#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
FAM193A	8603	broad.mit.edu	37	4	2661312	2661312	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:2661312G>A	ENST00000324666.5	+	7	895	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FAM193A_ENST00000545951.1_Missense_Mutation_p.E182K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E206K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E182K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E182K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	182										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGTTACTGGCGAGAACAACTT	0.453																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(544-546)Gag>Aag		family with sequence similarity 193, member A							84.0	79.0	81.0					4																	2661312		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2661312G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.544G>A	4.37:g.2661312G>A	ENSP00000324587:p.Glu182Lys					FAM193A_ENST00000505311.1_Missense_Mutation_p.E182K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E206K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E182K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E182K	p.E182K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			7	895	+			182					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.544G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384372	0.95967	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.39787	1.24;1.64;1.23;1.26;1.06	5.82	5.82	0.92795	.	0.099868	0.64402	D	0.000002	T	0.54415	0.1857	L	0.47716	1.5	0.58432	D	0.999997	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.996;0.998	P;P;P;P;P	0.55965	0.788;0.788;0.788;0.666;0.788	T	0.53753	-0.8394	10	0.66056	D	0.02	-22.3148	19.0808	0.93180	0.0:0.0:1.0:0.0	.	182;206;182;206;182	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	182;182;182;206;36	ENSP00000372290:E182K;ENSP00000324587:E182K;ENSP00000443617:E182K;ENSP00000427505:E206K;ENSP00000427260:E36K	ENSP00000324587:E182K	E	+	1	0	FAM193A	2631110	1.000000	0.71417	0.952000	0.39060	0.762000	0.43233	9.268000	0.95675	2.745000	0.94114	0.561000	0.74099	GAG		0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		9	39	0	0	0	0.058154	0	9	39				
POLR3A	11128	broad.mit.edu	37	10	79760814	79760814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:79760814C>A	ENST00000372371.3	-	18	2535	c.2398G>T	c.(2398-2400)Gga>Tga	p.G800*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	800					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.G800*(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGCTGTCCCACACAGGCA	0.443																																						ENST00000372371.3																			1	Substitution - Nonsense(1)	p.G800*(1)	lung(1)	breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2398-2400)Gga>Tga		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							107.0	100.0	103.0					10																	79760814		2203	4300	6503	SO:0001587	stop_gained	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79760814C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2398G>T	10.37:g.79760814C>A	ENSP00000361446:p.Gly800*						p.G800*	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		18	2535	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		800					Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	ENST00000372371.3	37	c.2398G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	43	9.951539	0.99303	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.2982	20.2366	0.98359	0.0:1.0:0.0:0.0	.	.	.	.	X	800	.	.	G	-	1	0	POLR3A	79430820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.792000	0.96026	0.557000	0.71058	GGA		0.443	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		9	57	1	0	0.00448238	0.047766	0.00450687	9	57				
POLL	27343	broad.mit.edu	37	10	103339236	103339236	+	Nonsense_Mutation	SNP	G	G	A	rs540905898		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:103339236G>A	ENST00000370162.3	-	9	2196	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	POLL_ENST00000370168.3_Nonsense_Mutation_p.R241*|POLL_ENST00000299206.4_Nonsense_Mutation_p.R568*|POLL_ENST00000370172.1_Nonsense_Mutation_p.R480*|POLL_ENST00000370169.1_Nonsense_Mutation_p.R568*|POLL_ENST00000339310.3_Nonsense_Mutation_p.R291*|POLL_ENST00000370158.3_Nonsense_Mutation_p.R293*|POLL_ENST00000463515.1_5'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Nonsense_Mutation_p.R305*|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	568					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GCAGGTTCTCGGTAGGGGAGG	0.647								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.001					ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(1702-1704)Cga>Tga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda							65.0	59.0	61.0					10																	103339236		2203	4300	6503	SO:0001587	stop_gained	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103339236G>A	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.1702C>T	10.37:g.103339236G>A	ENSP00000359181:p.Arg568*					DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_Nonsense_Mutation_p.R241*|DPCD_ENST00000470165.1_Intron|POLL_ENST00000463515.1_5'UTR|POLL_ENST00000299206.4_Nonsense_Mutation_p.R568*|POLL_ENST00000456836.2_Nonsense_Mutation_p.R305*|POLL_ENST00000370158.3_Nonsense_Mutation_p.R293*|POLL_ENST00000370169.1_Nonsense_Mutation_p.R568*|POLL_ENST00000370172.1_Nonsense_Mutation_p.R480*|POLL_ENST00000339310.3_Nonsense_Mutation_p.R291*	p.R568*	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	9	2196	-		Colorectal(252;0.234)	568					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Nonsense_Mutation	SNP	ENST00000370162.3	37	c.1702C>T	CCDS7513.1	.	.	.	.	.	.	.	.	.	.	G	38	7.218049	0.98143	.	.	ENSG00000166169	ENST00000299206;ENST00000370169;ENST00000339310;ENST00000370172;ENST00000370168;ENST00000370162;ENST00000370158;ENST00000456836	.	.	.	4.38	3.45	0.39498	.	0.070113	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9702	11.2255	0.48882	0.0:0.0:0.6674:0.3325	.	.	.	.	X	568;568;291;480;241;568;293;305	.	ENSP00000299206:R568X	R	-	1	2	POLL	103329226	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.384000	0.59607	1.003000	0.39130	0.462000	0.41574	CGA		0.647	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		14	49	0	0	0	0.119110	0	14	49				
RP1	6101	broad.mit.edu	37	8	55542592	55542592	+	Silent	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:55542592T>C	ENST00000220676.1	+	4	6298	c.6150T>C	c.(6148-6150)aaT>aaC	p.N2050N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2050					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGATTCAAATACACAAGACC	0.338																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(6148-6150)aaT>aaC		retinitis pigmentosa 1 (autosomal dominant)							75.0	77.0	76.0					8																	55542592		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542592T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6150T>C	8.37:g.55542592T>C							p.N2050N	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6298	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	2050						Silent	SNP	ENST00000220676.1	37	c.6150T>C	CCDS6160.1																																																																																				0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	46	0	0	0	0.021553	0	6	46				
ADORA3	140	broad.mit.edu	37	1	112031442	112031442	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:112031442G>A	ENST00000369716.4	-	3	795	c.662C>T	c.(661-663)aCt>aTt	p.T221I	ADORA3_ENST00000369717.4_Missense_Mutation_p.T140I|RNU6-792P_ENST00000363490.1_RNA	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GCAGGACATAGTGACAATGAG	0.532																																						ENST00000369716.4																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12						c.(661-663)aCt>aTt		adenosine A3 receptor	Adenosine(DB00640)|Aminophylline(DB01223)						152.0	129.0	137.0					1																	112031442		2203	4300	6503	SO:0001583	missense	140				activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	g.chr1:112031442G>A	BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.662C>T	1.37:g.112031442G>A	ENSP00000358730:p.Thr221Ile					ADORA3_ENST00000369717.4_Missense_Mutation_p.T140I	p.T221I	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	3	795	-		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)	0					A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000369716.4	37	c.662C>T	CCDS838.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621422	0.46736	.	.	ENSG00000121933	ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498	T;T;T	0.04809	3.55;3.55;3.55	5.25	5.25	0.73442	.	0.000000	0.52532	D	0.000072	T	0.14830	0.0358	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.00211	-1.1915	10	0.87932	D	0	-20.7264	14.3738	0.66860	0.0:0.0:1.0:0.0	.	140;221	Q5QNY7;P33765-2	.;.	I	140;221;52;46	ENSP00000358731:T140I;ENSP00000358730:T221I;ENSP00000398770:T46I	ENSP00000347612:T52I	T	-	2	0	ADORA3	111832965	0.990000	0.36364	0.981000	0.43875	0.615000	0.37417	2.601000	0.46249	2.443000	0.82685	0.462000	0.41574	ACT		0.532	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1	NM_000677, NM_020683		12	36	0	0	0	0.105934	0	12	36				
MSL3P1	151507	broad.mit.edu	37	2	234775835	234775835	+	RNA	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:234775835C>G	ENST00000438684.1	-	0	279					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											ACTGTTCTTTCTTCCATTTCC	0.383																																						ENST00000438684.1																			0																				133.0	107.0	115.0					2																	234775835		692	1591	2283			151507							g.chr2:234775835C>G	BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"""male-specific lethal 3-like 2 (Drosophila)"""	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775835C>G								NR_024322.1						0	279	-									RNA	SNP	ENST00000438684.1	37																																																																																						0.383	MSL3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000131002.2	NR_024322		4	32	0	0	0	0.009096	0	4	32				
ANKHD1	54882	broad.mit.edu	37	5	139918552	139918552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:139918552C>T	ENST00000360839.2	+	33	7607	c.7453C>T	c.(7453-7455)Cag>Tag	p.Q2485*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q809*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q2485*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2485						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATCCTCAGCTTGCTGA	0.373																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(7453-7455)Cag>Tag		ankyrin repeat and KH domain containing 1							91.0	84.0	86.0					5																	139918552		2203	4300	6503	SO:0001587	stop_gained	54882							g.chr5:139918552C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7453C>T	5.37:g.139918552C>T	ENSP00000354085:p.Gln2485*					ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.Q2485*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q809*	p.Q2485*	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		33	7577	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	c.7453C>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.379691|6.379691	0.97520|0.97520	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.067381|.	0.64402|.	D|.	0.000006|.	.|T	.|0.80110	.|0.4563	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77539	.|-0.2550	.|3	0.51188|.	T|.	0.08|.	.|.	20.2192|20.2192	0.98319|0.98319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2485;2485;2502;1158;1015;809;2485;504|966;876	.|.	ENSP00000396882:Q504X|.	Q|S	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139898736|139898736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.498000|4.498000	0.60373|0.60373	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.373	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		20	75	0	0	0	0.076483	0	20	75				
APBB1	322	broad.mit.edu	37	11	6432243	6432243	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:6432243C>T	ENST00000609360.1	-	2	434	c.335G>A	c.(334-336)gGc>gAc	p.G112D	APBB1_ENST00000299402.6_Missense_Mutation_p.G112D|APBB1_ENST00000311051.3_Missense_Mutation_p.G112D|APBB1_ENST00000389906.2_Missense_Mutation_p.G112D	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	112					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTGTATCAGGCCTTTGGGGCC	0.632																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(334-336)gGc>gAc		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							165.0	178.0	174.0					11																	6432243		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432243C>T	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.335G>A	11.37:g.6432243C>T	ENSP00000477213:p.Gly112Asp					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.G112D|APBB1_ENST00000299402.6_Missense_Mutation_p.G112D	p.G112D	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	434	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	112					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.335G>A		.	.	.	.	.	.	.	.	.	.	C	16.16	3.043581	0.55003	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.15718	2.4;2.4;2.41	4.66	4.66	0.58398	.	0.382752	0.24771	N	0.035736	T	0.22399	0.0540	N	0.19112	0.55	0.36495	D	0.868676	D	0.57257	0.979	P	0.56434	0.798	T	0.19257	-1.0311	10	0.62326	D	0.03	-15.2077	15.0896	0.72183	0.0:1.0:0.0:0.0	.	112	O00213-2	.	D	112	ENSP00000299402:G112D;ENSP00000311912:G112D;ENSP00000374556:G112D	ENSP00000299402:G112D	G	-	2	0	APBB1	6388819	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.354000	0.34056	2.152000	0.67230	0.393000	0.25936	GGC		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		45	182	0	0	0	0.139131	0	45	182				
OR1J4	26219	broad.mit.edu	37	9	125282179	125282179	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:125282179A>G	ENST00000340750.1	+	1	760	c.760A>G	c.(760-762)Aca>Gca	p.T254A		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GTATTATGGCACAATTATTGG	0.493																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(760-762)Aca>Gca		olfactory receptor, family 1, subfamily J, member 4							141.0	130.0	134.0					9																	125282179		2203	4300	6503	SO:0001583	missense	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125282179A>G	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.760A>G	9.37:g.125282179A>G	ENSP00000343521:p.Thr254Ala						p.T254A	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	760	+			254					A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	ENST00000340750.1	37	c.760A>G	CCDS35122.1	.	.	.	.	.	.	.	.	.	.	A	7.908	0.735918	0.15574	.	.	ENSG00000239590	ENST00000340750	T	0.00253	8.43	5.54	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.219890	0.22219	N	0.062996	T	0.00210	0.0006	L	0.53729	1.69	0.09310	N	0.999991	B	0.14012	0.009	B	0.26969	0.075	T	0.34650	-0.9820	10	0.59425	D	0.04	.	8.7275	0.34478	0.6997:0.0:0.3003:0.0	.	254	Q8NGS1	OR1J4_HUMAN	A	254	ENSP00000343521:T254A	ENSP00000343521:T254A	T	+	1	0	OR1J4	124322000	0.000000	0.05858	0.015000	0.15790	0.006000	0.05464	-1.284000	0.02793	0.166000	0.19597	-0.296000	0.09543	ACA		0.493	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			16	70	0	0	0	0.146539	0	16	70				
THUMPD2	80745	broad.mit.edu	37	2	39963988	39963988	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:39963988C>G	ENST00000505747.1	-	10	1426	c.1399G>C	c.(1399-1401)Gac>Cac	p.D467H	THUMPD2_ENST00000260619.6_Missense_Mutation_p.D437H	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	467							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				GACATTCTGTCTAAGAATTTG	0.403																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.(1399-1401)Gac>Cac		THUMP domain containing 2							205.0	195.0	198.0					2																	39963988		2203	4300	6503	SO:0001583	missense	80745						methyltransferase activity	g.chr2:39963988C>G	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.1399G>C	2.37:g.39963988C>G	ENSP00000423933:p.Asp467His					THUMPD2_ENST00000260619.6_Missense_Mutation_p.D437H	p.D467H	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN			10	1426	-		all_hematologic(82;0.248)	467					A8K7I7|Q53TT8|Q53TV0	Missense_Mutation	SNP	ENST00000505747.1	37	c.1399G>C	CCDS1805.2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476298	0.26511	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.91	2.02	0.26589	.	0.826428	0.11135	N	0.595958	T	0.39332	0.1074	L	0.54323	1.7	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.28933	-1.0028	8	.	.	.	.	6.6791	0.23110	0.0:0.5743:0.2716:0.1541	.	358;467	B4DP37;Q9BTF0	.;THUM2_HUMAN	H	467;437	.	.	D	-	1	0	THUMPD2	39817492	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.549000	0.06041	0.374000	0.24650	0.655000	0.94253	GAC		0.403	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264		26	143	0	0	0	0.116897	0	26	143				
LTN1	26046	broad.mit.edu	37	21	30303556	30303556	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:30303556G>A	ENST00000361371.5	-	29	5238	c.5159C>T	c.(5158-5160)tCa>tTa	p.S1720L	LTN1_ENST00000389194.2_Missense_Mutation_p.S1766L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1720					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTGAATGACTGAGAAACAGAT	0.363																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(5158-5160)tCa>tTa		listerin E3 ubiquitin protein ligase 1							149.0	142.0	144.0					21																	30303556		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30303556G>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.5159C>T	21.37:g.30303556G>A	ENSP00000354977:p.Ser1720Leu					LTN1_ENST00000389194.2_Missense_Mutation_p.S1766L	p.S1720L	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			29	5309	-			1720					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.5159C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.479934	0.96307	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.31510	1.49;1.5	5.4	5.4	0.78164	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60016	-0.7345	10	0.66056	D	0.02	.	19.3716	0.94490	0.0:0.0:1.0:0.0	.	1720	O94822	LTN1_HUMAN	L	1766;1720	ENSP00000373846:S1766L;ENSP00000354977:S1720L	ENSP00000354977:S1720L	S	-	2	0	LTN1	29225427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.805000	0.96524	0.655000	0.94253	TCA		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		14	61	0	0	0	0.105934	0	14	61				
DSCAM	1826	broad.mit.edu	37	21	41725414	41725414	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:41725414C>T	ENST00000400454.1	-	5	1389	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	304	Ig-like C2-type 3.				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)				GGCGGCCTATCACCTTAGCAG	0.502																																					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.(910-912)gtG>gtA		Down syndrome cell adhesion molecule							144.0	141.0	142.0					21																	41725414		2008	4177	6185	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.chr21:41725414C>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.912G>A	21.37:g.41725414C>T							p.V304V	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			5	1389	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	304			Ig-like C2-type 3.		O60468	Silent	SNP	ENST00000400454.1	37	c.912G>A	CCDS42929.1																																																																																				0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		28	152	0	0	0	0.125774	0	28	152				
NISCH	11188	broad.mit.edu	37	3	52521429	52521429	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:52521429G>A	ENST00000479054.1	+	17	1993	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	NISCH_ENST00000345716.4_Missense_Mutation_p.E641K			Q9Y2I1	NISCH_HUMAN	nischarin	641	Glu-rich.|Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ggaggaggatgaggaggagga	0.652																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(1921-1923)Gag>Aag		nischarin							42.0	40.0	41.0					3																	52521429		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52521429G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1921G>A	3.37:g.52521429G>A	ENSP00000418232:p.Glu641Lys					NISCH_ENST00000479054.1_Missense_Mutation_p.E641K	p.E641K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	2055	+			641			Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.1921G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	5.602	0.295846	0.10622	.	.	ENSG00000010322	ENST00000479054;ENST00000345716	T;T	0.07216	3.21;3.21	3.71	3.71	0.42584	.	1.591660	0.04530	N	0.386213	T	0.06234	0.0161	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.27796	0.083	T	0.18524	-1.0334	10	0.48119	T	0.1	.	11.3465	0.49563	0.0:0.0:1.0:0.0	.	641	Q9Y2I1	NISCH_HUMAN	K	641	ENSP00000418232:E641K;ENSP00000339958:E641K	ENSP00000339958:E641K	E	+	1	0	NISCH	52496469	0.980000	0.34600	0.101000	0.21167	0.007000	0.05969	3.156000	0.50708	2.385000	0.81259	0.650000	0.86243	GAG		0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		12	23	0	0	0	0.093190	0	12	23				
UBE2Q1	55585	broad.mit.edu	37	1	154525286	154525286	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154525286G>C	ENST00000292211.4	-	6	819	c.740C>G	c.(739-741)tCt>tGt	p.S247C	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	247					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCGAGCCAGACACTGCACC	0.562																																						ENST00000292211.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(739-741)tCt>tGt		ubiquitin-conjugating enzyme E2Q family member 1							53.0	56.0	55.0					1																	154525286		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154525286G>C	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.740C>G	1.37:g.154525286G>C	ENSP00000292211:p.Ser247Cys					UBE2Q1_ENST00000497453.1_5'UTR	p.S247C	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	819	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		247					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.740C>G	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536207	0.85812	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.18	5.18	0.71444	.	0.060255	0.64402	D	0.000002	T	0.52224	0.1721	M	0.67397	2.05	0.58432	D	0.999994	B	0.28801	0.223	B	0.28709	0.093	T	0.57353	-0.7826	9	0.52906	T	0.07	-0.4285	17.4393	0.87561	0.0:0.0:1.0:0.0	.	247	Q7Z7E8	UB2Q1_HUMAN	C	247	.	ENSP00000292211:S247C	S	-	2	0	UBE2Q1	152791910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.419000	0.97397	2.701000	0.92244	0.563000	0.77884	TCT		0.562	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		9	50	0	0	0	0.080935	0	9	50				
TNIK	23043	broad.mit.edu	37	3	170800121	170800121	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:170800121T>C	ENST00000436636.2	-	27	3576	c.3232A>G	c.(3232-3234)Aaa>Gaa	p.K1078E	TNIK_ENST00000369326.5_Missense_Mutation_p.K1056E|TNIK_ENST00000475336.1_Missense_Mutation_p.K986E|TNIK_ENST00000470834.1_Missense_Mutation_p.K1041E|TNIK_ENST00000538048.1_Missense_Mutation_p.K1030E|TNIK_ENST00000357327.5_Missense_Mutation_p.K1049E|TNIK_ENST00000341852.6_Missense_Mutation_p.K994E|TNIK_ENST00000488470.1_Missense_Mutation_p.K1023E|TNIK_ENST00000460047.1_Missense_Mutation_p.K1015E|TNIK_ENST00000284483.8_Missense_Mutation_p.K1070E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1078	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTATAGACTTTGCCTTGCCCA	0.438																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(3232-3234)Aaa>Gaa		TRAF2 and NCK interacting kinase							94.0	92.0	92.0					3																	170800121		1941	4162	6103	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170800121T>C	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3232A>G	3.37:g.170800121T>C	ENSP00000399511:p.Lys1078Glu					TNIK_ENST00000369326.5_Missense_Mutation_p.K1056E|TNIK_ENST00000460047.1_Missense_Mutation_p.K1015E|TNIK_ENST00000475336.1_Missense_Mutation_p.K986E|TNIK_ENST00000341852.6_Missense_Mutation_p.K994E|TNIK_ENST00000538048.1_Missense_Mutation_p.K1030E|TNIK_ENST00000284483.8_Missense_Mutation_p.K1070E|TNIK_ENST00000488470.1_Missense_Mutation_p.K1023E|TNIK_ENST00000470834.1_Missense_Mutation_p.K1041E|TNIK_ENST00000357327.5_Missense_Mutation_p.K1049E	p.K1078E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3576	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1078			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3232A>G	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028495	0.93518	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5;3.5	5.79	5.79	0.91817	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.17577	0.0422	L	0.38649	1.16	0.80722	D	1	D;D;P;D;D;P;P;D;P	0.58970	0.984;0.974;0.76;0.974;0.974;0.88;0.76;0.974;0.951	D;D;B;D;D;P;B;D;P	0.70487	0.924;0.969;0.316;0.969;0.969;0.639;0.437;0.969;0.809	T	0.00415	-1.1753	10	0.87932	D	0	.	16.1278	0.81406	0.0:0.0:0.0:1.0	.	1030;986;1041;1015;994;1070;1049;1023;1078	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	E	1078;1056;1030;994;1070;986;1049;1015;1023;1041	ENSP00000399511:K1078E;ENSP00000358332:K1056E;ENSP00000443278:K1030E;ENSP00000345352:K994E;ENSP00000284483:K1070E;ENSP00000418156:K986E;ENSP00000349880:K1049E;ENSP00000418916:K1015E;ENSP00000418378:K1023E;ENSP00000419990:K1041E	ENSP00000284483:K1070E	K	-	1	0	TNIK	172282815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.977000	0.88081	2.213000	0.71641	0.533000	0.62120	AAA		0.438	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		5	195	0	0	0	0.014758	0	5	195				
CPS1	1373	broad.mit.edu	37	2	211459299	211459299	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:211459299C>T	ENST00000233072.5	+	12	1428	c.1232C>T	c.(1231-1233)cCg>cTg	p.P411L	CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.P417L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	411					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCAGTCTTACCGAAGCCAGCA	0.363																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(1231-1233)cCg>cTg		carbamoyl-phosphate synthase 1, mitochondrial							145.0	131.0	136.0					2																	211459299		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211459299C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1232C>T	2.37:g.211459299C>T	ENSP00000233072:p.Pro411Leu					CPS1_ENST00000451903.2_5'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.P417L	p.P411L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	12	1428	+			411					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.1232C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740782	0.69304	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D	0.97710	-4.5;-4.49	5.83	5.83	0.93111	Pre-ATP-grasp fold (1);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	M	0.76328	2.33	0.80722	D	1	P;P	0.45986	0.87;0.87	B;B	0.33620	0.167;0.167	D	0.95646	0.8702	10	0.29301	T	0.29	-2.9845	20.1099	0.97909	0.0:1.0:0.0:0.0	.	421;411	Q59HF8;P31327	.;CPSM_HUMAN	L	417;419;411;411	ENSP00000402608:P417L;ENSP00000233072:P411L	ENSP00000233072:P411L	P	+	2	0	CPS1	211167544	1.000000	0.71417	0.970000	0.41538	0.634000	0.38068	6.757000	0.74924	2.753000	0.94483	0.585000	0.79938	CCG		0.363	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			10	41	0	0	0	0.093190	0	10	41				
POLR3D	661	broad.mit.edu	37	8	22106636	22106636	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:22106636C>T	ENST00000397802.4	+	6	950	c.735C>T	c.(733-735)ctC>ctT	p.L245L	POLR3D_ENST00000306433.4_Silent_p.L245L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	245					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTCCAGGCCTCCCGAAGGATG	0.592																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(733-735)ctC>ctT		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							52.0	52.0	52.0					8																	22106636		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22106636C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.735C>T	8.37:g.22106636C>T						POLR3D_ENST00000306433.4_Silent_p.L245L	p.L245L			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	6	950	+			245					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.735C>T	CCDS34858.1																																																																																				0.592	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		4	39	0	0	0	0.009096	0	4	39				
AXL	558	broad.mit.edu	37	19	41765694	41765694	+	Missense_Mutation	SNP	C	C	T	rs61737385		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:41765694C>T	ENST00000301178.4	+	20	2760	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	AXL_ENST00000593513.1_Missense_Mutation_p.A589V|HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000359092.3_Missense_Mutation_p.A848V|HNRNPUL1_ENST00000352456.3_5'Flank	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	857					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGCCTCACTGCGGCTGAGGTC	0.637																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(2569-2571)gCg>gTg		AXL receptor tyrosine kinase							64.0	53.0	57.0					19																	41765694		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765694C>T	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2570C>T	19.37:g.41765694C>T	ENSP00000301178:p.Ala857Val					AXL_ENST00000593513.1_Missense_Mutation_p.A589V|AXL_ENST00000359092.3_Missense_Mutation_p.A848V	p.A857V	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			20	2760	+			857					Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2570C>T	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257903	0.22965	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.75589	-0.95;-0.89	4.68	2.52	0.30459	.	0.622471	0.15608	N	0.253548	T	0.51568	0.1682	N	0.19112	0.55	0.09310	N	1	P;P	0.46277	0.875;0.802	B;B	0.33392	0.163;0.078	T	0.39121	-0.9629	10	0.39692	T	0.17	-2.1309	8.3539	0.32318	0.1548:0.7612:0.0:0.084	rs61737385	848;857	P30530-2;P30530	.;UFO_HUMAN	V	857;848	ENSP00000301178:A857V;ENSP00000351995:A848V	ENSP00000301178:A857V	A	+	2	0	AXL	46457534	0.160000	0.22878	0.001000	0.08648	0.354000	0.29330	2.854000	0.48325	0.558000	0.29135	0.591000	0.81541	GCG		0.637	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			7	42	0	0	0	0.029380	0	7	42				
MICALCL	84953	broad.mit.edu	37	11	12345523	12345523	+	Splice_Site	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:12345523A>G	ENST00000256186.2	+	5	1833		c.e5-1			NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TGGTTTTCATAGGAGAAGAAG	0.353																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.e5-1		MICAL C-terminal like							58.0	58.0	58.0					11																	12345523		1798	4074	5872	SO:0001630	splice_region_variant	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12345523A>G	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1543-1A>G	11.37:g.12345523A>G								NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	5	1833	+								Q7RTP7|Q96JU6	Splice_Site	SNP	ENST00000256186.2	37		CCDS41620.1	.	.	.	.	.	.	.	.	.	.	A	7.678	0.688491	0.14973	.	.	ENSG00000133808	ENST00000256186	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1938	0.31385	0.7731:0.0:0.0:0.2269	.	.	.	.	.	-1	.	.	.	+	.	.	MICALCL	12302099	0.995000	0.38212	0.908000	0.35775	0.094000	0.18550	3.718000	0.54919	1.896000	0.54893	0.460000	0.39030	.		0.353	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867	Intron	3	77	0	0	0	0.009096	0	3	77				
POC5	134359	broad.mit.edu	37	5	74981280	74981280	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:74981280C>G	ENST00000428202.2	-	10	1348	c.1159G>C	c.(1159-1161)Gag>Cag	p.E387Q	POC5_ENST00000446329.2_Missense_Mutation_p.E362Q|POC5_ENST00000514838.2_Missense_Mutation_p.E359Q|POC5_ENST00000510798.1_Missense_Mutation_p.E270Q|POC5_ENST00000380475.2_Missense_Mutation_p.E270Q	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	387					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGACCATACTCTTCCTTTTTA	0.398																																						ENST00000428202.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1159-1161)Gag>Cag		POC5 centriolar protein							172.0	179.0	177.0					5																	74981280		1912	4140	6052	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74981280C>G	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1159G>C	5.37:g.74981280C>G	ENSP00000410216:p.Glu387Gln					POC5_ENST00000510798.1_Missense_Mutation_p.E270Q|POC5_ENST00000380475.2_Missense_Mutation_p.E270Q|POC5_ENST00000446329.2_Missense_Mutation_p.E362Q|POC5_ENST00000514838.2_Missense_Mutation_p.E359Q	p.E387Q	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN			10	1348	-			387					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.1159G>C	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599909	0.66332	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	T;T;T;T;T	0.48836	1.86;1.47;0.8;0.8;1.86	4.36	4.36	0.52297	.	0.388964	0.31031	N	0.008399	T	0.63022	0.2476	M	0.78049	2.395	0.36361	D	0.860671	D;P;P	0.59767	0.986;0.89;0.948	P;P;P	0.58721	0.844;0.549;0.549	T	0.71652	-0.4528	10	0.52906	T	0.07	-19.785	12.7128	0.57100	0.0:1.0:0.0:0.0	.	270;387;362	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	Q	387;359;270;270;362	ENSP00000410216:E387Q;ENSP00000420971:E359Q;ENSP00000369842:E270Q;ENSP00000426796:E270Q;ENSP00000399481:E362Q	ENSP00000369842:E270Q	E	-	1	0	POC5	75017036	0.903000	0.30736	0.967000	0.41034	0.864000	0.49448	3.212000	0.51145	2.706000	0.92434	0.561000	0.74099	GAG		0.398	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408		17	139	0	0	0	0.049695	0	17	139				
NLRP4	147945	broad.mit.edu	37	19	56369057	56369057	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:56369057C>G	ENST00000301295.6	+	3	720	c.298C>G	c.(298-300)Caa>Gaa	p.Q100E	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q100E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q25E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	100					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAAGACCTATCAAGCTCACGC	0.423																																						ENST00000301295.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(298-300)Caa>Gaa		NLR family, pyrin domain containing 4							90.0	85.0	87.0					19																	56369057		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369057C>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.298C>G	19.37:g.56369057C>G	ENSP00000301295:p.Gln100Glu					NLRP4_ENST00000346986.5_Missense_Mutation_p.Q100E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q25E	p.Q100E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	720	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	100					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.298C>G	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057969	0.36277	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.73575	-0.76;-0.72	3.62	-1.55	0.08558	DEATH-like (1);	.	.	.	.	T	0.70868	0.3273	N	0.19112	0.55	0.09310	N	1	D;D	0.65815	0.995;0.988	P;P	0.60789	0.879;0.696	T	0.64076	-0.6492	9	0.51188	T	0.08	.	10.5304	0.44973	0.6798:0.3202:0.0:0.0	.	25;100	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	E	100	ENSP00000301295:Q100E;ENSP00000344787:Q100E	ENSP00000301295:Q100E	Q	+	1	0	NLRP4	61060869	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	-0.012000	0.12699	-0.138000	0.11434	-0.182000	0.12963	CAA		0.423	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		17	74	0	0	0	0.038395	0	17	74				
CSMD3	114788	broad.mit.edu	37	8	113960032	113960032	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:113960032C>T	ENST00000297405.5	-	9	1739	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G395R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G499R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G459R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	499	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAATCTGATCCGATTCTCTTC	0.294										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(1495-1497)Gga>Aga		CUB and Sushi multiple domains 3							76.0	77.0	77.0					8																	113960032		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113960032C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1495G>A	8.37:g.113960032C>T	ENSP00000297405:p.Gly499Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.G459R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G499R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G395R	p.G499R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			9	1739	-			499			Sushi 2.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1495G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.285152	0.80803	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.1	5.1	0.69264	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.82332	0.5014	M	0.86573	2.825	0.46849	D	0.999222	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84130	0.0411	10	0.49607	T	0.09	.	18.866	0.92292	0.0:1.0:0.0:0.0	.	395;499;459	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	459;499;395;499	ENSP00000345799:G459R;ENSP00000297405:G499R;ENSP00000412263:G395R;ENSP00000343124:G499R	ENSP00000297405:G499R	G	-	1	0	CSMD3	114029208	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.124000	0.77185	2.537000	0.85549	0.555000	0.69702	GGA		0.294	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	60	0	0	0	0.105934	0	11	60				
PCCA	5095	broad.mit.edu	37	13	100915005	100915005	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:100915005C>G	ENST00000376285.1	+	10	777	c.739C>G	c.(739-741)Caa>Gaa	p.Q247E	PCCA_ENST00000376279.3_Missense_Mutation_p.Q247E|PCCA_ENST00000376286.4_Missense_Mutation_p.Q221E	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	247	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATTGTCATCTCAAGAAGCTGC	0.418																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(739-741)Caa>Gaa		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						116.0	131.0	126.0					13																	100915005		2203	4298	6501	SO:0001583	missense	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100915005C>G	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.739C>G	13.37:g.100915005C>G	ENSP00000365462:p.Gln247Glu					PCCA_ENST00000376286.4_Missense_Mutation_p.Q221E|PCCA_ENST00000376279.3_Missense_Mutation_p.Q247E	p.Q247E	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			10	777	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		247			ATP-grasp.|Biotin carboxylation.		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	ENST00000376285.1	37	c.739C>G	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638542	0.47153	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97575	-4.44;-4.44;-4.44	5.12	5.12	0.69794	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	N	0.21373	0.66	0.80722	D	1	B;B;B	0.13145	0.007;0.006;0.007	B;B;B	0.15484	0.013;0.008;0.013	D	0.90191	0.4250	10	0.33940	T	0.23	.	18.5495	0.91058	0.0:1.0:0.0:0.0	.	247;221;247	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	E	221;247;247	ENSP00000365463:Q221E;ENSP00000365456:Q247E;ENSP00000365462:Q247E	ENSP00000365456:Q247E	Q	+	1	0	PCCA	99713006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.175000	0.77632	2.358000	0.79984	0.655000	0.94253	CAA		0.418	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			30	136	0	0	0	0.050027	0	30	136				
NUP210L	91181	broad.mit.edu	37	1	154029395	154029395	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:154029395C>G	ENST00000368559.3	-	23	3207	c.3136G>C	c.(3136-3138)Gaa>Caa	p.E1046Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1046Q|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1046					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATATAATTTTCAGAGTATTCG	0.418																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3136-3138)Gaa>Caa		nucleoporin 210kDa-like							141.0	127.0	131.0					1																	154029395		1853	4103	5956	SO:0001583	missense	91181					integral to membrane		g.chr1:154029395C>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3136G>C	1.37:g.154029395C>G	ENSP00000357547:p.Glu1046Gln					NUP210L_ENST00000271854.3_Missense_Mutation_p.E1046Q	p.E1046Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		23	3207	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1046					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.3136G>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817854	0.32145	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06294	3.58;3.32	4.95	4.95	0.65309	.	0.199099	0.35349	N	0.003279	T	0.02455	0.0075	L	0.46157	1.445	0.29744	N	0.836859	B;B	0.20887	0.049;0.028	B;B	0.15052	0.012;0.012	T	0.37244	-0.9714	10	0.17832	T	0.49	-29.7093	13.0825	0.59121	0.0:0.8386:0.1614:0.0	.	1046;1046	E7EP56;Q5VU65	.;P210L_HUMAN	Q	1046	ENSP00000357547:E1046Q;ENSP00000271854:E1046Q	ENSP00000271854:E1046Q	E	-	1	0	NUP210L	152296019	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.040000	0.41203	2.562000	0.86427	0.650000	0.86243	GAA		0.418	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		11	48	0	0	0	0.080935	0	11	48				
MMP16	4325	broad.mit.edu	37	8	89180146	89180146	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:89180146C>T	ENST00000286614.6	-	4	742	c.461G>A	c.(460-462)cGt>cAt	p.R154H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	154					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATCAAAGGCACGGCGAATAGC	0.368																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(460-462)cGt>cAt		matrix metallopeptidase 16 (membrane-inserted)							112.0	101.0	104.0					8																	89180146		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180146C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.461G>A	8.37:g.89180146C>T	ENSP00000286614:p.Arg154His					MMP16_ENST00000544227.1_5'UTR	p.R154H	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	742	-			154					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.461G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712891	0.96830	.	.	ENSG00000156103	ENST00000286614	T	0.23552	1.9	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.69248	2.105	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.65233	0.882;0.933	T	0.34054	-0.9844	10	0.51188	T	0.08	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	154;154	P51512-2;P51512	.;MMP16_HUMAN	H	154	ENSP00000286614:R154H	ENSP00000286614:R154H	R	-	2	0	MMP16	89249262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.937000	0.99478	0.650000	0.86243	CGT		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		7	46	0	0	0	0.038147	0	7	46				
PCNX	22990	broad.mit.edu	37	14	71493536	71493536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:71493536C>T	ENST00000304743.2	+	15	3849	c.3403C>T	c.(3403-3405)Cag>Tag	p.Q1135*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q1135*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q1024*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1135						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTCCTGCCTCAGGTGAATAC	0.284																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3403-3405)Cag>Tag		pecanex homolog (Drosophila)							132.0	128.0	129.0					14																	71493536		2202	4298	6500	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71493536C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3403C>T	14.37:g.71493536C>T	ENSP00000304192:p.Gln1135*					PCNX_ENST00000439984.3_Nonsense_Mutation_p.Q1024*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.Q1135*	p.Q1135*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	15	3849	+			1135					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.3403C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359866	0.95854	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.0755	0.93159	0.0:1.0:0.0:0.0	.	.	.	.	X	1135;1135;1024	.	ENSP00000238570:Q1135X	Q	+	1	0	PCNX	70563289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.775000	0.85489	2.515000	0.84797	0.655000	0.94253	CAG		0.284	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		14	64	0	0	0	0.038395	0	14	64				
SRRM2	23524	broad.mit.edu	37	16	2816182	2816182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:2816182C>T	ENST00000301740.8	+	11	6202	c.5653C>T	c.(5653-5655)Cga>Tga	p.R1885*		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1885	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGATAAGCCGACGTAGGTC	0.592																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(5653-5655)Cga>Tga		serine/arginine repetitive matrix 2							98.0	93.0	95.0					16																	2816182		2198	4300	6498	SO:0001587	stop_gained	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816182C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5653C>T	16.37:g.2816182C>T	ENSP00000301740:p.Arg1885*						p.R1885*	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			11	6202	+			1885			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Nonsense_Mutation	SNP	ENST00000301740.8	37	c.5653C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	46	12.171439	0.99643	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	.	.	.	5.46	4.48	0.54585	.	0.000000	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.1756	13.1081	0.59259	0.1615:0.8385:0.0:0.0	.	.	.	.	X	1885;1885;1137	.	ENSP00000301740:R1885X	R	+	1	2	SRRM2	2756183	0.978000	0.34361	0.987000	0.45799	0.996000	0.88848	0.746000	0.26275	1.247000	0.43917	0.650000	0.86243	CGA		0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			9	49	0	0	0	0.047766	0	9	49				
MYO1E	4643	broad.mit.edu	37	15	59455404	59455404	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:59455404C>T	ENST00000288235.4	-	23	2978	c.2579G>A	c.(2578-2580)cGt>cAt	p.R860H		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	860	Myosin tail. {ECO:0000255}.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCCTCGTAACGCTTTGCTAA	0.433																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(2578-2580)cGt>cAt		myosin IE							109.0	95.0	100.0					15																	59455404		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59455404C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2579G>A	15.37:g.59455404C>T	ENSP00000288235:p.Arg860His						p.R860H	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	23	2978	-			860					Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.2579G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876884	0.51801	.	.	ENSG00000157483	ENST00000288235	T	0.35048	1.33	4.09	4.09	0.47781	Myosin tail 2 (1);	0.126684	0.50627	D	0.000104	T	0.33702	0.0872	L	0.53249	1.67	0.51012	D	0.999901	B	0.16802	0.019	B	0.23574	0.047	T	0.19516	-1.0303	10	0.46703	T	0.11	.	10.5242	0.44938	0.0:0.9109:0.0:0.0891	.	860	Q12965	MYO1E_HUMAN	H	860	ENSP00000288235:R860H	ENSP00000288235:R860H	R	-	2	0	MYO1E	57242696	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.792000	0.62467	2.295000	0.77249	0.655000	0.94253	CGT		0.433	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		7	27	0	0	0	0.038147	0	7	27				
TDP1	55775	broad.mit.edu	37	14	90433740	90433740	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90433740C>T	ENST00000335725.4	+	5	883	c.633C>T	c.(631-633)ctC>ctT	p.L211L	TDP1_ENST00000555880.1_Silent_p.L211L|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Silent_p.L211L|TDP1_ENST00000393452.3_Silent_p.L211L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	211					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGACTGGCTCGTAAAACAGT	0.408								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(631-633)ctC>ctT	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							171.0	165.0	167.0					14																	90433740		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90433740C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.633C>T	14.37:g.90433740C>T						TDP1_ENST00000555880.1_Silent_p.L211L|TDP1_ENST00000393454.2_Silent_p.L211L|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393452.3_Silent_p.L211L	p.L211L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	5	883	+		all_cancers(154;0.185)	211					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.633C>T	CCDS9888.1																																																																																				0.408	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		18	81	0	0	0	0.076483	0	18	81				
IFFO1	25900	broad.mit.edu	37	12	6664531	6664531	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6664531A>G	ENST00000396840.2	-	1	706	c.665T>C	c.(664-666)gTg>gCg	p.V222A	IFFO1_ENST00000336604.4_Missense_Mutation_p.V222A|IFFO1_ENST00000356896.4_Missense_Mutation_p.V222A|NOP2_ENST00000542015.1_5'Flank			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	222						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ATCCGGGTGCACCCACGACAA	0.682																																						ENST00000336604.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(664-666)gTg>gCg		intermediate filament family orphan 1							60.0	65.0	63.0					12																	6664531		2203	4300	6503	SO:0001583	missense	25900					intermediate filament		g.chr12:6664531A>G	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.665T>C	12.37:g.6664531A>G	ENSP00000380052:p.Val222Ala					IFFO1_ENST00000356896.4_Missense_Mutation_p.V222A|IFFO1_ENST00000396840.2_Missense_Mutation_p.V222A	p.V222A	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN			1	706	-			222					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Missense_Mutation	SNP	ENST00000396840.2	37	c.665T>C		.	.	.	.	.	.	.	.	.	.	A	17.23	3.337143	0.60963	.	.	ENSG00000010295	ENST00000336604;ENST00000396840;ENST00000356896	T;T;T	0.48522	0.81;0.81;0.81	4.03	2.84	0.33178	.	0.116812	0.32970	N	0.005426	T	0.33235	0.0856	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.28291	0.206;0.206;0.206;0.206	B;B;B;B	0.28011	0.085;0.085;0.085;0.085	T	0.05037	-1.0910	10	0.11182	T	0.66	-16.3293	6.0536	0.19799	0.667:0.1698:0.0:0.1631	.	222;222;222;222	Q0D2I5-7;Q0D2I5-4;Q0D2I5;Q0D2I5-5	.;.;IFFO1_HUMAN;.	A	222	ENSP00000337593:V222A;ENSP00000380052:V222A;ENSP00000349364:V222A	ENSP00000337593:V222A	V	-	2	0	IFFO1	6534792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.411000	0.73298	0.660000	0.30964	0.459000	0.35465	GTG		0.682	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		8	50	0	0	0	0.047766	0	8	50				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(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.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		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.chr3:178936091G>A		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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	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	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	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	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			73	123	0	0	0	0.139131	0	73	123				
FLG2	388698	broad.mit.edu	37	1	152331346	152331346	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:152331346C>G	ENST00000388718.5	-	2	87	c.15G>C	c.(13-15)ttG>ttC	p.L5F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	5	S-100-like. {ECO:0000250}.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACACTTCTCAAGAGGTCGG	0.393																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(13-15)ttG>ttC		filaggrin family member 2							93.0	87.0	89.0					1																	152331346		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152331346C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.15G>C	1.37:g.152331346C>G	ENSP00000373370:p.Leu5Phe					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.L5F	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	87	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		5			S-100-like (By similarity).		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.15G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660677	0.47572	.	.	ENSG00000143520	ENST00000388718	T	0.11495	2.77	5.26	0.854	0.19007	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.18425	0.0442	M	0.85099	2.735	0.29663	N	0.843033	D	0.89917	1.0	D	0.87578	0.998	T	0.02202	-1.1196	9	0.72032	D	0.01	-8.0782	7.0399	0.25015	0.0:0.5221:0.0:0.4779	.	5	Q5D862	FILA2_HUMAN	F	5	ENSP00000373370:L5F	ENSP00000373370:L5F	L	-	3	2	FLG2	150597970	0.276000	0.24211	0.854000	0.33618	0.961000	0.63080	0.136000	0.15974	-0.042000	0.13535	0.650000	0.86243	TTG		0.393	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		13	62	0	0	0	0.105934	0	13	62				
PCDH1	5097	broad.mit.edu	37	5	141248480	141248480	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:141248480A>C	ENST00000394536.3	-	2	696	c.557T>G	c.(556-558)cTc>cGc	p.L186R	PCDH1_ENST00000456271.1_Missense_Mutation_p.L186R|PCDH1_ENST00000287008.3_Missense_Mutation_p.L186R|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000536585.1_Missense_Mutation_p.L164R|PCDH1_ENST00000503492.1_Missense_Mutation_p.L186R	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	186	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GATGGGGAAGAGTGAGCCGAT	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(556-558)cTc>cGc		protocadherin 1							324.0	309.0	314.0					5																	141248480		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141248480A>C	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.557T>G	5.37:g.141248480A>C	ENSP00000378043:p.Leu186Arg					PCDH1_ENST00000503492.1_Missense_Mutation_p.L186R|PCDH1_ENST00000536585.1_Missense_Mutation_p.L164R|PCDH1_ENST00000456271.1_Missense_Mutation_p.L186R|PCDH1_ENST00000394536.3_Missense_Mutation_p.L186R	p.L186R	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	2	704	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	186			Cadherin 2.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.557T>G	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978785	0.18812	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.91	3.75	0.43078	Cadherin (3);Cadherin-like (1);	0.000000	0.46442	D	0.000285	T	0.40522	0.1120	N	0.11818	0.18	0.58432	D	0.999996	D;D	0.89917	0.983;1.0	P;D	0.85130	0.897;0.997	T	0.42783	-0.9431	10	0.02654	T	1	.	8.3291	0.32175	0.9051:0.0:0.0948:0.0	.	186;186	Q08174;Q08174-2	PCDH1_HUMAN;.	R	186;186;186;186;197;164	ENSP00000424667:L186R;ENSP00000287008:L186R;ENSP00000378043:L186R;ENSP00000403497:L186R;ENSP00000350122:L197R;ENSP00000438825:L164R	ENSP00000287008:L186R	L	-	2	0	PCDH1	141228664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.969000	0.49232	1.977000	0.57605	0.449000	0.29647	CTC		0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		46	204	0	0	0	0.139131	0	46	204				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	74	0	0	0	0.115264	0	3	74				
NAV3	89795	broad.mit.edu	37	12	78513538	78513538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:78513538C>T	ENST00000397909.2	+	15	3735	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	NAV3_ENST00000228327.6_Missense_Mutation_p.R1188C|NAV3_ENST00000266692.7_Missense_Mutation_p.R1188C|NAV3_ENST00000536525.2_Missense_Mutation_p.R1188C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1188	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1188S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGGTCAGGGCGCTCGAGTCC	0.493										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.R1188S(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(3562-3564)Cgc>Tgc		neuron navigator 3							75.0	80.0	78.0					12																	78513538		1942	4124	6066	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513538C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3562C>T	12.37:g.78513538C>T	ENSP00000381007:p.Arg1188Cys	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.R1188C|NAV3_ENST00000536525.2_Missense_Mutation_p.R1188C|NAV3_ENST00000266692.7_Missense_Mutation_p.R1188C	p.R1188C			Q8IVL0	NAV3_HUMAN			15	3735	+			1188			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3562C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.970811|3.970811	0.74246|0.74246	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.40385	.|U	.|0.001113	T|T	0.59729|0.59729	0.2215|0.2215	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0	.|P;D;D;P	.|0.76071	.|0.772;0.987;0.964;0.897	T|T	0.61705|0.61705	-0.7008|-0.7008	5|10	.|0.72032	.|D	.|0.01	-13.5276|-13.5276	11.4937|11.4937	0.50396|0.50396	0.1393:0.7263:0.1344:0.0|0.1393:0.7263:0.1344:0.0	.|.	.|1188;1188;1188;1188	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	V|C	259|1188	.|ENSP00000446132:R1188C;ENSP00000381007:R1188C;ENSP00000228327:R1188C;ENSP00000266692:R1188C	.|ENSP00000228327:R1188C	A|R	+|+	2|1	0|0	NAV3|NAV3	77037669|77037669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.826000|3.826000	0.55738|0.55738	2.600000|2.600000	0.87896|0.87896	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.493	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		9	43	0	0	0	0.069234	0	9	43				
EP300	2033	broad.mit.edu	37	22	41531855	41531855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:41531855C>T	ENST00000263253.7	+	7	2786	c.1567C>T	c.(1567-1569)Caa>Taa	p.Q523*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	523					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAGGAGTTCAAACGCCGAG	0.373			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1567-1569)Caa>Taa		E1A binding protein p300							147.0	142.0	144.0					22																	41531855		2203	4300	6503	SO:0001587	stop_gained	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41531855C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1567C>T	22.37:g.41531855C>T	ENSP00000263253:p.Gln523*						p.Q523*	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			7	2786	+			523					B1AKC2	Nonsense_Mutation	SNP	ENST00000263253.7	37	c.1567C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	49	15.662356	0.99841	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.98	5.98	0.97165	.	0.000000	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.7485	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	523	.	ENSP00000263253:Q523X	Q	+	1	0	EP300	39861801	1.000000	0.71417	0.996000	0.52242	0.905000	0.53344	5.624000	0.67764	2.835000	0.97688	0.650000	0.86243	CAA		0.373	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		12	46	0	0	0	0.146539	0	12	46				
OR51V1	283111	broad.mit.edu	37	11	5221401	5221401	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:5221401T>A	ENST00000321255.1	-	1	529	c.530A>T	c.(529-531)tAc>tTc	p.Y177F		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAATGACAGTAATTAAAAAA	0.393																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(529-531)tAc>tTc		olfactory receptor, family 51, subfamily V, member 1							46.0	50.0	49.0					11																	5221401		2201	4295	6496	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221401T>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.530A>T	11.37:g.5221401T>A	ENSP00000321729:p.Tyr177Phe						p.Y177F	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	529	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	177						Missense_Mutation	SNP	ENST00000321255.1	37	c.530A>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	T	5.995	0.367476	0.11352	.	.	ENSG00000176742	ENST00000321255	T	0.34072	1.38	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000242	T	0.37679	0.1012	L	0.28115	0.83	0.21064	N	0.999792	D	0.89917	1.0	D	0.91635	0.999	T	0.29397	-1.0013	10	0.05620	T	0.96	.	8.3374	0.32224	0.2652:0.0:0.0:0.7348	.	177	Q9H2C8	O51V1_HUMAN	F	177	ENSP00000321729:Y177F	ENSP00000321729:Y177F	Y	-	2	0	OR51V1	5177977	0.002000	0.14202	0.118000	0.21660	0.031000	0.12232	-0.319000	0.08039	2.213000	0.71641	0.533000	0.62120	TAC		0.393	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		18	64	0	0	0	0.043863	0	18	64				
DIAPH1	1729	broad.mit.edu	37	5	140903714	140903714	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140903714A>G	ENST00000398557.4	-	27	3797	c.3657T>C	c.(3655-3657)cgT>cgC	p.R1219R	DIAPH1_ENST00000253811.6_Silent_p.R1220R|DIAPH1_ENST00000398566.3_Silent_p.R1211R|DIAPH1_ENST00000389057.5_Silent_p.R1210R|DIAPH1_ENST00000518047.1_Silent_p.R1207R|DIAPH1_ENST00000520569.1_Silent_p.R1162R|DIAPH1_ENST00000389054.3_Silent_p.R1216R|DIAPH1_ENST00000398562.2_Silent_p.R1195R	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1219	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTACCTTGACGGGGCCCTC	0.532																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(3658-3660)cgT>cgC		diaphanous-related formin 1							89.0	94.0	92.0					5																	140903714		2038	4189	6227	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140903714A>G	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3657T>C	5.37:g.140903714A>G						DIAPH1_ENST00000398562.2_Silent_p.R1195R|DIAPH1_ENST00000398566.3_Silent_p.R1211R|DIAPH1_ENST00000389054.3_Silent_p.R1216R|DIAPH1_ENST00000389057.5_Silent_p.R1210R|DIAPH1_ENST00000520569.1_Silent_p.R1162R|DIAPH1_ENST00000398557.4_Silent_p.R1219R|DIAPH1_ENST00000518047.1_Silent_p.R1207R	p.R1220R			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		27	3800	-			1219			DAD.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.3660T>C	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278485	0.23307	.	.	ENSG00000131504	ENST00000448451	.	.	.	5.6	-5.23	0.02798	.	.	.	.	.	T	0.39733	0.1089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43909	-0.9362	4	.	.	.	.	4.0004	0.09577	0.1588:0.4423:0.2841:0.1148	.	.	.	.	P	65	.	.	S	-	1	0	DIAPH1	140883898	0.003000	0.15002	0.990000	0.47175	0.904000	0.53231	-1.089000	0.03376	-0.419000	0.07439	-0.321000	0.08615	TCA		0.532	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		14	65	0	0	0	0.132662	0	14	65				
ATG2B	55102	broad.mit.edu	37	14	96783566	96783566	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:96783566G>A	ENST00000359933.4	-	20	4019	c.3126C>T	c.(3124-3126)gaC>gaT	p.D1042D		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1042					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGTTCTGAGAGTCTAATTTTT	0.373																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3124-3126)gaC>gaT		autophagy related 2B							79.0	76.0	77.0					14																	96783566		1799	4069	5868	SO:0001819	synonymous_variant	55102							g.chr14:96783566G>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3126C>T	14.37:g.96783566G>A							p.D1042D	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4019	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1042					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.3126C>T	CCDS9944.2																																																																																				0.373	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		12	60	0	0	0	0.080935	0	12	60				
CCDC129	223075	broad.mit.edu	37	7	31692184	31692184	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:31692184A>G	ENST00000407970.3	+	14	2914	c.2876A>G	c.(2875-2877)cAa>cGa	p.Q959R	CCDC129_ENST00000319386.3_Missense_Mutation_p.Q811R|CCDC129_ENST00000451887.2_Missense_Mutation_p.Q985R|CCDC129_ENST00000409210.1_Missense_Mutation_p.Q867R	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	959										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCTGCATCAATATAACTGG	0.468																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2431-2433)cAa>cGa		coiled-coil domain containing 129							42.0	37.0	39.0					7																	31692184		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692184A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2876A>G	7.37:g.31692184A>G	ENSP00000384416:p.Gln959Arg					CCDC129_ENST00000451887.2_Missense_Mutation_p.Q985R|CCDC129_ENST00000409210.1_Missense_Mutation_p.Q867R|CCDC129_ENST00000407970.3_Missense_Mutation_p.Q959R	p.Q811R			Q6ZRS4	CC129_HUMAN			14	3425	+			959			Cys-rich.		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2432A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.421	1.082921	0.20309	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18338	2.22;2.49;2.48;2.22	4.6	0.364	0.16124	.	0.462575	0.18431	N	0.141421	T	0.14184	0.0343	L	0.31926	0.97	0.09310	N	1	B;P;P;B	0.49635	0.013;0.926;0.926;0.052	B;P;P;B	0.49999	0.011;0.628;0.49;0.011	T	0.16276	-1.0408	10	0.22706	T	0.39	0.0	5.1703	0.15107	0.4551:0.3672:0.0:0.1777	.	985;969;959;811	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	R	811;959;985;969;867	ENSP00000313062:Q811R;ENSP00000384416:Q959R;ENSP00000395835:Q985R;ENSP00000387214:Q867R	ENSP00000313062:Q811R	Q	+	2	0	CCDC129	31658709	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	-0.159000	0.10056	0.294000	0.22547	0.459000	0.35465	CAA		0.468	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	16	0	0	0	0.009096	0	3	16				
ISYNA1	51477	broad.mit.edu	37	19	18546719	18546719	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:18546719C>T	ENST00000338128.8	-	8	1205	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	ISYNA1_ENST00000545187.1_Missense_Mutation_p.V180M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.V128M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.V202M|ISYNA1_ENST00000457269.4_Missense_Mutation_p.V276M	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	330					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTGTAACTCACGATGGACATG	0.622																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(538-540)Gtg>Atg		inositol-3-phosphate synthase 1							145.0	153.0	150.0					19																	18546719		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18546719C>T		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.988G>A	19.37:g.18546719C>T	ENSP00000337746:p.Val330Met					ISYNA1_ENST00000457269.3_Missense_Mutation_p.V276M|ISYNA1_ENST00000317018.6_Missense_Mutation_p.V128M|ISYNA1_ENST00000578963.1_Missense_Mutation_p.V202M|ISYNA1_ENST00000338128.7_Missense_Mutation_p.V330M	p.V180M			Q9NPH2	INO1_HUMAN			5	824	-			330					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.538G>A	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474350	0.43942	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.58	4.58	0.56647	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.64402	D	0.000002	T	0.77498	0.4139	M	0.73372	2.23	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.989;0.989;0.982	T	0.80551	-0.1332	9	0.72032	D	0.01	-29.0444	15.2171	0.73277	0.0:1.0:0.0:0.0	.	128;276;330;180	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	M	330;276;180;128	.	ENSP00000315147:V128M	V	-	1	0	ISYNA1	18407719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.053000	0.64269	2.264000	0.75181	0.561000	0.74099	GTG		0.622	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		40	160	0	0	0	0.117977	0	40	160				
CCT6B	10693	broad.mit.edu	37	17	33288392	33288392	+	Silent	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:33288392G>C	ENST00000314144.5	-	1	136	c.21C>G	c.(19-21)gtC>gtG	p.V7V	ZNF830_ENST00000361952.3_5'Flank|CCT6B_ENST00000421975.3_Silent_p.V7V|CCT6B_ENST00000436961.3_Silent_p.V7V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	7					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				CCTTGGAGTTGACGGCCTTTA	0.572																																						ENST00000314144.5																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20						c.(19-21)gtC>gtG		chaperonin containing TCP1, subunit 6B (zeta 2)							41.0	45.0	44.0					17																	33288392		2203	4300	6503	SO:0001819	synonymous_variant	10693				chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding	g.chr17:33288392G>C	D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.21C>G	17.37:g.33288392G>C						CCT6B_ENST00000421975.3_Silent_p.V7V|CCT6B_ENST00000436961.3_Silent_p.V7V	p.V7V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN			1	136	-		Ovarian(249;0.17)	7					B4DX20|B4DYB0|Q8TC34	Silent	SNP	ENST00000314144.5	37	c.21C>G	CCDS32617.1																																																																																				0.572	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448014.1	NM_006584		4	48	0	0	0	0.029380	0	4	48				
DENND3	22898	broad.mit.edu	37	8	142178285	142178285	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:142178285G>A	ENST00000262585.2	+	13	1974	c.1696G>A	c.(1696-1698)Gtt>Att	p.V566I	DENND3_ENST00000424248.1_Missense_Mutation_p.V514I|DENND3_ENST00000519811.1_Missense_Mutation_p.V646I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	566					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGAGGGCTCGTTTATCTGAT	0.522																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1936-1938)Gtt>Att		DENN/MADD domain containing 3							118.0	113.0	115.0					8																	142178285		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142178285G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1696G>A	8.37:g.142178285G>A	ENSP00000262585:p.Val566Ile					DENND3_ENST00000424248.1_Missense_Mutation_p.V514I|DENND3_ENST00000262585.2_Missense_Mutation_p.V566I	p.V646I			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		13	2006	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		566					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1936G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.529|1.529	-0.544839|-0.544839	0.04024|0.04024	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.13420	.|3.01;2.59;3.0	5.56|5.56	-1.46|-1.46	0.08800|0.08800	.|.	.|0.395482	.|0.29059	.|N	.|0.013267	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.25351	.|0.076;0.124;0.076	.|B;B;B	.|0.13407	.|0.004;0.009;0.004	T|T	0.43988|0.43988	-0.9357|-0.9357	5|10	.|0.07644	.|T	.|0.81	-4.9508|-4.9508	7.7032|7.7032	0.28636|0.28636	0.4533:0.1121:0.4346:0.0|0.4533:0.1121:0.4346:0.0	.|.	.|646;514;566	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	H|I	570|566;514;646	.|ENSP00000262585:V566I;ENSP00000410594:V514I;ENSP00000428714:V646I	.|ENSP00000262585:V566I	R|V	+|+	2|1	0|0	DENND3|DENND3	142247467|142247467	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.477000|0.477000	0.33069|0.33069	0.475000|0.475000	0.22164|0.22164	-0.165000|-0.165000	0.10908|0.10908	0.462000|0.462000	0.41574|0.41574	CGT|GTT		0.522	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		14	152	0	0	0	0.105934	0	14	152				
USP47	55031	broad.mit.edu	37	11	11971469	11971469	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971469A>G	ENST00000399455.2	+	24	3562	c.3442A>G	c.(3442-3444)Aaa>Gaa	p.K1148E	USP47_ENST00000339865.5_Missense_Mutation_p.K1060E|USP47_ENST00000527733.1_Missense_Mutation_p.K1128E|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGTGTTTGCTAAAGGAATGAC	0.338																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(3178-3180)Aaa>Gaa		ubiquitin specific peptidase 47							125.0	113.0	117.0					11																	11971469		1858	4100	5958	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11971469A>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3442A>G	11.37:g.11971469A>G	ENSP00000382382:p.Lys1148Glu					USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.K1148E|USP47_ENST00000527733.1_Missense_Mutation_p.K1128E	p.K1060E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	22	3941	+			1148					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3178A>G		.	.	.	.	.	.	.	.	.	.	A	27.9	4.871687	0.91587	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94723	-3.5;-3.5;-3.5	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.95781	0.8627	L	0.46157	1.445	0.80722	D	1	D;D	0.63880	0.993;0.974	D;D	0.70935	0.971;0.969	D	0.95542	0.8613	10	0.45353	T	0.12	.	15.5746	0.76365	1.0:0.0:0.0:0.0	.	1128;1060	E9PM46;Q96K76-2	.;.	E	1060;1128;1148	ENSP00000339957:K1060E;ENSP00000433146:K1128E;ENSP00000382382:K1148E	ENSP00000339957:K1060E	K	+	1	0	USP47	11928045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.210000	0.71456	0.533000	0.62120	AAA		0.338	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		6	36	0	0	0	0.029380	0	6	36				
MIR381HG	378881	broad.mit.edu	37	14	101512279	101512279	+	lincRNA	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:101512279T>C	ENST00000553692.1	+	0	28				MIR1185-1_ENST00000408598.1_RNA|MIR381_ENST00000362150.1_RNA|MIR539_ENST00000365690.2_RNA|MIR1185-2_ENST00000408687.1_RNA|MIR889_ENST00000401280.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR487B_ENST00000385021.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		GGTTGCCCTTTGTATATTCGG	0.517																																						ENST00000553692.1																			0																				66.0	66.0	66.0					14																	101512279		1567	3580	5147			378881							g.chr14:101512279T>C	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101512279T>C						MIR381_ENST00000362150.1_RNA								0	28	+									RNA	SNP	ENST00000553692.1	37																																																																																						0.517	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			3	13	0	0	0	0.014758	0	3	13				
OR5D16	390144	broad.mit.edu	37	11	55606633	55606633	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55606633G>A	ENST00000378396.1	+	1	406	c.406G>A	c.(406-408)Gtt>Att	p.V136I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	136						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(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTCTACACAGTTGCCATCTC	0.453																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(406-408)Gtt>Att		olfactory receptor, family 5, subfamily D, member 16							125.0	113.0	117.0					11																	55606633		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606633G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.406G>A	11.37:g.55606633G>A	ENSP00000367649:p.Val136Ile						p.V136I	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	406	+		all_epithelial(135;0.208)	136					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.406G>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	5.996	0.367616	0.11352	.	.	ENSG00000205029	ENST00000378396	T	0.01197	5.19	4.15	0.579	0.17397	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01387	0.0045	L	0.38733	1.17	0.09310	N	1	B	0.31989	0.35	B	0.40101	0.319	T	0.48410	-0.9038	9	0.46703	T	0.11	-19.8414	2.7384	0.05246	0.4541:0.0:0.3345:0.2115	.	136	Q8NGK9	OR5DG_HUMAN	I	136	ENSP00000367649:V136I	ENSP00000367649:V136I	V	+	1	0	OR5D16	55363209	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.410000	0.07151	0.367000	0.24454	0.530000	0.56133	GTT		0.453	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		20	83	0	0	0	0.049695	0	20	83				
PLPPR4	9890	broad.mit.edu	37	1	99771596	99771596	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:99771596C>T	ENST00000370185.3	+	7	1819	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	LPPR4_ENST00000457765.1_Missense_Mutation_p.S383F|LPPR4_ENST00000370184.1_Missense_Mutation_p.S283F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		441					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCTATGGATTCCGCTCGATCA	0.498																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1321-1323)tCc>tTc									70.0	70.0	70.0					1																	99771596		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771596C>T																												ENST00000370185.3:c.1322C>T	1.37:g.99771596C>T	ENSP00000359204:p.Ser441Phe					LPPR4_ENST00000370184.1_Missense_Mutation_p.S283F|LPPR4_ENST00000457765.1_Missense_Mutation_p.S383F	p.S441F	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1819	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	441					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1322C>T	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518031	0.64634	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.31247	2.06;1.99;1.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.83275	0.996;0.887	T	0.15809	-1.0424	9	.	.	.	-19.2376	19.3904	0.94578	0.0:1.0:0.0:0.0	.	383;441	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	F	441;383;441;283	ENSP00000359204:S441F;ENSP00000394913:S383F;ENSP00000359203:S283F	.	S	+	2	0	RP4-788L13.1	99544184	1.000000	0.71417	0.971000	0.41717	0.717000	0.41224	7.405000	0.80007	2.575000	0.86900	0.650000	0.86243	TCC		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			18	75	0	0	0	0.038395	0	18	75				
SMC1A	8243	broad.mit.edu	37	X	53426517	53426517	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:53426517G>A	ENST00000322213.4	-	16	2683	c.2556C>T	c.(2554-2556)ctC>ctT	p.L852L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	852					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTACCTTTTTGAGCTTTTCTA	0.363																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(2554-2556)ctC>ctT		structural maintenance of chromosomes 1A							217.0	181.0	193.0					X																	53426517		2203	4300	6503	SO:0001819	synonymous_variant	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53426517G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2556C>T	X.37:g.53426517G>A							p.L852L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			16	2683	-			852					O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	c.2556C>T	CCDS14352.1																																																																																				0.363	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		13	28	0	0	0	0.146539	0	13	28				
MYO3B	140469	broad.mit.edu	37	2	171055792	171055792	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:171055792C>T	ENST00000408978.4	+	2	220	c.77C>T	c.(76-78)aCc>aTc	p.T26I	MYO3B_ENST00000334231.6_Missense_Mutation_p.T35I|MYO3B_ENST00000409044.3_Missense_Mutation_p.T26I|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	26					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CCCACAGACACCTGGGAAATT	0.413																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(103-105)aCc>aTc		myosin IIIB							83.0	80.0	81.0					2																	171055792		1869	4087	5956	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171055792C>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.77C>T	2.37:g.171055792C>T	ENSP00000386213:p.Thr26Ile					MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.T26I|MYO3B_ENST00000408978.4_Missense_Mutation_p.T26I	p.T35I			Q8WXR4	MYO3B_HUMAN			2	104	+			26			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.104C>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033488	0.35893	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.55	5.55	0.83447	Protein kinase-like domain (1);	0.153823	0.56097	D	0.000023	T	0.21921	0.0528	N	0.20766	0.605	0.42758	D	0.993795	D;B;B;P	0.55800	0.973;0.382;0.264;0.955	P;B;B;P	0.58266	0.726;0.206;0.153;0.836	T	0.01874	-1.1256	10	0.45353	T	0.12	.	19.5113	0.95142	0.0:1.0:0.0:0.0	.	26;26;26;26	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	I	26;26;25;35;35	ENSP00000386497:T26I;ENSP00000386213:T26I;ENSP00000446237:T35I;ENSP00000335100:T35I	ENSP00000314213:T25I	T	+	2	0	MYO3B	170764038	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.588000	0.60999	2.620000	0.88729	0.563000	0.77884	ACC		0.413	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			8	43	0	0	0	0.047766	0	8	43				
AIFM1	9131	broad.mit.edu	37	X	129272623	129272623	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:129272623C>T	ENST00000287295.3	-	9	1142	c.912G>A	c.(910-912)acG>acA	p.T304T	AIFM1_ENST00000535724.1_Silent_p.T217T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000460436.2_5'Flank|AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000440263.1_5'Flank	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	304	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CACCGATAATCGTAATTGATT	0.433																																						ENST00000287295.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						c.(910-912)acG>acA		apoptosis-inducing factor, mitochondrion-associated, 1							126.0	115.0	119.0					X																	129272623		2203	4300	6503	SO:0001819	synonymous_variant	9131				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chrX:129272623C>T	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.912G>A	X.37:g.129272623C>T						AIFM1_ENST00000319908.3_Silent_p.T300T|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Silent_p.T217T	p.T304T	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN			9	1142	-			304			FAD-dependent oxidoreductase (By similarity).		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	ENST00000287295.3	37	c.912G>A	CCDS14618.1																																																																																				0.433	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2			51	35	0	0	0	0.139131	0	51	35				
MMP13	4322	broad.mit.edu	37	11	102816405	102816405	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:102816405C>T	ENST00000260302.3	-	9	1313	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	MMP13_ENST00000340273.4_Missense_Mutation_p.D429N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	429	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TCTACTTTATCACCAATTCCT	0.338																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1285-1287)Gat>Aat		matrix metallopeptidase 13 (collagenase 3)							149.0	156.0	153.0					11																	102816405		2202	4297	6499	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102816405C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1285G>A	11.37:g.102816405C>T	ENSP00000260302:p.Asp429Asn					MMP13_ENST00000340273.4_Missense_Mutation_p.D429N	p.D429N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	9	1313	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	429			Hemopexin-like 3.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1285G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	4.018	0.000679	0.07819	.	.	ENSG00000137745	ENST00000260302;ENST00000340273	T;T	0.15372	2.54;2.43	6.16	3.96	0.45880	Hemopexin/matrixin (2);	0.137923	0.64402	N	0.000004	T	0.11281	0.0275	L	0.27944	0.81	0.42635	D	0.993393	B	0.02656	0.0	B	0.09377	0.004	T	0.08722	-1.0708	10	0.10377	T	0.69	.	13.025	0.58810	0.0:0.8069:0.0:0.1931	.	429	P45452	MMP13_HUMAN	N	429	ENSP00000260302:D429N;ENSP00000339672:D429N	ENSP00000260302:D429N	D	-	1	0	MMP13	102321615	0.000000	0.05858	1.000000	0.80357	0.447000	0.32167	0.078000	0.14761	1.592000	0.50018	0.650000	0.86243	GAT		0.338	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		17	58	0	0	0	0.043863	0	17	58				
EHMT1	79813	broad.mit.edu	37	9	140657192	140657192	+	Missense_Mutation	SNP	C	C	T	rs562496442		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:140657192C>T	ENST00000460843.1	+	10	1594	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	EHMT1_ENST00000462484.1_Missense_Mutation_p.R523W|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R492W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	523					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGCAGCTGCCGGATGGAAAC	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21042	0.0		0.0	False		,,,				2504	0.001					ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(1567-1569)Cgg>Tgg		euchromatic histone-lysine N-methyltransferase 1							106.0	85.0	92.0					9																	140657192		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140657192C>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1567C>T	9.37:g.140657192C>T	ENSP00000417980:p.Arg523Trp					EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.R492W|EHMT1_ENST00000462484.1_Missense_Mutation_p.R523W	p.R523W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	10	1594	+	all_cancers(76;0.164)		523					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.1567C>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836259	0.91117	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.74106	1.17;0.39;-0.81	5.26	4.34	0.51931	.	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.87108	0.2183	10	0.87932	D	0	.	14.639	0.68708	0.147:0.853:0.0:0.0	.	523;492;523	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	W	492;492;523;523	ENSP00000334476:R492W;ENSP00000417328:R523W;ENSP00000417980:R523W	ENSP00000334476:R492W	R	+	1	2	EHMT1	139777013	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.660000	0.61511	1.184000	0.42957	0.655000	0.94253	CGG		0.537	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		8	36	0	0	0	0.047766	0	8	36				
PARP11	57097	broad.mit.edu	37	12	3931108	3931108	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:3931108G>A	ENST00000228820.4	-	6	623	c.479C>T	c.(478-480)aCg>aTg	p.T160M	PARP11_ENST00000397096.2_Missense_Mutation_p.T153M|PARP11_ENST00000447133.3_Missense_Mutation_p.T79M|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000427057.2_Missense_Mutation_p.T79M	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	153	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.T153M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GCGATCCATCGTCTTCCCAAA	0.348																																						ENST00000228820.4																			1	Substitution - Missense(1)	p.T153M(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(478-480)aCg>aTg		poly (ADP-ribose) polymerase family, member 11							82.0	88.0	86.0					12																	3931108		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3931108G>A	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.479C>T	12.37:g.3931108G>A	ENSP00000228820:p.Thr160Met					PARP11_ENST00000427057.2_Missense_Mutation_p.T79M|PARP11_ENST00000476985.1_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.T153M|PARP11_ENST00000447133.3_Missense_Mutation_p.T79M	p.T160M	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		6	623	-			153			PARP catalytic.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.479C>T	CCDS8523.2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323544	0.81580	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.11	5.11	0.69529	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.051511	0.85682	D	0.000000	T	0.53658	0.1810	M	0.88512	2.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.973;0.984	T	0.62153	-0.6914	10	0.87932	D	0	.	16.0762	0.80969	0.0:0.0:1.0:0.0	.	79;160;153	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	M	153;79;160;79	ENSP00000380284:T153M;ENSP00000397058:T79M;ENSP00000228820:T160M;ENSP00000405385:T79M	ENSP00000228820:T160M	T	-	2	0	PARP11	3801369	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.893000	0.92498	2.633000	0.89246	0.637000	0.83480	ACG		0.348	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			19	72	0	0	0	0.062417	0	19	72				
TBL1XR1	79718	broad.mit.edu	37	3	176769363	176769363	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:176769363C>T	ENST00000430069.1	-	5	615	c.356G>A	c.(355-357)aGc>aAc	p.S119N	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S119N			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	119					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCCTTGTTGGCTGGCTGCAGC	0.453																																						ENST00000430069.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(355-357)aGc>aAc		transducin (beta)-like 1 X-linked receptor 1							69.0	68.0	68.0					3																	176769363		1846	4086	5932	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176769363C>T	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.356G>A	3.37:g.176769363C>T	ENSP00000405574:p.Ser119Asn					TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S119N	p.S119N			Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		5	615	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	119					D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.356G>A	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	0.540	-0.853932	0.02630	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758;ENST00000428970;ENST00000424913;ENST00000352800;ENST00000437738;ENST00000431421;ENST00000450267	T;T	0.52295	0.67;0.67	5.52	-0.144	0.13440	.	0.197752	0.53938	N	0.000053	T	0.29749	0.0743	L	0.43152	1.355	0.28724	N	0.902873	B	0.02656	0.0	B	0.01281	0.0	T	0.26326	-1.0106	10	0.09843	T	0.71	-7.0023	6.0662	0.19864	0.0:0.1383:0.2548:0.6069	.	119	Q9BZK7	TBL1R_HUMAN	N	119;119;32;32;32;119;119;32;119	ENSP00000405574:S119N;ENSP00000413251:S119N	ENSP00000263964:S119N	S	-	2	0	TBL1XR1	178252057	0.969000	0.33509	0.468000	0.27192	0.092000	0.18411	0.792000	0.26929	-0.185000	0.10550	-0.455000	0.05494	AGC		0.453	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		13	290	0	0	0	0.132662	0	13	290				
MAN1A2	10905	broad.mit.edu	37	1	117984891	117984891	+	Silent	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:117984891C>G	ENST00000356554.3	+	6	1629	c.894C>G	c.(892-894)ctC>ctG	p.L298L		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	298					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CTGAGAAACTCCTTCCTGCCT	0.343																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.(892-894)ctC>ctG		mannosidase, alpha, class 1A, member 2							116.0	116.0	116.0					1																	117984891		2203	4300	6503	SO:0001819	synonymous_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117984891C>G	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.894C>G	1.37:g.117984891C>G							p.L298L	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	6	1629	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	298					Q9H510	Silent	SNP	ENST00000356554.3	37	c.894C>G	CCDS895.1	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092896	0.20471	.	.	ENSG00000198162	ENST00000449370	.	.	.	5.82	1.9	0.25705	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	-4.7329	7.1103	0.25386	0.0:0.6505:0.0:0.3495	.	.	.	.	C	31	.	.	S	+	2	0	MAN1A2	117786414	0.971000	0.33674	1.000000	0.80357	0.993000	0.82548	-0.110000	0.10824	0.378000	0.24764	0.591000	0.81541	TCC		0.343	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		14	97	0	0	0	0.132662	0	14	97				
GPR162	27239	broad.mit.edu	37	12	6933294	6933294	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:6933294G>A	ENST00000311268.3	+	2	1017	c.230G>A	c.(229-231)cGt>cAt	p.R77H	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGCTGCGTCGTCAGGCTTCC	0.602																																						ENST00000311268.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						c.(229-231)cGt>cAt		G protein-coupled receptor 162							116.0	88.0	97.0					12																	6933294		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6933294G>A	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.230G>A	12.37:g.6933294G>A	ENSP00000311528:p.Arg77His					GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	p.R77H	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN			2	1017	+			77					Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.230G>A	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153143	0.38021	.	.	ENSG00000250510	ENST00000311268	T	0.37058	1.22	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22475	0.0542	N	0.19112	0.55	0.80722	D	1	P;P	0.45428	0.858;0.593	B;B	0.39562	0.303;0.093	T	0.02813	-1.1107	9	0.45353	T	0.12	.	9.9016	0.41351	0.095:0.0:0.905:0.0	.	77;77	B7Z3U3;Q16538	.;GP162_HUMAN	H	77	ENSP00000311528:R77H	ENSP00000311528:R77H	R	+	2	0	GPR162	6803555	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	6.610000	0.74178	2.034000	0.60081	0.313000	0.20887	CGT		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		11	62	0	0	0	0.093190	0	11	62				
ZFYVE26	23503	broad.mit.edu	37	14	68252948	68252948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:68252948G>A	ENST00000347230.4	-	17	3160	c.3022C>T	c.(3022-3024)Cga>Tga	p.R1008*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.R1008*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1008					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTATCCGTCGACCTGGAAAT	0.388																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(3022-3024)Cga>Tga		zinc finger, FYVE domain containing 26							68.0	65.0	66.0					14																	68252948		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68252948G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3022C>T	14.37:g.68252948G>A	ENSP00000251119:p.Arg1008*					ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.R1008*	p.R1008*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	17	3160	-			1008					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.3022C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	43	9.831954	0.99275	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.44	5.44	0.79542	.	0.368103	0.25261	N	0.031956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3017	19.2594	0.93961	0.0:0.0:1.0:0.0	.	.	.	.	X	1008;987;1008	.	ENSP00000251119:R1008X	R	-	1	2	ZFYVE26	67322701	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.396000	0.59684	2.531000	0.85337	0.655000	0.94253	CGA		0.388	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		8	19	0	0	0	0.038147	0	8	19				
SLC15A2	6565	broad.mit.edu	37	3	121649690	121649690	+	Silent	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:121649690T>C	ENST00000489711.1	+	18	1945	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	SLC15A2_ENST00000465060.1_3'UTR|SLC15A2_ENST00000295605.2_Silent_p.F488F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	519					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCCTCAGGTTTGTTAACACTT	0.383																																						ENST00000489711.1																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(1555-1557)ttT>ttC		solute carrier family 15 (oligopeptide transporter), member 2	Cefadroxil(DB01140)						124.0	119.0	121.0					3																	121649690		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121649690T>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1557T>C	3.37:g.121649690T>C						SLC15A2_ENST00000295605.2_Silent_p.F488F|SLC15A2_ENST00000465060.1_3'UTR	p.F519F	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	18	1945	+			519					A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.1557T>C	CCDS3007.1																																																																																				0.383	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		10	45	0	0	0	0.069234	0	10	45				
PIK3CB	5291	broad.mit.edu	37	3	138417818	138417818	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:138417818C>G	ENST00000477593.1	-	12	1774	c.1701G>C	c.(1699-1701)gaG>gaC	p.E567D	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E567D|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E13D			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	567	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GTGGGAAAATCTCTCGGCAGT	0.378																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1699-1701)gaG>gaC		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							142.0	141.0	141.0					3																	138417818		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138417818C>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1701G>C	3.37:g.138417818C>G	ENSP00000418143:p.Glu567Asp					PIK3CB_ENST00000289153.2_Missense_Mutation_p.E567D|PIK3CB_ENST00000544716.1_Missense_Mutation_p.E13D	p.E567D			P42338	PK3CB_HUMAN			12	1774	-			567			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1701G>C	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.554033|1.554033	0.27739|0.27739	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153|ENST00000493568	T;T;T|.	0.63913|.	-0.07;-0.07;-0.07|.	5.91|5.91	3.33|3.33	0.38152|0.38152	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);|.	1.047410|.	0.07354|.	N|.	0.882922|.	T|T	0.30792|0.30792	0.0776|0.0776	N|N	0.05012|0.05012	-0.13|-0.13	0.53005|0.53005	D|D	0.99996|0.99996	B;B;B|.	0.11235|.	0.004;0.001;0.0|.	B;B;B|.	0.17979|.	0.02;0.006;0.001|.	T|T	0.06110|0.06110	-1.0845|-1.0845	10|5	0.22706|.	T|.	0.39|.	-23.9077|-23.9077	8.6204|8.6204	0.33857|0.33857	0.0:0.6614:0.0:0.3386|0.0:0.6614:0.0:0.3386	.|.	567;154;13|.	P42338;B4DZI3;Q68DL0|.	PK3CB_HUMAN;.;.|.	D|T	567;13;567|199	ENSP00000418143:E567D;ENSP00000438259:E13D;ENSP00000289153:E567D|.	ENSP00000289153:E567D|.	E|R	-|-	3|2	2|0	PIK3CB|PIK3CB	139900508|139900508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	0.750000|0.750000	0.26334|0.26334	1.163000|1.163000	0.42636|0.42636	0.460000|0.460000	0.39030|0.39030	GAG|AGA		0.378	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			21	104	0	0	0	0.049695	0	21	104				
RET	5979	broad.mit.edu	37	10	43606744	43606744	+	Silent	SNP	G	G	A	rs201568301		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:43606744G>A	ENST00000355710.3	+	7	1585	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	RET_ENST00000340058.5_Silent_p.T451T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	451					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACTGCAGCACGCTAGGGGTGG	0.582		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1351-1353)acG>acA		ret proto-oncogene	Sunitinib(DB01268)						126.0	112.0	116.0					10																	43606744		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43606744G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1353G>A	10.37:g.43606744G>A						RET_ENST00000340058.5_Silent_p.T451T	p.T451T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			7	1585	+		Ovarian(717;0.0423)	451					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1353G>A	CCDS7200.1																																																																																				0.582	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		10	67	0	0	0	0.093190	0	10	67				
KCTD8	386617	broad.mit.edu	37	4	44449818	44449818	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667										HNSCC(17;0.042)																												ENST00000360029.3																			1	Substitution - coding silent(1)	p.I241I(1)	lung(1)	central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(721-723)atC>atT		potassium channel tetramerization domain containing 8							33.0	27.0	29.0					4																	44449818		2202	4298	6500	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44449818G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.723C>T	4.37:g.44449818G>A		HNSCC(17;0.042)					p.I241I	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	1006	-			241					A2RU39	Silent	SNP	ENST00000360029.3	37	c.723C>T	CCDS3467.1																																																																																				0.667	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	12	0	0	0	0.009096	0	4	12				
RB1	5925	broad.mit.edu	37	13	48954379	48954379	+	Splice_Site	SNP	T	T	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr13:48954379T>G	ENST00000267163.4	+	16	1636		c.e16+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CATATAGCAGTAAGTTAAATT	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(8)	p.0?(15)|p.?(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CS973319	RB1	S		c.e16+2		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						43.0	45.0	44.0					13																	48954379		2201	4299	6500	SO:0001630	splice_region_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48954379T>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1498+2T>G	13.37:g.48954379T>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)						NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	16	1636	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37		CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.716534	0.89205	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7449	0.77932	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47852380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.456000	0.66665	2.114000	0.64651	0.533000	0.62120	.		0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	4	10	0	0	0	0.009096	0	4	10				
ADAM12	8038	broad.mit.edu	37	10	127726869	127726869	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:127726869G>A	ENST00000368679.4	-	20	2608	c.2299C>T	c.(2299-2301)Cac>Tac	p.H767Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	767					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGGCCGAGGTGAGCCTGACAG	0.587																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2299-2301)Cac>Tac		ADAM metallopeptidase domain 12							48.0	42.0	44.0					10																	127726869		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127726869G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2299C>T	10.37:g.127726869G>A	ENSP00000357668:p.His767Tyr						p.H767Y	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	20	2608	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	767					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.2299C>T	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	2.823	-0.244413	0.05906	.	.	ENSG00000148848	ENST00000368679	T	0.01548	4.78	4.92	3.01	0.34805	.	0.636688	0.14479	N	0.317073	T	0.01421	0.0046	L	0.29908	0.895	0.19575	N	0.999964	B	0.10296	0.003	B	0.06405	0.002	T	0.48080	-0.9066	10	0.02654	T	1	.	8.4063	0.32616	0.082:0.1553:0.7627:0.0	.	767	O43184	ADA12_HUMAN	Y	767	ENSP00000357668:H767Y	ENSP00000357668:H767Y	H	-	1	0	ADAM12	127716859	0.884000	0.30299	0.017000	0.16124	0.095000	0.18619	3.183000	0.50918	0.627000	0.30340	0.585000	0.79938	CAC		0.587	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			3	18	0	0	0	0.009096	0	3	18				
PSMA6	5687	broad.mit.edu	37	14	35786477	35786477	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:35786477G>C	ENST00000261479.4	+	7	826	c.706G>C	c.(706-708)Gat>Cat	p.D236H	PSMA6_ENST00000540871.1_Missense_Mutation_p.D217H|PSMA6_ENST00000553809.1_Missense_Mutation_p.D242H|PSMA6_ENST00000556506.1_Nonstop_Mutation_p.*204S|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000555764.1_Missense_Mutation_p.D157H	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	236					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 NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|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)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AGCAGAGATTGATGCTCACCT	0.373																																						ENST00000556506.1																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(610-612)tGa>tCa		proteasome (prosome, macropain) subunit, alpha type, 6							222.0	207.0	212.0					14																	35786477		2203	4300	6503	SO:0001583	missense	5687				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 NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35786477G>C	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.706G>C	14.37:g.35786477G>C	ENSP00000261479:p.Asp236His					PSMA6_ENST00000540871.1_Missense_Mutation_p.D217H|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.D242H|PSMA6_ENST00000555764.1_Missense_Mutation_p.D157H|PSMA6_ENST00000261479.4_Missense_Mutation_p.D236H	p.*204S			P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	6	615	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		0					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Nonstop_Mutation	SNP	ENST00000261479.4	37	c.611G>C	CCDS9655.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.75|19.75|19.75	3.885091|3.885091|3.885091	0.72410|0.72410|0.72410	.|.|.	.|.|.	ENSG00000100902|ENSG00000100902|ENSG00000100902	ENST00000540871;ENST00000261479;ENST00000553809;ENST00000555764|ENST00000556221|ENST00000556506	T;T;T;T|.|.	0.46819|.|.	0.86;0.86;0.86;0.86|.|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.75539|0.75539|.	0.3863|0.3863|.	M|M|M	0.88842|0.88842|0.88842	2.985|2.985|2.985	0.09310|0.09310|0.09310	N|N|N	1|1|1	D|.|.	0.60575|.|.	0.988|.|.	P|.|.	0.53593|.|.	0.73|.|.	T|T|.	0.70288|0.70288|.	-0.4913|-0.4913|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-10.0435|-10.0435|-10.0435	19.1885|19.1885|19.1885	0.93654|0.93654|0.93654	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	236|.|.	P60900|.|.	PSA6_HUMAN|.|.	H|F|S	217;236;242;157|74|204	ENSP00000444844:D217H;ENSP00000261479:D236H;ENSP00000452603:D242H;ENSP00000452566:D157H|.|.	ENSP00000261479:D236H|.|.	D|L|X	+|+|+	1|3|2	0|2|2	PSMA6|PSMA6|PSMA6	34856228|34856228|34856228	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	8.759000|8.759000|8.759000	0.91667|0.91667|0.91667	2.581000|2.581000|2.581000	0.87130|0.87130|0.87130	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAT|TTG|TGA		0.373	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			29	131	0	0	0	0.054565	0	29	131				
ZNF625	90589	broad.mit.edu	37	19	12258584	12258584	+	5'UTR	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:12258584A>T	ENST00000355738.1	-	0	192				ZNF625-ZNF20_ENST00000430024.1_Missense_Mutation_p.F13I|ZNF625_ENST00000439556.2_Missense_Mutation_p.F13I|ZNF625_ENST00000542938.1_5'UTR|ZNF625_ENST00000455799.1_Missense_Mutation_p.F13I			Q96I27	ZN625_HUMAN	zinc finger protein 625						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCCTGGGTGAAGTTCACATCT	0.473																																						ENST00000430024.1																			0											c.(37-39)Ttc>Atc																																						SO:0001623	5_prime_UTR_variant	100529855							g.chr19:12258584A>T	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.-158T>A	19.37:g.12258584A>T						ZNF625_ENST00000542938.1_5'UTR|ZNF625_ENST00000355738.1_5'UTR|ZNF625_ENST00000455799.1_Missense_Mutation_p.F13I|ZNF625_ENST00000439556.2_Missense_Mutation_p.F13I	p.F13I							2	209	-								A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.37T>A		.	.	.	.	.	.	.	.	.	.	A	22.7	4.326156	0.81580	.	.	ENSG00000257591	ENST00000414892;ENST00000455799;ENST00000439556	T;T;T	0.14640	2.49;2.49;2.49	0.981	0.981	0.19756	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04440	-1.0951	6	0.87932	D	0	.	6.1352	0.20227	1.0:0.0:0.0:0.0	.	.	.	.	I	12;13;13	ENSP00000405156:F12I;ENSP00000398518:F13I;ENSP00000394380:F13I	ENSP00000405156:F12I	F	-	1	0	AC022415.5	12119584	0.993000	0.37304	0.991000	0.47740	0.906000	0.53458	3.535000	0.53575	0.703000	0.31848	0.377000	0.23210	TTC		0.473	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		9	89	0	0	0	0.047766	0	9	89				
EXOSC10	5394	broad.mit.edu	37	1	11151235	11151235	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:11151235G>A	ENST00000376936.4	-	5	528	c.479C>T	c.(478-480)gCa>gTa	p.A160V	EXOSC10_ENST00000304457.7_Splice_Site_p.A160V|EXOSC10_ENST00000544779.1_Splice_Site_p.A160V	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	160					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATATTCTGCTGCCTATGATCA	0.353																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.e5-1		exosome component 10							126.0	124.0	125.0					1																	11151235		2203	4300	6503	SO:0001630	splice_region_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151235G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.478-1C>T	1.37:g.11151235G>A						EXOSC10_ENST00000376936.4_Splice_Site_p.A160_splice|EXOSC10_ENST00000304457.7_Splice_Site_p.A160_splice	p.A160_splice			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	5	484	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	160					B1AKQ0|B1AKQ1|Q15158	Splice_Site	SNP	ENST00000376936.4	37	c.477_splice	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142011	0.77775	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.76	5.76	0.90799	.	0.106561	0.64402	D	0.000005	T	0.60274	0.2256	L	0.47716	1.5	0.58432	D	0.999996	B;B	0.24186	0.099;0.06	B;B	0.28916	0.096;0.034	T	0.54070	-0.8348	9	0.32370	T	0.25	-23.2798	18.9641	0.92689	0.0:0.0:1.0:0.0	.	160;160	Q01780-2;Q01780	.;EXOSX_HUMAN	V	160	.	ENSP00000307307:A160V	A	-	2	0	EXOSC10	11073822	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.312000	0.43726	2.713000	0.92767	0.655000	0.94253	GCA		0.353	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998	Missense_Mutation	14	67	0	0	0	0.132662	0	14	67				
RPP40	10799	broad.mit.edu	37	6	4998960	4998960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:4998960C>T	ENST00000380051.2	-	5	593	c.549G>A	c.(547-549)tgG>tgA	p.W183*	RPP40_ENST00000319533.5_Nonsense_Mutation_p.W160*|RPP40_ENST00000464646.1_Nonsense_Mutation_p.W123*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	183					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CTGTTTTATGCCAAGCCAAAA	0.299																																						ENST00000380051.2																			0				NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14						c.(547-549)tgG>tgA		ribonuclease P/MRP 40kDa subunit							39.0	41.0	40.0					6																	4998960		2186	4277	6463	SO:0001587	stop_gained	10799				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr6:4998960C>T	U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.549G>A	6.37:g.4998960C>T	ENSP00000369391:p.Trp183*					RPP40_ENST00000464646.1_Nonsense_Mutation_p.W123*|RPP40_ENST00000319533.5_Nonsense_Mutation_p.W160*	p.W183*	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN			5	593	-	Ovarian(93;0.11)	all_hematologic(90;0.0895)	183					Q5VX97|Q8WVK8	Nonsense_Mutation	SNP	ENST00000380051.2	37	c.549G>A	CCDS34333.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692203	0.88735	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	.	.	.	5.61	5.61	0.85477	.	0.211830	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-3.9594	18.6454	0.91408	0.0:1.0:0.0:0.0	.	.	.	.	X	183;160;123	.	ENSP00000317998:W160X	W	-	3	0	RPP40	4943959	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.524000	0.67105	2.630000	0.89119	0.650000	0.86243	TGG		0.299	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039733.2	NM_006638		4	21	0	0	0	0.021553	0	4	21				
ADAM10	102	broad.mit.edu	37	15	58925416	58925416	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr15:58925416A>G	ENST00000260408.3	-	9	1598	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.V84V|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	385	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGTTATGTCCAACTTCGTGAG	0.323																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1153-1155)gtT>gtC		ADAM metallopeptidase domain 10							88.0	85.0	86.0					15																	58925416		2192	4292	6484	SO:0001819	synonymous_variant	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925416A>G	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1155T>C	15.37:g.58925416A>G						ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Silent_p.V84V|ADAM10_ENST00000561288.1_Intron	p.V385V	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1598	-			385			Peptidase M12B.		B4DU28|Q10742|Q92650	Silent	SNP	ENST00000260408.3	37	c.1155T>C	CCDS10167.1																																																																																				0.323	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		13	29	0	0	0	0.146539	0	13	29				
LRFN2	57497	broad.mit.edu	37	6	40360590	40360590	+	Missense_Mutation	SNP	C	C	T	rs55706368		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:40360590C>T	ENST00000338305.6	-	3	2004	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	488	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACACAAGTCGTAGCCAGTC	0.597																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1462-1464)Gac>Aac		leucine rich repeat and fibronectin type III domain containing 2							43.0	41.0	42.0					6																	40360590		2203	4299	6502	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360590C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1462G>A	6.37:g.40360590C>T	ENSP00000345985:p.Asp488Asn						p.D488N	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2004	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		488			Fibronectin type-III.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1462G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	25.3	4.619338	0.87460	.	.	ENSG00000156564	ENST00000338305	T	0.55052	0.54	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.66506	2.035	0.80722	D	1	P	0.44478	0.836	P	0.52189	0.692	T	0.59936	-0.7360	10	0.54805	T	0.06	.	17.9744	0.89122	0.0:1.0:0.0:0.0	rs55706368	488	Q9ULH4	LRFN2_HUMAN	N	488	ENSP00000345985:D488N	ENSP00000345985:D488N	D	-	1	0	LRFN2	40468568	1.000000	0.71417	0.996000	0.52242	0.767000	0.43475	7.780000	0.85658	2.584000	0.87258	0.651000	0.88453	GAC		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		4	27	0	0	0	0.014758	0	4	27				
SI	6476	broad.mit.edu	37	3	164750459	164750459	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:164750459T>C	ENST00000264382.3	-	24	2649	c.2587A>G	c.(2587-2589)Aca>Gca	p.T863A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	863	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATGAATGTGTGCACACAATA	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2587-2589)Aca>Gca		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						113.0	104.0	107.0					3																	164750459		2202	4299	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164750459T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2587A>G	3.37:g.164750459T>C	ENSP00000264382:p.Thr863Ala	HNSCC(35;0.089)					p.T863A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			24	2649	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	863			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2587A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	2.882	-0.231559	0.05983	.	.	ENSG00000090402	ENST00000264382	D	0.88975	-2.45	4.88	2.51	0.30379	.	0.346287	0.28977	N	0.013524	T	0.80428	0.4621	L	0.48986	1.54	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59198	-0.7499	10	0.08179	T	0.78	.	5.1335	0.14922	0.1627:0.0895:0.0:0.7478	.	863	P14410	SUIS_HUMAN	A	863	ENSP00000264382:T863A	ENSP00000264382:T863A	T	-	1	0	SI	166233153	0.088000	0.21588	0.037000	0.18230	0.404000	0.30871	0.567000	0.23608	0.962000	0.38057	0.533000	0.62120	ACA		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	64	0	0	0	0.021553	0	6	64				
TTN	7273	broad.mit.edu	37	2	179431566	179431566	+	Silent	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179431566A>T	ENST00000591111.1	-	276	74594	c.74370T>A	c.(74368-74370)atT>atA	p.I24790I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I17558I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.I23863I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.I17491I|TTN_ENST00000460472.2_Silent_p.I17366I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.I26431I			Q8WZ42	TITIN_HUMAN	titin	24790	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATCCATCGAATGCCACTTC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79291-79293)atT>atA		titin							61.0	60.0	60.0					2																	179431566		1873	4111	5984	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431566A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74370T>A	2.37:g.179431566A>T						TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.I17366I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I23863I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I24790I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.I17558I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I17491I|TTN-AS1_ENST00000438095.1_RNA	p.I26431I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79517	-			24790			Fibronectin type-III 92.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.79293T>A																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	70	0	0	0	0.029380	0	5	70				
FAM21EP	100421577	broad.mit.edu	37	10	51808014	51808014	+	RNA	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:51808014G>A	ENST00000456967.1	-	0	1838					NR_038275.1																						GGAGAGCTCGGAGGCTTTTGC	0.448																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51808014G>A																													10.37:g.51808014G>A								NR_038275.1						0	1838	-									RNA	SNP	ENST00000456967.1	37																																																																																						0.448	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			31	118	0	0	0	0.045705	0	31	118				
PQLC1	80148	broad.mit.edu	37	18	77664144	77664144	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:77664144G>C	ENST00000397778.2	-	6	830	c.648C>G	c.(646-648)ttC>ttG	p.F216L	PQLC1_ENST00000357575.4_Missense_Mutation_p.F198L|PQLC1_ENST00000409073.1_Missense_Mutation_p.F133L|PQLC1_ENST00000590381.1_Nonsense_Mutation_p.S126*|PQLC1_ENST00000590895.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	216	PQ-loop 2.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		AGGCCGTCTTGAAGGCGTCAC	0.647																																						ENST00000590381.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(376-378)tCa>tGa		PQ loop repeat containing 1							62.0	59.0	60.0					18																	77664144		2203	4300	6503	SO:0001583	missense	80148					integral to membrane		g.chr18:77664144G>C	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.648C>G	18.37:g.77664144G>C	ENSP00000380880:p.Phe216Leu					PQLC1_ENST00000357575.4_Missense_Mutation_p.F198L|PQLC1_ENST00000397778.2_Missense_Mutation_p.F216L|PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000409073.1_Missense_Mutation_p.F133L	p.S126*	NM_001146343.1	NP_001139815.1	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	4	548	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	0					B7Z7D9|G5E989|Q9H6D0	Nonsense_Mutation	SNP	ENST00000397778.2	37	c.377C>G	CCDS12020.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.24|12.24	1.877846|1.877846	0.33162|0.33162	.|.	.|.	ENSG00000122490|ENSG00000122490	ENST00000397778;ENST00000409073;ENST00000357575|ENST00000351365	D;D;D|.	0.98044|.	-4.68;-4.68;-4.68|.	4.8|4.8	2.61|2.61	0.31194|0.31194	.|.	0.054383|.	0.85682|.	N|.	0.000000|.	T|.	0.70649|.	0.3248|.	M|M	0.75085|0.75085	2.285|2.285	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.29590|.	0.25;0.214|.	B;B|.	0.39094|.	0.29;0.162|.	T|.	0.70673|.	-0.4807|.	10|.	0.36615|0.40728	T|T	0.2|0.16	-30.9135|-30.9135	11.8017|11.8017	0.52130|0.52130	0.1767:0.0:0.8233:0.0|0.1767:0.0:0.8233:0.0	.|.	216;198|.	Q8N2U9;G5E989|.	PQLC1_HUMAN;.|.	L|X	216;133;198|126	ENSP00000380880:F216L;ENSP00000387221:F133L;ENSP00000350188:F198L|.	ENSP00000350188:F198L|ENSP00000315627:S126X	F|S	-|-	3|2	2|0	PQLC1|PQLC1	75765132|75765132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.031000|0.031000	0.12232|0.12232	1.926000|1.926000	0.40084|0.40084	1.018000|1.018000	0.39521|0.39521	-0.140000|-0.140000	0.14226|0.14226	TTC|TCA		0.647	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		14	20	0	0	0	0.146539	0	14	20				
USP47	55031	broad.mit.edu	37	11	11971484	11971484	+	Missense_Mutation	SNP	C	C	T	rs182809869		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:11971484C>T	ENST00000399455.2	+	24	3577	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W	USP47_ENST00000339865.5_Missense_Mutation_p.R1065W|USP47_ENST00000527733.1_Missense_Mutation_p.R1133W|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1153					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACTGTACGGCAATCAAA	0.358													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0					ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(3193-3195)Cgg>Tgg		ubiquitin specific peptidase 47		C	TRP/ARG	0,3722		0,0,1861	131.0	119.0	123.0		3193	4.5	1.0	11		123	1,8195		0,1,4097	no	missense	USP47	NM_017944.3	101	0,1,5958	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	1065/1288	11971484	1,11917	1861	4098	5959	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11971484C>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3457C>T	11.37:g.11971484C>T	ENSP00000382382:p.Arg1153Trp					USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.R1153W|USP47_ENST00000527733.1_Missense_Mutation_p.R1133W	p.R1065W	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	22	3956	+			1153					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.3193C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.3	4.400514	0.83120	0.0	1.22E-4	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	D;D;D	0.94723	-3.5;-3.5;-3.5	5.51	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.99;0.992	D	0.95650	0.8706	10	0.66056	D	0.02	.	15.0909	0.72192	0.1424:0.8576:0.0:0.0	.	1133;1065	E9PM46;Q96K76-2	.;.	W	1065;1133;1153	ENSP00000339957:R1065W;ENSP00000433146:R1133W;ENSP00000382382:R1153W	ENSP00000339957:R1065W	R	+	1	2	USP47	11928060	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.936000	0.56568	2.738000	0.93877	0.655000	0.94253	CGG		0.358	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		7	37	0	0	0	0.038147	0	7	37				
HEATR9	256957	broad.mit.edu	37	17	34190080	34190080	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:34190080C>G	ENST00000311880.2	-	8	823	c.675G>C	c.(673-675)gaG>gaC	p.E225D	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.E185D	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		225					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCTCATTTTTCTCCTTCAGCT	0.537																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(673-675)gaG>gaC		chromosome 17 open reading frame 66							170.0	159.0	163.0					17																	34190080		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34190080C>G																												ENST00000311880.2:c.675G>C	17.37:g.34190080C>G	ENSP00000309560:p.Glu225Asp					C17orf66_ENST00000592980.1_Missense_Mutation_p.E185D	p.E225D	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	8	823	-		Ovarian(249;0.17)	225					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.675G>C	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	2.068	-0.413636	0.04799	.	.	ENSG00000172653	ENST00000311880	T	0.42513	0.97	5.12	0.344	0.16006	Armadillo-like helical (1);Armadillo-type fold (1);	0.618333	0.14495	N	0.316103	T	0.18341	0.0440	N	0.19112	0.55	0.09310	N	0.999993	B;B;B	0.31817	0.218;0.341;0.231	B;B;B	0.32762	0.059;0.152;0.073	T	0.23332	-1.0191	10	0.02654	T	1	.	2.7723	0.05338	0.2037:0.4192:0.0:0.3771	.	191;185;225	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	D	225	ENSP00000309560:E225D	ENSP00000309560:E225D	E	-	3	2	C17orf66	31214193	0.095000	0.21747	0.154000	0.22540	0.232000	0.25224	-0.039000	0.12124	0.241000	0.21283	-0.345000	0.07892	GAG		0.537	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			20	104	0	0	0	0.062417	0	20	104				
MAP2	4133	broad.mit.edu	37	2	210559886	210559886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:210559886C>A	ENST00000360351.4	+	7	3498	c.2992C>A	c.(2992-2994)Caa>Aaa	p.Q998K	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q994K|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	998					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AACCTATGAGCAAGCTTTGGC	0.418																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2992-2994)Caa>Aaa		microtubule-associated protein 2	Estramustine(DB01196)						85.0	82.0	83.0					2																	210559886		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559886C>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2992C>A	2.37:g.210559886C>A	ENSP00000353508:p.Gln998Lys					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.Q994K|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	p.Q998K	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3498	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	998					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2992C>A	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	9.211	1.031016	0.19590	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.21932	1.98;1.98	5.88	1.85	0.25348	MAP2/Tau projection (1);	0.810630	0.11080	N	0.601959	T	0.19644	0.0472	L	0.44542	1.39	0.09310	N	1	B;B	0.20164	0.034;0.042	B;B	0.28385	0.053;0.089	T	0.36578	-0.9742	10	0.07175	T	0.84	-2.1523	15.1345	0.72552	0.1042:0.3486:0.5472:0.0	.	994;998	P11137-3;P11137	.;MAP2_HUMAN	K	998;994	ENSP00000353508:Q998K;ENSP00000392164:Q994K	ENSP00000353508:Q998K	Q	+	1	0	MAP2	210268131	0.000000	0.05858	0.000000	0.03702	0.402000	0.30811	0.928000	0.28831	0.057000	0.16193	0.650000	0.86243	CAA		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	60	1	0	0.000157383	0.038147	0.000159113	8	60				
PLEKHG4	25894	broad.mit.edu	37	16	67318623	67318623	+	Missense_Mutation	SNP	C	C	T	rs368565515		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:67318623C>T	ENST00000360461.5	+	12	4235	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.T567M|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.T486M|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.T567M	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	567							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGGCCTTGACGTGGGCTGAG	0.637																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1699-1701)aCg>aTg		pleckstrin homology domain containing, family G (with RhoGef domain) member 4		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4389		0,1,2194	20.0	22.0	21.0		1700,1700,1700,1457,1700	0.4	0.0	16		21	0,8592		0,0,4296	no	missense,missense,missense,missense,missense	PLEKHG4	NM_001129727.1,NM_001129728.1,NM_001129729.1,NM_001129731.1,NM_015432.3	81,81,81,81,81	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	567/1192,567/1192,567/1192,486/1111,567/1192	67318623	1,12981	2195	4296	6491	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67318623C>T	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1700C>T	16.37:g.67318623C>T	ENSP00000353646:p.Thr567Met					PLEKHG4_ENST00000379344.3_Missense_Mutation_p.T567M|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.T567M|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.T486M	p.T567M	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	12	4235	+			567					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.1700C>T	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	C	3.269	-0.149577	0.06585	2.28E-4	0.0	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.10382	2.88;2.88;2.88;2.91	4.68	0.415	0.16411	.	0.485065	0.15409	N	0.263882	T	0.10981	0.0268	M	0.62723	1.935	0.09310	N	1	B;B	0.25351	0.124;0.037	B;B	0.20577	0.03;0.004	T	0.18587	-1.0332	10	0.56958	D	0.05	.	6.6994	0.23217	0.1247:0.625:0.0:0.2503	.	486;567	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	M	567;567;567;486	ENSP00000353646:T567M;ENSP00000401118:T567M;ENSP00000368649:T567M;ENSP00000398030:T486M	ENSP00000353646:T567M	T	+	2	0	PLEKHG4	65876124	0.001000	0.12720	0.003000	0.11579	0.177000	0.22998	0.149000	0.16243	-0.380000	0.07894	-1.628000	0.00784	ACG		0.637	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		5	28	0	0	0	0.021553	0	5	28				
TEX2	55852	broad.mit.edu	37	17	62238187	62238187	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:62238187C>T	ENST00000583097.1	-	8	2950	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L	TEX2_ENST00000584379.1_Silent_p.L926L|TEX2_ENST00000258991.3_Silent_p.L933L			Q8IWB9	TEX2_HUMAN	testis expressed 2	926					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CTCCAACCTTCAGGGCTTCAA	0.443																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2797-2799)ctG>ctA		testis expressed 2							165.0	176.0	172.0					17																	62238187		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62238187C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2778G>A	17.37:g.62238187C>T						TEX2_ENST00000584379.1_Silent_p.L926L|TEX2_ENST00000583097.1_Silent_p.L926L	p.L933L			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	8	2883	-			926					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.2799G>A																																																																																					0.443	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		54	213	0	0	0	0.139131	0	54	213				
KLK3	354	broad.mit.edu	37	19	51361366	51361366	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:51361366C>A	ENST00000326003.2	+	3	329	c.288C>A	c.(286-288)ttC>ttA	p.F96L	KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.F96L|KLK3_ENST00000360617.3_Missense_Mutation_p.F96L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	96	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCCACAGCTTCCCACACCCGC	0.577																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(286-288)ttC>ttA		kallikrein-related peptidase 3							89.0	74.0	79.0					19																	51361366		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361366C>A	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.288C>A	19.37:g.51361366C>A	ENSP00000314151:p.Phe96Leu					KLK3_ENST00000326003.2_Missense_Mutation_p.F96L|KLK3_ENST00000593997.1_Missense_Mutation_p.F96L|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000595952.1_Intron	p.F96L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	288	+		all_neural(266;0.057)	96			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.288C>A	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404103	0.62288	.	.	ENSG00000142515	ENST00000326003;ENST00000360617;ENST00000326052	D;D	0.87966	-2.32;-2.32	2.14	2.14	0.27477	.	0.186156	0.26499	N	0.024030	D	0.82646	0.5082	L	0.38531	1.155	0.80722	D	1	P;D	0.55172	0.867;0.97	P;P	0.47645	0.496;0.553	T	0.83243	-0.0057	10	0.62326	D	0.03	.	10.3284	0.43807	0.0:1.0:0.0:0.0	.	96;96	Q8NCW4;G3XAE3	.;.	L	96	ENSP00000314151:F96L;ENSP00000353829:F96L	ENSP00000314151:F96L	F	+	3	2	KLK3	56053178	0.001000	0.12720	0.009000	0.14445	0.153000	0.21895	0.171000	0.16685	1.495000	0.48549	0.505000	0.49811	TTC		0.577	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		13	41	1	0	1.49906e-05	0.119110	1.52391e-05	13	41				
KLHDC8A	55220	broad.mit.edu	37	1	205306592	205306592	+	Missense_Mutation	SNP	C	C	T	rs202228818		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:205306592C>T	ENST00000367156.3	-	9	1804	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	330										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCTCCCACGGCGAGGAGGCAG	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(988-990)Gcc>Acc		kelch domain containing 8A							199.0	180.0	186.0					1																	205306592		2203	4300	6503	SO:0001583	missense	55220							g.chr1:205306592C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.988G>A	1.37:g.205306592C>T	ENSP00000356124:p.Ala330Thr					KLHDC8A_ENST00000460687.1_Missense_Mutation_p.A196T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A330T|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.A217T|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A330T	p.A330T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		9	1804	-	Breast(84;0.23)		330					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.988G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178250	0.78564	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253;ENST00000537168	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.43	4.52	0.55395	Kelch-type beta propeller (1);	0.106321	0.64402	N	0.000005	T	0.77003	0.4067	L	0.44542	1.39	0.53688	D	0.999974	D;D	0.69078	0.997;0.981	P;P	0.56042	0.79;0.468	T	0.77247	-0.2658	10	0.45353	T	0.12	-14.2618	14.1046	0.65080	0.0:0.9267:0.0:0.0733	.	217;330	F5H5F1;Q8IYD2	.;KLD8A_HUMAN	T	330;330;330;217	ENSP00000356123:A330T;ENSP00000356124:A330T;ENSP00000442229:A330T;ENSP00000443447:A217T	ENSP00000356123:A330T	A	-	1	0	KLHDC8A	203573215	1.000000	0.71417	0.973000	0.42090	0.426000	0.31534	4.437000	0.59955	1.297000	0.44761	-0.194000	0.12790	GCC		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		32	118	0	0	0	0.074837	0	32	118				
KIF6	221458	broad.mit.edu	37	6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A	rs201860401		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:39513399G>A	ENST00000287152.7	-	11	1341	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_ENST00000538893.1_Missense_Mutation_p.A416V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000373213.4_Missense_Mutation_p.A255V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18854	0.0		0.001	False		,,,				2504	0.0					ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1246-1248)gCg>gTg		kinesin family member 6		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	115.0	116.0		1247	5.6	0.0	6		116	0,8600		0,0,4300	yes	missense	KIF6	NM_145027.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	416/815	39513399	1,13005	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513399G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1247C>T	6.37:g.39513399G>A	ENSP00000287152:p.Ala416Val					KIF6_ENST00000538893.1_Missense_Mutation_p.A416V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000373213.4_Missense_Mutation_p.A255V	p.A416V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			11	1341	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1247C>T	CCDS4844.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.71|12.71	2.019617|2.019617	0.35606|0.35606	2.27E-4|2.27E-4	0.0|0.0	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72615|.	-0.65;-0.64;-0.47;-0.64;-0.67|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.62441|0.62441	0.2428|0.2428	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.46784|.	0.884;0.158;0.297;0.816|.	B;B;B;B|.	0.40506|.	0.331;0.147;0.095;0.124|.	T|T	0.60900|0.60900	-0.7171|-0.7171	9|5	0.28530|.	T|.	0.3|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;416;416;416|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	V|W	416;416;255;416;416|308	ENSP00000287152:A416V;ENSP00000362312:A416V;ENSP00000362309:A255V;ENSP00000362311:A416V;ENSP00000441435:A416V|.	ENSP00000287152:A416V|.	A|R	-|-	2|1	0|2	KIF6|KIF6	39621377|39621377	0.380000|0.380000	0.25131|0.25131	0.019000|0.019000	0.16419|0.16419	0.304000|0.304000	0.27724|0.27724	5.193000|5.193000	0.65120|0.65120	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		7	83	0	0	0	0.047766	0	7	83				
RASA4B	100271927	broad.mit.edu	37	7	102136619	102136619	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:102136619G>C	ENST00000465829.1	-	11	1109	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000541662.1_Missense_Mutation_p.L347V|RASA4B_ENST00000306682.6_Missense_Mutation_p.L275V			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	347	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			skin(1)	1						TTTGAGGCCAGAGAGTTGCTC	0.537																																						ENST00000481893.1																			0				skin(1)	1						c.(823-825)Ctg>Gtg		RAS p21 protein activator 4B																																				SO:0001583	missense	100271927							g.chr7:102136619G>C		CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1039C>G	7.37:g.102136619G>C	ENSP00000417895:p.Leu347Val					RASA4B_ENST00000306682.6_Missense_Mutation_p.L275V|RASA4B_ENST00000541662.1_Missense_Mutation_p.L347V|RASA4B_ENST00000465829.1_Missense_Mutation_p.L347V	p.L275V							16	1947	-									Missense_Mutation	SNP	ENST00000465829.1	37	c.823C>G		.	.	.	.	.	.	.	.	.	.	.	15.44	2.835056	0.50951	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	4.05	3.07	0.35406	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.49916	D	0.000136	D	0.86112	0.5855	M	0.67397	2.05	0.46901	D	0.999242	D;D;D	0.65815	0.994;0.995;0.989	D;P;P	0.64410	0.925;0.861;0.869	D	0.87432	0.2389	10	0.87932	D	0	.	11.7291	0.51726	0.0:0.0:0.823:0.177	.	275;347;347	F8W6L0;F5GXT2;C9J798	.;.;RAS4B_HUMAN	V	347;347;275;275	ENSP00000440982:L347V;ENSP00000417895:L347V;ENSP00000419967:L275V;ENSP00000303968:L275V	ENSP00000303968:L275V	L	-	1	2	RASA4B	101923624	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	3.871000	0.56077	1.978000	0.57642	0.455000	0.32223	CTG		0.537	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000059600.6	XM_003118600		18	240	0	0	0	0.062417	0	18	240				
ZNRF1	84937	broad.mit.edu	37	16	75146543	75146543	+	IGR	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:75146543C>T	ENST00000335325.4	+	0	4620				LDHD_ENST00000300051.4_Missense_Mutation_p.E439K|LDHD_ENST00000450168.2_Missense_Mutation_p.E416K|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						CCCAGTTCCTCGGCGTCATCA	0.602																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(1315-1317)Gag>Aag		lactate dehydrogenase D							63.0	53.0	57.0					16																	75146543		2198	4300	6498	SO:0001628	intergenic_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75146543C>T	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75146543C>T						LDHD_ENST00000450168.2_Missense_Mutation_p.E416K	p.E439K	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN			10	1361	-			439					D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	37	c.1315G>A	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624778	0.28889	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.89939	-2.59;-2.59	5.51	3.54	0.40534	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.300341	0.35772	N	0.002998	T	0.82010	0.4944	L	0.39326	1.205	0.39389	D	0.966387	B;B	0.18166	0.012;0.026	B;B	0.16722	0.009;0.016	T	0.75093	-0.3439	10	0.44086	T	0.13	-18.8361	6.6962	0.23201	0.0:0.6985:0.1475:0.1541	.	416;439	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	K	416;439	ENSP00000417011:E416K;ENSP00000300051:E439K	ENSP00000300051:E439K	E	-	1	0	LDHD	73704044	0.784000	0.28713	0.056000	0.19401	0.022000	0.10575	2.074000	0.41529	0.677000	0.31305	0.563000	0.77884	GAG		0.602	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2			10	39	0	0	0	0.080935	0	10	39				
RGS3	5998	broad.mit.edu	37	9	116353615	116353615	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:116353615G>T	ENST00000374140.2	+	22	3227	c.3018G>T	c.(3016-3018)atG>atT	p.M1006I	RGS3_ENST00000394646.3_Missense_Mutation_p.M399I|RGS3_ENST00000462143.1_Missense_Mutation_p.M327I|RGS3_ENST00000350696.5_Missense_Mutation_p.M1006I|RGS3_ENST00000343817.5_Missense_Mutation_p.M725I|RGS3_ENST00000374134.3_Missense_Mutation_p.M327I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462403.1_5'Flank|RP11-168K11.2_ENST00000428429.1_RNA	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1006					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCCGCAGATGAGCGGGGCTG	0.572																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3016-3018)atG>atT		regulator of G-protein signaling 3							93.0	82.0	86.0					9																	116353615		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353615G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3018G>T	9.37:g.116353615G>T	ENSP00000363255:p.Met1006Ile					RGS3_ENST00000462143.1_Missense_Mutation_p.M327I|RGS3_ENST00000374134.3_Missense_Mutation_p.M327I|RGS3_ENST00000394646.3_Missense_Mutation_p.M399I|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.M725I|RGS3_ENST00000350696.5_Missense_Mutation_p.M1006I	p.M1006I	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			22	3227	+			1006					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3018G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	6.856	0.527311	0.13066	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.76060	0.99;0.99;0.49;2.64;0.47;0.47;-0.99	4.95	4.05	0.47172	.	0.368258	0.27896	N	0.017408	T	0.61110	0.2321	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;B;B	0.23735	0.001;0.09;0.001;0.001;0.0;0.001;0.001	B;B;B;B;B;B;B	0.18263	0.001;0.021;0.003;0.002;0.003;0.001;0.001	T	0.57165	-0.7858	10	0.41790	T	0.15	.	10.612	0.45427	0.0908:0.0:0.9092:0.0	.	345;399;902;327;725;896;1006	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	I	1006;1006;725;399;174;327;327;172	ENSP00000363255:M1006I;ENSP00000259406:M1006I;ENSP00000340284:M725I;ENSP00000378141:M399I;ENSP00000420356:M327I;ENSP00000363249:M327I;ENSP00000417994:M172I	ENSP00000340284:M725I	M	+	3	0	RGS3	115393436	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	1.903000	0.39858	1.093000	0.41377	-0.263000	0.10527	ATG		0.572	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		8	52	1	0	3.09899e-07	0.047766	3.18555e-07	8	52				
MLEC	9761	broad.mit.edu	37	12	121125205	121125205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:121125205G>A	ENST00000228506.3	+	1	534	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	MLEC_ENST00000412616.2_Missense_Mutation_p.V36M	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	36					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CGTggccggcgtggccggcgc	0.746																																						ENST00000228506.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(106-108)Gtg>Atg		malectin							5.0	7.0	7.0					12																	121125205		1849	3819	5668	SO:0001583	missense	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121125205G>A	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.106G>A	12.37:g.121125205G>A	ENSP00000228506:p.Val36Met					MLEC_ENST00000412616.2_Missense_Mutation_p.V36M	p.V36M	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			1	534	+			36						Missense_Mutation	SNP	ENST00000228506.3	37	c.106G>A	CCDS9206.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890291	0.52014	.	.	ENSG00000110917	ENST00000228506;ENST00000412616	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	T	0.13927	0.0337	N	0.08118	0	0.28001	N	0.935274	P	0.44006	0.824	B	0.29176	0.099	T	0.04551	-1.0943	8	0.44086	T	0.13	.	12.9446	0.58365	0.0:0.1635:0.8365:0.0	.	36	Q14165	MLEC_HUMAN	M	36	.	ENSP00000228506:V36M	V	+	1	0	MLEC	119609588	0.965000	0.33210	1.000000	0.80357	0.372000	0.29890	0.337000	0.19841	2.663000	0.90544	0.561000	0.74099	GTG		0.746	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		4	6	0	0	0	0.009096	0	4	6				
PCDHGA1	56114	broad.mit.edu	37	5	140710925	140710925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140710925C>T	ENST00000517417.1	+	1	674	c.674C>T	c.(673-675)aCc>aTc	p.T225I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T225I|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCAGGGACCCTCAGAATT	0.507																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(673-675)aCc>aTc									62.0	59.0	60.0					5																	140710925		2203	4300	6503	SO:0001583	missense	56114							g.chr5:140710925C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.674C>T	5.37:g.140710925C>T	ENSP00000431083:p.Thr225Ile					PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T225I	p.T225I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	674	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.674C>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751592	0.49257	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.56444	0.46;0.46	4.2	3.33	0.38152	Cadherin (4);Cadherin-like (1);	0.134947	0.33691	N	0.004649	T	0.69815	0.3153	H	0.96970	3.915	0.29426	N	0.860206	P;B	0.47910	0.902;0.285	B;P	0.44811	0.444;0.461	T	0.76410	-0.2969	10	0.72032	D	0.01	.	14.1088	0.65109	0.0:0.8484:0.1516:0.0	.	225;225	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	I	225	ENSP00000431083:T225I;ENSP00000367345:T225I	ENSP00000367345:T225I	T	+	2	0	PCDHGA1	140691109	0.854000	0.29725	0.874000	0.34290	0.860000	0.49131	2.046000	0.41260	1.123000	0.41961	0.655000	0.94253	ACC		0.507	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		16	49	0	0	0	0.132662	0	16	49				
FAM178A	55719	broad.mit.edu	37	10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:102683830G>C	ENST00000238961.4	+	5	1614	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	358						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAAGCAAGAGAGTCCTTCCT	0.398																																						ENST00000238961.3																			0											c.(1072-1074)Gag>Cag		family with sequence similarity 178, member A							54.0	55.0	55.0					10																	102683830		2203	4300	6503	SO:0001583	missense	55719							g.chr10:102683830G>C	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1072G>C	10.37:g.102683830G>C	ENSP00000238961:p.Glu358Gln					FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q	p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			5	1220	+			358					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	c.1072G>C	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181054	0.57800	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.60920	0.15;0.81;0.79	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000035	T	0.64907	0.2641	L	0.27053	0.805	0.33579	D	0.599636	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.87578	0.998;0.996;0.996;0.994	T	0.71830	-0.4474	10	0.54805	T	0.06	-17.7197	15.3459	0.74337	0.0:0.0:1.0:0.0	.	7;358;358;358	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	Q	358	ENSP00000359294:E358Q;ENSP00000238961:E358Q;ENSP00000359292:E358Q	ENSP00000238961:E358Q	E	+	1	0	FAM178A	102673820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.311000	0.65786	2.902000	0.99343	0.650000	0.86243	GAG		0.398	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			9	48	0	0	0	0.069234	0	9	48				
RAPGEF3	10411	broad.mit.edu	37	12	48131465	48131465	+	Missense_Mutation	SNP	G	G	A	rs528517741	byFrequency	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:48131465G>A	ENST00000449771.2	-	28	2745	c.2657C>T	c.(2656-2658)tCg>tTg	p.S886L	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S886L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S844L|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.S844L|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S844L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S777L			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	886	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GGACTGCTCCGAGCCTGGTGG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		17004	0.002		0.0	False		,,,				2504	0.0					ENST00000405493.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25						c.(2530-2532)tCg>tTg		Rap guanine nucleotide exchange factor (GEF) 3							39.0	38.0	38.0					12																	48131465		2203	4300	6503	SO:0001583	missense	10411				regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity	g.chr12:48131465G>A	AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2657C>T	12.37:g.48131465G>A	ENSP00000395708:p.Ser886Leu					RAPGEF3_ENST00000389212.3_Missense_Mutation_p.S886L|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.S886L|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.S844L|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.S777L|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.S844L	p.S844L	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN		GBM - Glioblastoma multiforme(48;0.0375)	28	2740	-	Lung SC(27;0.192)		844					A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	ENST00000449771.2	37	c.2531C>T	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285296	0.95517	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.71222	-0.38;-0.39;-0.38;-0.38;-0.39;-0.55	5.29	5.29	0.74685	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.250921	0.33180	N	0.005189	T	0.69824	0.3154	N	0.08118	0	0.58432	D	0.999997	D	0.89917	1.0	D	0.66716	0.946	T	0.76990	-0.2754	10	0.66056	D	0.02	.	16.416	0.83738	0.0:0.0:1.0:0.0	.	886	O95398	RPGF3_HUMAN	L	844;886;533;844;844;844;886;831;777	ENSP00000384521:S844L;ENSP00000395708:S886L;ENSP00000448619:S844L;ENSP00000171000:S844L;ENSP00000373864:S886L;ENSP00000448480:S777L	ENSP00000171000:S844L	S	-	2	0	RAPGEF3	46417732	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.658000	0.91110	2.483000	0.83821	0.561000	0.74099	TCG		0.602	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	NM_006105		8	25	0	0	0	0.069234	0	8	25				
VMO1	284013	broad.mit.edu	37	17	4688867	4688867	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:4688867G>A	ENST00000328739.5	-	3	478	c.399C>T	c.(397-399)ctC>ctT	p.L133L	VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	133						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TGTTGTCACCGAGGGTCGTGG	0.642																																						ENST00000328739.5																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(397-399)ctC>ctT		vitelline membrane outer layer 1 homolog (chicken)							70.0	61.0	64.0					17																	4688867		2203	4300	6503	SO:0001819	synonymous_variant	284013				vitelline membrane formation	extracellular region		g.chr17:4688867G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.399C>T	17.37:g.4688867G>A						VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000441199.2_3'UTR|VMO1_ENST00000416307.2_3'UTR	p.L133L	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN			3	478	-			133					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Silent	SNP	ENST00000328739.5	37	c.399C>T	CCDS11055.1																																																																																				0.642	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		6	23	0	0	0	0.021553	0	6	23				
ADAM32	203102	broad.mit.edu	37	8	39022696	39022696	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:39022696G>A	ENST00000379907.4	+	9	941	c.814G>A	c.(814-816)Gat>Aat	p.D272N	ADAM32_ENST00000519315.1_Missense_Mutation_p.D272N|ADAM32_ENST00000437682.2_Missense_Mutation_p.D279N	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	272	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					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)			AAGGCCTCATGATATTGCATA	0.289																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(814-816)Gat>Aat		ADAM metallopeptidase domain 32							59.0	55.0	57.0					8																	39022696		1806	4061	5867	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39022696G>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.814G>A	8.37:g.39022696G>A	ENSP00000369238:p.Asp272Asn					ADAM32_ENST00000519315.1_Missense_Mutation_p.D272N|ADAM32_ENST00000437682.2_Missense_Mutation_p.D279N	p.D272N	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)		9	941	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	272			Peptidase M12B.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.814G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127764	0.77549	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907;ENST00000399826	T;T;T	0.72615	-0.67;-0.67;2.26	4.91	4.91	0.64330	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.34628	N	0.003810	D	0.88115	0.6350	H	0.95224	3.64	0.38998	D	0.959294	D;D;D	0.76494	0.997;0.999;0.989	D;D;P	0.80764	0.986;0.994;0.897	D	0.92011	0.5618	10	0.87932	D	0	.	13.9547	0.64140	0.0:0.0:1.0:0.0	.	279;272;272	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	N	279;272;272;273	ENSP00000405978:D279N;ENSP00000429422:D272N;ENSP00000369238:D272N	ENSP00000369238:D272N	D	+	1	0	ADAM32	39141853	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.590000	0.53979	2.416000	0.81992	0.561000	0.74099	GAT		0.289	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		5	27	0	0	0	0.014758	0	5	27				
LMO4	8543	broad.mit.edu	37	1	87805751	87805751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:87805751C>T	ENST00000370544.5	+	4	1135	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LMO4_ENST00000370542.1_Missense_Mutation_p.R119W|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	119	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		CTCTACCTGCCGGAATCGCCT	0.393																																						ENST00000370544.5																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9						c.(355-357)Cgg>Tgg		LIM domain only 4							168.0	160.0	163.0					1																	87805751		2203	4300	6503	SO:0001583	missense	8543				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr1:87805751C>T	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.355C>T	1.37:g.87805751C>T	ENSP00000359575:p.Arg119Trp					LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.R119W	p.R119W	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)	4	1135	+		Lung NSC(277;0.179)	119			LIM zinc-binding 2.		D3DT23|O00158|O88894	Missense_Mutation	SNP	ENST00000370544.5	37	c.355C>T	CCDS713.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333325	0.81801	.	.	ENSG00000143013	ENST00000370544;ENST00000370542	D;D	0.87966	-2.32;-2.32	5.71	5.71	0.89125	Zinc finger, LIM-type (5);	0.051532	0.85682	D	0.000000	D	0.93514	0.7930	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.93281	0.6660	10	0.72032	D	0.01	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	119	P61968	LMO4_HUMAN	W	119	ENSP00000359575:R119W;ENSP00000359573:R119W	ENSP00000359573:R119W	R	+	1	2	LMO4	87578339	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.776000	0.85560	2.861000	0.98227	0.650000	0.86243	CGG		0.393	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769		28	113	0	0	0	0.050027	0	28	113				
SMAD1	4086	broad.mit.edu	37	4	146467854	146467854	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr4:146467854G>A	ENST00000515385.1	+	5	1317		c.e5-1		SMAD1_ENST00000394092.2_Splice_Site|SMAD1_ENST00000302085.4_Splice_Site			Q15797	SMAD1_HUMAN	SMAD family member 1						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.?(2)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CTTTCCTCTAGATGTTCAGGC	0.448																																					Pancreas(182;1287 2092 10326 35158 50562)	ENST00000515385.1																			2	Unknown(2)	p.?(2)	lung(2)	endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17						c.e5-1		SMAD family member 1							165.0	161.0	162.0					4																	146467854		2203	4300	6503	SO:0001630	splice_region_variant	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146467854G>A	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.776-1G>A	4.37:g.146467854G>A						SMAD1_ENST00000394092.2_Splice_Site|SMAD1_ENST00000302085.4_Splice_Site				Q15797	SMAD1_HUMAN			5	1317	+	all_hematologic(180;0.151)							A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Splice_Site	SNP	ENST00000515385.1	37		CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854379	0.51270	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMAD1	146687304	1.000000	0.71417	0.995000	0.50966	0.379000	0.30106	9.869000	0.99810	2.830000	0.97506	0.585000	0.79938	.		0.448	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900	Intron	40	103	0	0	0	0.111260	0	40	103				
IRF2BP1	26145	broad.mit.edu	37	19	46388584	46388584	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:46388584G>A	ENST00000302165.3	-	1	792	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGCCCTTCGCGCCCCCTCAGC	0.716																																						ENST00000302165.3																			0				cervix(1)|kidney(1)|lung(2)	4						c.(448-450)gCg>gTg		interferon regulatory factor 2 binding protein 1							15.0	16.0	16.0					19																	46388584		2190	4267	6457	SO:0001583	missense	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388584G>A	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.449C>T	19.37:g.46388584G>A	ENSP00000307265:p.Ala150Val						p.A150V	NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	792	-		all_neural(266;0.113)|Ovarian(192;0.127)	150					Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Missense_Mutation	SNP	ENST00000302165.3	37	c.449C>T	CCDS12678.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627909	0.46944	.	.	ENSG00000170604	ENST00000302165	T	0.44083	0.93	4.47	4.47	0.54385	.	0.187541	0.35207	U	0.003364	T	0.24699	0.0599	N	0.22421	0.69	0.38104	D	0.937346	P	0.42010	0.768	B	0.33521	0.165	T	0.12941	-1.0528	10	0.13108	T	0.6	.	14.6658	0.68907	0.0:0.0:1.0:0.0	.	150	Q8IU81	I2BP1_HUMAN	V	150	ENSP00000307265:A150V	ENSP00000307265:A150V	A	-	2	0	IRF2BP1	51080424	0.865000	0.29922	0.995000	0.50966	0.959000	0.62525	2.831000	0.48144	2.306000	0.77630	0.462000	0.41574	GCG		0.716	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		6	16	0	0	0	0.029380	0	6	16				
KCNK13	56659	broad.mit.edu	37	14	90650902	90650902	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:90650902A>G	ENST00000282146.4	+	2	1223	c.782A>G	c.(781-783)aAc>aGc	p.N261S		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	261					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCTTTGCCAACTTCGTCTTC	0.493																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(781-783)aAc>aGc		potassium channel, subfamily K, member 13							118.0	107.0	111.0					14																	90650902		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650902A>G	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.782A>G	14.37:g.90650902A>G	ENSP00000282146:p.Asn261Ser						p.N261S	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	1223	+		all_cancers(154;0.186)	261					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.782A>G	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141003	0.77775	.	.	ENSG00000152315	ENST00000282146	T	0.27720	1.65	5.42	5.42	0.78866	Ion transport 2 (1);	0.000000	0.45126	D	0.000396	T	0.41236	0.1150	L	0.37466	1.105	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.14811	-1.0459	10	0.06625	T	0.88	.	15.448	0.75248	1.0:0.0:0.0:0.0	.	261	Q9HB14	KCNKD_HUMAN	S	261	ENSP00000282146:N261S	ENSP00000282146:N261S	N	+	2	0	KCNK13	89720655	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.315000	0.96313	2.050000	0.60909	0.533000	0.62120	AAC		0.493	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		23	81	0	0	0	0.069288	0	23	81				
TOR4A	54863	broad.mit.edu	37	9	140174030	140174030	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:140174030G>A	ENST00000357503.2	+	2	1085	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	297					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										CGCCATCTACGTGCTCCTCAG	0.716																																						ENST00000357503.2																			0											c.(889-891)Gtg>Atg		torsin family 4, member A							14.0	14.0	14.0					9																	140174030		2185	4277	6462	SO:0001583	missense	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140174030G>A	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.889G>A	9.37:g.140174030G>A	ENSP00000350102:p.Val297Met						p.V297M	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	1085	+			297					A2BFA4	Missense_Mutation	SNP	ENST00000357503.2	37	c.889G>A	CCDS7041.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629095	0.67015	.	.	ENSG00000198113	ENST00000357503	T	0.61040	0.14	4.99	4.99	0.66335	ATPase, AAA+ type, core (1);	0.169196	0.38720	N	0.001583	T	0.65270	0.2675	L	0.59436	1.845	0.38029	D	0.93511	D	0.76494	0.999	P	0.59703	0.862	T	0.71244	-0.4650	10	0.87932	D	0	-7.4156	7.8177	0.29269	0.1786:0.0:0.8214:0.0	.	297	Q9NXH8	CI167_HUMAN	M	297	ENSP00000350102:V297M	ENSP00000350102:V297M	V	+	1	0	C9orf167	139293851	0.013000	0.17824	0.985000	0.45067	0.525000	0.34531	1.174000	0.31932	2.275000	0.75901	0.655000	0.94253	GTG		0.716	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		3	13	0	0	0	0.009096	0	3	13				
PCDHA1	56147	broad.mit.edu	37	5	140165875	140165875	+	5'Flank	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140165875A>G	ENST00000504120.2	+	0	0				PCDHA1_ENST00000394633.3_5'Flank|PCDHA1_ENST00000378133.3_5'Flank	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTTTTGCAATGGTGTTTT	0.483																																						ENST00000378133.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.e1-1									85.0	103.0	97.0					5																	140165875		2203	4300	6503	SO:0001631	upstream_gene_variant	56147							g.chr5:140165875A>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3			5.37:g.140165875A>G	Exception_encountered					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron		NM_031410.1	NP_113598.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	0	+								O75288|Q9NRT7	Splice_Site	SNP	ENST00000504120.2	37		CCDS54913.1																																																																																				0.483	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		29	150	0	0	0	0.064281	0	29	150				
BDH1	622	broad.mit.edu	37	3	197241274	197241274	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:197241274G>A	ENST00000392378.2	-	6	733	c.423C>T	c.(421-423)ctC>ctT	p.L141L	BDH1_ENST00000441275.1_Silent_p.L54L|BDH1_ENST00000392379.1_Silent_p.L141L|BDH1_ENST00000358186.2_Silent_p.L141L	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	141					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CATTGTTAACGAGGCCCCACA	0.587																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(421-423)ctC>ctT		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						127.0	114.0	118.0					3																	197241274		2203	4300	6503	SO:0001819	synonymous_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197241274G>A	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.423C>T	3.37:g.197241274G>A						BDH1_ENST00000441275.1_Silent_p.L54L|BDH1_ENST00000392378.2_Silent_p.L141L|BDH1_ENST00000358186.2_Silent_p.L141L	p.L141L	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	824	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	141					D3DXC0|Q96ET1|Q9BRZ4	Silent	SNP	ENST00000392378.2	37	c.423C>T	CCDS3328.1																																																																																				0.587	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		13	211	0	0	0	0.119110	0	13	211				
RXRG	6258	broad.mit.edu	37	1	165398095	165398095	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:165398095G>C	ENST00000359842.5	-	2	460	c.158C>G	c.(157-159)cCa>cGa	p.P53R		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	53	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CAGAGTCCGTGGGGCACTCAC	0.617																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(157-159)cCa>cGa		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						62.0	59.0	60.0					1																	165398095		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398095G>C	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.158C>G	1.37:g.165398095G>C	ENSP00000352900:p.Pro53Arg						p.P53R	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			2	460	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		53			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.158C>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446843	0.63178	.	.	ENSG00000143171	ENST00000359842	D	0.92299	-3.01	4.71	4.71	0.59529	.	0.125321	0.36665	N	0.002476	D	0.87257	0.6132	L	0.50333	1.59	0.44843	D	0.997853	P	0.43542	0.81	B	0.40375	0.327	D	0.90044	0.4144	9	0.66056	D	0.02	.	16.4144	0.83729	0.0:0.0:1.0:0.0	.	53	P48443	RXRG_HUMAN	R	53	ENSP00000352900:P53R	ENSP00000352900:P53R	P	-	2	0	RXRG	163664719	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.641000	0.83368	2.436000	0.82500	0.561000	0.74099	CCA		0.617	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		9	31	0	0	0	0.047766	0	9	31				
NRF1	4899	broad.mit.edu	37	7	129367082	129367082	+	Splice_Site	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:129367082G>A	ENST00000393232.1	+	10	1342	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	NRF1_ENST00000393231.3_Splice_Site_p.E409K|NRF1_ENST00000539636.1_Splice_Site_p.E248K|NRF1_ENST00000223190.4_Splice_Site_p.E409K|NRF1_ENST00000353868.4_Splice_Site_p.E343K|NRF1_ENST00000393230.2_Splice_Site_p.E409K|NRF1_ENST00000311967.2_Splice_Site_p.E409K	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	409	Required for transcriptional activation.				cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)	p.E409K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						TGCCCGCAGCGAAGCTGCCGC	0.577																																						ENST00000393232.1																			1	Substitution - Missense(1)	p.E409K(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						c.e10-1		nuclear respiratory factor 1							38.0	37.0	37.0					7																	129367082		2203	4300	6503	SO:0001630	splice_region_variant	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129367082G>A	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.1224-1G>A	7.37:g.129367082G>A						NRF1_ENST00000223190.4_Splice_Site_p.E409_splice|NRF1_ENST00000311967.2_Splice_Site_p.E409_splice|NRF1_ENST00000353868.4_Splice_Site_p.E343_splice|NRF1_ENST00000393231.3_Splice_Site_p.E409_splice|NRF1_ENST00000539636.1_Splice_Site_p.E248_splice|NRF1_ENST00000393230.2_Splice_Site_p.E409_splice	p.E409_splice	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN			10	1342	+			409			Required for transcriptional activation.		A8K4C6|B4DDV6|Q15305|Q96AN2	Splice_Site	SNP	ENST00000393232.1	37	c.1223_splice	CCDS5813.2	.	.	.	.	.	.	.	.	.	.	G	35	5.581454	0.96565	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	L	0.34521	1.04	0.80722	D	1	D;D	0.63046	0.99;0.992	P;D	0.65443	0.603;0.935	T	0.64884	-0.6302	9	0.45353	T	0.12	2.2433	19.5674	0.95401	0.0:0.0:1.0:0.0	.	409;409	Q96AN2;Q16656	.;NRF1_HUMAN	K	409;343;248;409;409;409;409	.	ENSP00000223190:E409K	E	+	1	0	NRF1	129154318	1.000000	0.71417	0.983000	0.44433	0.777000	0.43975	9.151000	0.94674	2.873000	0.98535	0.561000	0.74099	GAA		0.577	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110	Missense_Mutation	5	38	0	0	0	0.029380	0	5	38				
LHX4	89884	broad.mit.edu	37	1	180240979	180240979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:180240979C>T	ENST00000263726.2	+	5	860	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	206					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGTTTGGTTTCAGAACAGAAG	0.607																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(616-618)Cag>Tag		LIM homeobox 4							79.0	91.0	87.0					1																	180240979		2203	4300	6503	SO:0001587	stop_gained	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180240979C>T	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.616C>T	1.37:g.180240979C>T	ENSP00000263726:p.Gln206*					RP5-1180C10.2_ENST00000415414.1_RNA	p.Q206*	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			5	860	+			206					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Nonsense_Mutation	SNP	ENST00000263726.2	37	c.616C>T	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	C	38	7.111553	0.98070	.	.	ENSG00000121454	ENST00000263726	.	.	.	5.59	5.59	0.84812	.	0.060023	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3679	0.90398	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000263726:Q206X	Q	+	1	0	LHX4	178507602	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.689000	0.84165	2.631000	0.89168	0.561000	0.74099	CAG		0.607	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		25	113	0	0	0	0.076483	0	25	113				
KIR3DL3	115653	broad.mit.edu	37	19	55239242	55239242	+	Missense_Mutation	SNP	C	C	T	rs367886097		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:55239242C>T	ENST00000291860.1	+	4	539	c.521C>T	c.(520-522)gCg>gTg	p.A174V	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A174V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCACGATGCGGGTTCCCAG	0.547																																						ENST00000291860.1																			1	Substitution - Missense(1)	p.A174V(1)	ovary(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21						c.(520-522)gCg>gTg		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3		C	VAL/ALA	1,3955		0,1,1977	105.0	88.0	95.0		521	-2.8	0.0	19		95	0,6878		0,0,3439	no	missense	KIR3DL3	NM_153443.3	64	0,1,5416	TT,TC,CC		0.0,0.0253,0.0092	possibly-damaging	174/411	55239242	1,10833	1978	3439	5417	SO:0001583	missense	115653					integral to membrane|plasma membrane	receptor activity	g.chr19:55239242C>T	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.521C>T	19.37:g.55239242C>T	ENSP00000291860:p.Ala174Val					KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	p.A174V	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	539	+			174			Ig-like C2-type 2.		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	ENST00000291860.1	37	c.521C>T	CCDS12903.1	.	.	.	.	.	.	.	.	.	.	N	10.75	1.439250	0.25900	2.53E-4	0.0	ENSG00000242019	ENST00000291860	T	0.02787	4.16	1.38	-2.75	0.05914	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02807	0.0084	L	0.31664	0.95	0.09310	N	1	D	0.57571	0.98	P	0.46389	0.515	T	0.36407	-0.9749	9	0.87932	D	0	.	4.6375	0.12531	0.1785:0.2293:0.5921:0.0	.	174	Q8N743	KI3L3_HUMAN	V	174	ENSP00000291860:A174V	ENSP00000291860:A174V	A	+	2	0	KIR3DL3	59931054	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	-0.073000	0.11468	-0.758000	0.04690	-2.628000	0.00155	GCG		0.547	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443		62	41	0	0	0	0.139131	0	62	41				
PLCB1	23236	broad.mit.edu	37	20	8719969	8719969	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr20:8719969T>C	ENST00000338037.6	+	21	2297	c.2270T>C	c.(2269-2271)aTt>aCt	p.I757T	PLCB1_ENST00000378641.3_Missense_Mutation_p.I757T|PLCB1_ENST00000378637.2_Missense_Mutation_p.I757T|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	757	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGTAAATTCATTGGCCACCGT	0.418																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(2269-2271)aTt>aCt		phospholipase C, beta 1 (phosphoinositide-specific)							105.0	102.0	103.0					20																	8719969		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8719969T>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2270T>C	20.37:g.8719969T>C	ENSP00000338185:p.Ile757Thr					PLCB1_ENST00000338037.6_Missense_Mutation_p.I757T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.I757T	p.I757T	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			21	2745	+			757			C2.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2270T>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390321	0.82902	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.02	5.02	0.67125	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.84082	2.675	0.80722	D	1	B;D	0.67145	0.258;0.996	B;D	0.74023	0.301;0.982	T	0.52162	-0.8612	10	0.87932	D	0	.	14.7716	0.69684	0.0:0.0:0.0:1.0	.	757;757	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	T	757;757;757;677;677;103;76	ENSP00000367908:I757T;ENSP00000338185:I757T;ENSP00000367904:I757T;ENSP00000391162:I76T	ENSP00000338185:I757T	I	+	2	0	PLCB1	8667969	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	7.969000	0.87988	1.901000	0.55032	0.528000	0.53228	ATT		0.418	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			13	69	0	0	0	0.105934	0	13	69				
NPHP4	261734	broad.mit.edu	37	1	5935081	5935081	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:5935081C>A	ENST00000378156.4	-	21	3162	c.2897G>T	c.(2896-2898)aGc>aTc	p.S966I	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	966					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCGATGCTCTCGGCCTT	0.642																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2896-2898)aGc>aTc		nephronophthisis 4							74.0	91.0	85.0					1																	5935081		2195	4280	6475	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5935081C>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2897G>T	1.37:g.5935081C>A	ENSP00000367398:p.Ser966Ile					NPHP4_ENST00000478423.2_5'UTR	p.S966I	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	21	3162	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	966					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.2897G>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	c	5.375	0.254475	0.10185	.	.	ENSG00000131697	ENST00000378156	D	0.87334	-2.24	4.88	1.9	0.25705	.	0.893093	0.09864	N	0.745764	T	0.80581	0.4650	L	0.44542	1.39	0.23043	N	0.998382	B	0.33919	0.432	B	0.29077	0.098	T	0.65100	-0.6250	10	0.33141	T	0.24	.	9.8119	0.40828	0.0:0.7679:0.0:0.2321	.	966	O75161	NPHP4_HUMAN	I	966	ENSP00000367398:S966I	ENSP00000367398:S966I	S	-	2	0	NPHP4	5857668	0.975000	0.34042	0.397000	0.26308	0.102000	0.19082	0.572000	0.23684	0.466000	0.27193	0.550000	0.68814	AGC		0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			4	27	1	0	1.23904e-05	0.014758	1.26657e-05	4	27				
ZNF324B	388569	broad.mit.edu	37	19	58967762	58967762	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:58967762C>T	ENST00000336614.4	+	4	1558	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	ZNF324B_ENST00000391696.1_Missense_Mutation_p.T474M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T484M	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCGTGTGCACGCAGTGTGGC	0.672																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1420-1422)aCg>aTg		zinc finger protein 324B																																				SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967762C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1451C>T	19.37:g.58967762C>T	ENSP00000337473:p.Thr484Met					ZNF324B_ENST00000336614.4_Missense_Mutation_p.T484M|ZNF324B_ENST00000545523.1_Missense_Mutation_p.T484M	p.T474M			Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	3	2353	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	484					B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1421C>T	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968712	0.18659	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.18502	2.21;2.21;2.21	3.22	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.560215	0.15070	N	0.282270	T	0.35307	0.0927	M	0.76002	2.32	0.09310	N	1	D;P	0.71674	0.998;0.552	D;B	0.63033	0.91;0.102	T	0.03608	-1.1020	10	0.56958	D	0.05	.	10.0361	0.42129	0.0:0.7918:0.2082:0.0	.	484;474	Q6AW86;C9JTQ8	Z324B_HUMAN;.	M	484;484;474	ENSP00000337473:T484M;ENSP00000438930:T484M;ENSP00000375578:T474M	ENSP00000337473:T484M	T	+	2	0	ZNF324B	63659574	0.000000	0.05858	0.005000	0.12908	0.024000	0.10985	-0.165000	0.09968	1.784000	0.52394	0.591000	0.81541	ACG		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		11	62	0	0	0	0.080935	0	11	62				
PKN2	5586	broad.mit.edu	37	1	89279371	89279371	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:89279371T>C	ENST00000370521.3	+	16	2593	c.2234T>C	c.(2233-2235)cTa>cCa	p.L745P	PKN2_ENST00000370513.5_Missense_Mutation_p.L697P|PKN2_ENST00000370505.3_Missense_Mutation_p.L588P|PKN2_ENST00000544045.1_Missense_Mutation_p.L419P	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGTGGGGACCTAATGATGCAC	0.408																																						ENST00000370521.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33						c.(2233-2235)cTa>cCa		protein kinase N2							221.0	202.0	208.0					1																	89279371		1921	4148	6069	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89279371T>C	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2234T>C	1.37:g.89279371T>C	ENSP00000359552:p.Leu745Pro					PKN2_ENST00000370505.3_Missense_Mutation_p.L588P|PKN2_ENST00000370513.5_Missense_Mutation_p.L697P|PKN2_ENST00000544045.1_Missense_Mutation_p.L419P	p.L745P	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	16	2593	+		Lung NSC(277;0.123)	745			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2234T>C	CCDS714.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240035	0.79912	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.41	5.41	0.78517	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	0.35407	U	0.003226	D	0.85396	0.5687	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.91295	0.5062	10	0.87932	D	0	.	15.4365	0.75152	0.0:0.0:0.0:1.0	.	729;697;745	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	P	745;588;697;419	ENSP00000359552:L745P;ENSP00000359536:L588P;ENSP00000359544:L697P;ENSP00000439643:L419P	ENSP00000359536:L588P	L	+	2	0	PKN2	89051959	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.068000	0.61886	0.528000	0.53228	CTA		0.408	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		3	176	0	0	0	0.009096	0	3	176				
SERPINI1	5274	broad.mit.edu	37	3	167543055	167543055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:167543055C>T	ENST00000295777.5	+	9	1608	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.R393*|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	393					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTCATGGGACGAGTCATGCA	0.318																																						ENST00000295777.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						c.(1177-1179)Cga>Tga		serpin peptidase inhibitor, clade I (neuroserpin), member 1							121.0	124.0	123.0					3																	167543055		2203	4300	6503	SO:0001587	stop_gained	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167543055C>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.1177C>T	3.37:g.167543055C>T	ENSP00000295777:p.Arg393*					SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.R393*|SERPINI1_ENST00000488374.1_3'UTR	p.R393*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN			9	1608	+			393					A8K217|D3DNP1|Q6AHZ4	Nonsense_Mutation	SNP	ENST00000295777.5	37	c.1177C>T	CCDS3203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.360161|8.360161	0.98777|0.98777	.|.	.|.	ENSG00000163536|ENSG00000163536	ENST00000446050;ENST00000295777;ENST00000466979|ENST00000466865	.|.	.|.	.|.	5.71|5.71	3.72|3.72	0.42706|0.42706	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.62454	.|0.2429	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61113	.|-0.7128	.|4	0.02654|.	T|.	1|.	.|.	11.7337|11.7337	0.51752|0.51752	0.5652:0.4348:0.0:0.0|0.5652:0.4348:0.0:0.0	.|.	.|.	.|.	.|.	X|M	393;393;141|101	.|.	ENSP00000295777:R393X|.	R|T	+|+	1|2	2|0	SERPINI1|SERPINI1	169025749|169025749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	3.772000|3.772000	0.55325|0.55325	1.371000|1.371000	0.46172|0.46172	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.318	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			44	516	0	0	0	0.139131	0	44	516				
PCDHGA9	56107	broad.mit.edu	37	5	140782613	140782613	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:140782613C>T	ENST00000573521.1	+	1	94	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	32	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCAGATTCGCTACTCAGT	0.602																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(94-96)Cgc>Tgc									53.0	63.0	60.0					5																	140782613		2095	4254	6349	SO:0001583	missense	56107							g.chr5:140782613C>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.94C>T	5.37:g.140782613C>T	ENSP00000460274:p.Arg32Cys					PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R32C	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	94	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.94C>T	CCDS58981.1																																																																																				0.602	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		14	69	0	0	0	0.119110	0	14	69				
PKHD1L1	93035	broad.mit.edu	37	8	110456922	110456922	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:110456922A>T	ENST00000378402.5	+	38	4928	c.4824A>T	c.(4822-4824)gaA>gaT	p.E1608D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1608	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTCGTAGAAGAAAGTAGTG	0.358										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(4822-4824)gaA>gaT		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							191.0	189.0	190.0					8																	110456922		1866	4093	5959	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110456922A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4824A>T	8.37:g.110456922A>T	ENSP00000367655:p.Glu1608Asp	HNSCC(38;0.096)					p.E1608D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	4928	+			1608			IPT/TIG 8.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4824A>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.720559	0.30503	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	5.73	3.22	0.36961	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.366091	0.29053	N	0.013282	T	0.68007	0.2954	M	0.63428	1.95	0.21256	N	0.999744	B	0.25486	0.127	B	0.37989	0.262	T	0.53222	-0.8469	10	0.12766	T	0.61	.	2.8972	0.05694	0.6295:0.1488:0.0786:0.1431	.	1608	Q86WI1	PKHL1_HUMAN	D	1608	ENSP00000367655:E1608D	ENSP00000367655:E1608D	E	+	3	2	PKHD1L1	110526098	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	1.836000	0.39191	0.457000	0.26962	0.533000	0.62120	GAA		0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		81	210	0	0	0	0.139131	0	81	210				
XRN1	54464	broad.mit.edu	37	3	142137436	142137436	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:142137436T>C	ENST00000264951.4	-	12	1373	c.1256A>G	c.(1255-1257)gAg>gGg	p.E419G	RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Missense_Mutation_p.E419G|XRN1_ENST00000544157.1_Missense_Mutation_p.E209G|XRN1_ENST00000463916.1_Missense_Mutation_p.E419G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	419					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATCTTCAGTCTCATCTTCTAA	0.333																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1255-1257)gAg>gGg		5'-3' exoribonuclease 1							113.0	112.0	113.0					3																	142137436		2203	4297	6500	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142137436T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1256A>G	3.37:g.142137436T>C	ENSP00000264951:p.Glu419Gly					XRN1_ENST00000463916.1_Missense_Mutation_p.E419G|XRN1_ENST00000392981.2_Missense_Mutation_p.E419G|XRN1_ENST00000544157.1_Missense_Mutation_p.E209G	p.E419G	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			12	1373	-			419					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1256A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596280	0.46318	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.49	5.49	0.81192	.	0.050792	0.85682	D	0.000000	T	0.73705	0.3621	L	0.51422	1.61	0.58432	D	0.999998	P;P;B;B;B	0.36392	0.551;0.493;0.01;0.018;0.017	B;B;B;B;B	0.41466	0.358;0.085;0.01;0.012;0.009	T	0.74284	-0.3715	10	0.45353	T	0.12	-15.8709	15.593	0.76554	0.0:0.0:0.0:1.0	.	209;419;280;419;419	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	G	419;419;419;209	ENSP00000264951:E419G;ENSP00000376707:E419G;ENSP00000418404:E419G;ENSP00000444310:E209G	ENSP00000264951:E419G	E	-	2	0	XRN1	143620126	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	8.008000	0.88588	2.073000	0.62155	0.383000	0.25322	GAG		0.333	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		7	32	0	0	0	0.038147	0	7	32				
C9orf135	138255	broad.mit.edu	37	9	72521027	72521027	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:72521027C>T	ENST00000377197.3	+	6	752	c.665C>T	c.(664-666)aCt>aTt	p.T222I	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	222						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TATCCCTTGACTAGTGGGCCT	0.338																																						ENST00000377197.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(664-666)aCt>aTt		chromosome 9 open reading frame 135							109.0	110.0	109.0					9																	72521027		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72521027C>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.665C>T	9.37:g.72521027C>T	ENSP00000366402:p.Thr222Ile					C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	p.T222I	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN			6	752	+			222					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.665C>T	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342347	0.24339	.	.	ENSG00000204711	ENST00000377197	.	.	.	6.17	4.29	0.51040	.	0.315193	0.27881	N	0.017472	T	0.43100	0.1232	L	0.48642	1.525	0.09310	N	0.999992	D	0.55605	0.972	P	0.50440	0.641	T	0.31475	-0.9942	9	0.52906	T	0.07	0.4936	9.0729	0.36504	0.0:0.7742:0.1466:0.0792	.	222	Q5VTT2	CI135_HUMAN	I	222	.	ENSP00000366402:T222I	T	+	2	0	C9orf135	71710847	0.017000	0.18338	0.015000	0.15790	0.023000	0.10783	0.574000	0.23714	1.586000	0.49944	0.655000	0.94253	ACT		0.338	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		12	64	0	0	0	0.093190	0	12	64				
MFN1	55669	broad.mit.edu	37	3	179069808	179069808	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:179069808T>C	ENST00000471841.1	+	3	359	c.233T>C	c.(232-234)gTg>gCg	p.V78A	MFN1_ENST00000263969.5_Missense_Mutation_p.V78A|MFN1_ENST00000280653.7_Missense_Mutation_p.V78A	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	78	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CACATGAAGGTGGCATTTTTT	0.378																																						ENST00000471841.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31						c.(232-234)gTg>gCg		mitofusin 1							152.0	156.0	155.0					3																	179069808		2203	4300	6503	SO:0001583	missense	55669				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	g.chr3:179069808T>C	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.233T>C	3.37:g.179069808T>C	ENSP00000420617:p.Val78Ala					MFN1_ENST00000280653.7_Missense_Mutation_p.V78A|MFN1_ENST00000263969.5_Missense_Mutation_p.V78A	p.V78A	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		3	359	+	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		78					B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	ENST00000471841.1	37	c.233T>C	CCDS3228.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479066	0.63849	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.057558	0.64402	D	0.000002	D	0.98692	0.9561	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.99804	1.1037	10	0.87932	D	0	-13.8988	15.2812	0.73787	0.0:0.0:0.0:1.0	.	106;78	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	A	78	ENSP00000420617:V78A;ENSP00000280653:V78A;ENSP00000419134:V78A;ENSP00000263969:V78A	ENSP00000263969:V78A	V	+	2	0	MFN1	180552502	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.612000	0.82975	2.078000	0.62432	0.383000	0.25322	GTG		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348654.2	NM_017927		67	368	0	0	0	0.139131	0	67	368				
ATP13A4	84239	broad.mit.edu	37	3	193166024	193166024	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:193166024G>C	ENST00000342695.4	-	18	2445	c.2123C>G	c.(2122-2124)tCa>tGa	p.S708*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.S689*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	708						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TATCCGGGCTGAGATGAGCTC	0.408																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2122-2124)tCa>tGa		ATPase type 13A4							135.0	125.0	128.0					3																	193166024		2203	4300	6503	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166024G>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2123C>G	3.37:g.193166024G>C	ENSP00000339182:p.Ser708*					ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.S689*	p.S708*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2445	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		708					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.2123C>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	40	8.184469	0.98693	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	.	.	.	4.84	4.84	0.62591	.	0.350120	0.24776	N	0.035700	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-11.4553	12.7354	0.57220	0.0:0.1656:0.8344:0.0	.	.	.	.	X	689;708	.	ENSP00000339182:S708X	S	-	2	0	ATP13A4	194648718	0.232000	0.23762	1.000000	0.80357	0.995000	0.86356	1.571000	0.36450	2.381000	0.81170	0.650000	0.86243	TCA		0.408	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		12	176	0	0	0	0.093190	0	12	176				
VSX2	338917	broad.mit.edu	37	14	74726405	74726405	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr14:74726405G>A	ENST00000261980.2	+	4	770	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	227	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.		R -> W (in MCOP2). {ECO:0000269|PubMed:15257456}.		cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GCCATGGTGCGGCACTCCATC	0.637																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(679-681)cGg>cAg		visual system homeobox 2							120.0	97.0	105.0					14																	74726405		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74726405G>A	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.680G>A	14.37:g.74726405G>A	ENSP00000261980:p.Arg227Gln						p.R227Q	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	4	770	+			227		R -> W (in MCOP2).	CVC.		A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.680G>A	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	G	36	5.751044	0.96890	.	.	ENSG00000119614	ENST00000261980	D	0.92299	-3.01	5.13	5.13	0.70059	CVC domain (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95501	0.8577	10	0.59425	D	0.04	.	18.7787	0.91922	0.0:0.0:1.0:0.0	.	227	P58304	VSX2_HUMAN	Q	227	ENSP00000261980:R227Q	ENSP00000261980:R227Q	R	+	2	0	VSX2	73796158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.578000	0.98200	2.669000	0.90835	0.655000	0.94253	CGG		0.637	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		12	56	0	0	0	0.080935	0	12	56				
MFN2	9927	broad.mit.edu	37	1	12056346	12056346	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:12056346G>A	ENST00000235329.5	+	5	767	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MFN2_ENST00000444836.1_Missense_Mutation_p.E149K	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	149	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TCTCCTTACCGAGGGCTCAGA	0.602																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(445-447)Gag>Aag		mitofusin 2							86.0	79.0	82.0					1																	12056346		2203	4300	6503	SO:0001583	missense	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12056346G>A	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.445G>A	1.37:g.12056346G>A	ENSP00000235329:p.Glu149Lys					MFN2_ENST00000444836.1_Missense_Mutation_p.E149K	p.E149K	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	5	767	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	149					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	37	c.445G>A	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652263	0.88056	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.97041	-4.22;-4.22	5.34	5.34	0.76211	Dynamin, GTPase domain (1);	0.053931	0.85682	D	0.000000	D	0.94761	0.8309	L	0.45137	1.4	0.80722	D	1	P	0.36199	0.543	B	0.35859	0.212	D	0.93608	0.6936	10	0.21014	T	0.42	-20.8868	18.381	0.90451	0.0:0.0:1.0:0.0	.	149	O95140	MFN2_HUMAN	K	149	ENSP00000416338:E149K;ENSP00000235329:E149K	ENSP00000235329:E149K	E	+	1	0	MFN2	11978933	1.000000	0.71417	0.959000	0.39883	0.991000	0.79684	9.420000	0.97426	2.645000	0.89757	0.655000	0.94253	GAG		0.602	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		6	44	0	0	0	0.021553	0	6	44				
FAM86B3P	286042	broad.mit.edu	37	8	8095858	8095858	+	RNA	SNP	G	G	A	rs543931143		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr8:8095858G>A	ENST00000310542.3	+	0	0				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CCATGGACCCGTCTCTGTCCC	0.602													.|||	1	0.000199681	0.0	0.0	5008	,	,		19989	0.001		0.0	False		,,,				2504	0.0					ENST00000523017.1																			0																																																			286042							g.chr8:8095858G>A			8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8095858G>A														0	608	-									RNA	SNP	ENST00000310542.3	37																																																																																						0.602	FAM86B3P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000448496.1			7	35	0	0	0	0.047766	0	7	35				
STK36	27148	broad.mit.edu	37	2	219559301	219559301	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:219559301C>T	ENST00000295709.3	+	21	2733	c.2454C>T	c.(2452-2454)gaC>gaT	p.D818D	STK36_ENST00000440309.1_Silent_p.D818D|STK36_ENST00000392105.3_Silent_p.D818D|STK36_ENST00000392106.2_Silent_p.D818D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TGACCTTTGACCTCCAGCCCA	0.552																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(2452-2454)gaC>gaT		serine/threonine kinase 36							103.0	98.0	99.0					2																	219559301		2203	4300	6503	SO:0001819	synonymous_variant	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219559301C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2454C>T	2.37:g.219559301C>T						STK36_ENST00000440309.1_Silent_p.D818D|STK36_ENST00000392105.3_Silent_p.D818D|STK36_ENST00000392106.2_Silent_p.D818D	p.D818D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	21	2733	+		Renal(207;0.0915)	818						Silent	SNP	ENST00000295709.3	37	c.2454C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	9.463	1.093718	0.20471	.	.	ENSG00000163482	ENST00000431040	.	.	.	5.01	0.855	0.19013	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26744	-1.0094	4	.	.	.	-7.0106	4.3912	0.11341	0.2452:0.2161:0.4561:0.0826	.	.	.	.	I	12	.	.	T	+	2	0	STK36	219267545	0.954000	0.32549	1.000000	0.80357	0.995000	0.86356	-0.123000	0.10611	0.287000	0.22375	-0.165000	0.13383	ACC		0.552	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			20	84	0	0	0	0.055883	0	20	84				
ABCA4	24	broad.mit.edu	37	1	94505666	94505666	+	Silent	SNP	C	C	T	rs387906388		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:94505666C>T	ENST00000370225.3	-	24	3626	c.3540G>A	c.(3538-3540)tcG>tcA	p.S1180S		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1180					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AACCCTTAGACGAGCAGCTGC	0.572											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(3538-3540)tcG>tcA		ATP-binding cassette, sub-family A (ABC1), member 4							119.0	93.0	102.0					1																	94505666		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94505666C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3540G>A	1.37:g.94505666C>T			OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1306		p.S1180S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	24	3626	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1180					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.3540G>A	CCDS747.1																																																																																				0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	12	0	0	0	0.021553	0	5	12				
KMT2D	8085	broad.mit.edu	37	12	49448693	49448693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:49448693G>A	ENST00000301067.7	-	2	165	c.166C>T	c.(166-168)Cag>Tag	p.Q56*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	56					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCAGTCCTGAGGAGTCTCC	0.522																																						ENST00000301067.7																			0											c.(166-168)Cag>Tag		lysine (K)-specific methyltransferase 2D							136.0	132.0	133.0					12																	49448693		1933	4148	6081	SO:0001587	stop_gained	8085							g.chr12:49448693G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.166C>T	12.37:g.49448693G>A	ENSP00000301067:p.Gln56*						p.Q56*	NM_003482.3	NP_003473.3					2	165	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.166C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797114	0.70567	.	.	ENSG00000167548	ENST00000301067;ENST00000547610	.	.	.	5.3	3.45	0.39498	.	2.063160	0.03106	N	0.161798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4804	0.33038	0.0:0.1676:0.6584:0.174	.	.	.	.	X	56	.	ENSP00000301067:Q56X	Q	-	1	0	MLL2	47734960	1.000000	0.71417	0.993000	0.49108	0.724000	0.41520	3.246000	0.51414	0.585000	0.29608	0.557000	0.71058	CAG		0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			40	139	0	0	0	0.104719	0	40	139				
ASIC1	41	broad.mit.edu	37	12	50480110	50480110	+	IGR	SNP	C	C	T	rs376164103		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:50480110C>T	ENST00000447966.2	+	0	3778				SMARCD1_ENST00000548573.1_5'Flank|SMARCD1_ENST00000381513.4_Missense_Mutation_p.A115V|SMARCD1_ENST00000394963.4_Missense_Mutation_p.A115V	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CAGCAGCAGGCGGTCCAAAAT	0.617																																						ENST00000394963.4																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(343-345)gCg>gTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	34.0	36.0	35.0		344,344	5.2	1.0	12		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SMARCD1	NM_003076.4,NM_139071.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	115/516,115/475	50480110	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	6602				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity	g.chr12:50480110C>T	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812		12.37:g.50480110C>T						SMARCD1_ENST00000381513.4_Missense_Mutation_p.A115V	p.A115V	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN			2	742	+			115			Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.344C>T	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557926	0.45590	0.0	1.16E-4	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000551497	D;D;T	0.85258	-1.96;-1.96;0.53	5.19	5.19	0.71726	.	0.240810	0.41823	D	0.000812	T	0.77075	0.4077	N	0.17082	0.46	0.80722	D	1	P;P;B	0.49961	0.93;0.723;0.024	B;B;B	0.41412	0.356;0.172;0.006	T	0.78069	-0.2348	10	0.33940	T	0.23	-8.0772	19.1101	0.93313	0.0:1.0:0.0:0.0	.	115;115;115	B4DF50;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	V	115;115;115;115;53	ENSP00000378414:A115V;ENSP00000370924:A115V;ENSP00000449825:A53V	ENSP00000370924:A115V	A	+	2	0	SMARCD1	48766377	0.994000	0.37717	1.000000	0.80357	0.703000	0.40648	2.374000	0.44274	2.588000	0.87417	0.650000	0.86243	GCG		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		7	24	0	0	0	0.029380	0	7	24				
OR5L2	26338	broad.mit.edu	37	11	55594821	55594821	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:55594821C>T	ENST00000378397.1	+	1	127	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTTAGCCAATCTGGGCATGAC	0.498										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(127-129)Ctg>Ttg		olfactory receptor, family 5, subfamily L, member 2							326.0	284.0	298.0					11																	55594821		2200	4296	6496	SO:0001819	synonymous_variant	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594821C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.127C>T	11.37:g.55594821C>T		HNSCC(27;0.073)					p.L43L	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	127	+		all_epithelial(135;0.208)	43					Q6IF66|Q96RB2	Silent	SNP	ENST00000378397.1	37	c.127C>T	CCDS31511.1																																																																																				0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		63	247	0	0	0	0.139131	0	63	247				
MAK	4117	broad.mit.edu	37	6	10770373	10770373	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:10770373T>C	ENST00000313243.2	-	13	2070	c.1688A>G	c.(1687-1689)cAc>cGc	p.H563R	MAK_ENST00000538030.1_3'UTR|MAK_ENST00000354489.2_Missense_Mutation_p.H563R|MAK_ENST00000474039.1_Missense_Mutation_p.H563R|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	563					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGGTGCTAAGTGGATCCTCTG	0.398																																						ENST00000313243.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22						c.(1687-1689)cAc>cGc		male germ cell-associated kinase							141.0	131.0	134.0					6																	10770373		2203	4300	6503	SO:0001583	missense	4117				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity	g.chr6:10770373T>C		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1688A>G	6.37:g.10770373T>C	ENSP00000313021:p.His563Arg					MAK_ENST00000354489.2_Missense_Mutation_p.H563R|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.H563R|MAK_ENST00000538030.1_3'UTR	p.H563R			P20794	MAK_HUMAN			13	2070	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	563					F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	37	c.1688A>G	CCDS4516.1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645661	0.47258	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.71341	-0.56;-0.56	5.53	5.53	0.82687	.	0.110972	0.64402	D	0.000008	T	0.58177	0.2104	M	0.62723	1.935	0.80722	D	1	B	0.22683	0.073	B	0.26094	0.066	T	0.62478	-0.6846	10	0.51188	T	0.08	.	13.9004	0.63799	0.0:0.0:0.0:1.0	.	563	P20794	MAK_HUMAN	R	563	ENSP00000313021:H563R;ENSP00000346484:H563R	ENSP00000313021:H563R	H	-	2	0	MAK	10878359	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	3.399000	0.52586	2.106000	0.64143	0.455000	0.32223	CAC		0.398	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	NM_005906		17	90	0	0	0	0.043863	0	17	90				
CCDC64	92558	broad.mit.edu	37	12	120510422	120510422	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:120510422C>T	ENST00000397558.2	+	6	1197	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Silent_p.D48D	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	399					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCATGGACGAGTCTTCAG	0.572																																						ENST00000397558.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1195-1197)gaC>gaT		coiled-coil domain containing 64							59.0	62.0	61.0					12																	120510422		2113	4234	6347	SO:0001819	synonymous_variant	92558				Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding	g.chr12:120510422C>T	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1197C>T	12.37:g.120510422C>T						CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Silent_p.D48D	p.D399D	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN			6	1197	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		399					A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	c.1197C>T	CCDS41845.1																																																																																				0.572	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311		13	50	0	0	0	0.119110	0	13	50				
SCUBE1	80274	broad.mit.edu	37	22	43610219	43610219	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:43610219C>T	ENST00000360835.4	-	16	2056	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	644					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				ACACACTGGCCGAGCTCACCA	0.642																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1930-1932)Ggc>Agc		signal peptide, CUB domain, EGF-like 1							71.0	55.0	60.0					22																	43610219		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43610219C>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1930G>A	22.37:g.43610219C>T	ENSP00000354080:p.Gly644Ser						p.G644S	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			16	2056	-		all_neural(38;0.0414)|Ovarian(80;0.07)	644					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1930G>A	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	c	2.887	-0.230503	0.05983	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.14640	2.49	3.81	-4.08	0.03963	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.498256	0.24325	N	0.039515	T	0.06280	0.0162	N	0.13198	0.31	0.54753	D	0.999989	B	0.06786	0.001	B	0.13407	0.009	T	0.34925	-0.9809	10	0.19147	T	0.46	.	11.8665	0.52496	0.0:0.1917:0.0:0.8083	.	644	Q8IWY4	SCUB1_HUMAN	S	644;274	ENSP00000354080:G644S	ENSP00000354080:G644S	G	-	1	0	SCUBE1	41940163	0.001000	0.12720	0.037000	0.18230	0.259000	0.26198	-0.050000	0.11904	-0.550000	0.06183	-0.309000	0.09137	GGC		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		3	48	0	0	0	0.009096	0	3	48				
LRP1B	53353	broad.mit.edu	37	2	140992403	140992403	+	Silent	SNP	C	C	T	rs149169898	byFrequency	TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:140992403C>T	ENST00000389484.3	-	90	14582	c.13611G>A	c.(13609-13611)gcG>gcA	p.A4537A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4537					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		agatgggcggcgctgtgtgtg	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13609-13611)gcG>gcA		low density lipoprotein receptor-related protein 1B		C		0,4406		0,0,2203	114.0	112.0	112.0		13611	1.9	1.0	2	dbSNP_134	112	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP1B	NM_018557.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		4537/4600	140992403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140992403C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13611G>A	2.37:g.140992403C>T		TSP Lung(27;0.18)					p.A4537A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	90	14582	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4537					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.13611G>A	CCDS2182.1																																																																																				0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	46	0	0	0	0.047766	0	7	46				
PLCE1	51196	broad.mit.edu	37	10	95790868	95790868	+	Missense_Mutation	SNP	C	C	T	rs538129490		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95790868C>T	ENST00000371380.3	+	1	300	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PLCE1_ENST00000260766.3_Missense_Mutation_p.A22V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	22					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGGTTTCTGCCCAGTCGGCT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18747	0.0		0.0	False		,,,				2504	0.0					ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(64-66)gCc>gTc		phospholipase C, epsilon 1							82.0	78.0	79.0					10																	95790868		1889	4112	6001	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95790868C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.65C>T	10.37:g.95790868C>T	ENSP00000360431:p.Ala22Val					PLCE1_ENST00000371380.2_Missense_Mutation_p.A22V	p.A22V	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			2	699	+		Colorectal(252;0.0458)	22					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.65C>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	8.446	0.851923	0.17034	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.30182	1.54;1.54	5.12	2.11	0.27256	.	0.477159	0.17595	N	0.168636	T	0.19366	0.0465	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18053	-1.0349	10	0.51188	T	0.08	.	8.9135	0.35568	0.0:0.6821:0.0:0.3179	.	22;22	B7ZM61;Q9P212	.;PLCE1_HUMAN	V	22	ENSP00000260766:A22V;ENSP00000360431:A22V	ENSP00000260766:A22V	A	+	2	0	PLCE1	95780858	0.618000	0.27051	0.002000	0.10522	0.253000	0.25986	0.890000	0.28295	0.603000	0.29913	-0.355000	0.07637	GCC		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		3	51	0	0	0	0.009096	0	3	51				
WDR44	54521	broad.mit.edu	37	X	117527109	117527109	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chrX:117527109C>T	ENST00000254029.3	+	4	1096	c.701C>T	c.(700-702)gCa>gTa	p.A234V	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.A209V|WDR44_ENST00000371825.3_Missense_Mutation_p.A234V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	234	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGTTCCAGCACGCCCACCT	0.517																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(700-702)gCa>gTa		WD repeat domain 44							116.0	108.0	111.0					X																	117527109		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527109C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.701C>T	X.37:g.117527109C>T	ENSP00000254029:p.Ala234Val					WDR44_ENST00000371822.5_Missense_Mutation_p.A209V|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.A234V	p.A234V	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			4	1096	+			234			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.701C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378841	0.82682	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.74842	-0.88;-0.3;-0.17	5.51	5.51	0.81932	.	0.061331	0.64402	D	0.000002	T	0.73079	0.3541	L	0.29908	0.895	0.41275	D	0.986874	P;P;P	0.44776	0.843;0.673;0.722	P;B;B	0.49887	0.625;0.327;0.164	T	0.71076	-0.4697	10	0.28530	T	0.3	-29.3049	18.4598	0.90735	0.0:1.0:0.0:0.0	.	209;234;234	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	V	209;234;234	ENSP00000360887:A209V;ENSP00000254029:A234V;ENSP00000360890:A234V	ENSP00000254029:A234V	A	+	2	0	WDR44	117411137	1.000000	0.71417	0.995000	0.50966	0.632000	0.37999	7.440000	0.80464	2.301000	0.77427	0.600000	0.82982	GCA		0.517	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		80	68	0	0	0	0.139131	0	80	68				
NIPSNAP1	8508	broad.mit.edu	37	22	29966459	29966459	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr22:29966459G>A	ENST00000216121.7	-	2	415	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	54					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						ATCCTTCCGGGGATCCACTTT	0.542																																						ENST00000216121.7																			1	Unknown(1)	p.?(1)	lung(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(160-162)cCc>cTc		nipsnap homolog 1 (C. elegans)							65.0	61.0	63.0					22																	29966459		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29966459G>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.161C>T	22.37:g.29966459G>A	ENSP00000216121:p.Pro54Leu						p.P54L	NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN			2	415	-			54					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.161C>T	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053383	0.93793	.	.	ENSG00000184117	ENST00000216121	T	0.69435	-0.4	4.48	4.48	0.54585	.	0.049339	0.85682	D	0.000000	T	0.80188	0.4577	M	0.89287	3.02	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.52598	0.703;0.703	D	0.85542	0.1216	10	0.87932	D	0	-7.2698	17.3496	0.87320	0.0:0.0:1.0:0.0	.	34;54	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	L	54	ENSP00000216121:P54L	ENSP00000216121:P54L	P	-	2	0	NIPSNAP1	28296459	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.225000	0.95219	2.489000	0.83994	0.456000	0.33151	CCC		0.542	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			5	24	0	0	0	0.014758	0	5	24				
OBSCN	84033	broad.mit.edu	37	1	228476582	228476582	+	Silent	SNP	C	C	T	rs371792687		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:228476582C>T	ENST00000422127.1	+	38	10376	c.10332C>T	c.(10330-10332)acC>acT	p.T3444T	OBSCN_ENST00000366707.4_Silent_p.T563T|OBSCN_ENST00000570156.2_Silent_p.T3873T|OBSCN_ENST00000359599.6_Silent_p.T2291T|OBSCN_ENST00000284548.11_Silent_p.T3444T|OBSCN_ENST00000366709.4_Silent_p.T563T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3444	Ig-like 34.				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)				CCACTCTCACCGTGAAGGGTA	0.612																																						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.(11617-11619)acC>acT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	,	0,4390		0,0,2195	90.0	101.0	98.0		10332,10332	-4.9	0.0	1		98	1,8559	1.2+/-3.3	0,1,4279	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	0,1,6474	TT,TC,CC		0.0117,0.0,0.0077	,	3444/7969,3444/6621	228476582	1,12949	2195	4280	6475	SO:0001819	synonymous_variant	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.chr1:228476582C>T	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.10332C>T	1.37:g.228476582C>T						OBSCN_ENST00000359599.6_Silent_p.T2291T|OBSCN_ENST00000284548.11_Silent_p.T3444T|OBSCN_ENST00000366707.4_Silent_p.T563T|OBSCN_ENST00000422127.1_Silent_p.T3444T|OBSCN_ENST00000366709.4_Silent_p.T563T	p.T3873T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			43	11693	+		Prostate(94;0.0405)	2910			Ig-like 39.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.11619C>T	CCDS58065.1																																																																																				0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	43	0	0	0	0.069234	0	9	43				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			147172							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						SMURF2P1_ENST00000578265.1_RNA|LRRC37BP1_ENST00000412831.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		3	34	0	0	0	0.115264	0	3	34				
ABCC3	8714	broad.mit.edu	37	17	48750428	48750428	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr17:48750428G>A	ENST00000285238.8	+	18	2418	c.2338G>A	c.(2338-2340)Gcg>Acg	p.A780T		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	780	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCCACTGTCCGCGGTGGACTC	0.602																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2338-2340)Gcg>Acg		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						86.0	70.0	75.0					17																	48750428		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750428G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2338G>A	17.37:g.48750428G>A	ENSP00000285238:p.Ala780Thr						p.A780T	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		18	2418	+			780			ABC transporter 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2338G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	34	5.327411	0.95708	.	.	ENSG00000108846	ENST00000285238	D	0.91631	-2.88	4.72	4.72	0.59763	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.061993	0.64402	D	0.000005	D	0.97405	0.9151	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.98655	1.0681	10	0.87932	D	0	-10.5314	18.5715	0.91137	0.0:0.0:1.0:0.0	.	780	O15438	MRP3_HUMAN	T	780	ENSP00000285238:A780T	ENSP00000285238:A780T	A	+	1	0	ABCC3	46105427	1.000000	0.71417	0.891000	0.34965	0.786000	0.44442	7.903000	0.87398	2.558000	0.86282	0.561000	0.74099	GCG		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		13	46	0	0	0	0.105934	0	13	46				
CTNNA1	1495	broad.mit.edu	37	5	138145823	138145823	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:138145823C>G	ENST00000302763.7	+	4	488	c.398C>G	c.(397-399)tCt>tGt	p.S133C	CTNNA1_ENST00000518825.1_Missense_Mutation_p.S133C|CTNNA1_ENST00000355078.5_Missense_Mutation_p.S30C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	133	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTTTGCTCTCTGCTGTTACC	0.478																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(397-399)tCt>tGt		catenin (cadherin-associated protein), alpha 1, 102kDa							118.0	114.0	115.0					5																	138145823		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138145823C>G	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.398C>G	5.37:g.138145823C>G	ENSP00000304669:p.Ser133Cys					CTNNA1_ENST00000518825.1_Missense_Mutation_p.S133C|CTNNA1_ENST00000355078.5_Missense_Mutation_p.S30C	p.S133C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	488	+			133			Interaction with JUP and CTNNB1.|Involved in homodimerization.		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.398C>G	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177780	0.94846	.	.	ENSG00000044115	ENST00000523912;ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518245;ENST00000519113;ENST00000520158;ENST00000518825	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70716	0.939;0.97	T	0.66432	-0.5925	9	.	.	.	-10.4564	19.2838	0.94063	0.0:1.0:0.0:0.0	.	133;133	G3XAM7;P35221	.;CTNA1_HUMAN	C	133;30;133;30;133;133;103;133;133;133	ENSP00000430304:S133C;ENSP00000347190:S30C;ENSP00000304669:S133C;ENSP00000430626:S30C;ENSP00000428457:S103C;ENSP00000430078:S133C;ENSP00000429457:S133C;ENSP00000427821:S133C	.	S	+	2	0	CTNNA1	138173722	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.776000	0.85560	2.715000	0.92844	0.655000	0.94253	TCT		0.478	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		28	62	0	0	0	0.134883	0	28	62				
USH1C	10083	broad.mit.edu	37	11	17548829	17548829	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17548829G>A	ENST00000318024.4	-	5	545	c.437C>T	c.(436-438)aCc>aTc	p.T146I	USH1C_ENST00000005226.7_Missense_Mutation_p.T146I|USH1C_ENST00000527020.1_Missense_Mutation_p.T146I|USH1C_ENST00000527720.1_Missense_Mutation_p.T115I	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	146	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCCTCATGGGTACAGGAGGA	0.547																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(436-438)aCc>aTc		Usher syndrome 1C (autosomal recessive, severe)							147.0	118.0	128.0					11																	17548829		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17548829G>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.437C>T	11.37:g.17548829G>A	ENSP00000317018:p.Thr146Ile					USH1C_ENST00000527720.1_Missense_Mutation_p.T115I|USH1C_ENST00000527020.1_Missense_Mutation_p.T146I|USH1C_ENST00000318024.4_Missense_Mutation_p.T146I	p.T146I	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			5	436	-			146			PDZ 1.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.437C>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849615	0.71603	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226;ENST00000526181	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.13	5.13	0.70059	PDZ/DHR/GLGF (4);	0.052227	0.85682	D	0.000000	T	0.44829	0.1312	M	0.67953	2.075	0.44595	D	0.997561	B;P;P	0.44139	0.185;0.549;0.827	B;P;P	0.48982	0.4;0.535;0.597	T	0.37798	-0.9690	10	0.45353	T	0.12	.	17.3679	0.87368	0.0:0.0:1.0:0.0	.	146;146;146	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	I	146;115;146;146;157	ENSP00000317018:T146I;ENSP00000432944:T115I;ENSP00000436934:T146I;ENSP00000005226:T146I;ENSP00000437128:T157I	ENSP00000005226:T146I	T	-	2	0	USH1C	17505405	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.946000	0.75953	2.373000	0.80994	0.563000	0.77884	ACC		0.547	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		13	68	0	0	0	0.132662	0	13	68				
TTN	7273	broad.mit.edu	37	2	179604387	179604387	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:179604387C>T	ENST00000591111.1	-	46	12846	c.12622G>A	c.(12622-12624)Gaa>Aaa	p.E4208K	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4354K|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Missense_Mutation_p.E4287K|TTN_ENST00000460472.2_Missense_Mutation_p.E4162K|TTN_ENST00000589042.1_Missense_Mutation_p.E4525K			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTAGATTCAACTTCTGGT	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(13573-13575)Gaa>Aaa		titin							100.0	100.0	100.0					2																	179604387		1856	4102	5958	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604387C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12622G>A	2.37:g.179604387C>T	ENSP00000465570:p.Glu4208Lys					TTN_ENST00000460472.2_Missense_Mutation_p.E4162K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E4208K|TTN_ENST00000342175.6_Missense_Mutation_p.E4354K|TTN_ENST00000359218.5_Missense_Mutation_p.E4287K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA	p.E4525K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	13797	-			4208	K -> R (in Ref. 1; CAA62189).		Ig-like 25.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13573G>A		.	.	.	.	.	.	.	.	.	.	C	7.628	0.678341	0.14841	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.59906	0.28;0.24;0.23	5.56	0.308	0.15815	.	.	.	.	.	T	0.47229	0.1434	L	0.47716	1.5	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46816	-0.9164	9	0.87932	D	0	.	7.4608	0.27294	0.0:0.5378:0.1667:0.2955	.	4162;4287;4354	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4162;4354;4287;4162	ENSP00000434586:E4162K;ENSP00000340554:E4354K;ENSP00000352154:E4287K	ENSP00000340554:E4354K	E	-	1	0	TTN	179312632	0.000000	0.05858	0.012000	0.15200	0.390000	0.30446	-0.230000	0.09083	0.321000	0.23259	0.655000	0.94253	GAA		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	99	0	0	0	0.108266	0	29	99				
ZBTB11	27107	broad.mit.edu	37	3	101370392	101370392	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:101370392C>A	ENST00000312938.4	-	11	3360	c.2780G>T	c.(2779-2781)cGa>cTa	p.R927L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	927					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACGGAGTGTTCGAGCATCTAT	0.448																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2779-2781)cGa>cTa		zinc finger and BTB domain containing 11							120.0	118.0	119.0					3																	101370392		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370392C>A	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2780G>T	3.37:g.101370392C>A	ENSP00000326200:p.Arg927Leu						p.R927L	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3360	-			927					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.2780G>T	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735038	0.89482	.	.	ENSG00000066422	ENST00000312938	T	0.35789	1.29	5.81	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	N	0.24115	0.695	0.80722	D	1	P	0.51653	0.947	P	0.50590	0.645	T	0.22941	-1.0202	10	0.51188	T	0.08	-8.6101	16.6963	0.85336	0.0:0.8703:0.1296:0.0	.	927	O95625	ZBT11_HUMAN	L	927	ENSP00000326200:R927L	ENSP00000326200:R927L	R	-	2	0	ZBTB11	102853082	1.000000	0.71417	0.601000	0.28877	0.995000	0.86356	7.487000	0.81328	1.423000	0.47198	0.555000	0.69702	CGA		0.448	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		28	114	1	0	4.59853e-10	0.108266	4.78039e-10	28	114				
FARS2	10667	broad.mit.edu	37	6	5369231	5369231	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:5369231A>G	ENST00000324331.6	+	2	764	c.428A>G	c.(427-429)aAc>aGc	p.N143S	FARS2_ENST00000274680.4_Missense_Mutation_p.N143S			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	143					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAGGGGGACAACTATTACCTG	0.567																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(427-429)aAc>aGc		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						104.0	93.0	97.0					6																	5369231		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5369231A>G	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.428A>G	6.37:g.5369231A>G	ENSP00000316335:p.Asn143Ser					FARS2_ENST00000274680.4_Missense_Mutation_p.N143S	p.N143S			O95363	SYFM_HUMAN			2	764	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	143					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.428A>G	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842133	0.32513	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.53857	0.6;0.6	5.38	2.97	0.34412	Phenylalanyl-tRNA synthetase (1);	0.043954	0.85682	N	0.000000	T	0.27489	0.0675	N	0.17594	0.5	0.34632	D	0.719757	D	0.63046	0.992	P	0.53035	0.716	T	0.08722	-1.0708	10	0.28530	T	0.3	-7.9811	9.2297	0.37430	0.8514:0.0:0.1486:0.0	.	143	O95363	SYFM_HUMAN	S	143	ENSP00000274680:N143S;ENSP00000316335:N143S	ENSP00000274680:N143S	N	+	2	0	FARS2	5314230	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.296000	0.59055	0.425000	0.26087	0.533000	0.62120	AAC		0.567	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		10	74	0	0	0	0.069234	0	10	74				
PPP1R26	9858	broad.mit.edu	37	9	138376707	138376707	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:138376707C>T	ENST00000356818.2	+	4	900	c.351C>T	c.(349-351)ggC>ggT	p.G117G	PPP1R26_ENST00000605660.1_Silent_p.G117G|PPP1R26_ENST00000604351.1_Silent_p.G117G|PPP1R26_ENST00000605286.1_Silent_p.G117G|PPP1R26_ENST00000401470.3_Silent_p.G117G|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	117					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGACTTTGGCCCGTTGGTGC	0.587																																						ENST00000356818.2																			0											c.(349-351)ggC>ggT		protein phosphatase 1, regulatory subunit 26							59.0	69.0	65.0					9																	138376707		2203	4299	6502	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138376707C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.351C>T	9.37:g.138376707C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.G117G|PPP1R26_ENST00000605286.1_Silent_p.G117G|PPP1R26_ENST00000604351.1_Silent_p.G117G|PPP1R26_ENST00000401470.3_Silent_p.G117G	p.G117G	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	900	+			117					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.351C>T	CCDS6988.1																																																																																				0.587	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		4	111	0	0	0	0.021553	0	4	111				
RREB1	6239	broad.mit.edu	37	6	7229769	7229769	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:7229769G>A	ENST00000349384.6	+	10	1751	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	RREB1_ENST00000379938.2_Silent_p.S479S|RREB1_ENST00000334984.6_Silent_p.S479S|RREB1_ENST00000379933.3_Silent_p.S479S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	479					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TGGCAGCCTCGGCTCCCCCTC	0.607																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1435-1437)tcG>tcA		ras responsive element binding protein 1							97.0	112.0	107.0					6																	7229769		2202	4300	6502	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7229769G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1437G>A	6.37:g.7229769G>A						RREB1_ENST00000349384.6_Silent_p.S479S|RREB1_ENST00000334984.6_Silent_p.S479S|RREB1_ENST00000379933.3_Silent_p.S479S	p.S479S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	1974	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	479					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.1437G>A	CCDS34336.1																																																																																				0.607	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			26	208	0	0	0	0.108266	0	26	208				
CEP55	55165	broad.mit.edu	37	10	95276830	95276830	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:95276830A>T	ENST00000371485.3	+	6	1122	c.818A>T	c.(817-819)cAa>cTa	p.Q273L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	273					establishment of protein localization (GO:0045184)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|midbody (GO:0030496)				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GAAGAAACCCAAAAAGAAGTT	0.358																																						ENST00000371485.3																			0				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13						c.(817-819)cAa>cTa		centrosomal protein 55kDa							75.0	77.0	76.0					10																	95276830		2203	4300	6503	SO:0001583	missense	55165				cell division|mitosis	centriole|cleavage furrow|midbody		g.chr10:95276830A>T	AK001402	CCDS7428.1	10q24.1	2014-02-20	2005-12-01	2005-12-01	ENSG00000138180	ENSG00000138180			1161	protein-coding gene	gene with protein product	"""cancer/testis antigen 111"""	610000	"""chromosome 10 open reading frame 3"""	C10orf3		16198290	Standard	NM_018131		Approved	FLJ10540, CT111	uc009xug.3	Q53EZ4	OTTHUMG00000018774	ENST00000371485.3:c.818A>T	10.37:g.95276830A>T	ENSP00000360540:p.Gln273Leu						p.Q273L	NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN			6	1122	+		Colorectal(252;0.207)	273					B2RDG8|Q32WF5|Q3MV20|Q5VY28|Q6N034|Q96H32|Q9NVS7	Missense_Mutation	SNP	ENST00000371485.3	37	c.818A>T	CCDS7428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.89|13.89	2.372244|2.372244	0.42003|0.42003	.|.	.|.	ENSG00000138180|ENSG00000138180	ENST00000445435|ENST00000371485;ENST00000358339	.|T	.|0.18174	.|2.23	5.74|5.74	4.58|4.58	0.56647|0.56647	.|.	.|0.456985	.|0.25472	.|N	.|0.030430	.|T	.|0.09992	.|0.0245	N|N	0.22421|0.22421	0.69|0.69	0.22933|0.22933	N|N	0.998545|0.998545	.|P	.|0.34462	.|0.454	.|B	.|0.27262	.|0.078	.|T	.|0.22836	.|-1.0205	.|10	.|0.28530	.|T	.|0.3	-11.3933|-11.3933	9.4982|9.4982	0.39001|0.39001	0.8553:0.0:0.1447:0.0|0.8553:0.0:0.1447:0.0	.|.	.|273	.|Q53EZ4	.|CEP55_HUMAN	X|L	113|273	.|ENSP00000360540:Q273L	.|ENSP00000351102:Q273L	K|Q	+|+	1|2	0|0	CEP55|CEP55	95266820|95266820	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.886000|2.886000	0.48578|0.48578	0.956000|0.956000	0.37904|0.37904	0.459000|0.459000	0.35465|0.35465	AAA|CAA		0.358	CEP55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049434.1	NM_018131		10	54	0	0	0	0.069234	0	10	54				
MLN	4295	broad.mit.edu	37	6	33768873	33768873	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:33768873G>A	ENST00000430124.2	-	2	133	c.68C>T	c.(67-69)aCg>aTg	p.T23M	MLN_ENST00000266003.5_Missense_Mutation_p.T23M|MLN_ENST00000507738.1_Missense_Mutation_p.T23M	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	23					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GAAGGCTTCCGTCTGGGAGGC	0.577																																						ENST00000430124.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(67-69)aCg>aTg		motilin							127.0	116.0	119.0					6																	33768873		2203	4300	6503	SO:0001583	missense	4295				cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr6:33768873G>A		CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"""Endogenous ligands"""	7141	protein-coding gene	gene with protein product	"""prepromotilin"""	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.68C>T	6.37:g.33768873G>A	ENSP00000388825:p.Thr23Met					MLN_ENST00000507738.1_Missense_Mutation_p.T23M|MLN_ENST00000266003.5_Missense_Mutation_p.T23M	p.T23M	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN			2	133	-			23					B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	ENST00000430124.2	37	c.68C>T	CCDS4786.1	.	.	.	.	.	.	.	.	.	.	G	4.908	0.168763	0.09339	.	.	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.53423	0.62;0.62;0.62	4.78	1.99	0.26369	.	0.616256	0.15237	N	0.273104	T	0.21761	0.0524	M	0.76838	2.35	0.09310	N	0.999992	B;B;B	0.34181	0.44;0.44;0.44	B;B;B	0.20955	0.032;0.032;0.032	T	0.19745	-1.0296	10	0.87932	D	0	-3.2992	4.5371	0.12038	0.2745:0.1616:0.5639:0.0	.	23;23;23	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	M	23	ENSP00000388825:T23M;ENSP00000266003:T23M;ENSP00000425467:T23M	ENSP00000266003:T23M	T	-	2	0	MLN	33876851	0.836000	0.29430	0.382000	0.26119	0.024000	0.10985	1.030000	0.30153	0.229000	0.21039	0.563000	0.77884	ACG		0.577	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040211.4			18	102	0	0	0	0.033300	0	18	102				
PRDM15	63977	broad.mit.edu	37	21	43221624	43221624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:43221624C>A	ENST00000269844.3	-	31	4410	c.4300G>T	c.(4300-4302)Gaa>Taa	p.E1434*	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E1105*|PRDM15_ENST00000422911.1_Nonsense_Mutation_p.E1125*|PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E1088*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E1068*	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCGAGGCTTCCGGCTGGGGG	0.587																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3373-3375)Gaa>Taa		PR domain containing 15							99.0	84.0	89.0					21																	43221624		2203	4300	6503	SO:0001587	stop_gained	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221624C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4300G>T	21.37:g.43221624C>A	ENSP00000269844:p.Glu1434*					PRDM15_ENST00000538201.1_Nonsense_Mutation_p.E1088*|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.E1068*|PRDM15_ENST00000269844.3_Nonsense_Mutation_p.E1434*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.E1105*	p.E1125*			P57071	PRD15_HUMAN			25	3474	-			1434					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Nonsense_Mutation	SNP	ENST00000269844.3	37	c.3373G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	42	9.609433	0.99219	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-19.5668	15.9821	0.80116	0.0:1.0:0.0:0.0	.	.	.	.	X	1125;1105;1088;1068;1434	.	ENSP00000269844:E1434X	E	-	1	0	PRDM15	42094693	1.000000	0.71417	0.382000	0.26119	0.426000	0.31534	6.608000	0.74168	1.982000	0.57802	0.457000	0.33378	GAA		0.587	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		12	53	1	0	2.32078e-09	0.132662	2.39901e-09	12	53				
SLC44A1	23446	broad.mit.edu	37	9	108151336	108151336	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr9:108151336G>C	ENST00000374720.3	+	16	2220	c.1973G>C	c.(1972-1974)tGa>tCa	p.*658S	SLC44A1_ENST00000374724.1_Intron|SLC44A1_ENST00000343170.7_Intron|SLC44A1_ENST00000374723.1_Intron	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	0					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGTTCTGCTTGAACCTAGCCG	0.343																																						ENST00000374720.3																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1972-1974)tGa>tCa		solute carrier family 44 (choline transporter), member 1	Choline(DB00122)						206.0	198.0	201.0					9																	108151336		2203	4300	6503	SO:0001578	stop_lost	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108151336G>C	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1973G>C	9.37:g.108151336G>C	ENSP00000363852:p.*658Serext*2					SLC44A1_ENST00000343170.7_Intron|SLC44A1_ENST00000374724.1_Intron|SLC44A1_ENST00000374723.1_Intron	p.*658S	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN			16	2220	+			0					A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Nonstop_Mutation	SNP	ENST00000374720.3	37	c.1973G>C	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157234	0.21454	.	.	ENSG00000070214	ENST00000374720	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1161	0.93340	0.0:0.0:1.0:0.0	.	.	.	.	S	658	.	.	X	+	2	2	SLC44A1	107191157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.948000	0.75965	2.581000	0.87130	0.563000	0.77884	TGA		0.343	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		33	149	0	0	0	0.074837	0	33	149				
ZNF320	162967	broad.mit.edu	37	19	53384034	53384034	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:53384034C>T	ENST00000595635.1	-	8	1846	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A449T	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GAATTAAAGGCTTTACCACAA	0.403																																						ENST00000595635.1																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24						c.(1345-1347)Gcc>Acc		zinc finger protein 320							95.0	82.0	87.0					19																	53384034		2203	4300	6503	SO:0001583	missense	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384034C>T	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1345G>A	19.37:g.53384034C>T	ENSP00000473091:p.Ala449Thr					ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.A449T|ZNF320_ENST00000600930.1_Intron	p.A449T	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	8	1846	-			449					Q8NDR6	Missense_Mutation	SNP	ENST00000595635.1	37	c.1345G>A	CCDS33095.1	.	.	.	.	.	.	.	.	.	.	-	6.602	0.479371	0.12581	.	.	ENSG00000182986	ENST00000391781	T	0.36157	1.27	1.75	-0.778	0.10977	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10852	0.0265	N	0.03238	-0.38	0.09310	N	1	P	0.40398	0.716	B	0.35039	0.194	T	0.09930	-1.0652	9	0.29301	T	0.29	.	0.1425	0.00085	0.2402:0.2594:0.2384:0.262	.	449	A2RRD8	ZN320_HUMAN	T	449	ENSP00000375660:A449T	ENSP00000375660:A449T	A	-	1	0	ZNF320	58075846	0.000000	0.05858	0.002000	0.10522	0.051000	0.14879	0.019000	0.13444	0.045000	0.15804	0.194000	0.17425	GCC		0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		6	65	0	0	0	0.029380	0	6	65				
NFAT5	10725	broad.mit.edu	37	16	69703948	69703948	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr16:69703948G>A	ENST00000354436.2	+	7	1702	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	NFAT5_ENST00000567239.1_Missense_Mutation_p.E480K|NFAT5_ENST00000393742.2_Missense_Mutation_p.E386K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E480K|NFAT5_ENST00000566899.1_Missense_Mutation_p.E386K|NFAT5_ENST00000349945.1_Missense_Mutation_p.E386K	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	462					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGAGAAGAAGAAGTGTTTTT	0.363																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1156-1158)Gaa>Aaa		nuclear factor of activated T-cells 5, tonicity-responsive							60.0	61.0	61.0					16																	69703948		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69703948G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1384G>A	16.37:g.69703948G>A	ENSP00000346420:p.Glu462Lys					NFAT5_ENST00000393742.2_Missense_Mutation_p.E386K|NFAT5_ENST00000567239.1_Missense_Mutation_p.E480K|NFAT5_ENST00000566899.1_Missense_Mutation_p.E386K|NFAT5_ENST00000354436.2_Missense_Mutation_p.E462K|NFAT5_ENST00000432919.1_Missense_Mutation_p.E480K	p.E386K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			9	2708	+			462			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1156G>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453508	0.96223	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.18	5.18	0.71444	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.76494	0.997;0.978;0.997;0.999	D;P;D;D	0.77004	0.976;0.653;0.964;0.989	T	0.55218	-0.8175	10	0.36615	T	0.2	-3.1562	18.6886	0.91574	0.0:0.0:1.0:0.0	.	480;462;480;386	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	K	480;480;386;462;386	ENSP00000396538:E480K;ENSP00000338806:E386K;ENSP00000346420:E462K;ENSP00000377343:E386K	ENSP00000338806:E386K	E	+	1	0	NFAT5	68261449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.837000	0.99465	2.396000	0.81511	0.585000	0.79938	GAA		0.363	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	38	0	0	0	0.047766	0	8	38				
GRIA1	2890	broad.mit.edu	37	5	153149822	153149822	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr5:153149822G>A	ENST00000285900.5	+	13	2460	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	GRIA1_ENST00000448073.4_Missense_Mutation_p.R716Q|GRIA1_ENST00000518783.1_Missense_Mutation_p.R716Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R626Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R637Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R706Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	706					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGGATGATTCGAGTGAGGAAA	0.483																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2116-2118)cGa>cAa		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						135.0	121.0	126.0					5																	153149822		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149822G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2117G>A	5.37:g.153149822G>A	ENSP00000285900:p.Arg706Gln					GRIA1_ENST00000518783.1_Missense_Mutation_p.R716Q|GRIA1_ENST00000448073.4_Missense_Mutation_p.R716Q|GRIA1_ENST00000521843.2_Missense_Mutation_p.R637Q|GRIA1_ENST00000340592.5_Missense_Mutation_p.R706Q|GRIA1_ENST00000518142.1_Missense_Mutation_p.R626Q	p.R706Q	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2460	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	706					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2117G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108580	0.94292	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.88512	2.96	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.997;0.999	T	0.77536	-0.2551	10	0.87932	D	0	.	18.1724	0.89751	0.0:0.0:1.0:0.0	.	716;716;626;706;706	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	Q	706;706;626;660;706;639;637;716;716	ENSP00000285900:R706Q;ENSP00000427920:R626Q;ENSP00000339343:R706Q;ENSP00000427864:R639Q;ENSP00000442108:R637Q;ENSP00000428994:R716Q;ENSP00000415569:R716Q	ENSP00000285900:R706Q	R	+	2	0	GRIA1	153130015	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.785000	0.85724	2.525000	0.85131	0.655000	0.94253	CGA		0.483	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			14	47	0	0	0	0.119110	0	14	47				
TMEM50B	757	broad.mit.edu	37	21	34823152	34823152	+	Silent	SNP	A	A	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr21:34823152A>G	ENST00000542230.2	-	7	664	c.450T>C	c.(448-450)ttT>ttC	p.F150F	TMEM50B_ENST00000468874.2_5'Flank	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	150						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CGGTTCTTCCAAATTTGTAGA	0.348																																						ENST00000542230.2																			0				breast(1)|kidney(1)|ovary(1)|skin(1)	4						c.(448-450)ttT>ttC		transmembrane protein 50B							100.0	101.0	101.0					21																	34823152		2203	4300	6503	SO:0001819	synonymous_variant	757					endoplasmic reticulum|integral to membrane|plasma membrane		g.chr21:34823152A>G	AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.450T>C	21.37:g.34823152A>G							p.F150F	NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN			7	664	-			150					B2R4L4|D3DSF1|O60537|Q5PY47	Silent	SNP	ENST00000542230.2	37	c.450T>C	CCDS13625.1																																																																																				0.348	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5			13	40	0	0	0	0.146539	0	13	40				
GJB5	2709	broad.mit.edu	37	1	35223201	35223201	+	Silent	SNP	C	C	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr1:35223201C>T	ENST00000338513.1	+	2	443	c.270C>T	c.(268-270)ctC>ctT	p.L90L	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	90					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCACTGCTCGTGGTCATGC	0.617																																						ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(268-270)ctC>ctT		gap junction protein, beta 5, 31.1kDa							98.0	94.0	95.0					1																	35223201		2203	4300	6503	SO:0001819	synonymous_variant	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223201C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.270C>T	1.37:g.35223201C>T							p.L90L	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	443	+		Myeloproliferative disorder(586;0.0393)	90					Q9UPA3	Silent	SNP	ENST00000338513.1	37	c.270C>T	CCDS382.1																																																																																				0.617	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		17	69	0	0	0	0.055883	0	17	69				
COL6A3	1293	broad.mit.edu	37	2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	rs115765346		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1535H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCTTCTATGCGACTCCCCGC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17997	0.001		0.0	False		,,,				2504	0.0					ENST00000295550.4																			1	Substitution - Missense(1)	p.R1535H(1)	prostate(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(4603-4605)cGc>cAc		collagen, type VI, alpha 3							73.0	73.0	73.0					2																	238277502		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277502C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4604G>A	2.37:g.238277502C>T	ENSP00000295550:p.Arg1535His					COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H	p.R1535H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5056	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1535			Nonhelical region.|VWFA 8.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4604G>A	CCDS33412.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.90	3.722331	0.68959	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.36	5.36	0.76844	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000056	D	0.96390	0.8822	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.97905	1.0305	10	0.87932	D	0	.	19.1091	0.93310	0.0:1.0:0.0:0.0	.	928;1329;1535	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1535;1334;1329;928;1329;1335	ENSP00000295550:R1535H;ENSP00000315609:R1334H;ENSP00000315873:R1329H;ENSP00000418285:R928H;ENSP00000386844:R1329H;ENSP00000295546:R1335H	ENSP00000295550:R1535H	R	-	2	0	COL6A3	237942241	1.000000	0.71417	0.999000	0.59377	0.574000	0.36063	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	CGC		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	65	0	0	0	0.080935	0	11	65				
KMT2D	8085	broad.mit.edu	37	12	49438595	49438595	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr12:49438595G>C	ENST00000301067.7	-	19	4894	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1632					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAGGGCATCTGAGGGCTCAGA	0.607																																						ENST00000301067.7																			0											c.(4894-4896)tCa>tGa		lysine (K)-specific methyltransferase 2D							88.0	94.0	92.0					12																	49438595		2076	4202	6278	SO:0001587	stop_gained	8085							g.chr12:49438595G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4895C>G	12.37:g.49438595G>C	ENSP00000301067:p.Ser1632*						p.S1632*	NM_003482.3	NP_003473.3					19	4894	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.4895C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	42	9.181470	0.99092	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.81	4.92	0.64577	.	0.299963	0.18482	N	0.139901	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9629	0.30081	0.2366:0.0:0.7634:0.0	.	.	.	.	X	1632	.	ENSP00000301067:S1632X	S	-	2	0	MLL2	47724862	0.998000	0.40836	0.847000	0.33407	0.278000	0.26855	2.365000	0.44196	1.465000	0.48006	0.655000	0.94253	TCA		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	58	0	0	0	0.146539	0	17	58				
PIK3C2A	5286	broad.mit.edu	37	11	17140215	17140215	+	Silent	SNP	G	G	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:17140215G>T	ENST00000265970.7	-	17	3011	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I	RNU6-593P_ENST00000364716.1_RNA|PIK3C2A_ENST00000540361.1_Silent_p.I624I|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1004	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GTGCTATCTGGATATTTCCCA	0.289																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(3010-3012)atC>atA		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						84.0	90.0	88.0					11																	17140215		2200	4283	6483	SO:0001819	synonymous_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17140215G>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3012C>A	11.37:g.17140215G>T						PIK3C2A_ENST00000540361.1_Silent_p.I624I|PIK3C2A_ENST00000531428.1_Intron	p.I1004I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			17	3011	-			1004					B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	ENST00000265970.7	37	c.3012C>A	CCDS7824.1																																																																																				0.289	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		29	120	1	0	7.01153e-11	0.125774	7.33024e-11	29	120				
PEG3	5178	broad.mit.edu	37	19	57328787	57328787	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:57328787G>C	ENST00000326441.9	-	10	1386	c.1023C>G	c.(1021-1023)ttC>ttG	p.F341L	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F341L|PEG3_ENST00000593695.1_Missense_Mutation_p.F215L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.F217L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	341					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCTGGGGAATCTCTGTG	0.473																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1021-1023)ttC>ttG		paternally expressed 3							77.0	71.0	73.0					19																	57328787		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328787G>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1023C>G	19.37:g.57328787G>C	ENSP00000326581:p.Phe341Leu					ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F341L|PEG3_ENST00000593695.1_Missense_Mutation_p.F215L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.F217L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	p.F341L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1386	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	341					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1023C>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	7.308	0.614343	0.14129	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02369	4.32;4.32	4.27	3.23	0.37069	.	0.613283	0.14688	N	0.304319	T	0.01800	0.0057	N	0.16656	0.425	.	.	.	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.10450	0.005;0.005;0.003	T	0.31052	-0.9957	9	0.10636	T	0.68	-3.8193	5.9555	0.19271	0.1025:0.1949:0.7026:0.0	.	217;341;276	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	341;341;311	ENSP00000326581:F341L;ENSP00000403051:F341L	ENSP00000292074:F311L	F	-	3	2	ZIM2	62020599	0.262000	0.24073	0.370000	0.25965	0.654000	0.38779	3.003000	0.49505	1.384000	0.46424	0.561000	0.74099	TTC		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			12	83	0	0	0	0.093190	0	12	83				
NBAS	51594	broad.mit.edu	37	2	15415898	15415898	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:15415898C>G	ENST00000281513.5	-	44	5459	c.5434G>C	c.(5434-5436)Gaa>Caa	p.E1812Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E1692Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1812					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCCAATGCTTCAAGAGGACTC	0.373																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(5434-5436)Gaa>Caa		neuroblastoma amplified sequence							61.0	64.0	63.0					2																	15415898		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15415898C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5434G>C	2.37:g.15415898C>G	ENSP00000281513:p.Glu1812Gln					NBAS_ENST00000441750.1_Missense_Mutation_p.E1692Q	p.E1812Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			44	5459	-			1812					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.5434G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.236223|3.236223	0.58886|0.58886	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|T	0.09911|0.26810	2.93;3.1|1.71	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.367225|.	0.33005|.	N|.	0.005383|.	T|T	0.42765|0.42765	0.1217|0.1217	L|L	0.54323|0.54323	1.7|1.7	0.48511|0.48511	D|D	0.999665|0.999665	P;B|.	0.47350|.	0.894;0.411|.	B;B|.	0.43225|.	0.412;0.07|.	T|T	0.03103|0.03103	-1.1072|-1.1072	10|7	0.87932|0.35671	D|T	0|0.21	.|.	19.6592|19.6592	0.95857|0.95857	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1692;1812|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	Q|F	1692;1812|859	ENSP00000413201:E1692Q;ENSP00000281513:E1812Q|ENSP00000398411:L859F	ENSP00000281513:E1812Q|ENSP00000398411:L859F	E|L	-|-	1|3	0|2	NBAS|NBAS	15333349|15333349	0.398000|0.398000	0.25279|0.25279	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	4.356000|4.356000	0.59430|0.59430	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GAA|TTG		0.373	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		11	76	0	0	0	0.069234	0	11	76				
OR6M1	390261	broad.mit.edu	37	11	123676380	123676380	+	Silent	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:123676380G>A	ENST00000309154.2	-	1	715	c.678C>T	c.(676-678)ccC>ccT	p.P226P		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	226						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(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCTGGGTGGAGGGGATACGCA	0.498																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(676-678)ccC>ccT		olfactory receptor, family 6, subfamily M, member 1							79.0	67.0	71.0					11																	123676380		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676380G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.678C>T	11.37:g.123676380G>A							p.P226P	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	715	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	226					B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.678C>T	CCDS31696.1																																																																																				0.498	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		5	21	0	0	0	0.014758	0	5	21				
C3orf30	152405	broad.mit.edu	37	3	118865322	118865322	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:118865322G>A	ENST00000295622.1	+	1	326	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	96										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAACCCTGCTGATGTTTCTGA	0.473																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(286-288)Gat>Aat		chromosome 3 open reading frame 30							49.0	46.0	47.0					3																	118865322		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865322G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.286G>A	3.37:g.118865322G>A	ENSP00000295622:p.Asp96Asn						p.D96N	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	326	+			96					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.286G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.576645	0.00887	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.21031	2.03	2.91	-5.83	0.02325	.	.	.	.	.	T	0.05273	0.0140	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36089	-0.9762	9	0.20519	T	0.43	.	4.5666	0.12189	0.1428:0.1295:0.5985:0.1292	.	96;96	E9PFE5;Q96M34	.;CC030_HUMAN	N	96	ENSP00000295622:D96N	ENSP00000295622:D96N	D	+	1	0	C3orf30	120348012	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.735000	0.04888	-1.690000	0.01432	-1.447000	0.01057	GAT		0.473	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		5	31	0	0	0	0.014758	0	5	31				
ITIH2	3698	broad.mit.edu	37	10	7774362	7774362	+	Missense_Mutation	SNP	C	C	T	rs150529114		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr10:7774362C>T	ENST00000358415.4	+	14	1875	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	570					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S570L(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCTATCGAAAGACAAG	0.488																																						ENST00000358415.4																			1	Substitution - Missense(1)	p.S570L(1)	skin(1)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(1708-1710)tCg>tTg		inter-alpha-trypsin inhibitor heavy chain 2							98.0	87.0	91.0					10																	7774362		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7774362C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1709C>T	10.37:g.7774362C>T	ENSP00000351190:p.Ser570Leu					ITIH2_ENST00000379587.4_Missense_Mutation_p.S559L	p.S570L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			14	1875	+			570					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.1709C>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342789	0.41498	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.11604	2.76;2.76	5.32	5.32	0.75619	.	0.320760	0.30347	N	0.009836	T	0.08268	0.0206	L	0.43923	1.385	0.26822	N	0.968763	P	0.43750	0.816	B	0.31101	0.124	T	0.32666	-0.9898	10	0.32370	T	0.25	-15.174	12.2092	0.54369	0.2889:0.7111:0.0:0.0	.	570	P19823	ITIH2_HUMAN	L	570;559	ENSP00000351190:S570L;ENSP00000368906:S559L	ENSP00000351190:S570L	S	+	2	0	ITIH2	7814368	0.851000	0.29673	0.632000	0.29296	0.905000	0.53344	1.602000	0.36783	2.498000	0.84270	0.643000	0.83706	TCG		0.488	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		4	27	0	0	0	0.014758	0	4	27				
MC2R	4158	broad.mit.edu	37	18	13884716	13884716	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:13884716T>A	ENST00000327606.3	-	2	982	c.802A>T	c.(802-804)Aat>Tat	p.N268Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	268					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGACGGCATTGCACATGATC	0.502																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(802-804)Aat>Tat		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						118.0	107.0	111.0					18																	13884716		2203	4300	6503	SO:0001583	missense	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884716T>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.802A>T	18.37:g.13884716T>A	ENSP00000333821:p.Asn268Tyr						p.N268Y	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	982	-			268					A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	ENST00000327606.3	37	c.802A>T	CCDS11869.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500666	0.64298	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.47869	0.83	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.052550	0.85682	D	0.000000	T	0.71609	0.3360	M	0.89287	3.02	0.38117	D	0.937749	D	0.67145	0.996	D	0.64687	0.928	T	0.80915	-0.1169	10	0.87932	D	0	.	14.81	0.69989	0.0:0.0:0.0:1.0	.	268	Q01718	ACTHR_HUMAN	Y	268	ENSP00000333821:N268Y	ENSP00000333821:N268Y	N	-	1	0	MC2R	13874716	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	3.856000	0.55964	1.904000	0.55121	0.533000	0.62120	AAT		0.502	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			23	69	0	0	0	0.091800	0	23	69				
CHAF1A	10036	broad.mit.edu	37	19	4431980	4431980	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr19:4431980G>A	ENST00000301280.5	+	12	2080	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	660	Binds to p60.|Necessary for homodimerization and competence for chromatin assembly.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATAAGGTCCGCCAGAAACTG	0.562								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1978-1980)cGc>cAc	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							84.0	81.0	82.0					19																	4431980		2203	4300	6503	SO:0001583	missense	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4431980G>A	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1979G>A	19.37:g.4431980G>A	ENSP00000301280:p.Arg660His					CHAF1A_ENST00000587368.1_3'UTR	p.R660H	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	12	2080	+		Hepatocellular(1079;0.137)	660			Binds to p60.|Necessary for homodimerization and competence for chromatin assembly.		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	ENST00000301280.5	37	c.1979G>A	CCDS32875.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671685	0.47781	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.17528	2.27	4.71	3.64	0.41730	.	.	.	.	.	T	0.11965	0.0291	L	0.32530	0.975	0.49389	D	0.999787	P	0.50710	0.938	B	0.35240	0.198	T	0.07139	-1.0788	9	0.87932	D	0	-32.3913	12.7846	0.57498	0.0812:0.0:0.9188:0.0	.	660	Q13111	CAF1A_HUMAN	H	660	ENSP00000301280:R660H	ENSP00000301280:R660H	R	+	2	0	CHAF1A	4382980	1.000000	0.71417	0.729000	0.30791	0.539000	0.34962	6.260000	0.72502	1.297000	0.44761	0.561000	0.74099	CGC		0.562	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		4	112	0	0	0	0.009096	0	4	112				
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			2	4						2	4	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185190964	185190964	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:185190964delA	ENST00000265026.3	+	11	2179	c.1845delA	c.(1843-1845)tcafs	p.S615fs	MAP3K13_ENST00000535426.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000446828.1_Frame_Shift_Del_p.S408fs|MAP3K13_ENST00000424227.1_Frame_Shift_Del_p.S615fs|MAP3K13_ENST00000443863.1_Frame_Shift_Del_p.S471fs	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGGAAAATTCACCCCATCCCA	0.532																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1843-1845)tcfs		mitogen-activated protein kinase kinase kinase 13							313.0	334.0	327.0					3																	185190964		2203	4300	6503	SO:0001589	frameshift_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185190964delA	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1845delA	3.37:g.185190964delA	ENSP00000265026:p.Ser615fs					MAP3K13_ENST00000443863.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000424227.1_Frame_Shift_Del_p.S615fs|MAP3K13_ENST00000535426.1_Frame_Shift_Del_p.S471fs|MAP3K13_ENST00000446828.1_Frame_Shift_Del_p.S408fs	p.S615fs	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	2179	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		615						Frame_Shift_Del	DEL	ENST00000265026.3	37	c.1845delA	CCDS3270.1																																																																																				0.532	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		7	1226						7	1226	---	---	---	---
MB21D2	151963	broad.mit.edu	37	3	192517004	192517004	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr3:192517004delT	ENST00000392452.2	-	2	967	c.647delA	c.(646-648)aatfs	p.N216fs		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	216							protein complex binding (GO:0032403)	p.N214fs*11(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATGGTCCCATTTTTTTCCAC	0.463																																						ENST00000392452.2																			1	Deletion - Frameshift(1)	p.N214fs*11(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						c.(646-648)atfs		Mab-21 domain containing 2							160.0	147.0	151.0					3																	192517004		2203	4300	6503	SO:0001589	frameshift_variant	151963							g.chr3:192517004delT	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.647delA	3.37:g.192517004delT	ENSP00000376246:p.Asn216fs						p.N216fs	NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN			2	967	-			216					Q86VD8	Frame_Shift_Del	DEL	ENST00000392452.2	37	c.647delA	CCDS3302.2																																																																																				0.463	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		8	382						8	382	---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36882411	36882411	+	Frame_Shift_Del	DEL	T	T	-	rs557741034		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:36882411delT	ENST00000480824.2	+	6	931	c.637delT	c.(637-639)tttfs	p.F214fs	C6orf89_ENST00000373685.1_Frame_Shift_Del_p.F214fs|C6orf89_ENST00000359359.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.F221fs			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	214					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CTCTGAAGGGTTTTTCGCCAA	0.542																																						ENST00000480824.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						c.(637-639)ttfs		chromosome 6 open reading frame 89							177.0	186.0	183.0					6																	36882411		2203	4300	6503	SO:0001589	frameshift_variant	221477					integral to membrane		g.chr6:36882411delT	AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.637delT	6.37:g.36882411delT	ENSP00000475947:p.Phe214fs					C6orf89_ENST00000373685.1_Frame_Shift_Del_p.F214fs|C6orf89_ENST00000355190.3_Frame_Shift_Del_p.F221fs|C6orf89_ENST00000510325.2_Frame_Shift_Del_p.F108fs|C6orf89_ENST00000359359.2_Frame_Shift_Del_p.F108fs	p.F214fs			Q6UWU4	CF089_HUMAN			6	931	+			214					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Del	DEL	ENST00000480824.2	37	c.637delT																																																																																					0.542	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2	NM_152734		7	326						7	326	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90426527	90426528	+	Splice_Site	DEL	CT	CT	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr6:90426527_90426528delCT	ENST00000369393.3	-	44	6699_6700	c.6584_6585delAG	c.(6583-6585)gag>g	p.E2195fs	MDN1_ENST00000428876.1_Splice_Site_p.E2195fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2195					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGGCAAACTCTGAAATGTC	0.421																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.e44-1		MDN1, midasin homolog (yeast)																																				SO:0001630	splice_region_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90426527_90426528delCT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6584-1AG>-	6.37:g.90426529_90426530delCT						MDN1_ENST00000428876.1_Splice_Site_p.E2195_splice	p.E2195_splice			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	44	6699_6700	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2195					O15019|Q5T794	Splice_Site	DEL	ENST00000369393.3	37	c.6583_splice	CCDS5024.1																																																																																				0.421	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		Frame_Shift_Del	13	59						13	59	---	---	---	---
INTS4L1	285905	broad.mit.edu	37	7	64673010	64673011	+	RNA	INS	-	-	T			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr7:64673010_64673011insT	ENST00000587624.1	+	0	1437							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		GAATCATAGGATTTTCCTCTTG	0.48																																						ENST00000587624.1																			0																																																			285905							g.chr7:64673010_64673011insT			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64673014_64673014dupT														0	1437	+									RNA	INS	ENST00000587624.1	37																																																																																						0.480	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	pseudogene	OTTHUMT00000460821.1	XR_041315		10	36						10	36	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110450902	110450902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr11:110450902delA	ENST00000260283.4	-	16	3052	c.2768delT	c.(2767-2769)ttafs	p.L923fs	ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.L466fs|ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.L900fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.L897fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	923					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTTGGGGGTAAAACCTTCTC	0.493																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(2767-2769)tafs		Rho GTPase activating protein 20							147.0	143.0	144.0					11																	110450902		2201	4298	6499	SO:0001589	frameshift_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450902delA	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2768delT	11.37:g.110450902delA	ENSP00000260283:p.Leu923fs					ARHGAP20_ENST00000527598.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000357139.3_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000528829.1_Frame_Shift_Del_p.L887fs|ARHGAP20_ENST00000533353.1_Frame_Shift_Del_p.L897fs|ARHGAP20_ENST00000529591.1_Frame_Shift_Del_p.L466fs|ARHGAP20_ENST00000524756.1_Frame_Shift_Del_p.L900fs	p.L923fs	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3052	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	923					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Frame_Shift_Del	DEL	ENST00000260283.4	37	c.2768delT	CCDS31673.1																																																																																				0.493	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		30	104						30	104	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-CR-6487-01A-11D-1870-08	TCGA-CR-6487-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4df06d7-97e1-4f22-83a7-993fdcd3a4da	fc5e7544-cc5f-4877-b0c3-82221acd39b6	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		2	4						2	4	---	---	---	---
