HUMAN	H	46	ENSP00000264257:P46H;ENSP00000387611:P46H;ENSP00000442184:P46H	ENSP00000264257:P46H	P	+	2	0	IL1RL2	102172046	0.000000	0.05858	0.000000	0.03702	0.667000	0.39255	0.246000	0.18160	0.099000	0.17552	0.650000	0.86243	CCC		0.378	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		9	144	1	0	0.00621372	1	0.00660824	9	144				
CYP1A1	1543	broad.mit.edu	37	15	75012968	75012968	+	Silent	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:75012968G>C	ENST00000379727.3	-	7	1599	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	CYP1A1_ENST00000567032.1_Silent_p.V467V|CYP1A1_ENST00000395048.2_Silent_p.V467V|CYP1A1_ENST00000395049.4_Silent_p.V438V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	467					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	GGAAGAGAAAGACCTCCCAGC	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													ENST00000379727.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1399-1401)gtC>gtG		cytochrome P450, family 1, subfamily A, polypeptide 1	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						118.0	106.0	110.0					15																	75012968		2197	4296	6493	SO:0001819	synonymous_variant	1543	Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75012968G>C	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.1401C>G	15.37:g.75012968G>C						CYP1A1_ENST00000395048.2_Silent_p.V467V|CYP1A1_ENST00000395049.4_Silent_p.V438V|CYP1A1_ENST00000567032.1_Silent_p.V467V	p.V467V			P04798	CP1A1_HUMAN			7	1599	-			467					A4F3V9|A4F3W0|Q53G18	Silent	SNP	ENST00000379727.3	37	c.1401C>G	CCDS10268.1																																																																																				0.542	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		35	138	0	0	0	1	0	35	138				
PDHA1	5160	broad.mit.edu	37	X	19368118	19368118	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:19368118G>C	ENST00000422285.2	+	3	286	c.181G>C	c.(181-183)Ggg>Cgg	p.G61R	PDHA1_ENST00000545074.1_Missense_Mutation_p.G61R|PDHA1_ENST00000379805.3_Missense_Mutation_p.G61R|PDHA1_ENST00000540249.1_Missense_Mutation_p.G61R|PDHA1_ENST00000379806.5_Missense_Mutation_p.G99R			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	61					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CAGGGAGGATGGGCTCAAATA	0.453																																						ENST00000379806.5																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18						c.(295-297)Ggg>Cgg		pyruvate dehydrogenase (lipoamide) alpha 1	NADH(DB00157)						184.0	146.0	159.0					X																	19368118		2203	4300	6503	SO:0001583	missense	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19368118G>C		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.181G>C	X.37:g.19368118G>C	ENSP00000394382:p.Gly61Arg					PDHA1_ENST00000379805.3_Missense_Mutation_p.G61R|PDHA1_ENST00000545074.1_Missense_Mutation_p.G61R|PDHA1_ENST00000422285.2_Missense_Mutation_p.G61R|PDHA1_ENST00000540249.1_Missense_Mutation_p.G61R	p.G99R	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN			4	440	+	Hepatocellular(33;0.183)		61					A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	c.295G>C	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825020	0.90955	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000417819;ENST00000422285;ENST00000355808;ENST00000379815;ENST00000379805	D;D;D;D;D;D;D;D	0.99167	-4.29;-4.29;-4.29;-4.29;-5.51;-4.29;-4.29;-4.29	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	M	0.79475	2.455	0.80722	D	1	B;D;D;D;D	0.76494	0.107;0.999;0.999;0.996;0.999	B;D;D;D;D	0.70016	0.027;0.957;0.967;0.931;0.967	D	0.99904	1.1172	10	0.30078	T	0.28	-2.7899	18.046	0.89332	0.0:0.0:1.0:0.0	.	61;61;61;99;61	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	R	99;61;61;99;89;61;61;89;61	ENSP00000369134:G99R;ENSP00000438550:G61R;ENSP00000440761:G61R;ENSP00000406473:G99R;ENSP00000404616:G89R;ENSP00000394382:G61R;ENSP00000348062:G61R;ENSP00000369133:G61R	ENSP00000348062:G61R	G	+	1	0	PDHA1	19278039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.466000	0.80914	2.283000	0.76528	0.600000	0.82982	GGG		0.453	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			74	95	0	0	0	1	0	74	95				
DSCAML1	57453	broad.mit.edu	37	11	117308781	117308781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:117308781G>T	ENST00000321322.6	-	25	4443	c.4442C>A	c.(4441-4443)tCg>tAg	p.S1481*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.S1211*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGTCCACCGAGTACTGTAG	0.612																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(4441-4443)tCg>tAg		Down syndrome cell adhesion molecule like 1							77.0	58.0	65.0					11																	117308781		2201	4296	6497	SO:0001587	stop_gained	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117308781G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4442C>A	11.37:g.117308781G>T	ENSP00000315465:p.Ser1481*					DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.S1211*	p.S1481*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	25	4443	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1421			Fibronectin type-III 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Nonsense_Mutation	SNP	ENST00000321322.6	37	c.4442C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	42	9.528367	0.99196	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0825	0.86602	0.0:0.0:1.0:0.0	.	.	.	.	X	1211;1481;1188	.	ENSP00000315465:S1481X	S	-	2	0	DSCAML1	116813991	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	9.551000	0.98112	2.313000	0.78055	0.549000	0.68633	TCG		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		3	62	1	0	1	1	1	3	62				
MAGEB2	4113	broad.mit.edu	37	X	30237371	30237371	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:30237371A>T	ENST00000378988.4	+	2	775	c.674A>T	c.(673-675)gAa>gTa	p.E225V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	225	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGATCTGGGAATTCCTGAAT	0.483																																						ENST00000378988.4																			0				breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						c.(673-675)gAa>gTa		melanoma antigen family B, 2							70.0	62.0	64.0					X																	30237371		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237371A>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.674A>T	X.37:g.30237371A>T	ENSP00000368273:p.Glu225Val						p.E225V	NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN			2	775	+			225			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.674A>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014951	0.75161	.	.	ENSG00000099399	ENST00000378988	T	0.05649	3.41	3.27	3.27	0.37495	.	0.309163	0.34314	N	0.004077	T	0.16727	0.0402	M	0.93283	3.4	0.20489	N	0.999898	P	0.47762	0.9	P	0.45449	0.481	T	0.20974	-1.0259	10	0.87932	D	0	.	7.3268	0.26560	1.0:0.0:0.0:0.0	.	225	O15479	MAGB2_HUMAN	V	225	ENSP00000368273:E225V	ENSP00000368273:E225V	E	+	2	0	MAGEB2	30147292	0.826000	0.29277	0.383000	0.26132	0.906000	0.53458	1.531000	0.36018	1.539000	0.49286	0.356000	0.21956	GAA		0.483	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		14	59	0	0	0	1	0	14	59				
MIR520E	574461	broad.mit.edu	37	19	54177516	54177516	+	RNA	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:54177516A>G	ENST00000384867.1	+	0	0				MIR1323_ENST00000408090.1_RNA|MIR498_ENST00000385134.1_RNA	NR_030183.1				microRNA 520e																		CTATAACTGGATGAAAAGCAC	0.443																																						ENST00000385134.1																			0																				99.0	94.0	95.0					19																	54177516		1568	3582	5150			0							g.chr19:54177516A>G			19q13.42	2011-09-12		2008-12-18	ENSG00000207599	ENSG00000207599		"""ncRNAs / Micro RNAs"""	32093	non-coding RNA	RNA, micro				MIRN520E			Standard	NR_030183		Approved	hsa-mir-520e	uc021uzn.1				19.37:g.54177516A>G								NR_030182.1						0	66	+									RNA	SNP	ENST00000384867.1	37																																																																																						0.443	MIR520E-201	KNOWN	basic	miRNA	miRNA		NR_030183		86	21	0	0	0	1	0	86	21				
BRWD1	54014	broad.mit.edu	37	21	40590181	40590181	+	Missense_Mutation	SNP	C	C	T	rs75547980		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr21:40590181C>T	ENST00000333229.2	-	31	3883	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Missense_Mutation_p.A1186T|BRWD1_ENST00000342449.3_Missense_Mutation_p.A1186T	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1186	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGGGCCTGCAAAAGCTGCT	0.368																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(3556-3558)Gca>Aca		bromodomain and WD repeat domain containing 1							104.0	104.0	104.0					21																	40590181		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40590181C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3556G>A	21.37:g.40590181C>T	ENSP00000330753:p.Ala1186Thr					BRWD1_ENST00000333229.2_Missense_Mutation_p.A1186T|BRWD1_ENST00000380800.3_Missense_Mutation_p.A1186T|BRWD1-IT1_ENST00000435608.1_RNA	p.A1186T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			31	3634	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1186			Bromo 1.		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.3556G>A	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.974675|2.974675	0.53720|0.53720	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.56|5.56	4.66|4.66	0.58398|0.58398	Bromodomain (5);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.68815|0.68815	0.3042|0.3042	L|L	0.55743|0.55743	1.74|1.74	0.80722|0.80722	D|D	1|1	B;P;P|.	0.45715|.	0.123;0.581;0.865|.	B;B;P|.	0.54346|.	0.198;0.287;0.749|.	T|T	0.67213|0.67213	-0.5727|-0.5727	10|5	0.45353|.	T|.	0.12|.	-5.9784|-5.9784	15.5786|15.5786	0.76414|0.76414	0.1391:0.8609:0.0:0.0|0.1391:0.8609:0.0:0.0	.|.	1186;1186;1186|.	Q9NSI6-3;Q9NSI6-2;Q9NSI6|.	.;.;BRWD1_HUMAN|.	T|Y	1186;1186;1186;190|171	ENSP00000330753:A1186T;ENSP00000344333:A1186T;ENSP00000370178:A1186T|.	ENSP00000330753:A1186T|.	A|C	-|-	1|2	0|0	BRWD1|BRWD1	39512051|39512051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.790000|1.790000	0.38734|0.38734	1.313000|1.313000	0.45069|0.45069	0.462000|0.462000	0.41574|0.41574	GCA|TGC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		23	136	0	0	0	1	0	23	136				
ATP13A3	79572	broad.mit.edu	37	3	194170983	194170983	+	Silent	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:194170983G>A	ENST00000439040.1	-	11	1652	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP13A3_ENST00000256031.4_Silent_p.T287T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	287						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCACAAGGTCGGTAGAAAAGA	0.343																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(859-861)acC>acT		ATPase type 13A3							67.0	58.0	61.0					3																	194170983		1864	4097	5961	SO:0001819	synonymous_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194170983G>A	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.861C>T	3.37:g.194170983G>A						ATP13A3_ENST00000256031.4_Silent_p.T287T	p.T287T			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	11	1652	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	287					Q8NC11|Q96KS1	Silent	SNP	ENST00000439040.1	37	c.861C>T	CCDS43187.1																																																																																				0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		4	83	0	0	0	1	0	4	83				
KRT33B	3884	broad.mit.edu	37	17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr17:39521763C>T	ENST00000251646.3	-	4	680	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	211	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(631-633)Gtg>Atg		keratin 33B							62.0	61.0	61.0					17																	39521763		2191	4300	6491	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521763C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.631G>A	17.37:g.39521763C>T	ENSP00000251646:p.Val211Met						p.V211M	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			4	680	-		Breast(137;0.000496)	211			Linker 12.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.631G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	25.5	4.641356	0.87859	.	.	ENSG00000131738	ENST00000251646	D	0.92299	-3.01	4.51	4.51	0.55191	Filament (1);	0.119655	0.38436	N	0.001685	D	0.95921	0.8672	M	0.84082	2.675	0.46203	D	0.998927	D	0.76494	0.999	D	0.67231	0.95	D	0.96541	0.9400	10	0.87932	D	0	.	16.7327	0.85439	0.0:1.0:0.0:0.0	.	211	Q14525	KT33B_HUMAN	M	211	ENSP00000251646:V211M	ENSP00000251646:V211M	V	-	1	0	KRT33B	36775289	0.994000	0.37717	1.000000	0.80357	0.888000	0.51559	3.159000	0.50731	2.474000	0.83562	0.650000	0.86243	GTG		0.522	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		26	35	0	0	0	1	0	26	35				
LMO7	4008	broad.mit.edu	37	13	76382215	76382215	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr13:76382215G>A	ENST00000321797.8	+	8	1818	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	LMO7_ENST00000357063.3_Missense_Mutation_p.G651E|LMO7_ENST00000377534.3_Missense_Mutation_p.G651E|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_Missense_Mutation_p.G366E			Q8WWI1	LMO7_HUMAN	LIM domain 7	651					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAAACTGGGAACTACCGTG	0.498																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1951-1953)gGa>gAa		LIM domain 7							66.0	62.0	63.0					13																	76382215		1568	3582	5150	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76382215G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1097G>A	13.37:g.76382215G>A	ENSP00000317802:p.Gly366Glu					LMO7_ENST00000377534.3_Missense_Mutation_p.G651E|LMO7_ENST00000321797.8_Missense_Mutation_p.G366E|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.G366E|LMO7_ENST00000341547.4_Intron	p.G651E			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	11	3212	+		Breast(118;0.0992)	651					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1952G>A		.	.	.	.	.	.	.	.	.	.	G	15.94	2.981155	0.53827	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.67	5.67	0.87782	.	0.430681	0.26594	N	0.023508	T	0.65196	0.2668	M	0.63428	1.95	0.40051	D	0.975777	D;D	0.89917	1.0;1.0	D;D	0.72075	0.968;0.976	T	0.62492	-0.6843	10	0.39692	T	0.17	-25.434	15.6065	0.76676	0.0:0.1369:0.8631:0.0	.	651;366	Q8WWI1;E9PLH4	LMO7_HUMAN;.	E	651;651;366;366	ENSP00000349571:G651E;ENSP00000366757:G651E;ENSP00000317802:G366E;ENSP00000433352:G366E	ENSP00000317802:G366E	G	+	2	0	LMO7	75280216	1.000000	0.71417	0.985000	0.45067	0.404000	0.30871	5.897000	0.69831	2.836000	0.97738	0.655000	0.94253	GGA		0.498	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		25	54	0	0	0	1	0	25	54				
NLGN3	54413	broad.mit.edu	37	X	70387552	70387552	+	Missense_Mutation	SNP	G	G	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:70387552G>T	ENST00000358741.3	+	7	1908	c.1605G>T	c.(1603-1605)atG>atT	p.M535I	NLGN3_ENST00000374051.3_Missense_Mutation_p.M515I|NLGN3_ENST00000536169.1_Missense_Mutation_p.M495I|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	535					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGGTTCCTATGGTAGGCCCCA	0.498																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1543-1545)atG>atT		neuroligin 3							161.0	132.0	142.0					X																	70387552		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70387552G>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1605G>T	X.37:g.70387552G>T	ENSP00000351591:p.Met535Ile					NLGN3_ENST00000536169.1_Missense_Mutation_p.M495I|NLGN3_ENST00000358741.3_Missense_Mutation_p.M535I|NLGN3_ENST00000476589.1_3'UTR	p.M515I	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			6	1867	+	Renal(35;0.156)		535					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.1545G>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660735	0.47572	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.49	4.49	0.54785	Carboxylesterase, type B (1);	0.038020	0.85682	D	0.000000	T	0.58892	0.2154	L	0.28776	0.89	0.80722	D	1	B;B;B	0.26195	0.029;0.032;0.144	B;B;B	0.30401	0.033;0.1;0.115	T	0.61073	-0.7136	10	0.56958	D	0.05	.	16.5656	0.84588	0.0:0.0:1.0:0.0	.	495;535;515	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	I	495;515;495;535	ENSP00000445298:M495I;ENSP00000363163:M515I;ENSP00000379196:M495I;ENSP00000351591:M535I	ENSP00000351591:M535I	M	+	3	0	NLGN3	70304277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.082000	0.62665	0.508000	0.49915	ATG		0.498	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		11	269	1	0	1.08611e-07	1	1.23338e-07	11	269				
HRNR	388697	broad.mit.edu	37	1	152193228	152193228	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:152193228A>G	ENST00000368801.2	-	3	952	c.877T>C	c.(877-879)Tct>Cct	p.S293P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	293					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCCAAAGACTGACGGGAA	0.607																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(877-879)Tct>Cct		hornerin							199.0	190.0	193.0					1																	152193228		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193228A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.877T>C	1.37:g.152193228A>G	ENSP00000357791:p.Ser293Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S293P	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	952	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		293					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.877T>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	A	8.303	0.820413	0.16678	.	.	ENSG00000197915	ENST00000368801	T	0.01725	4.67	4.04	-1.73	0.08081	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.21821	0.061	B	0.15870	0.014	T	0.45483	-0.9258	9	0.32370	T	0.25	.	0.1328	0.00075	0.3514:0.154:0.1935:0.3011	.	293	Q86YZ3	HORN_HUMAN	P	293	ENSP00000357791:S293P	ENSP00000357791:S293P	S	-	1	0	HRNR	150459852	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.158000	0.16422	-0.131000	0.11578	-0.268000	0.10319	TCT		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		13	301	0	0	0	1	0	13	301				
INO80B	83444	broad.mit.edu	37	2	74684817	74684817	+	Silent	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:74684817G>A	ENST00000233331.7	+	5	991	c.897G>A	c.(895-897)cgG>cgA	p.R299R	WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000409737.1_5'Flank|WBP1_ENST00000233615.2_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	299					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGTCTCAGCGGCCATCCCCCT	0.716																																						ENST00000233331.7																			0				endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						c.(895-897)cgG>cgA		INO80 complex subunit B																																				SO:0001819	synonymous_variant	83444				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	g.chr2:74684817G>A	AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"""Zinc fingers, HIT-type"", ""INO80 complex subunits"""	13324	protein-coding gene	gene with protein product	"""PAP-1 binding protein"", ""IES2 homolog (S. cerevisiae)"""		"""high mobility group AT-hook 1-like 4"", ""zinc finger, HIT type 4"""	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.897G>A	2.37:g.74684817G>A							p.R299R	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN			5	991	+			299						Silent	SNP	ENST00000233331.7	37	c.897G>A	CCDS1942.2																																																																																				0.716	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252223.2	NM_031288		3	36	0	0	0	1	0	3	36				
LAMP2	3920	broad.mit.edu	37	X	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:119581704G>A	ENST00000200639.4	-	5	869	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*|LAMP2_ENST00000371335.4_Nonsense_Mutation_p.Q245*			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	245	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403																																						ENST00000371335.4																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(733-735)Cag>Tag		lysosomal-associated membrane protein 2							205.0	169.0	181.0					X																	119581704		2203	4300	6503	SO:0001587	stop_gained	0				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119581704G>A	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.733C>T	X.37:g.119581704G>A	ENSP00000200639:p.Gln245*					LAMP2_ENST00000200639.4_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*	p.Q245*	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN			5	869	-			245			Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Nonsense_Mutation	SNP	ENST00000200639.4	37	c.733C>T	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	g	37	6.198455	0.97367	.	.	ENSG00000005893	ENST00000434600;ENST00000538785;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.92	2.85	0.33270	.	1.148760	0.06230	N	0.688518	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	0.8324	5.98	0.19401	0.0773:0.2273:0.5683:0.1272	.	.	.	.	X	245;134;245;245;198	.	ENSP00000200639:Q245X	Q	-	1	0	LAMP2	119465732	1.000000	0.71417	0.855000	0.33649	0.991000	0.79684	1.756000	0.38390	0.611000	0.30052	0.597000	0.82753	CAG		0.403	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			19	238	0	0	0	1	0	19	238				
ELL	8178	broad.mit.edu	37	19	18557617	18557617	+	Silent	SNP	G	G	A	rs73923115	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:18557617G>A	ENST00000262809.4	-	9	1544	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	ELL_ENST00000596124.3_Silent_p.N358N	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	491					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCAGGTTCCGTTTAAACCTA	0.572			T	MLL	AL								g|||	12	0.00239617	0.0076	0.0	5008	,	,		22951	0.001		0.0	False		,,,				2504	0.001					ENST00000262809.4				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(1471-1473)aaC>aaT		elongation factor RNA polymerase II				21,4385	28.1+/-56.4	0,21,2182	103.0	86.0	92.0		1473	-4.3	0.0	19	dbSNP_130	92	0,8600		0,0,4300	yes	coding-synonymous	ELL	NM_006532.3		0,21,6482	AA,AG,GG		0.0,0.4766,0.1615		491/622	18557617	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18557617G>A	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1473C>T	19.37:g.18557617G>A							p.N491N	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	9	1544	-			491						Silent	SNP	ENST00000262809.4	37	c.1473C>T	CCDS12380.1																																																																																				0.572	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		13	50	0	0	0	1	0	13	50				
ATP7A	538	broad.mit.edu	37	X	77301816	77301816	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:77301816T>G	ENST00000341514.6	+	23	4407	c.4252T>G	c.(4252-4254)Tat>Gat	p.Y1418D	ATP7A_ENST00000350425.4_Missense_Mutation_p.Y421D|ATP7A_ENST00000343533.5_Missense_Mutation_p.Y1340D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1418					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TTACGAGAGTTATGAACTGCC	0.413																																						ENST00000341514.6																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(4252-4254)Tat>Gat		ATPase, Cu++ transporting, alpha polypeptide							121.0	116.0	118.0					X																	77301816		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77301816T>G	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.4252T>G	X.37:g.77301816T>G	ENSP00000345728:p.Tyr1418Asp					ATP7A_ENST00000350425.4_Missense_Mutation_p.Y421D|ATP7A_ENST00000343533.5_Missense_Mutation_p.Y1340D	p.Y1418D	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN			23	4407	+			1418					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.4252T>G	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943826	0.34283	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	T;T;T	0.77229	-1.08;-1.08;-1.08	4.97	3.76	0.43208	.	0.300890	0.30329	N	0.009863	T	0.75206	0.3818	L	0.42245	1.32	0.09310	N	0.999995	P	0.49358	0.923	P	0.54629	0.757	T	0.64968	-0.6282	10	0.45353	T	0.12	-12.9991	3.5667	0.07903	0.1743:0.1798:0.0:0.6459	.	1418	Q04656	ATP7A_HUMAN	D	1340;421;1418	ENSP00000343026:Y1340D;ENSP00000343678:Y421D;ENSP00000345728:Y1418D	ENSP00000345728:Y1418D	Y	+	1	0	ATP7A	77188472	0.992000	0.36948	0.870000	0.34147	0.655000	0.38815	1.512000	0.35812	0.546000	0.28920	0.417000	0.27973	TAT		0.413	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052		15	343	0	0	0	1	0	15	343				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	rs121913503		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aTg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>A		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>T	15.37:g.90631838C>A	ENSP00000331897:p.Arg172Met					IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M	p.R172M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>T	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325761	0.41197	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87029	-2.2;-2.2;-2.2	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	H	0.98487	4.245	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.95498	0.8575	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	M	172;42;120	ENSP00000331897:R172M;ENSP00000438457:R42M;ENSP00000446147:R120M	ENSP00000331897:R172M	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			63	76	1	0	7.05995e-25	1	8.44673e-25	63	76				
SIT1	27240	broad.mit.edu	37	9	35650242	35650242	+	Splice_Site	SNP	C	C	T			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:35650242C>T	ENST00000259608.3	-	4	382	c.296G>A	c.(295-297)gGa>gAa	p.G99E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	99					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACAGCCGTCCTGGGACGGG	0.627																																						ENST00000259608.3																			0				endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9						c.e4-1		signaling threshold regulating transmembrane adaptor 1							72.0	76.0	75.0					9																	35650242		2203	4300	6503	SO:0001630	splice_region_variant	27240				regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding	g.chr9:35650242C>T		CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.296-1G>A	9.37:g.35650242C>T						SIT1_ENST00000474403.1_5'UTR	p.G99_splice	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	382	-			99					B2RBP9	Splice_Site	SNP	ENST00000259608.3	37	c.295_splice	CCDS6582.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600744	0.66332	.	.	ENSG00000137078	ENST00000259608	T	0.41758	0.99	5.03	5.03	0.67393	.	0.000000	0.50627	D	0.000117	T	0.53367	0.1792	L	0.34521	1.04	0.44685	D	0.997672	D	0.89917	1.0	D	0.91635	0.999	T	0.56141	-0.8028	10	0.87932	D	0	.	14.2426	0.65966	0.0:1.0:0.0:0.0	.	99	Q9Y3P8	SIT1_HUMAN	E	99	ENSP00000259608:G99E	ENSP00000259608:G99E	G	-	2	0	SIT1	35640242	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	2.234000	0.43035	2.504000	0.84457	0.462000	0.41574	GGA		0.627	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052322.1	NM_014450	Missense_Mutation	52	75	0	0	0	1	0	52	75				
CDH5	1003	broad.mit.edu	37	16	66436644	66436644	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr16:66436644G>A	ENST00000341529.3	+	12	2075	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	CDH5_ENST00000539168.1_Missense_Mutation_p.V82I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	643					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGAGCAGCTGGTCACCTACGA	0.711																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1927-1929)Gtc>Atc		cadherin 5, type 2 (vascular endothelium)							24.0	25.0	24.0					16																	66436644		2193	4293	6486	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436644G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1927G>A	16.37:g.66436644G>A	ENSP00000344115:p.Val643Ile					CDH5_ENST00000539168.1_Missense_Mutation_p.V82I	p.V643I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2075	+		Ovarian(137;0.0955)	643					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1927G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075813	0.76415	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.75938	-0.98;-0.98	5.32	5.32	0.75619	Cadherin, cytoplasmic domain (1);	.	.	.	.	T	0.80433	0.4622	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75156	-0.3417	9	0.17369	T	0.5	.	17.9878	0.89160	0.0:0.0:1.0:0.0	.	643	P33151	CADH5_HUMAN	I	643;528;384;82	ENSP00000344115:V643I;ENSP00000461880:V82I	ENSP00000344115:V643I	V	+	1	0	CDH5	64994145	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.827000	0.86722	2.481000	0.83766	0.462000	0.41574	GTC		0.711	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		5	16	0	0	0	1	0	5	16				
OR52B6	340980	broad.mit.edu	37	11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A	rs199604989		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:5602864G>A	ENST00000345043.2	+	1	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGCCCGCTCCAAGGCC	0.507																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(757-759)cGc>cAc		olfactory receptor, family 52, subfamily B, member 6		G	HIS/ARG	0,4028		0,0,2014	221.0	236.0	232.0		758	3.0	0.4	11		232	2,8344		0,2,4171	no	missense	OR52B6	NM_001005162.2	29	0,2,6185	AA,AG,GG		0.024,0.0,0.0162	possibly-damaging	253/336	5602864	2,12372	2014	4173	6187	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602864G>A	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.758G>A	11.37:g.5602864G>A	ENSP00000341581:p.Arg253His					AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	p.R253H	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	758	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	253					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.758G>A	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620939	0.28889	0.0	2.4E-4	ENSG00000187747	ENST00000345043	T	0.00333	8.07	4.99	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.218860	0.22458	U	0.059787	T	0.00468	0.0015	M	0.92459	3.31	0.09310	N	1	P	0.43024	0.798	B	0.41135	0.348	T	0.26677	-1.0096	10	0.87932	D	0	.	8.4541	0.32888	0.2054:0.0:0.7946:0.0	.	253	Q8NGF0	O52B6_HUMAN	H	253	ENSP00000341581:R253H	ENSP00000341581:R253H	R	+	2	0	OR52B6	5559440	0.000000	0.05858	0.418000	0.26571	0.558000	0.35554	0.148000	0.16224	1.333000	0.45449	0.650000	0.86243	CGC		0.507	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		37	307	0	0	0	1	0	37	307				
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			0							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			6	7						6	7	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	lincRNA	DEL	CACACA	CACACA	-	rs61579002|rs398051454|rs7650195	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544																																						ENST00000497896.1																			0																																																			0							g.chr3:111197863_111197868delCACACA																													3.37:g.111197869_111197874delCACACA														0	208	-									RNA	DEL	ENST00000497896.1	37																																																																																						0.544	RP11-615J4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000354056.1			4	3						4	3	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(142-144)gccfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388441_1388442insCG	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	Exception_encountered	4.37:g.1388441_1388442insCG	ENSP00000323978:p.Met48fs						p.A48fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3102_3103	+			48					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.142_143insCG	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		9	691						9	691	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14252331	14252334	+	RNA	DEL	TTCA	TTCA	-	rs3078460|rs536213192|rs142059175|rs561892213	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:14252331_14252334delTTCA	ENST00000310358.7	+	0	1360							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ccttccttccttcattttttcGTG	0.475																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14252331_14252334delTTCA	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14252331_14252334delTTCA										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1360	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.475	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		4	3						4	3	---	---	---	---
Unknown	0	broad.mit.edu	37	12	74151336	74151337	+	IGR	INS	-	-	GAAG	rs35355099|rs60404683|rs397733359	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:74151336_74151337insGAAG								RNU6-1012P (78260 upstream) : RP11-295G12.1 (3131 downstream)																							GAGTGAGTTATgaaggaaggaa	0.446														1773	0.354034	0.0257	0.3588	5008	,	,		9704	0.6339		0.4384	False		,,,				2504	0.4192					ENST00000549058.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr12:74151336_74151337insGAAG																													12.37:g.74151341_74151344dupGAAG														0	97	-									RNA	INS		37																																																																																					0	0.446									3	2						3	2	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795241	42795242	+	Frame_Shift_Ins	INS	-	-	GCCCCCT	rs370824841|rs574832764		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:42795241_42795242insGCCCCCT	ENST00000575354.2	+	10	2361_2362	c.2321_2322insGCCCCCT	c.(2320-2325)gcgcccfs	p.-777fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-1686fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-777fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCCCCTGCGCCCCCTGCTG	0.698			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5047-5049)gccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795241_42795242insGCCCCCT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2322_2328dupGCCCCCT	19.37:g.42795242_42795248dupGCCCCCT	ENSP00000458663:p.Ala777fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.A774fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A774fs	p.A1683fs			Q96RK0	CIC_HUMAN			11	5116_5117	+		Prostate(69;0.00682)	774					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5048_5049insGCCCCCT	CCDS12601.1																																																																																				0.698	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			10	27						10	27	---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39933875	39933875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:39933875delC	ENST00000378444.4	-	4	952	c.724delG	c.(724-726)gagfs	p.E242fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.E242fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.E242fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	242					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAAAGCGCTCCCCATTGGTG	0.577			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(724-726)agfs		BCL6 corepressor							76.0	53.0	61.0					X																	39933875		2202	4300	6502	SO:0001589	frameshift_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933875delC	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.724delG	X.37:g.39933875delC	ENSP00000367705:p.Glu242fs					BCOR_ENST00000378455.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.E242fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.E242fs	p.E242fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1086	-			242					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	ENST00000378444.4	37	c.724delG	CCDS48093.1																																																																																				0.577	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		42	68						42	68	---	---	---	---
