#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
WWOX	51741	broad.mit.edu	37	16	78458905	78458905	+	Silent	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:78458905C>T	ENST00000566780.1	+	7	1110	c.744C>T	c.(742-744)tgC>tgT	p.C248C	WWOX_ENST00000408984.3_Silent_p.C248C|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	248	Interaction with MAPT. {ECO:0000250}.|Mediates targeting to the mitochondria. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)	p.C248C(1)|p.A91V(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATGTTTTGTGCCGCTCAGCTC	0.507																																						ENST00000566780.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.C248C(1)|p.A91V(1)	urinary_tract(2)	large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(742-744)tgC>tgT		WW domain containing oxidoreductase							148.0	148.0	148.0					16																	78458905		2011	4186	6197	SO:0001819	synonymous_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78458905C>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.744C>T	16.37:g.78458905C>T						WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Silent_p.C248C	p.C248C	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	7	1110	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	248			Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Silent	SNP	ENST00000566780.1	37	c.744C>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	C	4.877	0.163070	0.09287	.	.	ENSG00000186153	ENST00000299644	.	.	.	5.66	2.26	0.28386	.	.	.	.	.	T	0.59500	0.2198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59021	-0.7532	5	0.66056	D	0.02	.	5.0119	0.14317	0.1435:0.5341:0.0:0.3224	.	.	.	.	V	91	.	ENSP00000299644:A91V	A	+	2	0	WWOX	77016406	0.801000	0.28930	1.000000	0.80357	0.871000	0.50021	-0.221000	0.09202	0.719000	0.32188	0.655000	0.94253	GCC		0.507	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			5	181	0	0	0	1	0	5	181				
PARK2	5071	broad.mit.edu	37	6	161781238	161781238	+	Splice_Site	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr6:161781238C>T	ENST00000366898.1	-	11	1270		c.e11-1		PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGTAGGCCTGGGGAAACA	0.507																																						ENST00000366898.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.e11-1		parkin RBR E3 ubiquitin protein ligase							105.0	103.0	103.0					6																	161781238		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161781238C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1168-1G>A	6.37:g.161781238C>T						PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site		NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	11	1270	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)						A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	37		CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112294	0.37242	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9985	0.71451	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	161701228	1.000000	0.71417	0.994000	0.49952	0.142000	0.21351	5.469000	0.66749	2.245000	0.73994	0.643000	0.83706	.		0.507	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Intron	5	116	0	0	0	1	0	5	116				
OMA1	115209	broad.mit.edu	37	1	58999969	58999969	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:58999969T>C	ENST00000371226.3	-	4	877	c.764A>G	c.(763-765)gAg>gGg	p.E255G	OMA1_ENST00000467063.1_5'UTR|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.E255G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	255					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GGCATCTTTCTCAGTTAGCAT	0.338																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(763-765)gAg>gGg		OMA1 zinc metallopeptidase							62.0	61.0	61.0					1																	58999969		2203	4300	6503	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58999969T>C	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.764A>G	1.37:g.58999969T>C	ENSP00000360270:p.Glu255Gly					OMA1_ENST00000358603.2_Missense_Mutation_p.E255G|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR	p.E255G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			4	877	-	all_cancers(7;6.54e-05)		255					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.764A>G	CCDS608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.85|13.85	2.359519|2.359519	0.41801|0.41801	.|.	.|.	ENSG00000162600|ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242|ENST00000421528	T;T;T;T|.	0.40756|.	2.36;2.35;1.72;1.02|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.178491|.	0.48767|.	D|.	0.000174|.	T|.	0.72819|.	0.3508|.	M|M	0.70595|0.70595	2.14|2.14	0.37105|0.37105	D|D	0.900089|0.900089	P;D|.	0.54047|.	0.931;0.964|.	P;P|.	0.48166|.	0.569;0.503|.	T|.	0.77498|.	-0.2565|.	10|.	0.38643|.	T|.	0.18|.	-16.2606|-16.2606	14.9819|14.9819	0.71316|0.71316	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	255;255|.	Q96E52;Q96E52-2|.	OMA1_HUMAN;.|.	G|W	255|96	ENSP00000351417:E255G;ENSP00000360270:E255G;ENSP00000395053:E255G;ENSP00000409589:E255G|.	ENSP00000351417:E255G|.	E|X	-|-	2|3	0|0	OMA1|OMA1	58772557|58772557	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.981000|0.981000	0.71138|0.71138	2.989000|2.989000	0.49393|0.49393	2.187000|2.187000	0.69744|0.69744	0.460000|0.460000	0.39030|0.39030	GAG|TGA		0.338	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		19	3	0	0	0	1	0	19	3				
HRNR	388697	broad.mit.edu	37	1	152187080	152187080	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:152187080C>A	ENST00000368801.2	-	3	7100	c.7025G>T	c.(7024-7026)gGt>gTt	p.G2342V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2342					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)			CTCGTGGTGACCAAATCCAGA	0.577																																						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.(7024-7026)gGt>gTt		hornerin							375.0	595.0	520.0					1																	152187080		2183	4297	6480	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187080C>A	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.7025G>T	1.37:g.152187080C>A	ENSP00000357791:p.Gly2342Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2342V	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7100	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2342					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.7025G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.814	0.334537	0.11013	.	.	ENSG00000197915	ENST00000368801	T	0.06849	3.25	3.18	2.24	0.28232	.	.	.	.	.	T	0.07143	0.0181	L	0.39020	1.185	0.09310	N	0.999999	D	0.69078	0.997	P	0.61397	0.888	T	0.22417	-1.0217	9	0.59425	D	0.04	.	9.0149	0.36164	0.0:0.8816:0.0:0.1184	.	2342	Q86YZ3	HORN_HUMAN	V	2342	ENSP00000357791:G2342V	ENSP00000357791:G2342V	G	-	2	0	HRNR	150453704	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.869000	0.27996	0.880000	0.35969	0.650000	0.86243	GGT		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		12	1126	1	0	0.000673444	1	0.000729564	12	1126				
PTK2B	2185	broad.mit.edu	37	8	27310644	27310644	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000346049.5_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1. {ECO:0000250}.|Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	AGTTCACAGGGCCCCCACAGA	0.542																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2560-2562)ggG>ggA		protein tyrosine kinase 2 beta							65.0	67.0	66.0					8																	27310644		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27310644G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2562G>A	8.37:g.27310644G>A						PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000346049.5_Silent_p.G854G	p.G854G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	33	3370	+		Ovarian(32;2.72e-05)	854			Interaction with TGFB1I1 (By similarity).|Pro-rich.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2562G>A	CCDS6057.1																																																																																				0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		39	58	0	0	0	1	0	39	58				
DOCK11	139818	broad.mit.edu	37	X	117752578	117752578	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:117752578C>A	ENST00000276202.7	+	31	3421	c.3358C>A	c.(3358-3360)Ctg>Atg	p.L1120M	DOCK11_ENST00000276204.6_Missense_Mutation_p.L1120M	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1120					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGTCTACTTCTGAGGGAAAC	0.333																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(3358-3360)Ctg>Atg		dedicator of cytokinesis 11							111.0	96.0	101.0					X																	117752578		2203	4299	6502	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117752578C>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3358C>A	X.37:g.117752578C>A	ENSP00000276202:p.Leu1120Met					DOCK11_ENST00000276202.7_Missense_Mutation_p.L1120M	p.L1120M			Q5JSL3	DOC11_HUMAN			31	3432	+			1120					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.3358C>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532483	0.64972	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	D;D	0.97303	-4.33;-4.33	5.68	3.92	0.45320	.	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.77712	2.385	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96949	0.9693	10	0.38643	T	0.18	-8.3181	11.7923	0.52075	0.0:0.8537:0.0:0.1463	.	1120;1120	A6NIW2;Q5JSL3	.;DOC11_HUMAN	M	1120	ENSP00000276204:L1120M;ENSP00000276202:L1120M	ENSP00000276202:L1120M	L	+	1	2	DOCK11	117636606	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.461000	0.53035	0.661000	0.30985	0.544000	0.68410	CTG		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		4	101	1	0	0.00909568	1	0.00945951	4	101				
ACSM5	54988	broad.mit.edu	37	16	20435257	20435257	+	Missense_Mutation	SNP	G	G	A	rs368337782		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:20435257G>A	ENST00000331849.4	+	6	934	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	263					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGCCTTGACCGAATCTGACAT	0.458																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(787-789)Gaa>Aaa		acyl-CoA synthetase medium-chain family member 5		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	195.0	183.0	187.0		787	1.4	0.1	16		187	0,8600		0,0,4300	no	missense	ACSM5	NM_017888.2	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	263/580	20435257	1,13005	2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20435257G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.787G>A	16.37:g.20435257G>A	ENSP00000327916:p.Glu263Lys						p.E263K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			6	934	+			263					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.787G>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	7.810	0.715544	0.15306	2.27E-4	0.0	ENSG00000183549	ENST00000331849	T	0.51817	0.69	4.56	1.35	0.21983	AMP-dependent synthetase/ligase (1);	0.985279	0.08272	N	0.971277	T	0.41143	0.1146	L	0.58669	1.825	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.35226	-0.9797	10	0.38643	T	0.18	-5.0599	4.7342	0.12979	0.3617:0.2533:0.385:0.0	.	263	Q6NUN0	ACSM5_HUMAN	K	263	ENSP00000327916:E263K	ENSP00000327916:E263K	E	+	1	0	ACSM5	20342758	0.001000	0.12720	0.095000	0.20976	0.286000	0.27126	0.541000	0.23207	0.482000	0.27582	-0.136000	0.14681	GAA		0.458	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		4	153	0	0	0	1	0	4	153				
CTAG2	30848	broad.mit.edu	37	X	153881577	153881577	+	Silent	SNP	C	C	T	rs140132753		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:153881577C>T	ENST00000247306.4	-	1	276	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTAG2_ENST00000369585.3_Silent_p.A71A	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	71	Gly-rich.					centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCATCCTGCGCAGAAGCGG	0.711																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(211-213)gcG>gcA		cancer/testis antigen 2		C	,	1,3819		0,1,1627,564	26.0	26.0	26.0		213,213	-3.8	0.0	X	dbSNP_134	26	1,6712		0,1,2423,1865	no	coding-synonymous,coding-synonymous	CTAG2	NM_020994.3,NM_172377.3	,	0,2,4050,2429	TT,TC,CC,C		0.0149,0.0262,0.019	,	71/211,71/181	153881577	2,10531	2192	4289	6481	SO:0001819	synonymous_variant	30848					centrosome		g.chrX:153881577C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.213G>A	X.37:g.153881577C>T						CTAG2_ENST00000369585.3_Silent_p.A71A	p.A71A	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			1	276	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		71			Gly-rich.		O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Silent	SNP	ENST00000247306.4	37	c.213G>A	CCDS14759.1																																																																																				0.711	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		19	57	0	0	0	1	0	19	57				
MSMO1	6307	broad.mit.edu	37	4	166263064	166263064	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:166263064A>G	ENST00000261507.6	+	6	1021	c.848A>G	c.(847-849)gAa>gGa	p.E283G	MSMO1_ENST00000393766.2_Missense_Mutation_p.E152G	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	283					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										GCCTATAATGAAAAGAGGAAG	0.343																																						ENST00000261507.6																			0											c.(847-849)gAa>gGa		methylsterol monooxygenase 1	NADH(DB00157)						67.0	70.0	69.0					4																	166263064		2203	4300	6503	SO:0001583	missense	6307				cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	g.chr4:166263064A>G	U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.848A>G	4.37:g.166263064A>G	ENSP00000261507:p.Glu283Gly					MSMO1_ENST00000393766.2_Missense_Mutation_p.E152G	p.E283G	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN			6	1021	+			283					A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	ENST00000261507.6	37	c.848A>G	CCDS3809.1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.433908	0.25813	.	.	ENSG00000052802	ENST00000261507;ENST00000393766	T;T	0.78364	-0.2;-1.17	6.06	4.89	0.63831	.	0.290828	0.39083	N	0.001467	T	0.67543	0.2904	L	0.36672	1.1	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.60419	-0.7267	10	0.26408	T	0.33	-10.2911	11.9234	0.52806	0.9328:0.0:0.0672:0.0	.	283	Q15800	MSMO1_HUMAN	G	283;152	ENSP00000261507:E283G;ENSP00000377361:E152G	ENSP00000261507:E283G	E	+	2	0	SC4MOL	166482514	1.000000	0.71417	0.992000	0.48379	0.136000	0.21042	4.915000	0.63355	1.126000	0.42016	0.533000	0.62120	GAA		0.343	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363880.1	NM_006745		24	27	0	0	0	1	0	24	27				
CLUH	23277	broad.mit.edu	37	17	2595751	2595751	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:2595751C>T	ENST00000570628.2	-	22	3452	c.3347G>A	c.(3346-3348)gGg>gAg	p.G1116E	CLUH_ENST00000538975.1_Missense_Mutation_p.G1116E|CLUH_ENST00000435359.1_Missense_Mutation_p.G1116E			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1116					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CTCCATCACCCCGTGCAGCAC	0.701																																						ENST00000570628.1																			0											c.(3346-3348)gGg>gAg		clustered mitochondria (cluA/CLU1) homolog							22.0	25.0	24.0					17																	2595751		2004	4165	6169	SO:0001583	missense	23277							g.chr17:2595751C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3347G>A	17.37:g.2595751C>T	ENSP00000458986:p.Gly1116Glu					CLUH_ENST00000435359.1_Missense_Mutation_p.G1116E|CLUH_ENST00000575014.1_Missense_Mutation_p.G1049E|CLUH_ENST00000538975.1_Missense_Mutation_p.G1116E	p.G1116E							22	3452	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.3347G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903299	0.92035	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.93307	-3.2;-3.2	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	L	0.44542	1.39	0.80722	D	1	P;D	0.60160	0.813;0.987	P;D	0.66497	0.714;0.944	D	0.90801	0.4694	10	0.08837	T	0.75	.	16.9919	0.86356	0.0:1.0:0.0:0.0	.	1116;1117	O75153;C9J6D7	K0664_HUMAN;.	E	1116;1117;1116	ENSP00000388872:G1116E;ENSP00000439628:G1116E	ENSP00000320468:G1117E	G	-	2	0	KIAA0664	2542501	1.000000	0.71417	0.637000	0.29366	0.938000	0.57974	7.651000	0.83577	2.494000	0.84150	0.561000	0.74099	GGG		0.701	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		11	51	0	0	0	1	0	11	51				
RNF17	56163	broad.mit.edu	37	13	25399896	25399896	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:25399896G>A	ENST00000255324.5	+	16	2283	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	744	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTTGGTACCGAGCAAAAGTT	0.378																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2230-2232)cGa>cAa		ring finger protein 17							102.0	98.0	99.0					13																	25399896		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25399896G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2231G>A	13.37:g.25399896G>A	ENSP00000255324:p.Arg744Gln					RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q	p.R744Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	16	2283	+		Lung SC(185;0.0225)|Breast(139;0.077)	744			Tudor 1.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2231G>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037652	0.75617	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	D;D;D	0.84298	-1.83;-1.83;-1.83	4.69	4.69	0.59074	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.311562	0.28560	N	0.014901	D	0.94411	0.8202	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.98;0.995	D	0.95866	0.8887	10	0.87932	D	0	.	14.9002	0.70672	0.0:0.0:1.0:0.0	.	744;744	B7Z7S1;Q9BXT8	.;RNF17_HUMAN	Q	744;744;603;68	ENSP00000255324:R744Q;ENSP00000371346:R744Q;ENSP00000388892:R68Q	ENSP00000255324:R744Q	R	+	2	0	RNF17	24297896	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	4.098000	0.57748	2.312000	0.78011	0.491000	0.48974	CGA		0.378	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		17	81	0	0	0	1	0	17	81				
B4GALNT3	283358	broad.mit.edu	37	12	657235	657235	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:657235G>C	ENST00000266383.5	+	8	766	c.753G>C	c.(751-753)caG>caC	p.Q251H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	251					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCACAAGCAGAATGAGGAGG	0.622																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(751-753)caG>caC		beta-1,4-N-acetyl-galactosaminyl transferase 3							67.0	61.0	63.0					12																	657235		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657235G>C	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.753G>C	12.37:g.657235G>C	ENSP00000266383:p.Gln251His					B4GALNT3_ENST00000544638.1_3'UTR	p.Q251H	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		8	766	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		251					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.753G>C	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719132	0.68844	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.21932	1.98;1.98	4.97	3.09	0.35607	PA14 (2);	0.178554	0.49916	D	0.000135	T	0.46833	0.1413	M	0.85630	2.765	0.43988	D	0.99668	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.50329	-0.8841	10	0.87932	D	0	-26.8968	9.5806	0.39486	0.2297:0.0:0.7703:0.0	.	153;251	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	251;153	ENSP00000266383:Q251H;ENSP00000322953:Q153H	ENSP00000266383:Q251H	Q	+	3	2	B4GALNT3	527496	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	2.475000	0.45162	1.034000	0.39945	0.561000	0.74099	CAG		0.622	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		20	29	0	0	0	1	0	20	29				
B4GALNT3	283358	broad.mit.edu	37	12	665815	665815	+	Silent	SNP	C	C	T	rs150429681	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:665815C>T	ENST00000266383.5	+	15	2176	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	721					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2161-2163)cgC>cgT		beta-1,4-N-acetyl-galactosaminyl transferase 3		C		4,4402	8.1+/-20.4	0,4,2199	64.0	63.0	63.0		2163	0.0	0.9	12	dbSNP_134	63	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	B4GALNT3	NM_173593.3		0,6,6497	TT,TC,CC		0.0233,0.0908,0.0461		721/999	665815	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:665815C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2163C>T	12.37:g.665815C>T							p.R721R	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		15	2176	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		721					Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.2163C>T	CCDS8504.1																																																																																				0.622	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		38	55	0	0	0	1	0	38	55				
APEH	327	broad.mit.edu	37	3	49723545	49723545	+	IGR	SNP	G	G	A	rs4052562		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr3:49723545G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.A366V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1096-1098)gCg>gTg		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723545		2196	4290	6486	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723545G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723545G>A						MST1_ENST00000383728.3_3'UTR	p.A366V	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1458	-			352					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1097C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	A	6.330	0.429012	0.11987	.	.	ENSG00000173531	ENST00000449682	T	0.61510	0.1	5.4	2.9	0.33743	.	0.872863	0.09498	N	0.793992	T	0.22322	0.0538	N	0.01048	-1.04	0.58432	D	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.34129	-0.9841	10	0.02654	T	1	.	6.4095	0.21682	0.7107:0.0:0.0698:0.2196	rs4052562	366	G3XAK1	.	V	366	ENSP00000414287:A366V	ENSP00000414287:A366V	A	-	2	0	MST1	49698549	1.000000	0.71417	0.233000	0.24025	0.897000	0.52465	4.372000	0.59530	0.016000	0.14998	-0.254000	0.11334	GCG		0.667	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	38	0	0	0	1	0	4	38				
NTRK1	4914	broad.mit.edu	37	1	156841489	156841489	+	Silent	SNP	G	G	A	rs201110800		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:156841489G>A	ENST00000524377.1	+	7	833	c.792G>A	c.(790-792)acG>acA	p.T264T	NTRK1_ENST00000358660.3_Silent_p.T264T|NTRK1_ENST00000368196.3_Silent_p.T264T|NTRK1_ENST00000392302.2_Silent_p.T234T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	264	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGAACGTGACGTGCTGGGCAG	0.592			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			G|||	1	0.000199681	0.0	0.0	5008	,	,		15797	0.001		0.0	False		,,,				2504	0.0					ENST00000368196.3				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	"""TPM3, TPR, TFG"""		papillary thyroid		0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(790-792)acG>acA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						100.0	84.0	90.0					1																	156841489		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156841489G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.792G>A	1.37:g.156841489G>A		TSP Lung(10;0.080)				NTRK1_ENST00000392302.2_Silent_p.T234T|NTRK1_ENST00000524377.1_Silent_p.T264T|NTRK1_ENST00000358660.3_Silent_p.T264T	p.T264T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN			7	912	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		264			Ig-like C2-type 1.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.792G>A	CCDS1161.1																																																																																				0.592	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	108	0	0	0	1	0	9	108				
ARR3	407	broad.mit.edu	37	X	69500075	69500075	+	Silent	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:69500075G>T	ENST00000307959.8	+	13	987	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ARR3_ENST00000374495.3_Silent_p.L312L|RAB41_ENST00000276066.4_5'Flank|RAB41_ENST00000374473.2_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	312					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AAGAGCTGCTGGGGATCCTGG	0.502																																						ENST00000374495.3																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						c.(934-936)ctG>ctT		arrestin 3, retinal (X-arrestin)							236.0	182.0	200.0					X																	69500075		2203	4300	6503	SO:0001819	synonymous_variant	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69500075G>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.936G>T	X.37:g.69500075G>T						ARR3_ENST00000307959.8_Silent_p.L312L	p.L312L			P36575	ARRC_HUMAN			13	1034	+			312					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	c.936G>T	CCDS14399.1																																																																																				0.502	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		51	79	1	0	2.84144e-21	1	3.28344e-21	51	79				
FASN	2194	broad.mit.edu	37	17	80051592	80051592	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:80051592G>A	ENST00000306749.2	-	4	554	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	112	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TCTCAGAGCCGCTCACGCCCA	0.657																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(334-336)agC>agT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						67.0	62.0	63.0					17																	80051592		2202	4296	6498	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80051592G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.336C>T	17.37:g.80051592G>A							p.S112S	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		4	554	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		112			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.336C>T	CCDS11801.1																																																																																				0.657	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		36	59	0	0	0	1	0	36	59				
CCDC27	148870	broad.mit.edu	37	1	3677958	3677958	+	Silent	SNP	C	C	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:3677958C>G	ENST00000294600.2	+	5	909	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	275										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCTGAAAGGCAAAGGCCAAG	0.567																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(823-825)ggC>ggG		coiled-coil domain containing 27							73.0	71.0	72.0					1																	3677958		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3677958C>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.825C>G	1.37:g.3677958C>G							p.G275G	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	5	909	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	275					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.825C>G	CCDS50.1																																																																																				0.567	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		4	53	0	0	0	1	0	4	53				
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:650531G>A	ENST00000319004.5	-	2	870	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000576778.1_Missense_Mutation_p.A240V	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(718-720)gCg>gTg		gem (nuclear organelle) associated protein 4							87.0	95.0	92.0					17																	650531		2176	4267	6443	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650531G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.752C>T	17.37:g.650531G>A	ENSP00000321706:p.Ala251Val					GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V|GEMIN4_ENST00000437269.1_Intron	p.A240V			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	2060	-		Myeloproliferative disorder(207;0.204)	251					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.719C>T	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667588	0.47677	.	.	ENSG00000179409	ENST00000319004	T	0.18174	2.23	5.5	5.5	0.81552	.	0.382752	0.28834	N	0.013998	T	0.34513	0.0900	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	P	0.59056	0.851	T	0.02214	-1.1194	10	0.18276	T	0.48	-12.6579	18.3807	0.90449	0.0:0.0:1.0:0.0	.	251	P57678	GEMI4_HUMAN	V	251	ENSP00000321706:A251V	ENSP00000321706:A251V	A	-	2	0	GEMIN4	597281	1.000000	0.71417	0.956000	0.39512	0.119000	0.20118	4.413000	0.59795	2.591000	0.87537	0.650000	0.86243	GCG		0.607	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	195	0	0	0	1	0	6	195				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	37	0	0	0	1	0	27	37				
BEGAIN	57596	broad.mit.edu	37	14	101005290	101005290	+	Silent	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:101005290C>T	ENST00000355173.2	-	7	869	c.798G>A	c.(796-798)gcG>gcA	p.A266A	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Silent_p.A202A|BEGAIN_ENST00000443071.2_Silent_p.A266A	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	266						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTCCTCGGCCGCGCTGTCAG	0.726																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(604-606)gcG>gcA		brain-enriched guanylate kinase-associated							11.0	15.0	14.0					14																	101005290		2187	4286	6473	SO:0001819	synonymous_variant	57596					cytoplasm|membrane	protein binding	g.chr14:101005290C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.798G>A	14.37:g.101005290C>T						BEGAIN_ENST00000443071.2_Silent_p.A266A|BEGAIN_ENST00000355173.2_Silent_p.A266A|CTD-2062F14.3_ENST00000553301.1_lincRNA	p.A202A			Q9BUH8	BEGIN_HUMAN			5	4010	-		Melanoma(154;0.212)	266					Q9NPU3|Q9P282	Silent	SNP	ENST00000355173.2	37	c.606G>A	CCDS9962.1																																																																																				0.726	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		11	27	0	0	0	1	0	11	27				
IL1RL1	9173	broad.mit.edu	37	2	102959762	102959762	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:102959762T>A	ENST00000233954.1	+	8	1128	c.857T>A	c.(856-858)gTt>gAt	p.V286D	IL1RL1_ENST00000311734.2_Missense_Mutation_p.V286D|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	286	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGACATGGTTTTAAGAATA	0.453																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(856-858)gTt>gAt		interleukin 1 receptor-like 1							187.0	173.0	178.0					2																	102959762		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102959762T>A	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.857T>A	2.37:g.102959762T>A	ENSP00000233954:p.Val286Asp					IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V286D|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D	p.V286D			Q01638	ILRL1_HUMAN			8	1196	+			286			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.857T>A	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371113	0.42003	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.14516	4.02;4.02;4.02;2.5	5.19	-0.299	0.12808	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.620140	0.03210	N	0.176119	T	0.21718	0.0523	L	0.57536	1.79	0.09310	N	1	P;P;P	0.51537	0.946;0.933;0.904	P;P;B	0.53062	0.717;0.595;0.446	T	0.16129	-1.0413	10	0.54805	T	0.06	.	1.0359	0.01548	0.3267:0.0925:0.1693:0.4114	.	169;286;286	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	D	286;169;286;272	ENSP00000233954:V286D;ENSP00000384822:V169D;ENSP00000310371:V286D;ENSP00000386618:V272D	ENSP00000233954:V286D	V	+	2	0	IL1RL1	102326194	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.302000	0.08221	0.371000	0.24564	0.477000	0.44152	GTT		0.453	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		45	130	0	0	0	1	0	45	130				
MUC5B	727897	broad.mit.edu	37	11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:1264405A>C	ENST00000529681.1	+	31	6353	c.6295A>C	c.(6295-6297)Acc>Ccc	p.T2099P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.T2102P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(6304-6306)Acc>Ccc		mucin 5B, oligomeric mucus/gel-forming							19.0	25.0	23.0					11																	1264405		1719	3860	5579	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264405A>C	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6295A>C	11.37:g.1264405A>C	ENSP00000436812:p.Thr2099Pro					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P	p.T2102P			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	6362	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2099	A -> P (in Ref. 4; CAA96577).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.6304A>C	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	a	5.942	0.357883	0.11239	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19938	2.11;2.28	2.33	-0.436	0.12275	.	.	.	.	.	T	0.32526	0.0832	M	0.68317	2.08	0.09310	N	1	D;D	0.69078	0.997;0.997	P;P	0.60789	0.879;0.879	T	0.16660	-1.0395	9	0.87932	D	0	.	2.7688	0.05328	0.5758:0.0:0.2337:0.1905	.	2792;2102	A7Y9J9;E9PBJ0	.;.	P	2099;2102;2100;2169	ENSP00000436812:T2099P;ENSP00000415793:T2102P	ENSP00000343037:T2100P	T	+	1	0	MUC5B	1220981	0.000000	0.05858	0.001000	0.08648	0.180000	0.23129	-0.417000	0.07088	-0.258000	0.09446	0.164000	0.16699	ACC		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		12	19	0	0	0	1	0	12	19				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	139	0	0	0	1	0	4	139				
DLG5	9231	broad.mit.edu	37	10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr10:79601943G>A	ENST00000372391.2	-	7	1138	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	DLG5_ENST00000372388.2_Missense_Mutation_p.A378V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	378					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGTGGATCGCCTCAAACCT	0.652																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1132-1134)gCg>gTg		discs, large homolog 5 (Drosophila)							72.0	71.0	72.0					10																	79601943		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79601943G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1133C>T	10.37:g.79601943G>A	ENSP00000361467:p.Ala378Val					DLG5_ENST00000372388.2_Missense_Mutation_p.A378V	p.A378V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		7	1138	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		378					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.1133C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402638	0.83230	.	.	ENSG00000151208	ENST00000372391;ENST00000372388	T;T	0.04360	3.64;3.64	5.71	5.71	0.89125	.	0.208186	0.24249	N	0.040191	T	0.03390	0.0098	N	0.08118	0	0.33538	D	0.594452	B;B	0.34061	0.436;0.229	B;B	0.24269	0.033;0.052	T	0.47275	-0.9130	10	0.33940	T	0.23	.	19.8534	0.96748	0.0:0.0:1.0:0.0	.	378;378	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	V	378	ENSP00000361467:A378V;ENSP00000361464:A378V	ENSP00000361464:A378V	A	-	2	0	DLG5	79271949	1.000000	0.71417	0.960000	0.40013	0.826000	0.46750	6.292000	0.72725	2.711000	0.92665	0.563000	0.77884	GCG		0.652	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			53	60	0	0	0	1	0	53	60				
ZNF587	84914	broad.mit.edu	37	19	58370971	58370971	+	Missense_Mutation	SNP	C	C	A	rs201126888		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:58370971C>A	ENST00000339656.5	+	3	1373	c.1191C>A	c.(1189-1191)caC>caA	p.H397Q	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H354Q|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF587_ENST00000423137.1_Missense_Mutation_p.H396Q	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ACCTCGTTCACCATCAGCGAG	0.463																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(1189-1191)caC>caA		zinc finger protein 587							181.0	170.0	174.0					19																	58370971		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370971C>A	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.1191C>A	19.37:g.58370971C>A	ENSP00000345479:p.His397Gln					ZNF587_ENST00000423137.1_Missense_Mutation_p.H396Q|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.H354Q|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	p.H397Q	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	1373	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	397					A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.1191C>A	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.784180	0.00079	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.17054	2.3;2.3;2.3	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.00661	-1.28	0.21064	N	0.999796	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36359	-0.9751	8	0.02654	T	1	.	5.6124	0.17412	0.2839:0.187:0.5291:0.0	.	396;397	G3V0H5;Q96SQ5	.;ZN587_HUMAN	Q	354;396;397;397;354	ENSP00000393865:H396Q;ENSP00000345479:H397Q;ENSP00000406999:H354Q	ENSP00000345479:H397Q	H	+	3	2	ZNF587	63062783	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	-5.616000	0.00109	-1.444000	0.01950	-1.206000	0.01644	CAC		0.463	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		4	126	1	0	0.000602214	1	0.00066628	4	126				
CHRND	1144	broad.mit.edu	37	2	233393356	233393356	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:233393356C>T	ENST00000258385.3	+	5	531	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	CHRND_ENST00000536614.1_Missense_Mutation_p.L167F|CHRND_ENST00000457943.2_Silent_p.P76P|CHRND_ENST00000543200.1_Missense_Mutation_p.L152F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	167					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GAACTGCTCCCTCAAGTTCAG	0.592																																						ENST00000258385.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(499-501)Ctc>Ttc		cholinergic receptor, nicotinic, delta (muscle)							124.0	110.0	115.0					2																	233393356		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393356C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.499C>T	2.37:g.233393356C>T	ENSP00000258385:p.Leu167Phe					CHRND_ENST00000536614.1_Missense_Mutation_p.L167F|CHRND_ENST00000543200.1_Missense_Mutation_p.L152F|CHRND_ENST00000457943.2_Silent_p.P76P	p.L167F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	531	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	167					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.499C>T	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252582	0.59212	.	.	ENSG00000135902	ENST00000449596;ENST00000543200;ENST00000258385;ENST00000536614	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.46	4.46	0.54185	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.89206	0.6649	M	0.81614	2.55	0.80722	D	1	D;D	0.61697	0.99;0.987	D;D	0.67382	0.938;0.951	D	0.89586	0.3824	10	0.87932	D	0	.	8.699	0.34314	0.0:0.8317:0.0:0.1683	.	152;167	B4DT92;Q07001	.;ACHD_HUMAN	F	152;152;167;167	ENSP00000404950:L152F;ENSP00000438380:L152F;ENSP00000258385:L167F;ENSP00000437740:L167F	ENSP00000258385:L167F	L	+	1	0	CHRND	233101600	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.190000	0.32126	2.494000	0.84150	0.561000	0.74099	CTC		0.592	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			4	110	0	0	0	1	0	4	110				
POLR3K	51728	broad.mit.edu	37	16	97470	97470	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:97470T>C	ENST00000293860.5	-	3	328	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	96					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATTGCAGCACTTGTAGAAGGT	0.557																																						ENST00000293860.5																			0				central_nervous_system(1)|large_intestine(1)|skin(1)	3						c.(286-288)aAg>aGg		polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa							106.0	89.0	95.0					16																	97470		2203	4300	6503	SO:0001583	missense	51728				innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr16:97470T>C	AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"""RNA polymerase subunits"""	14121	protein-coding gene	gene with protein product		606007	"""polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"""			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.287A>G	16.37:g.97470T>C	ENSP00000293860:p.Lys96Arg						p.K96R	NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN			3	328	-		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	96					Q1W6H4|Q96S35	Missense_Mutation	SNP	ENST00000293860.5	37	c.287A>G	CCDS10395.1	.	.	.	.	.	.	.	.	.	.	.	16.45	3.126404	0.56721	.	.	ENSG00000161980	ENST00000293860	T	0.46063	0.88	4.59	4.59	0.56863	Zinc finger, TFIIS-type (4);	0.043867	0.85682	D	0.000000	T	0.30823	0.0777	L	0.28344	0.845	0.58432	D	0.999999	B	0.16396	0.017	B	0.18263	0.021	T	0.07654	-1.0761	10	0.33141	T	0.24	-32.3182	13.2266	0.59919	0.0:0.0:0.0:1.0	.	96	Q9Y2Y1	RPC10_HUMAN	R	96	ENSP00000293860:K96R	ENSP00000293860:K96R	K	-	2	0	POLR3K	37470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.697000	0.74603	1.862000	0.54008	0.369000	0.22263	AAG		0.557	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134192.1	NM_016310		44	61	0	0	0	1	0	44	61				
TAF1	6872	broad.mit.edu	37	X	70679529	70679529	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:70679529G>T	ENST00000373790.4	+	36	5240	c.5189G>T	c.(5188-5190)aGt>aTt	p.S1730I	TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I|TAF1_ENST00000449580.1_Missense_Mutation_p.S1764I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000461764.1_3'UTR	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1730	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGCTGGGAGTGATGAAGAA	0.468																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(5290-5292)aGt>aTt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							268.0	196.0	220.0					X																	70679529		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70679529G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5189G>T	X.37:g.70679529G>T	ENSP00000362895:p.Ser1730Ile					TAF1_ENST00000373790.4_Missense_Mutation_p.S1730I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I	p.S1764I			P21675	TAF1_HUMAN			37	5342	+	Renal(35;0.156)	all_lung(315;0.000321)	1730			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.5291G>T	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.73|19.73	3.882635|3.882635	0.72410|0.72410	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.12361|.	2.69;2.87;2.75;2.69|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59528|0.59528	0.2200|0.2200	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.71674|.	0.998;0.997;0.99;0.994|.	D;D;D;D|.	0.80764|.	0.994;0.994;0.962;0.983|.	T|T	0.56420|0.56420	-0.7982|-0.7982	10|5	0.44086|.	T|.	0.13|.	.|.	17.1356|17.1356	0.86738|0.86738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	420;1764;1730;1751|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	I|L	1730;1764;1753;472;1751|419	ENSP00000362895:S1730I;ENSP00000389000:S1764I;ENSP00000406549:S1753I;ENSP00000276072:S1751I|.	ENSP00000276072:S1751I|.	S|V	+|+	2|1	0|0	TAF1|TAF1	70596254|70596254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.955000|8.955000	0.93058|0.93058	2.224000|2.224000	0.72417|0.72417	0.529000|0.529000	0.55759|0.55759	AGT|GTG		0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		5	124	1	0	0.00116845	1	0.00123998	5	124				
EYA2	2139	broad.mit.edu	37	20	45644820	45644820	+	Splice_Site	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:45644820G>A	ENST00000327619.5	+	5	673	c.299G>A	c.(298-300)aGc>aAc	p.S100N	EYA2_ENST00000357410.3_Splice_Site_p.S100N|EYA2_ENST00000317304.6_Splice_Site_p.S100N	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	100					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCCTTCAAAGGCATCAAGACA	0.507																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.e5-1		eyes absent homolog 2 (Drosophila)							170.0	160.0	163.0					20																	45644820		2203	4300	6503	SO:0001630	splice_region_variant	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45644820G>A		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.299-1G>A	20.37:g.45644820G>A						EYA2_ENST00000317304.6_Splice_Site_p.S100_splice|EYA2_ENST00000357410.3_Splice_Site_p.S100_splice	p.S100_splice	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			5	673	+		Myeloproliferative disorder(115;0.0241)	100					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Splice_Site	SNP	ENST00000327619.5	37	c.298_splice	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041126	0.55003	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91631	-2.88;-2.47;-2.8;-0.64	5.82	5.82	0.92795	.	0.138463	0.64402	D	0.000004	D	0.86543	0.5958	N	0.22421	0.69	0.58432	D	0.999997	P;B;B;B	0.37663	0.604;0.041;0.052;0.013	B;B;B;B	0.34991	0.193;0.016;0.015;0.015	D	0.84806	0.0787	9	.	.	.	.	18.8705	0.92311	0.0:0.0:1.0:0.0	.	100;100;100;100	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	N	100;100;100;100;53	ENSP00000333640:S100N;ENSP00000349986:S100N;ENSP00000321590:S100N;ENSP00000395427:S53N	.	S	+	2	0	EYA2	45078227	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.572000	0.67411	2.752000	0.94435	0.655000	0.94253	AGC		0.507	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	Missense_Mutation	6	156	0	0	0	1	0	6	156				
IGHA2	3494	broad.mit.edu	37	14	106053406	106053406	+	RNA	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:106053406G>T	ENST00000390539.2	-	0	890				AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										TGCAGGAGAAGGTCTCCCCCT	0.622																																						ENST00000390539.2																			0																				32.0	7.0	28.0					14																	106053406		1761	394	2155			0							g.chr14:106053406G>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106053406G>T														0	890	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.622	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		3	34	1	0	0.00024832	1	0.00028071	3	34				
APEH	327	broad.mit.edu	37	3	49723542	49723542	+	IGR	SNP	G	G	C	rs2087732		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr3:49723542G>C	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.A367G	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAGCAAAAGGCCGCGCGCAT	0.672																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1099-1101)gCc>gGc		macrophage stimulating 1 (hepatocyte growth factor-like)							13.0	16.0	15.0					3																	49723542		2194	4290	6484	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723542G>C	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723542G>C						MST1_ENST00000383728.3_3'UTR	p.A367G	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1461	-			353					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1100C>G	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511278	0.44660	.	.	ENSG00000173531	ENST00000449682	T	0.61980	0.06	5.4	5.4	0.78164	.	0.000000	0.42172	D	0.000758	T	0.49508	0.1561	N	0.14661	0.345	0.80722	D	1	B	0.24368	0.102	B	0.33254	0.16	T	0.42699	-0.9436	10	0.12103	T	0.63	.	18.7813	0.91933	0.0:0.0:1.0:0.0	rs2087732;rs4052587	367	G3XAK1	.	G	367	ENSP00000414287:A367G	ENSP00000414287:A367G	A	-	2	0	MST1	49698546	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	6.615000	0.74201	2.526000	0.85167	0.655000	0.94253	GCC		0.672	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	43	0	0	0	1	0	3	43				
SLC19A3	80704	broad.mit.edu	37	2	228560683	228560683	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:228560683T>A	ENST00000258403.3	-	4	1165	c.1094A>T	c.(1093-1095)tAc>tTc	p.Y365F	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	365					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(1093-1095)tAc>tTc		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						82.0	91.0	88.0					2																	228560683		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560683T>A	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1094A>T	2.37:g.228560683T>A	ENSP00000258403:p.Tyr365Phe					SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361F|SLC19A3_ENST00000409287.1_Intron	p.Y365F	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1165	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	365						Missense_Mutation	SNP	ENST00000258403.3	37	c.1094A>T	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	2.076	-0.411908	0.04799	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.79033	-1.23;-1.23	5.03	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.104953	0.64402	D	0.000003	T	0.56891	0.2016	N	0.13272	0.32	0.19300	N	0.999975	B;B	0.12630	0.006;0.001	B;B	0.14023	0.01;0.006	T	0.32719	-0.9896	10	0.09843	T	0.71	-6.9152	10.2409	0.43312	0.2384:0.0:0.0:0.7616	.	361;365	F5H2M8;Q9BZV2	.;S19A3_HUMAN	F	365;361	ENSP00000258403:Y365F;ENSP00000445519:Y361F	ENSP00000258403:Y365F	Y	-	2	0	SLC19A3	228268927	1.000000	0.71417	0.995000	0.50966	0.682000	0.39822	3.277000	0.51654	2.111000	0.64477	0.533000	0.62120	TAC		0.443	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			4	121	0	0	0	1	0	4	121				
OTOGL	283310	broad.mit.edu	37	12	80770981	80770981	+	Splice_Site	SNP	C	C	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:80770981C>A	ENST00000547103.1	+	57	6803	c.6797C>A	c.(6796-6798)cCt>cAt	p.P2266H	OTOGL_ENST00000458043.2_Splice_Site_p.P2278H|OTOGL_ENST00000546620.1_Splice_Site_p.P297H			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2266	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCCAAAGCCCTGTAAGTGGA	0.353																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.e57+1		otogelin-like							74.0	76.0	75.0					12																	80770981		2203	4299	6502	SO:0001630	splice_region_variant	283310							g.chr12:80770981C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6798+1C>A	12.37:g.80770981C>A						OTOGL_ENST00000546620.1_Splice_Site_p.P297_splice|OTOGL_ENST00000547103.1_Splice_Site_p.P2266_splice	p.P2278_splice	NM_173591.3	NP_775862.3					57	6839	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Splice_Site	SNP	ENST00000547103.1	37	c.6834_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.498181|2.498181	0.44455|0.44455	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043;ENST00000546620	.|T;T;T	.|0.19669	.|2.22;2.21;2.13	5.48|5.48	4.6|4.6	0.57074|0.57074	.|Cystine knot, C-terminal (2);	.|0.198864	.|0.42682	.|D	.|0.000669	T|T	0.38054|0.38054	0.1026|0.1026	M|M	0.69823|0.69823	2.125|2.125	0.27696|0.27696	N|N	0.945941|0.945941	.|P	.|0.48764	.|0.915	.|P	.|0.53062	.|0.717	T|T	0.29366|0.29366	-1.0014|-1.0014	5|10	.|0.56958	.|D	.|0.05	.|.	14.876|14.876	0.70493|0.70493	0.0:0.9306:0.0:0.0694|0.0:0.9306:0.0:0.0694	.|.	.|643	.|Q3ZCN5	.|OTOGL_HUMAN	I|H	686|2266;2278;297	.|ENSP00000447211:P2266H;ENSP00000400895:P2278H;ENSP00000449094:P297H	.|ENSP00000400895:P2278H	L|P	+|+	1|2	2|0	OTOGL|OTOGL	79295112|79295112	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.026000|0.026000	0.11368|0.11368	4.078000|4.078000	0.57606|0.57606	1.461000|1.461000	0.47929|0.47929	-0.194000|-0.194000	0.12790|0.12790	CTA|CCT		0.353	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591	Missense_Mutation	3	38	1	0	1	1	1	3	38				
GGT3P	2679	broad.mit.edu	37	22	18778603	18778603	+	RNA	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr22:18778603C>T	ENST00000412448.1	-	0	802							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TTGGCATCCGCGGCCACGGCA	0.627																																						ENST00000412448.1																			0																																																			0							g.chr22:18778603C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778603C>T														0	802	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.627	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	26	0	0	0	1	0	3	26				
RANBP2	5903	broad.mit.edu	37	2	109365585	109365585	+	Splice_Site	SNP	G	G	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:109365585G>T	ENST00000283195.6	+	9	1399	c.1273G>T	c.(1273-1275)Ggt>Tgt	p.G425C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	425					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G425C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATACGATGTTGGTAAGTTATA	0.343																																						ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - Missense(2)	p.G425C(2)	lung(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e9+1		RAN binding protein 2							134.0	142.0	139.0					2																	109365585		2203	4300	6503	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365585G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1273+1G>T	2.37:g.109365585G>T							p.G425_splice	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1399	+			425					Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.1273_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760250	0.69763	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.84516	-1.86	5.4	5.4	0.78164	.	.	.	.	.	D	0.91683	0.7371	M	0.62723	1.935	0.47214	D	0.999351	D	0.89917	1.0	D	0.97110	1.0	D	0.91956	0.5575	9	0.72032	D	0.01	-26.4724	19.5298	0.95223	0.0:0.0:1.0:0.0	.	425	P49792	RBP2_HUMAN	C	425	ENSP00000283195:G425C	ENSP00000283195:G425C	G	+	1	0	RANBP2	108732017	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.505000	0.81655	2.678000	0.91216	0.557000	0.71058	GGT		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	4	191	1	0	0.014758	1	0.0150474	4	191				
PCSK5	5125	broad.mit.edu	37	9	78790119	78790119	+	Intron	SNP	A	A	G			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:78790119A>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Silent_p.R658R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGAgaacagaatggaatgga	0.443																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1972-1974)agA>agG		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790119A>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+74A>G	9.37:g.78790119A>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.R658R			Q92824	PCSK5_HUMAN			14	2486	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.1974A>G	CCDS55320.1																																																																																				0.443	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	22	0	0	0	1	0	15	22				
TFCP2L1	29842	broad.mit.edu	37	2	122005806	122005806	+	Silent	SNP	G	G	A			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:122005806G>A	ENST00000263707.5	-	5	535	c.438C>T	c.(436-438)agC>agT	p.S146S		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	146					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTGGGTCGGGCTGGCCCTGG	0.527																																						ENST00000263707.5																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22						c.(436-438)agC>agT		transcription factor CP2-like 1							59.0	55.0	56.0					2																	122005806		2203	4300	6503	SO:0001819	synonymous_variant	29842				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:122005806G>A	AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.438C>T	2.37:g.122005806G>A							p.S146S	NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN			5	535	-	Renal(3;0.01)		146					Q4ZG43	Silent	SNP	ENST00000263707.5	37	c.438C>T	CCDS2134.1																																																																																				0.527	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338539.1	NM_014553		3	35	0	0	0	1	0	3	35				
OR1S2	219958	broad.mit.edu	37	11	57970843	57970843	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:57970843C>T	ENST00000302592.6	-	1	810	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAAAAGTACACGCCTACAGTG	0.498																																						ENST00000302592.6																			0				endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46						c.(811-813)Gtg>Atg		olfactory receptor, family 1, subfamily S, member 2							159.0	135.0	143.0					11																	57970843		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970843C>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.811G>A	11.37:g.57970843C>T	ENSP00000305469:p.Val271Met						p.V271M	NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN			1	810	-		Breast(21;0.0589)	271					Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.811G>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	8.980	0.975057	0.18736	.	.	ENSG00000197887	ENST00000302592	T	0.00051	8.81	4.75	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.189725	0.26369	N	0.024766	T	0.00241	0.0007	L	0.31578	0.945	0.09310	N	1	D	0.69078	0.997	D	0.67548	0.952	T	0.57522	-0.7797	10	0.72032	D	0.01	.	9.3599	0.38190	0.1632:0.6793:0.1576:0.0	.	271	Q8NGQ3	OR1S2_HUMAN	M	271	ENSP00000305469:V271M	ENSP00000305469:V271M	V	-	1	0	OR1S2	57727419	0.000000	0.05858	0.189000	0.23252	0.078000	0.17371	0.210000	0.17455	1.331000	0.45412	0.655000	0.94253	GTG		0.498	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		4	94	0	0	0	1	0	4	94				
BAGE2	85319	broad.mit.edu	37	21	11058183	11058183	+	RNA	SNP	G	G	A	rs542191279	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr21:11058183G>A	ENST00000470054.1	-	0	464							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGGTCAATGTGTTCTGGAC	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							97.0	78.0	84.0					21																	11058183		692	1591	2283			85319							g.chr21:11058183G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058183G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	464	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	91	0	0	0	1	0	4	91				
NR3C2	4306	broad.mit.edu	37	4	149075976	149075976	+	Silent	SNP	T	T	G	rs544520355	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:149075976T>G	ENST00000358102.3	-	5	2453	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_ENST00000355292.3_Silent_p.P701P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2101-2103)ccA>ccC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						14.0	17.0	16.0					4																	149075976		2200	4293	6493	SO:0001819	synonymous_variant	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075976T>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2091A>C	4.37:g.149075976T>G						NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000344721.4_Silent_p.P697P	p.P701P			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2465	-	all_hematologic(180;0.151)		697			Hinge.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2103A>C	CCDS3772.1																																																																																				0.527	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	14	0	0	0	1	0	4	14				
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						0					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		5	5						5	5	---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102948108	102948109	+	Frame_Shift_Del	DEL	AA	AA	-	rs141254128		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:102948108_102948109delAA	ENST00000249269.4	+	7	840_841	c.802_803delAA	c.(802-804)aaafs	p.K268fs	PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs|PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	268					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCACACACAAAGGAGAAATA	0.396																																						ENST00000249269.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(802-804)afs		peptidase (mitochondrial processing) beta																																				SO:0001589	frameshift_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102948108_102948109delAA	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.802_803delAA	7.37:g.102948108_102948109delAA	ENSP00000249269:p.Lys268fs					PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs|PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs	p.K268fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN			7	840_841	+			268					O60416|Q96FV4	Frame_Shift_Del	DEL	ENST00000249269.4	37	c.802_803delAA	CCDS5730.1																																																																																				0.396	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279		10	41						10	41	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		3	5						3	5	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	43						8	43	---	---	---	---
IGF2	3481	broad.mit.edu	37	11	2154242	2154242	+	Frame_Shift_Del	DEL	G	G	-	rs1050342		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:2154242delG	ENST00000416167.2	-	4	1684	c.518delC	c.(517-519)ccafs	p.P173fs	IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs			P01344	IGF2_HUMAN	insulin-like growth factor 2	173			P -> Q (in dbSNP:rs1050342).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGCCATCTCTGGGGGGGCGCC	0.657																																						ENST00000416167.2																			0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(517-519)cafs		insulin-like growth factor 2 (somatomedin A)							57.0	74.0	68.0					11																	2154242		2200	4296	6496	SO:0001589	frameshift_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154242delG	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.518delC	11.37:g.2154242delG	ENSP00000414497:p.Pro173fs					IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000337883.6_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs	p.P173fs			P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1684	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	173		P -> Q (in dbSNP:rs1050342).			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Frame_Shift_Del	DEL	ENST00000416167.2	37	c.518delC	CCDS7728.1																																																																																				0.657	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	NM_000612		7	298						7	298	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52803642	52803643	+	RNA	DEL	TT	TT	-	rs374208420|rs201626119		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:52803642_52803643delTT	ENST00000451298.1	-	0	938				TPTE2P2_ENST00000606973.1_RNA																							CAGTTTTCCCTTTTTTTTTTTT	0.332																																						ENST00000451298.1																			0																																																			0							g.chr13:52803642_52803643delTT																													13.37:g.52803652_52803653delTT						RP11-64P12.8_ENST00000606031.1_RNA								0	938	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.332	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42791207	42791208	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42791207_42791208delAG	ENST00000575354.2	+	3	307_308	c.267_268delAG	c.(265-270)acagggfs	p.G90fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.G999fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.G90fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	90	Pro-rich.				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)				CAGGTGGGACAGGGAGTGCTGA	0.649			"""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.(2992-2997)acggfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791207_42791208delAG	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.267_268delAG	19.37:g.42791207_42791208delAG	ENSP00000458663:p.Gly90fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.TG89fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.TG89fs	p.TG998fs			Q96RK0	CIC_HUMAN			4	3062_3063	+		Prostate(69;0.00682)	89			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.2994_2995delAG	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	102						8	102	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42793215_42793218delCAGT	ENST00000575354.2	+	7	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.DS369fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.DS1278fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369					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)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"""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.(3832-3837)gafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793215_42793218delCAGT	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.1107_1110delCAGT	19.37:g.42793215_42793218delCAGT	ENSP00000458663:p.Asp369fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs	p.DS1278fs			Q96RK0	CIC_HUMAN			8	3902_3905	+		Prostate(69;0.00682)	369			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.3834_3837delCAGT	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			28	59						28	59	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42796554	42796555	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42796554_42796555delTG	ENST00000575354.2	+	13	3151_3152	c.3111_3112delTG	c.(3109-3114)tctgtafs	p.V1038fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1947fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1038fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1038	Pro-rich.				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)				CCACGAGCTCTGTAGCTCTAGG	0.703			"""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.(5836-5841)tctafs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42796554_42796555delTG	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.3111_3112delTG	19.37:g.42796554_42796555delTG	ENSP00000458663:p.Val1038fs					CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1037fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1037fs	p.SV1946fs			Q96RK0	CIC_HUMAN			14	5906_5907	+		Prostate(69;0.00682)	1037					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5838_5839delTG	CCDS12601.1																																																																																				0.703	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			11	46						11	46	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33583356	33583358	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:33583356_33583358delAGG	ENST00000262873.7	+	26	3136_3138	c.3044_3046delAGG	c.(3043-3048)aaggag>aag	p.E1016del		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	974						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAAGCTGAGAAGGAGAAGCAAGC	0.645																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3043-3048)aag>a		myosin, heavy chain 7B, cardiac muscle, beta																																				SO:0001651	inframe_deletion	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33583356_33583358delAGG	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3044_3046delAGG	20.37:g.33583356_33583358delAGG	ENSP00000262873:p.Glu1016del						p.KE1015del	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		26	3136_3138	+			973					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	In_Frame_Del	DEL	ENST00000262873.7	37	c.3044_3046delAGG	CCDS42869.1																																																																																				0.645	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		19	29						19	29	---	---	---	---
CECR7	100130418	broad.mit.edu	37	22	17528433	17528434	+	lincRNA	INS	-	-	TT	rs532305349	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr22:17528433_17528434insTT	ENST00000441006.1	+	0	1006					NR_015352.1				cat eye syndrome chromosome region, candidate 7 (non-protein coding)																		ACAGTAGTGGCTTTTTTTTCTG	0.446														47	0.00938498	0.0023	0.0187	5008	,	,		19222	0.0		0.0288	False		,,,				2504	0.002					ENST00000441006.1																			0																																																			0							g.chr22:17528433_17528434insTT	BC043198		22q11.2	2012-10-16	2009-08-21		ENSG00000237438	ENSG00000237438		"""Long non-coding RNAs"""	1845	non-coding RNA	RNA, long non-coding			"""cat eye syndrome chromosome region, candidate 7"""			11381032	Standard	NR_015352		Approved	SAHL1	uc002zlx.1		OTTHUMG00000150027		22.37:g.17528440_17528441dupTT								NR_015352.1						0	1006	+									RNA	INS	ENST00000441006.1	37																																																																																						0.446	CECR7-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000315626.1	NR_015352		6	1						6	1	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		7	193						7	193	---	---	---	---
