#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
NOTCH1	4851	broad.mit.edu	37	9	139412359	139412359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:139412359C>T	ENST00000277541.6	-	8	1361	c.1286G>A	c.(1285-1287)tGc>tAc	p.C429Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	429	EGF-like 11; 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)			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)		CGTGTTGATGCACTTGCCCGC	0.662			"""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		0				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.(1285-1287)tGc>tAc		notch 1							41.0	46.0	45.0					9																	139412359		2196	4286	6482	SO:0001583	missense	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.chr9:139412359C>T	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.1286G>A	9.37:g.139412359C>T	ENSP00000277541:p.Cys429Tyr	HNSCC(8;0.001)					p.C429Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1361	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	429			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1286G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451155	0.84209	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96625	0.9462	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	429	P46531	NOTC1_HUMAN	Y	429	ENSP00000277541:C429Y	ENSP00000277541:C429Y	C	-	2	0	NOTCH1	138532180	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.645000	0.83430	2.088000	0.63022	0.462000	0.41574	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		38	37	0	0	0	0.086207	0	38	37				
ANKRD17	26057	broad.mit.edu	37	4	73984419	73984419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:73984419C>G	ENST00000358602.4	-	22	4290	c.4174G>C	c.(4174-4176)Gca>Cca	p.A1392P	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1392					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAATGCTGCCATAAGAGGA	0.423																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4174-4176)Gca>Cca		ankyrin repeat domain 17							188.0	170.0	176.0					4																	73984419		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73984419C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4174G>C	4.37:g.73984419C>G	ENSP00000351416:p.Ala1392Pro					ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P	p.A1392P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	4290	-	Breast(15;0.000295)		1392					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4174G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038667	0.75617	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.66280	-0.2;-0.2;-0.2	5.56	5.56	0.83823	Ankyrin repeat-containing domain (4);	0.207467	0.33732	N	0.004614	T	0.78451	0.4285	M	0.82193	2.58	0.46203	D	0.998928	D;D;D;D;P	0.58970	0.979;0.981;0.981;0.984;0.939	P;P;P;P;P	0.62740	0.906;0.804;0.804;0.876;0.602	T	0.79860	-0.1625	10	0.49607	T	0.09	.	14.3842	0.66931	0.1478:0.8522:0.0:0.0	.	913;1391;1141;1392;1279	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	P	1392;1141;1279	ENSP00000351416:A1392P;ENSP00000332265:A1141P;ENSP00000427151:A1279P	ENSP00000332265:A1141P	A	-	1	0	ANKRD17	74203283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.901000	0.63259	2.611000	0.88343	0.655000	0.94253	GCA		0.423	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		47	19	0	0	0	0.139131	0	47	19				
JAK1	3716	broad.mit.edu	37	1	65301898	65301898	+	Splice_Site	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:65301898C>T	ENST00000342505.4	-	23	3389	c.3141G>A	c.(3139-3141)tgG>tgA	p.W1047*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1047	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CTGGAGCATACCTTGAAAGGA	0.403			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e23-1		Janus kinase 1							73.0	70.0	71.0					1																	65301898		1872	4110	5982	SO:0001630	splice_region_variant	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65301898C>T	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.3141-1G>A	1.37:g.65301898C>T							p.W1047_splice	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	23	3389	-			1047			Protein kinase 2.		Q59GQ2|Q9UD26	Splice_Site	SNP	ENST00000342505.4	37	c.3140_splice	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	42	9.803293	0.99268	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5321	0.90996	0.0:1.0:0.0:0.0	.	.	.	.	X	1047	.	ENSP00000343204:W1047X	W	-	3	0	JAK1	65074486	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.131000	0.77243	2.597000	0.87782	0.655000	0.94253	TGG		0.403	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	Nonsense_Mutation	15	6	0	0	0	0.033300	0	15	6				
CFAP61	26074	broad.mit.edu	37	20	20177278	20177278	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:20177278G>A	ENST00000245957.5	+	16	1731	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		552										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CACCACCAGCGCGAAGAACAC	0.463																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(1654-1656)cGc>cAc		chromosome 20 open reading frame 26							152.0	125.0	134.0					20																	20177278		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177278G>A																												ENST00000245957.5:c.1655G>A	20.37:g.20177278G>A	ENSP00000245957:p.Arg552His					C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	p.R552H	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1731	+			552					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1655G>A	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.149113|4.149113	0.78001|0.78001	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.14893	.|2.47	5.83|5.83	4.87|4.87	0.63330|0.63330	.|.	.|0.256396	.|0.30676	.|N	.|0.009111	T|T	0.30572|0.30572	0.0769|0.0769	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.992	.|D;P	.|0.63957	.|0.92;0.695	T|T	0.02208|0.02208	-1.1195|-1.1195	5|10	.|0.38643	.|T	.|0.18	.|.	8.9392|8.9392	0.35720|0.35720	0.2155:0.0:0.7845:0.0|0.2155:0.0:0.7845:0.0	.|.	.|532;552	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	T|H	92|492;120;532;552	.|ENSP00000245957:R552H	.|ENSP00000245957:R552H	A|R	+|+	1|2	0|0	C20orf26|C20orf26	20125278|20125278	0.685000|0.685000	0.27652|0.27652	0.905000|0.905000	0.35620|0.35620	0.985000|0.985000	0.73830|0.73830	1.044000|1.044000	0.30329|0.30329	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.463	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			42	80	0	0	0	0.104719	0	42	80				
NRCAM	4897	broad.mit.edu	37	7	107831704	107831704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107831704C>T	ENST00000425651.2	-	16	1926	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000379028.3_Missense_Mutation_p.V643I	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCGTAAACGGGAGCTGGA	0.318																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1927-1929)Gtt>Att		neuronal cell adhesion molecule							58.0	59.0	59.0					7																	107831704		1824	4080	5904	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107831704C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1927G>A	7.37:g.107831704C>T	ENSP00000401244:p.Val643Ile					NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I	p.V643I			Q92823	NRCAM_HUMAN			19	2397	-			643					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1927G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006490	0.07773	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T	0.62639	0.01;0.32;0.1;0.01;0.03	5.87	3.55	0.40652	Fibronectin, type III (1);	0.534254	0.19684	N	0.108434	T	0.28300	0.0699	N	0.02391	-0.57	0.25951	N	0.98275	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.16070	-1.0415	10	0.11794	T	0.64	.	4.3686	0.11237	0.1427:0.2362:0.0:0.6211	.	643;624;624;643	Q92823-5;Q92823-3;E9PDA4;Q92823	.;.;.;NRCAM_HUMAN	I	643;643;624;643;624;643;643	ENSP00000368314:V643I;ENSP00000407858:V624I;ENSP00000368310:V624I;ENSP00000401244:V643I;ENSP00000368308:V643I	ENSP00000368308:V643I	V	-	1	0	NRCAM	107618940	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.956000	0.29202	1.194000	0.43101	0.655000	0.94253	GTT		0.318	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		9	15	0	0	0	0.093190	0	9	15				
RYR1	6261	broad.mit.edu	37	19	39013683	39013683	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39013683G>A	ENST00000359596.3	+	68	10275	c.10275G>A	c.(10273-10275)acG>acA	p.T3425T	RYR1_ENST00000360985.3_Silent_p.T3425T|RYR1_ENST00000355481.4_Silent_p.T3425T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3425					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGTGGCTGACGGAGCCGAATC	0.662																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10273-10275)acG>acA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						17.0	17.0	17.0					19																	39013683		2201	4298	6499	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39013683G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10275G>A	19.37:g.39013683G>A						RYR1_ENST00000360985.3_Silent_p.T3425T|RYR1_ENST00000359596.3_Silent_p.T3425T	p.T3425T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		68	10406	+	all_cancers(60;7.91e-06)		3425					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.10275G>A	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	8	0	0	0	0.080935	0	12	8				
CABS1	85438	broad.mit.edu	37	4	71201892	71201892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:71201892A>T	ENST00000273936.5	+	1	1210	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	379					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCACAACTGAAACGGATATC	0.398																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1135-1137)gAa>gTa		calcium-binding protein, spermatid-specific 1							72.0	74.0	73.0					4																	71201892		2203	4299	6502	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201892A>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.1136A>T	4.37:g.71201892A>T	ENSP00000273936:p.Glu379Val						p.E379V	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	1195	+			379					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.1136A>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429392	0.25726	.	.	ENSG00000145309	ENST00000273936	T	0.29917	1.55	4.69	3.51	0.40186	.	0.529047	0.15981	N	0.235306	T	0.31918	0.0812	L	0.27053	0.805	0.09310	N	1	D	0.54397	0.966	P	0.55577	0.779	T	0.06716	-1.0811	10	0.66056	D	0.02	-0.3084	7.2785	0.26297	0.8998:0.0:0.1002:0.0	.	379	Q96KC9	CABS1_HUMAN	V	379	ENSP00000273936:E379V	ENSP00000273936:E379V	E	+	2	0	CABS1	71236481	0.389000	0.25205	0.096000	0.21009	0.025000	0.11179	1.641000	0.37197	0.921000	0.36994	-0.274000	0.10170	GAA		0.398	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		29	12	0	0	0	0.125774	0	29	12				
SPATA17	128153	broad.mit.edu	37	1	217955658	217955658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:217955658A>G	ENST00000366933.4	+	8	921	c.866A>G	c.(865-867)gAc>gGc	p.D289G	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	289						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATGTAAATGACAATATGTGA	0.363																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(865-867)gAc>gGc		spermatogenesis associated 17							85.0	90.0	88.0					1																	217955658		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217955658A>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.866A>G	1.37:g.217955658A>G	ENSP00000355900:p.Asp289Gly					RP11-415L24.1_ENST00000415765.1_RNA	p.D289G	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	8	921	+			289					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.866A>G	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557735	0.65425	.	.	ENSG00000162814	ENST00000366933	T	0.58358	0.34	4.73	4.73	0.59995	.	0.132185	0.48767	D	0.000180	T	0.69124	0.3076	M	0.79475	2.455	0.47905	D	0.999542	D	0.76494	0.999	P	0.59546	0.859	T	0.75054	-0.3453	10	0.87932	D	0	-16.9721	14.5183	0.67833	1.0:0.0:0.0:0.0	.	289	Q96L03	SPT17_HUMAN	G	289	ENSP00000355900:D289G	ENSP00000355900:D289G	D	+	2	0	SPATA17	216022281	1.000000	0.71417	0.038000	0.18304	0.004000	0.04260	3.481000	0.53179	1.901000	0.55032	0.528000	0.53228	GAC		0.363	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		15	27	0	0	0	0.033300	0	15	27				
KCNJ12	3768	broad.mit.edu	37	17	21319078	21319078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:21319078A>T	ENST00000583088.1	+	3	1319	c.424A>T	c.(424-426)Acc>Tcc	p.T142S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	142				T -> N (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGAGACGCAGACCACCATCGG	0.657										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(424-426)Acc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 12							46.0	45.0	45.0					17																	21319078		2202	4300	6502	SO:0001583	missense	3768							g.chr17:21319078A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.424A>T	17.37:g.21319078A>T	ENSP00000463778:p.Thr142Ser	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	p.T142S	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1319	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.424A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040687	0.55003	.	.	ENSG00000184185	ENST00000331718	D	0.96830	-4.14	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.054946	0.64402	D	0.000001	D	0.95503	0.8539	M	0.76433	2.335	0.80722	D	1	P	0.39717	0.684	B	0.39258	0.295	D	0.95087	0.8218	10	0.41790	T	0.15	.	15.1094	0.72343	1.0:0.0:0.0:0.0	.	142	Q14500	IRK12_HUMAN	S	142	ENSP00000328150:T142S	ENSP00000328150:T142S	T	+	1	0	KCNJ12	21259671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.974000	0.76122	1.981000	0.57761	0.482000	0.46254	ACC		0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		13	63	0	0	0	0.119110	0	13	63				
FAM134C	162427	broad.mit.edu	37	17	40734008	40734008	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:40734008C>A	ENST00000309428.5	-	9	1283	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	FAM134C_ENST00000543197.1_Silent_p.L213L|FAM134C_ENST00000585894.1_Silent_p.L311L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	408						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGACAAGGCCAGCTGAATCA	0.622																																						ENST00000309428.5																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(1222-1224)ctG>ctT		family with sequence similarity 134, member C							54.0	52.0	53.0					17																	40734008		2203	4300	6503	SO:0001819	synonymous_variant	162427					integral to membrane		g.chr17:40734008C>A	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.1224G>T	17.37:g.40734008C>A						FAM134C_ENST00000585894.1_Silent_p.L311L|FAM134C_ENST00000543197.1_Silent_p.L213L	p.L408L	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1283	-		Breast(137;0.00116)	408					B3KR75	Silent	SNP	ENST00000309428.5	37	c.1224G>T	CCDS11432.1																																																																																				0.622	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		27	47	1	0	2.79863e-10	0.099896	3.18688e-10	27	47				
ITGB1	3688	broad.mit.edu	37	10	33199209	33199209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:33199209A>C	ENST00000396033.2	-	14	2241	c.2106T>G	c.(2104-2106)taT>taG	p.Y702*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	702					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AATACGTAAAATAGAACCAAC	0.433																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2104-2106)taT>taG		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							75.0	67.0	69.0					10																	33199209		2203	4297	6500	SO:0001587	stop_gained	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33199209A>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2106T>G	10.37:g.33199209A>C	ENSP00000379350:p.Tyr702*					ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*	p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			14	2241	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	702					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Nonsense_Mutation	SNP	ENST00000396033.2	37	c.2106T>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937725	0.92458	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	.	.	.	5.82	-2.4	0.06583	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2809	0.73784	0.3611:0.0:0.6389:0.0	.	.	.	.	X	702	.	ENSP00000303351:Y702X	Y	-	3	2	ITGB1	33239215	1.000000	0.71417	0.952000	0.39060	0.216000	0.24613	0.753000	0.26376	-0.701000	0.05063	-0.388000	0.06559	TAT		0.433	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		17	8	0	0	0	0.049695	0	17	8				
THADA	63892	broad.mit.edu	37	2	43819112	43819112	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43819112T>C	ENST00000405006.4	-	3	501	c.150A>G	c.(148-150)tcA>tcG	p.S50S	THADA_ENST00000403856.1_Silent_p.S50S|THADA_ENST00000402360.2_Silent_p.S50S|THADA_ENST00000404790.1_Silent_p.S50S|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Silent_p.S50S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	50										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AATGGATTTGTGACACTCCAT	0.313																																						ENST00000403856.1																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(148-150)tcA>tcG		thyroid adenoma associated							55.0	52.0	53.0					2																	43819112		1838	4072	5910	SO:0001819	synonymous_variant	63892						binding	g.chr2:43819112T>C	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.150A>G	2.37:g.43819112T>C						THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Silent_p.S50S|THADA_ENST00000405006.4_Silent_p.S50S|THADA_ENST00000402360.2_Silent_p.S50S|THADA_ENST00000404790.1_Silent_p.S50S	p.S50S			Q6YHU6	THADA_HUMAN			4	297	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	50					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.150A>G	CCDS46268.1																																																																																				0.313	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		5	2	0	0	0	0.029380	0	5	2				
CREBBP	1387	broad.mit.edu	37	16	3788605	3788605	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:3788605T>C	ENST00000262367.5	-	26	5158	c.4349A>G	c.(4348-4350)tAc>tGc	p.Y1450C	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1412C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1450	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.		Y -> H (in RSTS1). {ECO:0000269|PubMed:15706485}.		cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y1450C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GATCTCATGGTAAACGGCTGT	0.398			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		1	Substitution - Missense(1)	p.Y1450C(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4348-4350)tAc>tGc		CREB binding protein							76.0	70.0	72.0					16																	3788605		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3788605T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4349A>G	16.37:g.3788605T>C	ENSP00000262367:p.Tyr1450Cys					CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1412C	p.Y1450C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	26	5158	-		Ovarian(90;0.0266)	1450		Y -> H (in RSTS1).	Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4349A>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	19.14	3.769597	0.69992	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.94232	-3.38;-3.38	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	D	0.97820	0.9284	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99201	1.0873	10	0.87932	D	0	-19.0114	15.8518	0.78937	0.0:0.0:0.0:1.0	.	1480;1450	Q4LE28;Q92793	.;CBP_HUMAN	C	1450;1480;1412;39	ENSP00000262367:Y1450C;ENSP00000371502:Y1412C	ENSP00000262367:Y1450C	Y	-	2	0	CREBBP	3728606	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.997000	0.88414	2.215000	0.71742	0.459000	0.35465	TAC		0.398	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		20	3	0	0	0	0.069288	0	20	3				
CXorf22	170063	broad.mit.edu	37	X	35966561	35966561	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:35966561A>G	ENST00000297866.5	+	4	714	c.648A>G	c.(646-648)gaA>gaG	p.E216E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	216										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTAGATGAAGAGGCAATGT	0.373																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(646-648)gaA>gaG		chromosome X open reading frame 22							132.0	118.0	123.0					X																	35966561		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35966561A>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.648A>G	X.37:g.35966561A>G							p.E216E	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			4	714	+			216					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.648A>G	CCDS14237.2																																																																																				0.373	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		37	9	0	0	0	0.098360	0	37	9				
CCDC89	220388	broad.mit.edu	37	11	85396180	85396180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:85396180G>A	ENST00000316398.3	-	1	1140	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	332						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTTTGCGCTGAAGCTCC	0.498																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(994-996)Cgc>Tgc		coiled-coil domain containing 89							134.0	106.0	116.0					11																	85396180		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396180G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.994C>T	11.37:g.85396180G>A	ENSP00000320649:p.Arg332Cys						p.R332C	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	1140	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	332						Missense_Mutation	SNP	ENST00000316398.3	37	c.994C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263234	0.23051	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	4.17	0.49024	.	0.590301	0.18154	N	0.149992	T	0.48077	0.1480	M	0.69823	2.125	0.20307	N	0.999918	D	0.64830	0.994	P	0.50049	0.629	T	0.43261	-0.9402	8	.	.	.	-3.0384	7.4343	0.27145	0.12:0.0995:0.6784:0.1021	.	332	Q8N998	CCD89_HUMAN	C	332	.	.	R	-	1	0	CCDC89	85073828	0.999000	0.42202	0.970000	0.41538	0.114000	0.19823	2.723000	0.47277	0.910000	0.36722	-0.797000	0.03246	CGC		0.498	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		23	71	0	0	0	0.076483	0	23	71				
ZNF440	126070	broad.mit.edu	37	19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11943141C>T	ENST00000304060.5	+	4	1314	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTTCCCTTCGATATCATGA	0.433																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1150-1152)Cga>Tga		zinc finger protein 440							65.0	66.0	65.0					19																	11943141		2203	4298	6501	SO:0001587	stop_gained	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943141C>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1150C>T	19.37:g.11943141C>T	ENSP00000305373:p.Arg384*						p.R384*	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1314	+			384					Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	c.1150C>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.229385	0.58777	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.19	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4275	0.07416	0.2822:0.4382:0.2796:0.0	.	.	.	.	X	384	.	ENSP00000305373:R384X	R	+	1	2	ZNF440	11804141	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.688000	0.05150	0.972000	0.38314	0.205000	0.17691	CGA		0.433	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		27	22	0	0	0	0.091800	0	27	22				
MUC17	140453	broad.mit.edu	37	7	100684754	100684754	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100684754G>A	ENST00000306151.4	+	3	10121	c.10057G>A	c.(10057-10059)Gtc>Atc	p.V3353I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3353	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCAGTGGTCAGTTCTGA	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10057-10059)Gtc>Atc		mucin 17, cell surface associated							293.0	306.0	301.0					7																	100684754		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684754G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10057G>A	7.37:g.100684754G>A	ENSP00000302716:p.Val3353Ile						p.V3353I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10121	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3353			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10057G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	4.353	0.065054	0.08388	.	.	ENSG00000169876	ENST00000306151	T	0.02158	4.42	1.38	-2.77	0.05877	.	.	.	.	.	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	P	0.49447	0.924	P	0.47044	0.535	T	0.23261	-1.0193	9	0.32370	T	0.25	.	0.5542	0.00668	0.1995:0.2278:0.3436:0.2291	.	3353	Q685J3	MUC17_HUMAN	I	3353	ENSP00000302716:V3353I	ENSP00000302716:V3353I	V	+	1	0	MUC17	100471474	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.459000	0.00230	-1.855000	0.01162	0.196000	0.17591	GTC		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		450	370	0	0	0	0.139131	0	450	370				
KCNV1	27012	broad.mit.edu	37	8	110980617	110980617	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110980617G>T	ENST00000524391.1	-	4	2235	c.1203C>A	c.(1201-1203)gaC>gaA	p.D401E	KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	401					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTGTGGTGGTGTCTGGTCTAA	0.478																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1201-1203)gaC>gaA		potassium channel, subfamily V, member 1							112.0	111.0	111.0					8																	110980617		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980617G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1203C>A	8.37:g.110980617G>T	ENSP00000435954:p.Asp401Glu					KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E	p.D401E			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2235	-	all_neural(195;0.219)		401					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1203C>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	9.168	1.020391	0.19433	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98455	-4.94;-4.94	5.46	4.59	0.56863	Ion transport (1);	0.048711	0.85682	D	0.000000	D	0.90259	0.6954	N	0.00885	-1.115	0.46298	D	0.998977	P	0.41784	0.762	B	0.42245	0.381	D	0.91001	0.4842	10	0.02654	T	1	.	11.6614	0.51349	0.1482:0.0:0.8518:0.0	.	401	Q6PIU1	KCNV1_HUMAN	E	401;401;277	ENSP00000435954:D401E;ENSP00000297404:D401E	ENSP00000297404:D401E	D	-	3	2	KCNV1	111049793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.995000	0.57001	1.291000	0.44653	-0.137000	0.14449	GAC		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		43	73	1	0	4.67007e-22	0.104719	5.78618e-22	43	73				
TMEM147	10430	broad.mit.edu	37	19	36037859	36037859	+	Silent	SNP	A	A	G	rs35486099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:36037859A>G	ENST00000222284.5	+	5	502	c.357A>G	c.(355-357)ctA>ctG	p.L119L	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Silent_p.L119L|TMEM147_ENST00000392204.2_Silent_p.L70L|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	119						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATTCCCCTATGGGTCGGAG	0.562																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(208-210)ctA>ctG		transmembrane protein 147							110.0	110.0	110.0					19																	36037859		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037859A>G	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.357A>G	19.37:g.36037859A>G						TMEM147_ENST00000222284.5_Silent_p.L119L|TMEM147_ENST00000392205.1_Silent_p.L119L	p.L70L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	538	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		119					A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.210A>G	CCDS12466.1																																																																																				0.562	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		55	57	0	0	0	0.139131	0	55	57				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	8	0	0	0	0.092188	0	38	8				
AXIN1	8312	broad.mit.edu	37	16	343545	343545	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343545G>C	ENST00000262320.3	-	8	2500	c.2129C>G	c.(2128-2130)gCg>gGg	p.A710G	AXIN1_ENST00000354866.3_Missense_Mutation_p.A710G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	710	Interaction with HIPK2. {ECO:0000250}.|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				ACGTCGGCGCGCCTCCTCCAG	0.667																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2128-2130)gCg>gGg		axin 1							53.0	70.0	64.0					16																	343545		2202	4295	6497	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:343545G>C	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2129C>G	16.37:g.343545G>C	ENSP00000262320:p.Ala710Gly					AXIN1_ENST00000354866.3_Missense_Mutation_p.A710G	p.A710G	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			8	2500	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	710			Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2129C>G	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824797	0.50739	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.71817	-0.44;-0.6	4.17	4.17	0.49024	.	0.166295	0.52532	D	0.000064	T	0.78046	0.4222	M	0.72118	2.19	0.53688	D	0.999977	D;B	0.53885	0.963;0.175	P;B	0.52881	0.712;0.038	T	0.82016	-0.0666	10	0.66056	D	0.02	-2.1591	15.6374	0.76966	0.0:0.0:1.0:0.0	.	710;710	O15169-2;O15169	.;AXIN1_HUMAN	G	710	ENSP00000262320:A710G;ENSP00000346935:A710G	ENSP00000262320:A710G	A	-	2	0	AXIN1	283546	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	5.149000	0.64863	2.185000	0.69588	0.478000	0.44815	GCG		0.667	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			81	24	0	0	0	0.139131	0	81	24				
NLRP6	171389	broad.mit.edu	37	11	284488	284488	+	Missense_Mutation	SNP	G	G	A	rs376822405		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:284488G>A	ENST00000312165.5	+	7	2386	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	NLRP6_ENST00000534750.1_Missense_Mutation_p.D795N|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	796					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCTGCCTGACCCCCAGCG	0.697																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2383-2385)Gac>Aac		NLR family, pyrin domain containing 6		G	ASN/ASP	0,4406		0,0,2203	27.0	29.0	29.0		2386	-4.2	0.0	11		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP6	NM_138329.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	796/893	284488	1,13005	2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:284488G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2386G>A	11.37:g.284488G>A	ENSP00000309767:p.Asp796Asn					NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N	p.D795N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	2588	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	796					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2383G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320098	0.05386	0.0	1.16E-4	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.50548	0.74;0.74	3.06	-4.24	0.03777	.	2.754530	0.02269	N	0.068241	T	0.25005	0.0607	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16305	-1.0407	10	0.27082	T	0.32	.	9.1438	0.36919	0.6546:0.0:0.3454:0.0	.	795;796	E9PJZ8;P59044	.;NALP6_HUMAN	N	795;796	ENSP00000433617:D795N;ENSP00000309767:D796N	ENSP00000309767:D796N	D	+	1	0	NLRP6	274488	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.383000	0.01063	-0.960000	0.03613	-1.810000	0.00614	GAC		0.697	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		18	7	0	0	0	0.055883	0	18	7				
MEN1	4221	broad.mit.edu	37	11	64577227	64577227	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:64577227T>A	ENST00000337652.1	-	2	858	c.355A>T	c.(355-357)Aag>Tag	p.K119*	MEN1_ENST00000315422.4_Nonsense_Mutation_p.K119*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.K119*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.K119*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.K119*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.K119*	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	119			Missing (in MEN1). {ECO:0000269|PubMed:10849016, ECO:0000269|PubMed:12050235, ECO:0000269|PubMed:9103196, ECO:0000269|PubMed:9747036}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.K119del(2)|p.R115fs*60(1)|p.S114fs*60(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GAGACCTTCTTCACCAGCTCA	0.612			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		4	Deletion - In frame(2)|Deletion - Frameshift(1)|Complex - frameshift(1)	p.K119del(2)|p.R115fs*60(1)|p.S114fs*60(1)	parathyroid(3)|gastrointestinal_tract_(site_indeterminate)(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337	GRCh37	CM077600	MEN1	M		c.(355-357)Aag>Tag		multiple endocrine neoplasia I							80.0	81.0	81.0					11																	64577227		2201	4297	6498	SO:0001587	stop_gained	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64577227T>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.355A>T	11.37:g.64577227T>A	ENSP00000337088:p.Lys119*					MEN1_ENST00000394376.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.K119*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.K119*|MEN1_ENST00000377313.1_Nonsense_Mutation_p.K119*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.K119*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.K119*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.K119*	p.K119*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN			2	858	-			119		Missing (in MEN1).			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Nonsense_Mutation	SNP	ENST00000337652.1	37	c.355A>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	T	36	5.831716	0.97003	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626;ENST00000429702;ENST00000424912	.	.	.	4.93	4.93	0.64822	.	0.061993	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.7551	9.1612	0.37023	0.0:0.0:0.1836:0.8164	.	.	.	.	X	119	.	ENSP00000308975:K119X	K	-	1	0	MEN1	64333803	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.316000	0.59178	1.988000	0.58038	0.402000	0.26972	AAG		0.612	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			55	47	0	0	0	0.139131	0	55	47				
OR8B4	283162	broad.mit.edu	37	11	124294456	124294456	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:124294456A>C	ENST00000356130.3	-	1	333	c.312T>G	c.(310-312)tgT>tgG	p.C104W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACAAAGAAACAGAAGAAAA	0.423																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(310-312)tgT>tgG		olfactory receptor, family 8, subfamily B, member 4							105.0	103.0	104.0					11																	124294456		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294456A>C	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.312T>G	11.37:g.124294456A>C	ENSP00000348449:p.Cys104Trp						p.C104W	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	333	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	104					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.312T>G	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	13.99	2.403040	0.42613	.	.	ENSG00000198657	ENST00000356130	T	0.00626	6.13	4.62	-3.78	0.04333	GPCR, rhodopsin-like superfamily (1);	0.230323	0.31123	N	0.008209	T	0.02267	0.0070	M	0.85777	2.775	0.29793	N	0.833068	D	0.71674	0.998	D	0.64595	0.927	T	0.01021	-1.1478	10	0.87932	D	0	.	8.0243	0.30427	0.1772:0.1147:0.5956:0.1125	.	104	Q96RC9	OR8B4_HUMAN	W	104	ENSP00000348449:C104W	ENSP00000348449:C104W	C	-	3	2	OR8B4	123799666	0.000000	0.05858	0.945000	0.38365	0.989000	0.77384	-2.482000	0.00981	-0.823000	0.04301	0.533000	0.62120	TGT		0.423	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		16	51	0	0	0	0.038395	0	16	51				
IGSF11	152404	broad.mit.edu	37	3	118623581	118623581	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:118623581A>T	ENST00000393775.2	-	6	1073	c.768T>A	c.(766-768)ttT>ttA	p.F256L	IGSF11_ENST00000354673.2_Missense_Mutation_p.F255L|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Missense_Mutation_p.F232L|IGSF11_ENST00000441144.2_Missense_Mutation_p.F231L|IGSF11_ENST00000425327.2_Missense_Mutation_p.F255L	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	256					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCAATGCAAAAAATGATAA	0.348																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(763-765)ttT>ttA		immunoglobulin superfamily, member 11							114.0	129.0	124.0					3																	118623581		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623581A>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.768T>A	3.37:g.118623581A>T	ENSP00000377370:p.Phe256Leu					IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000489689.1_Missense_Mutation_p.F232L|IGSF11_ENST00000425327.2_Missense_Mutation_p.F255L|IGSF11_ENST00000393775.2_Missense_Mutation_p.F256L|IGSF11_ENST00000441144.2_Missense_Mutation_p.F231L	p.F255L	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			8	1145	-			256					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.765T>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795394	0.31777	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144	T;T;T;T;T	0.80994	-0.64;-0.86;-1.44;-0.64;-1.32	5.28	0.076	0.14401	.	0.374882	0.31472	N	0.007586	T	0.46386	0.1390	N	0.01729	-0.75	0.27956	N	0.936975	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.45249	-0.9274	10	0.06099	T	0.92	.	6.2228	0.20691	0.494:0.1356:0.3704:0.0	.	231;255;232;256	Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;IGS11_HUMAN	L	255;256;232;255;231	ENSP00000406092:F255L;ENSP00000377370:F256L;ENSP00000420486:F232L;ENSP00000346700:F255L;ENSP00000401240:F231L	ENSP00000346700:F255L	F	-	3	2	IGSF11	120106271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.131000	0.31406	0.121000	0.18284	0.533000	0.62120	TTT		0.348	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			81	137	0	0	0	0.139131	0	81	137				
ZNF687	57592	broad.mit.edu	37	1	151259689	151259689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259689G>T	ENST00000368879.2	+	2	1020	c.922G>T	c.(922-924)Ggg>Tgg	p.G308W		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCTCTAGTGGGGCCGAGGC	0.572																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(922-924)Ggg>Tgg		zinc finger protein 687							47.0	51.0	49.0					1																	151259689		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259689G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.922G>T	1.37:g.151259689G>T	ENSP00000357874:p.Gly308Trp						p.G308W	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1020	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		308					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.922G>T		.	.	.	.	.	.	.	.	.	.	G	16.56	3.156467	0.57259	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00892	5.57;5.57;5.93	4.65	4.65	0.58169	.	0.000000	0.34603	N	0.003834	T	0.01421	0.0046	L	0.29908	0.895	0.39646	D	0.970392	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.988;0.995	T	0.80248	-0.1461	9	.	.	.	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	308;308;308	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	W	308	ENSP00000336620:G308W;ENSP00000319829:G308W;ENSP00000357874:G308W	.	G	+	1	0	ZNF687	149526313	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.507000	0.73717	2.585000	0.87301	0.511000	0.50034	GGG		0.572	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		29	42	1	0	4.87955e-14	0.108266	5.65454e-14	29	42				
ZNF157	7712	broad.mit.edu	37	X	47271931	47271931	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:47271931A>C	ENST00000377073.3	+	4	545	c.459A>C	c.(457-459)aaA>aaC	p.K153N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	153					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTAGACGTAAAAGAACACCCA	0.383																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(457-459)aaA>aaC		zinc finger protein 157							76.0	64.0	68.0					X																	47271931		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271931A>C	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.459A>C	X.37:g.47271931A>C	ENSP00000366273:p.Lys153Asn						p.K153N	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	545	+			153					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.459A>C	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.546046	0.45383	.	.	ENSG00000147117	ENST00000377073	T	0.15718	2.4	2.94	-2.65	0.06095	.	.	.	.	.	T	0.12518	0.0304	L	0.42529	1.33	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.32025	-0.9922	9	0.87932	D	0	.	4.7753	0.13176	0.3961:0.1748:0.4291:0.0	.	153	P51786	ZN157_HUMAN	N	153	ENSP00000366273:K153N	ENSP00000366273:K153N	K	+	3	2	ZNF157	47156875	0.008000	0.16893	0.000000	0.03702	0.294000	0.27393	0.477000	0.22196	-0.711000	0.04995	-0.434000	0.05882	AAA		0.383	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		21	5	0	0	0	0.062417	0	21	5				
PNPLA8	50640	broad.mit.edu	37	7	108154727	108154727	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:108154727C>T	ENST00000422087.1	-	5	1473	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K	PNPLA8_ENST00000388728.5_Missense_Mutation_p.R356K|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R256K|PNPLA8_ENST00000426128.2_Missense_Mutation_p.R356K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R356K|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	356					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AATACTCACCCTTGCGATAAT	0.348																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1066-1068)aGg>aAg		patatin-like phospholipase domain containing 8							172.0	185.0	181.0					7																	108154727		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108154727C>T	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1067G>A	7.37:g.108154727C>T	ENSP00000410804:p.Arg356Lys					PNPLA8_ENST00000388728.5_Missense_Mutation_p.R356K|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R356K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R356K|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R256K	p.R356K	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			3	1192	-			356					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1067G>A	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557669	0.45590	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.71581	2.175	0.53688	D	0.999972	B	0.16396	0.017	B	0.17433	0.018	T	0.02411	-1.1163	10	0.30078	T	0.28	.	12.8931	0.58082	0.0:0.9215:0.0:0.0785	.	356	Q9NP80	PLPL8_HUMAN	K	356;356;356;356;256;356;256	ENSP00000394988:R356K;ENSP00000257694:R356K;ENSP00000373380:R356K;ENSP00000410804:R356K;ENSP00000387789:R256K;ENSP00000406779:R356K;ENSP00000402274:R256K	ENSP00000257694:R356K	R	-	2	0	PNPLA8	107941963	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.570000	0.67398	2.374000	0.81015	0.591000	0.81541	AGG		0.348	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		157	156	0	0	0	0.139131	0	157	156				
LOXL2	4017	broad.mit.edu	37	8	23243522	23243522	+	Intron	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:23243522A>T	ENST00000389131.3	-	2	287				ENTPD4_ENST00000356206.6_Silent_p.G545G	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		gCTTTGGacaaccccctgagc	0.463																																						ENST00000356206.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1633-1635)ggT>ggA		ectonucleoside triphosphate diphosphohydrolase 4							130.0	118.0	122.0					8																	23243522		876	1991	2867	SO:0001627	intron_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23243522A>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.83-17575T>A	8.37:g.23243522A>T						LOXL2_ENST00000389131.3_Intron	p.G545G			Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1870	-		Prostate(55;0.114)	0					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1635T>A	CCDS34864.1																																																																																				0.463	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			39	14	0	0	0	0.117977	0	39	14				
C17orf75	64149	broad.mit.edu	37	17	30668273	30668273	+	Silent	SNP	G	G	A	rs377619237		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:30668273G>A	ENST00000577809.1	-	2	220	c.171C>T	c.(169-171)gaC>gaT	p.D57D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.D57D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	57										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGGGCTTCCGTCCTCACTGT	0.478																																						ENST00000577809.1																			0				ovary(1)	1						c.(169-171)gaC>gaT		chromosome 17 open reading frame 75		G		1,3977		0,1,1988	207.0	202.0	204.0		171	-1.2	1.0	17		204	0,8372		0,0,4186	no	coding-synonymous	C17orf75	NM_022344.3		0,1,6174	AA,AG,GG		0.0,0.0251,0.0081		57/397	30668273	1,12349	1989	4186	6175	SO:0001819	synonymous_variant	64149				spermatogenesis			g.chr17:30668273G>A	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.171C>T	17.37:g.30668273G>A						C17orf75_ENST00000225805.4_Silent_p.D57D|RP11-227G15.3_ENST00000581915.1_RNA	p.D57D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	220	-		Breast(31;0.116)|Ovarian(249;0.182)	57					Q7Z2H4	Silent	SNP	ENST00000577809.1	37	c.171C>T	CCDS58537.1																																																																																				0.478	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		93	148	0	0	0	0.139131	0	93	148				
HDGFRP2	84717	broad.mit.edu	37	19	4498321	4498321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4498321A>G	ENST00000301284.4	+	12	1485	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		474					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTGGAGGAGAAGCTGCAGAAG	0.647																																						ENST00000301284.4																			0											c.(1420-1422)aAg>aGg									43.0	45.0	45.0					19																	4498321		2003	4180	6183	SO:0001583	missense	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4498321A>G																												ENST00000301284.4:c.1421A>G	19.37:g.4498321A>G	ENSP00000301284:p.Lys474Arg					HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	p.K474R	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			12	1485	+			474					I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.1421A>G	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524460	0.27299	.	.	ENSG00000167674	ENST00000301284	T	0.46063	0.88	4.95	2.8	0.32819	Transcription factor IIS, N-terminal (1);	0.108894	0.64402	N	0.000011	T	0.17280	0.0415	N	0.08118	0	0.25949	N	0.98278	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.29549	-1.0008	10	0.05351	T	0.99	.	8.1796	0.31302	0.8215:0.0:0.1785:0.0	.	474;474	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	R	474	ENSP00000301284:K474R	ENSP00000301284:K474R	K	+	2	0	AC011498.1	4449321	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.408000	0.44574	0.753000	0.32945	0.444000	0.29173	AAG		0.647	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			25	19	0	0	0	0.108266	0	25	19				
SLC6A5	9152	broad.mit.edu	37	11	20652257	20652257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:20652257G>A	ENST00000525748.1	+	10	1793	c.1520G>A	c.(1519-1521)tGc>tAc	p.C507Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	507					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTGTCACCTGCACCAACAGT	0.493																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1519-1521)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						222.0	190.0	201.0					11																	20652257		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652257G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1520G>A	11.37:g.20652257G>A	ENSP00000434364:p.Cys507Tyr					SLC6A5_ENST00000528440.1_3'UTR	p.C507Y	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1793	+			507					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1520G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300750	0.60195	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	5.57	5.57	0.84162	.	0.084454	0.85682	D	0.000000	T	0.78861	0.4350	L	0.59436	1.845	0.80722	D	1	P	0.35011	0.48	B	0.43082	0.407	T	0.79339	-0.1844	10	0.66056	D	0.02	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	507	Q9Y345	SC6A5_HUMAN	Y	507	ENSP00000434364:C507Y	ENSP00000434364:C507Y	C	+	2	0	SLC6A5	20608833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.863000	0.87023	2.618000	0.88619	0.655000	0.94253	TGC		0.493	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		5	115	0	0	0	0.021553	0	5	115				
CBLB	868	broad.mit.edu	37	3	105572471	105572471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:105572471T>C	ENST00000264122.4	-	3	527	c.206A>G	c.(205-207)aAt>aGt	p.N69S	CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S|CBLB_ENST00000394027.3_Missense_Mutation_p.N91S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	69	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGGTGGGCTATTTTTCAACTG	0.289			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(205-207)aAt>aGt		Cbl proto-oncogene B, E3 ubiquitin protein ligase							69.0	67.0	68.0					3																	105572471		2202	4298	6500	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105572471T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.206A>G	3.37:g.105572471T>C	ENSP00000264122:p.Asn69Ser					CBLB_ENST00000394027.3_Missense_Mutation_p.N91S|CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S	p.N69S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			3	527	-			69			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.206A>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907497	0.72868	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.7	4.52	0.55395	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.993;0.991;0.999	D;P;D	0.79108	0.922;0.873;0.992	D	0.87045	0.2143	10	0.87932	D	0	-26.7958	12.0953	0.53750	0.1289:0.0:0.0:0.8711	.	91;69;69	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	S	69;91;69;69;91;91;69;69	ENSP00000264122:N69S;ENSP00000377595:N91S;ENSP00000384816:N69S;ENSP00000384938:N69S;ENSP00000446116:N91S;ENSP00000409750:N91S;ENSP00000400949:N69S;ENSP00000393906:N69S	ENSP00000264122:N69S	N	-	2	0	CBLB	107055161	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	0.956000	0.37904	0.459000	0.35465	AAT		0.289	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		58	6	0	0	0	0.139131	0	58	6				
OR4D6	219983	broad.mit.edu	37	11	59224764	59224764	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:59224764G>T	ENST00000300127.2	+	1	354	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	111			D -> A (in dbSNP:rs17500380).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGGTGGGGCAGATATTTTTTT	0.483																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(331-333)Gat>Tat		olfactory receptor, family 4, subfamily D, member 6							173.0	173.0	173.0					11																	59224764		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224764G>T	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.331G>T	11.37:g.59224764G>T	ENSP00000300127:p.Asp111Tyr						p.D111Y	NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN			1	354	+			111		D -> A (in dbSNP:rs17500380).			B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.331G>T	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568197	0.65651	.	.	ENSG00000166884	ENST00000300127	T	0.00477	7.14	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.01421	0.0046	M	0.87097	2.86	0.42219	D	0.991846	D	0.65815	0.995	P	0.59703	0.862	T	0.52215	-0.8605	10	0.87932	D	0	-14.4512	12.4019	0.55418	0.0769:0.0:0.9231:0.0	.	111	Q8NGJ1	OR4D6_HUMAN	Y	111	ENSP00000300127:D111Y	ENSP00000300127:D111Y	D	+	1	0	OR4D6	58981340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.705000	0.68355	2.846000	0.97976	0.650000	0.86243	GAT		0.483	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		50	139	1	0	3.76525e-18	0.139131	4.49548e-18	50	139				
TPTE	7179	broad.mit.edu	37	21	10942773	10942773	+	Splice_Site	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:10942773A>G	ENST00000361285.4	-	13	997	c.668T>C	c.(667-669)gTt>gCt	p.V223A	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.V185A|TPTE_ENST00000298232.7_Splice_Site_p.V205A	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	223					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		GTTTTCTGAAACCTGACAGTT	0.348																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e12-1		transmembrane phosphatase with tensin homology							440.0	383.0	402.0					21																	10942773		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10942773A>G	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.667-1T>C	21.37:g.10942773A>G						TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.V185_splice|TPTE_ENST00000361285.4_Splice_Site_p.V223_splice	p.V205_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	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)	12	981	-			223					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.612_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	14.71	2.616208	0.46631	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.29142	1.58;1.58;1.58	2.73	2.73	0.32206	.	0.155525	0.44688	N	0.000438	T	0.54062	0.1835	M	0.82517	2.595	0.52099	D	0.999944	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.85130	0.979;0.971;0.997	T	0.58589	-0.7610	10	0.87932	D	0	-23.531	9.2476	0.37536	1.0:0.0:0.0:0.0	.	185;205;223	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	A	205;223;185	ENSP00000298232:V205A;ENSP00000355208:V223A;ENSP00000344441:V185A	ENSP00000298232:V205A	V	-	2	0	TPTE	9964644	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	7.350000	0.79385	1.204000	0.43247	0.163000	0.16589	GTT		0.348	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	51	289	0	0	0	0.139131	0	51	289				
ZBTB14	7541	broad.mit.edu	37	18	5291170	5291170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:5291170G>A	ENST00000357006.4	-	4	1375	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	ZBTB14_ENST00000400143.3_Missense_Mutation_p.P346L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	346					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CTTTAAGTCTGGGGCACGGAT	0.453																																						ENST00000357006.4																			0											c.(1036-1038)cCa>cTa		zinc finger and BTB domain containing 14							158.0	152.0	154.0					18																	5291170		2203	4300	6503	SO:0001583	missense	7541							g.chr18:5291170G>A	D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1037C>T	18.37:g.5291170G>A	ENSP00000349503:p.Pro346Leu					ZBTB14_ENST00000400143.3_Missense_Mutation_p.P346L	p.P346L	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1					4	1375	-								O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	c.1037C>T	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499421	0.44455	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.07216	3.21;3.21	5.8	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.15392	0.0371	N	0.16478	0.41	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.08146	-1.0736	10	0.62326	D	0.03	-14.9158	14.8302	0.70142	0.0689:0.0:0.9311:0.0	.	346	O43829	ZF161_HUMAN	L	346	ENSP00000349503:P346L;ENSP00000383009:P346L	ENSP00000349503:P346L	P	-	2	0	ZFP161	5281170	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.793000	0.99091	1.456000	0.47831	0.650000	0.86243	CCA		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409		48	76	0	0	0	0.139131	0	48	76				
OR2L2	26246	broad.mit.edu	37	1	248202502	248202502	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:248202502A>C	ENST00000366479.2	+	1	1029	c.933A>C	c.(931-933)aaA>aaC	p.K311N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTCAGTGAAAATGTAGACAT	0.443																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(931-933)aaA>aaC		olfactory receptor, family 2, subfamily L, member 2							61.0	60.0	60.0					1																	248202502		2203	4298	6501	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202502A>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.933A>C	1.37:g.248202502A>C	ENSP00000355435:p.Lys311Asn					OR2L13_ENST00000366478.2_Intron	p.K311N	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	1029	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		311					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.933A>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	8.776	0.927116	0.18056	.	.	ENSG00000203663	ENST00000366479	T	0.08193	3.12	2.43	-0.74	0.11115	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.40739	-0.9547	9	0.56958	D	0.05	.	2.9496	0.05858	0.6549:0.0:0.1337:0.2114	.	311	Q8NH16	OR2L2_HUMAN	N	311	ENSP00000355435:K311N	ENSP00000355435:K311N	K	+	3	2	OR2L2	246269125	0.011000	0.17503	0.002000	0.10522	0.066000	0.16364	1.074000	0.30703	-0.050000	0.13356	0.163000	0.16589	AAA		0.443	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		7	69	0	0	0	0.038147	0	7	69				
STXBP4	252983	broad.mit.edu	37	17	53120624	53120624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:53120624G>A	ENST00000376352.2	+	11	1090	c.883G>A	c.(883-885)Gat>Aat	p.D295N	STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	295					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTCAGAAGCAGATGAAATGGA	0.313																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(883-885)Gat>Aat		syntaxin binding protein 4							69.0	67.0	67.0					17																	53120624		2203	4295	6498	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53120624G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.883G>A	17.37:g.53120624G>A	ENSP00000365530:p.Asp295Asn					STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N	p.D295N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			11	1090	+			295					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.883G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492796	0.64074	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.68	4.72	0.59763	.	0.157667	0.56097	N	0.000031	T	0.47432	0.1445	L	0.52126	1.63	0.50171	D	0.999851	P;P;P	0.42456	0.673;0.78;0.476	B;B;B	0.40982	0.187;0.345;0.132	T	0.48917	-0.8992	10	0.51188	T	0.08	-16.0789	10.646	0.45621	0.0878:0.0:0.9122:0.0	.	295;220;295	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	N	295;220;295;295;220	ENSP00000365530:D295N;ENSP00000299341:D220N;ENSP00000385944:D295N;ENSP00000391087:D295N;ENSP00000381427:D220N	ENSP00000299341:D220N	D	+	1	0	STXBP4	50475623	0.996000	0.38824	1.000000	0.80357	0.895000	0.52256	1.652000	0.37313	1.417000	0.47077	0.561000	0.74099	GAT		0.313	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		5	9	0	0	0	0.014758	0	5	9				
TAF1C	9013	broad.mit.edu	37	16	84214963	84214963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:84214963G>A	ENST00000567759.1	-	10	1395	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	405					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCCGGTGCGGTCACCCACG	0.667																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1213-1215)Cgc>Tgc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							41.0	41.0	41.0					16																	84214963		2199	4299	6498	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84214963G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1213C>T	16.37:g.84214963G>A	ENSP00000455265:p.Arg405Cys					TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C	p.R405C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			10	1395	-			405					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1213C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847805	0.51164	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.66280	-0.2;-0.2;-0.2	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.092177	0.38605	N	0.001638	T	0.76608	0.4011	M	0.72118	2.19	0.52099	D	0.999943	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.969;0.998;0.969	T	0.79291	-0.1864	10	0.87932	D	0	-21.6395	12.7086	0.57076	0.0:0.0:1.0:0.0	.	379;405;312	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	405;312;312	ENSP00000367802:R405C;ENSP00000437900:R312C;ENSP00000345305:R312C	ENSP00000345305:R312C	R	-	1	0	TAF1C	82772464	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	4.223000	0.58587	2.360000	0.80028	0.655000	0.94253	CGC		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		15	4	0	0	0	0.132662	0	15	4				
HSPA6	3310	broad.mit.edu	37	1	161495385	161495385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:161495385C>T	ENST00000309758.4	+	1	1350	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGACCTCTTCCGCAGCACCCT	0.632																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(937-939)Cgc>Tgc		heat shock 70kDa protein 6 (HSP70B')							20.0	23.0	22.0					1																	161495385		2201	4294	6495	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495385C>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.937C>T	1.37:g.161495385C>T	ENSP00000310219:p.Arg313Cys						p.R313C	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1350	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		313					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.937C>T	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042249	0.35989	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01076	5.37	3.12	0.0486	0.14285	.	0.187022	0.25919	N	0.027454	T	0.03915	0.0110	H	0.97051	3.93	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	T	0.04454	-1.0950	10	0.87932	D	0	.	2.8004	0.05413	0.2025:0.4204:0.0:0.3771	.	313	P17066	HSP76_HUMAN	C	313;289	ENSP00000310219:R313C	ENSP00000310219:R313C	R	+	1	0	HSPA6	159762009	0.996000	0.38824	0.925000	0.36789	0.679000	0.39708	0.335000	0.19806	-0.233000	0.09797	-0.300000	0.09419	CGC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		5	30	0	0	0	0.021553	0	5	30				
PALB2	79728	broad.mit.edu	37	16	23646401	23646401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23646401G>A	ENST00000261584.4	-	4	1618	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	489	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAGCGGGAGAGCTGACTTT	0.468			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1465-1467)tCt>tTt	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							134.0	134.0	134.0					16																	23646401		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646401G>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1466C>T	16.37:g.23646401G>A	ENSP00000261584:p.Ser489Phe						p.S489F	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1618	-			489					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1466C>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700874	0.48307	.	.	ENSG00000083093	ENST00000261584	T	0.19250	2.16	5.67	-2.21	0.06973	.	0.795348	0.11652	N	0.542708	T	0.13157	0.0319	L	0.41027	1.25	0.09310	N	1	B	0.21071	0.051	B	0.21917	0.037	T	0.29274	-1.0017	10	0.36615	T	0.2	-0.0073	2.9224	0.05773	0.1839:0.4393:0.2488:0.128	.	489	Q86YC2	PALB2_HUMAN	F	489	ENSP00000261584:S489F	ENSP00000261584:S489F	S	-	2	0	PALB2	23553902	0.230000	0.23740	0.012000	0.15200	0.176000	0.22953	0.512000	0.22755	-0.104000	0.12154	0.655000	0.94253	TCT		0.468	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		21	163	0	0	0	0.062417	0	21	163				
APOH	350	broad.mit.edu	37	17	64224252	64224252	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:64224252G>C	ENST00000205948.6	-	2	164	c.127C>G	c.(127-129)Cca>Gca	p.P43A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	43	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTCTCCTGGCTCATAGAAT	0.483																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(127-129)Cca>Gca		apolipoprotein H (beta-2-glycoprotein I)							193.0	181.0	185.0					17																	64224252		2203	4300	6503	SO:0001583	missense	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64224252G>C		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.127C>G	17.37:g.64224252G>C	ENSP00000205948:p.Pro43Ala						p.P43A	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		2	164	-			43			Sushi 1.		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	c.127C>G	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	G	8.946	0.966934	0.18659	.	.	ENSG00000091583	ENST00000205948	T	0.64260	-0.09	5.67	3.66	0.41972	Complement control module (2);Sushi/SCR/CCP (3);	0.469539	0.24054	N	0.041976	T	0.61949	0.2388	M	0.73598	2.24	0.26531	N	0.974255	D	0.53885	0.963	P	0.47075	0.536	T	0.54323	-0.8311	10	0.19147	T	0.46	.	8.3223	0.32136	0.0792:0.0:0.7662:0.1546	.	43	P02749	APOH_HUMAN	A	43	ENSP00000205948:P43A	ENSP00000205948:P43A	P	-	1	0	APOH	61654714	0.017000	0.18338	0.207000	0.23584	0.004000	0.04260	0.937000	0.28951	0.732000	0.32470	-0.145000	0.13849	CCA		0.483	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		76	97	0	0	0	0.139131	0	76	97				
ESPL1	9700	broad.mit.edu	37	12	53662897	53662897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:53662897C>A	ENST00000257934.4	+	3	262	c.171C>A	c.(169-171)tgC>tgA	p.C57*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	57					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGGCTTGCAACCAGCAGC	0.572																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(169-171)tgC>tgA		extra spindle pole bodies homolog 1 (S. cerevisiae)							87.0	81.0	83.0					12																	53662897		2203	4300	6503	SO:0001587	stop_gained	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662897C>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.171C>A	12.37:g.53662897C>A	ENSP00000257934:p.Cys57*					ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	262	+			57						Nonsense_Mutation	SNP	ENST00000257934.4	37	c.171C>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501023	0.85176	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	.	.	.	4.81	0.933	0.19471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2408	0.37495	0.0:0.691:0.0:0.309	.	.	.	.	X	57	.	ENSP00000257934:C57X	C	+	3	2	ESPL1	51949164	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.938000	0.28965	0.068000	0.16574	0.655000	0.94253	TGC		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		40	31	1	0	1.96642e-18	0.092188	2.37659e-18	40	31				
SRPK2	6733	broad.mit.edu	37	7	104787081	104787081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:104787081G>T	ENST00000393651.3	-	8	733	c.646C>A	c.(646-648)Cac>Aac	p.H216N	SRPK2_ENST00000357311.3_Missense_Mutation_p.H205N|SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTACTGTGTAAGTAATCT	0.338																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(613-615)Cac>Aac		SRSF protein kinase 2							123.0	108.0	113.0					7																	104787081		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104787081G>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.646C>A	7.37:g.104787081G>T	ENSP00000377262:p.His216Asn					SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N|SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N	p.H205N	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			7	784	-			205			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.613C>A	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724787	0.89298	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	D;D;D	0.84516	-1.86;-1.86;-1.86	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.85130	0.997;0.997	D	0.95442	0.8526	10	0.87932	D	0	-14.4178	19.093	0.93235	0.0:0.0:1.0:0.0	.	216;205	P78362-2;P78362	.;SRPK2_HUMAN	N	216;205;205	ENSP00000377262:H216N;ENSP00000349863:H205N;ENSP00000419791:H205N	ENSP00000349863:H205N	H	-	1	0	SRPK2	104574317	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	9.801000	0.99128	2.600000	0.87896	0.561000	0.74099	CAC		0.338	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		10	37	1	0	3.03607e-14	0.093190	3.53909e-14	10	37				
DRC1	92749	broad.mit.edu	37	2	26654844	26654844	+	Missense_Mutation	SNP	G	G	T	rs201076910		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:26654844G>T	ENST00000288710.2	+	7	932	c.858G>T	c.(856-858)atG>atT	p.M286I	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	286					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AATACAACATGATCAAGATCA	0.498																																						ENST00000288710.2																			0											c.(856-858)atG>atT		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							121.0	103.0	109.0					2																	26654844		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26654844G>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.858G>T	2.37:g.26654844G>T	ENSP00000288710:p.Met286Ile					DRC1_ENST00000483675.1_3'UTR	p.M286I	NM_145038.2	NP_659475.2					7	932	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.858G>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	6.021	0.372283	0.11409	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	T	0.13778	2.56	5.65	-4.64	0.03349	.	1.378450	0.04273	N	0.342470	T	0.07728	0.0194	N	0.16743	0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37842	-0.9688	10	0.23302	T	0.38	-0.0842	7.5882	0.28006	0.1253:0.4409:0.3499:0.084	.	286	Q96MC2	CC164_HUMAN	I	286;115	ENSP00000288710:M286I	ENSP00000288710:M286I	M	+	3	0	CCDC164	26508348	0.004000	0.15560	0.012000	0.15200	0.530000	0.34684	-0.412000	0.07132	-0.535000	0.06307	-0.175000	0.13238	ATG		0.498	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		34	43	1	0	2.85442e-18	0.045705	3.42878e-18	34	43				
MYO1C	4641	broad.mit.edu	37	17	1386944	1386944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:1386944G>A	ENST00000575158.1	-	3	378	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Missense_Mutation_p.R103C			Q12965	MYO1E_HUMAN	myosin IC	75	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGGTAACGCTCCATATGC	0.627																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(307-309)Cgt>Tgt		myosin IC							46.0	43.0	44.0					17																	1386944		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1386944G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.202C>T	17.37:g.1386944G>A	ENSP00000459174:p.Arg68Cys					MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C	p.R103C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	3	631	-			103			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.307C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491083	0.64074	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.25	5.25	0.73442	Myosin head, motor domain (2);	0.245105	0.40469	N	0.001088	D	0.91088	0.7195	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.68621	0.959;0.935;0.931	D	0.91282	0.5052	10	0.59425	D	0.04	.	12.8678	0.57949	0.0:0.0:0.8373:0.1627	.	79;103;84	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	103;84;84;68;79;68	ENSP00000352834:R103C;ENSP00000412197:R84C;ENSP00000354283:R68C;ENSP00000437685:R79C	ENSP00000352834:R103C	R	-	1	0	MYO1C	1333694	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	2.757000	0.47557	2.456000	0.83038	0.491000	0.48974	CGT		0.627	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			6	13	0	0	0	0.029380	0	6	13				
TRANK1	9881	broad.mit.edu	37	3	36873305	36873305	+	Missense_Mutation	SNP	C	C	A	rs375887057		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:36873305C>A	ENST00000429976.2	-	21	7884	c.7637G>T	c.(7636-7638)cGg>cTg	p.R2546L	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1996L|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1996L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2546							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCAATCTCCCGGAAGTGGCG	0.582																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5986-5988)cGg>cTg		tetratricopeptide repeat and ankyrin repeat containing 1							66.0	68.0	68.0					3																	36873305		2121	4236	6357	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873305C>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7637G>T	3.37:g.36873305C>A	ENSP00000416168:p.Arg2546Leu					TRANK1_ENST00000429976.2_Missense_Mutation_p.R2546L|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1996L	p.R1996L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7884	-			2546					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.5987G>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365693	0.24684	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29655	1.56;1.97;1.56	5.15	-0.85	0.10720	.	0.385458	0.21474	N	0.073945	T	0.15998	0.0385	N	0.22421	0.69	0.31122	N	0.708775	B	0.25743	0.133	B	0.17433	0.018	T	0.08597	-1.0714	10	0.44086	T	0.13	.	7.0519	0.25077	0.0:0.1785:0.4892:0.3324	.	2546	O15050	TRNK1_HUMAN	L	1996;2546;1996	ENSP00000416826:R1996L;ENSP00000416168:R2546L;ENSP00000301807:R1996L	ENSP00000301807:R1996L	R	-	2	0	TRANK1	36848309	1.000000	0.71417	0.999000	0.59377	0.346000	0.29079	0.589000	0.23939	0.049000	0.15920	-0.459000	0.05422	CGG		0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		38	10	1	0	1.36161e-19	0.069456	1.66607e-19	38	10				
CLVS1	157807	broad.mit.edu	37	8	62289235	62289235	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:62289235A>G	ENST00000519846.1	+	4	999	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	176	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCGGAGCTTCAGATAAATGGC	0.448																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(526-528)cAg>cGg		clavesin 1							97.0	95.0	96.0					8																	62289235		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62289235A>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.527A>G	8.37:g.62289235A>G	ENSP00000428402:p.Gln176Arg					CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R|CLVS1_ENST00000518592.1_5'UTR	p.Q176R			Q8IUQ0	CLVS1_HUMAN			4	999	+			176			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.527A>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809718	0.90707	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.76186	-1.0;-1.0	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.81942	2.565	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	D	0.87457	0.2405	10	0.72032	D	0.01	-9.2975	15.8471	0.78901	1.0:0.0:0.0:0.0	.	176	Q8IUQ0	CLVS1_HUMAN	R	176	ENSP00000428402:Q176R;ENSP00000325506:Q176R	ENSP00000325506:Q176R	Q	+	2	0	CLVS1	62451789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.157000	0.67596	0.477000	0.44152	CAG		0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		3	82	0	0	0	0.115264	0	3	82				
OR5H15	403274	broad.mit.edu	37	3	97888085	97888085	+	Missense_Mutation	SNP	C	C	A	rs62266800		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:97888085C>A	ENST00000356526.2	+	1	542	c.542C>A	c.(541-543)aCt>aAt	p.T181N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TACTGTGACACTATCCCATTG	0.313																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(541-543)aCt>aAt		olfactory receptor, family 5, subfamily H, member 15							32.0	35.0	34.0					3																	97888085		2198	4272	6470	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888085C>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.542C>A	3.37:g.97888085C>A	ENSP00000373195:p.Thr181Asn						p.T181N	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	542	+			181						Missense_Mutation	SNP	ENST00000356526.2	37	c.542C>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	6.405	0.442816	0.12164	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37058	1.22	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.141093	0.32204	N	0.006426	T	0.20780	0.0500	N	0.20807	0.61	0.09310	N	1	B	0.19073	0.033	B	0.15052	0.012	T	0.17592	-1.0364	10	0.72032	D	0.01	.	5.8976	0.18947	0.0:0.1435:0.0:0.8565	.	181	A6NDH6	O5H15_HUMAN	N	181	ENSP00000373195:T181N	ENSP00000373195:T181N	T	+	2	0	OR5H15	99370775	0.000000	0.05858	0.025000	0.17156	0.060000	0.15804	0.676000	0.25247	0.199000	0.20427	-1.461000	0.01025	ACT		0.313	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			24	4	1	0	1.04121e-07	0.108266	1.15235e-07	24	4				
AXIN1	8312	broad.mit.edu	37	16	343549	343549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:343549C>T	ENST00000262320.3	-	8	2496	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E709K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	709	Interaction with HIPK2. {ECO:0000250}.|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CGGCGCGCCTCCTCCAGCTGG	0.677																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(2125-2127)Gag>Aag		axin 1							54.0	71.0	65.0					16																	343549		2202	4296	6498	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:343549C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2125G>A	16.37:g.343549C>T	ENSP00000262320:p.Glu709Lys					AXIN1_ENST00000354866.3_Missense_Mutation_p.E709K	p.E709K	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			8	2496	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	709			Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2125G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890769	0.52014	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.75367	-0.48;-0.93	4.17	4.17	0.49024	.	0.114600	0.64402	D	0.000004	T	0.74015	0.3661	M	0.75777	2.31	0.80722	D	1	B;B	0.29766	0.072;0.256	B;B	0.27076	0.076;0.063	T	0.77715	-0.2484	10	0.66056	D	0.02	0.0343	15.6374	0.76966	0.0:1.0:0.0:0.0	.	709;709	O15169-2;O15169	.;AXIN1_HUMAN	K	709	ENSP00000262320:E709K;ENSP00000346935:E709K	ENSP00000262320:E709K	E	-	1	0	AXIN1	283550	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	7.441000	0.80485	2.185000	0.69588	0.478000	0.44815	GAG		0.677	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			86	25	0	0	0	0.139131	0	86	25				
KRT32	3882	broad.mit.edu	37	17	39616390	39616390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39616390C>A	ENST00000225899.3	-	7	1422	c.1319G>T	c.(1318-1320)tGc>tTc	p.C440F		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	440	Tail.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCAGGGTGAGCAAGGCATGCC	0.647																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1318-1320)tGc>tTc		keratin 32							61.0	48.0	52.0					17																	39616390		2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39616390C>A	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1319G>T	17.37:g.39616390C>A	ENSP00000225899:p.Cys440Phe						p.C440F	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			7	1422	-		Breast(137;0.000812)	440			Tail.			Missense_Mutation	SNP	ENST00000225899.3	37	c.1319G>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507908	0.44558	.	.	ENSG00000108759	ENST00000225899	D	0.87966	-2.32	3.48	3.48	0.39840	.	0.515018	0.15270	N	0.271268	D	0.88789	0.6532	M	0.81497	2.545	0.32082	N	0.593023	P	0.50943	0.94	P	0.47299	0.543	D	0.90425	0.4420	10	0.87932	D	0	.	10.6518	0.45653	0.0:1.0:0.0:0.0	.	440	Q14532	K1H2_HUMAN	F	440	ENSP00000225899:C440F	ENSP00000225899:C440F	C	-	2	0	KRT32	36869916	0.850000	0.29656	0.462000	0.27118	0.014000	0.08584	1.777000	0.38604	1.939000	0.56221	0.511000	0.50034	TGC		0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		15	22	1	0	0.000422831	0.146539	0.000450258	15	22				
S1PR4	8698	broad.mit.edu	37	19	3179935	3179935	+	Missense_Mutation	SNP	G	G	A	rs562421570		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:3179935G>A	ENST00000246115.3	+	1	1200	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	382					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCAGCGTGCGGAGCATCTGA	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16875	0.0		0.0	False		,,,				2504	0.0				GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(1144-1146)cGg>cAg		sphingosine-1-phosphate receptor 4							51.0	59.0	56.0					19																	3179935		2132	4161	6293	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179935G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1145G>A	19.37:g.3179935G>A	ENSP00000246115:p.Arg382Gln						p.R382Q	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	1200	+			382					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.1145G>A	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574054	0.45902	.	.	ENSG00000125910	ENST00000246115	D	0.81579	-1.51	3.67	3.67	0.42095	.	0.178533	0.26159	N	0.025989	T	0.71417	0.3337	L	0.27053	0.805	0.30803	N	0.739649	D	0.63880	0.993	P	0.47402	0.546	T	0.72643	-0.4231	10	0.51188	T	0.08	.	8.367	0.32393	0.0:0.0:0.7656:0.2344	.	382	O95977	S1PR4_HUMAN	Q	382	ENSP00000246115:R382Q	ENSP00000246115:R382Q	R	+	2	0	S1PR4	3130935	1.000000	0.71417	0.941000	0.38009	0.828000	0.46876	2.430000	0.44766	1.899000	0.54978	0.491000	0.48974	CGG		0.652	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		50	55	0	0	0	0.139131	0	50	55				
RINL	126432	broad.mit.edu	37	19	39361466	39361466	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:39361466C>T	ENST00000591812.1	-	8	854	c.768G>A	c.(766-768)gaG>gaA	p.E256E	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Silent_p.E142E|RINL_ENST00000598904.1_Silent_p.E142E|RINL_ENST00000602238.1_5'UTR			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	256	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGAGCACGTCCTCAGGGCCTT	0.617																																						ENST00000340740.3																			0				endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						c.(424-426)gaG>gaA		Ras and Rab interactor-like							75.0	65.0	68.0					19																	39361466		2203	4300	6503	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39361466C>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.768G>A	19.37:g.39361466C>T						CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000602238.1_5'UTR|RINL_ENST00000598904.1_Silent_p.E142E|RINL_ENST00000591812.1_Silent_p.E256E	p.E142E	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN			8	813	-			142					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.426G>A	CCDS59386.1																																																																																				0.617	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		29	82	0	0	0	0.125774	0	29	82				
GRN	2896	broad.mit.edu	37	17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:42429495C>T	ENST00000053867.3	+	11	1354	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	GRN_ENST00000589265.1_Missense_Mutation_p.A274V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	431					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1291-1293)gCc>gTc		granulin							70.0	70.0	70.0					17																	42429495		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429495C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1292C>T	17.37:g.42429495C>T	ENSP00000053867:p.Ala431Val					GRN_ENST00000589265.1_Missense_Mutation_p.A274V	p.A431V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1354	+		Prostate(33;0.0181)	431					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1292C>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699967	0.68501	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.70986	-0.53	5.12	3.06	0.35304	.	0.285136	0.28736	N	0.014315	T	0.58395	0.2119	L	0.38531	1.155	0.51012	D	0.999908	B;B	0.26445	0.149;0.043	B;B	0.29440	0.102;0.037	T	0.52563	-0.8559	10	0.26408	T	0.33	-2.6506	10.3172	0.43745	0.0:0.8293:0.0:0.1707	.	368;431	B4DJI2;P28799	.;GRN_HUMAN	V	431;251	ENSP00000053867:A431V	ENSP00000053867:A431V	A	+	2	0	GRN	39785021	0.153000	0.22777	0.271000	0.24616	0.247000	0.25773	2.429000	0.44758	1.119000	0.41883	0.561000	0.74099	GCC		0.667	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		55	57	0	0	0	0.139131	0	55	57				
UBE2M	9040	broad.mit.edu	37	19	59068277	59068277	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:59068277C>T	ENST00000253023.3	-	3	803	c.225G>A	c.(223-225)aaG>aaA	p.K75K	AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|CHMP2A_ENST00000312547.2_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	75					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAACACAAACTTCCCACTCT	0.567																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(223-225)aaG>aaA		ubiquitin-conjugating enzyme E2M							50.0	50.0	50.0					19																	59068277		2203	4300	6503	SO:0001819	synonymous_variant	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59068277C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.225G>A	19.37:g.59068277C>T							p.K75K	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	803	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	75					O76069|Q8VC50	Silent	SNP	ENST00000253023.3	37	c.225G>A	CCDS12987.1																																																																																				0.567	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		25	10	0	0	0	0.099896	0	25	10				
DGKG	1608	broad.mit.edu	37	3	185986617	185986617	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:185986617C>T	ENST00000265022.3	-	12	1628	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	DGKG_ENST00000344484.4_Silent_p.A363A|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000382164.4_Intron	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	363					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGCAGTGCCGCGCGGTGACAC	0.612																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(1087-1089)gcG>gcA		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						75.0	57.0	63.0					3																	185986617		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185986617C>T	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1089G>A	3.37:g.185986617C>T						DGKG_ENST00000382164.4_Intron|DGKG_ENST00000344484.4_Silent_p.A363A|DGKG_ENST00000544847.1_Intron	p.A363A	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	12	1628	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		363					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.1089G>A	CCDS3274.1																																																																																				0.612	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			21	30	0	0	0	0.062417	0	21	30				
TTN	7273	broad.mit.edu	37	2	179581995	179581995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:179581995C>A	ENST00000591111.1	-	86	24739	c.24515G>T	c.(24514-24516)tGg>tTg	p.W8172L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.W8489L|TTN_ENST00000342992.6_Missense_Mutation_p.W7245L			Q8WZ42	TITIN_HUMAN	titin	12356	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTGGCCCAAGTGATTTT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25465-25467)tGg>tTg		titin							74.0	75.0	75.0					2																	179581995		1893	4118	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179581995C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24515G>T	2.37:g.179581995C>A	ENSP00000465570:p.Trp8172Leu					TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.W8489L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	25690	-			8172			Ig-like 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25466G>T		.	.	.	.	.	.	.	.	.	.	C	14.47	2.546004	0.45383	.	.	ENSG00000155657	ENST00000342992	D	0.96265	-3.96	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.99007	0.9661	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	9	0.87932	D	0	.	19.8125	0.96553	0.0:1.0:0.0:0.0	.	8172	Q8WZ42	TITIN_HUMAN	L	7245	ENSP00000343764:W7245L	ENSP00000343764:W7245L	W	-	2	0	TTN	179290240	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.963000	0.70372	2.745000	0.94114	0.655000	0.94253	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	37	1	0	4.3181e-19	0.054565	5.25102e-19	34	37				
KIF13A	63971	broad.mit.edu	37	6	17764996	17764996	+	Missense_Mutation	SNP	C	C	A	rs184686655	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:17764996C>A	ENST00000259711.6	-	39	4868	c.4763G>T	c.(4762-4764)cGt>cTt	p.R1588L	KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1540L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1588					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4618-4620)cGt>cTt		kinesin family member 13A							84.0	83.0	84.0					6																	17764996		2003	4165	6168	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764996C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4763G>T	6.37:g.17764996C>A	ENSP00000259711:p.Arg1588Leu					KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L	p.R1540L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	4618	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1588					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4619G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062335	0.93898	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	6.07	6.07	0.98685	.	0.275476	0.29280	N	0.012608	T	0.51278	0.1665	L	0.34521	1.04	0.58432	D	0.999997	D;P;D;P	0.71674	0.998;0.946;0.994;0.946	D;P;P;P	0.75484	0.986;0.614;0.83;0.614	T	0.24261	-1.0165	10	0.23891	T	0.37	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	1540;1553;1588;1540	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	L	1540;592;1588;1553;1540;1553	ENSP00000368091:R1540L;ENSP00000425616:R592L;ENSP00000259711:R1588L;ENSP00000368103:R1553L;ENSP00000368120:R1540L;ENSP00000368093:R1553L	ENSP00000259711:R1588L	R	-	2	0	KIF13A	17872975	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.469000	0.80959	2.890000	0.99128	0.585000	0.79938	CGT		0.502	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			11	6	1	0	3.86212e-05	0.069234	4.15758e-05	11	6				
NCAM2	4685	broad.mit.edu	37	21	22881352	22881352	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:22881352T>A	ENST00000400546.1	+	16	2507	c.2258T>A	c.(2257-2259)cTc>cAc	p.L753H	NCAM2_ENST00000284894.7_Missense_Mutation_p.L611H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	753					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGTAAAGAACTCGAAGAAGGA	0.463																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(2257-2259)cTc>cAc		neural cell adhesion molecule 2							95.0	91.0	93.0					21																	22881352		1940	4148	6088	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22881352T>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2258T>A	21.37:g.22881352T>A	ENSP00000383392:p.Leu753His					NCAM2_ENST00000284894.7_Missense_Mutation_p.L611H	p.L753H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	16	2507	+		Lung NSC(9;0.195)	753					A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2258T>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384492	0.82792	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.62364	0.03;0.12	5.37	5.37	0.77165	.	0.115287	0.64402	D	0.000012	T	0.67887	0.2941	M	0.65498	2.005	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.48901	0.594;0.594	T	0.73392	-0.3997	10	0.87932	D	0	-13.183	14.5119	0.67794	0.0:0.0:0.0:1.0	.	611;753	B7Z5K2;O15394	.;NCAM2_HUMAN	H	753;611	ENSP00000383392:L753H;ENSP00000284894:L611H	ENSP00000284894:L611H	L	+	2	0	NCAM2	21803223	1.000000	0.71417	0.936000	0.37596	0.951000	0.60555	7.625000	0.83145	2.168000	0.68352	0.519000	0.50382	CTC		0.463	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		30	31	0	0	0	0.125774	0	30	31				
ZNF687	57592	broad.mit.edu	37	1	151259690	151259690	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151259690G>T	ENST00000368879.2	+	2	1021	c.923G>T	c.(922-924)gGg>gTg	p.G308V		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTCTAGTGGGGCCGAGGCT	0.567																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(922-924)gGg>gTg		zinc finger protein 687							47.0	51.0	49.0					1																	151259690		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259690G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.923G>T	1.37:g.151259690G>T	ENSP00000357874:p.Gly308Val						p.G308V	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1021	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		308					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.923G>T		.	.	.	.	.	.	.	.	.	.	G	14.72	2.619004	0.46736	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00784	5.7;5.7;6.05	4.65	4.65	0.58169	.	0.000000	0.34603	N	0.003834	T	0.00552	0.0018	L	0.29908	0.895	0.58432	D	0.999994	P;P;P	0.40332	0.713;0.59;0.713	B;B;B	0.43575	0.424;0.243;0.424	D	0.84175	0.0436	9	.	.	.	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	308;308;308	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	V	308	ENSP00000336620:G308V;ENSP00000319829:G308V;ENSP00000357874:G308V	.	G	+	2	0	ZNF687	149526314	0.996000	0.38824	0.997000	0.53966	0.964000	0.63967	2.620000	0.46410	2.585000	0.87301	0.511000	0.50034	GGG		0.567	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		31	43	1	0	7.26314e-15	0.125774	8.5169e-15	31	43				
GGNBP2	79893	broad.mit.edu	37	17	34912940	34912940	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:34912940G>C	ENST00000304718.4	+	4	508	c.192G>C	c.(190-192)aaG>aaC	p.K64N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	64					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTATGCTTAAGCAACAGGATC	0.443																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(190-192)aaG>aaC		gametogenetin binding protein 2							188.0	174.0	179.0					17																	34912940		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34912940G>C	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.192G>C	17.37:g.34912940G>C	ENSP00000307617:p.Lys64Asn						p.K64N	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	508	+		Breast(25;0.00957)|Ovarian(249;0.17)	64					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.192G>C	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924411	0.34002	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.08	-0.319	0.12725	.	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	N	0.25647	0.755	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.002	T	0.08994	-1.0695	9	0.21014	T	0.42	-0.827	9.8916	0.41294	0.5265:0.0:0.4735:0.0	.	64;64	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	N	64	.	ENSP00000307617:K64N	K	+	3	2	GGNBP2	31987053	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.429000	0.21412	-0.039000	0.13602	0.579000	0.79373	AAG		0.443	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		55	75	0	0	0	0.139131	0	55	75				
CACNA1G	8913	broad.mit.edu	37	17	48699024	48699024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:48699024C>A	ENST00000359106.5	+	35	5929	c.5929C>A	c.(5929-5931)Cct>Act	p.P1977T	CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1943T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000360761.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1977					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCTAGATCCCTCTAGCTGA	0.562																																						ENST00000354983.4																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5827-5829)Cct>Act		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						100.0	97.0	98.0					17																	48699024		2135	4225	6360	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48699024C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5929C>A	17.37:g.48699024C>A	ENSP00000352011:p.Pro1977Thr					CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000442258.2_Intron	p.P1943T	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6199	+	Breast(11;6.7e-17)		1977					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5827C>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.879137	0.51801	.	.	ENSG00000006283	ENST00000354983;ENST00000502264;ENST00000507336;ENST00000359106	T;D;T;T	0.98280	0.61;-4.84;0.61;0.61	4.97	3.98	0.46160	.	5.198900	0.00166	N	0.000014	D	0.96457	0.8844	N	0.22421	0.69	0.43657	D	0.996077	B;P;B;B	0.34562	0.069;0.457;0.137;0.102	B;B;B;B	0.33890	0.082;0.172;0.147;0.034	T	0.82261	-0.0545	10	0.66056	D	0.02	.	15.427	0.75061	0.0:0.8606:0.1394:0.0	.	1906;1966;1954;1977	O43497-10;Q19QZ7;O43497-4;O43497	.;.;.;CAC1G_HUMAN	T	1943;1906;1966;1977	ENSP00000347078:P1943T;ENSP00000425522:P1906T;ENSP00000420918:P1966T;ENSP00000352011:P1977T	ENSP00000347078:P1943T	P	+	1	0	CACNA1G	46054023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.369000	0.59511	1.036000	0.39998	0.655000	0.94253	CCT		0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		13	28	1	0	9.31168e-06	0.105934	1.00791e-05	13	28				
ADCY10	55811	broad.mit.edu	37	1	167865864	167865864	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:167865864G>A	ENST00000367851.4	-	7	892	c.708C>T	c.(706-708)ttC>ttT	p.F236F	ADCY10_ENST00000367848.1_Silent_p.F144F|ADCY10_ENST00000545172.1_Silent_p.F83F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	236					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATAATGCATGAAGGTCGTAC	0.368																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(430-432)ttC>ttT		adenylate cyclase 10 (soluble)							191.0	206.0	201.0					1																	167865864		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865864G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.708C>T	1.37:g.167865864G>A						ADCY10_ENST00000545172.1_Silent_p.F83F|ADCY10_ENST00000367851.4_Silent_p.F236F	p.F144F			Q96PN6	ADCYA_HUMAN			7	929	-			236			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.432C>T	CCDS1265.1																																																																																				0.368	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		57	281	0	0	0	0.139131	0	57	281				
ARID3A	1820	broad.mit.edu	37	19	971943	971943	+	Missense_Mutation	SNP	G	G	C	rs200079740	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:971943G>C	ENST00000263620.3	+	9	1987	c.1660G>C	c.(1660-1662)Ggc>Cgc	p.G554R		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	554	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Aggcggcggcggcggcggcag	0.667																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1660-1662)Ggc>Cgc		AT rich interactive domain 3A (BRIGHT-like)							23.0	30.0	27.0					19																	971943		2198	4285	6483	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971943G>C	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1660G>C	19.37:g.971943G>C	ENSP00000263620:p.Gly554Arg						p.G554R	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1987	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	554			Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.1660G>C	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	-	7.776	0.708398	0.15239	.	.	ENSG00000116017	ENST00000263620	T	0.40476	1.03	4.91	-4.77	0.03219	.	1.561180	0.03550	N	0.225305	T	0.15912	0.0383	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.17018	-1.0383	10	0.16896	T	0.51	.	7.1068	0.25368	0.3652:0.0:0.5056:0.1292	.	554	Q99856	ARI3A_HUMAN	R	554	ENSP00000263620:G554R	ENSP00000263620:G554R	G	+	1	0	ARID3A	922943	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.079000	0.01369	-1.207000	0.02637	-0.219000	0.12488	GGC		0.667	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		16	47	0	0	0	0.146539	0	16	47				
DOCK6	57572	broad.mit.edu	37	19	11323947	11323947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:11323947G>A	ENST00000294618.7	-	35	4407	c.4396C>T	c.(4396-4398)Ctc>Ttc	p.L1466F	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1466					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGTCGTAGGAGCCTCAGGCAC	0.652																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4396-4398)Ctc>Ttc		dedicator of cytokinesis 6							34.0	43.0	40.0					19																	11323947		2186	4289	6475	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11323947G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4396C>T	19.37:g.11323947G>A	ENSP00000294618:p.Leu1466Phe					DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F|CTC-510F12.2_ENST00000588634.1_RNA	p.L1466F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			35	4407	-			1466					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4396C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735935	0.89482	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.64991	-0.13;-0.13	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.986	D	0.85655	0.1285	10	0.87932	D	0	-34.8798	17.1473	0.86769	0.0:0.0:1.0:0.0	.	805;1466	C9IZV6;Q96HP0	.;DOCK6_HUMAN	F	1466;805	ENSP00000294618:L1466F;ENSP00000321556:L805F	ENSP00000294618:L1466F	L	-	1	0	DOCK6	11184947	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.823000	0.86660	2.350000	0.79820	0.650000	0.86243	CTC		0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		12	30	0	0	0	0.080935	0	12	30				
XIST	7503	broad.mit.edu	37	X	73071310	73071310	+	lincRNA	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:73071310C>T	ENST00000429829.1	-	0	1278					NR_001564.2				X inactive specific transcript (non-protein coding)																		TTGAACACTGCGACAGAACTG	0.527																																						ENST00000429829.1																			0																				244.0	221.0	228.0					X																	73071310		876	1991	2867			7503							g.chrX:73071310C>T	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071310C>T								NR_001564.2						0	1278	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.527	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		113	24	0	0	0	0.139131	0	113	24				
WNT11	7481	broad.mit.edu	37	11	75907652	75907652	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:75907652A>G	ENST00000322563.3	-	2	318	c.194T>C	c.(193-195)cTc>cCc	p.L65P	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	65					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CGTGTGCATGAGCTCCAGGTT	0.647																																						ENST00000322563.3																			0				breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(193-195)cTc>cCc		wingless-type MMTV integration site family, member 11							68.0	59.0	62.0					11																	75907652		2200	4292	6492	SO:0001583	missense	7481				adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	g.chr11:75907652A>G	Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.194T>C	11.37:g.75907652A>G	ENSP00000325526:p.Leu65Pro						p.L65P	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN			2	318	-			65					B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	ENST00000322563.3	37	c.194T>C	CCDS8242.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694440	0.68386	.	.	ENSG00000085741	ENST00000322563;ENST00000531317;ENST00000447195	T	0.78003	-1.14	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.87951	0.6307	M	0.84082	2.675	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.89608	0.3839	10	0.66056	D	0.02	.	14.0087	0.64481	1.0:0.0:0.0:0.0	.	65	O96014	WNT11_HUMAN	P	65	ENSP00000325526:L65P	ENSP00000325526:L65P	L	-	2	0	WNT11	75585300	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.050000	0.71063	1.892000	0.54788	0.533000	0.62120	CTC		0.647	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383083.1	NM_004626		40	26	0	0	0	0.092188	0	40	26				
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579755.1_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(328-330)tGg>tAg		cyclin-dependent kinase inhibitor 2A							18.0	20.0	20.0					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971029C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	599	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		43	5	0	0	0	0.104719	0	43	5				
TNRC18	84629	broad.mit.edu	37	7	5391493	5391493	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:5391493C>T	ENST00000430969.1	-	17	5775	c.5427G>A	c.(5425-5427)gcG>gcA	p.A1809A	TNRC18_ENST00000399537.4_Silent_p.A1809A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1809							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGAGGAACGCGCCTCGGCCT	0.592																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(5425-5427)gcG>gcA		trinucleotide repeat containing 18							17.0	16.0	16.0					7																	5391493		1568	3581	5149	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5391493C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5427G>A	7.37:g.5391493C>T						TNRC18_ENST00000430969.1_Silent_p.A1809A	p.A1809A			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5775	-		Ovarian(82;0.142)	1809					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.5427G>A	CCDS47534.1																																																																																				0.592	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				15	12	0	0	0	0.146539	0	15	12				
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	Nonsense_Mutation	SNP	G	G	A	rs533793961		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:11421068G>A	ENST00000279573.7	-	3	250	c.115C>T	c.(115-117)Cga>Tga	p.R39*	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000381842.3_Nonsense_Mutation_p.R39*|PRB3_ENST00000538488.1_Nonsense_Mutation_p.R39*			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	39	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547													-|||	1	0.000199681	0.0008	0.0	5008	,	,		13936	0.0		0.0	False		,,,				2504	0.0					ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							96.0	80.0	85.0					12																	11421068		2143	4242	6385	SO:0001587	stop_gained	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11421068G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.115C>T	12.37:g.11421068G>A	ENSP00000279573:p.Arg39*					PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	152	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	10.73	1.431272	0.25813	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	.	.	.	0.548	-1.1	0.09872	.	.	.	.	.	.	.	.	.	.	.	0.51767	A	0.999938	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	.	.	.	.	.	.	.	X	39	.	ENSP00000279573:R39X	R	-	1	2	PRB3	11312335	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-0.642000	0.05427	-0.466000	0.06943	0.164000	0.16699	CGA		0.547	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		57	92	0	0	0	0.139131	0	57	92				
KSR1	8844	broad.mit.edu	37	17	25783823	25783823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:25783823A>T	ENST00000319524.6	+	1	154	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	KSR1_ENST00000509603.2_Missense_Mutation_p.I52F			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	52					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGACATCTCCATCGGCAGCCT	0.716																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(154-156)Atc>Ttc		kinase suppressor of ras 1							34.0	35.0	35.0					17																	25783823		876	1991	2867	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783823A>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.154A>T	17.37:g.25783823A>T	ENSP00000323178:p.Ile52Phe					KSR1_ENST00000509603.2_Missense_Mutation_p.I52F	p.I52F			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	154	+	Lung NSC(42;0.00836)		50					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.154A>T		.	.	.	.	.	.	.	.	.	.	A	18.10	3.549603	0.65311	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	D;D	0.81908	-1.55;-1.54	4.79	3.69	0.42338	.	0.240061	0.35772	N	0.002985	D	0.85805	0.5782	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84695	0.0725	7	0.54805	T	0.06	.	10.5737	0.45214	0.5492:0.4508:0.0:0.0	.	.	.	.	F	52	ENSP00000323178:I52F;ENSP00000438795:I52F	ENSP00000323178:I52F	I	+	1	0	KSR1	22807950	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.004000	0.49513	0.758000	0.33059	0.379000	0.24179	ATC		0.716	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		29	32	0	0	0	0.059317	0	29	32				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	21	0	0	0	0.014758	0	4	21				
TMPO	7112	broad.mit.edu	37	12	98931317	98931317	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:98931317A>T	ENST00000556029.1	+	4	986	c.630A>T	c.(628-630)gtA>gtT	p.V210V	TMPO_ENST00000343315.5_Silent_p.V210V|TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	210	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACTCCAGTAACACTCAAGC	0.388																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(628-630)gtA>gtT		thymopoietin							106.0	97.0	100.0					12																	98931317		2203	4300	6503	SO:0001819	synonymous_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98931317A>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.630A>T	12.37:g.98931317A>T						TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V	p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			4	986	+			210			NAKAP95-binding N.|Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.630A>T	CCDS31879.1																																																																																				0.388	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		7	14	0	0	0	0.029380	0	7	14				
KIAA1958	158405	broad.mit.edu	37	9	115407987	115407987	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr9:115407987A>G	ENST00000337530.6	+	3	1525	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	410										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GACTTGAATGATCTGTGTACC	0.383																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1228-1230)gAt>gGt		KIAA1958							112.0	92.0	99.0					9																	115407987		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115407987A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1229A>G	9.37:g.115407987A>G	ENSP00000336940:p.Asp410Gly					KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	p.D410G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			3	1525	+			410					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1229A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005824	0.35415	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	T	0.42900	0.96	5.5	4.37	0.52481	.	.	.	.	.	T	0.26159	0.0638	N	0.19112	0.55	0.22511	N	0.999039	B;B	0.30482	0.281;0.0	B;B	0.27076	0.076;0.0	T	0.14615	-1.0466	9	0.21014	T	0.42	.	9.7311	0.40361	0.9157:0.0:0.0843:0.0	.	438;410	B7ZKW6;Q8N8K9	.;K1958_HUMAN	G	410;438	ENSP00000336940:D410G	ENSP00000336940:D410G	D	+	2	0	KIAA1958	114447808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.365000	0.52335	0.936000	0.37367	0.533000	0.62120	GAT		0.383	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		16	40	0	0	0	0.038395	0	16	40				
BCAP29	55973	broad.mit.edu	37	7	107234422	107234422	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:107234422A>G	ENST00000005259.4	+	4	555	c.216A>G	c.(214-216)aaA>aaG	p.K72K	BCAP29_ENST00000379121.2_5'Flank|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000379119.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000445771.2_Silent_p.K72K	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	72					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGTAAGGAAATATTCCTCAG	0.353																																						ENST00000379119.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(214-216)aaA>aaG		B-cell receptor-associated protein 29							105.0	107.0	106.0					7																	107234422		2203	4300	6503	SO:0001819	synonymous_variant	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107234422A>G		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.216A>G	7.37:g.107234422A>G						BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000465919.1_5'UTR	p.K72K	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN			3	230	+			72					G5E9L4|O95003	Silent	SNP	ENST00000005259.4	37	c.216A>G	CCDS34731.1																																																																																				0.353	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		49	33	0	0	0	0.139131	0	49	33				
VWA3A	146177	broad.mit.edu	37	16	22134933	22134933	+	Splice_Site	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:22134933G>T	ENST00000389398.5	+	16	1533		c.e16-1		VWA3A_ENST00000389397.4_Splice_Site	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACTTCTGCAGCAACAGCTCA	0.572																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.e16-1		von Willebrand factor A domain containing 3A							87.0	89.0	88.0					16																	22134933		2014	4176	6190	SO:0001630	splice_region_variant	146177					extracellular region		g.chr16:22134933G>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1438-1G>T	16.37:g.22134933G>T						VWA3A_ENST00000389398.5_Splice_Site				A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	16	1533	+								A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Splice_Site	SNP	ENST00000389398.5	37		CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636310	0.29068	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3A	22042434	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	6.690000	0.74567	2.763000	0.94921	0.563000	0.77884	.		0.572	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		Intron	38	85	1	0	2.35968e-33	0.080422	3.09905e-33	38	85				
LRP1B	53353	broad.mit.edu	37	2	141359067	141359067	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:141359067A>T	ENST00000389484.3	-	42	7912	c.6941T>A	c.(6940-6942)aTg>aAg	p.M2314K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2314					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCTGACATGGTGATGAC	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6940-6942)aTg>aAg		low density lipoprotein receptor-related protein 1B							157.0	131.0	140.0					2																	141359067		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359067A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6941T>A	2.37:g.141359067A>T	ENSP00000374135:p.Met2314Lys	TSP Lung(27;0.18)					p.M2314K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7912	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2314					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6941T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592750	0.66219	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89681	-2.55	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.113143	0.56097	D	0.000026	T	0.82024	0.4947	N	0.25647	0.755	0.50171	D	0.999856	P	0.42827	0.791	B	0.40864	0.342	T	0.79911	-0.1603	10	0.13470	T	0.59	.	15.0609	0.71951	1.0:0.0:0.0:0.0	.	2314	Q9NZR2	LRP1B_HUMAN	K	2314;2252	ENSP00000374135:M2314K	ENSP00000374135:M2314K	M	-	2	0	LRP1B	141075537	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.230000	0.95299	2.015000	0.59207	0.459000	0.35465	ATG		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	36	0	0	0	0.119110	0	13	36				
SRGAP3	9901	broad.mit.edu	37	3	9055160	9055160	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:9055160C>A	ENST00000383836.3	-	17	2406	c.1979G>T	c.(1978-1980)gGg>gTg	p.G660V	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	660	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGGTAGGCCCGAAGCAGAT	0.527			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1978-1980)gGg>gTg		SLIT-ROBO Rho GTPase activating protein 3							119.0	105.0	110.0					3																	9055160		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055160C>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1979G>T	3.37:g.9055160C>A	ENSP00000373347:p.Gly660Val					SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V	p.G660V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2406	-			660			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1979G>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850344	0.91277	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.49720	0.77;1.71	5.54	5.54	0.83059	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.85547	0.1219	10	0.87932	D	0	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	636;660	O43295-2;O43295	.;SRGP2_HUMAN	V	660;636	ENSP00000373347:G660V;ENSP00000353587:G636V	ENSP00000353587:G636V	G	-	2	0	SRGAP3	9030160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.606000	0.88127	0.655000	0.94253	GGG		0.527	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	36	1	0	5.18039e-06	0.038147	5.66965e-06	8	36				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	134	0	0	0	0.115264	0	3	134				
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:170695536C>G	ENST00000239461.6	+	3	906	c.593C>G	c.(592-594)cCg>cGg	p.P198R	PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	198					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562																																						ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.(592-594)cCg>cGg		paired related homeobox 1							92.0	83.0	86.0					1																	170695536		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170695536C>G	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.593C>G	1.37:g.170695536C>G	ENSP00000239461:p.Pro198Arg					PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR	p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			3	906	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		198					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.593C>G	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202309	0.79127	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.92805	-2.93;-3.11;-3.01;-1.34	5.39	5.39	0.77823	.	0.055741	0.64402	D	0.000001	D	0.88555	0.6468	M	0.61703	1.905	0.58432	D	0.999998	P;P	0.43431	0.807;0.772	B;B	0.39738	0.308;0.263	D	0.89277	0.3609	10	0.45353	T	0.12	.	17.7361	0.88394	0.0:1.0:0.0:0.0	.	198;198	P54821;P54821-2	PRRX1_HUMAN;.	R	198;198;198;43;43	ENSP00000356734:P198R;ENSP00000239461:P198R;ENSP00000450762:P198R;ENSP00000451225:P43R	ENSP00000239461:P198R	P	+	2	0	PRRX1	168962160	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.500000	0.66943	2.533000	0.85409	0.650000	0.86243	CCG		0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		25	37	0	0	0	0.116897	0	25	37				
RHOBTB2	23221	broad.mit.edu	37	8	22864434	22864434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:22864434C>T	ENST00000251822.6	+	5	1213	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R248W|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R233W|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	226					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAATGTGCAGCGGCCTCTGCT	0.662																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(676-678)Cgg>Tgg		Rho-related BTB domain containing 2							85.0	85.0	85.0					8																	22864434		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864434C>T	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.676C>T	8.37:g.22864434C>T	ENSP00000251822:p.Arg226Trp					RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.R233W|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.R248W	p.R226W	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1213	+		Prostate(55;0.0513)|Breast(100;0.214)	226					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.676C>T	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799352	0.70567	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.10477	2.87;2.87;2.87	5.26	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	M	0.61703	1.905	0.52501	D	0.999957	D;D;D	0.67145	0.989;0.989;0.996	P;P;P	0.54856	0.762;0.762;0.762	T	0.00385	-1.1773	10	0.87932	D	0	.	11.5655	0.50802	0.3028:0.6972:0.0:0.0	.	233;226;248	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	W	248;233;226	ENSP00000427926:R248W;ENSP00000429141:R233W;ENSP00000251822:R226W	ENSP00000251822:R226W	R	+	1	2	RHOBTB2	22920379	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.619000	0.24388	2.437000	0.82529	0.655000	0.94253	CGG		0.662	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			52	19	0	0	0	0.139131	0	52	19				
ANKK1	255239	broad.mit.edu	37	11	113266828	113266828	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:113266828G>C	ENST00000303941.3	+	5	816	c.722G>C	c.(721-723)gGc>gCc	p.G241A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GTGGCGGCAGGCATGCGGCCC	0.597																																						ENST00000303941.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(721-723)gGc>gCc		ankyrin repeat and kinase domain containing 1							60.0	64.0	63.0					11																	113266828		2032	4170	6202	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113266828G>C	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.722G>C	11.37:g.113266828G>C	ENSP00000306678:p.Gly241Ala						p.G241A	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	5	816	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	241			Protein kinase.			Missense_Mutation	SNP	ENST00000303941.3	37	c.722G>C	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626332	0.87560	.	.	ENSG00000170209	ENST00000303941	D	0.84223	-1.82	4.44	4.44	0.53790	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	U	0.000131	D	0.92341	0.7570	M	0.83692	2.655	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.92724	0.6194	10	0.48119	T	0.1	-32.4225	16.2135	0.82186	0.0:0.0:1.0:0.0	.	241	Q8NFD2	ANKK1_HUMAN	A	241	ENSP00000306678:G241A	ENSP00000306678:G241A	G	+	2	0	ANKK1	112772038	1.000000	0.71417	0.114000	0.21550	0.098000	0.18820	7.265000	0.78442	2.285000	0.76669	0.462000	0.41574	GGC		0.597	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		22	52	0	0	0	0.083992	0	22	52				
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1849-1851)ttC>ttA		ubiquitin specific peptidase 16							126.0	130.0	129.0					21																	30419482		2203	4300	6503	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419482C>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1851C>A	21.37:g.30419482C>A	ENSP00000334808:p.Phe617Leu					USP16_ENST00000535828.1_Missense_Mutation_p.F246L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L	p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	2082	+			617						Missense_Mutation	SNP	ENST00000334352.4	37	c.1851C>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	USP16	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC		0.363	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			62	13	1	0	9.4991e-31	0.139131	1.23929e-30	62	13				
TNRC6B	23112	broad.mit.edu	37	22	40658079	40658079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:40658079G>T	ENST00000454349.2	+	4	570	c.359G>T	c.(358-360)gGt>gTt	p.G120V	TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G120V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	120	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTCCTTGGGGGTGGGGCAGGG	0.632																																						ENST00000454349.2																			0				breast(1)	1						c.(358-360)gGt>gTt		trinucleotide repeat containing 6B							19.0	22.0	21.0					22																	40658079		2060	4190	6250	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40658079G>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.359G>T	22.37:g.40658079G>T	ENSP00000401946:p.Gly120Val					TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V	p.G120V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			4	570	+			120					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.359G>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748727	0.89753	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	L	0.42245	1.32	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.961	P;D;P	0.65323	0.902;0.934;0.804	T	0.49143	-0.8970	10	0.23891	T	0.37	-7.1363	20.5373	0.99239	0.0:0.0:1.0:0.0	.	120;120;156	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	V	156;156;120;120;120	ENSP00000306759:G156V;ENSP00000384795:G156V;ENSP00000401946:G120V;ENSP00000338371:G120V	ENSP00000306759:G156V	G	+	2	0	TNRC6B	38988025	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.405000	0.73272	2.857000	0.98124	0.650000	0.86243	GGT		0.632	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	1	1	0	0.00448238	0.047766	0.00469696	8	1				
COL1A2	1278	broad.mit.edu	37	7	94038122	94038122	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94038122C>A	ENST00000297268.6	+	16	1250	c.779C>A	c.(778-780)gCc>gAc	p.A260D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	260					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCCCAGGTGCCCCTGGCCCC	0.433										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(778-780)gCc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						57.0	58.0	58.0					7																	94038122		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038122C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.779C>A	7.37:g.94038122C>A	ENSP00000297268:p.Ala260Asp	HNSCC(75;0.22)					p.A260D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	1250	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		260					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.779C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741631	0.69304	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94376	-3.41	5.72	5.72	0.89469	.	0.114600	0.64402	D	0.000020	D	0.91680	0.7370	N	0.17082	0.46	0.58432	D	0.999999	P	0.51791	0.948	P	0.51701	0.677	D	0.91349	0.5103	10	0.41790	T	0.15	.	20.269	0.98464	0.0:1.0:0.0:0.0	.	260	P08123	CO1A2_HUMAN	D	260;261	ENSP00000297268:A260D	ENSP00000297268:A260D	A	+	2	0	COL1A2	93876058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.831000	0.62752	2.878000	0.98634	0.650000	0.86243	GCC		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		7	63	1	0	1.26484e-09	0.038147	1.42385e-09	7	63				
GIMAP6	474344	broad.mit.edu	37	7	150325295	150325295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:150325295G>A	ENST00000328902.5	-	3	607	c.391C>T	c.(391-393)Caa>Taa	p.Q131*	GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGTTGTGTCACCAGG	0.632																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(391-393)Caa>Taa		GTPase, IMAP family member 6							55.0	58.0	57.0					7																	150325295		2203	4300	6503	SO:0001587	stop_gained	474344						GTP binding	g.chr7:150325295G>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.391C>T	7.37:g.150325295G>A	ENSP00000330374:p.Gln131*					GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	p.Q131*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	607	-			131					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Nonsense_Mutation	SNP	ENST00000328902.5	37	c.391C>T	CCDS34778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.302471|3.302471	0.60195|0.60195	.|.	.|.	ENSG00000133561|ENSG00000133561	ENST00000328902;ENST00000392862|ENST00000493969	.|.	.|.	.|.	4.07|4.07	3.17|3.17	0.36434|0.36434	.|.	0.304555|.	0.31612|.	N|.	0.007360|.	.|T	.|0.45175	.|0.1329	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36768	.|-0.9734	.|5	0.25106|0.87932	T|D	0.35|0	.|.	9.5275|9.5275	0.39173|0.39173	0.0:0.2153:0.7847:0.0|0.0:0.2153:0.7847:0.0	.|.	.|.	.|.	.|.	X|I	131;192|56	.|.	ENSP00000330374:Q131X|ENSP00000418304:T56I	Q|T	-|-	1|2	0|0	GIMAP6|GIMAP6	149956228|149956228	0.000000|0.000000	0.05858|0.05858	0.726000|0.726000	0.30738|0.30738	0.221000|0.221000	0.24807|0.24807	0.669000|0.669000	0.25142|0.25142	0.911000|0.911000	0.36747|0.36747	0.561000|0.561000	0.74099|0.74099	CAA|ACA		0.632	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		17	89	0	0	0	0.033300	0	17	89				
USP32P2	220594	broad.mit.edu	37	17	18420772	18420772	+	RNA	SNP	G	G	A	rs28569074		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:18420772G>A	ENST00000425211.1	-	0	1705				USP32P2_ENST00000412260.1_RNA																							AATTGAAATCGCTTAAGGTGA	0.343																																						ENST00000425211.1																			0																																																			220594							g.chr17:18420772G>A																													17.37:g.18420772G>A														0	1705	-									RNA	SNP	ENST00000425211.1	37																																																																																						0.343	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473021.1			5	65	0	0	0	0.069234	0	5	65				
OR51A4	401666	broad.mit.edu	37	11	4967665	4967665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:4967665G>C	ENST00000380373.2	-	1	691	c.666C>G	c.(664-666)atC>atG	p.I222M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCTTGAGGATCAGGGTGT	0.433																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(664-666)atC>atG		olfactory receptor, family 51, subfamily A, member 4							94.0	81.0	85.0					11																	4967665		2200	4295	6495	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967665G>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.666C>G	11.37:g.4967665G>C	ENSP00000369731:p.Ile222Met					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.I222M	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	691	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	222						Missense_Mutation	SNP	ENST00000380373.2	37	c.666C>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578467	0.28180	.	.	ENSG00000205497	ENST00000380373	T	0.55930	0.49	3.44	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74520	0.3727	H	0.97465	4.01	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62793	-0.6779	9	0.87932	D	0	.	0.5019	0.00581	0.2664:0.1381:0.3171:0.2783	.	222	Q8NGJ6	O51A4_HUMAN	M	222	ENSP00000369731:I222M	ENSP00000369731:I222M	I	-	3	3	OR51A4	4924241	0.000000	0.05858	0.005000	0.12908	0.722000	0.41435	-2.033000	0.01425	-0.440000	0.07211	0.479000	0.44913	ATC		0.433	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		23	13	0	0	0	0.076483	0	23	13				
PCDHGA4	56111	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T	rs375047889		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(193-195)Cgc>Tgc				C	,,,CYS/ARG,,CYS/ARG	2,4384		0,2,2191	54.0	66.0	62.0		,,,193,,193	5.7	1.0	5		62	0,8600		0,0,4300	no	intron,intron,intron,missense,intron,missense	PCDHGB1,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018922.2,NM_032053.1	,,,180,,180	0,2,6491	TT,TC,CC		0.0,0.0456,0.0154	,,,,,	,,,65/932,,65/821	140734960	2,12984	2193	4300	6493	SO:0001583	missense	56111							g.chr5:140734960C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.193C>T	5.37:g.140734960C>T	ENSP00000458570:p.Arg65Cys					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R65C	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	193	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.193C>T	CCDS58979.1																																																																																				0.647	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		51	23	0	0	0	0.139131	0	51	23				
MIR519A2	574500	broad.mit.edu	37	19	54265626	54265626	+	lincRNA	SNP	C	C	T	rs142071806	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:54265626C>T	ENST00000384990.1	+	0	29				RNU6-1041P_ENST00000516254.1_RNA|MIR516A2_ENST00000384888.1_RNA	NR_030222.1				microRNA 519a-2																		TACAGGGAAGCGCTTTCTGTT	0.408													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		19735	0.0		0.0	False		,,,				2504	0.0					ENST00000384990.1																			0															C		1,3135		0,1,1567	181.0	160.0	166.0			0.5	0.0	19	dbSNP_134	166	0,7164		0,0,3582	no	intergenic				0,1,5149	TT,TC,CC		0.0,0.0319,0.0097			54265626	1,10299	1568	3582	5150			574500							g.chr19:54265626C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54265626C>T								NR_030222.1						0	29	+									RNA	SNP	ENST00000384990.1	37																																																																																						0.408	MIR519A2-201	KNOWN	basic	miRNA	lincRNA		NR_030222		65	60	0	0	0	0.139131	0	65	60				
FOXR2	139628	broad.mit.edu	37	X	55650824	55650824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:55650824C>T	ENST00000339140.3	+	1	992	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	227					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAGCATTTCCCCTTTTTCTGG	0.498																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(679-681)cCc>cTc		forkhead box R2							81.0	79.0	79.0					X																	55650824		2203	4300	6503	SO:0001583	missense	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650824C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.680C>T	X.37:g.55650824C>T	ENSP00000427329:p.Pro227Leu						p.P227L	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	992	+			227						Missense_Mutation	SNP	ENST00000339140.3	37	c.680C>T	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	C	9.575	1.122145	0.20877	.	.	ENSG00000189299	ENST00000339140	D	0.96913	-4.17	3.57	0.835	0.18886	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.77712	2.385	0.80722	D	1	D	0.54207	0.965	P	0.52881	0.712	D	0.93686	0.7003	10	0.59425	D	0.04	.	7.6325	0.28247	0.0:0.7432:0.0:0.2568	.	227	Q6PJQ5	FOXR2_HUMAN	L	227	ENSP00000427329:P227L	ENSP00000427329:P227L	P	+	2	0	FOXR2	55667549	0.993000	0.37304	0.005000	0.12908	0.403000	0.30841	2.777000	0.47717	0.045000	0.15804	0.600000	0.82982	CCC		0.498	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		52	7	0	0	0	0.139131	0	52	7				
SLC6A4	6532	broad.mit.edu	37	17	28534763	28534763	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:28534763G>C	ENST00000401766.2	-	12	2149	c.1637C>G	c.(1636-1638)cCt>cGt	p.P546R	RP11-354P11.4_ENST00000581633.1_RNA|SLC6A4_ENST00000261707.3_Missense_Mutation_p.P546R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	546					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GAGAAACAGAGGGCTGATGGC	0.562																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(1636-1638)cCt>cGt		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						88.0	77.0	80.0					17																	28534763		2203	4300	6503	SO:0001583	missense	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28534763G>C	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1637C>G	17.37:g.28534763G>C	ENSP00000385822:p.Pro546Arg					SLC6A4_ENST00000261707.3_Missense_Mutation_p.P546R	p.P546R			P31645	SC6A4_HUMAN			12	2149	-			546					Q5EE02	Missense_Mutation	SNP	ENST00000401766.2	37	c.1637C>G	CCDS11256.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961545	0.92791	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	D;D	0.91351	-2.83;-2.83	5.64	5.64	0.86602	.	0.051555	0.85682	D	0.000000	D	0.97424	0.9157	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98630	1.0671	10	0.87932	D	0	.	18.6792	0.91540	0.0:0.0:1.0:0.0	.	546	P31645	SC6A4_HUMAN	R	588;546;546	ENSP00000385822:P546R;ENSP00000261707:P546R	ENSP00000261707:P546R	P	-	2	0	SLC6A4	25558889	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.869000	0.99810	2.665000	0.90641	0.591000	0.81541	CCT		0.562	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		13	32	0	0	0	0.146539	0	13	32				
SH3GL1	6455	broad.mit.edu	37	19	4365608	4365608	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:4365608G>A	ENST00000269886.3	-	4	380	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Silent_p.L68L|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	68	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGCATGGTCAGCTTAGCCCGC	0.662			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(202-204)Ctg>Ttg		SH3-domain GRB2-like 1							83.0	85.0	84.0					19																	4365608		2203	4300	6503	SO:0001819	synonymous_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4365608G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.202C>T	19.37:g.4365608G>A						SH3GL1_ENST00000417295.2_Intron|SH3GL1_ENST00000598564.1_Silent_p.L68L	p.L68L	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	4	380	-			68			BAR.|Required for dimerization upon membrane association (By similarity).		B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	c.202C>T	CCDS32874.1																																																																																				0.662	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		40	47	0	0	0	0.111260	0	40	47				
RBP3	5949	broad.mit.edu	37	10	48388214	48388214	+	Silent	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:48388214G>T	ENST00000224600.4	-	1	2777	c.2664C>A	c.(2662-2664)ccC>ccA	p.P888P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	888	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ATGCATATAAGGGGCTGCTGC	0.647																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2662-2664)ccC>ccA		retinol binding protein 3, interstitial	Vitamin A(DB00162)						45.0	43.0	44.0					10																	48388214		2203	4299	6502	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388214G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2664C>A	10.37:g.48388214G>T							p.P888P	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2777	-			888			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.2664C>A	CCDS7218.1																																																																																				0.647	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		18	13	1	0	6.94344e-10	0.038395	7.86125e-10	18	13				
MUC17	140453	broad.mit.edu	37	7	100676474	100676474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100676474A>G	ENST00000306151.4	+	3	1841	c.1777A>G	c.(1777-1779)Act>Gct	p.T593A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	593	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCAACAACTCCTGCTGA	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1777-1779)Act>Gct		mucin 17, cell surface associated							243.0	246.0	245.0					7																	100676474		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676474A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1777A>G	7.37:g.100676474A>G	ENSP00000302716:p.Thr593Ala						p.T593A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1841	+	Lung NSC(181;0.136)|all_lung(186;0.182)		593			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1777A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.185	-0.167096	0.06461	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	1.33	-0.0314	0.13910	.	.	.	.	.	T	0.00845	0.0028	N	0.03608	-0.345	0.09310	N	1	P	0.48911	0.917	B	0.35899	0.213	T	0.43393	-0.9394	9	0.09843	T	0.71	.	5.5608	0.17142	0.7178:0.2822:0.0:0.0	.	593	Q685J3	MUC17_HUMAN	A	593	ENSP00000302716:T593A	ENSP00000302716:T593A	T	+	1	0	MUC17	100463194	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	-0.121000	0.10643	0.011000	0.14865	0.324000	0.21423	ACT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	665	0	0	0	0.038147	0	8	665				
PCF11	51585	broad.mit.edu	37	11	82881002	82881002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:82881002C>A	ENST00000298281.4	+	8	4077	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1209					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TATACCTGCTCCAATGACAGT	0.348																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(3625-3627)Cca>Aca		PCF11 cleavage and polyadenylation factor subunit							16.0	16.0	16.0					11																	82881002		1827	4065	5892	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82881002C>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3625C>A	11.37:g.82881002C>A	ENSP00000298281:p.Pro1209Thr						p.P1209T	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	4077	+			1209					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3625C>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791301	0.50102	.	.	ENSG00000165494	ENST00000298281	T	0.27104	1.69	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000015	T	0.19805	0.0476	L	0.27053	0.805	0.38611	D	0.950896	B	0.30068	0.267	B	0.28139	0.086	T	0.07908	-1.0748	9	.	.	.	-10.4054	16.3795	0.83443	0.0:1.0:0.0:0.0	.	1209	O94913	PCF11_HUMAN	T	1209	ENSP00000298281:P1209T	.	P	+	1	0	PCF11	82558650	0.879000	0.30193	0.977000	0.42913	0.981000	0.71138	1.103000	0.31062	2.941000	0.99782	0.655000	0.94253	CCA		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		12	14	1	0	3.07112e-06	0.080935	3.37994e-06	12	14				
ANK3	288	broad.mit.edu	37	10	61819590	61819590	+	Intron	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:61819590G>T	ENST00000280772.2	-	41	12787				ANK3_ENST00000503366.1_Missense_Mutation_p.S1645Y|ANK3_ENST00000355288.2_Missense_Mutation_p.S778Y|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000373827.2_Missense_Mutation_p.S1638Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCATCTGCGGAATGCTCTAT	0.468																																						ENST00000373827.2																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4912-4914)tCc>tAc		ankyrin 3, node of Ranvier (ankyrin G)							132.0	124.0	127.0					10																	61819590		2203	4300	6503	SO:0001627	intron_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61819590G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12596-402C>A	10.37:g.61819590G>T						ANK3_ENST00000280772.1_Intron|ANK3_ENST00000503366.1_Missense_Mutation_p.S1645Y|ANK3_ENST00000355288.2_Missense_Mutation_p.S778Y|RP11-388P9.2_ENST00000414383.1_RNA	p.S1638Y	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN			40	5083	-			3705			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4913C>A	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247203|2.247203	0.39697|0.39697	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197|ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|T;T;T;T	.|0.58506	.|0.33;0.33;0.33;0.33	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|.	.|.	.|.	.|.	T|T	0.41328|0.41328	0.1154|0.1154	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B;B	.|0.34934	.|0.476;0.214;0.104;0.32;0.214;0.155	.|B;B;B;B;B;B	.|0.31101	.|0.078;0.058;0.037;0.124;0.058;0.069	T|T	0.48833|0.48833	-0.9000|-0.9000	5|9	.|0.72032	.|D	.|0.01	.|.	19.9961|19.9961	0.97386|0.97386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1645;778;1638;879;778;177	.|E9PE32;A8KA62;Q5CZH9;F5GXK0;B1AQT2;B1AQT0	.|.;.;.;.;.;.	T|Y	160|1638;236;778;778;1645;1624;879	.|ENSP00000362933:S1638Y;ENSP00000362926:S236Y;ENSP00000347436:S778Y;ENSP00000425236:S1645Y	.|ENSP00000347436:S778Y	P|S	-|-	1|2	0|0	ANK3|ANK3	61489596|61489596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.821000|0.821000	0.46438|0.46438	4.957000|4.957000	0.63652|0.63652	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	CCG|TCC		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		50	19	1	0	6.87076e-12	0.139131	7.91544e-12	50	19				
ADAMTSL3	57188	broad.mit.edu	37	15	84582032	84582032	+	Missense_Mutation	SNP	C	C	A	rs200247659		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:84582032C>A	ENST00000286744.5	+	16	2113	c.1889C>A	c.(1888-1890)gCc>gAc	p.A630D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	630						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGAGCCCGGCCTCCCGAGAG	0.612																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1888-1890)gCc>gAc		ADAMTS-like 3							52.0	48.0	50.0					15																	84582032		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582032C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1889C>A	15.37:g.84582032C>A	ENSP00000286744:p.Ala630Asp					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2113	+			630					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1889C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.327000	0.01309	.	.	ENSG00000156218	ENST00000286744	T	0.64618	-0.11	4.38	-1.62	0.08372	.	1.688900	0.03234	N	0.179392	T	0.42200	0.1192	N	0.19112	0.55	0.09310	N	1	B;B	0.24823	0.0;0.112	B;B	0.22386	0.008;0.039	T	0.12016	-1.0564	10	0.12430	T	0.62	.	5.2487	0.15510	0.1543:0.2586:0.0:0.5871	.	630;630	P82987-2;P82987	.;ATL3_HUMAN	D	630	ENSP00000286744:A630D	ENSP00000286744:A630D	A	+	2	0	ADAMTSL3	82373036	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.503000	0.22610	-0.552000	0.06167	-0.251000	0.11542	GCC		0.612	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		58	14	1	0	6.60958e-23	0.139131	8.29355e-23	58	14				
CD300E	342510	broad.mit.edu	37	17	72613588	72613588	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:72613588C>T	ENST00000328630.3	-	2	97	c.57G>A	c.(55-57)aaG>aaA	p.K19K	CD300E_ENST00000426295.2_Silent_p.K60K|CD300E_ENST00000392619.1_Silent_p.K46K			Q496F6	CLM2_HUMAN	CD300e molecule	19	Ig-like V-type.		K -> T (in dbSNP:rs581157). {ECO:0000269|PubMed:15557162}.		innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGGGCCCTTCAGAGACA	0.552																																						ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(136-138)aaG>aaA		CD300e molecule							44.0	38.0	40.0					17																	72613588		2203	4300	6503	SO:0001819	synonymous_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613588C>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.57G>A	17.37:g.72613588C>T						CD300E_ENST00000328630.3_Silent_p.K19K|CD300E_ENST00000426295.2_Silent_p.K60K	p.K46K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			2	173	-			19			Ig-like V-type.		B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	c.138G>A	CCDS11702.1																																																																																				0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		25	18	0	0	0	0.091800	0	25	18				
KIF21B	23046	broad.mit.edu	37	1	200967679	200967679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:200967679G>A	ENST00000422435.2	-	14	2226	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000332129.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	637					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCAGGTCGGCCAGGTCCGC	0.587																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1909-1911)gCc>gTc		kinesin family member 21B							77.0	72.0	74.0					1																	200967679		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967679G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1910C>T	1.37:g.200967679G>A	ENSP00000411831:p.Ala637Val					KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	p.A637V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			14	2226	-			637					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1910C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376397	0.95945	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.17	5.17	0.71159	.	0.122077	0.56097	D	0.000037	T	0.60287	0.2257	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.997;0.998	D;D;D;D	0.80764	0.985;0.994;0.985;0.994	T	0.62732	-0.6792	10	0.42905	T	0.14	.	18.7216	0.91697	0.0:0.0:1.0:0.0	.	637;637;637;637	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	637	ENSP00000328494:A637V;ENSP00000353724:A637V;ENSP00000433808:A637V;ENSP00000411831:A637V	ENSP00000328494:A637V	A	-	2	0	KIF21B	199234302	1.000000	0.71417	0.955000	0.39395	0.899000	0.52679	9.416000	0.97383	2.408000	0.81797	0.555000	0.69702	GCC		0.587	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		31	44	0	0	0	0.059317	0	31	44				
HYAL4	23553	broad.mit.edu	37	7	123508362	123508362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:123508362G>A	ENST00000223026.4	+	3	673	c.35G>A	c.(34-36)tGt>tAt	p.C12Y	HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	12					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTAAAGCTTTGTGTTGTTCAA	0.348																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(34-36)tGt>tAt		hyaluronoglucosaminidase 4							122.0	129.0	127.0					7																	123508362		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508362G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.35G>A	7.37:g.123508362G>A	ENSP00000223026:p.Cys12Tyr					HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	673	+			12					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.35G>A	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.847951	0.00568	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.16196	2.36;2.36	5.2	-0.349	0.12609	.	0.441173	0.24452	N	0.038401	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32107	-0.9919	10	0.25106	T	0.35	-1.549	4.6648	0.12660	0.5537:0.0:0.2811:0.1652	.	12;12	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	Y	12	ENSP00000223026:C12Y;ENSP00000417186:C12Y	ENSP00000223026:C12Y	C	+	2	0	HYAL4	123295598	0.000000	0.05858	0.444000	0.26895	0.062000	0.15995	-0.578000	0.05841	0.048000	0.15891	-0.140000	0.14226	TGT		0.348	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		42	75	0	0	0	0.111260	0	42	75				
NELL2	4753	broad.mit.edu	37	12	44917184	44917184	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:44917184A>T	ENST00000429094.2	-	17	2392	c.1888T>A	c.(1888-1890)Tgt>Agt	p.C630S	NELL2_ENST00000395487.2_Missense_Mutation_p.C629S|NELL2_ENST00000549027.1_Missense_Mutation_p.C629S|NELL2_ENST00000551601.1_Missense_Mutation_p.C582S|NELL2_ENST00000437801.2_Missense_Mutation_p.C680S|NELL2_ENST00000452445.2_Missense_Mutation_p.C630S|NELL2_ENST00000333837.4_Missense_Mutation_p.C653S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	630	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATGAGGACATCGACAATCA	0.448																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1888-1890)Tgt>Agt		NEL-like 2 (chicken)							148.0	140.0	143.0					12																	44917184		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44917184A>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1888T>A	12.37:g.44917184A>T	ENSP00000390680:p.Cys630Ser					NELL2_ENST00000452445.2_Missense_Mutation_p.C630S|NELL2_ENST00000437801.2_Missense_Mutation_p.C680S|NELL2_ENST00000551601.1_Missense_Mutation_p.C582S|NELL2_ENST00000395487.2_Missense_Mutation_p.C629S|NELL2_ENST00000549027.1_Missense_Mutation_p.C629S|NELL2_ENST00000333837.4_Missense_Mutation_p.C653S	p.C630S	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	17	2392	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	630			EGF-like 6; calcium-binding (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.1888T>A	CCDS8746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.9|29.9	5.045051|5.045051	0.93685|0.93685	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801|ENST00000550139	D;D;D;D;D;D;D|.	0.99709|.	-5.73;-5.73;-5.89;-5.73;-5.73;-6.48;-5.73|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88489|0.88489	0.6450|0.6450	H|H	0.97732|0.97732	4.065|4.065	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.993;1.0;0.997;0.979;1.0|.	D;D;D;P;D|.	0.79108|.	0.977;0.985;0.933;0.747;0.992|.	D|D	0.92495|0.92495	0.6003|0.6003	10|5	0.72032|.	D|.	0.01|.	-10.565|-10.565	16.1965|16.1965	0.82029|0.82029	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	653;680;582;630;629|.	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2|.	.;.;.;NELL2_HUMAN;.|.	S|K	629;630;582;630;629;653;680|42	ENSP00000378866:C629S;ENSP00000390680:C630S;ENSP00000449332:C582S;ENSP00000394612:C630S;ENSP00000447927:C629S;ENSP00000327988:C653S;ENSP00000416341:C680S|.	ENSP00000327988:C653S|.	C|M	-|-	1|2	0|0	NELL2|NELL2	43203451|43203451	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.992000|0.992000	0.81027|0.81027	9.331000|9.331000	0.96430|0.96430	2.221000|2.221000	0.72209|0.72209	0.523000|0.523000	0.50628|0.50628	TGT|ATG		0.448	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		30	92	0	0	0	0.116897	0	30	92				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	119	0	0	0	0.115264	0	3	119				
DCAF4	26094	broad.mit.edu	37	14	73404779	73404779	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:73404779G>A	ENST00000358377.2	+	2	312		c.e2+1		DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000353777.3_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000510612.1_Splice_Site|DCAF4_ENST00000553457.1_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CTGAAGACAGGCAAGTGTGCC	0.527																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.e1+1		DDB1 and CUL4 associated factor 4							116.0	119.0	118.0					14																	73404779		2203	4300	6503	SO:0001630	splice_region_variant	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73404779G>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.92+1G>A	14.37:g.73404779G>A						DCAF4_ENST00000510612.1_Splice_Site|DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000353777.3_Splice_Site|DCAF4_ENST00000509153.1_Splice_Site|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000555042.1_Splice_Site				Q8WV16	DCAF4_HUMAN			1	82	+								B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Splice_Site	SNP	ENST00000358377.2	37		CCDS9809.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912984	0.33815	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0025	0.58683	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF4	72474532	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	4.489000	0.60309	2.132000	0.65825	0.313000	0.20887	.		0.527	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604	Intron	64	33	0	0	0	0.139131	0	64	33				
ADCY1	107	broad.mit.edu	37	7	45614734	45614734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:45614734G>T	ENST00000297323.7	+	1	614	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	198					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCACTTGCTGGTCACAGCCAC	0.642																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(592-594)Gtc>Ttc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						21.0	20.0	20.0					7																	45614734		2196	4283	6479	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45614734G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.592G>T	7.37:g.45614734G>T	ENSP00000297323:p.Val198Phe					ADCY1_ENST00000432715.1_5'UTR	p.V198F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			1	614	+			198					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.592G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677590	0.47886	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.81996	-1.56	3.7	2.81	0.32909	.	0.000000	0.64402	D	0.000003	T	0.79399	0.4439	M	0.61703	1.905	0.51767	D	0.999936	B	0.33841	0.428	B	0.37550	0.253	T	0.73962	-0.3817	10	0.35671	T	0.21	.	8.7711	0.34733	0.1156:0.0:0.8844:0.0	.	198	Q08828	ADCY1_HUMAN	F	198	ENSP00000297323:V198F	ENSP00000297323:V198F	V	+	1	0	ADCY1	45581259	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.705000	0.61838	0.738000	0.32606	0.205000	0.17691	GTC		0.642	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	27	1	0	2.5808e-16	0.038395	3.04441e-16	17	27				
LIG4	3981	broad.mit.edu	37	13	108861972	108861972	+	Missense_Mutation	SNP	T	T	A	rs563401216		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr13:108861972T>A	ENST00000356922.4	-	2	1917	c.1645A>T	c.(1645-1647)Att>Ttt	p.I549F	LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	549					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGGTTCAATGTATACTTCT	0.403								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1645-1647)Att>Ttt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							103.0	102.0	103.0					13																	108861972		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861972T>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1645A>T	13.37:g.108861972T>A	ENSP00000349393:p.Ile549Phe					LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F	p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1917	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		549					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1645A>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297656	0.60086	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.63580	-0.05;-0.05;-0.05	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69045	-0.5249	10	0.26408	T	0.33	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	549	P49917	DNLI4_HUMAN	F	549	ENSP00000385955:I549F;ENSP00000402030:I549F;ENSP00000349393:I549F	ENSP00000349393:I549F	I	-	1	0	LIG4	107659973	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	4.058000	0.57463	2.178000	0.69098	0.450000	0.29827	ATT		0.403	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		34	13	0	0	0	0.059317	0	34	13				
FAM102B	284611	broad.mit.edu	37	1	109170788	109170788	+	Splice_Site	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:109170788G>C	ENST00000370035.3	+	7	896		c.e7-1		FAM102B_ENST00000405454.1_Splice_Site	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B											autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACATATTACAGATCTTTCAGC	0.378																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.e7-1		family with sequence similarity 102, member B							84.0	78.0	80.0					1																	109170788		2203	4300	6503	SO:0001630	splice_region_variant	284611							g.chr1:109170788G>C	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.557-1G>C	1.37:g.109170788G>C						FAM102B_ENST00000405454.1_Splice_Site		NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	7	896	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)						A1L1A1|B0QZ46|B0QZ47|Q68DH7	Splice_Site	SNP	ENST00000370035.3	37		CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591747	0.66219	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4997	0.95089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM102B	108972311	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.678000	0.91211	2.611000	0.88343	0.655000	0.94253	.		0.378	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883	Intron	25	10	0	0	0	0.091800	0	25	10				
BAGE2	85319	broad.mit.edu	37	21	11098870	11098870	+	RNA	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr21:11098870C>A	ENST00000470054.1	-	0	55							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)		ccaactcccccttctcctggt	0.622																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098870C>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.11098870C>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	55	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.622	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	14	1	0	5.50884e-06	0.093190	5.99581e-06	11	14				
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:18625006G>A	ENST00000432645.2	+	2	125	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(124-126)cGt>cAt		histone deacetylase 9	Valproic Acid(DB00313)						94.0	94.0	94.0					7																	18625006		1970	4179	6149	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18625006G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.125G>A	7.37:g.18625006G>A	ENSP00000410337:p.Arg42His					HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR	p.R42H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			3	275	+	all_lung(11;0.187)		42					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.125G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	HDAC9	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			48	87	0	0	0	0.139131	0	48	87				
OSBPL3	26031	broad.mit.edu	37	7	24874174	24874174	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:24874174G>A	ENST00000313367.2	-	15	2128	c.1677C>T	c.(1675-1677)ctC>ctT	p.L559L	OSBPL3_ENST00000396429.1_Silent_p.L523L|OSBPL3_ENST00000409069.1_Silent_p.L492L|OSBPL3_ENST00000396431.1_Silent_p.L528L|OSBPL3_ENST00000352860.1_Silent_p.L528L|OSBPL3_ENST00000353930.1_Silent_p.L523L|OSBPL3_ENST00000431825.2_Silent_p.L492L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	559					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCTCCTCGCAGAGCCTCTGCA	0.617																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1675-1677)ctC>ctT		oxysterol binding protein-like 3							76.0	69.0	72.0					7																	24874174		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24874174G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1677C>T	7.37:g.24874174G>A						OSBPL3_ENST00000431825.2_Silent_p.L492L|OSBPL3_ENST00000352860.1_Silent_p.L528L|OSBPL3_ENST00000396431.1_Silent_p.L528L|OSBPL3_ENST00000409069.1_Silent_p.L492L|OSBPL3_ENST00000396429.1_Silent_p.L523L|OSBPL3_ENST00000353930.1_Silent_p.L523L	p.L559L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			15	2128	-			559					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.1677C>T	CCDS5390.1																																																																																				0.617	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			44	68	0	0	0	0.139131	0	44	68				
CDK13	8621	broad.mit.edu	37	7	40037230	40037230	+	Missense_Mutation	SNP	C	C	G	rs34775357	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:40037230C>G	ENST00000181839.4	+	3	2614	c.2009C>G	c.(2008-2010)aCa>aGa	p.T670R	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T670R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	670			T -> R (in dbSNP:rs34775357). {ECO:0000269|PubMed:17344846}.		alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.T670R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GAAAAGAAAACAGCAACACAG	0.433													C|||	8	0.00159744	0.0	0.0029	5008	,	,		15171	0.0		0.005	False		,,,				2504	0.001					ENST00000181839.4																			1	Substitution - Missense(1)	p.T670R(1)	lung(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2008-2010)aCa>aGa		cyclin-dependent kinase 13		C	ARG/THR,ARG/THR	3,4403	6.2+/-15.9	0,3,2200	124.0	131.0	128.0		2009,2009	4.9	1.0	7	dbSNP_126	128	54,8546	34.3+/-88.2	2,50,4248	yes	missense,missense	CDK13	NM_003718.4,NM_031267.3	71,71	2,53,6448	GG,GC,CC		0.6279,0.0681,0.4383	possibly-damaging,possibly-damaging	670/1513,670/1453	40037230	57,12949	2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40037230C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2009C>G	7.37:g.40037230C>G	ENSP00000181839:p.Thr670Arg					CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T670R	p.T670R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			3	2614	+			670		T -> R (in dbSNP:rs34775357).			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2009C>G	CCDS5461.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	15.33	2.802065	0.50315	6.81E-4	0.006279	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70516	-0.49;-0.46	4.94	4.94	0.65067	.	.	.	.	.	T	0.56247	0.1972	L	0.50333	1.59	0.31811	N	0.627174	B;P;P	0.44195	0.262;0.828;0.788	B;B;B	0.39660	0.147;0.221;0.306	T	0.68078	-0.5504	8	.	.	.	-2.2586	11.6457	0.51259	0.0:0.9165:0.0:0.0835	rs34775357	56;670;670	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	R	670	ENSP00000181839:T670R;ENSP00000340557:T670R	.	T	+	2	0	CDK13	40003755	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.191000	0.50981	2.440000	0.82611	0.591000	0.81541	ACA		0.433	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		3	123	0	0	0	0.115264	0	3	123				
SNHG14	104472715	broad.mit.edu	37	15	25444646	25444646	+	RNA	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:25444646A>T	ENST00000424208.1	+	0	1811				SNORD115-17_ENST00000364612.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGACTTAAAAATCATGCTCA	0.478																																						ENST00000424208.1																			0																				397.0	410.0	406.0					15																	25444646		876	1989	2865			104472715							g.chr15:25444646A>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25444646A>T						SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	1811	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.478	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	348	0	0	0	0.047766	0	7	348				
HIST1H2AE	3012	broad.mit.edu	37	6	26217266	26217266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr6:26217266G>A	ENST00000303910.2	+	1	102	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TTCTTCCAGGGCCGGTCTTCA	0.577																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(64-66)Gcc>Acc		histone cluster 1, H2ae							64.0	55.0	58.0					6																	26217266		2203	4299	6502	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217266G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.64G>A	6.37:g.26217266G>A	ENSP00000303373:p.Ala22Thr						p.A22T	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	102	+		all_hematologic(11;0.196)	22					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.64G>A	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626197	0.28978	.	.	ENSG00000168274	ENST00000303910	T	0.70282	-0.47	3.99	3.99	0.46301	.	0.000000	0.33753	U	0.004593	D	0.83138	0.5189	M	0.90145	3.09	0.52099	D	0.999944	.	.	.	.	.	.	D	0.87294	0.2301	8	0.87932	D	0	.	15.5885	0.76506	0.0:0.0:1.0:0.0	.	.	.	.	T	22	ENSP00000303373:A22T	ENSP00000303373:A22T	A	+	1	0	HIST1H2AE	26325245	1.000000	0.71417	0.529000	0.27951	0.025000	0.11179	9.415000	0.97375	2.219000	0.72066	0.591000	0.81541	GCC		0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		22	12	0	0	0	0.055883	0	22	12				
PADI4	23569	broad.mit.edu	37	1	17668883	17668883	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:17668883G>A	ENST00000375448.4	+	8	947	c.921G>A	c.(919-921)gaG>gaA	p.E307E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	307					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCGCAGGAGGTGTACGCGT	0.632																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(919-921)gaG>gaA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						39.0	38.0	38.0					1																	17668883		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668883G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.921G>A	1.37:g.17668883G>A						AC004824.2_ENST00000602074.1_Intron	p.E307E	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	8	947	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	307					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.921G>A	CCDS180.1																																																																																				0.632	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		15	7	0	0	0	0.146539	0	15	7				
THEM5	284486	broad.mit.edu	37	1	151820766	151820766	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:151820766A>C	ENST00000368817.5	-	4	598	c.467T>G	c.(466-468)tTt>tGt	p.F156C	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	156					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGAGCAAACCTGGGGGT	0.602																																						ENST00000368817.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(466-468)tTt>tGt		thioesterase superfamily member 5							38.0	41.0	40.0					1																	151820766		2203	4300	6503	SO:0001583	missense	284486						hydrolase activity	g.chr1:151820766A>C	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.467T>G	1.37:g.151820766A>C	ENSP00000357807:p.Phe156Cys					AL450992.2_ENST00000434182.1_RNA	p.F156C	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	598	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		156					Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	c.467T>G	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.25|12.25	1.880270|1.880270	0.33162|0.33162	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.22945|.	1.93|.	5.14|5.14	4.0|4.0	0.46444|0.46444	Thioesterase superfamily (1);|.	0.332930|.	0.32244|.	N|.	0.006375|.	T|T	0.32971|0.32971	0.0847|0.0847	L|L	0.58302|0.58302	1.8|1.8	0.30014|0.30014	N|N	0.814957|0.814957	B|.	0.18461|.	0.028|.	B|.	0.22386|.	0.039|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.42905|.	T|.	0.14|.	-13.0074|-13.0074	9.0539|9.0539	0.36394|0.36394	0.8139:0.1861:0.0:0.0|0.8139:0.1861:0.0:0.0	.|.	156|.	Q8N1Q8|.	THEM5_HUMAN|.	C|V	156|103	ENSP00000357807:F156C|.	ENSP00000357807:F156C|.	F|L	-|-	2|1	0|2	THEM5|THEM5	150087390|150087390	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.671000|0.671000	0.39405|0.39405	0.943000|0.943000	0.29030|0.29030	0.800000|0.800000	0.34041|0.34041	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.602	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		13	26	0	0	0	0.083992	0	13	26				
TTC39C	125488	broad.mit.edu	37	18	21703803	21703803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:21703803C>T	ENST00000317571.3	+	9	1428	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	TTC39C_ENST00000540918.2_Nonsense_Mutation_p.Q91*|RNU5A-6P_ENST00000384136.1_RNA|RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	398										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TACAGTTTGTCAGGGAGCCAC	0.368																																						ENST00000540918.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(271-273)Cag>Tag		tetratricopeptide repeat domain 39C							54.0	52.0	53.0					18																	21703803		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21703803C>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1192C>T	18.37:g.21703803C>T	ENSP00000323645:p.Gln398*					TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*	p.Q91*			Q8N584	TT39C_HUMAN			4	521	+			398					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.271C>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045432	0.97231	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	.	.	.	X	337;398;91	.	ENSP00000306598:Q337X	Q	+	1	0	TTC39C	19957801	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.487000	0.81328	2.831000	0.97527	0.655000	0.94253	CAG		0.368	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	22	0	0	0	0.105934	0	12	22				
OR4C6	219432	broad.mit.edu	37	11	55432771	55432771	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55432771T>C	ENST00000314259.3	+	1	158	c.129T>C	c.(127-129)atT>atC	p.I43I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTACTTATTGTGGTAACTA	0.408																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(127-129)atT>atC		olfactory receptor, family 4, subfamily C, member 6							258.0	232.0	241.0					11																	55432771		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432771T>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.129T>C	11.37:g.55432771T>C							p.I43I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	158	+			43					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.129T>C	CCDS31506.1																																																																																				0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		82	66	0	0	0	0.139131	0	82	66				
TOP3B	8940	broad.mit.edu	37	22	22318364	22318364	+	Missense_Mutation	SNP	G	G	A	rs143308485	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr22:22318364G>A	ENST00000398793.2	-	11	1569	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	TOP3B_ENST00000357179.5_Missense_Mutation_p.R379W|TOP3B_ENST00000413067.2_Missense_Mutation_p.R108W	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	379					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGGCCTTTCCGCGGGCGGTTG	0.607													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17740	0.0		0.0	False		,,,				2504	0.0					ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1135-1137)Cgg>Tgg		topoisomerase (DNA) III beta		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	68.0	68.0		1135	1.3	1.0	22	dbSNP_134	68	34,8566	24.0+/-70.4	0,34,4266	yes	missense	TOP3B	NM_003935.3	101	0,35,6468	AA,AG,GG		0.3953,0.0227,0.2691	probably-damaging	379/863	22318364	35,12971	2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22318364G>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1135C>T	22.37:g.22318364G>A	ENSP00000381773:p.Arg379Trp					TOP3B_ENST00000413067.2_Missense_Mutation_p.R108W|TOP3B_ENST00000357179.5_Missense_Mutation_p.R379W	p.R379W	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	11	1569	-	Colorectal(54;0.105)		379					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1135C>T	CCDS13797.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	14.21	2.467574	0.43839	2.27E-4	0.003953	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.22134	1.97;1.97;1.97	4.71	1.32	0.21799	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.984	T	0.69109	-0.5232	10	0.87932	D	0	.	15.3116	0.74039	0.0:0.0:0.4261:0.5739	.	379;379	O95985;O95985-2	TOP3B_HUMAN;.	W	379;379;108	ENSP00000349705:R379W;ENSP00000381773:R379W;ENSP00000393118:R108W	ENSP00000349705:R379W	R	-	1	2	TOP3B	20648364	0.986000	0.35501	0.961000	0.40146	0.225000	0.24961	1.832000	0.39151	-0.051000	0.13334	-1.527000	0.00925	CGG		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		49	10	0	0	0	0.139131	0	49	10				
ARMCX5	64860	broad.mit.edu	37	X	101857639	101857639	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:101857639A>T	ENST00000604957.1	+	1	3192	c.570A>T	c.(568-570)gaA>gaT	p.E190D	ARMCX5_ENST00000246174.2_Missense_Mutation_p.E190D|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E190D|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000536530.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E190D|RP4-769N13.6_ENST00000476910.2_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	190										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCCTGAAGAAGAGACCTCTC	0.448																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(568-570)gaA>gaT		armadillo repeat containing, X-linked 5							126.0	129.0	128.0					X																	101857639		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857639A>T		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.570A>T	X.37:g.101857639A>T	ENSP00000474720:p.Glu190Asp					ARMCX5_ENST00000536530.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000541409.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000537008.1_Missense_Mutation_p.E190D|ARMCX5_ENST00000372742.1_Missense_Mutation_p.E190D|RP4-769N13.6_ENST00000476910.1_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.E190D	p.E190D	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3192	+			190					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.570A>T	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	A	10.40	1.340065	0.24339	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	3.59	2.4	0.29515	.	0.000000	0.43579	D	0.000557	T	0.22975	0.0555	L	0.29908	0.895	0.27658	N	0.947175	D	0.67145	0.996	D	0.68192	0.956	T	0.10337	-1.0634	10	0.08381	T	0.77	-12.1371	6.1136	0.20114	0.8589:0.0:0.1411:0.0	.	190	Q6P1M9	ARMX5_HUMAN	D	190	ENSP00000246174:E190D;ENSP00000439001:E190D;ENSP00000446385:E190D;ENSP00000445851:E190D;ENSP00000361827:E190D	ENSP00000246174:E190D	E	+	3	2	ARMCX5	101744295	1.000000	0.71417	0.992000	0.48379	0.982000	0.71751	1.371000	0.34250	0.566000	0.29273	0.486000	0.48141	GAA		0.448	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		74	12	0	0	0	0.139131	0	74	12				
ASNS	440	broad.mit.edu	37	7	97488686	97488686	+	Missense_Mutation	SNP	G	G	A	rs138299423		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:97488686G>A	ENST00000394309.3	-	5	983	c.512C>T	c.(511-513)gCg>gTg	p.A171V	ASNS_ENST00000422745.1_Missense_Mutation_p.A150V|ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000175506.4_Missense_Mutation_p.A171V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGGGAGTCGCGGAGTGCTT	0.368																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(511-513)gCg>gTg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	73.0	72.0		449,263,263,512,512,512	-6.0	0.0	7	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	ASNS	NM_001178075.1,NM_001178076.1,NM_001178077.1,NM_001673.4,NM_133436.3,NM_183356.3	64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	150/541,88/479,88/479,171/562,171/562,171/562	97488686	1,13005	2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488686G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.512C>T	7.37:g.97488686G>A	ENSP00000377846:p.Ala171Val					ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000422745.1_Missense_Mutation_p.A150V	p.A171V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			6	1040	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		171			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.512C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	1.962	-0.438607	0.04636	2.27E-4	0.0	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.47528	0.88;0.88;0.84;0.88;0.88;0.84;0.88;0.97	4.61	-5.96	0.02234	Glutamine amidotransferase, type II (1);	1.053790	0.07392	N	0.889216	T	0.27967	0.0689	L	0.35644	1.08	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.20605	-1.0270	10	0.16420	T	0.52	0.4036	4.3275	0.11046	0.5989:0.116:0.1679:0.1172	.	171	P08243	ASNS_HUMAN	V	171;171;88;171;150;88;150;171	ENSP00000175506:A171V;ENSP00000377846:A171V;ENSP00000414379:A88V;ENSP00000377845:A171V;ENSP00000414901:A150V;ENSP00000408472:A88V;ENSP00000406994:A150V;ENSP00000400422:A171V	ENSP00000175506:A171V	A	-	2	0	ASNS	97326622	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.486000	0.22340	-1.342000	0.02222	-1.174000	0.01732	GCG		0.368	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		39	63	0	0	0	0.080422	0	39	63				
VPS13D	55187	broad.mit.edu	37	1	12304644	12304644	+	Silent	SNP	C	C	A	rs34489138	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:12304644C>A	ENST00000358136.3	+	5	547	c.417C>A	c.(415-417)tcC>tcA	p.S139S	VPS13D_ENST00000356315.4_Silent_p.S139S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTACCGCCTCCGTAGTTACAA	0.413																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(415-417)tcC>tcA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							152.0	141.0	145.0					1																	12304644		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12304644C>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.417C>A	1.37:g.12304644C>A						VPS13D_ENST00000356315.4_Silent_p.S139S	p.S139S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	5	547	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	139						Silent	SNP	ENST00000358136.3	37	c.417C>A	CCDS30588.1																																																																																				0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		35	19	1	0	2.32173e-10	0.074837	2.6592e-10	35	19				
PROK1	84432	broad.mit.edu	37	1	110996644	110996644	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:110996644G>A	ENST00000271331.3	+	2	151	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	45					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGTGGCTTCGAGGGCTGCGG	0.622																																						ENST00000271331.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(133-135)cGa>cAa		prokineticin 1							51.0	46.0	48.0					1																	110996644		2203	4300	6503	SO:0001583	missense	84432				angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	g.chr1:110996644G>A	AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.134G>A	1.37:g.110996644G>A	ENSP00000271331:p.Arg45Gln						p.R45Q	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	151	+		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	45					Q5VWD4|Q8TC69	Missense_Mutation	SNP	ENST00000271331.3	37	c.134G>A	CCDS825.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415610	0.62511	.	.	ENSG00000143125	ENST00000271331	D	0.86497	-2.13	5.28	2.32	0.28847	Prokineticin domain (2);	0.197300	0.43416	D	0.000570	D	0.82527	0.5056	M	0.84846	2.72	0.28809	N	0.898341	P	0.52463	0.953	P	0.46629	0.522	T	0.77000	-0.2750	10	0.59425	D	0.04	.	7.9916	0.30244	0.1484:0.1319:0.7197:0.0	.	45	P58294	PROK1_HUMAN	Q	45	ENSP00000271331:R45Q	ENSP00000271331:R45Q	R	+	2	0	PROK1	110798167	0.994000	0.37717	0.099000	0.21106	0.360000	0.29518	4.514000	0.60482	0.288000	0.22398	-0.768000	0.03414	CGA		0.622	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031969.1	NM_032414		24	14	0	0	0	0.083992	0	24	14				
ISLR2	57611	broad.mit.edu	37	15	74425610	74425610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:74425610C>A	ENST00000361742.3	+	4	1284	c.515C>A	c.(514-516)gCg>gAg	p.A172E	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGCTTAGCGCGCTGTCACAC	0.667																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(514-516)gCg>gAg		immunoglobulin superfamily containing leucine-rich repeat 2							56.0	64.0	61.0					15																	74425610		2198	4293	6491	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425610C>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.515C>A	15.37:g.74425610C>A	ENSP00000355402:p.Ala172Glu					ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000561975.1_Intron	p.A172E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1284	+			172					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.515C>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458275	0.84317	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.46	4.46	0.54185	.	0.158495	0.42821	U	0.000650	T	0.65037	0.2653	L	0.35341	1.055	0.54753	D	0.999988	D	0.57257	0.979	D	0.63283	0.913	T	0.67952	-0.5537	10	0.51188	T	0.08	.	17.1202	0.86700	0.0:1.0:0.0:0.0	.	172	Q6UXK2	ISLR2_HUMAN	E	172	ENSP00000403244:A172E;ENSP00000355402:A172E;ENSP00000411443:A172E;ENSP00000411834:A172E;ENSP00000408872:A172E	ENSP00000355402:A172E	A	+	2	0	ISLR2	72212663	0.997000	0.39634	0.995000	0.50966	0.942000	0.58702	5.819000	0.69243	2.042000	0.60477	0.407000	0.27541	GCG		0.667	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		81	10	1	0	1.15773e-35	0.139131	1.53069e-35	81	10				
PPP2R5C	5527	broad.mit.edu	37	14	102391561	102391561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:102391561G>C	ENST00000334743.5	+	14	1575	c.1527G>C	c.(1525-1527)ttG>ttC	p.L509F	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.L540F	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	509					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGCCTTGGAAGCTCACT	0.637																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1618-1620)ttG>ttC		protein phosphatase 2, regulatory subunit B', gamma							70.0	79.0	76.0					14																	102391561		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391561G>C	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1527G>C	14.37:g.102391561G>C	ENSP00000333905:p.Leu509Phe					PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F	p.L540F	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1716	+			509					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1620G>C	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554685	0.96501	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.61980	0.08;0.44;0.08;0.41;0.06	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.991;0.991	D;D;D;D	0.78314	0.991;0.962;0.938;0.938	T	0.80500	-0.1355	10	0.41790	T	0.15	-4.7663	20.8794	0.99867	0.0:0.0:1.0:0.0	.	540;470;509;525	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	F	540;525;538;470;509	ENSP00000412324:L540F;ENSP00000329009:L525F;ENSP00000450931:L538F;ENSP00000262239:L470F;ENSP00000333905:L509F	ENSP00000329009:L525F	L	+	3	2	PPP2R5C	101461314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	2.941000	0.99782	0.655000	0.94253	TTG		0.637	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		64	27	0	0	0	0.139131	0	64	27				
ACBD3	64746	broad.mit.edu	37	1	226340302	226340302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:226340302G>C	ENST00000366812.5	-	7	1163	c.1109C>G	c.(1108-1110)gCa>gGa	p.A370G	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'Flank	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	370					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GGATGGAGCTGCTATTACTGG	0.448																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1108-1110)gCa>gGa		acyl-CoA binding domain containing 3							128.0	134.0	132.0					1																	226340302		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340302G>C	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1109C>G	1.37:g.226340302G>C	ENSP00000355777:p.Ala370Gly					RP11-275I14.4_ENST00000440540.1_RNA	p.A370G	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1163	-	Breast(184;0.158)		370					B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1109C>G	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260538	0.59431	.	.	ENSG00000182827	ENST00000366812	T	0.49139	0.79	5.29	5.29	0.74685	.	0.095927	0.64402	D	0.000001	T	0.61974	0.2390	M	0.80028	2.48	0.80722	D	1	P	0.45531	0.86	P	0.48304	0.573	T	0.66304	-0.5957	10	0.49607	T	0.09	-6.0584	18.9418	0.92608	0.0:0.0:1.0:0.0	.	370	Q9H3P7	GCP60_HUMAN	G	370	ENSP00000355777:A370G	ENSP00000355777:A370G	A	-	2	0	ACBD3	224406925	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	9.397000	0.97276	2.488000	0.83962	0.655000	0.94253	GCA		0.448	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		76	139	0	0	0	0.139131	0	76	139				
HECW1	23072	broad.mit.edu	37	7	43503399	43503399	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:43503399G>A	ENST00000395891.2	+	14	3396		c.e14+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCAGCTTAGGTATTGGAGGA	0.602																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.e14+1		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							112.0	118.0	116.0					7																	43503399		1988	4175	6163	SO:0001630	splice_region_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43503399G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2791+1G>A	7.37:g.43503399G>A						HECW1_ENST00000453890.1_Splice_Site		NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			14	3396	+								A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	ENST00000395891.2	37		CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788932	0.70337	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7781	0.57461	0.0748:0.0:0.9252:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43469924	1.000000	0.71417	0.996000	0.52242	0.792000	0.44763	5.133000	0.64764	2.603000	0.88011	0.655000	0.94253	.		0.602	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	Intron	61	82	0	0	0	0.139131	0	61	82				
ADAMTS19	171019	broad.mit.edu	37	5	128796153	128796153	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:128796153C>T	ENST00000274487.4	+	1	196	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ADAMTS19-AS1_ENST00000502827.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	17						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AGCTGGGGTTCCTGTCGAATG	0.622																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(49-51)ttC>ttT		ADAM metallopeptidase with thrombospondin type 1 motif, 19							205.0	188.0	194.0					5																	128796153		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128796153C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.51C>T	5.37:g.128796153C>T						ADAMTS19-AS1_ENST00000502827.1_RNA	p.F17F	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	1	196	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	17						Silent	SNP	ENST00000274487.4	37	c.51C>T	CCDS4146.1																																																																																				0.622	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		56	19	0	0	0	0.139131	0	56	19				
PON3	5446	broad.mit.edu	37	7	94996800	94996800	+	Splice_Site	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:94996800T>C	ENST00000265627.5	-	5	378	c.368A>G	c.(367-369)gAc>gGc	p.D123G	PON3_ENST00000451904.1_Splice_Site_p.D123G|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Splice_Site_p.D123G	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	123					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CACAGTATTGTCTACATGGAA	0.338																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.e5-1		paraoxonase 3							102.0	108.0	106.0					7																	94996800		2203	4300	6503	SO:0001630	splice_region_variant	5446							g.chr7:94996800T>C	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.368-1A>G	7.37:g.94996800T>C						PON3_ENST00000427422.1_Splice_Site_p.D123_splice|PON1_ENST00000542556.1_Intron	p.D123_splice	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		5	378	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Splice_Site	SNP	ENST00000265627.5	37	c.367_splice	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530276	0.27387	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.44482	0.92;0.92	4.78	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.89904	3.07	0.80722	D	1	D;B	0.89917	1.0;0.02	D;B	0.83275	0.996;0.019	T	0.76694	-0.2865	10	0.59425	D	0.04	.	14.4551	0.67411	0.0:0.0:0.0:1.0	.	171;123	B4E2I0;Q15166	.;PON3_HUMAN	G	123	ENSP00000265627:D123G;ENSP00000413276:D123G	ENSP00000265627:D123G	D	-	2	0	PON3	94834736	1.000000	0.71417	0.987000	0.45799	0.045000	0.14185	7.255000	0.78338	2.156000	0.67533	0.477000	0.44152	GAC		0.338	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	Missense_Mutation	85	63	0	0	0	0.139131	0	85	63				
CTC1	80169	broad.mit.edu	37	17	8138161	8138161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:8138161G>A	ENST00000315684.8	-	9	1530	c.1523C>T	c.(1522-1524)gCt>gTt	p.A508V	CTC1_ENST00000581671.1_5'Flank	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	508					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAGGGTAGGAGCCAGGAGTTG	0.567																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(1522-1524)gCt>gTt		CTS telomere maintenance complex component 1							90.0	97.0	95.0					17																	8138161		1972	4149	6121	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8138161G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.1523C>T	17.37:g.8138161G>A	ENSP00000313759:p.Ala508Val						p.A508V	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			9	1530	-			508					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.1523C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	g	13.66	2.303323	0.40795	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.85702	-2.02;-2.02	5.07	4.03	0.46877	.	0.356838	0.24587	N	0.037250	T	0.81317	0.4797	L	0.57536	1.79	0.35394	D	0.791042	P	0.36633	0.562	B	0.37888	0.26	T	0.83210	-0.0074	10	0.29301	T	0.29	-2.1473	10.6773	0.45794	0.0:0.1939:0.8061:0.0	.	508	Q2NKJ3	CTC1_HUMAN	V	508;473	ENSP00000313759:A508V;ENSP00000396018:A473V	ENSP00000313759:A508V	A	-	2	0	CTC1	8078886	1.000000	0.71417	0.981000	0.43875	0.701000	0.40568	1.398000	0.34554	2.390000	0.81377	0.502000	0.49764	GCT		0.567	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		51	84	0	0	0	0.139131	0	51	84				
NEURL2	140825	broad.mit.edu	37	20	44519288	44519288	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:44519288T>C	ENST00000372518.4	-	1	638	c.343A>G	c.(343-345)Atc>Gtc	p.I115V	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	115	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGCGCGTGATGGCGAAGACC	0.706																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(343-345)Atc>Gtc		neuralized E3 ubiquitin protein ligase 2							23.0	29.0	27.0					20																	44519288		2195	4293	6488	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519288T>C	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.343A>G	20.37:g.44519288T>C	ENSP00000361596:p.Ile115Val						p.I115V	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			1	638	-		Myeloproliferative disorder(115;0.0122)	115			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.343A>G	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394675	0.83011	.	.	ENSG00000124257	ENST00000372518	T	0.53206	0.63	4.83	4.83	0.62350	NEUZ (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	L	0.52206	1.635	0.58432	D	0.999999	D	0.58620	0.983	P	0.51516	0.672	T	0.51663	-0.8677	9	.	.	.	-26.668	14.5774	0.68258	0.0:0.0:0.0:1.0	.	115	Q9BR09	NEUL2_HUMAN	V	115	ENSP00000361596:I115V	.	I	-	1	0	NEURL2	43952695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.600000	0.67599	2.034000	0.60081	0.459000	0.35465	ATC		0.706	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			46	9	0	0	0	0.139131	0	46	9				
ARMC4	55130	broad.mit.edu	37	10	28270429	28270429	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:28270429T>C	ENST00000305242.5	-	7	994	c.902A>G	c.(901-903)aAa>aGa	p.K301R	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K158R|ARMC4_ENST00000545014.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	301					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTTGGTGATTTTTCTCTTAA	0.294																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(901-903)aAa>aGa		armadillo repeat containing 4							66.0	72.0	70.0					10																	28270429		2202	4289	6491	SO:0001583	missense	55130						binding	g.chr10:28270429T>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.902A>G	10.37:g.28270429T>C	ENSP00000306410:p.Lys301Arg					ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.K158R|ARMC4_ENST00000537576.1_5'UTR	p.K301R	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			7	994	-			301					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.902A>G	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743828	0.30865	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.52754	1.32;0.67;0.65	5.01	2.58	0.30949	.	0.215793	0.46442	D	0.000300	T	0.32823	0.0842	L	0.42245	1.32	0.34145	D	0.666823	B	0.25390	0.125	B	0.21917	0.037	T	0.30268	-0.9984	10	0.31617	T	0.26	-11.3627	4.3655	0.11222	0.1746:0.1495:0.0:0.676	.	301	Q5T2S8	ARMC4_HUMAN	R	301;195;158	ENSP00000306410:K301R;ENSP00000398155:K195R;ENSP00000239715:K158R	ENSP00000239715:K158R	K	-	2	0	ARMC4	28310435	0.997000	0.39634	0.972000	0.41901	0.794000	0.44872	0.703000	0.25646	0.831000	0.34780	0.533000	0.62120	AAA		0.294	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		42	9	0	0	0	0.092188	0	42	9				
GIT2	9815	broad.mit.edu	37	12	110427583	110427583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:110427583C>T	ENST00000355312.3	-	3	210	c.211G>A	c.(211-213)Ggt>Agt	p.G71S	GIT2_ENST00000361006.5_Missense_Mutation_p.G71S|GIT2_ENST00000320063.9_Missense_Mutation_p.G71S|GIT2_ENST00000338373.5_Missense_Mutation_p.G71S|GIT2_ENST00000356259.4_Missense_Mutation_p.G71S|GIT2_ENST00000457474.2_Missense_Mutation_p.G71S|GIT2_ENST00000551209.1_Missense_Mutation_p.G71S|GIT2_ENST00000547815.1_Missense_Mutation_p.G71S|GIT2_ENST00000553118.1_Missense_Mutation_p.G71S|GIT2_ENST00000354574.4_Missense_Mutation_p.G71S|GIT2_ENST00000360185.4_Missense_Mutation_p.G71S|GIT2_ENST00000343646.5_Missense_Mutation_p.G71S	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	71	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GAGTTAGCACCGTTATTATAC	0.398																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(211-213)Ggt>Agt		G protein-coupled receptor kinase interacting ArfGAP 2							119.0	113.0	115.0					12																	110427583		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110427583C>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.211G>A	12.37:g.110427583C>T	ENSP00000347464:p.Gly71Ser					GIT2_ENST00000553118.1_Missense_Mutation_p.G71S|GIT2_ENST00000547815.1_Missense_Mutation_p.G71S|GIT2_ENST00000355312.3_Missense_Mutation_p.G71S|GIT2_ENST00000457474.2_Missense_Mutation_p.G71S|GIT2_ENST00000551209.1_Missense_Mutation_p.G71S|GIT2_ENST00000338373.5_Missense_Mutation_p.G71S|GIT2_ENST00000361006.5_Missense_Mutation_p.G71S|GIT2_ENST00000354574.4_Missense_Mutation_p.G71S|GIT2_ENST00000343646.5_Missense_Mutation_p.G71S|GIT2_ENST00000320063.9_Missense_Mutation_p.G71S|GIT2_ENST00000356259.4_Missense_Mutation_p.G71S	p.G71S			Q14161	GIT2_HUMAN			3	375	-			71			Arf-GAP.		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.211G>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	C	36	5.804815	0.96967	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.87	5.87	0.94306	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0;0.998	D;P;D;D;D;D;D	0.81914	0.995;0.906;0.995;0.995;0.992;0.992;0.97	T	0.52109	-0.8619	10	0.25751	T	0.34	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	71;71;71;71;71;71;71	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	S	71;71;71;71;71;71;71;71;71;71;9;71;71	ENSP00000347464:G71S;ENSP00000353312:G71S;ENSP00000346585:G71S;ENSP00000340342:G71S;ENSP00000340938:G71S;ENSP00000348595:G71S;ENSP00000391813:G71S;ENSP00000354282:G71S;ENSP00000447465:G71S;ENSP00000448832:G71S;ENSP00000450348:G71S;ENSP00000323833:G71S	ENSP00000323833:G71S	G	-	1	0	GIT2	108911966	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGT		0.398	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		20	47	0	0	0	0.069288	0	20	47				
ATP2A3	489	broad.mit.edu	37	17	3854894	3854894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:3854894G>A	ENST00000352011.3	-	4	359	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A102V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	102					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCACAATGGCGTTGGCCAC	0.687																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(304-306)gCc>gTc		ATPase, Ca++ transporting, ubiquitous							35.0	26.0	29.0					17																	3854894		2198	4299	6497	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3854894G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.305C>T	17.37:g.3854894G>A	ENSP00000301387:p.Ala102Val					ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V	p.A102V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	4	455	-			102					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.305C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847168	0.91277	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.01	4.01	0.46588	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	M	0.76433	2.335	0.80722	D	1	P;D;D;D;D;D	0.76494	0.758;0.998;0.998;0.999;0.999;0.998	B;D;D;D;D;D	0.69479	0.156;0.94;0.964;0.94;0.94;0.94	D	0.94461	0.7676	10	0.87932	D	0	.	15.6649	0.77221	0.0:0.0:1.0:0.0	.	102;102;102;102;102;102	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	V	102	ENSP00000380236:A102V;ENSP00000301387:A102V;ENSP00000353072:A102V;ENSP00000380234:A102V;ENSP00000312577:A102V;ENSP00000380229:A102V	ENSP00000312577:A102V	A	-	2	0	ATP2A3	3801643	1.000000	0.71417	0.917000	0.36280	0.883000	0.51084	9.640000	0.98453	2.229000	0.72834	0.514000	0.50259	GCC		0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		10	12	0	0	0	0.058154	0	10	12				
TMEM255A	55026	broad.mit.edu	37	X	119421060	119421060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:119421060G>T	ENST00000309720.5	-	5	495	c.372C>A	c.(370-372)taC>taA	p.Y124*	TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000371352.1_5'Flank|TMEM255A_ENST00000371369.4_Nonsense_Mutation_p.Y124*	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	124						integral component of membrane (GO:0016021)											ACCGGTTAGCGTAGAGTGGTT	0.448																																						ENST00000371369.4																			0											c.(370-372)taC>taA		transmembrane protein 255A							235.0	212.0	220.0					X																	119421060		2203	4300	6503	SO:0001587	stop_gained	55026							g.chrX:119421060G>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.372C>A	X.37:g.119421060G>T	ENSP00000310110:p.Tyr124*					TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.Y124*	p.Y124*	NM_001104544.1	NP_001098014.1					5	598	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Nonsense_Mutation	SNP	ENST00000309720.5	37	c.372C>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	g	32	5.132494	0.94473	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	.	.	.	5.17	-5.36	0.02689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8244	12.9031	0.58137	0.4568:0.0:0.5432:0.0	.	.	.	.	X	124	.	ENSP00000310110:Y124X	Y	-	3	2	FAM70A	119305088	0.973000	0.33851	0.859000	0.33776	0.813000	0.45954	0.028000	0.13644	-1.508000	0.01800	-1.339000	0.01253	TAC		0.448	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		6	173	1	0	2.7689e-08	0.029380	3.09928e-08	6	173				
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:102292953T>C	ENST00000561463.1	+	0	999									DNM1 pseudogene 47																		GGCACAGCGGTGCGACGAGAT	0.587																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292953T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292953T>C														0	999	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	18	0	0	0	0.047766	0	5	18				
PLD1	5337	broad.mit.edu	37	3	171431702	171431702	+	Nonsense_Mutation	SNP	G	G	A	rs373694099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:171431702G>A	ENST00000351298.4	-	9	1018	c.892C>T	c.(892-894)Cga>Tga	p.R298*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000356327.5_Nonsense_Mutation_p.R298*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R298*	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	298	PH.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTATCAATTCGGATTCCATAT	0.338																																					NSCLC(149;2174 3517 34058)	ENST00000356327.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(892-894)Cga>Tga		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)	G	stop/ARG,stop/ARG	0,4406		0,0,2203	139.0	144.0	142.0		892,892	5.4	1.0	3		142	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained	PLD1	NM_001130081.2,NM_002662.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	298/1037,298/1075	171431702	1,13005	2203	4300	6503	SO:0001587	stop_gained	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171431702G>A	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.892C>T	3.37:g.171431702G>A	ENSP00000342793:p.Arg298*					PLD1_ENST00000340989.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R298*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R298*	p.R298*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		9	962	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		298			PH.			Nonsense_Mutation	SNP	ENST00000351298.4	37	c.892C>T	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	33	5.201404	0.94997	0.0	1.16E-4	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989	.	.	.	5.36	5.36	0.76844	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6289	18.2205	0.89899	0.0:0.0:1.0:0.0	.	.	.	.	X	298	.	ENSP00000340326:R298X	R	-	1	2	PLD1	172914396	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.955000	0.93058	2.678000	0.91216	0.563000	0.77884	CGA		0.338	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		86	9	0	0	0	0.139131	0	86	9				
NRAP	4892	broad.mit.edu	37	10	115384664	115384664	+	Missense_Mutation	SNP	T	T	A	rs576338429		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:115384664T>A	ENST00000359988.3	-	22	2514	c.2270A>T	c.(2269-2271)cAg>cTg	p.Q757L	NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L|NRAP_ENST00000369358.4_Missense_Mutation_p.Q765L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGGACAGACTGCTCATTTCC	0.567																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2293-2295)cAg>cTg		nebulin-related anchoring protein							188.0	155.0	166.0					10																	115384664		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115384664T>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2270A>T	10.37:g.115384664T>A	ENSP00000353078:p.Gln757Leu					NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L	p.Q765L			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	22	2538	-		Colorectal(252;0.0233)|Breast(234;0.188)	757						Missense_Mutation	SNP	ENST00000359988.3	37	c.2294A>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219952	0.79464	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.84	4.7	0.59300	.	0.106321	0.64402	D	0.000003	T	0.56307	0.1976	M	0.65975	2.015	0.41084	D	0.985543	P;B;B;B	0.45594	0.862;0.433;0.127;0.254	P;P;B;B	0.51297	0.665;0.456;0.187;0.207	T	0.59059	-0.7525	10	0.48119	T	0.1	.	11.9021	0.52690	0.0:0.0699:0.0:0.9301	.	437;757;722;757	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	L	765;730;757;722;437	ENSP00000358365:Q765L;ENSP00000358367:Q730L;ENSP00000353078:Q757L;ENSP00000353666:Q722L	ENSP00000353078:Q757L	Q	-	2	0	NRAP	115374654	1.000000	0.71417	0.973000	0.42090	0.849000	0.48306	4.695000	0.61767	2.227000	0.72691	0.533000	0.62120	CAG		0.567	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		39	12	0	0	0	0.086207	0	39	12				
SRGAP1	57522	broad.mit.edu	37	12	64505580	64505580	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:64505580A>G	ENST00000355086.3	+	17	2482	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	653	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGACCCTTATAACCTGGCC	0.378																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1957-1959)tAt>tGt		SLIT-ROBO Rho GTPase activating protein 1							119.0	109.0	113.0					12																	64505580		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64505580A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1958A>G	12.37:g.64505580A>G	ENSP00000347198:p.Tyr653Cys					RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C	p.Y653C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	17	2482	+			653			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1958A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784369	0.70222	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19250	2.16;2.16;2.16	5.05	5.05	0.67936	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.32357	U	0.006215	T	0.53610	0.1807	M	0.92026	3.265	0.58432	D	0.999998	D;D	0.67145	0.996;0.989	D;P	0.67231	0.95;0.879	T	0.65496	-0.6154	9	.	.	.	.	15.1199	0.72434	1.0:0.0:0.0:0.0	.	653;590	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	C	653;630;590	ENSP00000347198:Y653C;ENSP00000350480:Y630C;ENSP00000437948:Y590C	.	Y	+	2	0	SRGAP1	62791847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.449000	0.60034	2.042000	0.60477	0.454000	0.30748	TAT		0.378	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			21	55	0	0	0	0.076483	0	21	55				
KLF14	136259	broad.mit.edu	37	7	130418557	130418557	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:130418557C>T	ENST00000310992.4	-	1	331	c.304G>A	c.(304-306)Gag>Aag	p.E102K		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCCGAGTTCTCCCAGGAGCCC	0.771																																						ENST00000310992.4																			0				large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(304-306)Gag>Aag		Kruppel-like factor 14							5.0	8.0	7.0					7																	130418557		2057	4113	6170	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130418557C>T	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.304G>A	7.37:g.130418557C>T	ENSP00000310878:p.Glu102Lys						p.E102K	NM_138693.2	NP_619638.1	Q8TD94	KLF14_HUMAN			1	331	-	Melanoma(18;0.0435)		102					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.304G>A	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	c	16.79	3.219836	0.58560	.	.	ENSG00000174595	ENST00000310992	T	0.08102	3.13	3.2	1.33	0.21861	.	0.541899	0.13843	N	0.358878	T	0.04137	0.0115	N	0.19112	0.55	0.30529	N	0.767652	B	0.15141	0.012	B	0.09377	0.004	T	0.41893	-0.9483	10	0.06625	T	0.88	.	6.5125	0.22230	0.0:0.7386:0.0:0.2613	.	102	Q8TD94	KLF14_HUMAN	K	102	ENSP00000310878:E102K	ENSP00000310878:E102K	E	-	1	0	KLF14	130069097	0.414000	0.25408	0.042000	0.18584	0.318000	0.28184	2.724000	0.47285	0.629000	0.30376	0.506000	0.49869	GAG		0.771	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		4	5	0	0	0	0.021553	0	4	5				
LTBP1	4052	broad.mit.edu	37	2	33482371	33482371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:33482371C>A	ENST00000404816.2	+	12	2541	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	730					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGAAATCTGTCCTGGTGGAAT	0.393																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2188-2190)Cct>Act		latent transforming growth factor beta binding protein 1							83.0	80.0	81.0					2																	33482371		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33482371C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2188C>A	2.37:g.33482371C>A	ENSP00000386043:p.Pro730Thr					LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T	p.P730T			Q14766	LTBP1_HUMAN			12	2541	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	730					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2188C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539528	0.85917	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000468091	D;D;D;D;D;D	0.94000	-3.19;-3.19;-3.19;-3.19;-3.19;-3.33	5.81	5.81	0.92471	.	.	.	.	.	D	0.95915	0.8670	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.95942	0.8947	9	0.87932	D	0	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	404;404;404;730	E7EV71;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	T	730;730;404;404;404;47	ENSP00000386043:P730T;ENSP00000346467:P730T;ENSP00000374653:P404T;ENSP00000393057:P404T;ENSP00000384091:P404T;ENSP00000417591:P47T	ENSP00000346467:P730T	P	+	1	0	LTBP1	33335875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.001000	0.76297	2.736000	0.93811	0.655000	0.94253	CCT		0.393	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		29	39	1	0	5.97227e-30	0.045705	7.74037e-30	29	39				
PIK3C2A	5286	broad.mit.edu	37	11	17139063	17139063	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:17139063C>T	ENST00000265970.7	-	18	3190	c.3191G>A	c.(3190-3192)aGg>aAg	p.R1064K	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R684K|RNU6-593P_ENST00000364716.1_RNA|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1064					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACTAGCCTGCCTTACTTTTTC	0.393																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3190-3192)aGg>aAg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						140.0	138.0	139.0					11																	17139063		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17139063C>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3191G>A	11.37:g.17139063C>T	ENSP00000265970:p.Arg1064Lys					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.R684K|PIK3C2A_ENST00000531428.1_Intron	p.R1064K	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			18	3190	-			1064					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.3191G>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	C	6.227	0.410027	0.11812	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80123	-1.34;-1.34	5.51	3.65	0.41850	Protein kinase-like domain (1);	0.155967	0.56097	N	0.000025	T	0.58864	0.2152	N	0.13140	0.3	0.47994	D	0.999564	B	0.02656	0.0	B	0.06405	0.002	T	0.50634	-0.8805	10	0.02654	T	1	-3.2805	8.4973	0.33136	0.0:0.7053:0.0:0.2947	.	1064	O00443	P3C2A_HUMAN	K	1064;684	ENSP00000265970:R1064K;ENSP00000438687:R684K	ENSP00000265970:R1064K	R	-	2	0	PIK3C2A	17095639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.760000	0.47581	0.704000	0.31869	0.591000	0.81541	AGG		0.393	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		51	13	0	0	0	0.139131	0	51	13				
SPANXD	64648	broad.mit.edu	37	X	140785697	140785697	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chrX:140785697T>C	ENST00000370515.3	-	2	552	c.219A>G	c.(217-219)cgA>cgG	p.R73R		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	73						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTCTGTTCTTTCGGGCGTGGT	0.433																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(217-219)cgA>cgG		SPANX family, member D							216.0	188.0	198.0					X																	140785697		2200	4281	6481	SO:0001819	synonymous_variant	64648							g.chrX:140785697T>C	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.219A>G	X.37:g.140785697T>C							p.R73R	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	552	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Silent	SNP	ENST00000370515.3	37	c.219A>G	CCDS14675.1																																																																																				0.433	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			178	49	0	0	0	0.139131	0	178	49				
SRSF2	6427	broad.mit.edu	37	17	74732524	74732524	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:74732524G>C	ENST00000392485.2	-	2	557	c.385C>G	c.(385-387)Cga>Gga	p.R129G	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MIR636_ENST00000384825.1_RNA|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R129*(1)|p.R109*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCGGGATCGGCTGCGGCGA	0.711			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		2	Substitution - Nonsense(2)	p.R129*(1)|p.R109*(1)	kidney(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(385-387)Cga>Gga		serine/arginine-rich splicing factor 2							34.0	35.0	35.0					17																	74732524		2202	4300	6502	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732524G>C	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.385C>G	17.37:g.74732524G>C	ENSP00000376276:p.Arg129Gly					MFSD11_ENST00000586622.1_5'UTR|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G	p.R129G	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	557	-			129			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.385C>G	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417123	0.42918	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T;T	0.73469	0.95;2.33;-0.61;-0.75	4.68	1.33	0.21861	.	0.073617	0.50627	N	0.000107	T	0.60715	0.2290	L	0.52573	1.65	0.80722	D	1	P;P	0.35242	0.492;0.492	B;B	0.24701	0.055;0.055	T	0.51616	-0.8683	10	0.28530	T	0.3	.	10.0558	0.42244	0.0:0.1338:0.589:0.2772	.	117;129	B4DN89;Q01130	.;SRSF2_HUMAN	G	129;156;117;109	ENSP00000376276:R129G;ENSP00000441780:R156G;ENSP00000350877:R117G;ENSP00000353089:R109G	ENSP00000350877:R117G	R	-	1	2	SRSF2	72244119	1.000000	0.71417	0.589000	0.28718	0.920000	0.55202	2.703000	0.47110	0.021000	0.15133	0.467000	0.42956	CGA		0.711	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		12	85	0	0	0	0.093190	0	12	85				
APCDD1L	164284	broad.mit.edu	37	20	57045686	57045686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr20:57045686T>G	ENST00000371149.3	-	2	397	c.167A>C	c.(166-168)aAt>aCt	p.N56T	APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	56						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCAAGGTCCATTAAGGCGTGG	0.617																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(166-168)aAt>aCt		adenomatosis polyposis coli down-regulated 1-like							59.0	46.0	50.0					20																	57045686		2202	4298	6500	SO:0001583	missense	164284					integral to membrane		g.chr20:57045686T>G	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.167A>C	20.37:g.57045686T>G	ENSP00000360191:p.Asn56Thr					APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	p.N56T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		2	397	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		56						Missense_Mutation	SNP	ENST00000371149.3	37	c.167A>C	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	T	7.147	0.582927	0.13749	.	.	ENSG00000198768	ENST00000371149;ENST00000439429;ENST00000425773	T;T;T	0.30714	2.34;2.34;1.52	4.73	1.06	0.20224	.	0.655299	0.15439	N	0.262297	T	0.12135	0.0295	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.25222	-1.0138	10	0.29301	T	0.29	-0.8087	6.0188	0.19618	0.0:0.1524:0.1431:0.7045	.	67;56	F5H6V6;Q8NCL9	.;APCDL_HUMAN	T	56;67;67	ENSP00000360191:N56T;ENSP00000413261:N67T;ENSP00000396856:N67T	ENSP00000360191:N56T	N	-	2	0	APCDD1L	56479092	0.008000	0.16893	0.000000	0.03702	0.048000	0.14542	1.721000	0.38032	-0.026000	0.13895	-0.274000	0.10170	AAT		0.617	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		7	10	0	0	0	0.038147	0	7	10				
AFF3	3899	broad.mit.edu	37	2	100368683	100368683	+	Splice_Site	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:100368683C>A	ENST00000409236.2	-	7	1114	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	AFF3_ENST00000409579.1_Splice_Site_p.K359N|AFF3_ENST00000356421.2_Splice_Site_p.K359N|AFF3_ENST00000317233.4_Splice_Site_p.K334N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	334					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AAGATCTCACCTTATTTGGAA	0.443																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.e8+1		AF4/FMR2 family, member 3							97.0	93.0	94.0					2																	100368683		2203	4300	6503	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100368683C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1002+1G>T	2.37:g.100368683C>A						AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice|AFF3_ENST00000409236.1_Splice_Site_p.K334_splice	p.K334_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			8	1237	-			334					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.1002_splice	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388632	0.82902	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.43	5.43	0.79202	.	0.000000	0.35936	N	0.002894	T	0.80939	0.4720	L	0.52905	1.665	0.49483	D	0.999792	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.994;0.998;0.994	T	0.79543	-0.1760	9	.	.	.	.	16.3803	0.83458	0.0:1.0:0.0:0.0	.	488;488;334;359	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	N	334;359;359;334;334;488;359	ENSP00000317421:K334N;ENSP00000348793:K359N;ENSP00000386834:K359N;ENSP00000387207:K334N	.	K	-	3	2	AFF3	99735115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.013000	0.64023	2.558000	0.86282	0.591000	0.81541	AAG		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Missense_Mutation	20	44	1	0	8.10497e-08	0.055883	9.02079e-08	20	44				
DHRS4L2	317749	broad.mit.edu	37	14	24464313	24464313	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:24464313A>C	ENST00000335125.6	+	3	505	c.379A>C	c.(379-381)Atg>Ctg	p.M127L	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	125						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGGAAGCCTAATGGATGTCAC	0.522																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(379-381)Atg>Ctg		dehydrogenase/reductase (SDR family) member 4 like 2							412.0	373.0	386.0					14																	24464313		2203	4300	6503	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24464313A>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.379A>C	14.37:g.24464313A>C	ENSP00000334801:p.Met127Leu					DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L	p.M127L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	505	+			74					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.379A>C	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	0.363	-0.938275	0.02340	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	4.64	-3.05	0.05396	NAD(P)-binding domain (1);	0.138925	0.48767	D	0.000168	T	0.52175	0.1718	N	0.01405	-0.89	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58769	-0.7578	10	0.02654	T	1	.	2.1348	0.03759	0.2434:0.1368:0.0918:0.528	.	125;125	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	L	26;127;127;127;125	ENSP00000380261:M127L;ENSP00000334801:M127L;ENSP00000437883:M127L;ENSP00000372203:M125L	ENSP00000334801:M127L	M	+	1	0	DHRS4L2	23534153	0.012000	0.17670	0.156000	0.22583	0.769000	0.43574	0.205000	0.17356	0.124000	0.18369	0.327000	0.21459	ATG		0.522	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			9	686	0	0	0	0.069234	0	9	686				
TECRL	253017	broad.mit.edu	37	4	65274963	65274963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr4:65274963A>G	ENST00000381210.3	-	1	217	c.107T>C	c.(106-108)tTg>tCg	p.L36S	TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	36					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTTTTGACAAAAAGTGAAA	0.413																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(106-108)tTg>tCg		trans-2,3-enoyl-CoA reductase-like							108.0	110.0	109.0					4																	65274963		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274963A>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.107T>C	4.37:g.65274963A>G	ENSP00000370607:p.Leu36Ser					TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			1	217	-			36						Missense_Mutation	SNP	ENST00000381210.3	37	c.107T>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.327001	0.24080	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.43294	0.95;0.95;0.95	4.99	4.99	0.66335	.	0.734290	0.12659	N	0.449804	T	0.47229	0.1434	L	0.53249	1.67	0.27275	N	0.958251	P;P	0.44429	0.835;0.622	P;B	0.46208	0.507;0.193	T	0.45411	-0.9263	10	0.87932	D	0	-7.8706	12.3572	0.55182	1.0:0.0:0.0:0.0	.	36;36	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	S	36	ENSP00000426043:L36S;ENSP00000370607:L36S;ENSP00000422497:L36S	ENSP00000370607:L36S	L	-	2	0	TECRL	64957558	0.931000	0.31567	0.696000	0.30242	0.102000	0.19082	5.792000	0.69052	2.001000	0.58596	0.533000	0.62120	TTG		0.413	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		12	40	0	0	0	0.105934	0	12	40				
EBF3	253738	broad.mit.edu	37	10	131640476	131640476	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr10:131640476C>A	ENST00000355311.5	-	13	1348	c.1276G>T	c.(1276-1278)Ggc>Tgc	p.G426C	MIR4297_ENST00000579857.1_RNA|EBF3_ENST00000368648.3_Missense_Mutation_p.G417C			Q9H4W6	COE3_HUMAN	early B-cell factor 3	426					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGGTTGTTGCCCAGGGTGGGG	0.597																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(1249-1251)Ggc>Tgc		early B-cell factor 3							249.0	202.0	218.0					10																	131640476		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640476C>A		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1276G>T	10.37:g.131640476C>A	ENSP00000347463:p.Gly426Cys					EBF3_ENST00000355311.5_Missense_Mutation_p.G426C	p.G417C	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1321	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	426					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1249G>T		.	.	.	.	.	.	.	.	.	.	C	28.9	4.959816	0.92791	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.42900	0.96;0.96	5.27	5.27	0.74061	.	0.096756	0.64402	D	0.000001	T	0.51618	0.1685	L	0.36672	1.1	0.45718	D	0.998629	B	0.32031	0.352	P	0.47744	0.556	T	0.53592	-0.8417	10	0.62326	D	0.03	-20.2607	19.2752	0.94029	0.0:1.0:0.0:0.0	.	417	Q9H4W6-2	.	C	426;417	ENSP00000347463:G426C;ENSP00000357637:G417C	ENSP00000347463:G426C	G	-	1	0	EBF3	131530466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.627000	0.88993	0.650000	0.86243	GGC		0.597	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		64	41	1	0	1.42676e-28	0.139131	1.83707e-28	64	41				
ZNF85	7639	broad.mit.edu	37	19	21132175	21132175	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:21132175C>A	ENST00000328178.8	+	4	968	c.855C>A	c.(853-855)ccC>ccA	p.P285P	ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000601023.1_Silent_p.P226P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	285					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAGAAACCCTACAAATGTA	0.353																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(676-678)ccC>ccA		zinc finger protein 85							28.0	31.0	30.0					19																	21132175		2201	4296	6497	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132175C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.855C>A	19.37:g.21132175C>A						ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P	p.P226P			Q03923	ZNF85_HUMAN			2	1324	+			285					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.678C>A	CCDS32977.1																																																																																				0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		13	15	1	0	0.00185496	0.105934	0.00195415	13	15				
ZNF347	84671	broad.mit.edu	37	19	53644453	53644453	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:53644453C>T	ENST00000334197.7	-	5	1696	c.1628G>A	c.(1627-1629)tGt>tAt	p.C543Y	ZNF347_ENST00000601469.2_Missense_Mutation_p.C544Y|ZNF347_ENST00000452676.2_Missense_Mutation_p.C544Y|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCACTCATTACACATATAAGG	0.398																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1630-1632)tGt>tAt		zinc finger protein 347							154.0	150.0	152.0					19																	53644453		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644453C>T	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1628G>A	19.37:g.53644453C>T	ENSP00000334146:p.Cys543Tyr					ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.C544Y|ZNF347_ENST00000334197.7_Missense_Mutation_p.C543Y	p.C544Y	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2057	-			543					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.1631G>A	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859022	0.51376	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	D;D	0.85088	-1.94;-1.94	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94374	0.8191	H	0.97415	4	0.38491	D	0.947968	B;D	0.63046	0.232;0.992	B;D	0.66979	0.127;0.948	D	0.96484	0.9358	9	0.72032	D	0.01	.	13.2379	0.59979	0.0:1.0:0.0:0.0	.	544;543	G5E9N4;Q96SE7	.;ZN347_HUMAN	Y	543;544	ENSP00000334146:C543Y;ENSP00000405218:C544Y	ENSP00000334146:C543Y	C	-	2	0	ZNF347	58336265	0.995000	0.38212	0.006000	0.13384	0.018000	0.09664	3.807000	0.55591	1.700000	0.51204	0.655000	0.94253	TGT		0.398	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		60	51	0	0	0	0.139131	0	60	51				
PKP4	8502	broad.mit.edu	37	2	159519912	159519912	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:159519912A>T	ENST00000389759.3	+	15	2644	c.2532A>T	c.(2530-2532)gaA>gaT	p.E844D	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.E844D|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	844					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACCTTGGAAGGCTCTGCAG	0.493										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2530-2532)gaA>gaT		plakophilin 4							61.0	62.0	62.0					2																	159519912		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519912A>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2532A>T	2.37:g.159519912A>T	ENSP00000374409:p.Glu844Asp	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR	p.E844D	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			15	2657	+			844					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2532A>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.372639	0.82573	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.81659	-1.52;-1.52	5.76	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.996;0.99;0.996	D	0.88220	0.2896	10	0.87932	D	0	-14.3621	6.276	0.20981	0.7097:0.0:0.2903:0.0	.	799;844;844	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	D	844	ENSP00000374407:E844D;ENSP00000374409:E844D	ENSP00000374407:E844D	E	+	3	2	PKP4	159228158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.172000	0.50832	1.014000	0.39417	0.533000	0.62120	GAA		0.493	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			34	54	0	0	0	0.059317	0	34	54				
CTC-260E6.6	0	broad.mit.edu	37	19	20368478	20368478	+	RNA	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:20368478C>T	ENST00000593655.1	-	0	199																											AACGGCAGGGCGGCAGCGGCT	0.453																																						ENST00000593655.1																			0																																																			0							g.chr19:20368478C>T																													19.37:g.20368478C>T														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.453	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			11	10	0	0	0	0.069234	0	11	10				
RIMBP2	23504	broad.mit.edu	37	12	130892304	130892304	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:130892304G>T	ENST00000261655.4	-	16	3055	c.2892C>A	c.(2890-2892)gaC>gaA	p.D964E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	964	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTCTCTGGGGTCGTAGTCAT	0.552																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2890-2892)gaC>gaA		RIMS binding protein 2							460.0	350.0	388.0					12																	130892304		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130892304G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2892C>A	12.37:g.130892304G>T	ENSP00000261655:p.Asp964Glu						p.D964E	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	16	3055	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	964			SH3 3.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2892C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704895	0.68615	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.45276	0.9;0.9	4.93	3.03	0.35002	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.46678	0.1405	N	0.25992	0.78	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	T	0.35301	-0.9794	10	0.41790	T	0.15	-40.7606	9.445	0.38693	0.294:0.0:0.706:0.0	.	964	O15034	RIMB2_HUMAN	E	964;101	ENSP00000261655:D964E;ENSP00000439030:D101E	ENSP00000261655:D964E	D	-	3	2	RIMBP2	129458257	0.992000	0.36948	0.996000	0.52242	0.870000	0.49936	0.246000	0.18160	1.031000	0.39867	0.555000	0.69702	GAC		0.552	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		109	218	1	0	4.95557e-46	0.139131	6.59627e-46	109	218				
OR8I2	120586	broad.mit.edu	37	11	55861497	55861497	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55861497C>A	ENST00000302124.2	+	1	745	c.714C>A	c.(712-714)tcC>tcA	p.S238S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AGGCCTTCTCCACCTGCGCAT	0.493																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(712-714)tcC>tcA		olfactory receptor, family 8, subfamily I, member 2							152.0	139.0	144.0					11																	55861497		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861497C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.714C>A	11.37:g.55861497C>A						OR8I2_ENST00000560768.1_3'UTR	p.S238S			Q8N0Y5	OR8I2_HUMAN			1	745	+	Esophageal squamous(21;0.00693)		238					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.714C>A	CCDS31517.1																																																																																				0.493	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		62	66	1	0	4.60343e-24	0.139131	5.8888e-24	62	66				
RALGAPA1	253959	broad.mit.edu	37	14	36207835	36207835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr14:36207835C>T	ENST00000389698.3	-	12	1861	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	491					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAACATGATCAGCAGTATTG	0.388																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1471-1473)Gat>Aat		Ral GTPase activating protein, alpha subunit 1 (catalytic)							127.0	120.0	122.0					14																	36207835		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36207835C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1471G>A	14.37:g.36207835C>T	ENSP00000374348:p.Asp491Asn					RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N|RALGAPA1_ENST00000554704.1_5'UTR	p.D491N			Q6GYQ0	RGPA1_HUMAN			12	1861	-			491					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1471G>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474818	0.43942	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.51	4.61	0.57282	.	0.478389	0.22500	N	0.059254	T	0.50548	0.1622	N	0.03608	-0.345	0.23132	N	0.99824	B;B;B;B;B	0.18863	0.001;0.0;0.031;0.002;0.001	B;B;B;B;B	0.18871	0.012;0.0;0.018;0.023;0.004	T	0.39522	-0.9610	10	0.36615	T	0.2	-8.4881	10.9116	0.47112	0.0:0.8643:0.0:0.1357	.	491;491;491;491;491	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	N	491	ENSP00000374348:D491N;ENSP00000302647:D491N;ENSP00000258840:D491N;ENSP00000371803:D491N;ENSP00000451877:D491N	ENSP00000258840:D491N	D	-	1	0	RALGAPA1	35277586	1.000000	0.71417	0.982000	0.44146	0.905000	0.53344	1.179000	0.31993	2.746000	0.94184	0.591000	0.81541	GAT		0.388	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		5	133	0	0	0	0.014758	0	5	133				
EPHB6	2051	broad.mit.edu	37	7	142568363	142568363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:142568363G>T	ENST00000392957.2	+	19	3669	c.2882G>T	c.(2881-2883)gGa>gTa	p.G961V	EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	961	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGCCATTGGACTGGAGTGC	0.597																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2881-2883)gGa>gTa		EPH receptor B6							88.0	91.0	90.0					7																	142568363		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568363G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2882G>T	7.37:g.142568363G>T	ENSP00000376684:p.Gly961Val					EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V|EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V	p.G961V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			19	3669	+	Melanoma(164;0.059)		961			SAM.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2882G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933407	0.73442	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.88354	-2.37;-2.37;-2.37	5.23	5.23	0.72850	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.45361	D	0.000370	D	0.93436	0.7906	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.68039	0.955;0.869	D	0.93578	0.6910	10	0.87932	D	0	.	7.6589	0.28392	0.1812:0.0:0.8188:0.0	.	961;684	O15197;O15197-2	EPHB6_HUMAN;.	V	961;961;684	ENSP00000376684:G961V;ENSP00000410789:G961V;ENSP00000409061:G684V	ENSP00000376684:G961V	G	+	2	0	EPHB6	142278485	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.129000	0.64739	2.419000	0.82065	0.655000	0.94253	GGA		0.597	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			36	127	1	0	9.17885e-22	0.059317	1.13015e-21	36	127				
OR8J3	81168	broad.mit.edu	37	11	55904545	55904545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr11:55904545G>T	ENST00000301529.1	-	1	649	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(649-651)tCt>tAt		olfactory receptor, family 8, subfamily J, member 3							90.0	92.0	91.0					11																	55904545		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904545G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.650C>A	11.37:g.55904545G>T	ENSP00000301529:p.Ser217Tyr						p.S217Y	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	649	-	Esophageal squamous(21;0.00693)		217					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.650C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554970	0.45487	.	.	ENSG00000167822	ENST00000301529	T	0.46063	0.88	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.73628	0.3611	H	0.96460	3.825	0.21220	N	0.99975	D	0.65815	0.995	D	0.74023	0.982	T	0.71027	-0.4711	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	217	Q8NGG0	OR8J3_HUMAN	Y	217	ENSP00000301529:S217Y	ENSP00000301529:S217Y	S	-	2	0	OR8J3	55661121	1.000000	0.71417	0.818000	0.32626	0.757000	0.42996	5.728000	0.68531	1.553000	0.49476	0.297000	0.19635	TCT		0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		26	42	1	0	2.41591e-17	0.099896	2.86707e-17	26	42				
PLEKHM2	23207	broad.mit.edu	37	1	16058487	16058487	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:16058487A>G	ENST00000375799.3	+	17	2796	c.2569A>G	c.(2569-2571)Agc>Ggc	p.S857G	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S837G	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	857	Interaction with sifA.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGTGCCGAGAGCGAGGCCGA	0.667																																						ENST00000375799.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2569-2571)Agc>Ggc		pleckstrin homology domain containing, family M (with RUN domain) member 2							29.0	37.0	34.0					1																	16058487		2079	4207	6286	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16058487A>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2569A>G	1.37:g.16058487A>G	ENSP00000364956:p.Ser857Gly					PLEKHM2_ENST00000375793.2_Missense_Mutation_p.S837G|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	p.S857G	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	17	2796	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	857			Interaction with sifA.|PH.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2569A>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.256026	0.22965	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.79749	-1.3;-1.3	5.27	4.13	0.48395	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.174886	0.50627	D	0.000104	T	0.67477	0.2897	N	0.19112	0.55	0.30452	N	0.775152	B	0.22346	0.068	B	0.19666	0.026	T	0.68250	-0.5458	10	0.59425	D	0.04	-12.8018	11.292	0.49256	0.9267:0.0:0.0733:0.0	.	857	Q8IWE5	PKHM2_HUMAN	G	857;837	ENSP00000364956:S857G;ENSP00000364950:S837G	ENSP00000364950:S837G	S	+	1	0	PLEKHM2	15931074	0.999000	0.42202	0.817000	0.32601	0.071000	0.16799	3.778000	0.55371	1.994000	0.58287	0.459000	0.35465	AGC		0.667	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		10	8	0	0	0	0.069234	0	10	8				
TMEM132E	124842	broad.mit.edu	37	17	32963160	32963160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:32963160C>G	ENST00000321639.5	+	9	2170	c.1842C>G	c.(1840-1842)agC>agG	p.S614R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	614						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCTGGGAGCAGCCACACCA	0.632																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1840-1842)agC>agG		transmembrane protein 132E							48.0	37.0	41.0					17																	32963160		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32963160C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1842C>G	17.37:g.32963160C>G	ENSP00000316532:p.Ser614Arg						p.S614R	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	9	2170	+			614					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1842C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093835	0.56075	.	.	ENSG00000181291	ENST00000321639	T	0.16897	2.31	5.56	4.39	0.52855	.	0.084250	0.85682	D	0.000000	T	0.21307	0.0513	L	0.60067	1.865	0.45005	D	0.998029	P	0.49783	0.928	P	0.45829	0.494	T	0.01149	-1.1436	10	0.27082	T	0.32	-33.067	13.2013	0.59769	0.0:0.8689:0.0:0.1311	.	614	Q6IEE7	T132E_HUMAN	R	614	ENSP00000316532:S614R	ENSP00000316532:S614R	S	+	3	2	TMEM132E	29987273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.692000	0.37731	2.610000	0.88304	0.551000	0.68910	AGC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		7	20	0	0	0	0.029380	0	7	20				
TRHR	7201	broad.mit.edu	37	8	110099852	110099852	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr8:110099852C>A	ENST00000518632.1	+	2	462	c.111C>A	c.(109-111)ggC>ggA	p.G37G	TRHR_ENST00000311762.2_Silent_p.G37G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTATTTGTGGCCTGGGCATTG	0.507																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(109-111)ggC>ggA		thyrotropin-releasing hormone receptor							132.0	116.0	122.0					8																	110099852		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099852C>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.111C>A	8.37:g.110099852C>A						TRHR_ENST00000311762.2_Silent_p.G37G	p.G37G			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	462	+			37					Q2M339	Silent	SNP	ENST00000518632.1	37	c.111C>A	CCDS6311.1																																																																																				0.507	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			38	53	1	0	3.21399e-22	0.074837	4.00732e-22	38	53				
SERPINE1	5054	broad.mit.edu	37	7	100771855	100771855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:100771855G>A	ENST00000223095.4	+	2	338	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	61					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTCACCCTATGGGGTGGCCTC	0.592																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(181-183)Ggg>Agg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						66.0	63.0	64.0					7																	100771855		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100771855G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.181G>A	7.37:g.100771855G>A	ENSP00000223095:p.Gly61Arg					SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	p.G61R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			2	338	+	Lung NSC(181;0.136)|all_lung(186;0.182)		61					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.181G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303030	0.95601	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	T;T	0.24151	1.87;1.87	5.57	5.57	0.84162	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63323	-0.6663	10	0.59425	D	0.04	.	17.0487	0.86511	0.0:0.0:1.0:0.0	.	46;61	F8WD53;P05121	.;PAI1_HUMAN	R	61;46;46	ENSP00000223095:G61R;ENSP00000396766:G46R	ENSP00000223095:G61R	G	+	1	0	SERPINE1	100558575	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.171000	0.89675	2.622000	0.88805	0.655000	0.94253	GGG		0.592	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		37	37	0	0	0	0.069456	0	37	37				
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr12:132491260C>T	ENST00000333577.4	+	16	3359	c.3250C>T	c.(3250-3252)Cca>Tca	p.P1084S	EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S			Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3250-3252)Cca>Tca		E1A binding protein p400							77.0	73.0	74.0					12																	132491260		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132491260C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3250C>T	12.37:g.132491260C>T	ENSP00000333602:p.Pro1084Ser					EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S	p.P1084S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	16	3359	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1084			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3250C>T		.	.	.	.	.	.	.	.	.	.	C	10.09	1.255110	0.22965	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.55	5.55	0.83447	.	0.053452	0.85682	D	0.000000	D	0.96688	0.8919	M	0.78637	2.42	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.955;0.975	D	0.96936	0.9684	10	0.87932	D	0	.	19.4888	0.95042	0.0:1.0:0.0:0.0	.	1048;1048;1047	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	1084;1048;1047;1011;1048;1048;1048	ENSP00000333602:P1084S;ENSP00000374212:P1048S;ENSP00000374213:P1047S;ENSP00000331737:P1011S;ENSP00000330620:P1048S	ENSP00000330620:P1048S	P	+	1	0	EP400	131057213	1.000000	0.71417	0.039000	0.18376	0.059000	0.15707	7.788000	0.85771	2.601000	0.87937	0.460000	0.39030	CCA		0.398	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		20	21	0	0	0	0.055883	0	20	21				
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458669	90458669	+	Silent	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:90458669T>A	ENST00000603238.1	+	2	345	c.345T>A	c.(343-345)ccT>ccA	p.P115P																								ACAGTACCCCTCCCACAGCGT	0.517																																						ENST00000603238.1																			0											c.(343-345)ccT>ccA																																						SO:0001819	synonymous_variant	339562							g.chr2:90458669T>A																												ENST00000603238.1:c.345T>A	2.37:g.90458669T>A							p.115_115insP							2	345	+									Missense_Mutation	SNP	ENST00000603238.1	37	c.345T>A																																																																																					0.517	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			33	610	0	0	0	0.059317	0	33	610				
PLXNA2	5362	broad.mit.edu	37	1	208216455	208216455	+	Missense_Mutation	SNP	C	C	T	rs374038859		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:208216455C>T	ENST00000367033.3	-	21	4725	c.3968G>A	c.(3967-3969)cGa>cAa	p.R1323Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1323					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAACAGGACTCGCATAGCGTA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.001					ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3967-3969)cGa>cAa		plexin A2		C	GLN/ARG	0,4406		0,0,2203	84.0	79.0	80.0		3968	5.4	1.0	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1323/1895	208216455	1,13005	2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208216455C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3968G>A	1.37:g.208216455C>T	ENSP00000356000:p.Arg1323Gln						p.R1323Q	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	21	4725	-			1323					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3968G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	37	5.998433	0.97184	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.14640	2.49	5.42	5.42	0.78866	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46721	-0.9171	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	1323	O75051	PLXA2_HUMAN	Q	1323	ENSP00000356000:R1323Q	ENSP00000356000:R1323Q	R	-	2	0	PLXNA2	206283078	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	7.454000	0.80714	2.543000	0.85770	0.650000	0.86243	CGA		0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		29	32	0	0	0	0.134883	0	29	32				
FLNC	2318	broad.mit.edu	37	7	128488731	128488731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr7:128488731C>G	ENST00000325888.8	+	27	4958	c.4697C>G	c.(4696-4698)gCa>gGa	p.A1566G	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.A1566G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1566					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACCATCGACGCACGGGACGCG	0.662																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4696-4698)gCa>gGa		filamin C, gamma							104.0	116.0	112.0					7																	128488731		2087	4213	6300	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488731C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4697C>G	7.37:g.128488731C>G	ENSP00000327145:p.Ala1566Gly					FLNC_ENST00000346177.6_Missense_Mutation_p.A1566G	p.A1566G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			27	4958	+			1566					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4697C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652866	0.67472	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86230	-2.09;-2.09	5.09	5.09	0.68999	Immunoglobulin E-set (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93406	0.7897	M	0.76002	2.32	0.80722	D	1	D;P	0.76494	0.999;0.842	D;D	0.87578	0.998;0.929	D	0.94030	0.7300	10	0.87932	D	0	.	18.8541	0.92244	0.0:1.0:0.0:0.0	.	1566;1566	Q14315-2;Q14315	.;FLNC_HUMAN	G	1566	ENSP00000327145:A1566G;ENSP00000344002:A1566G	ENSP00000327145:A1566G	A	+	2	0	FLNC	128275967	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	6.001000	0.70685	2.513000	0.84729	0.655000	0.94253	GCA		0.662	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			41	133	0	0	0	0.139131	0	41	133				
ADCK4	79934	broad.mit.edu	37	19	41206235	41206235	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:41206235T>G	ENST00000324464.3	-	11	1316	c.1015A>C	c.(1015-1017)Agc>Cgc	p.S339R	ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R|ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	339	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGGTCCTGGCTTAGGCCCTGG	0.672																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(1015-1017)Agc>Cgc		aarF domain containing kinase 4							43.0	45.0	44.0					19																	41206235		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41206235T>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1015A>C	19.37:g.41206235T>G	ENSP00000315118:p.Ser339Arg					ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R|ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R	p.S339R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		11	1316	-			339			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1015A>C	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022513	0.54683	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.53206	0.63;0.63;0.63	5.75	4.73	0.59995	Protein kinase-like domain (1);	0.107304	0.64402	D	0.000003	T	0.45716	0.1356	L	0.56769	1.78	0.36763	D	0.883372	B;B	0.27679	0.175;0.185	B;B	0.34652	0.091;0.187	T	0.56517	-0.7966	10	0.62326	D	0.03	-21.3481	8.0174	0.30389	0.0:0.1462:0.0:0.8538	.	339;298	Q96D53;Q96D53-2	ADCK4_HUMAN;.	R	339;298;298	ENSP00000315118:S339R;ENSP00000412839:S298R;ENSP00000243583:S298R	ENSP00000243583:S298R	S	-	1	0	ADCK4	45898075	0.993000	0.37304	1.000000	0.80357	0.866000	0.49608	0.851000	0.27751	2.196000	0.70406	0.460000	0.39030	AGC		0.672	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		17	47	0	0	0	0.146539	0	17	47				
NOTCH1	4851	broad.mit.edu	37	9	139412359	139412359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr9:139412359C>T	ENST00000277541.6	-	8	1361	c.1286G>A	c.(1285-1287)tGc>tAc	p.C429Y	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	429	EGF-like 11; 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)			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)		CGTGTTGATGCACTTGCCCGC	0.662			"""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		0				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.(1285-1287)tGc>tAc		notch 1							41.0	46.0	45.0					9																	139412359		2196	4286	6482	SO:0001583	missense	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.chr9:139412359C>T	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.1286G>A	9.37:g.139412359C>T	ENSP00000277541:p.Cys429Tyr	HNSCC(8;0.001)					p.C429Y	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1361	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	429			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1286G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451155	0.84209	.	.	ENSG00000148400	ENST00000277541	D	0.99445	-5.91	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96625	0.9462	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	429	P46531	NOTC1_HUMAN	Y	429	ENSP00000277541:C429Y	ENSP00000277541:C429Y	C	-	2	0	NOTCH1	138532180	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.645000	0.83430	2.088000	0.63022	0.462000	0.41574	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		38	37	0	0	0	0.086207	0	38	37				
ANKRD17	26057	broad.mit.edu	37	4	73984419	73984419	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr4:73984419C>G	ENST00000358602.4	-	22	4290	c.4174G>C	c.(4174-4176)Gca>Cca	p.A1392P	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1392					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTAAATGCTGCCATAAGAGGA	0.423																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(4174-4176)Gca>Cca		ankyrin repeat domain 17							188.0	170.0	176.0					4																	73984419		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73984419C>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4174G>C	4.37:g.73984419C>G	ENSP00000351416:p.Ala1392Pro					ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1279P|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1141P	p.A1392P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	4290	-	Breast(15;0.000295)		1392					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4174G>C	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038667	0.75617	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.66280	-0.2;-0.2;-0.2	5.56	5.56	0.83823	Ankyrin repeat-containing domain (4);	0.207467	0.33732	N	0.004614	T	0.78451	0.4285	M	0.82193	2.58	0.46203	D	0.998928	D;D;D;D;P	0.58970	0.979;0.981;0.981;0.984;0.939	P;P;P;P;P	0.62740	0.906;0.804;0.804;0.876;0.602	T	0.79860	-0.1625	10	0.49607	T	0.09	.	14.3842	0.66931	0.1478:0.8522:0.0:0.0	.	913;1391;1141;1392;1279	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	P	1392;1141;1279	ENSP00000351416:A1392P;ENSP00000332265:A1141P;ENSP00000427151:A1279P	ENSP00000332265:A1141P	A	-	1	0	ANKRD17	74203283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.901000	0.63259	2.611000	0.88343	0.655000	0.94253	GCA		0.423	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		47	19	0	0	0	0.139131	0	47	19				
NRCAM	4897	broad.mit.edu	37	7	107831704	107831704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:107831704C>T	ENST00000425651.2	-	16	1926	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000379028.3_Missense_Mutation_p.V643I	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	643					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCGTAAACGGGAGCTGGA	0.318																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(1927-1929)Gtt>Att		neuronal cell adhesion molecule							58.0	59.0	59.0					7																	107831704		1824	4080	5904	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107831704C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1927G>A	7.37:g.107831704C>T	ENSP00000401244:p.Val643Ile					NRCAM_ENST00000413765.2_Missense_Mutation_p.V624I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V643I|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.V643I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V624I	p.V643I			Q92823	NRCAM_HUMAN			19	2397	-			643					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.1927G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006490	0.07773	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T	0.62639	0.01;0.32;0.1;0.01;0.03	5.87	3.55	0.40652	Fibronectin, type III (1);	0.534254	0.19684	N	0.108434	T	0.28300	0.0699	N	0.02391	-0.57	0.25951	N	0.98275	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.16070	-1.0415	10	0.11794	T	0.64	.	4.3686	0.11237	0.1427:0.2362:0.0:0.6211	.	643;624;624;643	Q92823-5;Q92823-3;E9PDA4;Q92823	.;.;.;NRCAM_HUMAN	I	643;643;624;643;624;643;643	ENSP00000368314:V643I;ENSP00000407858:V624I;ENSP00000368310:V624I;ENSP00000401244:V643I;ENSP00000368308:V643I	ENSP00000368308:V643I	V	-	1	0	NRCAM	107618940	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.956000	0.29202	1.194000	0.43101	0.655000	0.94253	GTT		0.318	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		9	15	0	0	0	0.093190	0	9	15				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		6	16	0	0	0	0.029380	0	6	16				
RYR1	6261	broad.mit.edu	37	19	39013683	39013683	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:39013683G>A	ENST00000359596.3	+	68	10275	c.10275G>A	c.(10273-10275)acG>acA	p.T3425T	RYR1_ENST00000360985.3_Silent_p.T3425T|RYR1_ENST00000355481.4_Silent_p.T3425T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3425					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGTGGCTGACGGAGCCGAATC	0.662																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10273-10275)acG>acA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						17.0	17.0	17.0					19																	39013683		2201	4298	6499	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39013683G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10275G>A	19.37:g.39013683G>A						RYR1_ENST00000359596.3_Silent_p.T3425T|RYR1_ENST00000360985.3_Silent_p.T3425T	p.T3425T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		68	10406	+	all_cancers(60;7.91e-06)		3425					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.10275G>A	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			12	8	0	0	0	0.080935	0	12	8				
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898									ankyrin repeat domain 36B pseudogene 2																		AATTCAAATCATTGATTTCTG	0.289																																						ENST00000393525.3																			0																																																			645784							g.chr2:89104958A>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104958A>G														0	4898	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.289	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	3	0	0	0	0.009096	0	2	3				
CABS1	85438	broad.mit.edu	37	4	71201892	71201892	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr4:71201892A>T	ENST00000273936.5	+	1	1210	c.1136A>T	c.(1135-1137)gAa>gTa	p.E379V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	379					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCACAACTGAAACGGATATC	0.398																																						ENST00000273936.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1135-1137)gAa>gTa		calcium-binding protein, spermatid-specific 1							72.0	74.0	73.0					4																	71201892		2203	4299	6502	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201892A>T	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.1136A>T	4.37:g.71201892A>T	ENSP00000273936:p.Glu379Val						p.E379V	NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN			1	1195	+			379					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.1136A>T	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429392	0.25726	.	.	ENSG00000145309	ENST00000273936	T	0.29917	1.55	4.69	3.51	0.40186	.	0.529047	0.15981	N	0.235306	T	0.31918	0.0812	L	0.27053	0.805	0.09310	N	1	D	0.54397	0.966	P	0.55577	0.779	T	0.06716	-1.0811	10	0.66056	D	0.02	-0.3084	7.2785	0.26297	0.8998:0.0:0.1002:0.0	.	379	Q96KC9	CABS1_HUMAN	V	379	ENSP00000273936:E379V	ENSP00000273936:E379V	E	+	2	0	CABS1	71236481	0.389000	0.25205	0.096000	0.21009	0.025000	0.11179	1.641000	0.37197	0.921000	0.36994	-0.274000	0.10170	GAA		0.398	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		29	12	0	0	0	0.125774	0	29	12				
SPATA17	128153	broad.mit.edu	37	1	217955658	217955658	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:217955658A>G	ENST00000366933.4	+	8	921	c.866A>G	c.(865-867)gAc>gGc	p.D289G	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	289						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATGTAAATGACAATATGTGA	0.363																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(865-867)gAc>gGc		spermatogenesis associated 17							85.0	90.0	88.0					1																	217955658		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217955658A>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.866A>G	1.37:g.217955658A>G	ENSP00000355900:p.Asp289Gly					RP11-415L24.1_ENST00000415765.1_RNA	p.D289G	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	8	921	+			289					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.866A>G	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	A	18.14	3.557735	0.65425	.	.	ENSG00000162814	ENST00000366933	T	0.58358	0.34	4.73	4.73	0.59995	.	0.132185	0.48767	D	0.000180	T	0.69124	0.3076	M	0.79475	2.455	0.47905	D	0.999542	D	0.76494	0.999	P	0.59546	0.859	T	0.75054	-0.3453	10	0.87932	D	0	-16.9721	14.5183	0.67833	1.0:0.0:0.0:0.0	.	289	Q96L03	SPT17_HUMAN	G	289	ENSP00000355900:D289G	ENSP00000355900:D289G	D	+	2	0	SPATA17	216022281	1.000000	0.71417	0.038000	0.18304	0.004000	0.04260	3.481000	0.53179	1.901000	0.55032	0.528000	0.53228	GAC		0.363	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		15	27	0	0	0	0.033300	0	15	27				
TMEM132E	124842	broad.mit.edu	37	17	32963160	32963160	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:32963160C>G	ENST00000321639.5	+	9	2170	c.1842C>G	c.(1840-1842)agC>agG	p.S614R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	614						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCTGGGAGCAGCCACACCA	0.632																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(1840-1842)agC>agG		transmembrane protein 132E							48.0	37.0	41.0					17																	32963160		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32963160C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1842C>G	17.37:g.32963160C>G	ENSP00000316532:p.Ser614Arg						p.S614R	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	9	2170	+			614					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.1842C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093835	0.56075	.	.	ENSG00000181291	ENST00000321639	T	0.16897	2.31	5.56	4.39	0.52855	.	0.084250	0.85682	D	0.000000	T	0.21307	0.0513	L	0.60067	1.865	0.45005	D	0.998029	P	0.49783	0.928	P	0.45829	0.494	T	0.01149	-1.1436	10	0.27082	T	0.32	-33.067	13.2013	0.59769	0.0:0.8689:0.0:0.1311	.	614	Q6IEE7	T132E_HUMAN	R	614	ENSP00000316532:S614R	ENSP00000316532:S614R	S	+	3	2	TMEM132E	29987273	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.692000	0.37731	2.610000	0.88304	0.551000	0.68910	AGC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		7	20	0	0	0	0.029380	0	7	20				
CD300E	342510	broad.mit.edu	37	17	72613588	72613588	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:72613588C>T	ENST00000328630.3	-	2	97	c.57G>A	c.(55-57)aaG>aaA	p.K19K	CD300E_ENST00000426295.2_Silent_p.K60K|CD300E_ENST00000392619.1_Silent_p.K46K			Q496F6	CLM2_HUMAN	CD300e molecule	19	Ig-like V-type.		K -> T (in dbSNP:rs581157). {ECO:0000269|PubMed:15557162}.		innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCCGGGGCCCTTCAGAGACA	0.552																																						ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(136-138)aaG>aaA		CD300e molecule							44.0	38.0	40.0					17																	72613588		2203	4300	6503	SO:0001819	synonymous_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613588C>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.57G>A	17.37:g.72613588C>T						CD300E_ENST00000426295.2_Silent_p.K60K|CD300E_ENST00000328630.3_Silent_p.K19K	p.K46K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			2	173	-			19			Ig-like V-type.		B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	c.138G>A	CCDS11702.1																																																																																				0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		25	18	0	0	0	0.091800	0	25	18				
ITGB1	3688	broad.mit.edu	37	10	33199209	33199209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr10:33199209A>C	ENST00000396033.2	-	14	2241	c.2106T>G	c.(2104-2106)taT>taG	p.Y702*	ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	702					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AATACGTAAAATAGAACCAAC	0.433																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2104-2106)taT>taG		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							75.0	67.0	69.0					10																	33199209		2203	4297	6500	SO:0001587	stop_gained	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33199209A>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2106T>G	10.37:g.33199209A>C	ENSP00000379350:p.Tyr702*					ITGB1_ENST00000423113.1_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000374956.4_Nonsense_Mutation_p.Y702*|ITGB1_ENST00000302278.3_Nonsense_Mutation_p.Y702*	p.Y702*	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			14	2241	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	702					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Nonsense_Mutation	SNP	ENST00000396033.2	37	c.2106T>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937725	0.92458	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	.	.	.	5.82	-2.4	0.06583	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2809	0.73784	0.3611:0.0:0.6389:0.0	.	.	.	.	X	702	.	ENSP00000303351:Y702X	Y	-	3	2	ITGB1	33239215	1.000000	0.71417	0.952000	0.39060	0.216000	0.24613	0.753000	0.26376	-0.701000	0.05063	-0.388000	0.06559	TAT		0.433	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		17	8	0	0	0	0.049695	0	17	8				
CCDC89	220388	broad.mit.edu	37	11	85396180	85396180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:85396180G>A	ENST00000316398.3	-	1	1140	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	332						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTTTGCGCTGAAGCTCC	0.498																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(994-996)Cgc>Tgc		coiled-coil domain containing 89							134.0	106.0	116.0					11																	85396180		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396180G>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.994C>T	11.37:g.85396180G>A	ENSP00000320649:p.Arg332Cys						p.R332C	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	1140	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	332						Missense_Mutation	SNP	ENST00000316398.3	37	c.994C>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263234	0.23051	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	4.17	0.49024	.	0.590301	0.18154	N	0.149992	T	0.48077	0.1480	M	0.69823	2.125	0.20307	N	0.999918	D	0.64830	0.994	P	0.50049	0.629	T	0.43261	-0.9402	8	.	.	.	-3.0384	7.4343	0.27145	0.12:0.0995:0.6784:0.1021	.	332	Q8N998	CCD89_HUMAN	C	332	.	.	R	-	1	0	CCDC89	85073828	0.999000	0.42202	0.970000	0.41538	0.114000	0.19823	2.723000	0.47277	0.910000	0.36722	-0.797000	0.03246	CGC		0.498	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		23	71	0	0	0	0.076483	0	23	71				
ZNF440	126070	broad.mit.edu	37	19	11943141	11943141	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:11943141C>T	ENST00000304060.5	+	4	1314	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CAGTTCCCTTCGATATCATGA	0.433																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1150-1152)Cga>Tga		zinc finger protein 440							65.0	66.0	65.0					19																	11943141		2203	4298	6501	SO:0001587	stop_gained	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943141C>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1150C>T	19.37:g.11943141C>T	ENSP00000305373:p.Arg384*						p.R384*	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1314	+			384					Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	c.1150C>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	16.82	3.229385	0.58777	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.19	1.19	0.21007	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.4275	0.07416	0.2822:0.4382:0.2796:0.0	.	.	.	.	X	384	.	ENSP00000305373:R384X	R	+	1	2	ZNF440	11804141	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.688000	0.05150	0.972000	0.38314	0.205000	0.17691	CGA		0.433	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		27	22	0	0	0	0.091800	0	27	22				
KCNV1	27012	broad.mit.edu	37	8	110980617	110980617	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:110980617G>T	ENST00000524391.1	-	4	2235	c.1203C>A	c.(1201-1203)gaC>gaA	p.D401E	KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	401					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTGTGGTGGTGTCTGGTCTAA	0.478																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1201-1203)gaC>gaA		potassium channel, subfamily V, member 1							112.0	111.0	111.0					8																	110980617		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980617G>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1203C>A	8.37:g.110980617G>T	ENSP00000435954:p.Asp401Glu					KCNV1_ENST00000297404.1_Missense_Mutation_p.D401E	p.D401E			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2235	-	all_neural(195;0.219)		401					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1203C>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	9.168	1.020391	0.19433	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98455	-4.94;-4.94	5.46	4.59	0.56863	Ion transport (1);	0.048711	0.85682	D	0.000000	D	0.90259	0.6954	N	0.00885	-1.115	0.46298	D	0.998977	P	0.41784	0.762	B	0.42245	0.381	D	0.91001	0.4842	10	0.02654	T	1	.	11.6614	0.51349	0.1482:0.0:0.8518:0.0	.	401	Q6PIU1	KCNV1_HUMAN	E	401;401;277	ENSP00000435954:D401E;ENSP00000297404:D401E	ENSP00000297404:D401E	D	-	3	2	KCNV1	111049793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.995000	0.57001	1.291000	0.44653	-0.137000	0.14449	GAC		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		43	73	1	0	4.67007e-22	0.104719	5.95989e-22	43	73				
TMEM147	10430	broad.mit.edu	37	19	36037859	36037859	+	Silent	SNP	A	A	G	rs35486099		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:36037859A>G	ENST00000222284.5	+	5	502	c.357A>G	c.(355-357)ctA>ctG	p.L119L	AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA|TMEM147_ENST00000392205.1_Silent_p.L119L|TMEM147_ENST00000392204.2_Silent_p.L70L|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	119						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATTCCCCTATGGGTCGGAG	0.562																																						ENST00000392204.2																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(208-210)ctA>ctG		transmembrane protein 147							110.0	110.0	110.0					19																	36037859		2203	4300	6503	SO:0001819	synonymous_variant	10430					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:36037859A>G	BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.357A>G	19.37:g.36037859A>G						TMEM147_ENST00000222284.5_Silent_p.L119L|TMEM147_ENST00000392205.1_Silent_p.L119L	p.L70L	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		4	538	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		119					A8MWW0|O75790	Silent	SNP	ENST00000222284.5	37	c.210A>G	CCDS12466.1																																																																																				0.562	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109469.2	NM_032635		55	57	0	0	0	0.139131	0	55	57				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	17.37:g.7578271T>C	ENSP00000269305:p.His193Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R	p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	8	0	0	0	0.092188	0	38	8				
NLRP6	171389	broad.mit.edu	37	11	284488	284488	+	Missense_Mutation	SNP	G	G	A	rs376822405		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:284488G>A	ENST00000312165.5	+	7	2386	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	NLRP6_ENST00000534750.1_Missense_Mutation_p.D795N|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	796					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAGCTGCCTGACCCCCAGCG	0.697																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2383-2385)Gac>Aac		NLR family, pyrin domain containing 6		G	ASN/ASP	0,4406		0,0,2203	27.0	29.0	29.0		2386	-4.2	0.0	11		29	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP6	NM_138329.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	796/893	284488	1,13005	2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:284488G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2386G>A	11.37:g.284488G>A	ENSP00000309767:p.Asp796Asn					NLRP6_ENST00000312165.5_Missense_Mutation_p.D796N	p.D795N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	2588	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	796					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2383G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320098	0.05386	0.0	1.16E-4	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.50548	0.74;0.74	3.06	-4.24	0.03777	.	2.754530	0.02269	N	0.068241	T	0.25005	0.0607	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16305	-1.0407	10	0.27082	T	0.32	.	9.1438	0.36919	0.6546:0.0:0.3454:0.0	.	795;796	E9PJZ8;P59044	.;NALP6_HUMAN	N	795;796	ENSP00000433617:D795N;ENSP00000309767:D796N	ENSP00000309767:D796N	D	+	1	0	NLRP6	274488	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.383000	0.01063	-0.960000	0.03613	-1.810000	0.00614	GAC		0.697	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		18	7	0	0	0	0.055883	0	18	7				
OR8B4	283162	broad.mit.edu	37	11	124294456	124294456	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:124294456A>C	ENST00000356130.3	-	1	333	c.312T>G	c.(310-312)tgT>tgG	p.C104W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGACAAAGAAACAGAAGAAAA	0.423																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(310-312)tgT>tgG		olfactory receptor, family 8, subfamily B, member 4							105.0	103.0	104.0					11																	124294456		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294456A>C	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.312T>G	11.37:g.124294456A>C	ENSP00000348449:p.Cys104Trp						p.C104W	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	333	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	104					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.312T>G	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	13.99	2.403040	0.42613	.	.	ENSG00000198657	ENST00000356130	T	0.00626	6.13	4.62	-3.78	0.04333	GPCR, rhodopsin-like superfamily (1);	0.230323	0.31123	N	0.008209	T	0.02267	0.0070	M	0.85777	2.775	0.29793	N	0.833068	D	0.71674	0.998	D	0.64595	0.927	T	0.01021	-1.1478	10	0.87932	D	0	.	8.0243	0.30427	0.1772:0.1147:0.5956:0.1125	.	104	Q96RC9	OR8B4_HUMAN	W	104	ENSP00000348449:C104W	ENSP00000348449:C104W	C	-	3	2	OR8B4	123799666	0.000000	0.05858	0.945000	0.38365	0.989000	0.77384	-2.482000	0.00981	-0.823000	0.04301	0.533000	0.62120	TGT		0.423	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		16	51	0	0	0	0.038395	0	16	51				
CTC-260E6.6	0	broad.mit.edu	37	19	20368478	20368478	+	RNA	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:20368478C>T	ENST00000593655.1	-	0	199																											AACGGCAGGGCGGCAGCGGCT	0.453																																						ENST00000593655.1																			0																																																			0							g.chr19:20368478C>T																													19.37:g.20368478C>T														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.453	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			11	10	0	0	0	0.069234	0	11	10				
ZNF687	57592	broad.mit.edu	37	1	151259689	151259689	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:151259689G>T	ENST00000368879.2	+	2	1020	c.922G>T	c.(922-924)Ggg>Tgg	p.G308W		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCCTCTAGTGGGGCCGAGGC	0.572																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(922-924)Ggg>Tgg		zinc finger protein 687							47.0	51.0	49.0					1																	151259689		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259689G>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.922G>T	1.37:g.151259689G>T	ENSP00000357874:p.Gly308Trp						p.G308W	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1020	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		308					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.922G>T		.	.	.	.	.	.	.	.	.	.	G	16.56	3.156467	0.57259	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00892	5.57;5.57;5.93	4.65	4.65	0.58169	.	0.000000	0.34603	N	0.003834	T	0.01421	0.0046	L	0.29908	0.895	0.39646	D	0.970392	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.988;0.995	T	0.80248	-0.1461	9	.	.	.	.	16.817	0.85736	0.0:0.0:1.0:0.0	.	308;308;308	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	W	308	ENSP00000336620:G308W;ENSP00000319829:G308W;ENSP00000357874:G308W	.	G	+	1	0	ZNF687	149526313	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.507000	0.73717	2.585000	0.87301	0.511000	0.50034	GGG		0.572	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		29	42	1	0	4.87955e-14	0.108266	5.83804e-14	29	42				
SERPINE1	5054	broad.mit.edu	37	7	100771855	100771855	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:100771855G>A	ENST00000223095.4	+	2	338	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	61					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTCACCCTATGGGGTGGCCTC	0.592																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(181-183)Ggg>Agg		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						66.0	63.0	64.0					7																	100771855		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100771855G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.181G>A	7.37:g.100771855G>A	ENSP00000223095:p.Gly61Arg					SERPINE1_ENST00000445463.2_Missense_Mutation_p.G46R	p.G61R	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			2	338	+	Lung NSC(181;0.136)|all_lung(186;0.182)		61					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.181G>A	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	G	34	5.303030	0.95601	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	T;T	0.24151	1.87;1.87	5.57	5.57	0.84162	Serpin domain (3);	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63323	-0.6663	10	0.59425	D	0.04	.	17.0487	0.86511	0.0:0.0:1.0:0.0	.	46;61	F8WD53;P05121	.;PAI1_HUMAN	R	61;46;46	ENSP00000223095:G61R;ENSP00000396766:G46R	ENSP00000223095:G61R	G	+	1	0	SERPINE1	100558575	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.171000	0.89675	2.622000	0.88805	0.655000	0.94253	GGG		0.592	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		37	37	0	0	0	0.069456	0	37	37				
LOXL2	4017	broad.mit.edu	37	8	23243522	23243522	+	Intron	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:23243522A>T	ENST00000389131.3	-	2	287				ENTPD4_ENST00000356206.6_Silent_p.G545G	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2						aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		gCTTTGGacaaccccctgagc	0.463																																						ENST00000356206.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1633-1635)ggT>ggA		ectonucleoside triphosphate diphosphohydrolase 4							130.0	118.0	122.0					8																	23243522		876	1991	2867	SO:0001627	intron_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23243522A>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.83-17575T>A	8.37:g.23243522A>T						LOXL2_ENST00000389131.3_Intron	p.G545G			Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1870	-		Prostate(55;0.114)	0					B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	ENST00000389131.3	37	c.1635T>A	CCDS34864.1																																																																																				0.463	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			39	14	0	0	0	0.117977	0	39	14				
C17orf75	64149	broad.mit.edu	37	17	30668273	30668273	+	Silent	SNP	G	G	A	rs377619237		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:30668273G>A	ENST00000577809.1	-	2	220	c.171C>T	c.(169-171)gaC>gaT	p.D57D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.D57D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	57										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGGGCTTCCGTCCTCACTGT	0.478																																						ENST00000577809.1																			0				ovary(1)	1						c.(169-171)gaC>gaT		chromosome 17 open reading frame 75		G		1,3977		0,1,1988	207.0	202.0	204.0		171	-1.2	1.0	17		204	0,8372		0,0,4186	no	coding-synonymous	C17orf75	NM_022344.3		0,1,6174	AA,AG,GG		0.0,0.0251,0.0081		57/397	30668273	1,12349	1989	4186	6175	SO:0001819	synonymous_variant	64149				spermatogenesis			g.chr17:30668273G>A	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.171C>T	17.37:g.30668273G>A						RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.D57D	p.D57D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	220	-		Breast(31;0.116)|Ovarian(249;0.182)	57					Q7Z2H4	Silent	SNP	ENST00000577809.1	37	c.171C>T	CCDS58537.1																																																																																				0.478	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	NM_022344		93	148	0	0	0	0.139131	0	93	148				
SLC6A5	9152	broad.mit.edu	37	11	20652257	20652257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:20652257G>A	ENST00000525748.1	+	10	1793	c.1520G>A	c.(1519-1521)tGc>tAc	p.C507Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	507					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ATTGTCACCTGCACCAACAGT	0.493																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1519-1521)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						222.0	190.0	201.0					11																	20652257		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20652257G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1520G>A	11.37:g.20652257G>A	ENSP00000434364:p.Cys507Tyr					SLC6A5_ENST00000528440.1_3'UTR	p.C507Y	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			10	1793	+			507					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.1520G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300750	0.60195	.	.	ENSG00000165970	ENST00000525748	T	0.74209	-0.82	5.57	5.57	0.84162	.	0.084454	0.85682	D	0.000000	T	0.78861	0.4350	L	0.59436	1.845	0.80722	D	1	P	0.35011	0.48	B	0.43082	0.407	T	0.79339	-0.1844	10	0.66056	D	0.02	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	507	Q9Y345	SC6A5_HUMAN	Y	507	ENSP00000434364:C507Y	ENSP00000434364:C507Y	C	+	2	0	SLC6A5	20608833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.863000	0.87023	2.618000	0.88619	0.655000	0.94253	TGC		0.493	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		5	115	0	0	0	0.021553	0	5	115				
CBLB	868	broad.mit.edu	37	3	105572471	105572471	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:105572471T>C	ENST00000264122.4	-	3	527	c.206A>G	c.(205-207)aAt>aGt	p.N69S	CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S|CBLB_ENST00000394027.3_Missense_Mutation_p.N91S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	69	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGGTGGGCTATTTTTCAACTG	0.289			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(205-207)aAt>aGt		Cbl proto-oncogene B, E3 ubiquitin protein ligase							69.0	67.0	68.0					3																	105572471		2202	4298	6500	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105572471T>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.206A>G	3.37:g.105572471T>C	ENSP00000264122:p.Asn69Ser					CBLB_ENST00000405772.1_Missense_Mutation_p.N69S|CBLB_ENST00000403724.1_Missense_Mutation_p.N69S|CBLB_ENST00000394027.3_Missense_Mutation_p.N91S|CBLB_ENST00000545639.1_Missense_Mutation_p.N91S	p.N69S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			3	527	-			69			4H.|Cbl-PTB.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.206A>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907497	0.72868	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772;ENST00000545639;ENST00000438603;ENST00000447441;ENST00000443752	T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.7	4.52	0.55395	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.993;0.991;0.999	D;P;D	0.79108	0.922;0.873;0.992	D	0.87045	0.2143	10	0.87932	D	0	-26.7958	12.0953	0.53750	0.1289:0.0:0.0:0.8711	.	91;69;69	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	S	69;91;69;69;91;91;69;69	ENSP00000264122:N69S;ENSP00000377595:N91S;ENSP00000384816:N69S;ENSP00000384938:N69S;ENSP00000446116:N91S;ENSP00000409750:N91S;ENSP00000400949:N69S;ENSP00000393906:N69S	ENSP00000264122:N69S	N	-	2	0	CBLB	107055161	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	0.956000	0.37904	0.459000	0.35465	AAT		0.289	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		58	6	0	0	0	0.139131	0	58	6				
TMEM259	91304	broad.mit.edu	37	19	1011795	1011795	+	Silent	SNP	C	C	T	rs551698083		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:1011795C>T	ENST00000356663.3	-	7	1066	c.945G>A	c.(943-945)acG>acA	p.T315T	TMEM259_ENST00000333175.5_Silent_p.T315T	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	315						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											ACACGCTCAGCGTCTGCAAGG	0.711													c|||	1	0.000199681	0.0	0.0014	5008	,	,		9291	0.0		0.0	False		,,,				2504	0.0					ENST00000356663.3																			0											c.(943-945)acG>acA		transmembrane protein 259							14.0	17.0	16.0					19																	1011795		2138	4231	6369	SO:0001819	synonymous_variant	91304							g.chr19:1011795C>T	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.945G>A	19.37:g.1011795C>T						TMEM259_ENST00000333175.5_Silent_p.T315T	p.T315T	NM_001033026.1	NP_001028198.1					7	1066	-								O60392|Q8NF79|Q96H30	Silent	SNP	ENST00000356663.3	37	c.945G>A	CCDS32862.1																																																																																				0.711	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458236.1	NM_033420		3	5	0	0	0	0.009096	0	3	5				
TAF1C	9013	broad.mit.edu	37	16	84214963	84214963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:84214963G>A	ENST00000567759.1	-	10	1395	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C|TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	405					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACTCCGGTGCGGTCACCCACG	0.667																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1213-1215)Cgc>Tgc		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							41.0	41.0	41.0					16																	84214963		2199	4299	6498	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84214963G>A	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1213C>T	16.37:g.84214963G>A	ENSP00000455265:p.Arg405Cys					TAF1C_ENST00000378541.4_Missense_Mutation_p.R405C|TAF1C_ENST00000341690.6_Missense_Mutation_p.R312C|TAF1C_ENST00000566732.1_Missense_Mutation_p.R379C|TAF1C_ENST00000541676.1_Missense_Mutation_p.R312C|TAF1C_ENST00000570117.1_Missense_Mutation_p.R73C	p.R405C	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			10	1395	-			405					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1213C>T	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847805	0.51164	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690	T;T;T	0.66280	-0.2;-0.2;-0.2	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);	0.092177	0.38605	N	0.001638	T	0.76608	0.4011	M	0.72118	2.19	0.52099	D	0.999943	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.969;0.998;0.969	T	0.79291	-0.1864	10	0.87932	D	0	-21.6395	12.7086	0.57076	0.0:0.0:1.0:0.0	.	379;405;312	Q15572-6;Q15572;Q15572-2	.;TAF1C_HUMAN;.	C	405;312;312	ENSP00000367802:R405C;ENSP00000437900:R312C;ENSP00000345305:R312C	ENSP00000345305:R312C	R	-	1	0	TAF1C	82772464	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	4.223000	0.58587	2.360000	0.80028	0.655000	0.94253	CGC		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		15	4	0	0	0	0.132662	0	15	4				
HSPA6	3310	broad.mit.edu	37	1	161495385	161495385	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:161495385C>T	ENST00000309758.4	+	1	1350	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	313					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGACCTCTTCCGCAGCACCCT	0.632																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(937-939)Cgc>Tgc		heat shock 70kDa protein 6 (HSP70B')							20.0	23.0	22.0					1																	161495385		2201	4294	6495	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495385C>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.937C>T	1.37:g.161495385C>T	ENSP00000310219:p.Arg313Cys						p.R313C	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1350	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		313					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.937C>T	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042249	0.35989	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01076	5.37	3.12	0.0486	0.14285	.	0.187022	0.25919	N	0.027454	T	0.03915	0.0110	H	0.97051	3.93	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	T	0.04454	-1.0950	10	0.87932	D	0	.	2.8004	0.05413	0.2025:0.4204:0.0:0.3771	.	313	P17066	HSP76_HUMAN	C	313;289	ENSP00000310219:R313C	ENSP00000310219:R313C	R	+	1	0	HSPA6	159762009	0.996000	0.38824	0.925000	0.36789	0.679000	0.39708	0.335000	0.19806	-0.233000	0.09797	-0.300000	0.09419	CGC		0.632	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		5	30	0	0	0	0.021553	0	5	30				
PALB2	79728	broad.mit.edu	37	16	23646401	23646401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:23646401G>A	ENST00000261584.4	-	4	1618	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	489	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCCAGCGGGAGAGCTGACTTT	0.468			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1465-1467)tCt>tTt	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							134.0	134.0	134.0					16																	23646401		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646401G>A		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1466C>T	16.37:g.23646401G>A	ENSP00000261584:p.Ser489Phe						p.S489F	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1618	-			489					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.1466C>T	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700874	0.48307	.	.	ENSG00000083093	ENST00000261584	T	0.19250	2.16	5.67	-2.21	0.06973	.	0.795348	0.11652	N	0.542708	T	0.13157	0.0319	L	0.41027	1.25	0.09310	N	1	B	0.21071	0.051	B	0.21917	0.037	T	0.29274	-1.0017	10	0.36615	T	0.2	-0.0073	2.9224	0.05773	0.1839:0.4393:0.2488:0.128	.	489	Q86YC2	PALB2_HUMAN	F	489	ENSP00000261584:S489F	ENSP00000261584:S489F	S	-	2	0	PALB2	23553902	0.230000	0.23740	0.012000	0.15200	0.176000	0.22953	0.512000	0.22755	-0.104000	0.12154	0.655000	0.94253	TCT		0.468	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		21	163	0	0	0	0.062417	0	21	163				
APOH	350	broad.mit.edu	37	17	64224252	64224252	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:64224252G>C	ENST00000205948.6	-	2	164	c.127C>G	c.(127-129)Cca>Gca	p.P43A		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	43	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TCTTCTCCTGGCTCATAGAAT	0.483																																					Melanoma(155;624 1882 16869 48804 51309)	ENST00000205948.6																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(127-129)Cca>Gca		apolipoprotein H (beta-2-glycoprotein I)							193.0	181.0	185.0					17																	64224252		2203	4300	6503	SO:0001583	missense	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64224252G>C		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.127C>G	17.37:g.64224252G>C	ENSP00000205948:p.Pro43Ala						p.P43A	NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		2	164	-			43			Sushi 1.		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	c.127C>G	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	G	8.946	0.966934	0.18659	.	.	ENSG00000091583	ENST00000205948	T	0.64260	-0.09	5.67	3.66	0.41972	Complement control module (2);Sushi/SCR/CCP (3);	0.469539	0.24054	N	0.041976	T	0.61949	0.2388	M	0.73598	2.24	0.26531	N	0.974255	D	0.53885	0.963	P	0.47075	0.536	T	0.54323	-0.8311	10	0.19147	T	0.46	.	8.3223	0.32136	0.0792:0.0:0.7662:0.1546	.	43	P02749	APOH_HUMAN	A	43	ENSP00000205948:P43A	ENSP00000205948:P43A	P	-	1	0	APOH	61654714	0.017000	0.18338	0.207000	0.23584	0.004000	0.04260	0.937000	0.28951	0.732000	0.32470	-0.145000	0.13849	CCA		0.483	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		76	97	0	0	0	0.139131	0	76	97				
ESPL1	9700	broad.mit.edu	37	12	53662897	53662897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:53662897C>A	ENST00000257934.4	+	3	262	c.171C>A	c.(169-171)tgC>tgA	p.C57*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	57					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGAGGGCTTGCAACCAGCAGC	0.572																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(169-171)tgC>tgA		extra spindle pole bodies homolog 1 (S. cerevisiae)							87.0	81.0	83.0					12																	53662897		2203	4300	6503	SO:0001587	stop_gained	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662897C>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.171C>A	12.37:g.53662897C>A	ENSP00000257934:p.Cys57*					ESPL1_ENST00000552462.1_Nonsense_Mutation_p.C57*	p.C57*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	262	+			57						Nonsense_Mutation	SNP	ENST00000257934.4	37	c.171C>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501023	0.85176	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	.	.	.	4.81	0.933	0.19471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2408	0.37495	0.0:0.691:0.0:0.309	.	.	.	.	X	57	.	ENSP00000257934:C57X	C	+	3	2	ESPL1	51949164	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	0.938000	0.28965	0.068000	0.16574	0.655000	0.94253	TGC		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		40	31	1	0	1.96642e-18	0.092188	2.43982e-18	40	31				
SRPK2	6733	broad.mit.edu	37	7	104787081	104787081	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:104787081G>T	ENST00000393651.3	-	8	733	c.646C>A	c.(646-648)Cac>Aac	p.H216N	SRPK2_ENST00000357311.3_Missense_Mutation_p.H205N|SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CACTTACTGTGTAAGTAATCT	0.338																																						ENST00000357311.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(613-615)Cac>Aac		SRSF protein kinase 2							123.0	108.0	113.0					7																	104787081		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104787081G>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.646C>A	7.37:g.104787081G>T	ENSP00000377262:p.His216Asn					SRPK2_ENST00000489828.1_Missense_Mutation_p.H205N|SRPK2_ENST00000393651.3_Missense_Mutation_p.H216N	p.H205N	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN			7	784	-			205			Protein kinase.			Missense_Mutation	SNP	ENST00000393651.3	37	c.613C>A	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724787	0.89298	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	D;D;D	0.84516	-1.86;-1.86;-1.86	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	M	0.92367	3.3	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.85130	0.997;0.997	D	0.95442	0.8526	10	0.87932	D	0	-14.4178	19.093	0.93235	0.0:0.0:1.0:0.0	.	216;205	P78362-2;P78362	.;SRPK2_HUMAN	N	216;205;205	ENSP00000377262:H216N;ENSP00000349863:H205N;ENSP00000419791:H205N	ENSP00000349863:H205N	H	-	1	0	SRPK2	104574317	1.000000	0.71417	0.997000	0.53966	0.899000	0.52679	9.801000	0.99128	2.600000	0.87896	0.561000	0.74099	CAC		0.338	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		10	37	1	0	3.03607e-14	0.093190	3.66517e-14	10	37				
MYO1C	4641	broad.mit.edu	37	17	1386944	1386944	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:1386944G>A	ENST00000575158.1	-	3	378	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Missense_Mutation_p.R103C			Q12965	MYO1E_HUMAN	myosin IC	75	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGGTAACGCTCCATATGC	0.627																																						ENST00000359786.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(307-309)Cgt>Tgt		myosin IC							46.0	43.0	44.0					17																	1386944		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1386944G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.202C>T	17.37:g.1386944G>A	ENSP00000459174:p.Arg68Cys					MYO1C_ENST00000575158.1_Missense_Mutation_p.R68C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R68C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R79C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R84C	p.R103C	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	3	631	-			103			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.307C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491083	0.64074	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.25	5.25	0.73442	Myosin head, motor domain (2);	0.245105	0.40469	N	0.001088	D	0.91088	0.7195	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.68621	0.959;0.935;0.931	D	0.91282	0.5052	10	0.59425	D	0.04	.	12.8678	0.57949	0.0:0.0:0.8373:0.1627	.	79;103;84	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	103;84;84;68;79;68	ENSP00000352834:R103C;ENSP00000412197:R84C;ENSP00000354283:R68C;ENSP00000437685:R79C	ENSP00000352834:R103C	R	-	1	0	MYO1C	1333694	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	2.757000	0.47557	2.456000	0.83038	0.491000	0.48974	CGT		0.627	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			6	13	0	0	0	0.029380	0	6	13				
CLVS1	157807	broad.mit.edu	37	8	62289235	62289235	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:62289235A>G	ENST00000519846.1	+	4	999	c.527A>G	c.(526-528)cAg>cGg	p.Q176R	CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	176	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCGGAGCTTCAGATAAATGGC	0.448																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(526-528)cAg>cGg		clavesin 1							97.0	95.0	96.0					8																	62289235		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62289235A>G	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.527A>G	8.37:g.62289235A>G	ENSP00000428402:p.Gln176Arg					CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.Q176R	p.Q176R			Q8IUQ0	CLVS1_HUMAN			4	999	+			176			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.527A>G	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.809718	0.90707	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.76186	-1.0;-1.0	5.64	5.64	0.86602	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.81942	2.565	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	D	0.87457	0.2405	10	0.72032	D	0.01	-9.2975	15.8471	0.78901	1.0:0.0:0.0:0.0	.	176	Q8IUQ0	CLVS1_HUMAN	R	176	ENSP00000428402:Q176R;ENSP00000325506:Q176R	ENSP00000325506:Q176R	Q	+	2	0	CLVS1	62451789	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.157000	0.67596	0.477000	0.44152	CAG		0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		3	82	0	0	0	0.115264	0	3	82				
OR5H15	403274	broad.mit.edu	37	3	97888085	97888085	+	Missense_Mutation	SNP	C	C	A	rs62266800		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:97888085C>A	ENST00000356526.2	+	1	542	c.542C>A	c.(541-543)aCt>aAt	p.T181N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TACTGTGACACTATCCCATTG	0.313																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(541-543)aCt>aAt		olfactory receptor, family 5, subfamily H, member 15							32.0	35.0	34.0					3																	97888085		2198	4272	6470	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888085C>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.542C>A	3.37:g.97888085C>A	ENSP00000373195:p.Thr181Asn						p.T181N	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	542	+			181						Missense_Mutation	SNP	ENST00000356526.2	37	c.542C>A	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	6.405	0.442816	0.12164	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37058	1.22	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.141093	0.32204	N	0.006426	T	0.20780	0.0500	N	0.20807	0.61	0.09310	N	1	B	0.19073	0.033	B	0.15052	0.012	T	0.17592	-1.0364	10	0.72032	D	0.01	.	5.8976	0.18947	0.0:0.1435:0.0:0.8565	.	181	A6NDH6	O5H15_HUMAN	N	181	ENSP00000373195:T181N	ENSP00000373195:T181N	T	+	2	0	OR5H15	99370775	0.000000	0.05858	0.025000	0.17156	0.060000	0.15804	0.676000	0.25247	0.199000	0.20427	-1.461000	0.01025	ACT		0.313	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			24	4	1	0	1.04121e-07	0.108266	1.20278e-07	24	4				
KRT32	3882	broad.mit.edu	37	17	39616390	39616390	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:39616390C>A	ENST00000225899.3	-	7	1422	c.1319G>T	c.(1318-1320)tGc>tTc	p.C440F		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	440	Tail.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GCAGGGTGAGCAAGGCATGCC	0.647																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1318-1320)tGc>tTc		keratin 32							61.0	48.0	52.0					17																	39616390		2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39616390C>A	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1319G>T	17.37:g.39616390C>A	ENSP00000225899:p.Cys440Phe						p.C440F	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			7	1422	-		Breast(137;0.000812)	440			Tail.			Missense_Mutation	SNP	ENST00000225899.3	37	c.1319G>T	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507908	0.44558	.	.	ENSG00000108759	ENST00000225899	D	0.87966	-2.32	3.48	3.48	0.39840	.	0.515018	0.15270	N	0.271268	D	0.88789	0.6532	M	0.81497	2.545	0.32082	N	0.593023	P	0.50943	0.94	P	0.47299	0.543	D	0.90425	0.4420	10	0.87932	D	0	.	10.6518	0.45653	0.0:1.0:0.0:0.0	.	440	Q14532	K1H2_HUMAN	F	440	ENSP00000225899:C440F	ENSP00000225899:C440F	C	-	2	0	KRT32	36869916	0.850000	0.29656	0.462000	0.27118	0.014000	0.08584	1.777000	0.38604	1.939000	0.56221	0.511000	0.50034	TGC		0.647	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		15	22	1	0	0.000422831	0.146539	0.000460646	15	22				
S1PR4	8698	broad.mit.edu	37	19	3179935	3179935	+	Missense_Mutation	SNP	G	G	A	rs562421570		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:3179935G>A	ENST00000246115.3	+	1	1200	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	382					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCCAGCGTGCGGAGCATCTGA	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16875	0.0		0.0	False		,,,				2504	0.0				GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(1144-1146)cGg>cAg		sphingosine-1-phosphate receptor 4							51.0	59.0	56.0					19																	3179935		2132	4161	6293	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179935G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1145G>A	19.37:g.3179935G>A	ENSP00000246115:p.Arg382Gln						p.R382Q	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	1200	+			382					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.1145G>A	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574054	0.45902	.	.	ENSG00000125910	ENST00000246115	D	0.81579	-1.51	3.67	3.67	0.42095	.	0.178533	0.26159	N	0.025989	T	0.71417	0.3337	L	0.27053	0.805	0.30803	N	0.739649	D	0.63880	0.993	P	0.47402	0.546	T	0.72643	-0.4231	10	0.51188	T	0.08	.	8.367	0.32393	0.0:0.0:0.7656:0.2344	.	382	O95977	S1PR4_HUMAN	Q	382	ENSP00000246115:R382Q	ENSP00000246115:R382Q	R	+	2	0	S1PR4	3130935	1.000000	0.71417	0.941000	0.38009	0.828000	0.46876	2.430000	0.44766	1.899000	0.54978	0.491000	0.48974	CGG		0.652	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		50	55	0	0	0	0.139131	0	50	55				
GRN	2896	broad.mit.edu	37	17	42429495	42429495	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:42429495C>T	ENST00000053867.3	+	11	1354	c.1292C>T	c.(1291-1293)gCc>gTc	p.A431V	GRN_ENST00000589265.1_Missense_Mutation_p.A274V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	431					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGATGCCTGCCCGCCGGGCT	0.667																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1291-1293)gCc>gTc		granulin							70.0	70.0	70.0					17																	42429495		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429495C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1292C>T	17.37:g.42429495C>T	ENSP00000053867:p.Ala431Val					GRN_ENST00000589265.1_Missense_Mutation_p.A274V	p.A431V	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	11	1354	+		Prostate(33;0.0181)	431					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1292C>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699967	0.68501	.	.	ENSG00000030582	ENST00000053867;ENST00000393566	T	0.70986	-0.53	5.12	3.06	0.35304	.	0.285136	0.28736	N	0.014315	T	0.58395	0.2119	L	0.38531	1.155	0.51012	D	0.999908	B;B	0.26445	0.149;0.043	B;B	0.29440	0.102;0.037	T	0.52563	-0.8559	10	0.26408	T	0.33	-2.6506	10.3172	0.43745	0.0:0.8293:0.0:0.1707	.	368;431	B4DJI2;P28799	.;GRN_HUMAN	V	431;251	ENSP00000053867:A431V	ENSP00000053867:A431V	A	+	2	0	GRN	39785021	0.153000	0.22777	0.271000	0.24616	0.247000	0.25773	2.429000	0.44758	1.119000	0.41883	0.561000	0.74099	GCC		0.667	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		55	57	0	0	0	0.139131	0	55	57				
UBE2M	9040	broad.mit.edu	37	19	59068277	59068277	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:59068277C>T	ENST00000253023.3	-	3	803	c.225G>A	c.(223-225)aaG>aaA	p.K75K	AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA|CHMP2A_ENST00000312547.2_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	75					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGAACACAAACTTCCCACTCT	0.567																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(223-225)aaG>aaA		ubiquitin-conjugating enzyme E2M							50.0	50.0	50.0					19																	59068277		2203	4300	6503	SO:0001819	synonymous_variant	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59068277C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.225G>A	19.37:g.59068277C>T							p.K75K	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	803	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	75					O76069|Q8VC50	Silent	SNP	ENST00000253023.3	37	c.225G>A	CCDS12987.1																																																																																				0.567	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		25	10	0	0	0	0.099896	0	25	10				
OR2L2	26246	broad.mit.edu	37	1	248202502	248202502	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:248202502A>C	ENST00000366479.2	+	1	1029	c.933A>C	c.(931-933)aaA>aaC	p.K311N	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTCAGTGAAAATGTAGACAT	0.443																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(931-933)aaA>aaC		olfactory receptor, family 2, subfamily L, member 2							61.0	60.0	60.0					1																	248202502		2203	4298	6501	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202502A>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.933A>C	1.37:g.248202502A>C	ENSP00000355435:p.Lys311Asn					OR2L13_ENST00000366478.2_Intron	p.K311N	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	1029	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		311					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.933A>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	8.776	0.927116	0.18056	.	.	ENSG00000203663	ENST00000366479	T	0.08193	3.12	2.43	-0.74	0.11115	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.40739	-0.9547	9	0.56958	D	0.05	.	2.9496	0.05858	0.6549:0.0:0.1337:0.2114	.	311	Q8NH16	OR2L2_HUMAN	N	311	ENSP00000355435:K311N	ENSP00000355435:K311N	K	+	3	2	OR2L2	246269125	0.011000	0.17503	0.002000	0.10522	0.066000	0.16364	1.074000	0.30703	-0.050000	0.13356	0.163000	0.16589	AAA		0.443	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		7	69	0	0	0	0.038147	0	7	69				
TTN	7273	broad.mit.edu	37	2	179581995	179581995	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:179581995C>A	ENST00000591111.1	-	86	24739	c.24515G>T	c.(24514-24516)tGg>tTg	p.W8172L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.W8489L|TTN_ENST00000342992.6_Missense_Mutation_p.W7245L			Q8WZ42	TITIN_HUMAN	titin	12356	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTGGCCCAAGTGATTTT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25465-25467)tGg>tTg		titin							74.0	75.0	75.0					2																	179581995		1893	4118	6011	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179581995C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24515G>T	2.37:g.179581995C>A	ENSP00000465570:p.Trp8172Leu					TTN_ENST00000342992.6_Missense_Mutation_p.W7245L|TTN_ENST00000591111.1_Missense_Mutation_p.W8172L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	p.W8489L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	25690	-			8172			Ig-like 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25466G>T		.	.	.	.	.	.	.	.	.	.	C	14.47	2.546004	0.45383	.	.	ENSG00000155657	ENST00000342992	D	0.96265	-3.96	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.99007	0.9661	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99116	1.0848	9	0.87932	D	0	.	19.8125	0.96553	0.0:1.0:0.0:0.0	.	8172	Q8WZ42	TITIN_HUMAN	L	7245	ENSP00000343764:W7245L	ENSP00000343764:W7245L	W	-	2	0	TTN	179290240	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.963000	0.70372	2.745000	0.94114	0.655000	0.94253	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	37	1	0	4.3181e-19	0.054565	5.40771e-19	34	37				
KIF13A	63971	broad.mit.edu	37	6	17764996	17764996	+	Missense_Mutation	SNP	C	C	A	rs184686655	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr6:17764996C>A	ENST00000259711.6	-	39	4868	c.4763G>T	c.(4762-4764)cGt>cTt	p.R1588L	KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1540L	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1588					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTAGGGCTACGGGACACTTC	0.502																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(4618-4620)cGt>cTt		kinesin family member 13A							84.0	83.0	84.0					6																	17764996		2003	4165	6168	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764996C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4763G>T	6.37:g.17764996C>A	ENSP00000259711:p.Arg1588Leu					KIF13A_ENST00000259711.6_Missense_Mutation_p.R1588L|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1553L|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1540L|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1553L	p.R1540L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		37	4618	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1588					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4619G>T	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062335	0.93898	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	6.07	6.07	0.98685	.	0.275476	0.29280	N	0.012608	T	0.51278	0.1665	L	0.34521	1.04	0.58432	D	0.999997	D;P;D;P	0.71674	0.998;0.946;0.994;0.946	D;P;P;P	0.75484	0.986;0.614;0.83;0.614	T	0.24261	-1.0165	10	0.23891	T	0.37	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	1540;1553;1588;1540	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	L	1540;592;1588;1553;1540;1553	ENSP00000368091:R1540L;ENSP00000425616:R592L;ENSP00000259711:R1588L;ENSP00000368103:R1553L;ENSP00000368120:R1540L;ENSP00000368093:R1553L	ENSP00000259711:R1588L	R	-	2	0	KIF13A	17872975	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.469000	0.80959	2.890000	0.99128	0.585000	0.79938	CGT		0.502	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			11	6	1	0	3.86212e-05	0.069234	4.27706e-05	11	6				
CACNA1G	8913	broad.mit.edu	37	17	48699024	48699024	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:48699024C>A	ENST00000359106.5	+	35	5929	c.5929C>A	c.(5929-5931)Cct>Act	p.P1977T	CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1943T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000360761.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1977					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTCTAGATCCCTCTAGCTGA	0.562																																						ENST00000354983.4																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5827-5829)Cct>Act		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						100.0	97.0	98.0					17																	48699024		2135	4225	6360	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48699024C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5929C>A	17.37:g.48699024C>A	ENSP00000352011:p.Pro1977Thr					CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1977T|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1966T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1906T|CACNA1G_ENST00000358244.5_Intron	p.P1943T	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6199	+	Breast(11;6.7e-17)		1977					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5827C>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	15.59	2.879137	0.51801	.	.	ENSG00000006283	ENST00000354983;ENST00000502264;ENST00000507336;ENST00000359106	T;D;T;T	0.98280	0.61;-4.84;0.61;0.61	4.97	3.98	0.46160	.	5.198900	0.00166	N	0.000014	D	0.96457	0.8844	N	0.22421	0.69	0.43657	D	0.996077	B;P;B;B	0.34562	0.069;0.457;0.137;0.102	B;B;B;B	0.33890	0.082;0.172;0.147;0.034	T	0.82261	-0.0545	10	0.66056	D	0.02	.	15.427	0.75061	0.0:0.8606:0.1394:0.0	.	1906;1966;1954;1977	O43497-10;Q19QZ7;O43497-4;O43497	.;.;.;CAC1G_HUMAN	T	1943;1906;1966;1977	ENSP00000347078:P1943T;ENSP00000425522:P1906T;ENSP00000420918:P1966T;ENSP00000352011:P1977T	ENSP00000347078:P1943T	P	+	1	0	CACNA1G	46054023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.369000	0.59511	1.036000	0.39998	0.655000	0.94253	CCT		0.562	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		13	28	1	0	9.31168e-06	0.105934	1.0398e-05	13	28				
DOCK6	57572	broad.mit.edu	37	19	11323947	11323947	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:11323947G>A	ENST00000294618.7	-	35	4407	c.4396C>T	c.(4396-4398)Ctc>Ttc	p.L1466F	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1466					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGTCGTAGGAGCCTCAGGCAC	0.652																																						ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(4396-4398)Ctc>Ttc		dedicator of cytokinesis 6							34.0	43.0	40.0					19																	11323947		2186	4289	6475	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11323947G>A		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.4396C>T	19.37:g.11323947G>A	ENSP00000294618:p.Leu1466Phe					DOCK6_ENST00000319867.7_Missense_Mutation_p.L805F|CTC-510F12.2_ENST00000588634.1_RNA	p.L1466F	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			35	4407	-			1466					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.4396C>T	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735935	0.89482	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.64991	-0.13;-0.13	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81941	0.4929	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.986	D	0.85655	0.1285	10	0.87932	D	0	-34.8798	17.1473	0.86769	0.0:0.0:1.0:0.0	.	805;1466	C9IZV6;Q96HP0	.;DOCK6_HUMAN	F	1466;805	ENSP00000294618:L1466F;ENSP00000321556:L805F	ENSP00000294618:L1466F	L	-	1	0	DOCK6	11184947	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.823000	0.86660	2.350000	0.79820	0.650000	0.86243	CTC		0.652	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		12	30	0	0	0	0.080935	0	12	30				
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579755.1_Silent_p.L124L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(328-330)tGg>tAg		cyclin-dependent kinase inhibitor 2A							18.0	20.0	20.0					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971029C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron	p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	599	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		43	5	0	0	0	0.104719	0	43	5				
TNRC18	84629	broad.mit.edu	37	7	5391493	5391493	+	Silent	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:5391493C>T	ENST00000430969.1	-	17	5775	c.5427G>A	c.(5425-5427)gcG>gcA	p.A1809A	TNRC18_ENST00000399537.4_Silent_p.A1809A	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1809							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AGGAGGAACGCGCCTCGGCCT	0.592																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(5425-5427)gcG>gcA		trinucleotide repeat containing 18							17.0	16.0	16.0					7																	5391493		1568	3581	5149	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5391493C>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5427G>A	7.37:g.5391493C>T						TNRC18_ENST00000430969.1_Silent_p.A1809A	p.A1809A			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	17	5775	-		Ovarian(82;0.142)	1809					A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.5427G>A	CCDS47534.1																																																																																				0.592	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				15	12	0	0	0	0.146539	0	15	12				
KSR1	8844	broad.mit.edu	37	17	25783823	25783823	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:25783823A>T	ENST00000319524.6	+	1	154	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	KSR1_ENST00000509603.2_Missense_Mutation_p.I52F			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	52					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGACATCTCCATCGGCAGCCT	0.716																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(154-156)Atc>Ttc		kinase suppressor of ras 1							34.0	35.0	35.0					17																	25783823		876	1991	2867	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783823A>T	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.154A>T	17.37:g.25783823A>T	ENSP00000323178:p.Ile52Phe					KSR1_ENST00000509603.2_Missense_Mutation_p.I52F	p.I52F			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	154	+	Lung NSC(42;0.00836)		50					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.154A>T		.	.	.	.	.	.	.	.	.	.	A	18.10	3.549603	0.65311	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	D;D	0.81908	-1.55;-1.54	4.79	3.69	0.42338	.	0.240061	0.35772	N	0.002985	D	0.85805	0.5782	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84695	0.0725	7	0.54805	T	0.06	.	10.5737	0.45214	0.5492:0.4508:0.0:0.0	.	.	.	.	F	52	ENSP00000323178:I52F;ENSP00000438795:I52F	ENSP00000323178:I52F	I	+	1	0	KSR1	22807950	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.004000	0.49513	0.758000	0.33059	0.379000	0.24179	ATC		0.716	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		29	32	0	0	0	0.059317	0	29	32				
TMPO	7112	broad.mit.edu	37	12	98931317	98931317	+	Silent	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:98931317A>T	ENST00000556029.1	+	4	986	c.630A>T	c.(628-630)gtA>gtT	p.V210V	TMPO_ENST00000343315.5_Silent_p.V210V|TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	210	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACTCCAGTAACACTCAAGC	0.388																																						ENST00000556029.1																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(628-630)gtA>gtT		thymopoietin							106.0	97.0	100.0					12																	98931317		2203	4300	6503	SO:0001819	synonymous_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98931317A>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.630A>T	12.37:g.98931317A>T						TMPO_ENST00000393053.2_Silent_p.V210V|TMPO_ENST00000261210.5_Silent_p.V210V|TMPO_ENST00000343315.5_Silent_p.V210V	p.V210V	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN			4	986	+			210			NAKAP95-binding N.|Nucleoplasmic (Potential).		A2T926|Q14861	Silent	SNP	ENST00000556029.1	37	c.630A>T	CCDS31879.1																																																																																				0.388	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		7	14	0	0	0	0.029380	0	7	14				
KIAA1958	158405	broad.mit.edu	37	9	115407987	115407987	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr9:115407987A>G	ENST00000337530.6	+	3	1525	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G	KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	410										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GACTTGAATGATCTGTGTACC	0.383																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(1228-1230)gAt>gGt		KIAA1958							112.0	92.0	99.0					9																	115407987		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115407987A>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1229A>G	9.37:g.115407987A>G	ENSP00000336940:p.Asp410Gly					KIAA1958_ENST00000536272.1_Missense_Mutation_p.D438G	p.D410G	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			3	1525	+			410					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1229A>G	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005824	0.35415	.	.	ENSG00000165185	ENST00000337530;ENST00000536272	T	0.42900	0.96	5.5	4.37	0.52481	.	.	.	.	.	T	0.26159	0.0638	N	0.19112	0.55	0.22511	N	0.999039	B;B	0.30482	0.281;0.0	B;B	0.27076	0.076;0.0	T	0.14615	-1.0466	9	0.21014	T	0.42	.	9.7311	0.40361	0.9157:0.0:0.0843:0.0	.	438;410	B7ZKW6;Q8N8K9	.;K1958_HUMAN	G	410;438	ENSP00000336940:D410G	ENSP00000336940:D410G	D	+	2	0	KIAA1958	114447808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.365000	0.52335	0.936000	0.37367	0.533000	0.62120	GAT		0.383	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		16	40	0	0	0	0.038395	0	16	40				
BCAP29	55973	broad.mit.edu	37	7	107234422	107234422	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:107234422A>G	ENST00000005259.4	+	4	555	c.216A>G	c.(214-216)aaA>aaG	p.K72K	BCAP29_ENST00000379121.2_5'Flank|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000379119.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000445771.2_Silent_p.K72K	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	72					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGTAAGGAAATATTCCTCAG	0.353																																						ENST00000379119.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						c.(214-216)aaA>aaG		B-cell receptor-associated protein 29							105.0	107.0	106.0					7																	107234422		2203	4300	6503	SO:0001819	synonymous_variant	55973				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane		g.chr7:107234422A>G		CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.216A>G	7.37:g.107234422A>G						BCAP29_ENST00000465919.1_5'UTR|BCAP29_ENST00000005259.4_Silent_p.K72K|BCAP29_ENST00000379117.2_Silent_p.K72K|BCAP29_ENST00000445771.2_Silent_p.K72K|BCAP29_ENST00000494086.1_3'UTR	p.K72K	NM_001008405.2	NP_001008405.1	Q9UHQ4	BAP29_HUMAN			3	230	+			72					G5E9L4|O95003	Silent	SNP	ENST00000005259.4	37	c.216A>G	CCDS34731.1																																																																																				0.353	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844		49	33	0	0	0	0.139131	0	49	33				
VWA3A	146177	broad.mit.edu	37	16	22134933	22134933	+	Splice_Site	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:22134933G>T	ENST00000389398.5	+	16	1533		c.e16-1		VWA3A_ENST00000389397.4_Splice_Site	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A							extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACTTCTGCAGCAACAGCTCA	0.572																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.e16-1		von Willebrand factor A domain containing 3A							87.0	89.0	88.0					16																	22134933		2014	4176	6190	SO:0001630	splice_region_variant	146177					extracellular region		g.chr16:22134933G>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1438-1G>T	16.37:g.22134933G>T						VWA3A_ENST00000389398.5_Splice_Site				A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	16	1533	+								A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Splice_Site	SNP	ENST00000389398.5	37		CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636310	0.29068	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VWA3A	22042434	1.000000	0.71417	1.000000	0.80357	0.025000	0.11179	6.690000	0.74567	2.763000	0.94921	0.563000	0.77884	.		0.572	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		Intron	38	85	1	0	2.35968e-33	0.080422	3.19392e-33	38	85				
HDGFRP2	84717	broad.mit.edu	37	19	4498321	4498321	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:4498321A>G	ENST00000301284.4	+	12	1485	c.1421A>G	c.(1420-1422)aAg>aGg	p.K474R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		474					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTGGAGGAGAAGCTGCAGAAG	0.647																																						ENST00000301284.4																			0											c.(1420-1422)aAg>aGg									43.0	45.0	45.0					19																	4498321		2003	4180	6183	SO:0001583	missense	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4498321A>G																												ENST00000301284.4:c.1421A>G	19.37:g.4498321A>G	ENSP00000301284:p.Lys474Arg					HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K474R	p.K474R	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN			12	1485	+			474					I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.1421A>G	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.524460	0.27299	.	.	ENSG00000167674	ENST00000301284	T	0.46063	0.88	4.95	2.8	0.32819	Transcription factor IIS, N-terminal (1);	0.108894	0.64402	N	0.000011	T	0.17280	0.0415	N	0.08118	0	0.25949	N	0.98278	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.29549	-1.0008	10	0.05351	T	0.99	.	8.1796	0.31302	0.8215:0.0:0.1785:0.0	.	474;474	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	R	474	ENSP00000301284:K474R	ENSP00000301284:K474R	K	+	2	0	AC011498.1	4449321	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.408000	0.44574	0.753000	0.32945	0.444000	0.29173	AAG		0.647	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			25	19	0	0	0	0.108266	0	25	19				
LRP1B	53353	broad.mit.edu	37	2	141359067	141359067	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:141359067A>T	ENST00000389484.3	-	42	7912	c.6941T>A	c.(6940-6942)aTg>aAg	p.M2314K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2314					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCTTCTGACATGGTGATGAC	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6940-6942)aTg>aAg		low density lipoprotein receptor-related protein 1B							157.0	131.0	140.0					2																	141359067		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141359067A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6941T>A	2.37:g.141359067A>T	ENSP00000374135:p.Met2314Lys	TSP Lung(27;0.18)					p.M2314K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	42	7912	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2314					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6941T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592750	0.66219	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89681	-2.55	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.113143	0.56097	D	0.000026	T	0.82024	0.4947	N	0.25647	0.755	0.50171	D	0.999856	P	0.42827	0.791	B	0.40864	0.342	T	0.79911	-0.1603	10	0.13470	T	0.59	.	15.0609	0.71951	1.0:0.0:0.0:0.0	.	2314	Q9NZR2	LRP1B_HUMAN	K	2314;2252	ENSP00000374135:M2314K	ENSP00000374135:M2314K	M	-	2	0	LRP1B	141075537	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.230000	0.95299	2.015000	0.59207	0.459000	0.35465	ATG		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	36	0	0	0	0.119110	0	13	36				
SRGAP3	9901	broad.mit.edu	37	3	9055160	9055160	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:9055160C>A	ENST00000383836.3	-	17	2406	c.1979G>T	c.(1978-1980)gGg>gTg	p.G660V	SRGAP3_ENST00000433332.3_5'Flank|SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V|SRGAP3-AS1_ENST00000414633.1_RNA	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	660	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GAGGGTAGGCCCGAAGCAGAT	0.527			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1978-1980)gGg>gTg		SLIT-ROBO Rho GTPase activating protein 3							119.0	105.0	110.0					3																	9055160		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9055160C>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.1979G>T	3.37:g.9055160C>A	ENSP00000373347:p.Gly660Val					SRGAP3_ENST00000360413.3_Missense_Mutation_p.G636V	p.G660V	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	17	2406	-			660			Rho-GAP.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.1979G>T	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850344	0.91277	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.49720	0.77;1.71	5.54	5.54	0.83059	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.79441	0.4446	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.85547	0.1219	10	0.87932	D	0	.	19.075	0.93158	0.0:1.0:0.0:0.0	.	636;660	O43295-2;O43295	.;SRGP2_HUMAN	V	660;636	ENSP00000373347:G660V;ENSP00000353587:G636V	ENSP00000353587:G636V	G	-	2	0	SRGAP3	9030160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.606000	0.88127	0.655000	0.94253	GGG		0.527	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			8	36	1	0	5.18039e-06	0.038147	5.88282e-06	8	36				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	134	0	0	0	0.115264	0	3	134				
PRRX1	5396	broad.mit.edu	37	1	170695536	170695536	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:170695536C>G	ENST00000239461.6	+	3	906	c.593C>G	c.(592-594)cCg>cGg	p.P198R	PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	198					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGCGTCTCCGTACAGGTGA	0.562																																						ENST00000239461.6																			0				large_intestine(2)|ovary(1)	3						c.(592-594)cCg>cGg		paired related homeobox 1							92.0	83.0	86.0					1																	170695536		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170695536C>G	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.593C>G	1.37:g.170695536C>G	ENSP00000239461:p.Pro198Arg					PRRX1_ENST00000497230.2_Missense_Mutation_p.P198R|PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.P198R	p.P198R	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN			3	906	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		198					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.593C>G	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202309	0.79127	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.92805	-2.93;-3.11;-3.01;-1.34	5.39	5.39	0.77823	.	0.055741	0.64402	D	0.000001	D	0.88555	0.6468	M	0.61703	1.905	0.58432	D	0.999998	P;P	0.43431	0.807;0.772	B;B	0.39738	0.308;0.263	D	0.89277	0.3609	10	0.45353	T	0.12	.	17.7361	0.88394	0.0:1.0:0.0:0.0	.	198;198	P54821;P54821-2	PRRX1_HUMAN;.	R	198;198;198;43;43	ENSP00000356734:P198R;ENSP00000239461:P198R;ENSP00000450762:P198R;ENSP00000451225:P43R	ENSP00000239461:P198R	P	+	2	0	PRRX1	168962160	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.500000	0.66943	2.533000	0.85409	0.650000	0.86243	CCG		0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		25	37	0	0	0	0.116897	0	25	37				
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr21:30419482C>A	ENST00000334352.4	+	15	2082	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363																																					Melanoma(92;625 1444 27493 34101 44971)	ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(1849-1851)ttC>ttA		ubiquitin specific peptidase 16							126.0	130.0	129.0					21																	30419482		2203	4300	6503	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30419482C>A	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1851C>A	21.37:g.30419482C>A	ENSP00000334808:p.Phe617Leu					USP16_ENST00000399975.3_Missense_Mutation_p.F616L|USP16_ENST00000399976.2_Missense_Mutation_p.F617L|USP16_ENST00000535828.1_Missense_Mutation_p.F246L	p.F617L	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			15	2082	+			617						Missense_Mutation	SNP	ENST00000334352.4	37	c.1851C>A	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892456	0.72524	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.34072	3.3;3.3;3.3;1.38	4.99	3.03	0.35002	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.52011	1.625	0.58432	D	0.999996	D;D;P;P	0.71674	0.994;0.998;0.955;0.592	D;D;P;P	0.80764	0.968;0.994;0.882;0.849	T	0.44772	-0.9306	10	0.62326	D	0.03	.	6.6131	0.22763	0.0:0.6976:0.0:0.3024	.	246;602;616;617	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	L	616;617;617;246	ENSP00000382857:F616L;ENSP00000382858:F617L;ENSP00000334808:F617L;ENSP00000442855:F246L	ENSP00000334808:F617L	F	+	3	2	USP16	29341353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.598000	0.36740	1.346000	0.45694	0.591000	0.81541	TTC		0.363	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			62	13	1	0	9.4991e-31	0.139131	1.27288e-30	62	13				
TNRC6B	23112	broad.mit.edu	37	22	40658079	40658079	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr22:40658079G>T	ENST00000454349.2	+	4	570	c.359G>T	c.(358-360)gGt>gTt	p.G120V	TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G120V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	120	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CTCCTTGGGGGTGGGGCAGGG	0.632																																						ENST00000454349.2																			0				breast(1)	1						c.(358-360)gGt>gTt		trinucleotide repeat containing 6B							19.0	22.0	21.0					22																	40658079		2060	4190	6250	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40658079G>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.359G>T	22.37:g.40658079G>T	ENSP00000401946:p.Gly120Val					TNRC6B_ENST00000335727.8_Missense_Mutation_p.G120V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.G156V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.G156V	p.G120V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN			4	570	+			120					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.359G>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748727	0.89753	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	L	0.42245	1.32	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.961	P;D;P	0.65323	0.902;0.934;0.804	T	0.49143	-0.8970	10	0.23891	T	0.37	-7.1363	20.5373	0.99239	0.0:0.0:1.0:0.0	.	120;120;156	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	V	156;156;120;120;120	ENSP00000306759:G156V;ENSP00000384795:G156V;ENSP00000401946:G120V;ENSP00000338371:G120V	ENSP00000306759:G156V	G	+	2	0	TNRC6B	38988025	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.405000	0.73272	2.857000	0.98124	0.650000	0.86243	GGT		0.632	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				8	1	1	0	0.00448238	0.047766	0.00480511	8	1				
COL1A2	1278	broad.mit.edu	37	7	94038122	94038122	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:94038122C>A	ENST00000297268.6	+	16	1250	c.779C>A	c.(778-780)gCc>gAc	p.A260D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	260					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTCCCAGGTGCCCCTGGCCCC	0.433										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(778-780)gCc>gAc		collagen, type I, alpha 2	Collagenase(DB00048)						57.0	58.0	58.0					7																	94038122		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038122C>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.779C>A	7.37:g.94038122C>A	ENSP00000297268:p.Ala260Asp	HNSCC(75;0.22)					p.A260D	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		16	1250	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		260					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.779C>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741631	0.69304	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94376	-3.41	5.72	5.72	0.89469	.	0.114600	0.64402	D	0.000020	D	0.91680	0.7370	N	0.17082	0.46	0.58432	D	0.999999	P	0.51791	0.948	P	0.51701	0.677	D	0.91349	0.5103	10	0.41790	T	0.15	.	20.269	0.98464	0.0:1.0:0.0:0.0	.	260	P08123	CO1A2_HUMAN	D	260;261	ENSP00000297268:A260D	ENSP00000297268:A260D	A	+	2	0	COL1A2	93876058	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.831000	0.62752	2.878000	0.98634	0.650000	0.86243	GCC		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		7	63	1	0	1.26484e-09	0.038147	1.4999e-09	7	63				
GIMAP6	474344	broad.mit.edu	37	7	150325295	150325295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:150325295G>A	ENST00000328902.5	-	3	607	c.391C>T	c.(391-393)Caa>Taa	p.Q131*	GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	131	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCCCAGTTGTGTCACCAGG	0.632																																						ENST00000328902.5																			0				endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(391-393)Caa>Taa		GTPase, IMAP family member 6							55.0	58.0	57.0					7																	150325295		2203	4300	6503	SO:0001587	stop_gained	474344						GTP binding	g.chr7:150325295G>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.391C>T	7.37:g.150325295G>A	ENSP00000330374:p.Gln131*					GIMAP6_ENST00000493969.1_Missense_Mutation_p.T56I	p.Q131*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	607	-			131					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Nonsense_Mutation	SNP	ENST00000328902.5	37	c.391C>T	CCDS34778.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.10|17.10	3.302471|3.302471	0.60195|0.60195	.|.	.|.	ENSG00000133561|ENSG00000133561	ENST00000328902;ENST00000392862|ENST00000493969	.|.	.|.	.|.	4.07|4.07	3.17|3.17	0.36434|0.36434	.|.	0.304555|.	0.31612|.	N|.	0.007360|.	.|T	.|0.45175	.|0.1329	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.36768	.|-0.9734	.|5	0.25106|0.87932	T|D	0.35|0	.|.	9.5275|9.5275	0.39173|0.39173	0.0:0.2153:0.7847:0.0|0.0:0.2153:0.7847:0.0	.|.	.|.	.|.	.|.	X|I	131;192|56	.|.	ENSP00000330374:Q131X|ENSP00000418304:T56I	Q|T	-|-	1|2	0|0	GIMAP6|GIMAP6	149956228|149956228	0.000000|0.000000	0.05858|0.05858	0.726000|0.726000	0.30738|0.30738	0.221000|0.221000	0.24807|0.24807	0.669000|0.669000	0.25142|0.25142	0.911000|0.911000	0.36747|0.36747	0.561000|0.561000	0.74099|0.74099	CAA|ACA		0.632	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		17	89	0	0	0	0.033300	0	17	89				
STXBP4	252983	broad.mit.edu	37	17	53120624	53120624	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:53120624G>A	ENST00000376352.2	+	11	1090	c.883G>A	c.(883-885)Gat>Aat	p.D295N	STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	295					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTCAGAAGCAGATGAAATGGA	0.313																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(883-885)Gat>Aat		syntaxin binding protein 4							69.0	67.0	67.0					17																	53120624		2203	4295	6498	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53120624G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.883G>A	17.37:g.53120624G>A	ENSP00000365530:p.Asp295Asn					STXBP4_ENST00000398391.2_Missense_Mutation_p.D220N|STXBP4_ENST00000299341.4_Missense_Mutation_p.D220N|STXBP4_ENST00000434978.2_Missense_Mutation_p.D295N|STXBP4_ENST00000405898.1_Missense_Mutation_p.D295N	p.D295N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			11	1090	+			295					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.883G>A	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492796	0.64074	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.68	4.72	0.59763	.	0.157667	0.56097	N	0.000031	T	0.47432	0.1445	L	0.52126	1.63	0.50171	D	0.999851	P;P;P	0.42456	0.673;0.78;0.476	B;B;B	0.40982	0.187;0.345;0.132	T	0.48917	-0.8992	10	0.51188	T	0.08	-16.0789	10.646	0.45621	0.0878:0.0:0.9122:0.0	.	295;220;295	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	N	295;220;295;295;220	ENSP00000365530:D295N;ENSP00000299341:D220N;ENSP00000385944:D295N;ENSP00000391087:D295N;ENSP00000381427:D220N	ENSP00000299341:D220N	D	+	1	0	STXBP4	50475623	0.996000	0.38824	1.000000	0.80357	0.895000	0.52256	1.652000	0.37313	1.417000	0.47077	0.561000	0.74099	GAT		0.313	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		5	9	0	0	0	0.014758	0	5	9				
OR51A4	401666	broad.mit.edu	37	11	4967665	4967665	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:4967665G>C	ENST00000380373.2	-	1	691	c.666C>G	c.(664-666)atC>atG	p.I222M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTCTTGAGGATCAGGGTGT	0.433																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(664-666)atC>atG		olfactory receptor, family 51, subfamily A, member 4							94.0	81.0	85.0					11																	4967665		2200	4295	6495	SO:0001583	missense	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967665G>C	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.666C>G	11.37:g.4967665G>C	ENSP00000369731:p.Ile222Met					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.I222M	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	691	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	222						Missense_Mutation	SNP	ENST00000380373.2	37	c.666C>G	CCDS31367.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578467	0.28180	.	.	ENSG00000205497	ENST00000380373	T	0.55930	0.49	3.44	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74520	0.3727	H	0.97465	4.01	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62793	-0.6779	9	0.87932	D	0	.	0.5019	0.00581	0.2664:0.1381:0.3171:0.2783	.	222	Q8NGJ6	O51A4_HUMAN	M	222	ENSP00000369731:I222M	ENSP00000369731:I222M	I	-	3	3	OR51A4	4924241	0.000000	0.05858	0.005000	0.12908	0.722000	0.41435	-2.033000	0.01425	-0.440000	0.07211	0.479000	0.44913	ATC		0.433	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		23	13	0	0	0	0.076483	0	23	13				
MUC17	140453	broad.mit.edu	37	7	100676474	100676474	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:100676474A>G	ENST00000306151.4	+	3	1841	c.1777A>G	c.(1777-1779)Act>Gct	p.T593A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	593	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCAACAACTCCTGCTGA	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1777-1779)Act>Gct		mucin 17, cell surface associated							243.0	246.0	245.0					7																	100676474		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676474A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1777A>G	7.37:g.100676474A>G	ENSP00000302716:p.Thr593Ala						p.T593A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1841	+	Lung NSC(181;0.136)|all_lung(186;0.182)		593			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1777A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	3.185	-0.167096	0.06461	.	.	ENSG00000169876	ENST00000306151	T	0.02258	4.37	1.33	-0.0314	0.13910	.	.	.	.	.	T	0.00845	0.0028	N	0.03608	-0.345	0.09310	N	1	P	0.48911	0.917	B	0.35899	0.213	T	0.43393	-0.9394	9	0.09843	T	0.71	.	5.5608	0.17142	0.7178:0.2822:0.0:0.0	.	593	Q685J3	MUC17_HUMAN	A	593	ENSP00000302716:T593A	ENSP00000302716:T593A	T	+	1	0	MUC17	100463194	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	-0.121000	0.10643	0.011000	0.14865	0.324000	0.21423	ACT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	665	0	0	0	0.038147	0	8	665				
PCF11	51585	broad.mit.edu	37	11	82881002	82881002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:82881002C>A	ENST00000298281.4	+	8	4077	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1209					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TATACCTGCTCCAATGACAGT	0.348																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(3625-3627)Cca>Aca		PCF11 cleavage and polyadenylation factor subunit							16.0	16.0	16.0					11																	82881002		1827	4065	5892	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82881002C>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3625C>A	11.37:g.82881002C>A	ENSP00000298281:p.Pro1209Thr						p.P1209T	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			8	4077	+			1209					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3625C>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791301	0.50102	.	.	ENSG00000165494	ENST00000298281	T	0.27104	1.69	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000015	T	0.19805	0.0476	L	0.27053	0.805	0.38611	D	0.950896	B	0.30068	0.267	B	0.28139	0.086	T	0.07908	-1.0748	9	.	.	.	-10.4054	16.3795	0.83443	0.0:1.0:0.0:0.0	.	1209	O94913	PCF11_HUMAN	T	1209	ENSP00000298281:P1209T	.	P	+	1	0	PCF11	82558650	0.879000	0.30193	0.977000	0.42913	0.981000	0.71138	1.103000	0.31062	2.941000	0.99782	0.655000	0.94253	CCA		0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		12	14	1	0	3.07112e-06	0.080935	3.51735e-06	12	14				
ADAMTSL3	57188	broad.mit.edu	37	15	84582032	84582032	+	Missense_Mutation	SNP	C	C	A	rs200247659		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr15:84582032C>A	ENST00000286744.5	+	16	2113	c.1889C>A	c.(1888-1890)gCc>gAc	p.A630D	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	630						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGAGCCCGGCCTCCCGAGAG	0.612																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(1888-1890)gCc>gAc		ADAMTS-like 3							52.0	48.0	50.0					15																	84582032		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84582032C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1889C>A	15.37:g.84582032C>A	ENSP00000286744:p.Ala630Asp					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A630D	p.A630D	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2113	+			630					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1889C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.327000	0.01309	.	.	ENSG00000156218	ENST00000286744	T	0.64618	-0.11	4.38	-1.62	0.08372	.	1.688900	0.03234	N	0.179392	T	0.42200	0.1192	N	0.19112	0.55	0.09310	N	1	B;B	0.24823	0.0;0.112	B;B	0.22386	0.008;0.039	T	0.12016	-1.0564	10	0.12430	T	0.62	.	5.2487	0.15510	0.1543:0.2586:0.0:0.5871	.	630;630	P82987-2;P82987	.;ATL3_HUMAN	D	630	ENSP00000286744:A630D	ENSP00000286744:A630D	A	+	2	0	ADAMTSL3	82373036	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.503000	0.22610	-0.552000	0.06167	-0.251000	0.11542	GCC		0.612	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		58	14	1	0	6.60958e-23	0.139131	8.59887e-23	58	14				
KIF21B	23046	broad.mit.edu	37	1	200967679	200967679	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:200967679G>A	ENST00000422435.2	-	14	2226	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000332129.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	637					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						AGTCAGGTCGGCCAGGTCCGC	0.587																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1909-1911)gCc>gTc		kinesin family member 21B							77.0	72.0	74.0					1																	200967679		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200967679G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1910C>T	1.37:g.200967679G>A	ENSP00000411831:p.Ala637Val					KIF21B_ENST00000461742.2_Missense_Mutation_p.A637V|KIF21B_ENST00000422435.2_Missense_Mutation_p.A637V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A637V	p.A637V	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			14	2226	-			637					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1910C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	34	5.376397	0.95945	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.17	5.17	0.71159	.	0.122077	0.56097	D	0.000037	T	0.60287	0.2257	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.997;0.998	D;D;D;D	0.80764	0.985;0.994;0.985;0.994	T	0.62732	-0.6792	10	0.42905	T	0.14	.	18.7216	0.91697	0.0:0.0:1.0:0.0	.	637;637;637;637	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	637	ENSP00000328494:A637V;ENSP00000353724:A637V;ENSP00000433808:A637V;ENSP00000411831:A637V	ENSP00000328494:A637V	A	-	2	0	KIF21B	199234302	1.000000	0.71417	0.955000	0.39395	0.899000	0.52679	9.416000	0.97383	2.408000	0.81797	0.555000	0.69702	GCC		0.587	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		31	44	0	0	0	0.059317	0	31	44				
ADCY1	107	broad.mit.edu	37	7	45614734	45614734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:45614734G>T	ENST00000297323.7	+	1	614	c.592G>T	c.(592-594)Gtc>Ttc	p.V198F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	198					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCACTTGCTGGTCACAGCCAC	0.642																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(592-594)Gtc>Ttc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						21.0	20.0	20.0					7																	45614734		2196	4283	6479	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45614734G>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.592G>T	7.37:g.45614734G>T	ENSP00000297323:p.Val198Phe					ADCY1_ENST00000432715.1_5'UTR	p.V198F	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			1	614	+			198					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.592G>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677590	0.47886	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.81996	-1.56	3.7	2.81	0.32909	.	0.000000	0.64402	D	0.000003	T	0.79399	0.4439	M	0.61703	1.905	0.51767	D	0.999936	B	0.33841	0.428	B	0.37550	0.253	T	0.73962	-0.3817	10	0.35671	T	0.21	.	8.7711	0.34733	0.1156:0.0:0.8844:0.0	.	198	Q08828	ADCY1_HUMAN	F	198	ENSP00000297323:V198F	ENSP00000297323:V198F	V	+	1	0	ADCY1	45581259	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	4.705000	0.61838	0.738000	0.32606	0.205000	0.17691	GTC		0.642	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		17	27	1	0	2.5808e-16	0.038395	3.14388e-16	17	27				
HYAL4	23553	broad.mit.edu	37	7	123508362	123508362	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:123508362G>A	ENST00000223026.4	+	3	673	c.35G>A	c.(34-36)tGt>tAt	p.C12Y	HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	12					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTAAAGCTTTGTGTTGTTCAA	0.348																																						ENST00000223026.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(34-36)tGt>tAt		hyaluronoglucosaminidase 4							122.0	129.0	127.0					7																	123508362		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508362G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.35G>A	7.37:g.123508362G>A	ENSP00000223026:p.Cys12Tyr					HYAL4_ENST00000476325.1_Missense_Mutation_p.C12Y	p.C12Y	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN			3	673	+			12					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.35G>A	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.847951	0.00568	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.16196	2.36;2.36	5.2	-0.349	0.12609	.	0.441173	0.24452	N	0.038401	T	0.06280	0.0162	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32107	-0.9919	10	0.25106	T	0.35	-1.549	4.6648	0.12660	0.5537:0.0:0.2811:0.1652	.	12;12	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	Y	12	ENSP00000223026:C12Y;ENSP00000417186:C12Y	ENSP00000223026:C12Y	C	+	2	0	HYAL4	123295598	0.000000	0.05858	0.444000	0.26895	0.062000	0.15995	-0.578000	0.05841	0.048000	0.15891	-0.140000	0.14226	TGT		0.348	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		42	75	0	0	0	0.111260	0	42	75				
LIG4	3981	broad.mit.edu	37	13	108861972	108861972	+	Missense_Mutation	SNP	T	T	A	rs563401216		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr13:108861972T>A	ENST00000356922.4	-	2	1917	c.1645A>T	c.(1645-1647)Att>Ttt	p.I549F	LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	549					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGGTTCAATGTATACTTCT	0.403								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1645-1647)Att>Ttt	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							103.0	102.0	103.0					13																	108861972		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861972T>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1645A>T	13.37:g.108861972T>A	ENSP00000349393:p.Ile549Phe					LIG4_ENST00000405925.1_Missense_Mutation_p.I549F|LIG4_ENST00000442234.1_Missense_Mutation_p.I549F	p.I549F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1917	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		549					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1645A>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297656	0.60086	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.63580	-0.05;-0.05;-0.05	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69045	-0.5249	10	0.26408	T	0.33	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	549	P49917	DNLI4_HUMAN	F	549	ENSP00000385955:I549F;ENSP00000402030:I549F;ENSP00000349393:I549F	ENSP00000349393:I549F	I	-	1	0	LIG4	107659973	1.000000	0.71417	0.989000	0.46669	0.967000	0.64934	4.058000	0.57463	2.178000	0.69098	0.450000	0.29827	ATT		0.403	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		34	13	0	0	0	0.059317	0	34	13				
BAGE2	85319	broad.mit.edu	37	21	11098870	11098870	+	RNA	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr21:11098870C>A	ENST00000470054.1	-	0	55							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)		ccaactcccccttctcctggt	0.622																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098870C>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.11098870C>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	55	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.622	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	14	1	0	5.50884e-06	0.093190	6.20323e-06	11	14				
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:18625006G>A	ENST00000432645.2	+	2	125	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(124-126)cGt>cAt		histone deacetylase 9	Valproic Acid(DB00313)						94.0	94.0	94.0					7																	18625006		1970	4179	6149	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18625006G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.125G>A	7.37:g.18625006G>A	ENSP00000410337:p.Arg42His					HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H	p.R42H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			3	275	+	all_lung(11;0.187)		42					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.125G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	HDAC9	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			48	87	0	0	0	0.139131	0	48	87				
CDK13	8621	broad.mit.edu	37	7	40037230	40037230	+	Missense_Mutation	SNP	C	C	G	rs34775357	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:40037230C>G	ENST00000181839.4	+	3	2614	c.2009C>G	c.(2008-2010)aCa>aGa	p.T670R	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T670R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	670			T -> R (in dbSNP:rs34775357). {ECO:0000269|PubMed:17344846}.		alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.T670R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GAAAAGAAAACAGCAACACAG	0.433													C|||	8	0.00159744	0.0	0.0029	5008	,	,		15171	0.0		0.005	False		,,,				2504	0.001					ENST00000181839.4																			1	Substitution - Missense(1)	p.T670R(1)	lung(1)	cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.(2008-2010)aCa>aGa		cyclin-dependent kinase 13		C	ARG/THR,ARG/THR	3,4403	6.2+/-15.9	0,3,2200	124.0	131.0	128.0		2009,2009	4.9	1.0	7	dbSNP_126	128	54,8546	34.3+/-88.2	2,50,4248	yes	missense,missense	CDK13	NM_003718.4,NM_031267.3	71,71	2,53,6448	GG,GC,CC		0.6279,0.0681,0.4383	possibly-damaging,possibly-damaging	670/1513,670/1453	40037230	57,12949	2203	4300	6503	SO:0001583	missense	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40037230C>G	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2009C>G	7.37:g.40037230C>G	ENSP00000181839:p.Thr670Arg					CDK13_ENST00000340829.5_Missense_Mutation_p.T670R|CDK13_ENST00000484589.1_3'UTR	p.T670R	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			3	2614	+			670		T -> R (in dbSNP:rs34775357).			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	c.2009C>G	CCDS5461.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	C	15.33	2.802065	0.50315	6.81E-4	0.006279	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.70516	-0.49;-0.46	4.94	4.94	0.65067	.	.	.	.	.	T	0.56247	0.1972	L	0.50333	1.59	0.31811	N	0.627174	B;P;P	0.44195	0.262;0.828;0.788	B;B;B	0.39660	0.147;0.221;0.306	T	0.68078	-0.5504	8	.	.	.	-2.2586	11.6457	0.51259	0.0:0.9165:0.0:0.0835	rs34775357	56;670;670	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	R	670	ENSP00000181839:T670R;ENSP00000340557:T670R	.	T	+	2	0	CDK13	40003755	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.191000	0.50981	2.440000	0.82611	0.591000	0.81541	ACA		0.433	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718		3	123	0	0	0	0.115264	0	3	123				
SNHG14	104472715	broad.mit.edu	37	15	25444646	25444646	+	RNA	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr15:25444646A>T	ENST00000424208.1	+	0	1811				SNORD115-17_ENST00000364612.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGACTTAAAAATCATGCTCA	0.478																																						ENST00000424208.1																			0																				397.0	410.0	406.0					15																	25444646		876	1989	2865			104472715							g.chr15:25444646A>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25444646A>T						SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA		NR_003305.1						0	1811	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.478	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	348	0	0	0	0.047766	0	7	348				
HIST1H2AE	3012	broad.mit.edu	37	6	26217266	26217266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr6:26217266G>A	ENST00000303910.2	+	1	102	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	22						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TTCTTCCAGGGCCGGTCTTCA	0.577																																						ENST00000303910.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10						c.(64-66)Gcc>Acc		histone cluster 1, H2ae							64.0	55.0	58.0					6																	26217266		2203	4299	6502	SO:0001583	missense	3012				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26217266G>A	M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.64G>A	6.37:g.26217266G>A	ENSP00000303373:p.Ala22Thr						p.A22T	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN			1	102	+		all_hematologic(11;0.196)	22					P28001|Q76P63	Missense_Mutation	SNP	ENST00000303910.2	37	c.64G>A	CCDS4595.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626197	0.28978	.	.	ENSG00000168274	ENST00000303910	T	0.70282	-0.47	3.99	3.99	0.46301	.	0.000000	0.33753	U	0.004593	D	0.83138	0.5189	M	0.90145	3.09	0.52099	D	0.999944	.	.	.	.	.	.	D	0.87294	0.2301	8	0.87932	D	0	.	15.5885	0.76506	0.0:0.0:1.0:0.0	.	.	.	.	T	22	ENSP00000303373:A22T	ENSP00000303373:A22T	A	+	1	0	HIST1H2AE	26325245	1.000000	0.71417	0.529000	0.27951	0.025000	0.11179	9.415000	0.97375	2.219000	0.72066	0.591000	0.81541	GCC		0.577	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040103.1	NM_021052		22	12	0	0	0	0.055883	0	22	12				
PADI4	23569	broad.mit.edu	37	1	17668883	17668883	+	Silent	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:17668883G>A	ENST00000375448.4	+	8	947	c.921G>A	c.(919-921)gaG>gaA	p.E307E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	307					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCGCAGGAGGTGTACGCGT	0.632																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(919-921)gaG>gaA		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						39.0	38.0	38.0					1																	17668883		2203	4300	6503	SO:0001819	synonymous_variant	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668883G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.921G>A	1.37:g.17668883G>A						AC004824.2_ENST00000602074.1_Intron	p.E307E	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	8	947	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	307					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Silent	SNP	ENST00000375448.4	37	c.921G>A	CCDS180.1																																																																																				0.632	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		15	7	0	0	0	0.146539	0	15	7				
THEM5	284486	broad.mit.edu	37	1	151820766	151820766	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:151820766A>C	ENST00000368817.5	-	4	598	c.467T>G	c.(466-468)tTt>tGt	p.F156C	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	156					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGTGAGCAAACCTGGGGGT	0.602																																						ENST00000368817.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15						c.(466-468)tTt>tGt		thioesterase superfamily member 5							38.0	41.0	40.0					1																	151820766		2203	4300	6503	SO:0001583	missense	284486						hydrolase activity	g.chr1:151820766A>C	AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.467T>G	1.37:g.151820766A>C	ENSP00000357807:p.Phe156Cys					AL450992.2_ENST00000434182.1_RNA	p.F156C	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		4	598	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		156					Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	c.467T>G	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.25|12.25	1.880270|1.880270	0.33162|0.33162	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000368817|ENST00000453881	T|.	0.22945|.	1.93|.	5.14|5.14	4.0|4.0	0.46444|0.46444	Thioesterase superfamily (1);|.	0.332930|.	0.32244|.	N|.	0.006375|.	T|T	0.32971|0.32971	0.0847|0.0847	L|L	0.58302|0.58302	1.8|1.8	0.30014|0.30014	N|N	0.814957|0.814957	B|.	0.18461|.	0.028|.	B|.	0.22386|.	0.039|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.42905|.	T|.	0.14|.	-13.0074|-13.0074	9.0539|9.0539	0.36394|0.36394	0.8139:0.1861:0.0:0.0|0.8139:0.1861:0.0:0.0	.|.	156|.	Q8N1Q8|.	THEM5_HUMAN|.	C|V	156|103	ENSP00000357807:F156C|.	ENSP00000357807:F156C|.	F|L	-|-	2|1	0|2	THEM5|THEM5	150087390|150087390	0.998000|0.998000	0.40836|0.40836	0.989000|0.989000	0.46669|0.46669	0.671000|0.671000	0.39405|0.39405	0.943000|0.943000	0.29030|0.29030	0.800000|0.800000	0.34041|0.34041	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.602	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2	NM_182578		13	26	0	0	0	0.083992	0	13	26				
TTC39C	125488	broad.mit.edu	37	18	21703803	21703803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr18:21703803C>T	ENST00000317571.3	+	9	1428	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	TTC39C_ENST00000540918.2_Nonsense_Mutation_p.Q91*|RNU5A-6P_ENST00000384136.1_RNA|RP11-799B12.2_ENST00000583782.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	398										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TACAGTTTGTCAGGGAGCCAC	0.368																																						ENST00000540918.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(271-273)Cag>Tag		tetratricopeptide repeat domain 39C							54.0	52.0	53.0					18																	21703803		2203	4300	6503	SO:0001587	stop_gained	125488						binding	g.chr18:21703803C>T	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1192C>T	18.37:g.21703803C>T	ENSP00000323645:p.Gln398*					TTC39C_ENST00000317571.3_Nonsense_Mutation_p.Q398*|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.Q337*	p.Q91*			Q8N584	TT39C_HUMAN			4	521	+			398					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Nonsense_Mutation	SNP	ENST00000317571.3	37	c.271C>T	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	C	37	6.045432	0.97231	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	.	.	.	X	337;398;91	.	ENSP00000306598:Q337X	Q	+	1	0	TTC39C	19957801	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.487000	0.81328	2.831000	0.97527	0.655000	0.94253	CAG		0.368	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		12	22	0	0	0	0.105934	0	12	22				
OR4C6	219432	broad.mit.edu	37	11	55432771	55432771	+	Silent	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:55432771T>C	ENST00000314259.3	+	1	158	c.129T>C	c.(127-129)atT>atC	p.I43I		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTACTTATTGTGGTAACTA	0.408																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(127-129)atT>atC		olfactory receptor, family 4, subfamily C, member 6							258.0	232.0	241.0					11																	55432771		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432771T>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.129T>C	11.37:g.55432771T>C							p.I43I	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	158	+			43					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.129T>C	CCDS31506.1																																																																																				0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		82	66	0	0	0	0.139131	0	82	66				
ASNS	440	broad.mit.edu	37	7	97488686	97488686	+	Missense_Mutation	SNP	G	G	A	rs138299423		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:97488686G>A	ENST00000394309.3	-	5	983	c.512C>T	c.(511-513)gCg>gTg	p.A171V	ASNS_ENST00000422745.1_Missense_Mutation_p.A150V|ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000175506.4_Missense_Mutation_p.A171V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	171	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAAGGGAGTCGCGGAGTGCTT	0.368																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(511-513)gCg>gTg		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	73.0	72.0		449,263,263,512,512,512	-6.0	0.0	7	dbSNP_134	72	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	ASNS	NM_001178075.1,NM_001178076.1,NM_001178077.1,NM_001673.4,NM_133436.3,NM_183356.3	64,64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	150/541,88/479,88/479,171/562,171/562,171/562	97488686	1,13005	2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97488686G>A	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.512C>T	7.37:g.97488686G>A	ENSP00000377846:p.Ala171Val					ASNS_ENST00000437628.1_Missense_Mutation_p.A88V|ASNS_ENST00000394308.3_Missense_Mutation_p.A171V|ASNS_ENST00000394309.3_Missense_Mutation_p.A171V|ASNS_ENST00000444334.1_Missense_Mutation_p.A150V|ASNS_ENST00000422745.1_Missense_Mutation_p.A150V|ASNS_ENST00000455086.1_Missense_Mutation_p.A88V	p.A171V	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			6	1040	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		171			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.512C>T	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	G	1.962	-0.438607	0.04636	2.27E-4	0.0	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734	T;T;T;T;T;T;T;T	0.47528	0.88;0.88;0.84;0.88;0.88;0.84;0.88;0.97	4.61	-5.96	0.02234	Glutamine amidotransferase, type II (1);	1.053790	0.07392	N	0.889216	T	0.27967	0.0689	L	0.35644	1.08	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.20605	-1.0270	10	0.16420	T	0.52	0.4036	4.3275	0.11046	0.5989:0.116:0.1679:0.1172	.	171	P08243	ASNS_HUMAN	V	171;171;88;171;150;88;150;171	ENSP00000175506:A171V;ENSP00000377846:A171V;ENSP00000414379:A88V;ENSP00000377845:A171V;ENSP00000414901:A150V;ENSP00000408472:A88V;ENSP00000406994:A150V;ENSP00000400422:A171V	ENSP00000175506:A171V	A	-	2	0	ASNS	97326622	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.486000	0.22340	-1.342000	0.02222	-1.174000	0.01732	GCG		0.368	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		39	63	0	0	0	0.080422	0	39	63				
KCNJ12	3768	broad.mit.edu	37	17	21319078	21319078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:21319078A>T	ENST00000583088.1	+	3	1319	c.424A>T	c.(424-426)Acc>Tcc	p.T142S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	142				T -> N (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGAGACGCAGACCACCATCGG	0.657										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(424-426)Acc>Tcc		potassium inwardly-rectifying channel, subfamily J, member 12							46.0	45.0	45.0					17																	21319078		2202	4300	6502	SO:0001583	missense	3768							g.chr17:21319078A>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.424A>T	17.37:g.21319078A>T	ENSP00000463778:p.Thr142Ser	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.T142S	p.T142S	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1319	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.424A>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040687	0.55003	.	.	ENSG00000184185	ENST00000331718	D	0.96830	-4.14	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.054946	0.64402	D	0.000001	D	0.95503	0.8539	M	0.76433	2.335	0.80722	D	1	P	0.39717	0.684	B	0.39258	0.295	D	0.95087	0.8218	10	0.41790	T	0.15	.	15.1094	0.72343	1.0:0.0:0.0:0.0	.	142	Q14500	IRK12_HUMAN	S	142	ENSP00000328150:T142S	ENSP00000328150:T142S	T	+	1	0	KCNJ12	21259671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.974000	0.76122	1.981000	0.57761	0.482000	0.46254	ACC		0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		13	63	0	0	0	0.119110	0	13	63				
ARID3A	1820	broad.mit.edu	37	19	971943	971943	+	Missense_Mutation	SNP	G	G	C	rs200079740	byFrequency	TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:971943G>C	ENST00000263620.3	+	9	1987	c.1660G>C	c.(1660-1662)Ggc>Cgc	p.G554R		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	554	Gly-rich.|Important for cytoplasmic localization. {ECO:0000250}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		Aggcggcggcggcggcggcag	0.667																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(1660-1662)Ggc>Cgc		AT rich interactive domain 3A (BRIGHT-like)							23.0	30.0	27.0					19																	971943		2198	4285	6483	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:971943G>C	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1660G>C	19.37:g.971943G>C	ENSP00000263620:p.Gly554Arg						p.G554R	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1987	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	554			Gly-rich.|Important for cytoplasmic localization (By similarity).		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.1660G>C	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	-	7.776	0.708398	0.15239	.	.	ENSG00000116017	ENST00000263620	T	0.40476	1.03	4.91	-4.77	0.03219	.	1.561180	0.03550	N	0.225305	T	0.15912	0.0383	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.17018	-1.0383	10	0.16896	T	0.51	.	7.1068	0.25368	0.3652:0.0:0.5056:0.1292	.	554	Q99856	ARI3A_HUMAN	R	554	ENSP00000263620:G554R	ENSP00000263620:G554R	G	+	1	0	ARID3A	922943	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.079000	0.01369	-1.207000	0.02637	-0.219000	0.12488	GGC		0.667	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		16	47	0	0	0	0.146539	0	16	47				
ISLR2	57611	broad.mit.edu	37	15	74425610	74425610	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr15:74425610C>A	ENST00000361742.3	+	4	1284	c.515C>A	c.(514-516)gCg>gAg	p.A172E	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	172					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCGCTTAGCGCGCTGTCACAC	0.667																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(514-516)gCg>gAg		immunoglobulin superfamily containing leucine-rich repeat 2							56.0	64.0	61.0					15																	74425610		2198	4293	6491	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425610C>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.515C>A	15.37:g.74425610C>A	ENSP00000355402:p.Ala172Glu					ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172E|ISLR2_ENST00000453268.2_Missense_Mutation_p.A172E|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172E|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172E|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172E|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172E	p.A172E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	1284	+			172					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.515C>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458275	0.84317	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	4.46	4.46	0.54185	.	0.158495	0.42821	U	0.000650	T	0.65037	0.2653	L	0.35341	1.055	0.54753	D	0.999988	D	0.57257	0.979	D	0.63283	0.913	T	0.67952	-0.5537	10	0.51188	T	0.08	.	17.1202	0.86700	0.0:1.0:0.0:0.0	.	172	Q6UXK2	ISLR2_HUMAN	E	172	ENSP00000403244:A172E;ENSP00000355402:A172E;ENSP00000411443:A172E;ENSP00000411834:A172E;ENSP00000408872:A172E	ENSP00000355402:A172E	A	+	2	0	ISLR2	72212663	0.997000	0.39634	0.995000	0.50966	0.942000	0.58702	5.819000	0.69243	2.042000	0.60477	0.407000	0.27541	GCG		0.667	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		81	10	1	0	1.15773e-35	0.139131	1.58302e-35	81	10				
PPP2R5C	5527	broad.mit.edu	37	14	102391561	102391561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:102391561G>C	ENST00000334743.5	+	14	1575	c.1527G>C	c.(1525-1527)ttG>ttC	p.L509F	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.L540F	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	509					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAAAGCCTTGGAAGCTCACT	0.637																																						ENST00000422945.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1618-1620)ttG>ttC		protein phosphatase 2, regulatory subunit B', gamma							70.0	79.0	76.0					14																	102391561		2203	4300	6503	SO:0001583	missense	5527				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:102391561G>C	L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1527G>C	14.37:g.102391561G>C	ENSP00000333905:p.Leu509Phe					PPP2R5C_ENST00000328724.5_Missense_Mutation_p.L525F|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.L470F|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.L509F	p.L540F	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN			16	1716	+			509					B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000334743.5	37	c.1620G>C	CCDS9964.1	.	.	.	.	.	.	.	.	.	.	G	35	5.554685	0.96501	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334743	T;T;T;T;T	0.61980	0.08;0.44;0.08;0.41;0.06	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82462	0.5042	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.991;0.991	D;D;D;D	0.78314	0.991;0.962;0.938;0.938	T	0.80500	-0.1355	10	0.41790	T	0.15	-4.7663	20.8794	0.99867	0.0:0.0:1.0:0.0	.	540;470;509;525	F5GWP3;Q13362-3;Q13362;Q6ZN33	.;.;2A5G_HUMAN;.	F	540;525;538;470;509	ENSP00000412324:L540F;ENSP00000329009:L525F;ENSP00000450931:L538F;ENSP00000262239:L470F;ENSP00000333905:L509F	ENSP00000329009:L525F	L	+	3	2	PPP2R5C	101461314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.062000	0.76706	2.941000	0.99782	0.655000	0.94253	TTG		0.637	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719		64	27	0	0	0	0.139131	0	64	27				
ACBD3	64746	broad.mit.edu	37	1	226340302	226340302	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:226340302G>C	ENST00000366812.5	-	7	1163	c.1109C>G	c.(1108-1110)gCa>gGa	p.A370G	RP11-275I14.4_ENST00000440540.1_RNA|ACBD3_ENST00000464927.1_5'Flank	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	370					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GGATGGAGCTGCTATTACTGG	0.448																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(1108-1110)gCa>gGa		acyl-CoA binding domain containing 3							128.0	134.0	132.0					1																	226340302		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226340302G>C	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1109C>G	1.37:g.226340302G>C	ENSP00000355777:p.Ala370Gly					RP11-275I14.4_ENST00000440540.1_RNA	p.A370G	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	7	1163	-	Breast(184;0.158)		370					B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.1109C>G	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260538	0.59431	.	.	ENSG00000182827	ENST00000366812	T	0.49139	0.79	5.29	5.29	0.74685	.	0.095927	0.64402	D	0.000001	T	0.61974	0.2390	M	0.80028	2.48	0.80722	D	1	P	0.45531	0.86	P	0.48304	0.573	T	0.66304	-0.5957	10	0.49607	T	0.09	-6.0584	18.9418	0.92608	0.0:0.0:1.0:0.0	.	370	Q9H3P7	GCP60_HUMAN	G	370	ENSP00000355777:A370G	ENSP00000355777:A370G	A	-	2	0	ACBD3	224406925	1.000000	0.71417	1.000000	0.80357	0.145000	0.21501	9.397000	0.97276	2.488000	0.83962	0.655000	0.94253	GCA		0.448	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		76	139	0	0	0	0.139131	0	76	139				
HECW1	23072	broad.mit.edu	37	7	43503399	43503399	+	Splice_Site	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:43503399G>A	ENST00000395891.2	+	14	3396		c.e14+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCAGCTTAGGTATTGGAGGA	0.602																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.e14+1		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							112.0	118.0	116.0					7																	43503399		1988	4175	6163	SO:0001630	splice_region_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43503399G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2791+1G>A	7.37:g.43503399G>A						HECW1_ENST00000453890.1_Splice_Site		NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			14	3396	+								A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	ENST00000395891.2	37		CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788932	0.70337	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7781	0.57461	0.0748:0.0:0.9252:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43469924	1.000000	0.71417	0.996000	0.52242	0.792000	0.44763	5.133000	0.64764	2.603000	0.88011	0.655000	0.94253	.		0.602	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	Intron	61	82	0	0	0	0.139131	0	61	82				
NEURL2	140825	broad.mit.edu	37	20	44519288	44519288	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:44519288T>C	ENST00000372518.4	-	1	638	c.343A>G	c.(343-345)Atc>Gtc	p.I115V	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000191018.5_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	115	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGCGCGTGATGGCGAAGACC	0.706																																						ENST00000372518.4																			0				large_intestine(1)|lung(2)	3						c.(343-345)Atc>Gtc		neuralized E3 ubiquitin protein ligase 2							23.0	29.0	27.0					20																	44519288		2195	4293	6488	SO:0001583	missense	140825				intracellular signal transduction			g.chr20:44519288T>C	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.343A>G	20.37:g.44519288T>C	ENSP00000361596:p.Ile115Val						p.I115V	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN			1	638	-		Myeloproliferative disorder(115;0.0122)	115			NHR.		Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	c.343A>G	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394675	0.83011	.	.	ENSG00000124257	ENST00000372518	T	0.53206	0.63	4.83	4.83	0.62350	NEUZ (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	L	0.52206	1.635	0.58432	D	0.999999	D	0.58620	0.983	P	0.51516	0.672	T	0.51663	-0.8677	9	.	.	.	-26.668	14.5774	0.68258	0.0:0.0:0.0:1.0	.	115	Q9BR09	NEUL2_HUMAN	V	115	ENSP00000361596:I115V	.	I	-	1	0	NEURL2	43952695	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.600000	0.67599	2.034000	0.60081	0.459000	0.35465	ATC		0.706	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2			46	9	0	0	0	0.139131	0	46	9				
ATP2A3	489	broad.mit.edu	37	17	3854894	3854894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:3854894G>A	ENST00000352011.3	-	4	359	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000309890.7_Missense_Mutation_p.A102V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	102					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCACAATGGCGTTGGCCAC	0.687																																					GBM(32;29 774 15719 37967)	ENST00000309890.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(304-306)gCc>gTc		ATPase, Ca++ transporting, ubiquitous							35.0	26.0	29.0					17																	3854894		2198	4299	6497	SO:0001583	missense	489				ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr17:3854894G>A		CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.305C>T	17.37:g.3854894G>A	ENSP00000301387:p.Ala102Val					ATP2A3_ENST00000397043.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397035.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000359983.3_Missense_Mutation_p.A102V|ATP2A3_ENST00000397041.3_Missense_Mutation_p.A102V	p.A102V	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN		LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)	4	455	-			102					A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	c.305C>T	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847168	0.91277	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.01	4.01	0.46588	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	M	0.76433	2.335	0.80722	D	1	P;D;D;D;D;D	0.76494	0.758;0.998;0.998;0.999;0.999;0.998	B;D;D;D;D;D	0.69479	0.156;0.94;0.964;0.94;0.94;0.94	D	0.94461	0.7676	10	0.87932	D	0	.	15.6649	0.77221	0.0:0.0:1.0:0.0	.	102;102;102;102;102;102	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	V	102	ENSP00000380236:A102V;ENSP00000301387:A102V;ENSP00000353072:A102V;ENSP00000380234:A102V;ENSP00000312577:A102V;ENSP00000380229:A102V	ENSP00000312577:A102V	A	-	2	0	ATP2A3	3801643	1.000000	0.71417	0.917000	0.36280	0.883000	0.51084	9.640000	0.98453	2.229000	0.72834	0.514000	0.50259	GCC		0.687	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953		10	12	0	0	0	0.058154	0	10	12				
TMEM255A	55026	broad.mit.edu	37	X	119421060	119421060	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chrX:119421060G>T	ENST00000309720.5	-	5	495	c.372C>A	c.(370-372)taC>taA	p.Y124*	TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000371352.1_5'Flank|TMEM255A_ENST00000371369.4_Nonsense_Mutation_p.Y124*	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	124						integral component of membrane (GO:0016021)											ACCGGTTAGCGTAGAGTGGTT	0.448																																						ENST00000371369.4																			0											c.(370-372)taC>taA		transmembrane protein 255A							235.0	212.0	220.0					X																	119421060		2203	4300	6503	SO:0001587	stop_gained	55026							g.chrX:119421060G>T	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.372C>A	X.37:g.119421060G>T	ENSP00000310110:p.Tyr124*					TMEM255A_ENST00000309720.5_Nonsense_Mutation_p.Y124*|TMEM255A_ENST00000440464.1_Nonsense_Mutation_p.Y124*	p.Y124*	NM_001104544.1	NP_001098014.1					5	598	-								A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Nonsense_Mutation	SNP	ENST00000309720.5	37	c.372C>A	CCDS14597.1	.	.	.	.	.	.	.	.	.	.	g	32	5.132494	0.94473	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	.	.	.	5.17	-5.36	0.02689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8244	12.9031	0.58137	0.4568:0.0:0.5432:0.0	.	.	.	.	X	124	.	ENSP00000310110:Y124X	Y	-	3	2	FAM70A	119305088	0.973000	0.33851	0.859000	0.33776	0.813000	0.45954	0.028000	0.13644	-1.508000	0.01800	-1.339000	0.01253	TAC		0.448	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938		6	173	1	0	2.7689e-08	0.029380	3.25467e-08	6	173				
NRAP	4892	broad.mit.edu	37	10	115384664	115384664	+	Missense_Mutation	SNP	T	T	A	rs576338429		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr10:115384664T>A	ENST00000359988.3	-	22	2514	c.2270A>T	c.(2269-2271)cAg>cTg	p.Q757L	NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L|NRAP_ENST00000369358.4_Missense_Mutation_p.Q765L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATGGACAGACTGCTCATTTCC	0.567																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(2293-2295)cAg>cTg		nebulin-related anchoring protein							188.0	155.0	166.0					10																	115384664		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115384664T>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2270A>T	10.37:g.115384664T>A	ENSP00000353078:p.Gln757Leu					NRAP_ENST00000360478.3_Missense_Mutation_p.Q722L|NRAP_ENST00000359988.3_Missense_Mutation_p.Q757L|NRAP_ENST00000369360.3_Missense_Mutation_p.Q730L	p.Q765L			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	22	2538	-		Colorectal(252;0.0233)|Breast(234;0.188)	757						Missense_Mutation	SNP	ENST00000359988.3	37	c.2294A>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219952	0.79464	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.84	4.7	0.59300	.	0.106321	0.64402	D	0.000003	T	0.56307	0.1976	M	0.65975	2.015	0.41084	D	0.985543	P;B;B;B	0.45594	0.862;0.433;0.127;0.254	P;P;B;B	0.51297	0.665;0.456;0.187;0.207	T	0.59059	-0.7525	10	0.48119	T	0.1	.	11.9021	0.52690	0.0:0.0699:0.0:0.9301	.	437;757;722;757	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	L	765;730;757;722;437	ENSP00000358365:Q765L;ENSP00000358367:Q730L;ENSP00000353078:Q757L;ENSP00000353666:Q722L	ENSP00000353078:Q757L	Q	-	2	0	NRAP	115374654	1.000000	0.71417	0.973000	0.42090	0.849000	0.48306	4.695000	0.61767	2.227000	0.72691	0.533000	0.62120	CAG		0.567	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		39	12	0	0	0	0.086207	0	39	12				
SRGAP1	57522	broad.mit.edu	37	12	64505580	64505580	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:64505580A>G	ENST00000355086.3	+	17	2482	c.1958A>G	c.(1957-1959)tAt>tGt	p.Y653C	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	653	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGGACCCTTATAACCTGGCC	0.378																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1957-1959)tAt>tGt		SLIT-ROBO Rho GTPase activating protein 1							119.0	109.0	113.0					12																	64505580		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64505580A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1958A>G	12.37:g.64505580A>G	ENSP00000347198:p.Tyr653Cys					SRGAP1_ENST00000357825.3_Missense_Mutation_p.Y630C|SRGAP1_ENST00000543397.1_Missense_Mutation_p.Y590C|RP11-196H14.4_ENST00000535806.1_RNA	p.Y653C	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	17	2482	+			653			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1958A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784369	0.70222	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.19250	2.16;2.16;2.16	5.05	5.05	0.67936	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.32357	U	0.006215	T	0.53610	0.1807	M	0.92026	3.265	0.58432	D	0.999998	D;D	0.67145	0.996;0.989	D;P	0.67231	0.95;0.879	T	0.65496	-0.6154	9	.	.	.	.	15.1199	0.72434	1.0:0.0:0.0:0.0	.	653;590	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	C	653;630;590	ENSP00000347198:Y653C;ENSP00000350480:Y630C;ENSP00000437948:Y590C	.	Y	+	2	0	SRGAP1	62791847	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.449000	0.60034	2.042000	0.60477	0.454000	0.30748	TAT		0.378	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			21	55	0	0	0	0.076483	0	21	55				
LTBP1	4052	broad.mit.edu	37	2	33482371	33482371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:33482371C>A	ENST00000404816.2	+	12	2541	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	730					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGAAATCTGTCCTGGTGGAAT	0.393																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2188-2190)Cct>Act		latent transforming growth factor beta binding protein 1							83.0	80.0	81.0					2																	33482371		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33482371C>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2188C>A	2.37:g.33482371C>A	ENSP00000386043:p.Pro730Thr					LTBP1_ENST00000418533.2_Missense_Mutation_p.P404T|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000390003.4_Missense_Mutation_p.P404T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P404T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P730T|LTBP1_ENST00000404525.1_Intron	p.P730T			Q14766	LTBP1_HUMAN			12	2541	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	730					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2188C>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539528	0.85917	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000468091	D;D;D;D;D;D	0.94000	-3.19;-3.19;-3.19;-3.19;-3.19;-3.33	5.81	5.81	0.92471	.	.	.	.	.	D	0.95915	0.8670	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.95942	0.8947	9	0.87932	D	0	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	404;404;404;730	E7EV71;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	T	730;730;404;404;404;47	ENSP00000386043:P730T;ENSP00000346467:P730T;ENSP00000374653:P404T;ENSP00000393057:P404T;ENSP00000384091:P404T;ENSP00000417591:P47T	ENSP00000346467:P730T	P	+	1	0	LTBP1	33335875	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.001000	0.76297	2.736000	0.93811	0.655000	0.94253	CCT		0.393	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		29	39	1	0	5.97227e-30	0.045705	7.9236e-30	29	39				
SRSF2	6427	broad.mit.edu	37	17	74732524	74732524	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:74732524G>C	ENST00000392485.2	-	2	557	c.385C>G	c.(385-387)Cga>Gga	p.R129G	RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000593181.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000591864.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MIR636_ENST00000384825.1_RNA|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|MFSD11_ENST00000588460.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	129	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R129*(1)|p.R109*(1)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CTCCGGGATCGGCTGCGGCGA	0.711			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		2	Substitution - Nonsense(2)	p.R129*(1)|p.R109*(1)	kidney(2)	haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(385-387)Cga>Gga		serine/arginine-rich splicing factor 2							34.0	35.0	35.0					17																	74732524		2202	4300	6502	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732524G>C	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.385C>G	17.37:g.74732524G>C	ENSP00000376276:p.Arg129Gly					MFSD11_ENST00000588460.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R117G|SRSF2_ENST00000359995.5_Missense_Mutation_p.R129G|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR	p.R129G	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	557	-			129			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.385C>G	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417123	0.42918	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T;T	0.73469	0.95;2.33;-0.61;-0.75	4.68	1.33	0.21861	.	0.073617	0.50627	N	0.000107	T	0.60715	0.2290	L	0.52573	1.65	0.80722	D	1	P;P	0.35242	0.492;0.492	B;B	0.24701	0.055;0.055	T	0.51616	-0.8683	10	0.28530	T	0.3	.	10.0558	0.42244	0.0:0.1338:0.589:0.2772	.	117;129	B4DN89;Q01130	.;SRSF2_HUMAN	G	129;156;117;109	ENSP00000376276:R129G;ENSP00000441780:R156G;ENSP00000350877:R117G;ENSP00000353089:R109G	ENSP00000350877:R117G	R	-	1	2	SRSF2	72244119	1.000000	0.71417	0.589000	0.28718	0.920000	0.55202	2.703000	0.47110	0.021000	0.15133	0.467000	0.42956	CGA		0.711	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		12	85	0	0	0	0.093190	0	12	85				
APCDD1L	164284	broad.mit.edu	37	20	57045686	57045686	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:57045686T>G	ENST00000371149.3	-	2	397	c.167A>C	c.(166-168)aAt>aCt	p.N56T	APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	56						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CCAAGGTCCATTAAGGCGTGG	0.617																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(166-168)aAt>aCt		adenomatosis polyposis coli down-regulated 1-like							59.0	46.0	50.0					20																	57045686		2202	4298	6500	SO:0001583	missense	164284					integral to membrane		g.chr20:57045686T>G	AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.167A>C	20.37:g.57045686T>G	ENSP00000360191:p.Asn56Thr					APCDD1L_ENST00000439429.1_Missense_Mutation_p.N67T	p.N56T	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		2	397	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		56						Missense_Mutation	SNP	ENST00000371149.3	37	c.167A>C	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	T	7.147	0.582927	0.13749	.	.	ENSG00000198768	ENST00000371149;ENST00000439429;ENST00000425773	T;T;T	0.30714	2.34;2.34;1.52	4.73	1.06	0.20224	.	0.655299	0.15439	N	0.262297	T	0.12135	0.0295	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.25222	-1.0138	10	0.29301	T	0.29	-0.8087	6.0188	0.19618	0.0:0.1524:0.1431:0.7045	.	67;56	F5H6V6;Q8NCL9	.;APCDL_HUMAN	T	56;67;67	ENSP00000360191:N56T;ENSP00000413261:N67T;ENSP00000396856:N67T	ENSP00000360191:N56T	N	-	2	0	APCDD1L	56479092	0.008000	0.16893	0.000000	0.03702	0.048000	0.14542	1.721000	0.38032	-0.026000	0.13895	-0.274000	0.10170	AAT		0.617	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		7	10	0	0	0	0.038147	0	7	10				
AFF3	3899	broad.mit.edu	37	2	100368683	100368683	+	Splice_Site	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:100368683C>A	ENST00000409236.2	-	7	1114	c.1002G>T	c.(1000-1002)aaG>aaT	p.K334N	AFF3_ENST00000409579.1_Splice_Site_p.K359N|AFF3_ENST00000356421.2_Splice_Site_p.K359N|AFF3_ENST00000317233.4_Splice_Site_p.K334N			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	334					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AAGATCTCACCTTATTTGGAA	0.443																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.e8+1		AF4/FMR2 family, member 3							97.0	93.0	94.0					2																	100368683		2203	4300	6503	SO:0001630	splice_region_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100368683C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1002+1G>T	2.37:g.100368683C>A						AFF3_ENST00000356421.2_Splice_Site_p.K359_splice|AFF3_ENST00000409236.1_Splice_Site_p.K334_splice|AFF3_ENST00000409579.1_Splice_Site_p.K359_splice	p.K334_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			8	1237	-			334					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Splice_Site	SNP	ENST00000409236.2	37	c.1002_splice	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388632	0.82902	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.43	5.43	0.79202	.	0.000000	0.35936	N	0.002894	T	0.80939	0.4720	L	0.52905	1.665	0.49483	D	0.999792	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.998;0.994;0.998;0.994	T	0.79543	-0.1760	9	.	.	.	.	16.3803	0.83458	0.0:1.0:0.0:0.0	.	488;488;334;359	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	N	334;359;359;334;334;488;359	ENSP00000317421:K334N;ENSP00000348793:K359N;ENSP00000386834:K359N;ENSP00000387207:K334N	.	K	-	3	2	AFF3	99735115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.013000	0.64023	2.558000	0.86282	0.591000	0.81541	AAG		0.443	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285	Missense_Mutation	20	44	1	0	8.10497e-08	0.055883	9.44406e-08	20	44				
BPIFA3	128861	broad.mit.edu	37	20	31813043	31813043	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:31813043A>C	ENST00000375454.3	+	4	736	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	BPIFA3_ENST00000375452.3_Missense_Mutation_p.I140L|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	176						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CCATGTGGCCATCCTCACTGA	0.582																																						ENST00000375454.3																			0											c.(526-528)Atc>Ctc		BPI fold containing family A, member 3							137.0	135.0	135.0					20																	31813043		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31813043A>C		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.526A>C	20.37:g.31813043A>C	ENSP00000364603:p.Ile176Leu					BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.I140L	p.I176L	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN			4	736	+			176					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.526A>C	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.062174	0.00386	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.04083	3.71;3.71	3.49	-6.98	0.01611	.	1.139150	0.06757	N	0.781120	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.42682	-0.9437	10	0.02654	T	1	-0.5702	2.0186	0.03504	0.4824:0.091:0.1614:0.2653	.	140;176	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	L	176;140	ENSP00000364603:I176L;ENSP00000364601:I140L	ENSP00000364601:I140L	I	+	1	0	BPIFA3	31276704	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.291000	0.02775	-3.854000	0.00099	-3.113000	0.00062	ATC		0.582	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		4	141	0	0	0	0.009096	0	4	141				
TECRL	253017	broad.mit.edu	37	4	65274963	65274963	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr4:65274963A>G	ENST00000381210.3	-	1	217	c.107T>C	c.(106-108)tTg>tCg	p.L36S	TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	36					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTTTTGACAAAAAGTGAAA	0.413																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(106-108)tTg>tCg		trans-2,3-enoyl-CoA reductase-like							108.0	110.0	109.0					4																	65274963		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65274963A>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.107T>C	4.37:g.65274963A>G	ENSP00000370607:p.Leu36Ser					TECRL_ENST00000507440.1_Missense_Mutation_p.L36S	p.L36S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			1	217	-			36						Missense_Mutation	SNP	ENST00000381210.3	37	c.107T>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	10.35	1.327001	0.24080	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.43294	0.95;0.95;0.95	4.99	4.99	0.66335	.	0.734290	0.12659	N	0.449804	T	0.47229	0.1434	L	0.53249	1.67	0.27275	N	0.958251	P;P	0.44429	0.835;0.622	P;B	0.46208	0.507;0.193	T	0.45411	-0.9263	10	0.87932	D	0	-7.8706	12.3572	0.55182	1.0:0.0:0.0:0.0	.	36;36	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	S	36	ENSP00000426043:L36S;ENSP00000370607:L36S;ENSP00000422497:L36S	ENSP00000370607:L36S	L	-	2	0	TECRL	64957558	0.931000	0.31567	0.696000	0.30242	0.102000	0.19082	5.792000	0.69052	2.001000	0.58596	0.533000	0.62120	TTG		0.413	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		12	40	0	0	0	0.105934	0	12	40				
ZNF85	7639	broad.mit.edu	37	19	21132175	21132175	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:21132175C>A	ENST00000328178.8	+	4	968	c.855C>A	c.(853-855)ccC>ccA	p.P285P	ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000601023.1_Silent_p.P226P	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	285					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAGAAACCCTACAAATGTA	0.353																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(676-678)ccC>ccA		zinc finger protein 85							28.0	31.0	30.0					19																	21132175		2201	4296	6497	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132175C>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.855C>A	19.37:g.21132175C>A						ZNF85_ENST00000345030.6_Silent_p.P252P|ZNF85_ENST00000328178.8_Silent_p.P285P	p.P226P			Q03923	ZNF85_HUMAN			2	1324	+			285					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.678C>A	CCDS32977.1																																																																																				0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		13	15	1	0	0.00185496	0.105934	0.00200455	13	15				
PKP4	8502	broad.mit.edu	37	2	159519912	159519912	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:159519912A>T	ENST00000389759.3	+	15	2644	c.2532A>T	c.(2530-2532)gaA>gaT	p.E844D	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.E844D|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	844					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCACCTTGGAAGGCTCTGCAG	0.493										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(2530-2532)gaA>gaT		plakophilin 4							61.0	62.0	62.0					2																	159519912		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519912A>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2532A>T	2.37:g.159519912A>T	ENSP00000374409:p.Glu844Asp	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.E844D|PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA	p.E844D	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			15	2657	+			844					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2532A>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.372639	0.82573	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.81659	-1.52;-1.52	5.76	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.996;0.99;0.996	D	0.88220	0.2896	10	0.87932	D	0	-14.3621	6.276	0.20981	0.7097:0.0:0.2903:0.0	.	799;844;844	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	D	844	ENSP00000374407:E844D;ENSP00000374409:E844D	ENSP00000374407:E844D	E	+	3	2	PKP4	159228158	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.172000	0.50832	1.014000	0.39417	0.533000	0.62120	GAA		0.493	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			34	54	0	0	0	0.059317	0	34	54				
RALGAPA1	253959	broad.mit.edu	37	14	36207835	36207835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:36207835C>T	ENST00000389698.3	-	12	1861	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	491					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGAACATGATCAGCAGTATTG	0.388																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1471-1473)Gat>Aat		Ral GTPase activating protein, alpha subunit 1 (catalytic)							127.0	120.0	122.0					14																	36207835		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36207835C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1471G>A	14.37:g.36207835C>T	ENSP00000374348:p.Asp491Asn					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D491N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D491N	p.D491N			Q6GYQ0	RGPA1_HUMAN			12	1861	-			491					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1471G>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474818	0.43942	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.51	4.61	0.57282	.	0.478389	0.22500	N	0.059254	T	0.50548	0.1622	N	0.03608	-0.345	0.23132	N	0.99824	B;B;B;B;B	0.18863	0.001;0.0;0.031;0.002;0.001	B;B;B;B;B	0.18871	0.012;0.0;0.018;0.023;0.004	T	0.39522	-0.9610	10	0.36615	T	0.2	-8.4881	10.9116	0.47112	0.0:0.8643:0.0:0.1357	.	491;491;491;491;491	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	N	491	ENSP00000374348:D491N;ENSP00000302647:D491N;ENSP00000258840:D491N;ENSP00000371803:D491N;ENSP00000451877:D491N	ENSP00000258840:D491N	D	-	1	0	RALGAPA1	35277586	1.000000	0.71417	0.982000	0.44146	0.905000	0.53344	1.179000	0.31993	2.746000	0.94184	0.591000	0.81541	GAT		0.388	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		5	133	0	0	0	0.014758	0	5	133				
FRG1B	284802	broad.mit.edu	37	20	29628268	29628268	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr20:29628268A>T	ENST00000278882.3	+	6	650	c.270A>T	c.(268-270)agA>agT	p.R90S	FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S|FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	90										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCTTTATTAGATGCAATGAAG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(268-270)agA>agT																																						SO:0001583	missense	284802							g.chr20:29628268A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.270A>T	20.37:g.29628268A>T	ENSP00000278882:p.Arg90Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.R95S|FRG1B_ENST00000358464.4_Missense_Mutation_p.R90S	p.R90S							6	650	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.270A>T		.	.	.	.	.	.	.	.	.	.	a	0.839	-0.742602	0.03088	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.38240	1.15	2.08	2.08	0.27032	Actin cross-linking (1);	0.219751	0.48767	D	0.000175	T	0.13200	0.0320	.	.	.	0.23454	N	0.997647	B;B	0.12630	0.001;0.006	B;B	0.12837	0.007;0.008	T	0.32613	-0.9900	9	0.02654	T	1	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	95;90	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	90;95;90	ENSP00000408863:R95S	ENSP00000278882:R90S	R	+	3	2	FRG1B	28241929	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	0.505000	0.22642	1.208000	0.43306	0.347000	0.21830	AGA		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	51	0	0	0	0.021553	0	3	51				
PLXNA2	5362	broad.mit.edu	37	1	208216455	208216455	+	Missense_Mutation	SNP	C	C	T	rs374038859		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:208216455C>T	ENST00000367033.3	-	21	4725	c.3968G>A	c.(3967-3969)cGa>cAa	p.R1323Q		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1323					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAACAGGACTCGCATAGCGTA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18744	0.0		0.0	False		,,,				2504	0.001					ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3967-3969)cGa>cAa		plexin A2		C	GLN/ARG	0,4406		0,0,2203	84.0	79.0	80.0		3968	5.4	1.0	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLXNA2	NM_025179.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1323/1895	208216455	1,13005	2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208216455C>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3968G>A	1.37:g.208216455C>T	ENSP00000356000:p.Arg1323Gln						p.R1323Q	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	21	4725	-			1323					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3968G>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	C	37	5.998433	0.97184	0.0	1.16E-4	ENSG00000076356	ENST00000367033	T	0.14640	2.49	5.42	5.42	0.78866	Plexin, cytoplasmic RasGAP domain (1);	0.000000	0.85682	D	0.000000	T	0.44180	0.1281	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46721	-0.9171	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	1323	O75051	PLXA2_HUMAN	Q	1323	ENSP00000356000:R1323Q	ENSP00000356000:R1323Q	R	-	2	0	PLXNA2	206283078	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	7.454000	0.80714	2.543000	0.85770	0.650000	0.86243	CGA		0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		29	32	0	0	0	0.134883	0	29	32				
EPHB6	2051	broad.mit.edu	37	7	142568363	142568363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr7:142568363G>T	ENST00000392957.2	+	19	3669	c.2882G>T	c.(2881-2883)gGa>gTa	p.G961V	EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	961	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGCCATTGGACTGGAGTGC	0.597																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(2881-2883)gGa>gTa		EPH receptor B6							88.0	91.0	90.0					7																	142568363		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142568363G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2882G>T	7.37:g.142568363G>T	ENSP00000376684:p.Gly961Val					EPHB6_ENST00000411471.2_Missense_Mutation_p.G684V|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000442129.1_Missense_Mutation_p.G961V	p.G961V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			19	3669	+	Melanoma(164;0.059)		961			SAM.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2882G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933407	0.73442	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.88354	-2.37;-2.37;-2.37	5.23	5.23	0.72850	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.45361	D	0.000370	D	0.93436	0.7906	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.68039	0.955;0.869	D	0.93578	0.6910	10	0.87932	D	0	.	7.6589	0.28392	0.1812:0.0:0.8188:0.0	.	961;684	O15197;O15197-2	EPHB6_HUMAN;.	V	961;961;684	ENSP00000376684:G961V;ENSP00000410789:G961V;ENSP00000409061:G684V	ENSP00000376684:G961V	G	+	2	0	EPHB6	142278485	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.129000	0.64739	2.419000	0.82065	0.655000	0.94253	GGA		0.597	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			36	127	1	0	9.17885e-22	0.059317	1.16035e-21	36	127				
OR8J3	81168	broad.mit.edu	37	11	55904545	55904545	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr11:55904545G>T	ENST00000301529.1	-	1	649	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(649-651)tCt>tAt		olfactory receptor, family 8, subfamily J, member 3							90.0	92.0	91.0					11																	55904545		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904545G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.650C>A	11.37:g.55904545G>T	ENSP00000301529:p.Ser217Tyr						p.S217Y	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	649	-	Esophageal squamous(21;0.00693)		217					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.650C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554970	0.45487	.	.	ENSG00000167822	ENST00000301529	T	0.46063	0.88	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.73628	0.3611	H	0.96460	3.825	0.21220	N	0.99975	D	0.65815	0.995	D	0.74023	0.982	T	0.71027	-0.4711	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	217	Q8NGG0	OR8J3_HUMAN	Y	217	ENSP00000301529:S217Y	ENSP00000301529:S217Y	S	-	2	0	OR8J3	55661121	1.000000	0.71417	0.818000	0.32626	0.757000	0.42996	5.728000	0.68531	1.553000	0.49476	0.297000	0.19635	TCT		0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		26	42	1	0	2.41591e-17	0.099896	2.97002e-17	26	42				
CXorf22	170063	broad.mit.edu	37	X	35966561	35966561	+	Silent	SNP	A	A	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chrX:35966561A>G	ENST00000297866.5	+	4	714	c.648A>G	c.(646-648)gaA>gaG	p.E216E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	216										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTAGATGAAGAGGCAATGT	0.373																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(646-648)gaA>gaG		chromosome X open reading frame 22							132.0	118.0	123.0					X																	35966561		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35966561A>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.648A>G	X.37:g.35966561A>G							p.E216E	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			4	714	+			216					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.648A>G	CCDS14237.2																																																																																				0.373	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		37	9	0	0	0	0.098360	0	37	9				
TRHR	7201	broad.mit.edu	37	8	110099852	110099852	+	Silent	SNP	C	C	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr8:110099852C>A	ENST00000518632.1	+	2	462	c.111C>A	c.(109-111)ggC>ggA	p.G37G	TRHR_ENST00000311762.2_Silent_p.G37G			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTATTTGTGGCCTGGGCATTG	0.507																																						ENST00000518632.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(109-111)ggC>ggA		thyrotropin-releasing hormone receptor							132.0	116.0	122.0					8																	110099852		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110099852C>A		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.111C>A	8.37:g.110099852C>A						TRHR_ENST00000311762.2_Silent_p.G37G	p.G37G			P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		2	462	+			37					Q2M339	Silent	SNP	ENST00000518632.1	37	c.111C>A	CCDS6311.1																																																																																				0.507	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1			38	53	1	0	3.21399e-22	0.074837	4.14111e-22	38	53				
DHRS4L2	317749	broad.mit.edu	37	14	24464313	24464313	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:24464313A>C	ENST00000335125.6	+	3	505	c.379A>C	c.(379-381)Atg>Ctg	p.M127L	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	125						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TGGAAGCCTAATGGATGTCAC	0.522																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(379-381)Atg>Ctg		dehydrogenase/reductase (SDR family) member 4 like 2							412.0	373.0	386.0					14																	24464313		2203	4300	6503	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24464313A>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.379A>C	14.37:g.24464313A>C	ENSP00000334801:p.Met127Leu					DHRS4L2_ENST00000545240.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.M26L|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.M127L|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.M125L	p.M127L	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	505	+			74					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.379A>C	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	0.363	-0.938275	0.02340	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16	4.64	-3.05	0.05396	NAD(P)-binding domain (1);	0.138925	0.48767	D	0.000168	T	0.52175	0.1718	N	0.01405	-0.89	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58769	-0.7578	10	0.02654	T	1	.	2.1348	0.03759	0.2434:0.1368:0.0918:0.528	.	125;125	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	L	26;127;127;127;125	ENSP00000380261:M127L;ENSP00000334801:M127L;ENSP00000437883:M127L;ENSP00000372203:M125L	ENSP00000334801:M127L	M	+	1	0	DHRS4L2	23534153	0.012000	0.17670	0.156000	0.22583	0.769000	0.43574	0.205000	0.17356	0.124000	0.18369	0.327000	0.21459	ATG		0.522	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			9	686	0	0	0	0.069234	0	9	686				
EP400	57634	broad.mit.edu	37	12	132491260	132491260	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr12:132491260C>T	ENST00000333577.4	+	16	3359	c.3250C>T	c.(3250-3252)Cca>Tca	p.P1084S	EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S			Q96L91	EP400_HUMAN	E1A binding protein p400	1084	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTAATGCTCCATCTTTGTT	0.398																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(3250-3252)Cca>Tca		E1A binding protein p400							77.0	73.0	74.0					12																	132491260		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132491260C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3250C>T	12.37:g.132491260C>T	ENSP00000333602:p.Pro1084Ser					EP400_ENST00000330386.6_Missense_Mutation_p.P1048S|EP400_ENST00000332482.4_Missense_Mutation_p.P1011S|EP400_ENST00000389562.2_Missense_Mutation_p.P1047S|EP400_ENST00000389561.2_Missense_Mutation_p.P1048S	p.P1084S			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	16	3359	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1084			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3250C>T		.	.	.	.	.	.	.	.	.	.	C	10.09	1.255110	0.22965	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.55	5.55	0.83447	.	0.053452	0.85682	D	0.000000	D	0.96688	0.8919	M	0.78637	2.42	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.955;0.975	D	0.96936	0.9684	10	0.87932	D	0	.	19.4888	0.95042	0.0:1.0:0.0:0.0	.	1048;1048;1047	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	S	1084;1048;1047;1011;1048;1048;1048	ENSP00000333602:P1084S;ENSP00000374212:P1048S;ENSP00000374213:P1047S;ENSP00000331737:P1011S;ENSP00000330620:P1048S	ENSP00000330620:P1048S	P	+	1	0	EP400	131057213	1.000000	0.71417	0.039000	0.18376	0.059000	0.15707	7.788000	0.85771	2.601000	0.87937	0.460000	0.39030	CCA		0.398	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		20	21	0	0	0	0.055883	0	20	21				
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458669	90458669	+	Silent	SNP	T	T	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:90458669T>A	ENST00000603238.1	+	2	345	c.345T>A	c.(343-345)ccT>ccA	p.P115P																								ACAGTACCCCTCCCACAGCGT	0.517																																						ENST00000603238.1																			0											c.(343-345)ccT>ccA																																						SO:0001819	synonymous_variant	339562							g.chr2:90458669T>A																												ENST00000603238.1:c.345T>A	2.37:g.90458669T>A							p.115_115insP							2	345	+									Missense_Mutation	SNP	ENST00000603238.1	37	c.345T>A																																																																																					0.517	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			33	610	0	0	0	0.059317	0	33	610				
ADCK4	79934	broad.mit.edu	37	19	41206235	41206235	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr19:41206235T>G	ENST00000324464.3	-	11	1316	c.1015A>C	c.(1015-1017)Agc>Cgc	p.S339R	ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R|ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	339	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGGTCCTGGCTTAGGCCCTGG	0.672																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(1015-1017)Agc>Cgc		aarF domain containing kinase 4							43.0	45.0	44.0					19																	41206235		2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41206235T>G	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.1015A>C	19.37:g.41206235T>G	ENSP00000315118:p.Ser339Arg					ADCK4_ENST00000450541.1_Missense_Mutation_p.S298R|ADCK4_ENST00000243583.6_Missense_Mutation_p.S298R	p.S339R	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		11	1316	-			339			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.1015A>C	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.022513	0.54683	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.53206	0.63;0.63;0.63	5.75	4.73	0.59995	Protein kinase-like domain (1);	0.107304	0.64402	D	0.000003	T	0.45716	0.1356	L	0.56769	1.78	0.36763	D	0.883372	B;B	0.27679	0.175;0.185	B;B	0.34652	0.091;0.187	T	0.56517	-0.7966	10	0.62326	D	0.03	-21.3481	8.0174	0.30389	0.0:0.1462:0.0:0.8538	.	339;298	Q96D53;Q96D53-2	ADCK4_HUMAN;.	R	339;298;298	ENSP00000315118:S339R;ENSP00000412839:S298R;ENSP00000243583:S298R	ENSP00000243583:S298R	S	-	1	0	ADCK4	45898075	0.993000	0.37304	1.000000	0.80357	0.866000	0.49608	0.851000	0.27751	2.196000	0.70406	0.460000	0.39030	AGC		0.672	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		17	47	0	0	0	0.146539	0	17	47				
FAM102B	284611	broad.mit.edu	37	1	109170788	109170788	+	Splice_Site	SNP	G	G	C			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:109170788G>C	ENST00000370035.3	+	7	896		c.e7-1		FAM102B_ENST00000405454.1_Splice_Site	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B											autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		ACATATTACAGATCTTTCAGC	0.378																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.e7-1		family with sequence similarity 102, member B							84.0	78.0	80.0					1																	109170788		2203	4300	6503	SO:0001630	splice_region_variant	284611							g.chr1:109170788G>C	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.557-1G>C	1.37:g.109170788G>C						FAM102B_ENST00000405454.1_Splice_Site		NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	7	896	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)						A1L1A1|B0QZ46|B0QZ47|Q68DH7	Splice_Site	SNP	ENST00000370035.3	37		CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591747	0.66219	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4997	0.95089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM102B	108972311	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.678000	0.91211	2.611000	0.88343	0.655000	0.94253	.		0.378	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883	Intron	25	10	0	0	0	0.091800	0	25	10				
ADCK3	56997	broad.mit.edu	37	1	227152980	227152993	+	Frame_Shift_Del	DEL	TTCTCTGCCATGGG	TTCTCTGCCATGGG	-	rs147812454		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:227152980_227152993delTTCTCTGCCATGGG	ENST00000366779.1	+	8	3228_3241	c.457_470delTTCTCTGCCATGGG	c.(457-471)ttctctgccatgggcfs	p.FSAMG153fs	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	153					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA	0.636																																						ENST00000366779.1																			1	Substitution - Missense(1)	p.G157D(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(457-471)cfs		aarF domain containing kinase 3																																				SO:0001589	frameshift_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152980_227152993delTTCTCTGCCATGGG	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.457_470delTTCTCTGCCATGGG	1.37:g.227152980_227152993delTTCTCTGCCATGGG	ENSP00000355741:p.Phe153fs					ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.FSAMG78fs|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000366775.1_Start_Codon_Del|ADCK3_ENST00000458507.2_Intron	p.FSAMG153fs			Q8NI60	ADCK3_HUMAN			8	3228_3241	+			153					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Frame_Shift_Del	DEL	ENST00000366779.1	37	c.457_470delTTCTCTGCCATGGG	CCDS1557.1																																																																																				0.636	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		9	40						9	40	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229625736	229625736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr1:229625736delG	ENST00000261396.3	-	9	1251	c.1160delC	c.(1159-1161)actfs	p.T387fs	NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	387					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACTTCTACAGTAACTGCATC	0.348																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1159-1161)atfs		nucleoporin 133kDa							68.0	69.0	69.0					1																	229625736		2203	4300	6503	SO:0001589	frameshift_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229625736delG		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1160delC	1.37:g.229625736delG	ENSP00000261396:p.Thr387fs					NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	p.T387fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			9	1251	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	387					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Frame_Shift_Del	DEL	ENST00000261396.3	37	c.1160delC	CCDS1579.1																																																																																				0.348	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		15	24						15	24	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452544	43452545	+	Frame_Shift_Ins	INS	-	-	T	rs537935036		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr2:43452544_43452545insT	ENST00000282388.3	-	2	691_692	c.398_399insA	c.(397-399)cacfs	p.H133fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	133					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGTGCAGGAGGTGCTGGCTGCG	0.658																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(397-399)cctfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452544_43452545insT	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.399dupA	2.37:g.43452545_43452545dupT	ENSP00000282388:p.His133fs					THADA_ENST00000330266.7_Intron	p.P133fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	691_692	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	133					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.398_399insA	CCDS1811.1																																																																																				0.658	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		20	27						20	27	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	lincRNA	DEL	GTG	GTG	-	rs145880653|rs147886708		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284									long intergenic non-protein coding RNA 969																		AGGTGGGCTTGTGGAGGAATGGG	0.552																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400639_195400641delGTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400639_195400641delGTG														0	1284	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			2	4						2	4	---	---	---	---
SCAMP1	9522	broad.mit.edu	37	5	77714718	77714718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:77714718delT	ENST00000538629.1	+	5	620	c.463delT	c.(463-465)ttgfs	p.L155fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	155					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TATGTACTACTTGTGGATGTG	0.338																																						ENST00000538629.1																			0											c.(463-465)tgfs		secretory carrier membrane protein 1							49.0	45.0	46.0					5																	77714718		1817	4063	5880	SO:0001589	frameshift_variant	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77714718delT	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.463delT	5.37:g.77714718delT	ENSP00000475496:p.Leu155fs					SCAMP1_ENST00000339292.4_3'UTR	p.L155fs	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	5	620	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)	155					O43587|Q6FG23|Q96BX1|Q96QK5	Frame_Shift_Del	DEL	ENST00000538629.1	37	c.463delT																																																																																					0.338	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		9	8						9	8	---	---	---	---
APC	324	broad.mit.edu	37	5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A	rs587783031		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4660-4662)aaafs		adenomatous polyposis coli																																				SO:0001589	frameshift_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175951_112175952insA	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs	TSP Lung(16;0.13)				APC_ENST00000508376.2_Frame_Shift_Ins_p.K1554fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.K1554fs	p.K1554fs			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5040_5041	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1554			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	ENST00000457016.1	37	c.4660_4661insA	CCDS4107.1																																																																																				0.342	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		33	14						33	14	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169472903	169472904	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr5:169472903_169472904insA	ENST00000256935.8	+	39	4040_4041	c.3960_3961insA	c.(3961-3963)aacfs	p.N1321fs	DOCK2_ENST00000540750.1_Frame_Shift_Ins_p.N382fs|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.N813fs|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1321	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.N1321fs*10(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTCAGCCAGAACCTGGTAAG	0.584																																						ENST00000256935.8																			1	Insertion - Frameshift(1)	p.N1321fs*10(1)	large_intestine(1)	NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3958-3963)caacctfs		dedicator of cytokinesis 2																																				SO:0001589	frameshift_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169472903_169472904insA	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3962dupA	5.37:g.169472905_169472905dupA	ENSP00000256935:p.Asn1321fs					DOCK2_ENST00000540750.1_Frame_Shift_Ins_p.P382fs|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Ins_p.P813fs	p.P1321fs	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		39	4040_4041	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1321			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Frame_Shift_Ins	INS	ENST00000256935.8	37	c.3960_3961insA	CCDS4371.1																																																																																				0.584	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		20	59						20	59	---	---	---	---
GOLGA6L4	643707	broad.mit.edu	37	15	82934841	82934841	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr15:82934841delC	ENST00000559949.1	-	6	798	c.739delG	c.(739-741)gagfs	p.E248fs	RP13-996F3.5_ENST00000560844.1_5'UTR																NS(1)	1						AGCCTCTCCTCCTGTTCACGT	0.557																																						ENST00000559949.1																			0				NS(1)	1						c.(739-741)agfs																																						SO:0001589	frameshift_variant	643707							g.chr15:82934841delC																												ENST00000559949.1:c.739delG	15.37:g.82934841delC	ENSP00000453573:p.Glu248fs					RP13-996F3.5_ENST00000560844.1_5'UTR	p.E248fs							6	798	-									Frame_Shift_Del	DEL	ENST00000559949.1	37	c.739delG																																																																																					0.557	RP13-996F3.5-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419268.1			2	4						2	4	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23391989	23391989	+	Frame_Shift_Del	DEL	G	G	-	rs140945152		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:23391989delG	ENST00000343070.2	+	13	1966	c.1790delG	c.(1789-1791)cgcfs	p.R597fs	SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	597			R -> H. {ECO:0000269|PubMed:9674649}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGGCCCCCCGCAGCCCCAAC	0.711																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1789-1791)ccfs		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						22.0	26.0	25.0					16																	23391989		2194	4296	6490	SO:0001589	frameshift_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23391989delG	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1790delG	16.37:g.23391989delG	ENSP00000345751:p.Arg597fs					SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs	p.R597fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	1966	+			597		R -> H.			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Frame_Shift_Del	DEL	ENST00000343070.2	37	c.1790delG	CCDS10609.1																																																																																				0.711	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			23	40						23	40	---	---	---	---
LAT	27040	broad.mit.edu	37	16	29000849	29000849	+	Splice_Site	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:29000849delG	ENST00000360872.5	+	8	660	c.582delG	c.(580-582)atg>at	p.M194fs	LAT_ENST00000564277.1_Splice_Site_p.M164fs|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000566177.1_Splice_Site_p.M193fs|LAT_ENST00000395456.2_Splice_Site_p.M165fs|LAT_ENST00000395461.3_Splice_Site_p.M201fs|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000354453.4_Splice_Site_p.M184fs|LAT_ENST00000454369.2_Splice_Site_p.M164fs			O43561	LAT_HUMAN	linker for activation of T cells	194					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TTTCCACAGTGGAGTCCATTG	0.622																																						ENST00000395456.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.e9-1		linker for activation of T cells							100.0	90.0	93.0					16																	29000849		2197	4300	6497	SO:0001630	splice_region_variant	27040				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:29000849delG	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.581-1G>-	16.37:g.29000849delG						RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000564277.1_Splice_Site_p.M164_splice|LAT_ENST00000454369.2_Splice_Site_p.M164_splice|LAT_ENST00000395461.3_Splice_Site_p.M201_splice|LAT_ENST00000360872.5_Splice_Site_p.M194_splice|LAT_ENST00000354453.4_Splice_Site_p.M184_splice|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Splice_Site_p.M193_splice	p.M165_splice	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN			9	817	+		Hepatocellular(780;0.244)	194					B7WPI0|C7C5T6|G5E9K3|O43919	Splice_Site	DEL	ENST00000360872.5	37	c.493_splice	CCDS10647.1																																																																																				0.622	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2		Frame_Shift_Del	39	54						39	54	---	---	---	---
HP	3240	broad.mit.edu	37	16	72094177	72094178	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr16:72094177_72094178delTC	ENST00000355906.5	+	7	667_668	c.609_610delTC	c.(607-612)aatctcfs	p.L204fs	HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000357763.4_Frame_Shift_Del_p.L240fs|HPR_ENST00000561690.1_5'Flank|HPR_ENST00000540303.2_5'Flank|HP_ENST00000570083.1_Frame_Shift_Del_p.L145fs|HP_ENST00000565574.1_Frame_Shift_Del_p.L145fs|HP_ENST00000398131.2_Frame_Shift_Del_p.L145fs	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	204	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		CGGCTAAAAATCTCTTCCTGAA	0.465																																						ENST00000355906.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7						c.(607-612)aatcfs		haptoglobin																																				SO:0001589	frameshift_variant	3240				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72094177_72094178delTC		CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.609_610delTC	16.37:g.72094179_72094180delTC	ENSP00000348170:p.Leu204fs					HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000570083.1_Frame_Shift_Del_p.NL144fs|HP_ENST00000398131.2_Frame_Shift_Del_p.NL144fs|HP_ENST00000562526.1_Intron	p.NL203fs	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)	7	667_668	+		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)	203			Peptidase S1.		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Frame_Shift_Del	DEL	ENST00000355906.5	37	c.609_610delTC	CCDS45524.1																																																																																				0.465	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421680.1	NM_005143		43	16						43	16	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248899	44248899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:44248899delC	ENST00000262419.6	-	2	1081	c.611delG	c.(610-612)ggtfs	p.G204fs	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	204					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ATTGGTCATACCCCCCTTCAA	0.458																																						ENST00000262419.6																			0											c.(610-612)gtfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44248899delC	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.611delG	17.37:g.44248899delC	ENSP00000262419:p.Gly204fs					KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs	p.G204fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	1081	-			204					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.611delG	CCDS11503.1																																																																																				0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		53	266						53	266	---	---	---	---
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090681	+	lincRNA	DEL	T	T	-	rs201638373		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr17:58090681delT	ENST00000407042.3	-	0	609									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		CTCTGAATGATTTTTTTTTTT	0.458																																						ENST00000407042.3																			0																																																			653645							g.chr17:58090681delT			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58090681delT														0	609	-									RNA	DEL	ENST00000407042.3	37																																																																																						0.458	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	lincRNA		NR_002924		3	5						3	5	---	---	---	---
ADCYAP1	116	broad.mit.edu	37	18	909477	909478	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:909477_909478delCG	ENST00000579794.1	+	4	650_651	c.372_373delCG	c.(370-375)gacgcgfs	p.A125fs	ADCYAP1_ENST00000450565.3_Frame_Shift_Del_p.A125fs|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.3_ENST00000582554.1_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	125					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGGGGACGACGCGGAGCCGCT	0.668																																						ENST00000579794.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(370-375)gacgfs		adenylate cyclase activating polypeptide 1 (pituitary)																																				SO:0001589	frameshift_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:909477_909478delCG	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.372_373delCG	18.37:g.909479_909480delCG	ENSP00000462647:p.Ala125fs					ADCYAP1_ENST00000450565.3_Frame_Shift_Del_p.DA124fs	p.DA124fs	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN			4	650_651	+			124					B2R7N4|Q52LQ0	Frame_Shift_Del	DEL	ENST00000579794.1	37	c.372_373delCG	CCDS11825.1																																																																																				0.668	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		67	93						67	93	---	---	---	---
ABHD3	171586	broad.mit.edu	37	18	19239184	19239191	+	Frame_Shift_Del	DEL	GTTCAGTG	GTTCAGTG	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:19239184_19239191delGTTCAGTG	ENST00000289119.2	-	6	921_928	c.782_789delCACTGAAC	c.(781-789)ccactgaacfs	p.PLN261fs	ABHD3_ENST00000580981.1_Frame_Shift_Del_p.PLN208fs|ABHD3_ENST00000578270.1_Frame_Shift_Del_p.PLN66fs|RP11-13N13.5_ENST00000584148.1_RNA	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	261						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						AAAGTAGCCAGTTCAGTGGTTTTTCCAA	0.447																																						ENST00000578270.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(196-204)cfs		abhydrolase domain containing 3																																				SO:0001589	frameshift_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19239184_19239191delGTTCAGTG	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.782_789delCACTGAAC	18.37:g.19239184_19239191delGTTCAGTG	ENSP00000289119:p.Pro261fs					ABHD3_ENST00000289119.2_Frame_Shift_Del_p.PLN261fs|ABHD3_ENST00000580981.1_Frame_Shift_Del_p.PLN208fs	p.PLN66fs			Q8WU67	ABHD3_HUMAN			5	1137_1144	-			261					B0YIV0|B7Z5C2|O43411	Frame_Shift_Del	DEL	ENST00000289119.2	37	c.197_204delCACTGAAC	CCDS32802.1																																																																																				0.447	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			24	92						24	92	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42643322	42643322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr18:42643322delA	ENST00000282030.5	+	6	4746	c.4450delA	c.(4450-4452)aaafs	p.K1484fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1484						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGCCCAGCAAAAGAGGCCA	0.637									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4450-4452)aafs		SET binding protein 1							17.0	15.0	16.0					18																	42643322		2188	4286	6474	SO:0001589	frameshift_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643322delA	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4450delA	18.37:g.42643322delA	ENSP00000282030:p.Lys1484fs						p.K1484fs	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	6	4746	+			1484					A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	ENST00000282030.5	37	c.4450delA	CCDS11923.2																																																																																				0.637	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		2	4						2	4	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22836811	22836811	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:22836811delC	ENST00000456783.2	+	3	368	c.124delC	c.(124-126)cccfs	p.P43fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	43	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTAGCTGAACCCCCAGGTAG	0.413																																						ENST00000456783.2																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(124-126)ccfs		zinc finger protein 492							117.0	126.0	123.0					19																	22836811		2203	4300	6503	SO:0001589	frameshift_variant	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836811delC	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.124delC	19.37:g.22836811delC	ENSP00000413660:p.Pro43fs						p.P43fs	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	368	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	43			KRAB.		Q08EI7|Q08EI8	Frame_Shift_Del	DEL	ENST00000456783.2	37	c.124delC	CCDS46032.1																																																																																				0.413	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		67	62						67	62	---	---	---	---
ZNF404	342908	broad.mit.edu	37	19	44377859	44377881	+	Frame_Shift_Del	DEL	TACAAATGCTTTTCCACATTCAT	TACAAATGCTTTTCCACATTCAT	-	rs533626783		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:44377859_44377881delTACAAATGCTTTTCCACATTCAT	ENST00000587539.1	-	3	484_506	c.485_507delATGAATGTGGAAAAGCATTTGTA	c.(484-507)aatgaatgtggaaaagcatttgtafs	p.NECGKAFV162fs	ZNF404_ENST00000324394.6_Frame_Shift_Del_p.NECGKAFV160fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				GCTGGAAAACTACAAATGCTTTTCCACATTCATTACATTCATA	0.35																																						ENST00000587539.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17						c.(484-507)afs		zinc finger protein 404																																				SO:0001589	frameshift_variant	342908				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44377859_44377881delTACAAATGCTTTTCCACATTCAT	XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.485_507delATGAATGTGGAAAAGCATTTGTA	19.37:g.44377859_44377881delTACAAATGCTTTTCCACATTCAT	ENSP00000466051:p.Asn162fs					ZNF404_ENST00000324394.6_Frame_Shift_Del_p.NECGKAFV160fs	p.NECGKAFV162fs	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN			3	484_506	-		Prostate(69;0.0352)	162					A4FU30|K7ELF2	Frame_Shift_Del	DEL	ENST00000587539.1	37	c.485_507delATGAATGTGGAAAAGCATTTGTA	CCDS59394.1																																																																																				0.350	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460019.1	NM_001033719		22	54						22	54	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54746172	54746173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	dc7fbfbb-e6ec-4ded-b1de-80e5c65f8cb1	g.chr19:54746172_54746173insT	ENST00000396365.2	-	3	123_124	c.84_85insA	c.(82-87)aaacccfs	p.P29fs	LILRA6_ENST00000245621.5_Frame_Shift_Ins_p.P29fs|LILRA6_ENST00000419410.2_Frame_Shift_Ins_p.P29fs|LILRA6_ENST00000440558.2_Frame_Shift_Ins_p.P29fs|LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.P29fs|LILRA6_ENST00000270464.5_Frame_Shift_Ins_p.P29fs|LILRA6_ENST00000391735.3_Frame_Shift_Ins_p.P29fs	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	29					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGGTGGGTTTGGGGAAGG	0.619																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(82-87)aaccacfs		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6																																				SO:0001589	frameshift_variant	79168							g.chr19:54746172_54746173insT	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.85dupA	19.37:g.54746175_54746175dupT	ENSP00000379651:p.Pro29fs					LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000245621.5_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000396365.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000391735.3_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000419410.2_Frame_Shift_Ins_p.NH28fs|LILRA6_ENST00000270464.5_Frame_Shift_Ins_p.NH28fs	p.NH28fs						GBM - Glioblastoma multiforme(193;0.105)	3	132_133	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Frame_Shift_Ins	INS	ENST00000396365.2	37	c.84_85insA	CCDS42610.1																																																																																				0.619	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		23	55						23	55	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	lincRNA	INS	-	-	TT	rs57730437|rs371916849		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:121137698_121137699insTT	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							CTACTTACATCTTTTTGTCTTT	0.441																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121137698_121137699insTT																													1.37:g.121137701_121137702dupTT														0	329	-									RNA	INS	ENST00000417218.1	37																																																																																						0.441	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			11	38						11	38	---	---	---	---
ADCK3	56997	broad.mit.edu	37	1	227152980	227152993	+	Frame_Shift_Del	DEL	TTCTCTGCCATGGG	TTCTCTGCCATGGG	-	rs147812454		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:227152980_227152993delTTCTCTGCCATGGG	ENST00000366779.1	+	8	3228_3241	c.457_470delTTCTCTGCCATGGG	c.(457-471)ttctctgccatgggcfs	p.FSAMG153fs	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000458507.2_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	153					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G157D(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CAGAGACTCATTCTCTGCCATGGGCTTTCAGCGA	0.636																																						ENST00000366779.1																			1	Substitution - Missense(1)	p.G157D(1)	large_intestine(1)	endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(457-471)cfs		aarF domain containing kinase 3																																				SO:0001589	frameshift_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152980_227152993delTTCTCTGCCATGGG	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.457_470delTTCTCTGCCATGGG	1.37:g.227152980_227152993delTTCTCTGCCATGGG	ENSP00000355741:p.Phe153fs					ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.FSAMG153fs|ADCK3_ENST00000366776.1_Frame_Shift_Del_p.FSAMG78fs|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.FSAMG101fs|ADCK3_ENST00000366775.1_Start_Codon_Del	p.FSAMG153fs			Q8NI60	ADCK3_HUMAN			8	3228_3241	+			153					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Frame_Shift_Del	DEL	ENST00000366779.1	37	c.457_470delTTCTCTGCCATGGG	CCDS1557.1																																																																																				0.636	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		9	40						9	40	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229625736	229625736	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr1:229625736delG	ENST00000261396.3	-	9	1251	c.1160delC	c.(1159-1161)actfs	p.T387fs	NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	387					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GACTTCTACAGTAACTGCATC	0.348																																						ENST00000261396.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1159-1161)atfs		nucleoporin 133kDa							68.0	69.0	69.0					1																	229625736		2203	4300	6503	SO:0001589	frameshift_variant	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229625736delG		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1160delC	1.37:g.229625736delG	ENSP00000261396:p.Thr387fs					NUP133_ENST00000366679.1_Frame_Shift_Del_p.T387fs|NUP133_ENST00000537506.1_Frame_Shift_Del_p.T371fs	p.T387fs	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN			9	1251	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	387					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Frame_Shift_Del	DEL	ENST00000261396.3	37	c.1160delC	CCDS1579.1																																																																																				0.348	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		15	24						15	24	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	lincRNA	DEL	GTG	GTG	-	rs145880653|rs147886708		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284									long intergenic non-protein coding RNA 969																		AGGTGGGCTTGTGGAGGAATGGG	0.552																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400639_195400641delGTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400639_195400641delGTG														0	1284	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			2	4						2	4	---	---	---	---
SCAMP1	9522	broad.mit.edu	37	5	77714718	77714718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr5:77714718delT	ENST00000538629.1	+	5	620	c.463delT	c.(463-465)ttgfs	p.L155fs	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	155					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TATGTACTACTTGTGGATGTG	0.338																																						ENST00000538629.1																			0											c.(463-465)tgfs		secretory carrier membrane protein 1							49.0	45.0	46.0					5																	77714718		1817	4063	5880	SO:0001589	frameshift_variant	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77714718delT	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.463delT	5.37:g.77714718delT	ENSP00000475496:p.Leu155fs					SCAMP1_ENST00000339292.4_3'UTR	p.L155fs	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	5	620	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)	155					O43587|Q6FG23|Q96BX1|Q96QK5	Frame_Shift_Del	DEL	ENST00000538629.1	37	c.463delT																																																																																					0.338	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		9	8						9	8	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086381	20086382	+	RNA	INS	-	-	T	rs202177940		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr14:20086381_20086382insT	ENST00000548261.1	+	0	135																											GTCTTACAAGGTAAAAAAAATG	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086381_20086382insT																													14.37:g.20086382_20086382dupT														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	3						3	3	---	---	---	---
SCNN1B	6338	broad.mit.edu	37	16	23391989	23391989	+	Frame_Shift_Del	DEL	G	G	-	rs140945152		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr16:23391989delG	ENST00000343070.2	+	13	1966	c.1790delG	c.(1789-1791)cgcfs	p.R597fs	SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	597			R -> H. {ECO:0000269|PubMed:9674649}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACGGCCCCCCGCAGCCCCAAC	0.711																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(1789-1791)ccfs		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						22.0	26.0	25.0					16																	23391989		2194	4296	6490	SO:0001589	frameshift_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23391989delG	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1790delG	16.37:g.23391989delG	ENSP00000345751:p.Arg597fs					SCNN1B_ENST00000307331.5_Frame_Shift_Del_p.R642fs|SCNN1B_ENST00000568923.1_Frame_Shift_Del_p.R570fs|SCNN1B_ENST00000568085.1_Frame_Shift_Del_p.R561fs	p.R597fs	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	13	1966	+			597		R -> H.			C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Frame_Shift_Del	DEL	ENST00000343070.2	37	c.1790delG	CCDS10609.1																																																																																				0.711	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			23	40						23	40	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248899	44248899	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chr17:44248899delC	ENST00000262419.6	-	2	1081	c.611delG	c.(610-612)ggtfs	p.G204fs	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	204					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											ATTGGTCATACCCCCCTTCAA	0.458																																						ENST00000262419.6																			0											c.(610-612)gtfs		KAT8 regulatory NSL complex subunit 1																																				SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44248899delC	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.611delG	17.37:g.44248899delC	ENSP00000262419:p.Gly204fs					KANSL1_ENST00000432791.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.G204fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.G204fs	p.G204fs	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN			2	1081	-			204					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.611delG	CCDS11503.1																																																																																				0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		53	266						53	266	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-CV-6962-01A-11D-1912-08	TCGA-CV-6962-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b2767d9-10b4-4ec4-9437-5a5186e284ca	e7311353-3925-4bc6-96a7-86ad927a0ed1	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			100873336							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				5	10						5	10	---	---	---	---
