#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
GALR3	8484	broad.mit.edu	37	22	38221104	38221104	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:38221104C>T	ENST00000249041.2	+	2	759	c.734C>T	c.(733-735)gCg>gTg	p.A245V		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	245					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GCGCTCTACGCGCTCTGCTGG	0.786																																						ENST00000249041.2																			0				endometrium(1)|liver(2)|lung(1)	4						c.(733-735)gCg>gTg		galanin receptor 3							5.0	5.0	5.0					22																	38221104		1659	3145	4804	SO:0001583	missense	8484				feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr22:38221104C>T	AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"""GPCR / Class A : Galanin receptors"""	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.734C>T	22.37:g.38221104C>T	ENSP00000249041:p.Ala245Val						p.A245V	NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN			2	759	+	Melanoma(58;0.045)		245					Q53YJ4	Missense_Mutation	SNP	ENST00000249041.2	37	c.734C>T	CCDS13958.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487711	0.84854	.	.	ENSG00000128310	ENST00000249041	T	0.70164	-0.46	4.17	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.114355	0.64402	D	0.000013	T	0.50548	0.1622	N	0.17872	0.535	0.38675	D	0.952396	D	0.55385	0.971	P	0.47573	0.55	T	0.51537	-0.8693	10	0.06494	T	0.89	.	13.0166	0.58762	0.0:0.3257:0.6743:0.0	.	245	O60755	GALR3_HUMAN	V	245	ENSP00000249041:A245V	ENSP00000249041:A245V	A	+	2	0	GALR3	36551050	1.000000	0.71417	0.730000	0.30809	0.881000	0.50899	6.487000	0.73633	0.719000	0.32188	0.313000	0.20887	GCG		0.786	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319452.1			3	13	0	0	0	1	0	3	13				
ARID1A	8289	broad.mit.edu	37	1	27059232	27059232	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:27059232A>G	ENST00000324856.7	+	4	2240	c.1869A>G	c.(1867-1869)ggA>ggG	p.G623G	ARID1A_ENST00000457599.2_Silent_p.G623G|ARID1A_ENST00000374152.2_Silent_p.G240G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	623					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGTAAGGGAGGGCAAGAAG	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1867-1869)ggA>ggG		AT rich interactive domain 1A (SWI-like)							136.0	126.0	129.0					1																	27059232		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27059232A>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1869A>G	1.37:g.27059232A>G						ARID1A_ENST00000374152.2_Silent_p.G240G|ARID1A_ENST00000457599.2_Silent_p.G623G	p.G623G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	4	2240	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	623					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.1869A>G	CCDS285.1																																																																																				0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		35	92	0	0	0	1	0	35	92				
TUBGCP6	85378	broad.mit.edu	37	22	50655514	50655514	+	IGR	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:50655514C>T	ENST00000248846.5	-	0	5612				SELO_ENST00000492092.1_3'UTR|TUBGCP6_ENST00000491449.1_5'Flank|SELO_ENST00000380903.2_Missense_Mutation_p.A601V			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AACTACATCGCGCAGAATGCC	0.667																																						ENST00000380903.2																			0											c.(1801-1803)gCg>gTg									37.0	43.0	41.0					22																	50655514		2140	4247	6387	SO:0001628	intergenic_variant	83642							g.chr22:50655514C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150		22.37:g.50655514C>T						RP3-402G11.5_ENST00000492092.1_3'UTR	p.A601V	NM_031454.1	NP_113642.1					8	1860	+								Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1802C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810705	0.90707	.	.	ENSG00000073169	ENST00000380903	T	0.39997	1.05	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.60945	0.2308	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.958;0.992	T	0.63541	-0.6614	10	0.72032	D	0.01	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	601;444	Q9BVL4;Q6ICA4	SELO_HUMAN;.	V	601	ENSP00000370288:A601V	ENSP00000370288:A601V	A	+	2	0	RP3-402G11.5	48997641	1.000000	0.71417	0.448000	0.26945	0.331000	0.28603	7.108000	0.77055	2.404000	0.81709	0.491000	0.48974	GCG		0.667	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		15	77	0	0	0	1	0	15	77				
DIP2A	23181	broad.mit.edu	37	21	47965129	47965129	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:47965129C>T	ENST00000417564.2	+	19	2277	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	DIP2A_ENST00000435722.3_Silent_p.S752S|DIP2A_ENST00000400274.1_Silent_p.S748S|DIP2A_ENST00000466639.1_Silent_p.S709S|DIP2A_ENST00000427143.2_Silent_p.S688S|DIP2A_ENST00000318711.7_Silent_p.S753S|DIP2A_ENST00000457905.3_Silent_p.S752S			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	752					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCGTCAGTTCCAGTGCAACTG	0.388																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2257-2259)tcC>tcT		DIP2 disco-interacting protein 2 homolog A (Drosophila)							189.0	178.0	182.0					21																	47965129		1960	4152	6112	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47965129C>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2256C>T	21.37:g.47965129C>T						DIP2A_ENST00000400274.1_Silent_p.S748S|DIP2A_ENST00000466639.1_Silent_p.S709S|DIP2A_ENST00000435722.3_Silent_p.S752S|DIP2A_ENST00000417564.2_Silent_p.S752S|DIP2A_ENST00000427143.2_Silent_p.S688S|DIP2A_ENST00000457905.3_Silent_p.S752S	p.S753S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	19	2442	+	Breast(49;0.0933)		752					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.2259C>T	CCDS46655.1																																																																																				0.388	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		8	50	0	0	0	1	0	8	50				
OBSCN	84033	broad.mit.edu	37	1	228495023	228495023	+	Missense_Mutation	SNP	G	G	A	rs368911997		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:228495023G>A	ENST00000422127.1	+	46	12301	c.12257G>A	c.(12256-12258)cGg>cAg	p.R4086Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4086Q|OBSCN_ENST00000570156.2_Missense_Mutation_p.R5043Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1205Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1720Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4086	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACATAGCCCGGCTGTGCTGT	0.622																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(15127-15129)cGg>cAg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		G	GLN/ARG,GLN/ARG	0,4156		0,0,2078	50.0	60.0	57.0		12257,12257	3.8	1.0	1		57	1,8433		0,1,4216	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	43,43	0,1,6294	AA,AG,GG		0.0119,0.0,0.0079	possibly-damaging,possibly-damaging	4086/7969,4086/6621	228495023	1,12589	2078	4217	6295	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228495023G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12257G>A	1.37:g.228495023G>A	ENSP00000409493:p.Arg4086Gln					OBSCN_ENST00000284548.11_Missense_Mutation_p.R4086Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4086Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1205Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1720Q	p.R5043Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			57	15202	+		Prostate(94;0.0405)	4086					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.15128G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669271	0.67814	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.79	3.82	0.43975	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.419149	0.21068	N	0.080718	T	0.67468	0.2896	L	0.41632	1.29	0.19775	N	0.999953	D;D	0.76494	0.999;0.976	P;P	0.62560	0.904;0.668	T	0.57075	-0.7873	10	0.11485	T	0.65	.	3.4629	0.07539	0.2714:0.0:0.5483:0.1803	.	4086;4086	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	4086;4086;1720;1205	ENSP00000284548:R4086Q;ENSP00000409493:R4086Q;ENSP00000355668:R1720Q;ENSP00000355670:R1205Q	ENSP00000284548:R4086Q	R	+	2	0	OBSCN	226561646	0.000000	0.05858	0.994000	0.49952	0.218000	0.24690	0.241000	0.18065	1.460000	0.47911	0.448000	0.29417	CGG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	89	0	0	0	1	0	15	89				
KIR3DL2	3812	broad.mit.edu	37	19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A	rs189906225		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20610	0.0		0.0	False		,,,				2504	0.0					ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1213-1215)Gtt>Att		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							278.0	266.0	270.0					19																	55378031		2203	4300	6503	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378031G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1213G>A	19.37:g.55378031G>A	ENSP00000325525:p.Val405Ile					KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I	p.V405I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1246	+			405					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1213G>A	CCDS12906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.075	0.382210	0.11524	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00470	7.23;7.22;7.2	1.41	-1.97	0.07503	.	.	.	.	.	T	0.00754	0.0025	L	0.51422	1.61	0.09310	N	1	B;D;D	0.65815	0.358;0.992;0.995	B;D;D	0.72338	0.153;0.949;0.977	T	0.49428	-0.8941	9	0.72032	D	0.01	.	4.4266	0.11505	0.5673:0.0:0.4327:0.0	.	388;405;405	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	I	405;405;388	ENSP00000384528:V405I;ENSP00000325525:V405I;ENSP00000270442:V388I	ENSP00000384528:V405I	V	+	1	0	KIR3DL1;KIR3DL2	60069843	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.341000	0.07811	-0.745000	0.04772	-0.515000	0.04445	GTT		0.512	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			50	221	0	0	0	1	0	50	221				
SCN8A	6334	broad.mit.edu	37	12	52100401	52100401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:52100401G>A	ENST00000354534.6	+	11	1715	c.1537G>A	c.(1537-1539)Gag>Aag	p.E513K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E513K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E513K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	513					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGGGGATCCCGAGAAGGTGTT	0.453																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1537-1539)Gag>Aag		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						46.0	47.0	46.0					12																	52100401		1912	4131	6043	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52100401G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1537G>A	12.37:g.52100401G>A	ENSP00000346534:p.Glu513Lys					SCN8A_ENST00000550891.1_Missense_Mutation_p.E513K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E513K	p.E513K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	11	1715	+			513					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1537G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863221	0.71949	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.41	4.41	0.53225	Domain of unknown function DUF3451 (1);	0.000000	0.56097	D	0.000033	D	0.95837	0.8645	M	0.81802	2.56	0.80722	D	1	P;P;D;P	0.65815	0.865;0.882;0.995;0.577	B;B;D;B	0.68192	0.334;0.128;0.956;0.234	D	0.95878	0.8896	10	0.52906	T	0.07	.	17.5555	0.87888	0.0:0.0:1.0:0.0	.	513;513;513;513	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	K	513;513;513;513;426;311	ENSP00000448415:E513K;ENSP00000346534:E513K;ENSP00000440360:E513K;ENSP00000347255:E513K;ENSP00000447567:E311K	ENSP00000346534:E513K	E	+	1	0	SCN8A	50386668	1.000000	0.71417	0.992000	0.48379	0.978000	0.69477	9.578000	0.98200	2.448000	0.82819	0.462000	0.41574	GAG		0.453	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		3	17	0	0	0	1	0	3	17				
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1636-1638)cAg>cGg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	61.0	61.0					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936095A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q546R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1794	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		546		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1637A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	19	0	0	0	1	0	16	19				
DPP10	57628	broad.mit.edu	37	2	116497323	116497323	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:116497323C>G	ENST00000410059.1	+	9	1186	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	DPP10_ENST00000409163.1_Missense_Mutation_p.L186V|DPP10_ENST00000393147.2_Missense_Mutation_p.L240V|DPP10_ENST00000310323.8_Missense_Mutation_p.L229V|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	236						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGAACTCCTGCATTCTCA	0.458																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(706-708)Ctg>Gtg		dipeptidyl-peptidase 10 (non-functional)							130.0	121.0	124.0					2																	116497323		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497323C>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.706C>G	2.37:g.116497323C>G	ENSP00000386565:p.Leu236Val					DPP10_ENST00000409163.1_Missense_Mutation_p.L186V|DPP10_ENST00000393147.2_Missense_Mutation_p.L240V|DPP10_ENST00000310323.8_Missense_Mutation_p.L229V|DPP10_ENST00000488208.1_3'UTR	p.L236V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			9	1186	+			236					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.706C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861814	0.71949	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.73434	0.3586	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	D;D;D;D	0.85130	0.98;0.997;0.988;0.988	T	0.80118	-0.1516	10	0.87932	D	0	-8.7349	18.0461	0.89332	0.0:1.0:0.0:0.0	.	229;240;232;236	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	236;186;232;240;229;186	ENSP00000386565:L236V;ENSP00000387038:L186V;ENSP00000376854:L232V;ENSP00000376855:L240V;ENSP00000309066:L229V	ENSP00000309066:L229V	L	+	1	2	DPP10	116213793	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.878000	0.56130	2.814000	0.96858	0.563000	0.77884	CTG		0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		13	57	0	0	0	1	0	13	57				
EML2	24139	broad.mit.edu	37	19	46120937	46120937	+	Missense_Mutation	SNP	C	C	T	rs142161460	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:46120937C>T	ENST00000245925.3	-	13	1323	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	EML2_ENST00000587152.1_Missense_Mutation_p.G626S|EML2_ENST00000536630.1_Missense_Mutation_p.G572S|EML2_ENST00000589876.1_Missense_Mutation_p.G425S	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	425	Tandem atypical propeller in EMLs. {ECO:0000250}.			DPARSAGFH -> MAAAGHGDP (in Ref. 3; AAH32630). {ECO:0000305}.	negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGGTGGAAGCCGGCTGAGCGG	0.612																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1714-1716)Ggc>Agc		echinoderm microtubule associated protein like 2			SER/GLY,SER/GLY,SER/GLY	2,4404	4.2+/-10.8	0,2,2201	47.0	44.0	45.0		1876,1714,1273	4.8	1.0	19	dbSNP_134	45	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	EML2	NM_001193268.1,NM_001193269.1,NM_012155.2	56,56,56	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	probably-damaging,probably-damaging,probably-damaging	626/851,572/797,425/650	46120937	6,13000	2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46120937C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1273G>A	19.37:g.46120937C>T	ENSP00000245925:p.Gly425Ser					EML2_ENST00000589876.1_Missense_Mutation_p.G425S|EML2_ENST00000587152.1_Missense_Mutation_p.G626S|EML2_ENST00000245925.3_Missense_Mutation_p.G425S	p.G572S	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	16	1852	-		Ovarian(192;0.179)|all_neural(266;0.224)	425					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1714G>A	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607604	0.87157	4.54E-4	4.65E-4	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.36878	1.23;1.23	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.978;0.999;0.943	T	0.46176	-0.9210	10	0.31617	T	0.26	-27.2533	15.4622	0.75366	0.0:1.0:0.0:0.0	.	591;572;425	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	S	572;425;583	ENSP00000442365:G572S;ENSP00000245925:G425S	ENSP00000245925:G425S	G	-	1	0	EML2	50812777	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.349000	0.66010	2.504000	0.84457	0.563000	0.77884	GGC		0.612	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		5	27	0	0	0	1	0	5	27				
PDZD9	255762	broad.mit.edu	37	16	21995685	21995685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:21995685G>A	ENST00000424898.2	-	4	760	c.698C>T	c.(697-699)tCt>tTt	p.S233F	PDZD9_ENST00000286143.6_Missense_Mutation_p.S171F|PDZD9_ENST00000537222.2_Missense_Mutation_p.S173F			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	233										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						AGAGGAGGAAGAGCTTTCATT	0.448																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(511-513)tCt>tTt		PDZ domain containing 9							281.0	271.0	274.0					16																	21995685		2198	4300	6498	SO:0001583	missense	255762							g.chr16:21995685G>A	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.698C>T	16.37:g.21995685G>A	ENSP00000400514:p.Ser233Phe					PDZD9_ENST00000537222.2_Missense_Mutation_p.S173F|PDZD9_ENST00000424898.2_Missense_Mutation_p.S233F	p.S171F			Q8IXQ8	PDZD9_HUMAN			5	833	-			233					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.512C>T		.	.	.	.	.	.	.	.	.	.	G	16.18	3.050565	0.55218	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.57273	0.41	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000017	T	0.69602	0.3129	M	0.64997	1.995	0.29314	N	0.867838	D	0.76494	0.999	D	0.87578	0.998	T	0.67941	-0.5540	10	0.87932	D	0	-13.4461	14.7347	0.69406	0.0:0.0:1.0:0.0	.	171	Q8IXQ8-2	.	F	233;173;171	ENSP00000400514:S233F	ENSP00000286143:S171F	S	-	2	0	PDZD9	21903186	0.968000	0.33430	0.495000	0.27527	0.429000	0.31625	5.581000	0.67471	2.542000	0.85734	0.563000	0.77884	TCT		0.448	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		47	208	0	0	0	1	0	47	208				
DSG3	1830	broad.mit.edu	37	18	29055668	29055668	+	Silent	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr18:29055668C>A	ENST00000257189.4	+	16	2528	c.2445C>A	c.(2443-2445)atC>atA	p.I815I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	815					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTTGTTGATCTATGATAATG	0.453																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(2443-2445)atC>atA		desmoglein 3							132.0	125.0	128.0					18																	29055668		2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29055668C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2445C>A	18.37:g.29055668C>A							p.I815I	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2528	+			815					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.2445C>A	CCDS11898.1																																																																																				0.453	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		27	43	1	0	2.24059e-21	1	2.42226e-21	27	43				
CNTNAP4	85445	broad.mit.edu	37	16	76572189	76572189	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:76572189G>C	ENST00000476707.1	+	18	3320	c.3181G>C	c.(3181-3183)Gtg>Ctg	p.V1061L	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V1057L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V985L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V1009L|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1058	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTGCTTTTTGTGAGCTCCTT	0.388																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(3169-3171)Gtg>Ctg		contactin associated protein-like 4							114.0	109.0	111.0					16																	76572189		1834	4105	5939	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76572189G>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3181G>C	16.37:g.76572189G>C	ENSP00000417628:p.Val1061Leu					CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V1009L|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V985L|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.V1061L	p.V1057L	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			20	3554	+			1058			Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3169G>C		.	.	.	.	.	.	.	.	.	.	G	12.56	1.973999	0.34848	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.35	-7.65	0.01281	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.846468	0.09821	N	0.751514	T	0.23727	0.0574	.	.	.	0.20074	N	0.999936	B;B;B	0.12013	0.002;0.002;0.005	B;B;B	0.20955	0.032;0.026;0.029	T	0.22906	-1.0203	9	0.35671	T	0.21	.	8.545	0.33415	0.2178:0.2732:0.509:0.0	.	985;1061;1058	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	L	1057;1009;985;1061	ENSP00000306893:V1057L;ENSP00000439733:V1009L;ENSP00000418741:V985L;ENSP00000417628:V1061L	ENSP00000306893:V1057L	V	+	1	0	CNTNAP4	75129690	0.102000	0.21896	0.003000	0.11579	0.979000	0.70002	0.358000	0.20216	-1.416000	0.02019	0.655000	0.94253	GTG		0.388	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		16	81	0	0	0	1	0	16	81				
COL21A1	81578	broad.mit.edu	37	6	56006598	56006598	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:56006598C>T	ENST00000244728.5	-	12	1924	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	COL21A1_ENST00000370819.1_Silent_p.G506G|COL21A1_ENST00000535941.1_Silent_p.G509G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	509	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CACCATCTCGCCCTGGTTCTC	0.358																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(1525-1527)ggG>ggA		collagen, type XXI, alpha 1							174.0	158.0	163.0					6																	56006598		1922	4135	6057	SO:0001819	synonymous_variant	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006598C>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1527G>A	6.37:g.56006598C>T						COL21A1_ENST00000370819.1_Silent_p.G506G|COL21A1_ENST00000535941.1_Silent_p.G509G	p.G509G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1924	-	Lung NSC(77;0.0483)		509					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Silent	SNP	ENST00000244728.5	37	c.1527G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	9.247	1.039720	0.19669	.	.	ENSG00000124749	ENST00000456983	D	0.99619	-6.28	5.15	1.29	0.21616	.	0.000000	0.56097	D	0.000022	D	0.98701	0.9564	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.98748	1.0719	7	0.87932	D	0	.	5.4463	0.16537	0.0:0.5917:0.1483:0.26	.	.	.	.	D	73	ENSP00000390958:G73D	ENSP00000390958:G73D	G	-	2	0	COL21A1	56114557	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.025000	0.13577	0.275000	0.22094	0.655000	0.94253	GGC		0.358	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			20	39	0	0	0	1	0	20	39				
WNT9A	7483	broad.mit.edu	37	1	228109449	228109449	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:228109449C>T	ENST00000272164.5	-	4	878	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	290					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TCCAGGTGCACCAGCTCTGGA	0.692																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(868-870)Gtg>Atg		wingless-type MMTV integration site family, member 9A							23.0	25.0	24.0					1																	228109449		2200	4297	6497	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228109449C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.868G>A	1.37:g.228109449C>T	ENSP00000272164:p.Val290Met					WNT9A_ENST00000497852.1_Intron	p.V290M	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			4	878	-		Prostate(94;0.0405)	290					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.868G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493365	0.26774	.	.	ENSG00000143816	ENST00000272164	D	0.81499	-1.5	4.64	4.64	0.57946	.	0.153676	0.44902	D	0.000419	D	0.87055	0.6082	M	0.94021	3.485	0.39751	D	0.971887	B	0.29612	0.251	B	0.39152	0.292	D	0.89084	0.3478	10	0.87932	D	0	.	11.8465	0.52387	0.1747:0.8252:0.0:0.0	.	290	O14904	WNT9A_HUMAN	M	290	ENSP00000272164:V290M	ENSP00000272164:V290M	V	-	1	0	WNT9A	226176072	0.878000	0.30173	0.835000	0.33067	0.024000	0.10985	1.527000	0.35975	2.414000	0.81942	0.484000	0.47621	GTG		0.692	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		13	59	0	0	0	1	0	13	59				
MEF2A	4205	broad.mit.edu	37	15	100211631	100211631	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:100211631A>T	ENST00000557785.1	+	5	711	c.362A>T	c.(361-363)gAt>gTt	p.D121V	MEF2A_ENST00000558812.1_Missense_Mutation_p.D53V|MEF2A_ENST00000453228.2_Missense_Mutation_p.D121V|MEF2A_ENST00000449277.2_Missense_Mutation_p.D53V|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000557942.1_Missense_Mutation_p.D121V|MEF2A_ENST00000338042.6_Missense_Mutation_p.D121V	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	121					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CTAAATGAAGATAGTGATTTT	0.368																																						ENST00000338042.6																			0				endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12						c.(361-363)gAt>gTt		myocyte enhancer factor 2A							178.0	164.0	168.0					15																	100211631		1568	3582	5150	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100211631A>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.362A>T	15.37:g.100211631A>T	ENSP00000453441:p.Asp121Val					MEF2A_ENST00000558812.1_Missense_Mutation_p.D53V|MEF2A_ENST00000453228.2_Missense_Mutation_p.D121V|MEF2A_ENST00000354410.5_Intron|MEF2A_ENST00000449277.2_Missense_Mutation_p.D53V|MEF2A_ENST00000557942.1_Missense_Mutation_p.D121V|MEF2A_ENST00000557785.1_Missense_Mutation_p.D121V	p.D121V			Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		4	681	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		121					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.362A>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173560	0.78452	.	.	ENSG00000068305	ENST00000453228;ENST00000338042;ENST00000449277	T;T;T	0.63096	-0.02;-0.02;-0.02	5.4	5.4	0.78164	.	.	.	.	.	T	0.70133	0.3189	L	0.60455	1.87	0.58432	D	0.999998	B;P;P;P	0.36837	0.29;0.571;0.553;0.553	P;P;P;P	0.48166	0.533;0.569;0.51;0.51	T	0.73344	-0.4012	9	0.87932	D	0	.	15.7087	0.77606	1.0:0.0:0.0:0.0	.	53;42;121;121	B4DFQ7;Q7Z6C9;Q02078-6;Q02078-2	.;.;.;.	V	121;121;53	ENSP00000404110:D121V;ENSP00000337202:D121V;ENSP00000399460:D53V	ENSP00000337202:D121V	D	+	2	0	MEF2A	98029154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.175000	0.68902	0.459000	0.35465	GAT		0.368	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			10	60	0	0	0	1	0	10	60				
ABCC9	10060	broad.mit.edu	37	12	22068678	22068678	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:22068678G>A	ENST00000261201.4	-	5	739	c.740C>T	c.(739-741)gCa>gTa	p.A247V	ABCC9_ENST00000345162.2_Missense_Mutation_p.A247V|ABCC9_ENST00000261200.4_Missense_Mutation_p.A247V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	247					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TTTTCCAATTGCCTTCAGATC	0.363																																						ENST00000261200.4																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(739-741)gCa>gTa		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						145.0	134.0	138.0					12																	22068678		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068678G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.740C>T	12.37:g.22068678G>A	ENSP00000261201:p.Ala247Val					ABCC9_ENST00000345162.2_Missense_Mutation_p.A247V|ABCC9_ENST00000261201.4_Missense_Mutation_p.A247V	p.A247V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN			5	739	-			247					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.740C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365625	0.41902	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92149	-2.97;-2.98;-2.96	4.91	4.91	0.64330	.	0.225294	0.47093	D	0.000259	D	0.86130	0.5859	N	0.13043	0.29	0.37925	D	0.931825	B;B	0.14438	0.009;0.01	B;B	0.18561	0.009;0.022	T	0.82912	-0.0222	10	0.45353	T	0.12	-16.6245	18.2902	0.90127	0.0:0.0:1.0:0.0	.	247;247	O60706;O60706-2	ABCC9_HUMAN;.	V	247	ENSP00000261200:A247V;ENSP00000261201:A247V;ENSP00000261202:A247V	ENSP00000261200:A247V	A	-	2	0	ABCC9	21959945	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.092000	0.76930	2.548000	0.85928	0.650000	0.86243	GCA		0.363	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		31	46	0	0	0	1	0	31	46				
CTSF	8722	broad.mit.edu	37	11	66329094	66329094	+	IGR	SNP	G	G	A	rs557548998	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:66329094G>A	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAGCACACCGTCTACAGCAT	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		16950	0.0		0.0	False		,,,				2504	0.002					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							39.0	41.0	40.0					11																	66329094		2155	4255	6410	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66329094G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66329094G>A						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	2258	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.567	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		15	12	0	0	0	1	0	15	12				
SLC30A10	55532	broad.mit.edu	37	1	220088829	220088829	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:220088829G>C	ENST00000366926.3	-	4	1581	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.Q229E	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	474					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGGTCCTCCTGAGTTTTGTTA	0.448																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(1420-1422)Cag>Gag		solute carrier family 30, member 10							188.0	184.0	186.0					1																	220088829		2203	4300	6503	SO:0001583	missense	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220088829G>C	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1420C>G	1.37:g.220088829G>C	ENSP00000355893:p.Gln474Glu					SLC30A10_ENST00000536446.1_Missense_Mutation_p.Q229E|SLC30A10_ENST00000484079.1_5'UTR	p.Q474E	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	4	1581	-			474					Q49AL9|Q9NPW0	Missense_Mutation	SNP	ENST00000366926.3	37	c.1420C>G	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115167	0.37339	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.68479	-0.33;0.3	6.03	5.12	0.69794	.	0.403752	0.23981	N	0.042665	T	0.51466	0.1676	L	0.32530	0.975	0.21527	N	0.999658	B	0.29037	0.231	B	0.26770	0.073	T	0.39941	-0.9589	9	.	.	.	-12.0766	8.7367	0.34532	0.175:0.0:0.825:0.0	.	474	Q6XR72	ZNT10_HUMAN	E	474;229	ENSP00000355893:Q474E;ENSP00000439489:Q229E	.	Q	-	1	0	SLC30A10	218155452	0.961000	0.32948	0.067000	0.19924	0.876000	0.50452	4.858000	0.62947	1.564000	0.49628	0.557000	0.71058	CAG		0.448	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		53	147	0	0	0	1	0	53	147				
TRPV1	7442	broad.mit.edu	37	17	3493397	3493397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:3493397C>A	ENST00000571088.1	-	6	961	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	SHPK_ENST00000572705.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.E250*|TRPV1_ENST00000174621.6_Nonsense_Mutation_p.E248*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.E250*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.E250*	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	250					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGGGCAGTTCACCTGCATGA	0.642																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(742-744)Gaa>Taa		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						20.0	23.0	22.0					17																	3493397		2086	4215	6301	SO:0001587	stop_gained	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3493397C>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.748G>T	17.37:g.3493397C>A	ENSP00000461007:p.Glu250*					SHPK_ENST00000572705.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.E250*|TRPV1_ENST00000571088.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.E250*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.E250*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.E250*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.E250*	p.E248*			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	5	1031	-			250					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Nonsense_Mutation	SNP	ENST00000571088.1	37	c.742G>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	37	6.056848	0.97241	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.1856	17.4129	0.87492	0.0:1.0:0.0:0.0	.	.	.	.	X	250;250;248;250;250	.	ENSP00000174621:E248X	E	-	1	0	TRPV1	3440146	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	7.347000	0.79356	2.439000	0.82584	0.467000	0.42956	GAA		0.642	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		13	10	1	0	4.36969e-10	1	4.59967e-10	13	10				
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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"""		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|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	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)Cct>Tct	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	65.0					17																	7577106		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.chr17:7577106G>A	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.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	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_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	p.P278S	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)	8	964	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	18	0	0	0	1	0	31	18				
SUCO	51430	broad.mit.edu	37	1	172558867	172558867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:172558867C>G	ENST00000263688.3	+	18	2845	c.2626C>G	c.(2626-2628)Ctt>Gtt	p.L876V	SUCO_ENST00000608151.1_Missense_Mutation_p.L1028V|SUCO_ENST00000367723.4_Missense_Mutation_p.L1027V|SUCO_ENST00000610051.1_Intron	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	876					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGAAGATGCCCTTTTGAGAGG	0.363																																						ENST00000367723.3																			0											c.(3082-3084)Ctt>Gtt		SUN domain containing ossification factor							81.0	83.0	83.0					1																	172558867		2202	4299	6501	SO:0001583	missense	51430							g.chr1:172558867C>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2626C>G	1.37:g.172558867C>G	ENSP00000263688:p.Leu876Val					SUCO_ENST00000263688.3_Missense_Mutation_p.L876V	p.L1028V	NM_016227.2	NP_057311.2					17	3206	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	c.3082C>G	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331155	0.24167	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.29	4.35	0.52113	.	0.328281	0.33180	N	0.005187	T	0.30510	0.0767	L	0.54323	1.7	0.37565	D	0.919202	B;B;B	0.22080	0.02;0.064;0.02	B;B;B	0.21360	0.009;0.034;0.008	T	0.28106	-1.0054	9	0.45353	T	0.12	-6.9442	4.3202	0.11013	0.164:0.5934:0.1584:0.0843	.	876;1028;876	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	1028;876	.	ENSP00000263688:L876V	L	+	1	0	C1orf9	170825490	0.897000	0.30589	0.997000	0.53966	0.994000	0.84299	1.102000	0.31050	1.178000	0.42870	0.655000	0.94253	CTT		0.363	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		44	88	0	0	0	1	0	44	88				
SEZ6L	23544	broad.mit.edu	37	22	26688728	26688728	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:26688728T>C	ENST00000248933.6	+	2	546	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S151P|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S151P			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	151	O-glycosylated at one site.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGCCAGCGTCCCAGGGCCT	0.662																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(451-453)Tcc>Ccc		seizure related 6 homolog (mouse)-like							41.0	38.0	39.0					22																	26688728		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688728T>C	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.451T>C	22.37:g.26688728T>C	ENSP00000248933:p.Ser151Pro					SEZ6L_ENST00000248933.6_Missense_Mutation_p.S151P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S151P|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S151P	p.S151P	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	647	+			151					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.451T>C	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	T	6.267	0.417449	0.11870	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.28666	1.89;1.96;2.08;1.85;1.6	3.8	-7.2	0.01495	.	1.323820	0.05651	N	0.585206	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.11235	0.001;0.001;0.004;0.001;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.003;0.001;0.001	T	0.19910	-1.0291	10	0.23302	T	0.38	.	3.7144	0.08433	0.1144:0.2618:0.4568:0.167	.	151;151;151;151;151;151	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	P	151	ENSP00000384772:S151P;ENSP00000437037:S151P;ENSP00000354185:S151P;ENSP00000248933:S151P;ENSP00000342661:S151P	ENSP00000248933:S151P	S	+	1	0	SEZ6L	25018728	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.305000	0.08188	-1.439000	0.01962	-0.487000	0.04747	TCC		0.662	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			7	50	0	0	0	1	0	7	50				
ADAM32	203102	broad.mit.edu	37	8	39080613	39080613	+	Missense_Mutation	SNP	G	G	A	rs553737738	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:39080613G>A	ENST00000379907.4	+	14	1508	c.1381G>A	c.(1381-1383)Gct>Act	p.A461T	ADAM32_ENST00000519315.1_Missense_Mutation_p.A355T|ADAM32_ENST00000437682.2_Missense_Mutation_p.A362T	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	461	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGTGACATCGCTGAAAATTG	0.338													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14577	0.0		0.0	False		,,,				2504	0.001					ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1381-1383)Gct>Act		ADAM metallopeptidase domain 32							68.0	64.0	65.0					8																	39080613		1890	4112	6002	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39080613G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1381G>A	8.37:g.39080613G>A	ENSP00000369238:p.Ala461Thr					ADAM32_ENST00000519315.1_Missense_Mutation_p.A355T|ADAM32_ENST00000437682.2_Missense_Mutation_p.A362T	p.A461T	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		14	1508	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	461			Disintegrin.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1381G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	7.233	0.599782	0.13939	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	T;T;T	0.11495	2.77;2.77;2.77	5.55	-11.1	0.00147	Blood coagulation inhibitor, Disintegrin (5);	1.201300	0.06507	N	0.737252	T	0.05410	0.0143	L	0.28776	0.89	0.09310	N	1	B;B;B	0.27882	0.094;0.192;0.003	B;B;B	0.26969	0.028;0.075;0.005	T	0.20571	-1.0271	10	0.39692	T	0.17	.	3.9702	0.09449	0.2079:0.4231:0.2404:0.1286	.	362;355;461	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	T	362;355;461	ENSP00000405978:A362T;ENSP00000429422:A355T;ENSP00000369238:A461T	ENSP00000369238:A461T	A	+	1	0	ADAM32	39199770	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.209000	0.00141	-2.625000	0.00437	-2.309000	0.00256	GCT		0.338	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		10	9	0	0	0	1	0	10	9				
RUNX1T1	862	broad.mit.edu	37	8	93029456	93029456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:93029456G>A	ENST00000523629.1	-	3	678	c.224C>T	c.(223-225)aCg>aTg	p.T75M	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T48M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T75M|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T48M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T86M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000522163.1_5'Flank	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	75					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTACTTACACGTTGTCGGTGT	0.388																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(223-225)aCg>aTg		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							170.0	145.0	154.0					8																	93029456		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93029456G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.224C>T	8.37:g.93029456G>A	ENSP00000428543:p.Thr75Met					RUNX1T1_ENST00000518844.1_Missense_Mutation_p.T48M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.T38M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.T75M|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.T38M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.T86M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.T48M	p.T75M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	678	-			75					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.224C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303027	0.60195	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556;ENST00000521319;ENST00000520583;ENST00000523168;ENST00000518823;ENST00000518317;ENST00000521375;ENST00000520974;ENST00000518832	T;T;T;T;T;T;T;T;T;T;T	0.50277	1.35;1.36;1.35;1.38;1.38;1.38;1.34;1.36;0.76;0.75;1.36	5.66	5.66	0.87406	.	0.091385	0.85682	D	0.000000	T	0.57681	0.2070	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D	0.65815	0.995;0.995;0.992;0.991;0.995	P;P;P;P;P	0.60345	0.776;0.776;0.75;0.776;0.873	T	0.56117	-0.8032	10	0.52906	T	0.07	-1.5468	20.1225	0.97967	0.0:0.0:1.0:0.0	.	86;86;48;75;48	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	M	75;48;75;38;38;38;86;48;38;75;38;75;38;75;75;48;38;38;75;75;48;48;75;75;38	ENSP00000428543:T75M;ENSP00000379520:T48M;ENSP00000265814:T75M;ENSP00000353504:T38M;ENSP00000390137:T38M;ENSP00000428742:T38M;ENSP00000402257:T86M;ENSP00000430728:T48M;ENSP00000429728:T38M;ENSP00000431094:T75M;ENSP00000427763:T38M	ENSP00000265814:T75M	T	-	2	0	RUNX1T1	93098632	1.000000	0.71417	0.153000	0.22517	0.134000	0.20937	7.779000	0.85648	2.831000	0.97527	0.650000	0.86243	ACG		0.388	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		29	64	0	0	0	1	0	29	64				
PHKG2	5261	broad.mit.edu	37	16	30764756	30764756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:30764756A>G	ENST00000563588.1	+	6	673	c.434A>G	c.(433-435)cAt>cGt	p.H145R	PHKG2_ENST00000424889.3_Missense_Mutation_p.H145R|PHKG2_ENST00000328273.7_Missense_Mutation_p.H145R|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AGCTTTCTCCATGCCAACAAC	0.557																																						ENST00000563588.1																			0				ovary(1)|skin(1)	2						c.(433-435)cAt>cGt		phosphorylase kinase, gamma 2 (testis)							68.0	65.0	66.0					16																	30764756		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30764756A>G	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.434A>G	16.37:g.30764756A>G	ENSP00000455607:p.His145Arg					PHKG2_ENST00000424889.3_Missense_Mutation_p.H145R|PHKG2_ENST00000328273.7_Missense_Mutation_p.H145R	p.H145R	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		6	673	+			145			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.434A>G	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732898	0.89482	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	D;D	0.84516	-1.86;-1.86	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000160	D	0.93468	0.7916	M	0.90198	3.095	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.76575	0.988;0.98	D	0.94666	0.7852	10	0.87932	D	0	-13.2988	14.8095	0.69982	1.0:0.0:0.0:0.0	.	145;145	P15735;P15735-2	PHKG2_HUMAN;.	R	145	ENSP00000329968:H145R;ENSP00000388571:H145R	ENSP00000329968:H145R	H	+	2	0	PHKG2	30672257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.495000	0.81514	2.129000	0.65627	0.533000	0.62120	CAT		0.557	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		18	38	0	0	0	1	0	18	38				
WDFY3	23001	broad.mit.edu	37	4	85708805	85708805	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:85708805G>A	ENST00000295888.4	-	23	4138	c.3731C>T	c.(3730-3732)aCg>aTg	p.T1244M	WDFY3_ENST00000322366.6_Missense_Mutation_p.T1244M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1244					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGCATAGACCGTGCTCACCAC	0.483																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3730-3732)aCg>aTg		WD repeat and FYVE domain containing 3							91.0	77.0	82.0					4																	85708805		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85708805G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3731C>T	4.37:g.85708805G>A	ENSP00000295888:p.Thr1244Met					WDFY3_ENST00000295888.4_Missense_Mutation_p.T1244M	p.T1244M			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	23	4138	-		Hepatocellular(203;0.114)	1244					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3731C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145148	0.77888	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64991	-0.13;-0.12	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);	0.046489	0.85682	D	0.000000	T	0.59622	0.2207	L	0.56769	1.78	0.80722	D	1	P	0.45634	0.863	B	0.36030	0.216	T	0.62029	-0.6940	10	0.39692	T	0.17	.	20.3523	0.98815	0.0:0.0:1.0:0.0	.	1244	Q8IZQ1	WDFY3_HUMAN	M	1244	ENSP00000318466:T1244M;ENSP00000295888:T1244M	ENSP00000295888:T1244M	T	-	2	0	WDFY3	85927829	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.464000	0.97655	2.821000	0.97095	0.484000	0.47621	ACG		0.483	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		15	42	0	0	0	1	0	15	42				
DZANK1	55184	broad.mit.edu	37	20	18440913	18440913	+	Silent	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:18440913G>T	ENST00000358866.6	-	2	169	c.147C>A	c.(145-147)ggC>ggA	p.G49G	DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000262547.5_Silent_p.G49G|DZANK1_ENST00000329494.5_Silent_p.G49G			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	49							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CAGGTTTGCTGCCATCCAGAG	0.333																																						ENST00000262547.5																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						c.(145-147)ggC>ggA		double zinc ribbon and ankyrin repeat domains 1							44.0	40.0	41.0					20																	18440913		1818	4071	5889	SO:0001819	synonymous_variant	55184					intracellular	zinc ion binding	g.chr20:18440913G>T	AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.147C>A	20.37:g.18440913G>T						DZANK1_ENST00000357236.4_5'UTR|DZANK1_ENST00000329494.5_Silent_p.G49G|DZANK1_ENST00000377630.5_5'UTR	p.G49G	NM_001099407.1	NP_001092877.1	Q9NVP4	CT012_HUMAN			3	355	-			0					B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Silent	SNP	ENST00000358866.6	37	c.147C>A	CCDS46582.1																																																																																				0.333	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407		3	8	1	0	0.004672	1	0.00471126	3	8				
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	A	rs141855938		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:130027240G>A	ENST00000373387.4	+	1	436	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423																																						ENST00000373387.4																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(82-84)tcG>tcA		GTPase activating Rap/RanGAP domain-like 3		G		1,4405	2.1+/-5.4	0,1,2202	252.0	239.0	243.0		84	0.9	1.0	9	dbSNP_134	243	0,8600		0,0,4300	no	coding-synonymous	GARNL3	NM_032293.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		28/1014	130027240	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130027240G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.84G>A	9.37:g.130027240G>A						GARNL3_ENST00000314904.5_Silent_p.S28S|GARNL3_ENST00000435213.2_Silent_p.S6S	p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN			1	436	+			28					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	c.84G>A	CCDS6869.2																																																																																				0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		21	109	0	0	0	1	0	21	109				
RAD51C	5889	broad.mit.edu	37	17	56772397	56772397	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:56772397A>T	ENST00000337432.4	+	2	322	c.251A>T	c.(250-252)aAg>aTg	p.K84M	RAD51C_ENST00000421782.2_Missense_Mutation_p.K84M|TEX14_ENST00000389934.3_5'Flank|RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.K84M	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	84	Interaction with RAD51B, RAD51D and XRCC3.|Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACACAAGAAGTGTACAGCA	0.433								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													ENST00000337432.4																			0				upper_aerodigestive_tract(1)	1						c.(250-252)aAg>aTg	Homologous recombination	RAD51 paralog C							102.0	96.0	98.0					17																	56772397		2203	4300	6503	SO:0001583	missense	5889	Hereditary Breast-Ovarian Cancer, non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56772397A>T	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.251A>T	17.37:g.56772397A>T	ENSP00000336701:p.Lys84Met					RAD51C_ENST00000583539.1_Missense_Mutation_p.K84M|RAD51C_ENST00000421782.2_Missense_Mutation_p.K84M|RAD51C_ENST00000487921.1_3'UTR	p.K84M	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN			2	322	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		84					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.251A>T	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076391	0.76415	.	.	ENSG00000108384	ENST00000337432;ENST00000421782;ENST00000425173	T;T;T	0.61627	0.87;1.36;0.09	5.92	4.82	0.62117	.	0.323659	0.39146	N	0.001457	T	0.64080	0.2566	L	0.54323	1.7	0.47584	D	0.999463	P;P;P	0.50943	0.658;0.658;0.94	P;P;P	0.53450	0.617;0.726;0.605	T	0.65878	-0.6061	10	0.66056	D	0.02	-11.4866	12.1298	0.53936	0.8564:0.1436:0.0:0.0	.	75;84;84	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	M	84;84;16	ENSP00000336701:K84M;ENSP00000391450:K84M;ENSP00000407282:K16M	ENSP00000336701:K84M	K	+	2	0	RAD51C	54127396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.565000	0.36386	1.033000	0.39918	0.533000	0.62120	AAG		0.433	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		20	52	0	0	0	1	0	20	52				
MYF5	4617	broad.mit.edu	37	12	81112670	81112670	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:81112670G>A	ENST00000228644.3	+	3	760	c.608G>A	c.(607-609)aGc>aAc	p.S203N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	203					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCTTATCCAGCTTGGATTGC	0.448																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(607-609)aGc>aAc		myogenic factor 5							103.0	104.0	104.0					12																	81112670		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112670G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.608G>A	12.37:g.81112670G>A	ENSP00000228644:p.Ser203Asn						p.S203N	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			3	760	+			203					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.608G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981305	0.93044	.	.	ENSG00000111049	ENST00000228644	D	0.99105	-5.43	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	M	0.90542	3.125	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99564	1.0969	10	0.36615	T	0.2	-2.402	19.3728	0.94495	0.0:0.0:1.0:0.0	.	203	P13349	MYF5_HUMAN	N	203	ENSP00000228644:S203N	ENSP00000228644:S203N	S	+	2	0	MYF5	79636801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.476000	0.90421	2.878000	0.98634	0.650000	0.86243	AGC		0.448	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		10	88	0	0	0	1	0	10	88				
CNKSR1	10256	broad.mit.edu	37	1	26510920	26510920	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:26510920G>A	ENST00000374253.5	+	12	1089	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	CNKSR1_ENST00000531191.1_Silent_p.L85L|CNKSR1_ENST00000361530.6_Silent_p.L343L	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	350	Pro-rich.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGCCCCTGCCCATCCCCC	0.637																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(253-255)ctG>ctA		connector enhancer of kinase suppressor of Ras 1							25.0	27.0	26.0					1																	26510920		2203	4298	6501	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26510920G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1050G>A	1.37:g.26510920G>A						CNKSR1_ENST00000361530.6_Silent_p.L343L|CNKSR1_ENST00000374253.5_Silent_p.L350L	p.L85L			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	11	1262	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	350			CRIC.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.255G>A																																																																																					0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		14	19	0	0	0	1	0	14	19				
GPATCH8	23131	broad.mit.edu	37	17	42475271	42475271	+	Missense_Mutation	SNP	C	C	T	rs200060507		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:42475271C>T	ENST00000591680.1	-	8	4204	c.4174G>A	c.(4174-4176)Ggc>Agc	p.G1392S	GPATCH8_ENST00000434000.1_Missense_Mutation_p.G1314S	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1392							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGGTGAATGCCGATGGCGGCA	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18945	0.0		0.0	False		,,,				2504	0.001					ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3940-3942)Ggc>Agc		G patch domain containing 8							80.0	69.0	73.0					17																	42475271		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475271C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4174G>A	17.37:g.42475271C>T	ENSP00000467556:p.Gly1392Ser					GPATCH8_ENST00000591680.1_Missense_Mutation_p.G1392S	p.G1314S			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	4222	-		Prostate(33;0.0181)	1392					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3940G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592409	0.66219	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15834	2.39	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06041	-1.0849	10	0.16896	T	0.51	-17.3349	17.9789	0.89134	0.0:1.0:0.0:0.0	.	1392	Q9UKJ3	GPTC8_HUMAN	S	1392;1314	ENSP00000395016:G1314S	ENSP00000335486:G1392S	G	-	1	0	GPATCH8	39830797	0.999000	0.42202	1.000000	0.80357	0.735000	0.41995	3.352000	0.52239	2.334000	0.79466	0.305000	0.20034	GGC		0.567	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		11	48	0	0	0	1	0	11	48				
PROX1	5629	broad.mit.edu	37	1	214171118	214171118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:214171118G>A	ENST00000366958.4	+	2	1848	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PROX1_ENST00000261454.4_Missense_Mutation_p.D414N|PROX1_ENST00000435016.1_Missense_Mutation_p.D414N|PROX1_ENST00000498508.2_Missense_Mutation_p.D414N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	414					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTTTGGCGACGTCATCAT	0.562																																						ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1240-1242)Gac>Aac		prospero homeobox 1							102.0	103.0	102.0					1																	214171118		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171118G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1240G>A	1.37:g.214171118G>A	ENSP00000355925:p.Asp414Asn					PROX1_ENST00000435016.1_Missense_Mutation_p.D414N|PROX1_ENST00000261454.4_Missense_Mutation_p.D414N|PROX1_ENST00000498508.2_Missense_Mutation_p.D414N	p.D414N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1848	+			414					A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.1240G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387510	0.42308	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.49432	0.79;0.78;0.79;0.79	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.66157	0.2761	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60616	-0.7228	10	0.08381	T	0.77	-6.3048	19.2456	0.93901	0.0:0.0:1.0:0.0	.	414	Q92786	PROX1_HUMAN	N	414	ENSP00000420283:D414N;ENSP00000355925:D414N;ENSP00000400694:D414N;ENSP00000261454:D414N	ENSP00000261454:D414N	D	+	1	0	PROX1	212237741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.062000	0.89475	2.548000	0.85928	0.591000	0.81541	GAC		0.562	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		54	110	0	0	0	1	0	54	110				
ENPEP	2028	broad.mit.edu	37	4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	rs143343563		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GAAAAACTTTCGACTGCCGGA	0.612																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(274-276)Cga>Tga		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						73.0	78.0	76.0					4																	111397844		2203	4300	6503	SO:0001587	stop_gained	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397844C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.274C>T	4.37:g.111397844C>T	ENSP00000265162:p.Arg92*						p.R92*	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	616	+		Hepatocellular(203;0.217)	92					Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	c.274C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060157	0.97246	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.83	1.79	0.24919	.	0.098719	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6881	0.69065	0.6339:0.3661:0.0:0.0	.	.	.	.	X	92	.	ENSP00000265162:R92X	R	+	1	2	ENPEP	111617293	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	1.799000	0.38824	0.461000	0.27071	-0.397000	0.06425	CGA		0.612	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			15	97	0	0	0	1	0	15	97				
GPR45	11250	broad.mit.edu	37	2	105858983	105858983	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:105858983G>A	ENST00000258456.1	+	1	784	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AACACGGTCCGCAAGAACGCC	0.677																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(667-669)cGc>cAc		G protein-coupled receptor 45							63.0	62.0	62.0					2																	105858983		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858983G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.668G>A	2.37:g.105858983G>A	ENSP00000258456:p.Arg223His						p.R223H	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	784	+			223					Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.668G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012704	0.93346	.	.	ENSG00000135973	ENST00000258456	T	0.42513	0.97	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79050	-0.1962	10	0.72032	D	0.01	-28.1885	18.125	0.89583	0.0:0.0:1.0:0.0	.	223	Q9Y5Y3	GPR45_HUMAN	H	223	ENSP00000258456:R223H	ENSP00000258456:R223H	R	+	2	0	GPR45	105225415	1.000000	0.71417	0.570000	0.28473	0.966000	0.64601	9.704000	0.98716	2.373000	0.80994	0.462000	0.41574	CGC		0.677	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		28	42	0	0	0	1	0	28	42				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	72	0	0	0	1	0	4	72				
LRFN5	145581	broad.mit.edu	37	14	42360709	42360709	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:42360709C>T	ENST00000298119.4	+	4	2831	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	548						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CATCATTATTCTGATGATCCG	0.413										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1642-1644)Ctg>Ttg		leucine rich repeat and fibronectin type III domain containing 5							142.0	137.0	138.0					14																	42360709		2203	4300	6503	SO:0001819	synonymous_variant	145581					integral to membrane		g.chr14:42360709C>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1642C>T	14.37:g.42360709C>T		HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.L548L	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2831	+			548					B3KU78|Q86XL2	Silent	SNP	ENST00000298119.4	37	c.1642C>T	CCDS9678.1																																																																																				0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		35	79	0	0	0	1	0	35	79				
PTCHD1	139411	broad.mit.edu	37	X	23411378	23411378	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chrX:23411378G>A	ENST00000379361.4	+	3	2603	c.1743G>A	c.(1741-1743)ggG>ggA	p.G581G		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	581					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACACCAAGGGGTTTGTGCGGA	0.393																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1741-1743)ggG>ggA		patched domain containing 1							109.0	109.0	109.0					X																	23411378		2203	4300	6503	SO:0001819	synonymous_variant	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23411378G>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1743G>A	X.37:g.23411378G>A							p.G581G	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2603	+			581					B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	c.1743G>A	CCDS35215.2																																																																																				0.393	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		24	69	0	0	0	1	0	24	69				
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	lincRNA	SNP	A	A	T	rs201409729		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403																																						ENST00000423385.1																			0																																																			0							g.chr1:142803783A>T																													1.37:g.142803783A>T														0	1182	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.403	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	6	0	0	0	1	0	3	6				
CNTN4	152330	broad.mit.edu	37	3	2928746	2928746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:2928746C>T	ENST00000397461.1	+	9	1162	c.778C>T	c.(778-780)Cga>Tga	p.R260*	CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R41*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R260*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R260*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	260	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TATTATCTGGCGAAGAGCTGA	0.398																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(778-780)Cga>Tga		contactin 4							68.0	62.0	64.0					3																	2928746		1844	4097	5941	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2928746C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.778C>T	3.37:g.2928746C>T	ENSP00000380602:p.Arg260*					CNTN4_ENST00000418658.1_Nonsense_Mutation_p.R260*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.R41*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.R260*	p.R260*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	9	1162	+		Ovarian(110;0.156)	260			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.778C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	39	7.678318	0.98428	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	.	.	.	5.73	1.03	0.20045	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3782	0.83418	0.8297:0.1703:0.0:0.0	.	.	.	.	X	260;260;260;41	.	ENSP00000351267:R41X	R	+	1	2	CNTN4	2903746	0.979000	0.34478	1.000000	0.80357	0.963000	0.63663	0.276000	0.18716	0.229000	0.21039	-0.188000	0.12872	CGA		0.398	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			3	9	0	0	0	1	0	3	9				
SPATA31D5P	347127	broad.mit.edu	37	9	84534433	84534433	+	RNA	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:84534433C>T	ENST00000527857.1	+	0	4455					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CAGGGCTATCCCCGCAACTAC	0.502																																						ENST00000527857.1																			0																																																			347127							g.chr9:84534433C>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84534433C>T								NR_026851.1						0	4455	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.502	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		7	26	0	0	0	1	0	7	26				
COL6A6	131873	broad.mit.edu	37	3	130287049	130287049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:130287049G>A	ENST00000358511.6	+	5	2033	c.2002G>A	c.(2002-2004)Gac>Aac	p.D668N	COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	668	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D668N(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCAGTTCAGCGACATCAATAA	0.423																																						ENST00000358511.6																			1	Substitution - Missense(1)	p.D668N(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2002-2004)Gac>Aac		collagen, type VI, alpha 6							178.0	173.0	175.0					3																	130287049		1922	4127	6049	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287049G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2002G>A	3.37:g.130287049G>A	ENSP00000351310:p.Asp668Asn					COL6A6_ENST00000453409.2_Missense_Mutation_p.D668N	p.D668N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			5	2033	+			668			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2002G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	4.358	0.066002	0.08388	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.79749	-1.3;-1.3	5.53	-3.41	0.04839	von Willebrand factor, type A (3);	0.427722	0.21922	N	0.067159	T	0.71307	0.3324	L	0.50993	1.605	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.58335	-0.7654	10	0.38643	T	0.18	.	13.4535	0.61184	0.0599:0.6662:0.1805:0.0934	.	668	A6NMZ7	CO6A6_HUMAN	N	668	ENSP00000351310:D668N;ENSP00000399236:D668N	ENSP00000351310:D668N	D	+	1	0	COL6A6	131769739	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.129000	0.10515	-0.601000	0.05783	0.655000	0.94253	GAC		0.423	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		16	133	0	0	0	1	0	16	133				
PADI3	51702	broad.mit.edu	37	1	17603149	17603149	+	Silent	SNP	C	C	G	rs201961308		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:17603149C>G	ENST00000375460.3	+	12	1483	c.1443C>G	c.(1441-1443)ccC>ccG	p.P481P	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	481					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.P481P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCCCTGCCCCCGATGGGAAGG	0.597																																						ENST00000375460.3																			1	Substitution - coding silent(1)	p.P481P(1)	lung(1)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1441-1443)ccC>ccG		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						127.0	110.0	116.0					1																	17603149		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603149C>G	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1443C>G	1.37:g.17603149C>G							p.P481P	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1483	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	481					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.1443C>G	CCDS179.1																																																																																				0.597	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			15	116	0	0	0	1	0	15	116				
HIST2H2AB	317772	broad.mit.edu	37	1	149859278	149859278	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:149859278A>G	ENST00000331128.3	-	1	188	c.189T>C	c.(187-189)atT>atC	p.I63I	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	63						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I63I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCAGCTCCAGAATTTCCGCGG	0.637																																						ENST00000331128.3																			1	Substitution - coding silent(1)	p.I63I(1)	kidney(1)	breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(187-189)atT>atC		histone cluster 2, H2ab							54.0	56.0	56.0					1																	149859278		2203	4300	6503	SO:0001819	synonymous_variant	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859278A>G	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.189T>C	1.37:g.149859278A>G							p.I63I	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	188	-	Breast(34;0.0124)|all_hematologic(923;0.127)		63						Silent	SNP	ENST00000331128.3	37	c.189T>C	CCDS938.1																																																																																				0.637	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		7	103	0	0	0	1	0	7	103				
SCARF1	8578	broad.mit.edu	37	17	1538598	1538598	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:1538598C>T	ENST00000263071.4	-	11	1996	c.1947G>A	c.(1945-1947)gcG>gcA	p.A649A	SCARF1_ENST00000348987.3_Silent_p.A563A|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	649	Gly-rich.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GACTGGCAGCCGCCGGAAAGG	0.701																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1945-1947)gcG>gcA		scavenger receptor class F, member 1							13.0	16.0	15.0					17																	1538598		2111	4143	6254	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1538598C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1947G>A	17.37:g.1538598C>T						SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Silent_p.A563A	p.A649A	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	11	1996	-			649			Gly-rich.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1947G>A	CCDS11007.1																																																																																				0.701	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		6	48	0	0	0	1	0	6	48				
KCNG4	93107	broad.mit.edu	37	16	84271067	84271067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:84271067C>T	ENST00000308251.4	-	2	93	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	KCNG4_ENST00000568181.1_Missense_Mutation_p.G9S	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	9					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGATGCAGGCCCCCGTCTCTG	0.582																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(25-27)Ggc>Agc		potassium voltage-gated channel, subfamily G, member 4							48.0	52.0	51.0					16																	84271067		2197	4295	6492	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84271067C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.25G>A	16.37:g.84271067C>T	ENSP00000312129:p.Gly9Ser					KCNG4_ENST00000308251.4_Missense_Mutation_p.G9S	p.G9S			Q8TDN1	KCNG4_HUMAN			2	145	-			9					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.25G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996713	0.35226	.	.	ENSG00000168418	ENST00000308251	D	0.96200	-3.94	4.56	1.53	0.23141	.	7.451750	0.00166	N	0.000000	D	0.90195	0.6935	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.005;0.009	B;B	0.10450	0.002;0.005	T	0.80487	-0.1361	10	0.22109	T	0.4	.	8.4179	0.32683	0.0:0.7407:0.0:0.2593	.	9;9	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	S	9	ENSP00000312129:G9S	ENSP00000312129:G9S	G	-	1	0	KCNG4	82828568	0.002000	0.14202	0.048000	0.18961	0.079000	0.17450	0.504000	0.22626	0.390000	0.25115	0.549000	0.68633	GGC		0.582	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		34	60	0	0	0	1	0	34	60				
P2RX3	5024	broad.mit.edu	37	11	57114618	57114618	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:57114618A>G	ENST00000263314.2	+	3	318	c.284A>G	c.(283-285)aAg>aGg	p.K95R		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	95					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						ATCATCACCAAGATGATTGTT	0.483																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(283-285)aAg>aGg		purinergic receptor P2X, ligand-gated ion channel, 3							101.0	84.0	90.0					11																	57114618		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114618A>G	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.284A>G	11.37:g.57114618A>G	ENSP00000263314:p.Lys95Arg						p.K95R	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			3	318	+			95					Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.284A>G	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984112	0.53827	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04603	3.59	5.09	5.09	0.68999	.	0.048855	0.85682	D	0.000000	T	0.03827	0.0108	N	0.20574	0.59	0.53005	D	0.999967	P	0.42785	0.79	B	0.37239	0.244	T	0.57136	-0.7863	10	0.37606	T	0.19	-28.4348	12.7046	0.57054	1.0:0.0:0.0:0.0	.	95	P56373	P2RX3_HUMAN	R	95	ENSP00000263314:K95R	ENSP00000263314:K95R	K	+	2	0	P2RX3	56871194	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.489000	0.81451	2.044000	0.60594	0.459000	0.35465	AAG		0.483	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		5	18	0	0	0	1	0	5	18				
RIPK4	54101	broad.mit.edu	37	21	43164073	43164073	+	Silent	SNP	C	C	T	rs535635195		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:43164073C>T	ENST00000352483.2	-	8	1372	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	RIPK4_ENST00000332512.3_Silent_p.S388S|RIPK4_ENST00000542057.1_Silent_p.S325S|RIPK4_ENST00000544709.1_Silent_p.S325S|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	436					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAAGGACAGCGACAGTGATC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18198	0.0		0.0	False		,,,				2504	0.001					ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1306-1308)tcG>tcA		receptor-interacting serine-threonine kinase 4							79.0	70.0	73.0					21																	43164073		2203	4300	6503	SO:0001819	synonymous_variant	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43164073C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1308G>A	21.37:g.43164073C>T						RIPK4_ENST00000332512.3_Silent_p.S388S|RIPK4_ENST00000542057.1_Silent_p.S325S|RIPK4_ENST00000544709.1_Silent_p.S325S	p.S436S			Q96T11	Q96T11_HUMAN			8	1372	-			388					Q96KH0	Silent	SNP	ENST00000352483.2	37	c.1308G>A																																																																																					0.627	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		21	56	0	0	0	1	0	21	56				
SLIT2	9353	broad.mit.edu	37	4	20493433	20493433	+	Silent	SNP	C	C	T	rs557268494		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:20493433C>T	ENST00000504154.1	+	9	1077	c.825C>T	c.(823-825)gcC>gcT	p.A275A	SLIT2_ENST00000503837.1_Silent_p.A279A|SLIT2_ENST00000503823.1_Silent_p.A275A|SLIT2_ENST00000273739.5_Silent_p.A279A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	275	LRRNT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTGCCCTGCCGCCTGTACCT	0.418																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(823-825)gcC>gcT		slit homolog 2 (Drosophila)							142.0	140.0	141.0					4																	20493433		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20493433C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.825C>T	4.37:g.20493433C>T						SLIT2_ENST00000503837.1_Silent_p.A279A|SLIT2_ENST00000273739.5_Silent_p.A279A|SLIT2_ENST00000503823.1_Silent_p.A275A	p.A275A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			9	1077	+			275			LRRNT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.825C>T	CCDS3426.1																																																																																				0.418	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			21	55	0	0	0	1	0	21	55				
SYNE1	23345	broad.mit.edu	37	6	152694195	152694195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:152694195G>A	ENST00000367255.5	-	59	10085	c.9484C>T	c.(9484-9486)Cac>Tac	p.H3162Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.H3169Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.H3201Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3162Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3169Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3162					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTTTGGTGGAGATTTGAA	0.388										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9484-9486)Cac>Tac		spectrin repeat containing, nuclear envelope 1							194.0	205.0	201.0					6																	152694195		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152694195G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9484C>T	6.37:g.152694195G>A	ENSP00000356224:p.His3162Tyr	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.H3201Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3169Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3162Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3169Y	p.H3162Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	59	10085	-		Ovarian(120;0.0955)	3162					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9484C>T	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.026543|4.026543	0.75390|0.75390	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594|ENST00000469439	T;T;T;T;T|.	0.35048|.	1.33;1.33;1.33;1.33;1.33|.	5.96|5.96	4.92|4.92	0.64577|0.64577	.|.	0.175866|.	0.39687|.	N|.	0.001298|.	T|T	0.65375|0.65375	0.2685|0.2685	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	P;P;P;D|.	0.54772|.	0.907;0.949;0.907;0.968|.	P;P;P;P|.	0.51974|.	0.529;0.686;0.529;0.628|.	T|T	0.62544|0.62544	-0.6832|-0.6832	10|5	0.59425|.	D|.	0.04|.	.|.	16.0601|16.0601	0.80834|0.80834	0.0742:0.0:0.9258:0.0|0.0742:0.0:0.9258:0.0	.|.	3162;279;3162;3169|.	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4|.	SYNE1_HUMAN;.;.;.|.	Y|L	3162;3169;3162;3169;3201|26	ENSP00000356224:H3162Y;ENSP00000396024:H3169Y;ENSP00000265368:H3162Y;ENSP00000390975:H3169Y;ENSP00000341887:H3201Y|.	ENSP00000265368:H3162Y|.	H|P	-|-	1|2	0|0	SYNE1|SYNE1	152735888|152735888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	7.429000|7.429000	0.80309|0.80309	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		41	118	0	0	0	1	0	41	118				
FRYL	285527	broad.mit.edu	37	4	48523169	48523169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:48523169C>T	ENST00000503238.1	-	52	7584	c.7585G>A	c.(7585-7587)Gaa>Aaa	p.E2529K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.E2529K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2529K|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTGGAATCTTCAGACTGGAGA	0.423																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7585-7587)Gaa>Aaa		FRY-like							111.0	107.0	108.0					4																	48523169		1892	4133	6025	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523169C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7585G>A	4.37:g.48523169C>T	ENSP00000426064:p.Glu2529Lys					FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.E2529K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2529K|FRYL_ENST00000264319.7_5'UTR	p.E2529K			O94915	FRYL_HUMAN			55	8189	-			2529					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7585G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	c	14.89	2.671832	0.47781	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.21543	2.0;2.0;2.0	5.79	4.96	0.65561	.	0.419183	0.26286	N	0.025254	T	0.10380	0.0254	N	0.08118	0	0.80722	D	1	B;B;B	0.13594	0.0;0.005;0.008	B;B;B	0.25405	0.001;0.021;0.06	T	0.08472	-1.0720	10	0.06236	T	0.91	.	12.0001	0.53226	0.0:0.1318:0.7317:0.1364	.	1359;2529;2529	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	K	2529	ENSP00000426064:E2529K;ENSP00000351113:E2529K;ENSP00000441114:E2529K	ENSP00000351113:E2529K	E	-	1	0	FRYL	48217926	1.000000	0.71417	0.372000	0.25991	0.001000	0.01503	6.179000	0.71974	1.469000	0.48083	-0.219000	0.12488	GAA		0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			8	60	0	0	0	1	0	8	60				
MCM4	4173	broad.mit.edu	37	8	48888359	48888359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:48888359C>T	ENST00000262105.2	+	15	2659	c.2450C>T	c.(2449-2451)gCt>gTt	p.A817V	MCM4_ENST00000523944.1_Missense_Mutation_p.A817V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	817					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AAAACACCAGCTCTAAAATAC	0.338																																						ENST00000262105.2																			0				biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44						c.(2449-2451)gCt>gTt		minichromosome maintenance complex component 4							68.0	69.0	68.0					8																	48888359		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48888359C>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.2450C>T	8.37:g.48888359C>T	ENSP00000262105:p.Ala817Val					MCM4_ENST00000523944.1_Missense_Mutation_p.A817V	p.A817V	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN			15	2659	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	817					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.2450C>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192343	0.78902	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000518382;ENST00000524276	T;T	0.02916	4.11;4.11	6.03	6.03	0.97812	.	0.048162	0.85682	D	0.000000	T	0.04815	0.0130	L	0.40543	1.245	0.58432	D	0.999999	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.49551	-0.8928	10	0.40728	T	0.16	-25.2734	20.5753	0.99366	0.0:1.0:0.0:0.0	.	817;817	B3KMX0;P33991	.;MCM4_HUMAN	V	817;817;804;777;92;101	ENSP00000430194:A817V;ENSP00000262105:A817V	ENSP00000262105:A817V	A	+	2	0	MCM4	49050912	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.484000	0.66844	2.868000	0.98415	0.557000	0.71058	GCT		0.338	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		12	26	0	0	0	1	0	12	26				
TNRC18	84629	broad.mit.edu	37	7	5417607	5417607	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:5417607C>T	ENST00000430969.1	-	6	2549	c.2201G>A	c.(2200-2202)cGg>cAg	p.R734Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.R734Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	734							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)		CCGTTCCTCCCGGTGTCTGGC	0.682																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(2200-2202)cGg>cAg		trinucleotide repeat containing 18																																				SO:0001583	missense	84629						DNA binding	g.chr7:5417607C>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.2201G>A	7.37:g.5417607C>T	ENSP00000395538:p.Arg734Gln					TNRC18_ENST00000430969.1_Missense_Mutation_p.R734Q	p.R734Q			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	6	2549	-		Ovarian(82;0.142)	734					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.2201G>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827221	0.32329	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.12984	2.63;2.63	4.38	4.38	0.52667	.	.	.	.	.	T	0.27866	0.0686	L	0.55481	1.735	0.27279	N	0.958141	D	0.69078	0.997	P	0.56474	0.799	T	0.05920	-1.0856	9	0.36615	T	0.2	.	16.8975	0.86104	0.0:1.0:0.0:0.0	.	734	O15417	TNC18_HUMAN	Q	734;734;136	ENSP00000382452:R734Q;ENSP00000395538:R734Q	ENSP00000382452:R734Q	R	-	2	0	TNRC18	5384133	0.985000	0.35326	1.000000	0.80357	0.372000	0.29890	3.035000	0.49759	2.129000	0.65627	0.561000	0.74099	CGG		0.682	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				21	50	0	0	0	1	0	21	50				
APBA2	321	broad.mit.edu	37	15	29398898	29398898	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:29398898C>A	ENST00000558402.1	+	13	2392	c.1793C>A	c.(1792-1794)gCc>gAc	p.A598D	APBA2_ENST00000558330.1_Missense_Mutation_p.A586D|APBA2_ENST00000411764.1_Missense_Mutation_p.A586D|APBA2_ENST00000561069.1_Missense_Mutation_p.A598D|APBA2_ENST00000558259.1_Missense_Mutation_p.A598D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	598	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTGATCCTGGCCAACATGATG	0.652																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(1792-1794)gCc>gAc		amyloid beta (A4) precursor protein-binding, family A, member 2							50.0	50.0	50.0					15																	29398898		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29398898C>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1793C>A	15.37:g.29398898C>A	ENSP00000453293:p.Ala598Asp					APBA2_ENST00000558259.1_Missense_Mutation_p.A598D|APBA2_ENST00000558330.1_Missense_Mutation_p.A586D|APBA2_ENST00000411764.1_Missense_Mutation_p.A586D|APBA2_ENST00000561069.1_Missense_Mutation_p.A598D	p.A598D			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	13	2392	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	598			PDZ 1.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1793C>A	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908675	0.92107	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.28666	1.6	4.19	4.19	0.49359	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.954;1.0;1.0	T	0.74494	-0.3647	10	0.87932	D	0	.	16.0307	0.80574	0.0:1.0:0.0:0.0	.	586;586;598	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	D	586;598	ENSP00000409312:A586D	ENSP00000219865:A598D	A	+	2	0	APBA2	27186190	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.420000	0.80191	2.320000	0.78422	0.462000	0.41574	GCC		0.652	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		16	77	1	0	6.31663e-08	1	6.59126e-08	16	77				
LRRC49	54839	broad.mit.edu	37	15	71276586	71276586	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr15:71276586G>C	ENST00000260382.5	+	11	1419	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E377Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E93Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E392Q|LRRC49_ENST00000560158.2_Missense_Mutation_p.E75Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.E343Q	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	387						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGCATTCCCAGAGGAAACAGG	0.368																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1159-1161)Gag>Cag		leucine rich repeat containing 49							94.0	87.0	89.0					15																	71276586		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71276586G>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1159G>C	15.37:g.71276586G>C	ENSP00000260382:p.Glu387Gln					LRRC49_ENST00000560158.2_Missense_Mutation_p.E75Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E93Q|LRRC49_ENST00000544974.2_Missense_Mutation_p.E377Q|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000443425.2_Missense_Mutation_p.E343Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E392Q	p.E387Q	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			11	1419	+			387					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1159G>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704576	0.68615	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.24350	1.86;1.86;1.86	4.48	4.48	0.54585	.	0.059287	0.64402	D	0.000003	T	0.42404	0.1201	L	0.48362	1.52	0.39559	D	0.969106	P;D;D;D;D	0.89917	0.546;0.997;0.979;0.995;1.0	B;D;P;P;D	0.71870	0.147;0.933;0.798;0.78;0.975	T	0.23297	-1.0192	10	0.41790	T	0.15	-17.9087	15.0266	0.71674	0.0:0.0:1.0:0.0	.	392;359;343;387;377	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	Q	377;387;343;359	ENSP00000439600:E377Q;ENSP00000260382:E387Q;ENSP00000414065:E343Q	ENSP00000260382:E387Q	E	+	1	0	LRRC49	69063640	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	5.127000	0.64727	2.481000	0.83766	0.591000	0.81541	GAG		0.368	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		4	33	0	0	0	1	0	4	33				
PLXNB2	23654	broad.mit.edu	37	22	50728802	50728802	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:50728802G>A	ENST00000449103.1	-	3	352	c.212C>T	c.(211-213)cCg>cTg	p.P71L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P71L			O15031	PLXB2_HUMAN	plexin B2	71	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCAGGGCCGGGCCCGTGGC	0.642																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(211-213)cCg>cTg		plexin B2							37.0	43.0	41.0					22																	50728802		2081	4213	6294	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728802G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.212C>T	22.37:g.50728802G>A	ENSP00000409171:p.Pro71Leu					PLXNB2_ENST00000359337.4_Missense_Mutation_p.P71L	p.P71L			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	352	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	71			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.212C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946958	0.73672	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.08	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.50627	D	0.000120	T	0.62208	0.2409	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72786	-0.4188	10	0.87932	D	0	.	16.4766	0.84134	0.0:0.0:1.0:0.0	.	71	O15031	PLXB2_HUMAN	L	71	ENSP00000409171:P71L;ENSP00000352288:P71L;ENSP00000392620:P71L;ENSP00000387470:P71L	ENSP00000352288:P71L	P	-	2	0	PLXNB2	49070929	1.000000	0.71417	0.961000	0.40146	0.442000	0.32017	9.213000	0.95133	2.110000	0.64415	0.561000	0.74099	CCG		0.642	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		10	48	0	0	0	1	0	10	48				
ALDH3A1	218	broad.mit.edu	37	17	19645912	19645912	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:19645912C>T	ENST00000457500.2	-	3	755	c.426G>A	c.(424-426)ctG>ctA	p.L142L	ALDH3A1_ENST00000494157.2_Silent_p.L69L|ALDH3A1_ENST00000444455.1_Silent_p.L142L|ALDH3A1_ENST00000225740.6_Silent_p.L142L|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Silent_p.L142L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	142					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGTTCTCACTCAGCTCCGAGG	0.602																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(424-426)ctG>ctA		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						152.0	115.0	127.0					17																	19645912		2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19645912C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.426G>A	17.37:g.19645912C>T						ALDH3A1_ENST00000225740.6_Silent_p.L142L|ALDH3A1_ENST00000395555.3_Silent_p.L142L|ALDH3A1_ENST00000444455.1_Silent_p.L142L|ALDH3A1_ENST00000494157.2_Silent_p.L69L	p.L142L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	3	755	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		142					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.426G>A	CCDS11212.1																																																																																				0.602	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		14	71	0	0	0	1	0	14	71				
ATRNL1	26033	broad.mit.edu	37	10	117061462	117061462	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr10:117061462C>T	ENST00000355044.3	+	17	2853	c.2727C>T	c.(2725-2727)tgC>tgT	p.C909C	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_Silent_p.C6C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	909	PSI 4.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTATGTGGTGCAGCAGTACGA	0.453																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(2725-2727)tgC>tgT		attractin-like 1							284.0	205.0	232.0					10																	117061462		2203	4300	6503	SO:0001819	synonymous_variant	26033					integral to membrane	sugar binding	g.chr10:117061462C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2727C>T	10.37:g.117061462C>T						ATRNL1_ENST00000423111.2_Silent_p.C6C	p.C909C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	17	2853	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	909			PSI 4.		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	c.2727C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	9.711	1.157006	0.21454	.	.	ENSG00000107518	ENST00000526373	.	.	.	5.64	0.667	0.17907	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.2559	10.266	0.43455	0.0:0.6087:0.0:0.3913	.	.	.	.	X	39	.	.	Q	+	1	0	ATRNL1	117051452	0.010000	0.17322	1.000000	0.80357	0.978000	0.69477	-0.918000	0.04021	0.342000	0.23796	-0.216000	0.12614	CAG		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		14	53	0	0	0	1	0	14	53				
ZNF831	128611	broad.mit.edu	37	20	57768620	57768620	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:57768620A>G	ENST00000371030.2	+	1	2546	c.2546A>G	c.(2545-2547)cAg>cGg	p.Q849R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	849							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCCCACGCAGCCTGCCTCT	0.637																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(2545-2547)cAg>cGg		zinc finger protein 831							27.0	35.0	32.0					20																	57768620		1998	4189	6187	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768620A>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2546A>G	20.37:g.57768620A>G	ENSP00000360069:p.Gln849Arg						p.Q849R	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	2546	+	all_lung(29;0.0085)		849					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.2546A>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745807	0.49151	.	.	ENSG00000124203	ENST00000371030	T	0.05319	3.46	4.91	2.58	0.30949	.	0.864090	0.10047	N	0.722707	T	0.05777	0.0151	L	0.32530	0.975	0.09310	N	1	B	0.17852	0.024	B	0.12837	0.008	T	0.40232	-0.9574	10	0.46703	T	0.11	-3.562	6.1215	0.20155	0.7797:0.0:0.2203:0.0	.	849	Q5JPB2	ZN831_HUMAN	R	849	ENSP00000360069:Q849R	ENSP00000360069:Q849R	Q	+	2	0	ZNF831	57202015	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	2.007000	0.40883	0.299000	0.22661	0.533000	0.62120	CAG		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		28	61	0	0	0	1	0	28	61				
DPP9	91039	broad.mit.edu	37	19	4694749	4694749	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:4694749G>A	ENST00000598800.1	-	14	1858	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	DPP9_ENST00000594671.1_Silent_p.F451F|DPP9_ENST00000597849.1_Silent_p.F480F|DPP9_ENST00000262960.9_Silent_p.F480F			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	451						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		ACAAATGGCAGAAGCCGGTCT	0.547																																						ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1438-1440)ttC>ttT		dipeptidyl-peptidase 9							41.0	43.0	43.0					19																	4694749		1916	4118	6034	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4694749G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1353C>T	19.37:g.4694749G>A						DPP9_ENST00000594671.1_Silent_p.F451F|DPP9_ENST00000598800.1_Silent_p.F451F|DPP9_ENST00000597849.1_Silent_p.F480F	p.F480F	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	13	1717	-		Hepatocellular(1079;0.137)	451					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.1440C>T																																																																																					0.547	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			6	21	0	0	0	1	0	6	21				
DNAH5	1767	broad.mit.edu	37	5	13717547	13717547	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr5:13717547A>G	ENST00000265104.4	-	73	12686	c.12582T>C	c.(12580-12582)acT>acC	p.T4194T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4194	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTCCTGGACAGTGGAGTGCA	0.557									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12580-12582)acT>acC		dynein, axonemal, heavy chain 5							67.0	61.0	63.0					5																	13717547		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13717547A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12582T>C	5.37:g.13717547A>G							p.T4194T	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			73	12686	-	Lung NSC(4;0.00476)		4194			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.12582T>C	CCDS3882.1																																																																																				0.557	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	42	0	0	0	1	0	6	42				
ZDHHC14	79683	broad.mit.edu	37	6	158066812	158066812	+	Missense_Mutation	SNP	G	G	A	rs537154606		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:158066812G>A	ENST00000359775.5	+	6	1685	c.796G>A	c.(796-798)Gtt>Att	p.V266I	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V266I|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	266					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CTGGTCCATCGTTGGCCTCTC	0.557																																						ENST00000359775.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.(796-798)Gtt>Att		zinc finger, DHHC-type containing 14							188.0	139.0	155.0					6																	158066812		2203	4296	6499	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158066812G>A	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.796G>A	6.37:g.158066812G>A	ENSP00000352821:p.Val266Ile					ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V266I|ZDHHC14_ENST00000341375.8_3'UTR	p.V266I			Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	6	1685	+		Breast(66;0.00586)|Ovarian(120;0.123)	266					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.796G>A	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067268	0.20067	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.23950	1.88;1.88	5.23	4.09	0.47781	.	0.062065	0.64402	N	0.000005	T	0.04318	0.0119	N	0.13098	0.295	0.54753	D	0.999984	P;P	0.47191	0.891;0.55	B;B	0.37508	0.252;0.074	T	0.11817	-1.0572	10	0.06757	T	0.87	-10.3265	10.4357	0.44435	0.1236:0.0:0.8764:0.0	.	266;266	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	I	266;266;270	ENSP00000352821:V266I;ENSP00000410713:V266I	ENSP00000352821:V266I	V	+	1	0	ZDHHC14	157986800	1.000000	0.71417	0.927000	0.36925	0.997000	0.91878	7.084000	0.76866	1.979000	0.57680	0.459000	0.35465	GTT		0.557	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	NM_153746		5	35	0	0	0	1	0	5	35				
KCNJ4	3761	broad.mit.edu	37	22	38822960	38822960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr22:38822960G>A	ENST00000303592.3	-	2	1436	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	393	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGCGGCCGCCGCAGCTGCCTC	0.697																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1177-1179)gCg>gTg		potassium inwardly-rectifying channel, subfamily J, member 4							31.0	41.0	38.0					22																	38822960		2190	4287	6477	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38822960G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1178C>T	22.37:g.38822960G>A	ENSP00000306497:p.Ala393Val					RP3-434P1.6_ENST00000433230.1_RNA	p.A393V	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	1436	-	Melanoma(58;0.0286)		393			Poly-Ala.		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.1178C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779548	0.02929	.	.	ENSG00000168135	ENST00000303592	D	0.89343	-2.5	3.95	2.81	0.32909	.	1.324520	0.05453	U	0.549720	T	0.75788	0.3897	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64232	-0.6456	10	0.30078	T	0.28	.	2.8936	0.05684	0.1715:0.0:0.5548:0.2737	.	393	P48050	IRK4_HUMAN	V	393	ENSP00000306497:A393V	ENSP00000306497:A393V	A	-	2	0	KCNJ4	37152906	0.713000	0.27926	0.292000	0.24919	0.056000	0.15407	1.944000	0.40263	2.142000	0.66516	0.456000	0.33151	GCG		0.697	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		47	83	0	0	0	1	0	47	83				
STX1A	6804	broad.mit.edu	37	7	73123401	73123401	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:73123401G>A	ENST00000222812.3	-	2	108	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	STX1A_ENST00000395154.3_Missense_Mutation_p.R28C|STX1A_ENST00000395156.3_Missense_Mutation_p.R28C|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_Missense_Mutation_p.R28C	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	28					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TCCATGAAGCGGTCTCGGTCC	0.592																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(82-84)Cgc>Tgc		syntaxin 1A (brain)							214.0	173.0	187.0					7																	73123401		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123401G>A		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.82C>T	7.37:g.73123401G>A	ENSP00000222812:p.Arg28Cys					STX1A_ENST00000395154.3_Missense_Mutation_p.R28C|STX1A_ENST00000395155.3_Missense_Mutation_p.R28C|STX1A_ENST00000395156.3_Missense_Mutation_p.R28C	p.R28C	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	108	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	28					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.82C>T	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057217	0.76074	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.87	3.02	0.34903	t-SNARE (1);Syntaxin, N-terminal (1);	0.240715	0.42548	D	0.000692	T	0.40839	0.1133	L	0.34521	1.04	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	B;P;P	0.48304	0.391;0.573;0.498	T	0.21314	-1.0249	10	0.56958	D	0.05	-11.7081	9.3344	0.38040	0.0:0.1686:0.6739:0.1575	.	28;28;28	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	C	28	ENSP00000222812:R28C;ENSP00000378585:R28C;ENSP00000378583:R28C;ENSP00000378584:R28C	ENSP00000222812:R28C	R	-	1	0	STX1A	72761337	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.254000	0.65457	0.445000	0.26639	0.561000	0.74099	CGC		0.592	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		51	100	0	0	0	1	0	51	100				
FRAS1	80144	broad.mit.edu	37	4	79328996	79328996	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:79328996G>C	ENST00000325942.6	+	31	4748		c.e31+1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCGCTTCGAGGTACCCTCTGC	0.483																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.e31+1		Fraser syndrome 1							47.0	53.0	51.0					4																	79328996		2044	4194	6238	SO:0001630	splice_region_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79328996G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4308+1G>C	4.37:g.79328996G>C						FRAS1_ENST00000325942.6_Splice_Site		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			31	4748	+								A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000325942.6	37		CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642772	0.87859	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7528	0.91821	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79548020	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	8.884000	0.92432	2.671000	0.90904	0.585000	0.79938	.		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		Intron	5	18	0	0	0	1	0	5	18				
ZNF697	90874	broad.mit.edu	37	1	120168620	120168620	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:120168620T>G	ENST00000421812.2	-	2	223	c.104A>C	c.(103-105)gAa>gCa	p.E35A		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	35					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTCTCTTTCTTCTGGGTCCCC	0.512																																						ENST00000421812.2																			0				ovary(2)	2						c.(103-105)gAa>gCa		zinc finger protein 697							173.0	175.0	174.0					1																	120168620		1921	4116	6037	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120168620T>G	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.104A>C	1.37:g.120168620T>G	ENSP00000396857:p.Glu35Ala						p.E35A	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	2	223	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	35					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.104A>C	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.330600	0.41297	.	.	ENSG00000143067	ENST00000421812	T	0.09723	2.95	4.2	4.2	0.49525	.	.	.	.	.	T	0.01835	0.0058	L	0.27053	0.805	0.27005	N	0.964818	B	0.10296	0.003	B	0.09377	0.004	T	0.44314	-0.9336	9	0.05833	T	0.94	.	8.0203	0.30406	0.0:0.0:0.207:0.793	.	35	Q5TEC3	ZN697_HUMAN	A	35	ENSP00000396857:E35A	ENSP00000396857:E35A	E	-	2	0	ZNF697	119970143	0.938000	0.31826	0.959000	0.39883	0.874000	0.50279	0.448000	0.21726	2.137000	0.66172	0.459000	0.35465	GAA		0.512	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		39	84	0	0	0	1	0	39	84				
KIAA0232	9778	broad.mit.edu	37	4	6864427	6864427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:6864427C>G	ENST00000307659.5	+	7	2773	c.2318C>G	c.(2317-2319)aCt>aGt	p.T773S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.T773S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	773							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACAGTAGAACTTTAGGTGAG	0.308																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(2317-2319)aCt>aGt		KIAA0232							41.0	39.0	40.0					4																	6864427		1810	4069	5879	SO:0001583	missense	9778						ATP binding	g.chr4:6864427C>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.2318C>G	4.37:g.6864427C>G	ENSP00000303928:p.Thr773Ser					KIAA0232_ENST00000425103.1_Missense_Mutation_p.T773S	p.T773S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	2773	+			773					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.2318C>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	4.067	0.010187	0.07912	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.63	3.84	0.44239	.	0.194070	0.53938	N	0.000041	T	0.47985	0.1475	M	0.62723	1.935	0.31080	N	0.712056	B	0.02656	0.0	B	0.04013	0.001	T	0.49303	-0.8954	9	0.28530	T	0.3	-7.8905	11.7641	0.51920	0.128:0.5001:0.3719:0.0	.	773	Q92628	K0232_HUMAN	S	773	.	ENSP00000303928:T773S	T	+	2	0	KIAA0232	6915328	0.996000	0.38824	0.998000	0.56505	0.932000	0.56968	1.931000	0.40134	0.688000	0.31529	-0.291000	0.09656	ACT		0.308	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		9	23	0	0	0	1	0	9	23				
GBAS	2631	broad.mit.edu	37	7	56045863	56045863	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr7:56045863T>C	ENST00000322090.3	+	2	166	c.137T>C	c.(136-138)cTa>cCa	p.L46P	GBAS_ENST00000446778.1_Missense_Mutation_p.L46P|GBAS_ENST00000487370.1_3'UTR	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	46					ATP biosynthetic process (GO:0006754)|negative regulation of ATP citrate synthase activity (GO:2000984)|oxidative phosphorylation (GO:0006119)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GACAGCTGGCTAAAATCCTTA	0.403																																						ENST00000322090.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(136-138)cTa>cCa		glioblastoma amplified sequence							143.0	133.0	137.0					7																	56045863		2203	4300	6503	SO:0001583	missense	2631					integral to plasma membrane|membrane fraction|mitochondrion	protein binding	g.chr7:56045863T>C	AF029786	CCDS5521.1, CCDS56488.1	7p12	2014-03-11			ENSG00000146729	ENSG00000146729			4179	protein-coding gene	gene with protein product		603004				9615231, 9661659, 20888800	Standard	NM_001483		Approved	NIPSNAP2	uc003tre.2	O75323	OTTHUMG00000022932	ENST00000322090.3:c.137T>C	7.37:g.56045863T>C	ENSP00000313050:p.Leu46Pro					GBAS_ENST00000446778.1_Missense_Mutation_p.L46P|GBAS_ENST00000487370.1_3'UTR	p.L46P	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	166	+	Breast(14;0.214)		46					C9IYJ3|O43801|Q53X96	Missense_Mutation	SNP	ENST00000322090.3	37	c.137T>C	CCDS5521.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627990	0.87560	.	.	ENSG00000146729	ENST00000322090;ENST00000446778	T;T	0.73575	-0.39;-0.76	5.8	5.8	0.92144	.	0.064014	0.64402	D	0.000005	D	0.84469	0.5479	M	0.75777	2.31	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62491	0.862;0.903	D	0.86309	0.1685	10	0.72032	D	0.01	0.0092	15.3408	0.74296	0.0:0.0:0.0:1.0	.	46;46	C9IYJ3;O75323	.;NIPS2_HUMAN	P	46	ENSP00000313050:L46P;ENSP00000406855:L46P	ENSP00000313050:L46P	L	+	2	0	GBAS	56013357	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.611000	0.82962	2.216000	0.71823	0.533000	0.62120	CTA		0.403	GBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251524.1	NM_001483		18	70	0	0	0	1	0	18	70				
FAM3B	54097	broad.mit.edu	37	21	42720565	42720565	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:42720565G>T	ENST00000357985.2	+	7	678	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	FAM3B_ENST00000398647.3_Nonsense_Mutation_p.E130*|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Nonsense_Mutation_p.E201*|FAM3B_ENST00000398652.3_Nonsense_Mutation_p.E217*	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	178					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TGGAAGTAAAGAAATCAGGAA	0.438																																						ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(649-651)Gaa>Taa		family with sequence similarity 3, member B							110.0	99.0	102.0					21																	42720565		2203	4300	6503	SO:0001587	stop_gained	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42720565G>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.532G>T	21.37:g.42720565G>T	ENSP00000350673:p.Glu178*					FAM3B_ENST00000398647.3_Nonsense_Mutation_p.E130*|FAM3B_ENST00000357985.2_Nonsense_Mutation_p.E178*|FAM3B_ENST00000398646.3_Nonsense_Mutation_p.E201*|FAM3B_ENST00000479810.2_3'UTR	p.E217*			P58499	FAM3B_HUMAN			8	715	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	178						Nonsense_Mutation	SNP	ENST00000357985.2	37	c.649G>T	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029413	0.54790	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398647;ENST00000398646	.	.	.	4.98	4.09	0.47781	.	0.157251	0.43260	D	0.000588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	11.2441	0.48987	0.0:0.2005:0.7995:0.0	.	.	.	.	X	178;217;130;201	.	ENSP00000350673:E178X	E	+	1	0	FAM3B	41642435	1.000000	0.71417	0.114000	0.21550	0.194000	0.23727	2.680000	0.46918	1.063000	0.40649	0.655000	0.94253	GAA		0.438	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		9	32	1	0	3.09899e-07	1	3.17845e-07	9	32				
LDHAL6A	160287	broad.mit.edu	37	11	18497038	18497038	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:18497038G>C	ENST00000280706.2	+	4	1241	c.444G>C	c.(442-444)tgG>tgC	p.W148C	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.W148C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	148					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						ATGTAGCCTGGAAGTTGAGTG	0.363																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(442-444)tgG>tgC		lactate dehydrogenase A-like 6A	NADH(DB00157)						175.0	174.0	174.0					11																	18497038		2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18497038G>C	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.444G>C	11.37:g.18497038G>C	ENSP00000280706:p.Trp148Cys					LDHAL6A_ENST00000396213.3_Missense_Mutation_p.W148C|TSG101_ENST00000536719.1_Intron	p.W148C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			4	1241	+			148					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.444G>C	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600371	0.66332	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.95238	-3.65;-3.65	4.05	4.05	0.47172	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	D	0.97657	0.9232	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98572	1.0646	10	0.87932	D	0	.	13.7155	0.62693	0.0:0.0:1.0:0.0	.	148	Q6ZMR3	LDH6A_HUMAN	C	148	ENSP00000379516:W148C;ENSP00000280706:W148C	ENSP00000280706:W148C	W	+	3	0	LDHAL6A	18453614	1.000000	0.71417	0.803000	0.32268	0.921000	0.55340	8.580000	0.90784	1.809000	0.52856	0.491000	0.48974	TGG		0.363	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		15	79	0	0	0	1	0	15	79				
FBXW7	55294	broad.mit.edu	37	4	153247168	153247168	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:153247168T>C	ENST00000281708.4	-	10	2863	c.1634A>G	c.(1633-1635)tAt>tGt	p.Y545C	FBXW7_ENST00000603841.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000263981.5_Missense_Mutation_p.Y465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y369C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y427C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y545C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	545					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.Y545C(3)|p.Y306C(1)|p.Y427C(1)|p.Y465C(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAATGAATAGACTCTATT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		7	Substitution - Missense(6)|Unknown(1)	p.Y545C(3)|p.Y306C(1)|p.Y427C(1)|p.Y465C(1)|p.?(1)	endometrium(5)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1633-1635)tAt>tGt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							150.0	147.0	148.0					4																	153247168		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247168T>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1634A>G	4.37:g.153247168T>C	ENSP00000281708:p.Tyr545Cys					FBXW7_ENST00000263981.5_Missense_Mutation_p.Y465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000603841.1_Missense_Mutation_p.Y545C|FBXW7_ENST00000296555.5_Missense_Mutation_p.Y427C|FBXW7_ENST00000393956.3_Missense_Mutation_p.Y369C	p.Y545C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2863	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	545					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1634A>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211124	0.79240	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	L	0.49256	1.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.62609	-0.6818	10	0.87932	D	0	-20.3253	16.2962	0.82776	0.0:0.0:0.0:1.0	.	369;545;427;465	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	545;427;465;369	ENSP00000281708:Y545C;ENSP00000296555:Y427C;ENSP00000263981:Y465C;ENSP00000377528:Y369C	ENSP00000263981:Y465C	Y	-	2	0	FBXW7	153466618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.304000	0.77564	0.528000	0.53228	TAT		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			39	53	0	0	0	1	0	39	53				
VLDLR	7436	broad.mit.edu	37	9	2648222	2648222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:2648222C>T	ENST00000382100.3	+	13	2193	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	VLDLR_ENST00000382099.2_Missense_Mutation_p.R613C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	613			R -> H (in dbSNP:rs35948251). {ECO:0000269|Ref.5}.		cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TATAAAAAGTCGCCTCTATTG	0.378																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1837-1839)Cgc>Tgc		very low density lipoprotein receptor							92.0	93.0	93.0					9																	2648222		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2648222C>T		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1837C>T	9.37:g.2648222C>T	ENSP00000371532:p.Arg613Cys					VLDLR_ENST00000382099.2_Missense_Mutation_p.R613C	p.R613C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	13	2193	+			613		R -> H (in dbSNP:rs35948251).			B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.1837C>T	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131607	0.77662	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.96885	-4.16;-4.16	5.79	5.79	0.91817	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.52532	D	0.000075	D	0.98785	0.9591	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99282	1.0896	10	0.87932	D	0	.	20.0371	0.97565	0.0:1.0:0.0:0.0	.	613;613;613	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	C	613;613;492	ENSP00000371532:R613C;ENSP00000371531:R613C	ENSP00000371524:R492C	R	+	1	0	VLDLR	2638222	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	2.321000	0.43805	2.734000	0.93682	0.655000	0.94253	CGC		0.378	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		6	47	0	0	0	1	0	6	47				
HTR1E	3354	broad.mit.edu	37	6	87725443	87725443	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:87725443G>A	ENST00000305344.5	+	2	1094	c.391G>A	c.(391-393)Gcc>Acc	p.A131T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	131					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TATTGAATACGCCAGGAAGAG	0.572																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(391-393)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						101.0	83.0	89.0					6																	87725443		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725443G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.391G>A	6.37:g.87725443G>A	ENSP00000307766:p.Ala131Thr					HTR1E_ENST00000369584.1_Missense_Mutation_p.A131T	p.A131T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1094	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	131					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.391G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674540	0.47781	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.71934	-0.61;-0.61	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000017	T	0.52075	0.1712	L	0.46885	1.475	0.43250	D	0.995174	P	0.51537	0.946	B	0.43331	0.416	T	0.54616	-0.8267	10	0.14252	T	0.57	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	131	P28566	5HT1E_HUMAN	T	131	ENSP00000307766:A131T;ENSP00000358597:A131T	ENSP00000307766:A131T	A	+	1	0	HTR1E	87782162	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.015000	0.76387	1.929000	0.55896	0.404000	0.27445	GCC		0.572	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		9	77	0	0	0	1	0	9	77				
AP1G1	164	broad.mit.edu	37	16	71823313	71823313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:71823313G>A	ENST00000299980.4	-	2	511	c.70C>T	c.(70-72)Cga>Tga	p.R24*	AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R24*|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R24*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R47*|AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R24*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	24					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ATCATTTCTCGTTCTTCAGCT	0.463																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(70-72)Cga>Tga		adaptor-related protein complex 1, gamma 1 subunit							158.0	128.0	138.0					16																	71823313		2198	4300	6498	SO:0001587	stop_gained	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71823313G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.70C>T	16.37:g.71823313G>A	ENSP00000299980:p.Arg24*					AP1G1_ENST00000423132.2_Nonsense_Mutation_p.R24*|AP1G1_ENST00000433195.2_Nonsense_Mutation_p.R47*|AP1G1_ENST00000393512.3_Nonsense_Mutation_p.R24*|AP1G1_ENST00000570297.1_5'UTR|AP1G1_ENST00000569748.1_Nonsense_Mutation_p.R24*	p.R24*	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			2	511	-		Ovarian(137;0.125)	24					O75709|O75842|Q9UG09|Q9Y3U4	Nonsense_Mutation	SNP	ENST00000299980.4	37	c.70C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	42	9.692841	0.99240	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	.	.	.	5.47	4.51	0.55191	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8471	14.0852	0.64951	0.0:0.0:0.7262:0.2738	.	.	.	.	X	24;24;24;47;106;24	.	ENSP00000299980:R24X	R	-	1	2	AP1G1	70380814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.337000	0.65941	1.285000	0.44548	0.467000	0.42956	CGA		0.463	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			12	68	0	0	0	1	0	12	68				
LRRC42	115353	broad.mit.edu	37	1	54428009	54428009	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:54428009G>A	ENST00000371370.3	+	7	1375	c.854G>A	c.(853-855)gGc>gAc	p.G285D	LRRC42_ENST00000319223.4_Missense_Mutation_p.G285D|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	285										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						ACCCACATAGGCCTTGTTCAC	0.443																																						ENST00000371370.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						c.(853-855)gGc>gAc		leucine rich repeat containing 42							106.0	103.0	104.0					1																	54428009		2203	4300	6503	SO:0001583	missense	115353							g.chr1:54428009G>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.854G>A	1.37:g.54428009G>A	ENSP00000360421:p.Gly285Asp					LRRC42_ENST00000477905.1_3'UTR|LRRC42_ENST00000319223.4_Missense_Mutation_p.G285D	p.G285D	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN			7	1375	+			285					D3DQ46|Q8N2Q8	Missense_Mutation	SNP	ENST00000371370.3	37	c.854G>A	CCDS585.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123493	0.94429	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.72384	-0.4310	9	0.59425	D	0.04	-14.4377	20.6634	0.99662	0.0:0.0:1.0:0.0	.	285	Q9Y546	LRC42_HUMAN	D	285	.	ENSP00000318185:G285D	G	+	2	0	LRRC42	54200597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.616000	0.90924	2.894000	0.99253	0.655000	0.94253	GGC		0.443	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		9	25	0	0	0	1	0	9	25				
ANO1	55107	broad.mit.edu	37	11	69933970	69933970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:69933970C>T	ENST00000355303.5	+	2	526	c.221C>T	c.(220-222)tCg>tTg	p.S74L	ANO1_ENST00000538023.1_Missense_Mutation_p.S74L|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.S46L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	74					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AAGAGGCCCTCGGGCAACCGG	0.652																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(220-222)tCg>tTg		anoctamin 1, calcium activated chloride channel							29.0	32.0	31.0					11																	69933970		1996	4156	6152	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:69933970C>T	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.221C>T	11.37:g.69933970C>T	ENSP00000347454:p.Ser74Leu					ANO1_ENST00000538023.1_Missense_Mutation_p.S74L|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000316296.5_Missense_Mutation_p.S46L|ANO1_ENST00000398543.2_5'UTR	p.S74L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			2	526	+			74					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.221C>T	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194498	0.58017	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000531604;ENST00000316296	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.39	4.39	0.52855	.	0.360056	0.25981	N	0.027070	T	0.35885	0.0947	L	0.51422	1.61	0.80722	D	1	D;B	0.63880	0.993;0.063	P;B	0.47941	0.562;0.014	T	0.14980	-1.0453	9	.	.	.	.	15.963	0.79945	0.0:1.0:0.0:0.0	.	46;74	Q5XXA6-3;Q5XXA6	.;ANO1_HUMAN	L	74;74;74;46	ENSP00000347454:S74L;ENSP00000444689:S74L;ENSP00000436392:S74L;ENSP00000319477:S46L	.	S	+	2	0	ANO1	69611618	0.053000	0.20554	0.980000	0.43619	0.542000	0.35054	2.468000	0.45102	1.969000	0.57287	0.561000	0.74099	TCG		0.652	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		4	27	0	0	0	1	0	4	27				
ACSS3	79611	broad.mit.edu	37	12	81545808	81545808	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:81545808G>T	ENST00000548058.1	+	7	1941	c.1031G>T	c.(1030-1032)tGg>tTg	p.W344L	ACSS3_ENST00000548324.1_Missense_Mutation_p.W26L|ACSS3_ENST00000261206.3_Missense_Mutation_p.W343L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	344						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACTTAGGCTGGGTTGTTGGA	0.323																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1030-1032)tGg>tTg		acyl-CoA synthetase short-chain family member 3							109.0	107.0	108.0					12																	81545808		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81545808G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1031G>T	12.37:g.81545808G>T	ENSP00000449535:p.Trp344Leu					ACSS3_ENST00000548324.1_Missense_Mutation_p.W26L|ACSS3_ENST00000261206.3_Missense_Mutation_p.W343L	p.W344L			Q9H6R3	ACSS3_HUMAN			7	1941	+			344					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1031G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819694	0.90873	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.52754	0.98;0.98;0.65	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89802	0.3976	10	0.87932	D	0	-5.093	19.4612	0.94918	0.0:0.0:1.0:0.0	.	26;344	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	L	344;343;26	ENSP00000449535:W344L;ENSP00000261206:W343L;ENSP00000448965:W26L	ENSP00000261206:W343L	W	+	2	0	ACSS3	80069939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.824000	0.99380	2.606000	0.88127	0.557000	0.71058	TGG		0.323	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		28	48	1	0	3.65163e-15	1	3.91246e-15	28	48				
SLITRK1	114798	broad.mit.edu	37	13	84453963	84453963	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr13:84453963C>T	ENST00000377084.2	-	1	2565	c.1680G>A	c.(1678-1680)acG>acA	p.T560T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	560	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTTCACCGGCGTCTCACACT	0.532																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1678-1680)acG>acA		SLIT and NTRK-like family, member 1							62.0	55.0	58.0					13																	84453963		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453963C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1680G>A	13.37:g.84453963C>T							p.T560T	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2565	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	560			LRRCT 2.		Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1680G>A	CCDS9464.1																																																																																				0.532	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		19	18	0	0	0	1	0	19	18				
OR10G2	26534	broad.mit.edu	37	14	22102277	22102277	+	Missense_Mutation	SNP	C	C	T	rs143483449		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:22102277C>T	ENST00000542433.1	-	1	819	c.722G>A	c.(721-723)cGg>cAg	p.R241Q		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GGAGAAGGCCCGGCGCCTCCC	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		17319	0.0		0.001	False		,,,				2504	0.0					ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(721-723)cGg>cAg		olfactory receptor, family 10, subfamily G, member 2							31.0	33.0	32.0					14																	22102277		2199	4289	6488	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102277C>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.722G>A	14.37:g.22102277C>T	ENSP00000445383:p.Arg241Gln						p.R241Q	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	819	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	241					B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.722G>A	CCDS32047.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.33	1.607036	0.28623	.	.	ENSG00000255582	ENST00000542433	T	0.00174	8.62	3.92	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.475126	0.15243	N	0.272783	T	0.00241	0.0007	M	0.80422	2.495	0.09310	N	1	B	0.33512	0.415	B	0.33121	0.158	T	0.31194	-0.9952	10	0.87932	D	0	-5.4019	4.5841	0.12273	0.0:0.7345:0.0:0.2655	.	241	Q8NGC3	O10G2_HUMAN	Q	241	ENSP00000445383:R241Q	ENSP00000445383:R241Q	R	-	2	0	OR10G2	21172117	0.088000	0.21588	0.870000	0.34147	0.360000	0.29518	2.412000	0.44609	2.027000	0.59764	0.557000	0.71058	CGG		0.547	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			20	34	0	0	0	1	0	20	34				
OR10G7	390265	broad.mit.edu	37	11	123908787	123908787	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr11:123908787C>A	ENST00000330487.5	-	1	930	c.922G>T	c.(922-924)Gct>Tct	p.A308S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCACCCTGAGCAAATACTGAC	0.368																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(922-924)Gct>Tct		olfactory receptor, family 10, subfamily G, member 7							61.0	59.0	59.0					11																	123908787		2200	4299	6499	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123908787C>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.922G>T	11.37:g.123908787C>A	ENSP00000329689:p.Ala308Ser						p.A308S	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	930	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	308					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.922G>T	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.300037	0.00243	.	.	ENSG00000182634	ENST00000330487	T	0.04603	3.59	3.1	-3.41	0.04839	.	0.947428	0.08627	N	0.917545	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47947	-0.9077	10	0.14656	T	0.56	.	0.4102	0.00440	0.1816:0.2346:0.1847:0.3991	.	308	Q8NGN6	O10G7_HUMAN	S	308	ENSP00000329689:A308S	ENSP00000329689:A308S	A	-	1	0	OR10G7	123413997	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.424000	0.01029	-0.815000	0.04346	-1.879000	0.00546	GCT		0.368	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		10	17	1	0	2.17888e-05	1	2.21581e-05	10	17				
RPL5	6125	broad.mit.edu	37	1	93306171	93306171	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:93306171C>A	ENST00000370321.3	+	7	859	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	SNORA66_ENST00000515986.1_RNA|SNORA66_ENST00000384792.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	257					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGAAAAGAAGCCCAAGAAAGA	0.398																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(769-771)Ccc>Acc		ribosomal protein L5							91.0	96.0	95.0					1																	93306171		2203	4300	6503	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93306171C>A	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.769C>A	1.37:g.93306171C>A	ENSP00000359345:p.Pro257Thr						p.P257T	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	7	859	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	257					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.769C>A	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877288	0.51801	.	.	ENSG00000122406	ENST00000432788;ENST00000370321	T	0.39997	1.05	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	L	0.54863	1.705	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.014	T	0.09862	-1.0655	10	0.19147	T	0.46	.	19.4592	0.94910	0.0:1.0:0.0:0.0	.	257;257	A2RUM7;P46777	.;RL5_HUMAN	T	207;257	ENSP00000359345:P257T	ENSP00000359345:P257T	P	+	1	0	RPL5	93078759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.974000	0.70465	2.656000	0.90262	0.655000	0.94253	CCC		0.398	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		4	115	1	0	0.184627	1	0.184627	4	115				
PSMD1	5707	broad.mit.edu	37	2	231943412	231943412	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr2:231943412A>G	ENST00000308696.6	+	10	1273	c.1111A>G	c.(1111-1113)Ata>Gta	p.I371V	PSMD1_ENST00000373635.4_Missense_Mutation_p.I371V|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	371					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGCAACCGTTATAGCAAACTC	0.363																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1111-1113)Ata>Gta		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						129.0	122.0	124.0					2																	231943412		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231943412A>G	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1111A>G	2.37:g.231943412A>G	ENSP00000309474:p.Ile371Val					PSMD1_ENST00000373635.4_Missense_Mutation_p.I371V|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371V	p.I371V	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	10	1273	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	371					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1111A>G	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928768	0.52759	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	L	0.61036	1.89	0.80722	D	1	B;B	0.31435	0.22;0.323	B;B	0.34093	0.109;0.175	T	0.58423	-0.7639	9	0.23302	T	0.38	-20.4453	15.9218	0.79583	1.0:0.0:0.0:0.0	.	371;371	Q99460;Q99460-2	PSMD1_HUMAN;.	V	371	.	ENSP00000309474:I371V	I	+	1	0	PSMD1	231651656	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.260000	0.95568	2.156000	0.67533	0.477000	0.44152	ATA		0.363	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			15	17	0	0	0	1	0	15	17				
LEMD2	221496	broad.mit.edu	37	6	33740486	33740486	+	Silent	SNP	C	C	T	rs578140878	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr6:33740486C>T	ENST00000293760.5	-	9	1450	c.1431G>A	c.(1429-1431)acG>acA	p.T477T	LEMD2_ENST00000508327.1_Silent_p.T175T	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	477					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GGTGGGACTCCGTCTGGATCC	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		19129	0.002		0.0	False		,,,				2504	0.0					ENST00000293760.5																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						c.(1429-1431)acG>acA		LEM domain containing 2							70.0	55.0	60.0					6																	33740486		2203	4300	6503	SO:0001819	synonymous_variant	221496					integral to nuclear inner membrane		g.chr6:33740486C>T		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1431G>A	6.37:g.33740486C>T						LEMD2_ENST00000508327.1_Silent_p.T175T	p.T477T	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN			9	1450	-			477					B4DVH5|E7EVT2|Q5T972|Q5T974	Silent	SNP	ENST00000293760.5	37	c.1431G>A	CCDS4785.1																																																																																				0.622	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338		6	36	0	0	0	1	0	6	36				
TRIM58	25893	broad.mit.edu	37	1	248020626	248020626	+	Silent	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:248020626G>A	ENST00000366481.3	+	1	126	c.78G>A	c.(76-78)ccG>ccA	p.P26P		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	26						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCAGGAGCCGGTCAGCGTGG	0.721																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(76-78)ccG>ccA		tripartite motif containing 58							15.0	15.0	15.0					1																	248020626		2196	4295	6491	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248020626G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.78G>A	1.37:g.248020626G>A							p.P26P	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	126	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	26					Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.78G>A	CCDS1636.1																																																																																				0.721	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		4	21	0	0	0	1	0	4	21				
DSCAM	1826	broad.mit.edu	37	21	41385129	41385129	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr21:41385129C>T	ENST00000400454.1	-	33	6348	c.5871G>A	c.(5869-5871)acG>acA	p.T1957T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1957				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCCTTCTCTCGTGGAGGAGG	0.627																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(5869-5871)acG>acA		Down syndrome cell adhesion molecule							29.0	31.0	31.0					21																	41385129		1950	4134	6084	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41385129C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5871G>A	21.37:g.41385129C>T							p.T1957T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			33	6348	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1957	HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).				O60468	Silent	SNP	ENST00000400454.1	37	c.5871G>A	CCDS42929.1																																																																																				0.627	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		14	34	0	0	0	1	0	14	34				
CBX2	84733	broad.mit.edu	37	17	77755584	77755584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:77755584G>A	ENST00000310942.4	+	4	376	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	CBX2_ENST00000269399.5_Missense_Mutation_p.R91Q	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	91	Ser-rich.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGCAGCCGGCGCTCCAAG	0.657																																						ENST00000310942.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16						c.(271-273)cGg>cAg		chromobox homolog 2							46.0	55.0	52.0					17																	77755584		2203	4300	6503	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77755584G>A	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.272G>A	17.37:g.77755584G>A	ENSP00000308750:p.Arg91Gln					CBX2_ENST00000269399.5_Missense_Mutation_p.R91Q	p.R91Q	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	376	+			91			Ser-rich.		Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.272G>A	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726817	0.69074	.	.	ENSG00000173894	ENST00000310942;ENST00000269399	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	T	0.56761	0.2007	N	0.24115	0.695	0.36139	D	0.846682	D;D	0.89917	0.999;1.0	P;D	0.72338	0.886;0.977	T	0.56044	-0.8044	8	0.13853	T	0.58	.	16.3265	0.82983	0.0:0.0:1.0:0.0	.	91;91	Q14781;Q14781-2	CBX2_HUMAN;.	Q	91	.	ENSP00000269399:R91Q	R	+	2	0	CBX2	75370179	1.000000	0.71417	0.959000	0.39883	0.053000	0.15095	5.497000	0.66924	2.430000	0.82344	0.655000	0.94253	CGG		0.657	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		14	82	0	0	0	1	0	14	82				
EML5	161436	broad.mit.edu	37	14	89124669	89124669	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:89124669T>A	ENST00000380664.5	-	26	3738	c.3739A>T	c.(3739-3741)Act>Tct	p.T1247S	EML5_ENST00000554922.1_Missense_Mutation_p.T1247S|EML5_ENST00000352093.5_Missense_Mutation_p.T1209S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1247						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCATCATAAGTCCAGCGAACA	0.403																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3739-3741)Act>Tct		echinoderm microtubule associated protein like 5							151.0	135.0	140.0					14																	89124669		1890	4123	6013	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89124669T>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3739A>T	14.37:g.89124669T>A	ENSP00000370039:p.Thr1247Ser					EML5_ENST00000380664.5_Missense_Mutation_p.T1247S|EML5_ENST00000352093.5_Missense_Mutation_p.T1209S	p.T1247S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			26	3987	-			1247					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.3739A>T	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	T	9.553	1.116357	0.20795	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.29397	1.57;2.01;1.57	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.062461	0.64402	D	0.000007	T	0.11367	0.0277	N	0.02842	-0.48	0.31969	N	0.607462	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.002	T	0.16988	-1.0384	10	0.07482	T	0.82	-19.4523	9.8126	0.40833	0.0:0.0813:0.0:0.9187	.	1247;1247	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	S	1247;1209;1247	ENSP00000451998:T1247S;ENSP00000298315:T1209S;ENSP00000370039:T1247S	ENSP00000298315:T1209S	T	-	1	0	EML5	88194422	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.581000	0.46077	2.062000	0.61559	0.455000	0.32223	ACT		0.403	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			20	79	0	0	0	1	0	20	79				
PCDH10	57575	broad.mit.edu	37	4	134084326	134084326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:134084326C>T	ENST00000264360.5	+	4	3818	c.2992C>T	c.(2992-2994)Cgg>Tgg	p.R998W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	998					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R998W(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGGGCAGAGCGGTCCTTTTC	0.547																																						ENST00000264360.4																			1	Substitution - Missense(1)	p.R998W(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2992-2994)Cgg>Tgg		protocadherin 10							115.0	119.0	117.0					4																	134084326		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084326C>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2992C>T	4.37:g.134084326C>T	ENSP00000264360:p.Arg998Trp						p.R998W	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3818	+			998					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2992C>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054807	0.75960	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.58358	0.34	5.24	1.05	0.20165	.	0.000000	0.37857	N	0.001911	T	0.54191	0.1843	L	0.39898	1.24	0.51233	D	0.999915	D	0.76494	0.999	P	0.53689	0.732	T	0.60388	-0.7273	10	0.87932	D	0	.	14.7366	0.69419	0.7525:0.2475:0.0:0.0	.	998	Q9P2E7	PCD10_HUMAN	W	998	ENSP00000264360:R998W	ENSP00000264360:R998W	R	+	1	2	PCDH10	134303776	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.162000	0.42367	0.311000	0.23014	0.650000	0.86243	CGG		0.547	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		9	174	0	0	0	1	0	9	174				
SFRP1	6422	broad.mit.edu	37	8	41122968	41122968	+	Silent	SNP	G	G	A	rs145952780	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:41122968G>A	ENST00000220772.3	-	3	1000	c.663C>T	c.(661-663)ggC>ggT	p.G221G	SFRP1_ENST00000379845.3_Silent_p.G85G	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	221	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTTCTTGTCGCCATTTTCTT	0.443																																						ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(661-663)ggC>ggT		secreted frizzled-related protein 1		G		4,4402	8.1+/-20.4	0,4,2199	76.0	77.0	76.0		663	-8.8	0.0	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	SFRP1	NM_003012.4		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		221/315	41122968	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41122968G>A	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.663C>T	8.37:g.41122968G>A						SFRP1_ENST00000379845.3_Silent_p.G85G	p.G221G	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		3	1000	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	221			NTR.		O00546|O14779	Silent	SNP	ENST00000220772.3	37	c.663C>T	CCDS34886.1																																																																																				0.443	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		16	56	0	0	0	1	0	16	56				
CLCNKA	1187	broad.mit.edu	37	1	16356265	16356265	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:16356265G>T	ENST00000331433.4	+	13	1286	c.1267G>T	c.(1267-1269)Gcc>Tcc	p.A423S	CLCNKA_ENST00000439316.2_Missense_Mutation_p.A380S|CLCNKA_ENST00000375692.1_Missense_Mutation_p.A423S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A423S|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	423					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCCCATGCCTGCCGGGTACTT	0.592																																						ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1267-1269)Gcc>Tcc		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						219.0	188.0	198.0					1																	16356265		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16356265G>T		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1267G>T	1.37:g.16356265G>T	ENSP00000332771:p.Ala423Ser					CLCNKA_ENST00000439316.2_Missense_Mutation_p.A380S|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A423S|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.A423S	p.A423S			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1395	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	423					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1267G>T	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166337	0.38217	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	3.45	2.5	0.30297	Chloride channel, core (2);	0.054582	0.64402	D	0.000001	D	0.92893	0.7739	L	0.39514	1.22	0.44323	D	0.997207	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.79108	0.992;0.971;0.971;0.971	D	0.88764	0.3259	10	0.09084	T	0.74	.	10.8527	0.46780	0.0:0.0:0.8092:0.1907	.	159;380;423;423	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	S	423;423;380;423	ENSP00000364844:A423S;ENSP00000410353:A423S;ENSP00000414445:A380S;ENSP00000332771:A423S	ENSP00000332771:A423S	A	+	1	0	CLCNKA	16228852	0.001000	0.12720	0.178000	0.23040	0.867000	0.49689	1.104000	0.31074	0.738000	0.32606	0.313000	0.20887	GCC		0.592	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			22	229	1	0	3.28513e-13	1	3.48863e-13	22	229				
ARHGEF18	23370	broad.mit.edu	37	19	7527146	7527146	+	Missense_Mutation	SNP	G	G	A	rs146371166	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:7527146G>A	ENST00000359920.6	+	11	2250	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	666					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCCCAGCCCCGAGGCCTATTC	0.602																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(1996-1998)cGa>cAa		Rho/Rac guanine nucleotide exchange factor (GEF) 18							49.0	51.0	50.0					19																	7527146		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7527146G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1997G>A	19.37:g.7527146G>A	ENSP00000352995:p.Arg666Gln					CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.E624K|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R508Q	p.R666Q	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			11	2250	+		Renal(5;0.0902)	666					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1997G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781375	0.49891	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.34859	1.37;1.34	4.7	-2.21	0.06973	.	0.272643	0.24904	N	0.034666	T	0.31358	0.0794	M	0.78049	2.395	0.09310	N	1	P;D	0.53885	0.737;0.963	B;B	0.42062	0.285;0.374	T	0.36962	-0.9726	10	0.25751	T	0.34	-0.3464	7.2338	0.26057	0.3134:0.4932:0.1934:0.0	.	508;666	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	Q	508;666	ENSP00000319200:R508Q;ENSP00000352995:R666Q	ENSP00000319200:R508Q	R	+	2	0	ARHGEF18	7433146	0.000000	0.05858	0.002000	0.10522	0.831000	0.47069	0.707000	0.25704	-0.182000	0.10602	0.313000	0.20887	CGA		0.602	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		19	78	0	0	0	1	0	19	78				
CHRNB3	1142	broad.mit.edu	37	8	42587393	42587393	+	Missense_Mutation	SNP	G	G	A	rs532561485		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr8:42587393G>A	ENST00000289957.2	+	5	1071	c.943G>A	c.(943-945)Gtg>Atg	p.V315M		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	315					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CATTGTTACCGTGTTTGTCAT	0.443													G|||	1	0.000199681	0.0	0.0	5008	,	,		22367	0.0		0.0	False		,,,				2504	0.001					ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(943-945)Gtg>Atg		cholinergic receptor, nicotinic, beta 3 (neuronal)							336.0	282.0	300.0					8																	42587393		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587393G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.943G>A	8.37:g.42587393G>A	ENSP00000289957:p.Val315Met						p.V315M	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	1071	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	315					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.943G>A	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579594	0.65992	.	.	ENSG00000147432	ENST00000289957	T	0.75821	-0.97	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	H	0.98295	4.195	0.80722	D	1	D	0.59767	0.986	D	0.64506	0.926	D	0.94393	0.7616	10	0.87932	D	0	.	20.2225	0.98327	0.0:0.0:1.0:0.0	.	315	Q05901	ACHB3_HUMAN	M	315	ENSP00000289957:V315M	ENSP00000289957:V315M	V	+	1	0	CHRNB3	42706550	1.000000	0.71417	0.277000	0.24703	0.241000	0.25554	9.869000	0.99810	2.778000	0.95560	0.650000	0.86243	GTG		0.443	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			25	217	0	0	0	1	0	25	217				
NFKB1	4790	broad.mit.edu	37	4	103500169	103500169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:103500169G>A	ENST00000505458.1	+	8	977	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	NFKB1_ENST00000394820.4_Missense_Mutation_p.V234M|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000226574.4_Missense_Mutation_p.V235M|NFKB1_ENST00000600343.1_Missense_Mutation_p.V54M			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	234	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CCTGGAACCCGTGGTATCAGA	0.537																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(703-705)Gtg>Atg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						91.0	83.0	86.0					4																	103500169		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103500169G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.700G>A	4.37:g.103500169G>A	ENSP00000424790:p.Val234Met					NFKB1_ENST00000600343.1_Missense_Mutation_p.V54M|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.V234M|NFKB1_ENST00000505458.1_Missense_Mutation_p.V234M	p.V235M	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	8	1170	+		Hepatocellular(203;0.217)	234			RHD.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.703G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977099	0.92982	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.35	5.35	0.76521	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.82268	0.5000	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.85132	0.0975	10	0.87932	D	0	.	19.0507	0.93043	0.0:0.0:1.0:0.0	.	54;234;235	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	M	235;234;234;28	ENSP00000226574:V235M;ENSP00000378297:V234M;ENSP00000424790:V234M;ENSP00000424815:V28M	ENSP00000226574:V235M	V	+	1	0	NFKB1	103719207	1.000000	0.71417	0.979000	0.43373	0.821000	0.46438	9.489000	0.97949	2.503000	0.84419	0.460000	0.39030	GTG		0.537	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			18	64	0	0	0	1	0	18	64				
GEMIN5	25929	broad.mit.edu	37	5	154271032	154271032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr5:154271032C>T	ENST00000285873.7	-	26	4106	c.4031G>A	c.(4030-4032)aGa>aAa	p.R1344K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1344					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTGTGAGTCTCAAGTCTAG	0.478																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(4030-4032)aGa>aAa		gem (nuclear organelle) associated protein 5							182.0	174.0	177.0					5																	154271032		2203	4300	6503	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154271032C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4031G>A	5.37:g.154271032C>T	ENSP00000285873:p.Arg1344Lys						p.R1344K	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		26	4106	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1344					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.4031G>A	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	5.014	0.188361	0.09547	.	.	ENSG00000082516	ENST00000285873	T	0.69561	-0.41	6.07	-0.482	0.12078	.	1.544370	0.02954	N	0.142179	T	0.54886	0.1886	L	0.44542	1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12734	-1.0536	10	0.23302	T	0.38	0.057	3.6703	0.08272	0.1116:0.2357:0.4441:0.2086	.	1343;1344	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	K	1344	ENSP00000285873:R1344K	ENSP00000285873:R1344K	R	-	2	0	GEMIN5	154251225	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.756000	0.04777	-0.109000	0.12044	-0.165000	0.13383	AGA		0.478	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			38	85	0	0	0	1	0	38	85				
DNAJC5	80331	broad.mit.edu	37	20	62562306	62562306	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr20:62562306G>A	ENST00000360864.4	+	4	577	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	DNAJC5_ENST00000369911.2_Missense_Mutation_p.E142K	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	142					cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAAGGCGCCTGAAGGCGAGGA	0.632																																						ENST00000360864.4																			0				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5						c.(424-426)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily C, member 5							103.0	84.0	90.0					20																	62562306		2203	4300	6503	SO:0001583	missense	80331				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr20:62562306G>A		CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.424G>A	20.37:g.62562306G>A	ENSP00000354111:p.Glu142Lys					DNAJC5_ENST00000369911.2_Missense_Mutation_p.E142K	p.E142K	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN			4	577	+	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		142					A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	ENST00000360864.4	37	c.424G>A	CCDS13546.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300307	0.40694	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.70399	-0.47;-0.48	5.91	5.91	0.95273	.	0.255793	0.45126	D	0.000393	T	0.73369	0.3578	M	0.80616	2.505	0.48288	D	0.999627	B;B	0.29862	0.011;0.259	B;B	0.24701	0.014;0.055	T	0.69895	-0.5021	10	0.27082	T	0.32	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	142;142	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	K	142	ENSP00000358927:E142K;ENSP00000354111:E142K	ENSP00000354111:E142K	E	+	1	0	DNAJC5	62032750	1.000000	0.71417	0.992000	0.48379	0.187000	0.23431	3.532000	0.53553	2.808000	0.96608	0.655000	0.94253	GAA		0.632	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080244.1	NM_025219		7	66	0	0	0	1	0	7	66				
HIST2H2AC	8338	broad.mit.edu	37	1	149858608	149858608	+	Silent	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:149858608A>G	ENST00000331380.2	+	1	84	c.84A>G	c.(82-84)gtA>gtG	p.V28V	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	28						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AGTTCCCGGTAGGGCGAGTGC	0.672																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(82-84)gtA>gtG		histone cluster 2, H2ac							62.0	69.0	67.0					1																	149858608		2203	4298	6501	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858608A>G	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.84A>G	1.37:g.149858608A>G							p.V28V	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	84	+	Breast(34;0.0124)|all_hematologic(923;0.127)		28					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.84A>G	CCDS937.1																																																																																				0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		5	183	0	0	0	1	0	5	183				
AGTR1	185	broad.mit.edu	37	3	148459480	148459480	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:148459480A>G	ENST00000497524.1	+	2	1049	c.658A>G	c.(658-660)Aag>Gag	p.K220E	AGTR1_ENST00000349243.3_Missense_Mutation_p.K220E|AGTR1_ENST00000418473.2_Missense_Mutation_p.K220E|AGTR1_ENST00000461609.1_Missense_Mutation_p.K220E|AGTR1_ENST00000475347.1_Missense_Mutation_p.K220E|AGTR1_ENST00000404754.2_Missense_Mutation_p.K220E|AGTR1_ENST00000542281.1_Missense_Mutation_p.K220E|AGTR1_ENST00000474935.1_Missense_Mutation_p.K220E|AGTR1_ENST00000402260.1_Missense_Mutation_p.K220E	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	220					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TCTTATTTGGAAGGCCCTAAA	0.358																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(658-660)Aag>Gag		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						49.0	54.0	53.0					3																	148459480		2199	4298	6497	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459480A>G	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.658A>G	3.37:g.148459480A>G	ENSP00000419422:p.Lys220Glu					AGTR1_ENST00000497524.1_Missense_Mutation_p.K220E|AGTR1_ENST00000474935.1_Missense_Mutation_p.K220E|AGTR1_ENST00000349243.3_Missense_Mutation_p.K220E|AGTR1_ENST00000461609.1_Missense_Mutation_p.K220E|AGTR1_ENST00000402260.1_Missense_Mutation_p.K220E|AGTR1_ENST00000404754.2_Missense_Mutation_p.K220E|AGTR1_ENST00000418473.2_Missense_Mutation_p.K220E|AGTR1_ENST00000475347.1_Missense_Mutation_p.K220E	p.K220E	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1104	+			220					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.658A>G	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734179	0.69189	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.059619	0.64402	D	0.000003	T	0.46814	0.1412	M	0.86864	2.845	0.43471	D	0.99568	P	0.44281	0.831	P	0.53722	0.733	T	0.54510	-0.8283	10	0.87932	D	0	-7.8802	15.6059	0.76672	1.0:0.0:0.0:0.0	.	220	P30556	AGTR1_HUMAN	E	220	ENSP00000419422:K220E;ENSP00000273430:K220E;ENSP00000443186:K220E;ENSP00000398832:K220E;ENSP00000385612:K220E;ENSP00000419783:K220E;ENSP00000418084:K220E;ENSP00000418851:K220E;ENSP00000385641:K220E	ENSP00000273430:K220E	K	+	1	0	AGTR1	149942170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.998000	0.76277	2.081000	0.62600	0.533000	0.62120	AAG		0.358	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			4	33	0	0	0	1	0	4	33				
CYP27B1	1594	broad.mit.edu	37	12	58162916	58162916	+	5'Flank	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr12:58162916C>T	ENST00000228606.4	-	0	0				METTL1_ENST00000257848.7_3'UTR|METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.G232R|CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCTAGATGTCCCACAACGGGG	0.532																																						ENST00000324871.7																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(694-696)Gga>Aga		methyltransferase like 1							83.0	86.0	85.0					12																	58162916		2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58162916C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58162916C>T	Exception_encountered					METTL1_ENST00000257848.7_3'UTR	p.G232R	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		6	1403	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		232					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.694G>A	CCDS8954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.888|8.888	0.953352|0.953352	0.18431|0.18431	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000548504|ENST00000324871	.|T	.|0.39997	.|1.05	5.99|5.99	0.89|0.89	0.19218|0.19218	.|.	0.830115|0.830115	0.11226|0.11226	N|N	0.586133|0.586133	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.11724|0.11724	0.165|0.165	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.10450	.|0.005	T|T	0.09952|0.09952	-1.0651|-1.0651	6|10	.|0.14252	.|T	.|0.57	-0.0045|-0.0045	9.6624|9.6624	0.39962|0.39962	0.0:0.6258:0.0:0.3742|0.0:0.6258:0.0:0.3742	.|.	.|232	.|Q9UBP6	.|TRMB_HUMAN	E|R	96|232	.|ENSP00000314441:G232R	.|ENSP00000314441:G232R	G|G	-|-	2|1	0|0	METTL1|METTL1	56449183|56449183	0.013000|0.013000	0.17824|0.17824	0.992000|0.992000	0.48379|0.48379	0.831000|0.831000	0.47069|0.47069	0.582000|0.582000	0.23834|0.23834	0.097000|0.097000	0.17492|0.17492	-0.345000|-0.345000	0.07892|0.07892	GGG|GGA		0.532	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		14	75	0	0	0	1	0	14	75				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	51	0	0	0	1	0	4	51				
PAPPA	5069	broad.mit.edu	37	9	119028234	119028234	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:119028234G>T	ENST00000328252.3	+	8	3200	c.2831G>T	c.(2830-2832)aGt>aTt	p.S944I	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	944			S -> R (in dbSNP:rs117124330). {ECO:0000269|PubMed:7508748, ECO:0000269|PubMed:8620868}.		cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCCATGGAAGTGGGTACTGT	0.433																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(2830-2832)aGt>aTt		pregnancy-associated plasma protein A, pappalysin 1							103.0	94.0	97.0					9																	119028234		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119028234G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2831G>T	9.37:g.119028234G>T	ENSP00000330658:p.Ser944Ile					PAPPA_ENST00000534838.1_5'UTR	p.S944I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			8	3200	+			944		S -> R.			B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2831G>T	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710804	0.48517	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.41065	1.01	5.28	3.15	0.36227	.	0.277336	0.47093	D	0.000259	T	0.48114	0.1482	L	0.48642	1.525	0.80722	D	1	D;P	0.59357	0.985;0.918	P;P	0.56916	0.809;0.475	T	0.40251	-0.9573	10	0.59425	D	0.04	-1.3511	9.4652	0.38809	0.2066:0.0:0.7934:0.0	.	388;944	E7EMD3;Q13219	.;PAPP1_HUMAN	I	944;388	ENSP00000330658:S944I	ENSP00000330658:S944I	S	+	2	0	PAPPA	118068055	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	2.742000	0.47434	0.410000	0.25675	0.557000	0.71058	AGT		0.433	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		16	22	1	0	1.15088e-07	1	1.19056e-07	16	22				
JUND	3727	broad.mit.edu	37	19	18391914	18391914	+	Silent	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:18391914C>T	ENST00000252818.3	-	1	518	c.381G>A	c.(379-381)aaG>aaA	p.K127K	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	127					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						TGGCCGCCACCTTGGGGTAGA	0.677																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(379-381)aaG>aaA		jun D proto-oncogene							16.0	17.0	17.0					19																	18391914		2200	4287	6487	SO:0001819	synonymous_variant	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391914C>T		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.381G>A	19.37:g.18391914C>T							p.K127K	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	518	-			127					Q53EK9	Silent	SNP	ENST00000252818.3	37	c.381G>A	CCDS32959.1																																																																																				0.677	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		5	15	0	0	0	1	0	5	15				
PRMT1	3276	broad.mit.edu	37	19	50185257	50185257	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr19:50185257G>A	ENST00000391851.4	+	3	358	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.V49I|PRMT1_ENST00000454376.2_Missense_Mutation_p.V95I	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	85	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGTGCTGGACGTCGGCTCGGG	0.642																																						ENST00000532489.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12						c.(145-147)Gtc>Atc		protein arginine methyltransferase 1							58.0	51.0	53.0					19																	50185257		2203	4300	6503	SO:0001583	missense	3276					cytoplasm	protein methyltransferase activity	g.chr19:50185257G>A	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.229G>A	19.37:g.50185257G>A	ENSP00000375724:p.Val77Ile					PRMT1_ENST00000454376.2_Missense_Mutation_p.V95I|PRMT1_ENST00000391851.4_Missense_Mutation_p.V77I	p.V49I			Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	651	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	76					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	ENST00000391851.4	37	c.145G>A	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110646	0.37242	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.04	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.20610	0.595	0.54753	D	0.999986	P;P;P;B	0.39624	0.648;0.681;0.63;0.443	B;B;B;B	0.36534	0.149;0.226;0.227;0.227	T	0.10451	-1.0629	10	0.36615	T	0.2	-0.134	9.798	0.40746	0.174:0.0:0.826:0.0	.	85;49;77;71	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	I	49;49;49;49;77;71;95;71;49;74	ENSP00000432349:V49I;ENSP00000433556:V49I;ENSP00000432538:V49I;ENSP00000431957:V49I;ENSP00000375724:V77I;ENSP00000406162:V95I;ENSP00000437273:V71I;ENSP00000432788:V49I;ENSP00000436732:V74I	ENSP00000375724:V77I	V	+	1	0	PRMT1	54877069	1.000000	0.71417	0.996000	0.52242	0.323000	0.28346	7.510000	0.81708	1.368000	0.46115	-0.148000	0.13756	GTC		0.642	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		7	59	0	0	0	1	0	7	59				
XPO6	23214	broad.mit.edu	37	16	28145177	28145177	+	Silent	SNP	G	G	A	rs201774423		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:28145177G>A	ENST00000304658.5	-	11	2021	c.1521C>T	c.(1519-1521)caC>caT	p.H507H	XPO6_ENST00000565698.1_Silent_p.H493H	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	507					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGGAGAAGGCGTGCGTGGGCA	0.577																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1519-1521)caC>caT		exportin 6		G		0,4230		0,0,2115	56.0	63.0	61.0		1521	-7.7	0.2	16		61	1,8435		0,1,4217	no	coding-synonymous	XPO6	NM_015171.2		0,1,6332	AA,AG,GG		0.0119,0.0,0.0079		507/1126	28145177	1,12665	2115	4218	6333	SO:0001819	synonymous_variant	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28145177G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1521C>T	16.37:g.28145177G>A						XPO6_ENST00000565698.1_Silent_p.H493H	p.H507H	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			11	2021	-			507					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Silent	SNP	ENST00000304658.5	37	c.1521C>T	CCDS42135.1																																																																																				0.577	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		7	27	0	0	0	1	0	7	27				
WWP2	11060	broad.mit.edu	37	16	69963428	69963428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:69963428C>T	ENST00000359154.2	+	12	1413	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q438*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q438*|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q322*|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	438					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCCGGACCCAGGGGTAAGG	0.602											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1312-1314)Cag>Tag		WW domain containing E3 ubiquitin protein ligase 2							42.0	43.0	43.0					16																	69963428		2198	4300	6498	SO:0001587	stop_gained	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69963428C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1312C>T	16.37:g.69963428C>T	ENSP00000352069:p.Gln438*		OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1118	WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q322*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q438*|WWP2_ENST00000568684.1_5'UTR|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q438*	p.Q438*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			12	1413	+			438					A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	ENST00000359154.2	37	c.1312C>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558970	0.96514	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9528	0.92646	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;438;325;322	.	.	Q	+	1	0	WWP2	68520929	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	7.818000	0.86416	2.482000	0.83794	0.462000	0.41574	CAG		0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		16	52	0	0	0	1	0	16	52				
SPSB4	92369	broad.mit.edu	37	3	140785418	140785418	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr3:140785418G>A	ENST00000310546.2	+	2	1216	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	158	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GAACCAGCCCGGCGTGGCCTA	0.687																																						ENST00000310546.2																			0				biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(472-474)Ggc>Agc		splA/ryanodine receptor domain and SOCS box containing 4							11.0	12.0	12.0					3																	140785418		2183	4284	6467	SO:0001583	missense	92369				intracellular signal transduction	cytoplasm	protein binding	g.chr3:140785418G>A		CCDS3115.1	3q23	2008-02-05			ENSG00000175093	ENSG00000175093			30630	protein-coding gene	gene with protein product		611660				12076535	Standard	NM_080862		Approved	SSB-4	uc003ett.3	Q96A44	OTTHUMG00000160223	ENST00000310546.2:c.472G>A	3.37:g.140785418G>A	ENSP00000311609:p.Gly158Ser						p.G158S	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN			2	1216	+			158			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000310546.2	37	c.472G>A	CCDS3115.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433301	0.43224	.	.	ENSG00000175093	ENST00000310546	T	0.70399	-0.48	5.03	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.401940	0.26776	N	0.022556	T	0.63803	0.2542	L	0.50847	1.595	0.39077	D	0.960839	B	0.24317	0.101	B	0.12837	0.008	T	0.61618	-0.7026	10	0.19590	T	0.45	-25.5268	15.8493	0.78916	0.0:0.0:1.0:0.0	.	158	Q96A44	SPSB4_HUMAN	S	158	ENSP00000311609:G158S	ENSP00000311609:G158S	G	+	1	0	SPSB4	142268108	1.000000	0.71417	0.962000	0.40283	0.942000	0.58702	4.948000	0.63590	2.321000	0.78463	0.563000	0.77884	GGC		0.687	SPSB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359727.1	NM_080862		4	18	0	0	0	1	0	4	18				
FAT1	2195	broad.mit.edu	37	4	187517847	187517847	+	Missense_Mutation	SNP	C	C	T	rs202133523		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr4:187517847C>T	ENST00000441802.2	-	25	13056	c.12847G>A	c.(12847-12849)Gaa>Aaa	p.E4283K	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4283					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCTGAATTCGGGATGCTCT	0.557										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12847-12849)Gaa>Aaa		FAT atypical cadherin 1		C	LYS/GLU	0,4132		0,0,2066	64.0	68.0	67.0		12847	5.2	0.1	4		67	1,8431		0,1,4215	yes	missense	FAT1	NM_005245.3	56	0,1,6281	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	4283/4589	187517847	1,12563	2066	4216	6282	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187517847C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12847G>A	4.37:g.187517847C>T	ENSP00000406229:p.Glu4283Lys	HNSCC(5;0.00058)					p.E4283K	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			25	13056	-			4283						Missense_Mutation	SNP	ENST00000441802.2	37	c.12847G>A	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.487352|4.487352	0.84854|0.84854	0.0|0.0	1.19E-4|1.19E-4	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772	T|.	0.73047|.	-0.71|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79070|0.79070	0.4384|0.4384	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.79427|0.79427	-0.1808|-0.1808	10|5	0.72032|.	D|.	0.01|.	.|.	19.0114|19.0114	0.92874|0.92874	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4283|.	Q14517|.	FAT1_HUMAN|.	K|Q	4283;4285|50	ENSP00000406229:E4283K|.	ENSP00000260147:E4285K|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187754841|187754841	1.000000|1.000000	0.71417|0.71417	0.092000|0.092000	0.20876|0.20876	0.434000|0.434000	0.31775|0.31775	7.651000|7.651000	0.83577|0.83577	2.739000|2.739000	0.93911|0.93911	0.555000|0.555000	0.69702|0.69702	GAA|CGA		0.557	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		16	27	0	0	0	1	0	16	27				
FLVCR2	55640	broad.mit.edu	37	14	76045896	76045896	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr14:76045896T>A	ENST00000238667.4	+	1	937	c.581T>A	c.(580-582)aTc>aAc	p.I194N	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	194					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAGGTTTTCATCCTGGGCATG	0.602																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(580-582)aTc>aAc		feline leukemia virus subgroup C cellular receptor family, member 2							45.0	47.0	47.0					14																	76045896		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76045896T>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.581T>A	14.37:g.76045896T>A	ENSP00000238667:p.Ile194Asn					AC007182.6_ENST00000455232.1_RNA	p.I194N	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	1	937	+			194					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.581T>A	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907241	0.92107	.	.	ENSG00000119686	ENST00000238667	D	0.94966	-3.57	5.65	5.65	0.86999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.93507	3.425	0.80722	D	1	D	0.63046	0.992	D	0.70487	0.969	D	0.98597	1.0657	10	0.59425	D	0.04	-16.6982	15.0659	0.71996	0.0:0.0:0.0:1.0	.	194	Q9UPI3	FLVC2_HUMAN	N	194	ENSP00000238667:I194N	ENSP00000238667:I194N	I	+	2	0	AC007182.1	75115649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.688000	0.84153	2.169000	0.68431	0.528000	0.53228	ATC		0.602	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		27	50	0	0	0	1	0	27	50				
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					ENST00000310991.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(67-78)ctg>ct		transmembrane protein 52				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del						p.LLPL23del	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	76_84	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		6	7						6	7	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr9:21971124_21971125delGA	ENST00000304494.5	-	2	503_504	c.233_234delTC	c.(232-234)ctcfs	p.L78fs	CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H134fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	78					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.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(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)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1380	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(17)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(168)|lung(145)|urinary_tract(91)|bone(75)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(55)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(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.(274-279)tcacfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	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.chr9:21971124_21971125delGA	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.233_234delTC	9.37:g.21971126_21971127delGA	ENSP00000307101:p.Leu78fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.SH133fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.SH92fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs	p.SH92fs			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	568_569	-		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)	0					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.276_277delTC	CCDS6510.1																																																																																				0.723	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	34						21	34	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25258204	25258215	+	In_Frame_Del	DEL	GGTTTATCAGTG	GGTTTATCAGTG	-			TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:25258204_25258215delGGTTTATCAGTG	ENST00000328086.7	-	5	2105_2116	c.1302_1313delCACTGATAAACC	c.(1300-1314)tccactgataaacca>tca	p.TDKP435del		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	435					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATCTCCTTTGGTTTATCAGTGGACGGAGCAC	0.495																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1300-1314)tca>tc		zinc finger with KRAB and SCAN domains 2																																				SO:0001651	inframe_deletion	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258204_25258215delGGTTTATCAGTG	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1302_1313delCACTGATAAACC	16.37:g.25258204_25258215delGGTTTATCAGTG	ENSP00000331626:p.Thr435_Pro438del						p.STDKP434del	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	2105_2116	-			434					A1L3B4|Q6ZN77	In_Frame_Del	DEL	ENST00000328086.7	37	c.1302_1313delCACTGATAAACC	CCDS32410.1																																																																																				0.495	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		10	99						10	99	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32126964	32126964	+	IGR	DEL	T	T	-	rs77063499		TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:32126964delT								RP11-1166P10.6 (30858 upstream) : HERC2P4 (54340 downstream)																							TTGCCCCCCCTGCCGCCGCGG	0.692																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	100289574							g.chr16:32126964delT																													16.37:g.32126964delT														0	456	-									RNA	DEL		37																																																																																					0	0.692									3	3						3	3	---	---	---	---
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	lincRNA	INS	-	-	CCAGTGATGGTCACCT	rs200421189|rs71143515|rs377231404|rs145408521|rs140029302	byFrequency	TCGA-CV-A45R-01A-11D-A24D-08	TCGA-CV-A45R-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ca16f0b-5471-40a1-976d-409a8bea7c0c	1d6f4a43-d1b5-4c30-aec7-ad78a5d6c5b8	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371														3288	0.65655	0.8434	0.5144	5008	,	,		21531	0.6052		0.5537	False		,,,				2504	0.6636					ENST00000564293.1																			0																																																			0							g.chr16:64770704_64770705insCCAGTGATGGTCACCT																													16.37:g.64770704_64770705insCCAGTGATGGTCACCT														0	453_454	+									RNA	INS	ENST00000564293.1	37																																																																																						0.371	RP11-439I14.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000422725.1			2	4						2	4	---	---	---	---
