#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
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597																																						ENST00000265441.3																			0				breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31						c.(154-156)cGg>cAg		wingless-type MMTV integration site family member 2							54.0	45.0	48.0					7																	116960776		2203	4300	6503	SO:0001583	missense	7472				atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	g.chr7:116960776C>T	X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.155G>A	7.37:g.116960776C>T	ENSP00000265441:p.Arg52Gln					AC002465.2_ENST00000436097.1_RNA	p.R52Q	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	2	454	-	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		52					A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	c.155G>A	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	WNT2	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		9	29	0	0	0	0.008291	0	9	29				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	18	0	0	0	0.000602	0	4	18				
CSHL1	1444	broad.mit.edu	37	17	61987091	61987091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	ENST00000309894.5	-	5	648	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CSHL1_ENST00000438387.2_Missense_Mutation_p.E134K|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000259003.10_Missense_Mutation_p.E155K|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E123K	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	217						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632																																						ENST00000259003.10																			0				endometrium(3)|lung(6)	9						c.(463-465)Gag>Aag		chorionic somatomammotropin hormone-like 1							90.0	84.0	86.0					17																	61987091		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987091C>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.649G>A	17.37:g.61987091C>T	ENSP00000309524:p.Glu217Lys					CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E123K|CSHL1_ENST00000438387.2_Missense_Mutation_p.E134K|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.E217K|CSHL1_ENST00000561003.1_3'UTR	p.E155K			Q14406	CSHL_HUMAN			5	607	-			217					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.463G>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	c	12.51	1.960625	0.34565	.	.	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606	D;D;D	0.88354	-2.37;-2.37;-2.37	3.6	3.6	0.41247	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	18.707400	0.00166	N	0.000001	D	0.94288	0.8165	H	0.94222	3.51	0.80722	D	1	B;B;B;B	0.25272	0.1;0.1;0.122;0.046	B;B;B;B	0.33339	0.045;0.1;0.162;0.069	T	0.81879	-0.0730	10	0.72032	D	0.01	.	14.1399	0.65313	0.0:1.0:0.0:0.0	.	123;134;217;194	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	K	217;134;212;123	ENSP00000309524:E217K;ENSP00000402632:E134K;ENSP00000316360:E123K	ENSP00000259003:E212K	E	-	1	0	GH1	59340823	1.000000	0.71417	0.715000	0.30552	0.112000	0.19704	3.433000	0.52834	1.730000	0.51580	0.305000	0.20034	GAG		0.632	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		41	65	0	0	0	0.006999	0	41	65				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	42	0	0	0	0.001168	0	3	42				
USP53	54532	broad.mit.edu	37	4	120214081	120214081	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	ENST00000274030.6	+	19	4116	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_ENST00000450251.1_Missense_Mutation_p.D979E	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393																																						ENST00000450251.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						c.(2935-2937)gaT>gaA		ubiquitin specific peptidase 53							95.0	89.0	91.0					4																	120214081		1922	4135	6057	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120214081T>A	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2937T>A	4.37:g.120214081T>A	ENSP00000274030:p.Asp979Glu					USP53_ENST00000274030.6_Missense_Mutation_p.D979E	p.D979E			Q70EK8	UBP53_HUMAN			15	3481	+			979						Missense_Mutation	SNP	ENST00000274030.6	37	c.2937T>A	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	T	6.979	0.550601	0.13374	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.39056	1.1;1.1	4.82	-2.96	0.05547	.	0.647232	0.14818	N	0.296664	T	0.16385	0.0394	L	0.28274	0.84	0.21105	N	0.99979	B	0.02656	0.0	B	0.04013	0.001	T	0.28427	-1.0044	10	0.02654	T	1	-5.7495	0.2136	0.00159	0.2248:0.1874:0.2506:0.3371	.	979	Q70EK8	UBP53_HUMAN	E	979	ENSP00000274030:D979E;ENSP00000409906:D979E	ENSP00000274030:D979E	D	+	3	2	USP53	120433529	0.706000	0.27856	0.144000	0.22314	0.776000	0.43924	-0.065000	0.11617	-0.200000	0.10300	0.477000	0.44152	GAT		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		9	49	0	0	0	0.004482	0	9	49				
CFP	5199	broad.mit.edu	37	X	47487019	47487019	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	ENST00000396992.3	-	4	545	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.W142L|CFP_ENST00000377005.2_Missense_Mutation_p.W142L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	142	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632																																						ENST00000247153.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(424-426)tGg>tTg		complement factor properdin							14.0	14.0	14.0					X																	47487019		2198	4288	6486	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47487019C>A	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.425G>T	X.37:g.47487019C>A	ENSP00000380189:p.Trp142Leu					CFP_ENST00000377005.2_Missense_Mutation_p.W142L|CFP_ENST00000396992.3_Missense_Mutation_p.W142L	p.W142L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN			5	666	-			142			TSP type-1 2.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.425G>T	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507012	0.64410	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.97110	1.0;0.904	D	0.91599	0.5293	10	0.87932	D	0	.	14.562	0.68148	0.0:1.0:0.0:0.0	.	78;142	B3KVK6;P27918	.;PROP_HUMAN	L	142;142;142;7	ENSP00000380189:W142L;ENSP00000247153:W142L;ENSP00000366204:W142L;ENSP00000418258:W7L	ENSP00000247153:W142L	W	-	2	0	CFP	47371963	1.000000	0.71417	0.982000	0.44146	0.271000	0.26615	5.409000	0.66374	2.517000	0.84864	0.600000	0.82982	TGG		0.632	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		7	16	1	0	0.00198382	0.001984	0.00296628	7	16				
SMPD2	6610	broad.mit.edu	37	6	109764076	109764076	+	Missense_Mutation	SNP	C	C	T	rs139839878		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:109764076C>T	ENST00000258052.3	+	7	972	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	205					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCTTGAAACTCGGGACTTCAA	0.542																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(613-615)Cgg>Tgg		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)		C	TRP/ARG	0,4406		0,0,2203	167.0	126.0	140.0		613	4.0	0.0	6	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense	SMPD2	NM_003080.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	205/424	109764076	1,13005	2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109764076C>T	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.613C>T	6.37:g.109764076C>T	ENSP00000258052:p.Arg205Trp						p.R205W	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	7	972	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	205					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.613C>T	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587300	0.28268	0.0	1.16E-4	ENSG00000135587	ENST00000258052	T	0.81247	-1.47	5.95	4.04	0.47022	Endonuclease/exonuclease/phosphatase (2);	0.566626	0.18723	N	0.132964	T	0.55242	0.1908	N	0.14661	0.345	0.09310	N	1	D	0.61697	0.99	P	0.47075	0.536	T	0.53408	-0.8443	10	0.66056	D	0.02	-8.8238	8.2674	0.31821	0.2777:0.5679:0.1544:0.0	.	205	O60906	NSMA_HUMAN	W	205	ENSP00000258052:R205W	ENSP00000258052:R205W	R	+	1	2	SMPD2	109870769	0.000000	0.05858	0.014000	0.15608	0.187000	0.23431	0.491000	0.22419	1.485000	0.48380	0.655000	0.94253	CGG		0.542	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			10	137	0	0	0	0.006214	0	10	137				
SPRR2G	6706	broad.mit.edu	37	1	153122438	153122438	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	ENST00000368748.4	-	2	187	c.149C>T	c.(148-150)cCa>cTa	p.P50L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	50					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567																																						ENST00000368748.4																			0				endometrium(1)|lung(1)|skin(1)	3						c.(148-150)cCa>cTa		small proline-rich protein 2G							179.0	140.0	153.0					1																	153122438		2203	4300	6503	SO:0001583	missense	0				keratinization	cornified envelope|cytoplasm		g.chr1:153122438G>A	AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.149C>T	1.37:g.153122438G>A	ENSP00000357737:p.Pro50Leu						p.P50L	NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	187	-	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		50						Missense_Mutation	SNP	ENST00000368748.4	37	c.149C>T	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721799	0.15372	.	.	ENSG00000159516	ENST00000368748	T	0.31247	1.5	4.66	-9.32	0.00643	.	.	.	.	.	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	8	0.87932	D	0	25.1383	4.4194	0.11472	0.0936:0.2525:0.5194:0.1346	.	50	Q9BYE4	SPR2G_HUMAN	L	50	ENSP00000357737:P50L	ENSP00000357737:P50L	P	-	2	0	SPRR2G	151389062	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.259000	0.00536	-2.376000	0.00598	-0.407000	0.06327	CCA		0.567	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			23	111	0	0	0	0.002780	0	23	111				
FOLH1	2346	broad.mit.edu	37	11	49207240	49207240	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	ENST00000256999.2	-	6	1067	c.807A>G	c.(805-807)acA>acG	p.T269T	FOLH1_ENST00000340334.7_Silent_p.T254T|FOLH1_ENST00000356696.3_Silent_p.T269T|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Silent_p.T254T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	269					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGTAACCTGGTGTGAGAGGGT	0.428																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(760-762)acA>acG		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						55.0	56.0	56.0					11																	49207240		2201	4298	6499	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207240T>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.807A>G	11.37:g.49207240T>C						FOLH1_ENST00000356696.3_Silent_p.T269T|FOLH1_ENST00000256999.2_Silent_p.T269T|FOLH1_ENST00000533034.1_Silent_p.T254T|FOLH1_ENST00000343844.4_Intron	p.T254T	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			7	1130	-			269					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.762A>G	CCDS7946.1																																																																																				0.428	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		12	29	0	0	0	0.001855	0	12	29				
CLSTN1	22883	broad.mit.edu	37	1	9794036	9794036	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	ENST00000377298.4	-	15	3067	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000377288.3_Missense_Mutation_p.F740V|CLSTN1_ENST00000361311.4_Missense_Mutation_p.F749V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	759					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(2275-2277)Ttc>Gtc		calsyntenin 1							96.0	77.0	83.0					1																	9794036		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9794036A>C	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2275T>G	1.37:g.9794036A>C	ENSP00000366513:p.Phe759Val					CLSTN1_ENST00000377288.3_Missense_Mutation_p.F740V|CLSTN1_ENST00000361311.4_Missense_Mutation_p.F749V	p.F759V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	15	3067	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	759					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.2275T>G	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310477	0.40895	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.13	1.33	0.21861	.	0.269632	0.41294	D	0.000914	T	0.08626	0.0214	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.10382	-1.0632	10	0.35671	T	0.21	-19.6771	3.7602	0.08601	0.405:0.0:0.3097:0.2853	.	740;749;759	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	V	759;749;560;740;740	ENSP00000366513:F759V;ENSP00000354997:F749V;ENSP00000401934:F560V;ENSP00000366502:F740V	ENSP00000354997:F749V	F	-	1	0	CLSTN1	9716623	1.000000	0.71417	0.580000	0.28601	0.995000	0.86356	2.073000	0.41519	0.320000	0.23234	0.533000	0.62120	TTC		0.612	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			16	78	0	0	0	0.007413	0	16	78				
AP4E1	23431	broad.mit.edu	37	15	51260560	51260560	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	ENST00000261842.5	+	15	2058	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_ENST00000560508.1_Missense_Mutation_p.L576R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	651					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1951-1953)cTt>cGt		adaptor-related protein complex 4, epsilon 1 subunit							42.0	39.0	40.0					15																	51260560		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51260560T>G	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1952T>G	15.37:g.51260560T>G	ENSP00000261842:p.Leu651Arg					AP4E1_ENST00000560508.1_Missense_Mutation_p.L576R	p.L651R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	15	2058	+			651					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1952T>G	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583530	0.65992	.	.	ENSG00000081014	ENST00000261842	T	0.13901	2.55	4.85	4.85	0.62838	Armadillo-type fold (1);	0.073753	0.56097	D	0.000028	T	0.28896	0.0717	M	0.73598	2.24	0.58432	D	0.999997	D	0.61697	0.99	P	0.57101	0.813	T	0.09037	-1.0693	10	0.17832	T	0.49	-11.5957	13.636	0.62223	0.0:0.0:0.0:1.0	.	651	Q9UPM8	AP4E1_HUMAN	R	651	ENSP00000261842:L651R	ENSP00000261842:L651R	L	+	2	0	AP4E1	49047852	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.707000	0.74654	1.808000	0.52836	0.460000	0.39030	CTT		0.373	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	14	0	0	0	0.001984	0	6	14				
FOXP2	93986	broad.mit.edu	37	7	114282537	114282537	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	ENST00000393494.2	+	7	1127	c.848G>A	c.(847-849)gGc>gAc	p.G283D	FOXP2_ENST00000403559.4_Missense_Mutation_p.G300D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G262D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G307D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393500.3_Missense_Mutation_p.G208D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G283D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G308D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G191D			O15409	FOXP2_HUMAN	forkhead box P2	283					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428																																						ENST00000393500.3																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(622-624)gGc>gAc		forkhead box P2							206.0	183.0	191.0					7																	114282537		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282537G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.848G>A	7.37:g.114282537G>A	ENSP00000377132:p.Gly283Asp					FOXP2_ENST00000393498.2_Missense_Mutation_p.G262D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G283D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G307D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G191D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G283D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G308D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393494.2_Missense_Mutation_p.G283D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G283D|FOXP2_ENST00000403559.4_Missense_Mutation_p.G300D	p.G208D			O15409	FOXP2_HUMAN			13	1443	+			283			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.623G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292946	0.60086	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;1.24;0.99;0.99;0.99;0.99	4.86	2.99	0.34606	.	0.145318	0.64402	D	0.000007	T	0.49236	0.1545	L	0.37630	1.12	0.58432	D	0.999999	B;B;B;D;B;B;B	0.76494	0.001;0.001;0.0;0.999;0.003;0.001;0.001	B;B;B;D;B;B;B	0.71414	0.001;0.001;0.001;0.973;0.003;0.001;0.002	T	0.35301	-0.9794	10	0.40728	T	0.16	.	10.1939	0.43043	0.0752:0.1369:0.7879:0.0	.	282;300;191;283;307;283;308	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	D	208;283;308;300;283;260;283;191;283;140;307;191	ENSP00000377137:G208D;ENSP00000377132:G283D;ENSP00000386200:G308D;ENSP00000385069:G300D;ENSP00000265436:G283D;ENSP00000367482:G283D;ENSP00000377129:G191D;ENSP00000353367:G283D;ENSP00000375084:G307D;ENSP00000377130:G191D	ENSP00000265436:G283D	G	+	2	0	FOXP2	114069773	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.540000	0.82074	0.534000	0.28695	-0.384000	0.06662	GGC		0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		33	56	0	0	0	0.013726	0	33	56				
ADAR	103	broad.mit.edu	37	1	154560602	154560602	+	Splice_Site	SNP	G	G	A	rs151241634	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:154560602G>A	ENST00000368474.4	-	11	3217	c.3018C>T	c.(3016-3018)aaC>aaT	p.N1006N	ADAR_ENST00000368471.3_Splice_Site_p.N711N|ADAR_ENST00000292205.5_Splice_Site_p.N1049N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1006	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATCACTCACCGTTCTCCACCT	0.537													G|||	4	0.000798722	0.0	0.0014	5008	,	,		19028	0.0		0.002	False		,,,				2504	0.001					ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.e11+1		adenosine deaminase, RNA-specific		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	252.0	228.0	236.0		2133,3018,2133,2940,2883	-1.1	1.0	1	dbSNP_134	236	7,8593	5.7+/-21.5	0,7,4293	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ADAR	NM_001025107.2,NM_001111.4,NM_001193495.1,NM_015840.3,NM_015841.3	,,,,	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	,,,,	711/932,1006/1227,711/932,980/1201,961/1182	154560602	8,12998	2203	4300	6503	SO:0001630	splice_region_variant	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154560602G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3019+1C>T	1.37:g.154560602G>A						ADAR_ENST00000368471.3_Splice_Site_p.N711_splice|ADAR_ENST00000292205.5_Splice_Site_p.N1049_splice	p.N1006_splice	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	11	3217	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1006			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Splice_Site	SNP	ENST00000368474.4	37	c.3019_splice	CCDS1071.1																																																																																				0.537	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111	Silent	10	402	0	0	0	0.008291	0	10	402				
CASC5	57082	broad.mit.edu	37	15	40914116	40914116	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	ENST00000346991.5	+	11	2122	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_ENST00000399668.2_Missense_Mutation_p.S552P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	578	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1732-1734)Tca>Cca		cancer susceptibility candidate 5							68.0	63.0	65.0					15																	40914116		1868	4110	5978	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40914116T>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1732T>C	15.37:g.40914116T>C	ENSP00000335463:p.Ser578Pro					CASC5_ENST00000399668.2_Missense_Mutation_p.S552P|CASC5_ENST00000527044.1_3'UTR	p.S578P			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	2122	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	578			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.1732T>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	6.702	0.498107	0.12762	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.17691	2.26;2.26	5.03	-2.87	0.05700	.	1.876320	0.02553	N	0.095811	T	0.08133	0.0203	N	0.11927	0.2	0.09310	N	1	P;B;B	0.38420	0.63;0.399;0.399	B;B;B	0.31495	0.131;0.092;0.092	T	0.14504	-1.0470	10	0.52906	T	0.07	.	4.001	0.09580	0.3394:0.0:0.3803:0.2803	.	552;578;552	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	P	578;552;552	ENSP00000335463:S578P;ENSP00000382576:S552P	ENSP00000260369:S552P	S	+	1	0	CASC5	38701408	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.106000	0.15354	-0.787000	0.04510	-0.472000	0.04984	TCA		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		10	48	0	0	0	0.010729	0	10	48				
GPR116	221395	broad.mit.edu	37	6	46826760	46826760	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	ENST00000283296.7	-	17	3168	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_ENST00000265417.7_Silent_p.R960R|GPR116_ENST00000362015.4_Silent_p.R960R|GPR116_ENST00000545669.1_Silent_p.R389R|GPR116_ENST00000456426.2_Silent_p.R818R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	960	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2878-2880)agG>agA		G protein-coupled receptor 116							100.0	88.0	92.0					6																	46826760		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826760C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2880G>A	6.37:g.46826760C>T						GPR116_ENST00000362015.4_Silent_p.R960R|GPR116_ENST00000265417.7_Silent_p.R960R|GPR116_ENST00000545669.1_Silent_p.R389R|GPR116_ENST00000456426.2_Silent_p.R818R	p.R960R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3168	-			960			GPS.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.2880G>A	CCDS4919.1																																																																																				0.478	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		16	97	0	0	0	0.004007	0	16	97				
OBSCN	84033	broad.mit.edu	37	1	228404888	228404888	+	Missense_Mutation	SNP	C	C	T	rs373325473	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	ENST00000422127.1	+	8	2596	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T851M|OBSCN_ENST00000570156.2_Missense_Mutation_p.T851M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	851	Ig-like 8.				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)				GATGTGGGGACGCGGCACCGG	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		15494	0.002		0.0	False		,,,				2504	0.0					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.(2551-2553)aCg>aTg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF		C	MET/THR,MET/THR	0,4294		0,0,2147	52.0	61.0	58.0		2552,2552	3.8	0.0	1		58	1,8507		0,1,4253	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	81,81	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging	851/7969,851/6621	228404888	1,12801	2147	4254	6401	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228404888C>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.2552C>T	1.37:g.228404888C>T	ENSP00000409493:p.Thr851Met					OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T851M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T851M	p.T851M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			8	2626	+		Prostate(94;0.0405)	851			Ig-like 8.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.2552C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.555	0.470672	0.12461	0.0	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67523	-0.27;-0.27	4.94	3.76	0.43208	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.506961	0.18319	N	0.144850	T	0.71013	0.3290	L	0.61218	1.895	0.09310	N	0.999998	P;D	0.76494	0.95;0.999	P;P	0.60117	0.475;0.869	T	0.60177	-0.7314	10	0.39692	T	0.17	.	4.2505	0.10693	0.3063:0.55:0.0:0.1437	.	851;851	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	851	ENSP00000284548:T851M;ENSP00000409493:T851M	ENSP00000284548:T851M	T	+	2	0	OBSCN	226471511	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.120000	0.10660	0.968000	0.38212	0.655000	0.94253	ACG		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	106	0	0	0	0.004007	0	14	106				
AMMECR1	9949	broad.mit.edu	37	X	109459855	109459855	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	ENST00000262844.5	-	3	757	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_ENST00000372059.2_Missense_Mutation_p.L160P|AMMECR1_ENST00000372057.1_Missense_Mutation_p.L74P	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	197	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(589-591)cTt>cCt		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1							68.0	62.0	64.0					X																	109459855		2203	4300	6503	SO:0001583	missense	9949							g.chrX:109459855A>G	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.590T>C	X.37:g.109459855A>G	ENSP00000262844:p.Leu197Pro					AMMECR1_ENST00000372059.2_Missense_Mutation_p.L160P|AMMECR1_ENST00000372057.1_Missense_Mutation_p.L74P	p.L197P	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			3	757	-			197			AMMECR1.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	c.590T>C	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432755	0.83776	.	.	ENSG00000101935	ENST00000262844;ENST00000372059;ENST00000372057	.	.	.	5.75	5.75	0.90469	AMMECR1 domain (2);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.986	D	0.89764	0.3949	9	0.87932	D	0	-28.8197	15.0142	0.71570	1.0:0.0:0.0:0.0	.	160;197	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	P	197;160;74	.	ENSP00000262844:L197P	L	-	2	0	AMMECR1	109346511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	1.928000	0.55862	0.486000	0.48141	CTT		0.378	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			21	95	0	0	0	0.012319	0	21	95				
DNAH2	146754	broad.mit.edu	37	17	7643864	7643864	+	Silent	SNP	C	C	T	rs374548181		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	ENST00000572933.1	+	10	2963	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_ENST00000082259.3_Silent_p.R583R|DNAH2_ENST00000389173.2_Silent_p.R501R|DNAH2_ENST00000570791.1_Silent_p.R583R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(1501-1503)cgC>cgT		dynein, axonemal, heavy chain 2		C		0,4404		0,0,2202	63.0	57.0	59.0		1503	-5.6	0.4	17		59	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	DNAH2	NM_020877.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		501/4428	7643864	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643864C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1503C>T	17.37:g.7643864C>T						DNAH2_ENST00000389173.2_Silent_p.R501R|DNAH2_ENST00000082259.3_Silent_p.R583R|DNAH2_ENST00000570791.1_Silent_p.R583R	p.R501R			Q9P225	DYH2_HUMAN			10	2963	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	501			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.1503C>T	CCDS32551.1																																																																																				0.672	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		17	112	0	0	0	0.007413	0	17	112				
ZDBF2	57683	broad.mit.edu	37	2	207169761	207169761	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	ENST00000374423.3	+	5	895	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	170							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGGTCAGGCTACAAATAAT	0.423																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(508-510)gCt>gTt		zinc finger, DBF-type containing 2							54.0	52.0	53.0					2																	207169761		1851	4088	5939	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169761C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.509C>T	2.37:g.207169761C>T	ENSP00000363545:p.Ala170Val						p.A170V	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	895	+			170					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.509C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259081	0.59321	.	.	ENSG00000204186	ENST00000374423	T	0.16597	2.33	5.11	2.32	0.28847	.	1.667500	0.03943	N	0.287243	T	0.17066	0.0410	L	0.46157	1.445	0.09310	N	1	B	0.28636	0.218	B	0.24155	0.051	T	0.27054	-1.0085	10	0.56958	D	0.05	.	5.3097	0.15823	0.0:0.5917:0.1491:0.2592	.	170	Q9HCK1	ZDBF2_HUMAN	V	170	ENSP00000363545:A170V	ENSP00000363545:A170V	A	+	2	0	ZDBF2	206878006	0.012000	0.17670	0.134000	0.22075	0.127000	0.20565	0.003000	0.13083	0.183000	0.20059	-0.145000	0.13849	GCT		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		10	36	0	0	0	0.006214	0	10	36				
IRAK3	11213	broad.mit.edu	37	12	66638280	66638280	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	ENST00000261233.4	+	9	1323	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_ENST00000457197.2_Missense_Mutation_p.L240S	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(901-903)tTg>tCg		interleukin-1 receptor-associated kinase 3							104.0	96.0	99.0					12																	66638280		2203	4300	6503	SO:0001583	missense	0				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638280T>C	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.902T>C	12.37:g.66638280T>C	ENSP00000261233:p.Leu301Ser					IRAK3_ENST00000457197.2_Missense_Mutation_p.L240S	p.L301S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	9	1323	+			301			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.902T>C	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187810	0.57909	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.51574	0.7;0.7	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	T	0.80048	0.4552	H	0.98370	4.215	0.51767	D	0.999937	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86843	0.2018	9	.	.	.	-11.6108	12.2615	0.54652	0.0:0.0:0.0:1.0	.	240;301	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	S	301;240	ENSP00000261233:L301S;ENSP00000409852:L240S	.	L	+	2	0	IRAK3	64924547	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	5.365000	0.66116	2.152000	0.67230	0.533000	0.62120	TTG		0.393	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			16	50	0	0	0	0.006122	0	16	50				
LGALS3BP	3959	broad.mit.edu	37	17	76967757	76967757	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	ENST00000262776.3	-	6	1967	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	553					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.S553S(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			1	Substitution - coding silent(1)	p.S553S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1657-1659)tcG>tcA		lectin, galactoside-binding, soluble, 3 binding protein							65.0	60.0	61.0					17																	76967757		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967757C>T	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1659G>A	17.37:g.76967757C>T			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.S553S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1967	-			553					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1659G>A	CCDS11759.1																																																																																				0.612	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		24	43	0	0	0	0.003330	0	24	43				
ZNF585B	92285	broad.mit.edu	37	19	37676803	37676803	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	ENST00000532828.2	-	5	1887	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G491R|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G134R|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1636-1638)Gga>Aga		zinc finger protein 585B							63.0	65.0	64.0					19																	37676803		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676803C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1636G>A	19.37:g.37676803C>T	ENSP00000433773:p.Gly546Arg					ZNF585B_ENST00000312908.5_Missense_Mutation_p.G134R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G491R	p.G546R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1887	-			546					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1636G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724086	0.48728	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.26223	1.75;1.75;1.75	2.45	2.45	0.29901	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002450	T	0.43299	0.1241	M	0.63428	1.95	0.39917	D	0.974109	D;D	0.89917	0.998;1.0	P;D	0.74348	0.907;0.983	T	0.45498	-0.9257	10	0.66056	D	0.02	.	10.137	0.42712	0.0:1.0:0.0:0.0	.	491;546	E9PQH3;Q52M93	.;Z585B_HUMAN	R	491;546;134	ENSP00000436774:G491R;ENSP00000433773:G546R;ENSP00000442139:G134R	ENSP00000442139:G134R	G	-	1	0	ZNF585B	42368643	0.409000	0.25368	0.931000	0.37212	0.805000	0.45488	2.888000	0.48594	1.376000	0.46267	0.298000	0.19748	GGA		0.383	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		16	81	0	0	0	0.007413	0	16	81				
NT5E	4907	broad.mit.edu	37	6	86203685	86203685	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	ENST00000257770.3	+	9	1737	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_ENST00000369651.3_Missense_Mutation_p.L513P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	563					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353																																					Melanoma(140;797 1765 2035 2752 18208)	ENST00000257770.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1687-1689)cTt>cCt		5'-nucleotidase, ecto (CD73)	Pentoxifylline(DB00806)						72.0	76.0	75.0					6																	86203685		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86203685T>C	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1688T>C	6.37:g.86203685T>C	ENSP00000257770:p.Leu563Pro					NT5E_ENST00000369651.3_Missense_Mutation_p.L513P	p.L563P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	9	1737	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	563					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.1688T>C	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	T	8.560	0.877633	0.17395	.	.	ENSG00000135318	ENST00000257770;ENST00000369651	T;T	0.58358	0.44;0.34	5.79	5.79	0.91817	.	0.189294	0.47093	D	0.000249	T	0.32164	0.0820	L	0.56769	1.78	0.80722	D	1	B;B	0.27351	0.176;0.176	B;B	0.19391	0.025;0.025	T	0.43589	-0.9382	10	0.72032	D	0.01	-13.1395	8.4951	0.33123	0.0:0.0693:0.132:0.7987	.	513;563	B3KQI8;P21589	.;5NTD_HUMAN	P	563;513	ENSP00000257770:L563P;ENSP00000358665:L513P	ENSP00000257770:L563P	L	+	2	0	NT5E	86260404	0.991000	0.36638	0.883000	0.34634	0.118000	0.20060	2.444000	0.44890	2.218000	0.71995	0.533000	0.62120	CTT		0.353	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			12	90	0	0	0	0.001855	0	12	90				
POLA1	5422	broad.mit.edu	37	X	24830876	24830876	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	ENST00000379059.3	+	29	3189	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L	POLA1_ENST00000379068.3_Silent_p.L1064L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1058					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ACGCTGCTCTGGTTGTTGAGC	0.393																																						ENST00000379068.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11						c.(3190-3192)ctG>ctA		polymerase (DNA directed), alpha 1, catalytic subunit	Clofarabine(DB00631)|Fludarabine(DB01073)						107.0	101.0	103.0					X																	24830876		2203	4300	6503	SO:0001819	synonymous_variant	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24830876G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3174G>A	X.37:g.24830876G>A						POLA1_ENST00000379059.3_Silent_p.L1058L	p.L1064L			P09884	DPOLA_HUMAN			29	3235	+			1058					Q86UQ7	Silent	SNP	ENST00000379059.3	37	c.3192G>A	CCDS14214.1																																																																																				0.393	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		20	50	0	0	0	0.014323	0	20	50				
POLR3D	661	broad.mit.edu	37	8	22107627	22107627	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	ENST00000397802.4	+	7	1176	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_ENST00000306433.4_Missense_Mutation_p.L321M			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	321					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)		CCTGGCTGACCTGACAGAGGG	0.542																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(961-963)Ctg>Atg		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							84.0	80.0	82.0					8																	22107627		2203	4300	6503	SO:0001583	missense	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.chr8:22107627C>A	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.961C>A	8.37:g.22107627C>A	ENSP00000380904:p.Leu321Met					POLR3D_ENST00000306433.4_Missense_Mutation_p.L321M	p.L321M			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	7	1176	+			321					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.961C>A	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118931	0.56505	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.41	3.61	0.41365	.	0.069554	0.64402	D	0.000014	T	0.67571	0.2907	M	0.69248	2.105	0.50313	D	0.99986	D	0.69078	0.997	D	0.68621	0.959	T	0.63871	-0.6539	9	0.35671	T	0.21	-15.51	6.8571	0.24046	0.0:0.697:0.1442:0.1588	.	321	P05423	RPC4_HUMAN	M	321	.	ENSP00000303088:L321M	L	+	1	2	POLR3D	22163572	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.603000	0.36794	0.641000	0.30601	0.561000	0.74099	CTG		0.542	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		34	51	1	0	2.48696e-23	0.003271	4.15375e-23	34	51				
LAMA3	3909	broad.mit.edu	37	18	21489195	21489195	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	ENST00000313654.9	+	55	7335	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_ENST00000399516.3_Missense_Mutation_p.N2309S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N756S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N700S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2365	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCTTGGGAAACATCTCTGAC	0.453																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(7093-7095)aAc>aGc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						137.0	118.0	124.0					18																	21489195		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21489195A>G	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7094A>G	18.37:g.21489195A>G	ENSP00000324532:p.Asn2365Ser					LAMA3_ENST00000269217.6_Missense_Mutation_p.N756S|LAMA3_ENST00000587184.1_Missense_Mutation_p.N700S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2309S	p.N2365S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			55	7335	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2365			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.7094A>G	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098845	0.76870	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.37411	1.2;1.2;1.2	5.6	5.6	0.85130	Laminin II (1);	.	.	.	.	T	0.53642	0.1809	L	0.60845	1.875	0.53005	D	0.999963	D;D;D;D	0.69078	0.982;0.982;0.997;0.992	P;P;D;P	0.66196	0.665;0.665;0.942;0.832	T	0.47522	-0.9111	9	0.26408	T	0.33	.	15.7745	0.78204	1.0:0.0:0.0:0.0	.	700;756;2309;2365	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	S	2365;2309;756	ENSP00000324532:N2365S;ENSP00000382432:N2309S;ENSP00000269217:N756S	ENSP00000269217:N756S	N	+	2	0	LAMA3	19743193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.449000	0.80643	2.121000	0.65114	0.533000	0.62120	AAC		0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		13	69	0	0	0	0.013537	0	13	69				
GMDS	2762	broad.mit.edu	37	6	1726688	1726688	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	ENST00000380815.4	-	9	1218	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_ENST00000530927.1_Missense_Mutation_p.V287M	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	317					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507																																						ENST00000380815.4																		GMDS/PDE8B(2)	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21						c.(949-951)Gtg>Atg		GDP-mannose 4,6-dehydratase							264.0	227.0	240.0					6																	1726688		2203	4300	6503	SO:0001583	missense	2762				'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	g.chr6:1726688C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.949G>A	6.37:g.1726688C>T	ENSP00000370194:p.Val317Met					GMDS_ENST00000530927.1_Missense_Mutation_p.V287M	p.V317M	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)	9	1218	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	317					E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	c.949G>A	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113952	0.77210	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.85345	0.1098	9	0.66056	D	0.02	-0.8027	14.6095	0.68507	0.0:0.9285:0.0:0.0715	.	317	O60547	GMDS_HUMAN	M	287;317	.	ENSP00000370194:V317M	V	-	1	0	GMDS	1671687	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.062000	0.64326	2.573000	0.86826	0.563000	0.77884	GTG		0.507	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			30	160	0	0	0	0.003271	0	30	160				
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(919-921)Cgc>Tgc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							184.0	184.0	184.0					4																	73188757		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73188757G>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.919C>T	4.37:g.73188757G>A	ENSP00000286657:p.Arg307Cys					RP11-373J21.1_ENST00000503918.1_RNA	p.R307C	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		6	955	-			307			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.919C>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384852	0.82792	.	.	ENSG00000156140	ENST00000286657	D	0.87412	-2.25	6.06	6.06	0.98353	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95198	0.8443	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95106	0.8234	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	307	O15072	ATS3_HUMAN	C	307	ENSP00000286657:R307C	ENSP00000286657:R307C	R	-	1	0	ADAMTS3	73407621	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.572000	0.53849	2.882000	0.98803	0.655000	0.94253	CGC		0.363	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			7	317	0	0	0	0.004482	0	7	317				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	34	0	0	0	0.004672	0	3	34				
TEKT4P2	100132288	broad.mit.edu	37	21	9907222	9907222	+	RNA	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr21:9907222T>C	ENST00000416067.1	-	0	1570					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		ATTTGGGGGATTGGGGGGAAG	0.587																																						ENST00000416067.1																			0																																																			0							g.chr21:9907222T>C			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907222T>C								NR_037872.1|NR_038327.1						0	1570	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.587	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		3	18	0	0	0	0.001168	0	3	18				
KIAA2022	340533	broad.mit.edu	37	X	73963361	73963361	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	ENST00000055682.6	-	3	1642	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	344					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGGGCAGGTAGTAAAGAC	0.463																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1030-1032)aCc>aAc		KIAA2022							59.0	52.0	54.0					X																	73963361		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963361G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1031C>A	X.37:g.73963361G>T	ENSP00000055682:p.Thr344Asn					KIAA2022_ENST00000055682.5_Missense_Mutation_p.T344N	p.T344N			Q5QGS0	K2022_HUMAN			3	1682	-			344					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1031C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	0.297	-0.976011	0.02215	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.22743	1.94;1.94	5.93	5.02	0.67125	.	0.204009	0.49916	D	0.000124	T	0.05181	0.0138	N	0.00793	-1.18	0.25872	N	0.983693	B	0.06786	0.001	B	0.06405	0.002	T	0.35798	-0.9774	10	0.02654	T	1	-10.2644	8.658	0.34075	0.0:0.2019:0.5668:0.2312	.	344	Q5QGS0	K2022_HUMAN	N	344	ENSP00000362567:T344N;ENSP00000055682:T344N	ENSP00000055682:T344N	T	-	2	0	KIAA2022	73880086	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.274000	0.58921	2.510000	0.84645	0.600000	0.82982	ACC		0.463	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		17	69	1	0	1.5739e-10	0.004007	2.52145e-10	17	69				
SHROOM3	57619	broad.mit.edu	37	4	77661578	77661578	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	ENST00000296043.6	+	5	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	751					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2251-2253)cCg>cTg		shroom family member 3							13.0	17.0	16.0					4																	77661578		2181	4275	6456	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661578C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2252C>T	4.37:g.77661578C>T	ENSP00000296043:p.Pro751Leu						p.P751L	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3205	+			751					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2252C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	13.66	2.304359	0.40795	.	.	ENSG00000138771	ENST00000296043	T	0.29397	1.57	5.51	-3.64	0.04515	.	1.598650	0.03507	N	0.219053	T	0.21761	0.0524	L	0.34521	1.04	0.09310	N	1	P;B;B	0.35155	0.487;0.154;0.089	B;B;B	0.16289	0.015;0.012;0.007	T	0.40997	-0.9533	10	0.51188	T	0.08	-4.1286	14.0101	0.64490	0.265:0.6611:0.0739:0.0	.	575;751;529	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	751	ENSP00000296043:P751L	ENSP00000296043:P751L	P	+	2	0	SHROOM3	77880602	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.332000	0.07904	-0.211000	0.10124	0.558000	0.71614	CCG		0.692	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	32	0	0	0	0.001168	0	5	32				
TMEM200A	114801	broad.mit.edu	37	6	130761742	130761742	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	ENST00000296978.3	+	3	1046	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_ENST00000392429.1_Missense_Mutation_p.S59P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S59P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	59						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478																																						ENST00000392429.1																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(175-177)Tcc>Ccc		transmembrane protein 200A							126.0	126.0	126.0					6																	130761742		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130761742T>C	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.175T>C	6.37:g.130761742T>C	ENSP00000296978:p.Ser59Pro					TMEM200A_ENST00000545622.1_Missense_Mutation_p.S59P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S59P	p.S59P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	2	2553	+			59					Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.175T>C	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806301	0.70682	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.73217	2.22	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.78071	-0.2347	9	0.87932	D	0	.	15.5161	0.75826	0.0:0.0:0.0:1.0	.	59	Q86VY9	T200A_HUMAN	P	59	.	ENSP00000296978:S59P	S	+	1	0	TMEM200A	130803435	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.095000	0.71439	2.056000	0.61249	0.528000	0.53228	TCC		0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		60	86	0	0	0	0.014410	0	60	86				
TRAPPC8	22878	broad.mit.edu	37	18	29433858	29433858	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:29433858G>C	ENST00000283351.4	-	22	3722	c.3387C>G	c.(3385-3387)agC>agG	p.S1129R	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S1075R	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1129					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTGTTTGCTACTACTTG	0.328																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(3385-3387)agC>agG		trafficking protein particle complex 8							119.0	118.0	118.0					18																	29433858		2202	4299	6501	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29433858G>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3387C>G	18.37:g.29433858G>C	ENSP00000283351:p.Ser1129Arg					TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S1075R	p.S1129R	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			22	3722	-			1129					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3387C>G	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531212	0.27387	.	.	ENSG00000153339	ENST00000283351	T	0.17691	2.26	5.25	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10177	-1.0641	10	0.37606	T	0.19	-8.8204	9.6938	0.40145	0.1604:0.0:0.8396:0.0	.	1129	Q9Y2L5	TPPC8_HUMAN	R	1129	ENSP00000283351:S1129R	ENSP00000283351:S1129R	S	-	3	2	TRAPPC8	27687856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.393000	0.44442	1.213000	0.43380	0.563000	0.77884	AGC		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		9	36	0	0	0	0.006214	0	9	36				
S1PR2	9294	broad.mit.edu	37	19	10334891	10334891	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	ENST00000590320.1	-	2	801	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	231					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(691-693)Ctg>Ttg		sphingosine-1-phosphate receptor 2							78.0	64.0	69.0					19																	10334891		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334891G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.691C>T	19.37:g.10334891G>A							p.L231L	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN			2	801	-			231					Q86UN8	Silent	SNP	ENST00000590320.1	37	c.691C>T	CCDS12229.1																																																																																				0.617	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		14	32	0	0	0	0.002450	0	14	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	61	0	0	0	0.004990	0	15	61				
DANCR	57291	broad.mit.edu	37	4	53579476	53579476	+	RNA	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:53579476T>G	ENST00000411630.2	+	0	234				SNORA26_ENST00000391286.1_RNA|MIR4449_ENST00000578365.1_RNA	NR_024031.1		P0C864	DANCR_HUMAN	differentiation antagonizing non-protein coding RNA																		AAAGTAAGTCTCCATAAAACC	0.418																																						ENST00000411630.2																			0																				131.0	127.0	129.0					4																	53579476		876	1991	2867			0							g.chr4:53579476T>G	BC015222		4q12	2013-07-03	2012-02-09	2012-02-09	ENSG00000226950	ENSG00000226950		"""Long non-coding RNAs"", ""-"""	28964	non-coding RNA	RNA, long non-coding	"""anti-differentiation ncRNA"", ""adipogenesis up-regulated transcript 2"""	614625	"""KIAA0114"", ""small nucleolar RNA host gene 13 (non-protein coding)"""	KIAA0114, SNHG13		7788527, 22302877, 19531736	Standard	NR_024031		Approved	ANCR, AGU2	uc003gzo.2	P0C864	OTTHUMG00000154670		4.37:g.53579476T>G						SNORA26_ENST00000391286.1_RNA		NR_024031.1						0	234	+								A0A024RD90	RNA	SNP	ENST00000411630.2	37																																																																																						0.418	DANCR-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000336530.1	NR_024031		28	2965	0	0	0	0.003080	0	28	2965				
ZNF479	90827	broad.mit.edu	37	7	57187713	57187713	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:57187713C>T	ENST00000331162.4	-	5	1679	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	470					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGCTTTGCCACATTCTTCACA	0.408																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1408-1410)tGt>tAt		zinc finger protein 479							45.0	46.0	45.0					7																	57187713		2076	4224	6300	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187713C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1409G>A	7.37:g.57187713C>T	ENSP00000333776:p.Cys470Tyr						p.C470Y	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1679	-			470						Missense_Mutation	SNP	ENST00000331162.4	37	c.1409G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	11.76	1.734732	0.30774	.	.	ENSG00000185177	ENST00000331162	D	0.85861	-2.04	0.955	-0.377	0.12501	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.89983	0.6873	M	0.91920	3.255	0.31003	N	0.720161	D	0.58268	0.982	P	0.54544	0.755	D	0.85578	0.1238	9	0.87932	D	0	.	6.529	0.22316	0.0:0.6967:0.3032:0.0	.	470	Q96JC4	ZN479_HUMAN	Y	470	ENSP00000333776:C470Y	ENSP00000333776:C470Y	C	-	2	0	ZNF479	57191655	1.000000	0.71417	0.033000	0.17914	0.031000	0.12232	3.667000	0.54547	-0.665000	0.05317	-0.660000	0.03859	TGT		0.408	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		21	77	0	0	0	0.003954	0	21	77				
FAM47B	170062	broad.mit.edu	37	X	34962025	34962025	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	ENST00000329357.5	+	1	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	359								p.D359D(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGAAGACGCACGGGCTC	0.537																																						ENST00000329357.5																			1	Substitution - coding silent(1)	p.D359D(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1075-1077)gaC>gaT		family with sequence similarity 47, member B							44.0	42.0	43.0					X																	34962025		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34962025C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1077C>T	X.37:g.34962025C>T							p.D359D	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1113	+			359					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.1077C>T	CCDS14236.1																																																																																				0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		20	53	0	0	0	0.008871	0	20	53				
CLVS1	157807	broad.mit.edu	37	8	62371030	62371030	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	ENST00000519846.1	+	6	1378	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_ENST00000518592.1_Silent_p.S23S|CLVS1_ENST00000325897.4_Silent_p.S302S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	302					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(904-906)tcC>tcT		clavesin 1							90.0	76.0	81.0					8																	62371030		2203	4300	6503	SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62371030C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.906C>T	8.37:g.62371030C>T						CLVS1_ENST00000518592.1_Silent_p.S23S|CLVS1_ENST00000325897.4_Silent_p.S302S	p.S302S			Q8IUQ0	CLVS1_HUMAN			6	1378	+			302					B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.906C>T	CCDS6176.1																																																																																				0.502	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		20	51	0	0	0	0.002780	0	20	51				
APOA1	335	broad.mit.edu	37	11	116707048	116707048	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	ENST00000236850.4	-	4	645	c.280G>A	c.(280-282)Gag>Aag	p.E94K	APOA1_ENST00000375329.2_Missense_Mutation_p.E72K|APOA1_ENST00000375320.1_Missense_Mutation_p.E94K|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.E94K|APOA1_ENST00000359492.2_Missense_Mutation_p.E94K	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	94	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592																																						ENST00000236850.4																			0				cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9						c.(280-282)Gag>Aag		apolipoprotein A-I							79.0	73.0	75.0					11																	116707048		2201	4292	6493	SO:0001583	missense	335				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding	g.chr11:116707048C>T	X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.280G>A	11.37:g.116707048C>T	ENSP00000236850:p.Glu94Lys					APOA1_ENST00000375329.2_Missense_Mutation_p.E72K|APOA1_ENST00000359492.2_Missense_Mutation_p.E94K|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.E94K|APOA1_ENST00000375320.1_Missense_Mutation_p.E94K	p.E94K	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	4	645	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	94			10 X approximate tandem repeats.		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	c.280G>A	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135570	0.94517	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.06	4.1	0.47936	Apolipoprotein/apolipophorin (1);	0.581778	0.14977	U	0.287474	D	0.84370	0.5457	M	0.84511	2.7	0.28813	N	0.898109	P	0.40332	0.713	P	0.50791	0.65	T	0.78612	-0.2136	10	0.51188	T	0.08	-14.2384	8.8671	0.35294	0.0:0.7237:0.1907:0.0857	.	94	P02647	APOA1_HUMAN	K	94;94;72;94;94	ENSP00000364469:E94K;ENSP00000352471:E94K;ENSP00000364478:E72K;ENSP00000364472:E94K;ENSP00000236850:E94K	ENSP00000236850:E94K	E	-	1	0	APOA1	116212258	0.003000	0.15002	0.943000	0.38184	0.699000	0.40488	0.217000	0.17603	1.086000	0.41228	0.561000	0.74099	GAG		0.592	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		23	81	0	0	0	0.012319	0	23	81				
FCGBP	8857	broad.mit.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T	rs367948062		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	ENST00000221347.6	-	28	12998	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4331						extracellular vesicular exosome (GO:0070062)		p.A4331T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A4331T(1)	upper_aerodigestive_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12991-12993)Gcc>Acc		Fc fragment of IgG binding protein		C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	183.0	192.0	189.0		12991	3.0	0.8	19		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCGBP	NM_003890.2	58	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	4331/5406	40368357	4,13002	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368357C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12991G>A	19.37:g.40368357C>T	ENSP00000221347:p.Ala4331Thr						p.A4331T	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12998	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4331					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12991G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705270	0.15172	6.81E-4	1.16E-4	ENSG00000090920	ENST00000221347	T	0.78481	-1.18	4.08	3.0	0.34707	Uncharacterised domain, cysteine-rich (2);	0.495083	0.18716	U	0.133148	T	0.66237	0.2769	M	0.72624	2.21	0.20074	N	0.999938	P	0.39250	0.665	B	0.26864	0.074	T	0.59679	-0.7409	10	0.36615	T	0.2	.	4.2383	0.10637	0.0:0.6005:0.2058:0.1937	.	4331	Q9Y6R7	FCGBP_HUMAN	T	4331	ENSP00000221347:A4331T	ENSP00000221347:A4331T	A	-	1	0	FCGBP	45060197	0.000000	0.05858	0.755000	0.31263	0.082000	0.17680	-0.081000	0.11321	1.027000	0.39758	0.305000	0.20034	GCC		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		30	260	0	0	0	0.010818	0	30	260				
NLRP12	91662	broad.mit.edu	37	19	54299148	54299148	+	Silent	SNP	C	C	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:54299148C>G	ENST00000324134.6	-	9	3231	c.3063G>C	c.(3061-3063)cgG>cgC	p.R1021R	NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Silent_p.R1022R|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391775.3_Silent_p.R964R|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000351894.4_Silent_p.R909R|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1021					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGGCTCAGCCGCTTGCAAA	0.557																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(3061-3063)cgG>cgC		NLR family, pyrin domain containing 12							88.0	68.0	75.0					19																	54299148		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54299148C>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3063G>C	19.37:g.54299148C>G						NLRP12_ENST00000351894.4_Silent_p.R909R|NLRP12_ENST00000391773.1_Silent_p.R1022R|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391775.3_Silent_p.R964R|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron	p.R1021R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	9	3231	-	Ovarian(34;0.19)		1021					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.3063G>C	CCDS12864.1																																																																																				0.557	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		5	38	0	0	0	0.000602	0	5	38				
KERA	11081	broad.mit.edu	37	12	91449807	91449807	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	ENST00000266719.3	-	2	499	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	84					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(250-252)gaA>gaG		keratocan							118.0	112.0	114.0					12																	91449807		2202	4297	6499	SO:0001819	synonymous_variant	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449807T>C	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.252A>G	12.37:g.91449807T>C							p.E84E	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	499	-			84						Silent	SNP	ENST00000266719.3	37	c.252A>G	CCDS9037.1																																																																																				0.348	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		13	73	0	0	0	0.013537	0	13	73				
RNGTT	8732	broad.mit.edu	37	6	89563379	89563379	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	ENST00000369485.4	-	9	1187	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_ENST00000369475.3_Missense_Mutation_p.R334H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R274H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R334H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	334	GTase.|Interaction with POLR2A. {ECO:0000250}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289																																						ENST00000369485.4																			0				endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21						c.(1000-1002)cGt>cAt		RNA guanylyltransferase and 5'-phosphatase							95.0	94.0	94.0					6																	89563379		2202	4297	6499	SO:0001583	missense	8732				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:89563379C>T	AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1001G>A	6.37:g.89563379C>T	ENSP00000358497:p.Arg334His					RNGTT_ENST00000265607.6_Missense_Mutation_p.R334H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R334H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R274H	p.R334H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.151)	9	1187	-		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)	334			GTase.		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	c.1001G>A	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178865	0.38511	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.29	4.4	0.53042	mRNA capping enzyme (1);	0.210160	0.50627	D	0.000116	T	0.61451	0.2348	N	0.24115	0.695	0.46149	D	0.998894	B;B;B;B	0.14438	0.003;0.01;0.003;0.005	B;B;B;B	0.11329	0.003;0.006;0.002;0.004	T	0.61633	-0.7023	10	0.39692	T	0.17	-12.2932	8.9359	0.35700	0.1495:0.7761:0.0:0.0744	.	274;334;334;334	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	H	334;334;274;305;334	ENSP00000358497:R334H;ENSP00000265607:R334H;ENSP00000442609:R274H;ENSP00000358487:R334H	ENSP00000265607:R334H	R	-	2	0	RNGTT	89620098	0.985000	0.35326	0.758000	0.31321	0.826000	0.46750	2.594000	0.46189	1.334000	0.45468	0.552000	0.68991	CGT		0.289	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			12	90	0	0	0	0.013537	0	12	90				
BCL11A	53335	broad.mit.edu	37	2	60679728	60679728	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	ENST00000359629.5	-	5	1000	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	BCL11A_ENST00000356842.4_Silent_p.S768S|BCL11A_ENST00000538214.1_Missense_Mutation_p.R785Q|BCL11A_ENST00000537768.1_Silent_p.S437S	NM_138559.1	NP_612569.1	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557			T	IGH@	B-CLL																																	ENST00000538214.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(2353-2355)cGa>cAa		B-cell CLL/lymphoma 11A (zinc finger protein)							85.0	91.0	89.0					2																	60679728		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60679728C>T	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000359629.5:c.704G>A	2.37:g.60679728C>T	ENSP00000352648:p.Arg235Gln					BCL11A_ENST00000537768.1_Silent_p.S437S|BCL11A_ENST00000356842.4_Silent_p.S768S|BCL11A_ENST00000359629.5_Missense_Mutation_p.R235Q	p.R785Q			Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2488	-			0					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000359629.5	37	c.2354G>A	CCDS46295.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416731	0.25552	.	.	ENSG00000119866	ENST00000359629;ENST00000538214	T	0.06068	3.35	5.92	3.1	0.35709	.	.	.	.	.	T	0.03477	0.0100	.	.	.	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.04013	0.0;0.001	T	0.43523	-0.9386	8	0.18276	T	0.48	.	3.5732	0.07925	0.0:0.5143:0.1997:0.286	.	785;235	F5H2Y4;Q9H165-3	.;.	Q	235;785	ENSP00000438303:R785Q	ENSP00000352648:R235Q	R	-	2	0	BCL11A	60533232	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.346000	0.19997	0.807000	0.34208	0.650000	0.86243	CGA		0.557	BCL11A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325349.2	NM_022893		34	105	0	0	0	0.003755	0	34	105				
AKR1B10	57016	broad.mit.edu	37	7	134212705	134212705	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	ENST00000359579.4	+	1	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	14					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(40-42)ccC>ccT		aldo-keto reductase family 1, member B10 (aldose reductase)							129.0	116.0	121.0					7																	134212705		2203	4300	6503	SO:0001819	synonymous_variant	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134212705C>T	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.42C>T	7.37:g.134212705C>T						AKR1B10_ENST00000475559.1_3'UTR	p.P14P	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN			1	362	+			14					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Silent	SNP	ENST00000359579.4	37	c.42C>T	CCDS5832.1																																																																																				0.502	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		17	78	0	0	0	0.006122	0	17	78				
USP51	158880	broad.mit.edu	37	X	55514135	55514135	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	ENST00000500968.3	-	2	1320	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	413	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1237-1239)tCg>tTg		ubiquitin specific peptidase 51							78.0	74.0	76.0					X																	55514135		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514135G>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1238C>T	X.37:g.55514135G>A	ENSP00000423333:p.Ser413Leu					USP51_ENST00000586165.1_5'UTR	p.S413L	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	1320	-			413					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1238C>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	9.336	1.061733	0.19987	.	.	ENSG00000247746	ENST00000500968	T	0.32753	1.44	3.57	2.69	0.31865	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.275770	0.34580	N	0.003854	T	0.20007	0.0481	L	0.28458	0.855	0.23101	N	0.9983	B	0.19200	0.034	B	0.18871	0.023	T	0.15492	-1.0435	10	0.36615	T	0.2	.	8.0403	0.30517	0.1289:0.0:0.8711:0.0	.	413	Q70EK9	UBP51_HUMAN	L	413	ENSP00000423333:S413L	ENSP00000423333:S413L	S	-	2	0	USP51	55530860	1.000000	0.71417	0.692000	0.30179	0.991000	0.79684	3.250000	0.51445	0.677000	0.31305	0.508000	0.49915	TCG		0.438	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		14	45	0	0	0	0.002450	0	14	45				
BSN	8927	broad.mit.edu	37	3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	ENST00000296452.4	+	5	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1508					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4522-4524)aCg>aTg		bassoon presynaptic cytomatrix protein							71.0	78.0	76.0					3																	49691512		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691512C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4523C>T	3.37:g.49691512C>T	ENSP00000296452:p.Thr1508Met						p.T1508M	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4637	+			1508					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4523C>T	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534027	0.64972	.	.	ENSG00000164061	ENST00000296452	T	0.23950	1.88	5.25	5.25	0.73442	.	0.243845	0.41500	D	0.000878	T	0.51024	0.1650	M	0.62723	1.935	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.52823	-0.8524	10	0.87932	D	0	.	18.8314	0.92141	0.0:1.0:0.0:0.0	.	1508	Q9UPA5	BSN_HUMAN	M	1508	ENSP00000296452:T1508M	ENSP00000296452:T1508M	T	+	2	0	BSN	49666516	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.487000	0.81328	2.466000	0.83321	0.462000	0.41574	ACG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		11	67	0	0	0	0.008291	0	11	67				
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T	rs369180922		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(361-363)aaC>aaT		collagen, type V, alpha 1		C		0,4406		0,0,2203	91.0	91.0	91.0		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137591840C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T						COL5A1_ENST00000464187.1_3'UTR	p.N121N	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	3	777	+		Myeloproliferative disorder(178;0.0341)	121			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.363C>T	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		27	113	0	0	0	0.007291	0	27	113				
FRAS1	80144	broad.mit.edu	37	4	79400621	79400621	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	ENST00000264895.6	+	56	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2727	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(8191-8193)tTt>tGt		Fraser syndrome 1							67.0	67.0	67.0					4																	79400621		2020	4196	6216	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400621T>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8192T>G	4.37:g.79400621T>G	ENSP00000264895:p.Phe2731Cys						p.F2731C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			56	8632	+			2726			Calx-beta 2.		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8192T>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.51|12.51	1.961106|1.961106	0.34565|0.34565	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.36699|.	1.24|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.116106|0.116106	0.64402|0.64402	D|N	0.000010|0.000010	T|T	0.80276|0.80276	0.4593|0.4593	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.67900|.	0.954|.	T|T	0.82969|0.82969	-0.0193|-0.0193	10|6	0.87932|.	D|.	0|.	.|.	16.3505|16.3505	0.83204|0.83204	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2731|.	E9PHH6|.	.|.	C|L	2731|959	ENSP00000264895:F2731C|.	ENSP00000264895:F2731C|.	F|F	+|+	2|3	0|2	FRAS1|FRAS1	79619645|79619645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.189000|0.189000	0.23516|0.23516	4.644000|4.644000	0.61397|0.61397	2.319000|2.319000	0.78375|0.78375	0.524000|0.524000	0.50904|0.50904	TTT|TTT		0.463	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	39	0	0	0	0.002450	0	15	39				
PRDM5	11107	broad.mit.edu	37	4	121698363	121698363	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	ENST00000264808.3	-	13	1757	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_ENST00000428209.2_Missense_Mutation_p.V475G|PRDM5_ENST00000515109.1_Missense_Mutation_p.V475G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	506					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1516-1518)gTt>gGt		PR domain containing 5							151.0	138.0	142.0					4																	121698363		2203	4300	6503	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121698363A>C	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1517T>G	4.37:g.121698363A>C	ENSP00000264808:p.Val506Gly					PRDM5_ENST00000428209.2_Missense_Mutation_p.V475G|PRDM5_ENST00000515109.1_Missense_Mutation_p.V475G	p.V506G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			13	1757	-			506					Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.1517T>G	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701503	0.68501	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.29397	2.21;1.57;2.21	5.36	5.36	0.76844	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	0.38585	0.1046	N	0.16743	0.435	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.998	T	0.21075	-1.0256	10	0.25751	T	0.34	-16.1714	15.365	0.74513	1.0:0.0:0.0:0.0	.	475;475;506	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	G	506;475;475	ENSP00000264808:V506G;ENSP00000422309:V475G;ENSP00000404832:V475G	ENSP00000264808:V506G	V	-	2	0	PRDM5	121917813	1.000000	0.71417	0.311000	0.25182	0.840000	0.47671	8.990000	0.93510	2.032000	0.59987	0.533000	0.62120	GTT		0.383	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			32	129	0	0	0	0.003271	0	32	129				
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000394299.2_Missense_Mutation_p.R312I|GPC3_ENST00000543339.1_Missense_Mutation_p.R258I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(934-936)aGa>aTa		glypican 3							563.0	362.0	430.0					X																	132887606		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887606C>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.935G>T	X.37:g.132887606C>A	ENSP00000359854:p.Arg312Ile					GPC3_ENST00000394299.2_Missense_Mutation_p.R312I|GPC3_ENST00000543339.1_Missense_Mutation_p.R258I	p.R312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	1380	-	Acute lymphoblastic leukemia(192;0.000127)		312					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.935G>T	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.698680|2.698680	0.48307|0.48307	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.053546	.|0.85682	.|D	.|0.000000	.|T	.|0.46833	.|0.1413	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;P;P	.|0.39282	.|0.666;0.615;0.489;0.666	.|B;B;P;B	.|0.46629	.|0.149;0.388;0.522;0.149	.|T	.|0.50056	.|-0.8872	.|10	.|0.66056	.|D	.|0.02	.|.	17.6993|17.6993	0.88290|0.88290	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|296;258;312;312	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	X|I	42|312;312;258	.|ENSP00000359854:R312I;ENSP00000377836:R312I;ENSP00000444222:R258I	.|ENSP00000359854:R312I	E|R	-|-	1|2	0|0	GPC3|GPC3	132715272|132715272	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.426000|7.426000	0.80270|0.80270	2.397000|2.397000	0.81536|0.81536	0.594000|0.594000	0.82650|0.82650	GAA|AGA		0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		6	144	1	0	8.12818e-05	0.001984	0.00012511	6	144				
CD244	51744	broad.mit.edu	37	1	160811431	160811431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	ENST00000368033.3	-	2	404	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E108*|CD244_ENST00000368034.4_Nonsense_Mutation_p.E108*|CD244_ENST00000322302.7_Nonsense_Mutation_p.E108*|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	108	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453																																						ENST00000368034.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18						c.(322-324)Gag>Tag		CD244 molecule, natural killer cell receptor 2B4							64.0	64.0	64.0					1																	160811431		2203	4300	6503	SO:0001587	stop_gained	51744				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	g.chr1:160811431C>A	AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.322G>T	1.37:g.160811431C>A	ENSP00000357012:p.Glu108*					CD244_ENST00000322302.7_Nonsense_Mutation_p.E108*|CD244_ENST00000368032.2_Nonsense_Mutation_p.E108*|CD244_ENST00000368033.3_Nonsense_Mutation_p.E108*	p.E108*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	499	-	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		108			Ig-like 1.		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Nonsense_Mutation	SNP	ENST00000368033.3	37	c.322G>T	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047740	0.55110	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	.	.	.	4.36	4.36	0.52297	.	0.432742	0.22529	N	0.058861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.1287	12.6039	0.56513	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000313619:E108X	E	-	1	0	CD244	159078055	0.057000	0.20700	0.027000	0.17364	0.028000	0.11728	1.099000	0.31013	2.431000	0.82371	0.655000	0.94253	GAG		0.453	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		22	90	1	0	4.26978e-12	0.003330	6.91088e-12	22	90				
RS1	6247	broad.mit.edu	37	X	18660177	18660177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	ENST00000379984.3	-	6	662	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	208	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657																																						ENST00000379984.3																			0				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15						c.(622-624)Gtc>Atc		retinoschisin 1							60.0	55.0	57.0					X																	18660177		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660177C>T	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.622G>A	X.37:g.18660177C>T	ENSP00000369320:p.Val208Ile					CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	p.V208I	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN			6	662	-	Hepatocellular(33;0.183)		208			F5/8 type C.		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.622G>A	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122812	0.77436	.	.	ENSG00000102104	ENST00000379984	D	0.98862	-5.19	5.63	5.63	0.86233	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.104953	0.64402	D	0.000003	D	0.97337	0.9129	L	0.33668	1.02	0.40901	D	0.984153	D	0.58620	0.983	P	0.48189	0.57	D	0.97450	1.0027	10	0.34782	T	0.22	.	18.6736	0.91521	0.0:1.0:0.0:0.0	.	208	O15537	XLRS1_HUMAN	I	208	ENSP00000369320:V208I	ENSP00000369320:V208I	V	-	1	0	RS1	18570098	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	3.786000	0.55431	2.353000	0.79882	0.594000	0.82650	GTC		0.657	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			26	63	0	0	0	0.004656	0	26	63				
EDEM3	80267	broad.mit.edu	37	1	184695449	184695449	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	ENST00000318130.8	-	7	953	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_ENST00000367512.3_Silent_p.A186A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	229					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(685-687)gcA>gcG		ER degradation enhancer, mannosidase alpha-like 3							103.0	101.0	102.0					1																	184695449		2203	4300	6503	SO:0001819	synonymous_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184695449T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.687A>G	1.37:g.184695449T>C						EDEM3_ENST00000367512.3_Silent_p.A186A	p.A229A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			7	953	-			229					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	c.687A>G	CCDS1363.2																																																																																				0.388	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		11	57	0	0	0	0.003163	0	11	57				
LINC00969	440993	broad.mit.edu	37	3	195400788	195400788	+	lincRNA	SNP	G	G	A	rs186581396		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400788G>A	ENST00000445430.1	+	0	1384									long intergenic non-protein coding RNA 969																		CCGCCTCGGGGCAAACTCGCT	0.602																																						ENST00000445430.1																			0																																																			0							g.chr3:195400788G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400788G>A														0	1384	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.602	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	26	0	0	0	0.001168	0	3	26				
SP100	6672	broad.mit.edu	37	2	231367785	231367785	+	Silent	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	ENST00000264052.5	+	20	2080	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_ENST00000340126.4_Silent_p.R575R|SP100_ENST00000409112.1_Silent_p.R575R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	575					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(1723-1725)agA>agG		SP100 nuclear antigen							78.0	83.0	82.0					2																	231367785		2203	4300	6503	SO:0001819	synonymous_variant	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231367785A>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1725A>G	2.37:g.231367785A>G						SP100_ENST00000409112.1_Silent_p.R575R|SP100_ENST00000340126.4_Silent_p.R575R	p.R575R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	20	2080	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	575					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	c.1725A>G	CCDS2477.1																																																																																				0.289	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		18	82	0	0	0	0.008871	0	18	82				
RYR2	6262	broad.mit.edu	37	1	237804239	237804239	+	Missense_Mutation	SNP	C	C	G	rs376057173		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	ENST00000366574.2	+	47	7475	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2384K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2370K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1). {ECO:0000269|PubMed:11159936, ECO:0000269|PubMed:12106942}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATGGGGAACGCGATCATGA	0.443																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(7156-7158)aaC>aaG		ryanodine receptor 2 (cardiac)							192.0	185.0	187.0					1																	237804239		2093	4243	6336	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237804239C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7158C>G	1.37:g.237804239C>G	ENSP00000355533:p.Asn2386Lys					RYR2_ENST00000542537.1_Missense_Mutation_p.N2370K|RYR2_ENST00000360064.6_Missense_Mutation_p.N2384K	p.N2386K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		47	7475	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2386		N -> I (in ARVD2 and CPVT1).	4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7158C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325116	0.60634	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97752	-4.52;-4.52;-4.52	5.6	-0.99	0.10238	.	0.072903	0.52532	D	0.000063	D	0.95357	0.8493	M	0.68952	2.095	0.80722	D	1	P	0.46621	0.881	B	0.40825	0.341	D	0.90883	0.4755	10	0.32370	T	0.25	-26.242	11.1538	0.48476	0.0:0.21:0.0:0.79	.	2386	Q92736	RYR2_HUMAN	K	2386;2384;2370	ENSP00000355533:N2386K;ENSP00000353174:N2384K;ENSP00000443798:N2370K	ENSP00000353174:N2384K	N	+	3	2	RYR2	235870862	0.528000	0.26314	0.988000	0.46212	0.989000	0.77384	-0.293000	0.08320	-0.328000	0.08539	-0.229000	0.12294	AAC		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	39	0	0	0	0.003080	0	6	39				
DOCK5	80005	broad.mit.edu	37	8	25154057	25154057	+	Missense_Mutation	SNP	G	G	C	rs374015497		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	ENST00000276440.7	+	7	543	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_ENST00000481100.1_Missense_Mutation_p.D167H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	167					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(499-501)Gat>Cat		dedicator of cytokinesis 5		G	HIS/ASP	0,4406		0,0,2203	120.0	98.0	105.0		499	5.7	1.0	8		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK5	NM_024940.6	81	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	167/1871	25154057	1,13005	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25154057G>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.499G>C	8.37:g.25154057G>C	ENSP00000276440:p.Asp167His					DOCK5_ENST00000481100.1_Missense_Mutation_p.D167H	p.D167H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	7	543	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	167					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.499G>C	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243106	0.79912	0.0	1.16E-4	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.77619	-0.2520	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	167	Q9H7D0	DOCK5_HUMAN	H	167	ENSP00000429737:D167H;ENSP00000276440:D167H	ENSP00000276440:D167H	D	+	1	0	DOCK5	25209974	1.000000	0.71417	0.990000	0.47175	0.376000	0.30014	9.156000	0.94705	2.941000	0.99782	0.655000	0.94253	GAT		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		4	15	0	0	0	0.009096	0	4	15				
DNAJC7	7266	broad.mit.edu	37	17	40140910	40140910	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	ENST00000457167.4	-	8	994	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_ENST00000316603.7_Missense_Mutation_p.A197V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.A197V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	253					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(757-759)gCc>gTc		DnaJ (Hsp40) homolog, subfamily C, member 7							107.0	99.0	102.0					17																	40140910		1872	4117	5989	SO:0001583	missense	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40140910G>A	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.758C>T	17.37:g.40140910G>A	ENSP00000406463:p.Ala253Val					DNAJC7_ENST00000426588.3_Missense_Mutation_p.A197V|DNAJC7_ENST00000316603.7_Missense_Mutation_p.A197V	p.A253V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			8	994	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	253					Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	c.758C>T	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096682	0.76870	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.75821	1.34;-0.97;-0.97	5.41	5.41	0.78517	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	1.268200	0.05002	N	0.469255	T	0.76744	0.4030	L	0.31804	0.96	0.80722	D	1	B;P;P	0.51240	0.226;0.943;0.768	B;P;B	0.53722	0.177;0.733;0.263	T	0.65635	-0.6120	10	0.06625	T	0.88	0.0015	19.1913	0.93667	0.0:0.0:1.0:0.0	.	242;197;253	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	V	253;197;197	ENSP00000406463:A253V;ENSP00000394327:A197V;ENSP00000313311:A197V	ENSP00000313311:A197V	A	-	2	0	DNAJC7	37394436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GCC		0.423	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			51	84	0	0	0	0.014410	0	51	84				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	101	0	0	0	0.000602	0	4	101				
SERPINB11	89778	broad.mit.edu	37	18	61387343	61387343	+	RNA	SNP	A	A	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	ENST00000382749.5	+	0	817				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_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)				TGGCAAAATAAATTTCAAGTA	0.348																																					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)							62.0	64.0	63.0					18																	61387343		1816	4086	5902			89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61387343A>T			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.61387343A>T						SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	634	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37			.	.	.	.	.	.	.	.	.	.	A	19.17	3.776656	0.70107	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	D;D	0.85339	-1.97;-1.97	5.62	4.47	0.54385	Serpin domain (3);	.	.	.	.	D	0.90762	0.7100	M	0.83774	2.66	0.09310	N	1	D;D;D	0.67145	0.98;0.996;0.966	P;D;P	0.65010	0.748;0.931;0.837	T	0.82573	-0.0390	9	0.66056	D	0.02	.	7.1688	0.25706	0.7605:0.1604:0.079:0.0	.	16;191;191	F5GWT8;F5GYW9;Q96P15	.;.;SPB11_HUMAN	I	191;16	ENSP00000441497:K191I;ENSP00000441708:K16I	ENSP00000421854:K191I	K	+	2	0	SERPINB11	59538323	0.000000	0.05858	0.990000	0.47175	0.933000	0.57130	0.446000	0.21694	2.263000	0.75096	0.533000	0.62120	AAA		0.348	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		8	33	0	0	0	0.004482	0	8	33				
AJAP1	55966	broad.mit.edu	37	1	4832380	4832380	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	ENST00000378191.4	+	4	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_ENST00000378190.3_Missense_Mutation_p.R320W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	320	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(958-960)Cgg>Tgg		adherens junctions associated protein 1							84.0	71.0	75.0					1																	4832380		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832380C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.958C>T	1.37:g.4832380C>T	ENSP00000367433:p.Arg320Trp					AJAP1_ENST00000378190.3_Missense_Mutation_p.R320W	p.R320W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1339	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	320			Targeting signals.		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.958C>T	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436714	0.83885	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.57107	0.42;0.42	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	N	0.24115	0.695	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	T	0.62623	-0.6815	10	0.87932	D	0	-27.951	12.255	0.54619	0.1701:0.8299:0.0:0.0	.	320	Q9UKB5	AJAP1_HUMAN	W	320	ENSP00000367432:R320W;ENSP00000367433:R320W	ENSP00000367432:R320W	R	+	1	2	AJAP1	4732240	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.934000	0.40163	2.380000	0.81148	0.561000	0.74099	CGG		0.607	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		10	60	0	0	0	0.008291	0	10	60				
BSN	8927	broad.mit.edu	37	3	49694614	49694614	+	Missense_Mutation	SNP	C	C	T	rs187902453		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	ENST00000296452.4	+	5	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2542					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20244	0.0		0.001	False		,,,				2504	0.0					ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(7624-7626)aCg>aTg		bassoon presynaptic cytomatrix protein		C	MET/THR	0,4406		0,0,2203	43.0	42.0	42.0		7625	5.6	0.9	3		42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BSN	NM_003458.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2542/3927	49694614	1,13005	2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694614C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7625C>T	3.37:g.49694614C>T	ENSP00000296452:p.Thr2542Met						p.T2542M	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7739	+			2542					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7625C>T	CCDS2800.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.942	0.543645	0.13250	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.58	5.58	0.84498	.	0.114424	0.64402	D	0.000019	T	0.37293	0.0998	L	0.53249	1.67	0.37777	D	0.926899	D	0.71674	0.998	P	0.59487	0.858	T	0.25363	-1.0134	10	0.72032	D	0.01	-16.1283	13.8113	0.63266	0.0:0.9249:0.0:0.0751	.	2542	Q9UPA5	BSN_HUMAN	M	2542	ENSP00000296452:T2542M	ENSP00000296452:T2542M	T	+	2	0	BSN	49669618	0.036000	0.19791	0.854000	0.33618	0.828000	0.46876	0.369000	0.20416	2.640000	0.89533	0.561000	0.74099	ACG		0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		14	40	0	0	0	0.001855	0	14	40				
MYO16	23026	broad.mit.edu	37	13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	ENST00000357550.2	+	1	142	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MYO16_ENST00000251041.5_Missense_Mutation_p.R34H|MYO16_ENST00000356711.2_Missense_Mutation_p.R34H	NM_001198950.1	NP_001185879.1			myosin XVI									p.R34H(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527																																						ENST00000356711.2																			2	Substitution - Missense(2)	p.R34H(2)	upper_aerodigestive_tract(1)|large_intestine(1)	NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(100-102)cGc>cAc		myosin XVI							86.0	76.0	79.0					13																	109318372		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109318372G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.101G>A	13.37:g.109318372G>A	ENSP00000350160:p.Arg34His					MYO16_ENST00000357550.2_Missense_Mutation_p.R34H|MYO16_ENST00000251041.5_Missense_Mutation_p.R34H	p.R34H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		2	227	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		34						Missense_Mutation	SNP	ENST00000357550.2	37	c.101G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796598	0.70567	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.49432	0.78;0.78;0.78	5.37	5.37	0.77165	.	0.000000	0.30979	U	0.008491	T	0.57051	0.2027	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.982;0.997	T	0.53933	-0.8368	9	.	.	.	.	18.0975	0.89494	0.0:0.0:1.0:0.0	.	34;34	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	34	ENSP00000349145:R34H;ENSP00000350160:R34H;ENSP00000251041:R34H	.	R	+	2	0	MYO16	108116373	1.000000	0.71417	0.030000	0.17652	0.363000	0.29612	9.114000	0.94329	2.506000	0.84524	0.650000	0.86243	CGC		0.527	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		14	42	0	0	0	0.001855	0	14	42				
CACNA2D3	55799	broad.mit.edu	37	3	54596855	54596855	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	ENST00000474759.1	+	6	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.W97C|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.W191C|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.W191C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	191						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGGTTTATTGGTCTGAATCTC	0.403																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.(571-573)tgG>tgT		calcium channel, voltage-dependent, alpha 2/delta subunit 3							88.0	81.0	83.0					3																	54596855		1839	4088	5927	SO:0001583	missense	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:54596855G>T	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.573G>T	3.37:g.54596855G>T	ENSP00000419101:p.Trp191Cys					CACNA2D3_ENST00000288197.5_Missense_Mutation_p.W191C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.W97C|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.W191C	p.W191C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	6	621	+			191					B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	c.573G>T	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516110	0.85495	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	T;T;T;T;T	0.57273	2.54;2.54;2.54;2.57;0.41	5.82	5.82	0.92795	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.80464	-0.1371	10	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	191	Q8IZS8	CA2D3_HUMAN	C	191;191;191;97;97;97;96	ENSP00000389506:W191C;ENSP00000419101:W191C;ENSP00000288197:W191C;ENSP00000417279:W97C;ENSP00000418028:W97C	ENSP00000288197:W191C	W	+	3	0	CACNA2D3	54571895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.614000	0.98353	2.767000	0.95098	0.655000	0.94253	TGG		0.403	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			10	38	1	0	1.76689e-08	0.006214	2.74656e-08	10	38				
GYG2	8908	broad.mit.edu	37	X	2799186	2799186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	ENST00000381163.3	+	12	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_ENST00000338623.5_Missense_Mutation_p.R444C|GYG2_ENST00000542787.1_Missense_Mutation_p.R409C|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.R449C	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	480					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGAAGGCCGTATCGACTA	0.572																																						ENST00000381163.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1438-1440)Cgt>Tgt		glycogenin 2							161.0	97.0	119.0					X																	2799186		2203	4297	6500	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2799186C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1438C>T	X.37:g.2799186C>T	ENSP00000370555:p.Arg480Cys					GYG2_ENST00000542787.1_Missense_Mutation_p.R409C|GYG2_ENST00000338623.5_Missense_Mutation_p.R444C|GYG2_ENST00000398806.3_Missense_Mutation_p.R449C|GYG2_ENST00000381161.1_3'UTR	p.R480C	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN			12	1720	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	480					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.1438C>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709985	0.30322	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	T;T;T;T	0.46063	0.88;1.2;1.19;1.21	3.94	3.07	0.35406	.	0.754711	0.12072	N	0.502200	T	0.49338	0.1551	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	P;D;P;D;D;D	0.74023	0.901;0.975;0.832;0.962;0.982;0.94	T	0.32534	-0.9903	10	0.87932	D	0	.	8.4852	0.33067	0.0:0.8832:0.0:0.1168	.	444;409;440;449;449;480	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;.;GLYG2_HUMAN	C	449;480;444;409	ENSP00000381786:R449C;ENSP00000370555:R480C;ENSP00000341273:R444C;ENSP00000446092:R409C	ENSP00000341273:R444C	R	+	1	0	GYG2	2809186	0.010000	0.17322	0.001000	0.08648	0.071000	0.16799	3.167000	0.50793	0.548000	0.28955	0.540000	0.68198	CGT		0.572	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		7	29	0	0	0	0.003080	0	7	29				
GPR137B	7107	broad.mit.edu	37	1	236341829	236341829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	ENST00000366592.3	+	3	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478																																						ENST00000366592.3																			0				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(580-582)Cga>Tga		G protein-coupled receptor 137B							254.0	220.0	232.0					1																	236341829		2203	4300	6503	SO:0001587	stop_gained	7107					integral to plasma membrane|membrane fraction		g.chr1:236341829C>T	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.580C>T	1.37:g.236341829C>T	ENSP00000355551:p.Arg194*					GPR137B_ENST00000366591.4_Intron	p.R194*	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	671	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	194					Q53EK7|Q5TAE6|Q6FHI3	Nonsense_Mutation	SNP	ENST00000366592.3	37	c.580C>T	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911997	0.92178	.	.	ENSG00000077585	ENST00000366592;ENST00000391852	.	.	.	5.7	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9123	13.1936	0.59726	0.4241:0.5759:0.0:0.0	.	.	.	.	X	194;193	.	ENSP00000355551:R194X	R	+	1	2	GPR137B	234408452	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	1.853000	0.39358	1.344000	0.45657	0.561000	0.74099	CGA		0.478	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		58	164	0	0	0	0.014410	0	58	164				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	99	0	0	0	0.009096	0	4	99				
ANK1	286	broad.mit.edu	37	8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	ENST00000347528.4	-	36	4453	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	ANK1_ENST00000396942.1_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1457H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522																																						ENST00000396942.1																			1	Substitution - Missense(1)	p.R1457H(1)	ovary(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4369-4371)cGt>cAt		ankyrin 1, erythrocytic		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	154.0	110.0	125.0		4370,4493,4370,4370,4370	5.5	0.3	8	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	29,29,29,29,29	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1457/1881,1498/1898,1457/1857,1457/1882,1457/1720	41543690	4,13002	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41543690C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4370G>A	8.37:g.41543690C>T	ENSP00000339620:p.Arg1457His					ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H	p.R1457H			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		36	4453	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1457			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.4370G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443909	0.83993	4.54E-4	2.33E-4	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.49	5.49	0.81192	Death (3);DEATH-like (2);	0.059384	0.64402	D	0.000004	D	0.93314	0.7869	M	0.80847	2.515	0.80722	D	1	P;D;D;P;P;D	0.63880	0.917;0.985;0.958;0.933;0.68;0.993	P;P;P;P;P;D	0.63597	0.723;0.849;0.849;0.552;0.723;0.916	D	0.93865	0.7157	10	0.72032	D	0.01	.	18.3408	0.90304	0.0:1.0:0.0:0.0	.	1498;1457;1457;1457;1457;773	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	1457;1457;1457;1457;1457;1457;1498;1457	ENSP00000339620:R1457H;ENSP00000289734:R1457H;ENSP00000369082:R1457H;ENSP00000380149:R1457H;ENSP00000380147:R1457H;ENSP00000309131:R1457H;ENSP00000265709:R1498H	ENSP00000265709:R1498H	R	-	2	0	ANK1	41662847	1.000000	0.71417	0.303000	0.25071	0.461000	0.32589	4.440000	0.59975	2.573000	0.86826	0.655000	0.94253	CGT		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		25	72	0	0	0	0.006320	0	25	72				
SELE	6401	broad.mit.edu	37	1	169697059	169697059	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	ENST00000333360.7	-	9	1428	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.C367Y|SELE_ENST00000367776.1_Missense_Mutation_p.C367Y|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.C305Y|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.C305Y|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	430	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GACAGCATCGCATCTCACAGC	0.498																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1288-1290)tGc>tAc		selectin E							75.0	72.0	73.0					1																	169697059		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169697059C>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1289G>A	1.37:g.169697059C>T	ENSP00000331736:p.Cys430Tyr					C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C367Y|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.C305Y|SELE_ENST00000367782.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.C367Y|SELE_ENST00000367780.4_Missense_Mutation_p.C305Y	p.C430Y	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			9	1428	-	all_hematologic(923;0.208)		430			Sushi 5.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1289G>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233449	0.79688	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.46442	D	0.000281	D	0.99910	0.9957	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96374	0.9276	10	0.87932	D	0	-17.3043	18.8428	0.92190	0.0:1.0:0.0:0.0	.	430	P16581	LYAM2_HUMAN	Y	367;305;430;305;367	ENSP00000356755:C367Y;ENSP00000356754:C305Y;ENSP00000331736:C430Y;ENSP00000356749:C305Y;ENSP00000356750:C367Y	ENSP00000331736:C430Y	C	-	2	0	SELE	167963683	1.000000	0.71417	0.647000	0.29507	0.262000	0.26303	6.623000	0.74238	2.788000	0.95919	0.650000	0.86243	TGC		0.498	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		29	121	0	0	0	0.010818	0	29	121				
RND3	390	broad.mit.edu	37	2	151326607	151326607	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	ENST00000375734.2	-	5	878	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.S81L|RND3_ENST00000263895.4_Missense_Mutation_p.S210L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	210					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458																																						ENST00000375734.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13						c.(628-630)tCa>tTa		Rho family GTPase 3							183.0	169.0	174.0					2																	151326607		2203	4300	6503	SO:0001583	missense	390				actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity	g.chr2:151326607G>A		CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.629C>T	2.37:g.151326607G>A	ENSP00000364886:p.Ser210Leu					RND3_ENST00000263895.4_Missense_Mutation_p.S210L|RND3_ENST00000409557.1_Missense_Mutation_p.S81L	p.S210L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.106)	5	878	-			210					D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	c.629C>T	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315582	0.60524	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.68181	-0.31;-0.31;2.4	5.81	5.81	0.92471	.	0.425883	0.24419	N	0.038690	T	0.66790	0.2825	L	0.58101	1.795	0.58432	D	0.999992	B;B;B	0.30146	0.001;0.27;0.27	B;B;B	0.30179	0.009;0.112;0.112	T	0.65401	-0.6177	10	0.52906	T	0.07	-4.1957	19.0713	0.93138	0.0:0.0:1.0:0.0	.	73;209;210	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	L	210;210;81	ENSP00000364886:S210L;ENSP00000263895:S210L;ENSP00000386576:S81L	ENSP00000263895:S210L	S	-	2	0	RND3	151034853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.623000	0.74238	2.751000	0.94390	0.650000	0.86243	TCA		0.458	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		31	108	0	0	0	0.010818	0	31	108				
SEP15	9403	broad.mit.edu	37	1	87369113	87369113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	ENST00000331835.5	-	2	356	c.94G>T	c.(94-96)Gag>Tag	p.E32*	SEP15_ENST00000401030.3_Nonsense_Mutation_p.E32*|SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000370554.1_Nonsense_Mutation_p.E32*	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		32					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GATGAAAACTCTGCCCCAAAA	0.418																																						ENST00000331835.5																			0											c.(94-96)Gag>Tag									32.0	30.0	31.0					1																	87369113		1852	4095	5947	SO:0001587	stop_gained	0							g.chr1:87369113C>A																												ENST00000331835.5:c.94G>T	1.37:g.87369113C>A	ENSP00000328729:p.Glu32*					RP4-604K5.1_ENST00000370554.1_Nonsense_Mutation_p.E32*|RP4-604K5.1_ENST00000469566.1_5'UTR|RP4-604K5.1_ENST00000401030.3_Nonsense_Mutation_p.E32*	p.E32*	NM_004261.3	NP_004252.2					2	356	-								Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Nonsense_Mutation	SNP	ENST00000331835.5	37	c.94G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.658045	0.97739	.	.	ENSG00000183291	ENST00000331835;ENST00000370554;ENST00000401030	.	.	.	5.79	5.79	0.91817	.	0.105120	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.6434	16.5092	0.84280	0.0:0.8608:0.1392:0.0	.	.	.	.	X	32	.	ENSP00000328729:E32X	E	-	1	0	RP4-604K5.1	87141701	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.805000	0.55575	2.753000	0.94483	0.555000	0.69702	GAG		0.418	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			11	19	1	0	2.68362e-12	0.013537	4.38884e-12	11	19				
SEL1L3	23231	broad.mit.edu	37	4	25849135	25849135	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	ENST00000399878.3	-	2	636	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SEL1L3_ENST00000502949.1_Missense_Mutation_p.I19V|SEL1L3_ENST00000264868.5_Missense_Mutation_p.I137V|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	172						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.(514-516)Ata>Gta		sel-1 suppressor of lin-12-like 3 (C. elegans)							75.0	69.0	71.0					4																	25849135		1908	4135	6043	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25849135T>C	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.514A>G	4.37:g.25849135T>C	ENSP00000382767:p.Ile172Val					SEL1L3_ENST00000264868.5_Missense_Mutation_p.I137V|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_Missense_Mutation_p.I19V	p.I172V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			2	636	-			172					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.514A>G	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	8.171	0.791723	0.16258	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000510880;ENST00000513691;ENST00000514872	T;T;T	0.15834	2.39;2.39;2.39	5.4	-1.24	0.09435	.	0.518363	0.23146	N	0.051401	T	0.09512	0.0234	L	0.38531	1.155	0.27365	N	0.955841	B	0.09022	0.002	B	0.06405	0.002	T	0.34551	-0.9824	10	0.16420	T	0.52	-2.3651	5.3377	0.15967	0.1286:0.3512:0.0:0.5201	.	172	Q68CR1	SE1L3_HUMAN	V	172;137;19;19;19;19	ENSP00000382767:I172V;ENSP00000264868:I137V;ENSP00000425438:I19V	ENSP00000264868:I137V	I	-	1	0	SEL1L3	25458233	1.000000	0.71417	0.214000	0.23707	0.951000	0.60555	0.424000	0.21330	-0.437000	0.07243	0.454000	0.30748	ATA		0.408	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		9	65	0	0	0	0.004482	0	9	65				
TRIT1	54802	broad.mit.edu	37	1	40318536	40318536	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:40318536C>A	ENST00000316891.5	-	4	441	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	TRIT1_ENST00000372818.1_Missense_Mutation_p.G143C|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.G63C|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	143					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCAGTGCCCATCTCCTGG	0.448																																						ENST00000316891.5																			0				breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15						c.(427-429)Ggc>Tgc		tRNA isopentenyltransferase 1							190.0	179.0	183.0					1																	40318536		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40318536C>A	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.427G>T	1.37:g.40318536C>A	ENSP00000321810:p.Gly143Cys					TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.G143C|TRIT1_ENST00000441669.2_Missense_Mutation_p.G63C|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000491865.1_Intron	p.G143C	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		4	441	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	143					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.427G>T	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308462	0.40895	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818	T;T	0.43688	0.94;0.94	3.99	3.07	0.35406	.	0.984679	0.08348	N	0.959733	T	0.52613	0.1745	M	0.64997	1.995	0.25480	N	0.987743	P;B;D	0.69078	0.941;0.002;0.997	P;B;P	0.58660	0.762;0.012;0.843	T	0.38023	-0.9680	10	0.56958	D	0.05	-1.2208	4.2795	0.10825	0.0:0.6028:0.1914:0.2058	.	143;143;63	Q9H3H1;Q9H3H1-4;Q9H3H1-5	MOD5_HUMAN;.;.	C	143;63;57;143;143	ENSP00000321810:G143C;ENSP00000361905:G143C	ENSP00000046894:G143C	G	-	1	0	TRIT1	40091123	0.000000	0.05858	0.652000	0.29579	0.665000	0.39181	0.142000	0.16096	1.243000	0.43853	0.467000	0.42956	GGC		0.448	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2	NM_017646		5	215	1	0	0.00116845	0.001168	0.0017639	5	215				
OR9G1	390174	broad.mit.edu	37	11	56468417	56468417	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	ENST00000312153.1	+	1	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	185			E -> K (in dbSNP:rs11228735).			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)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCCTTGGTGGAGCTGGCCTGT	0.463																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(553-555)gAg>gGg		olfactory receptor, family 9, subfamily G, member 1							117.0	119.0	118.0					11																	56468417		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468417A>G	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.554A>G	11.37:g.56468417A>G	ENSP00000309012:p.Glu185Gly						p.E185G	NM_001005213.1	NP_001005213.1					1	554	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.554A>G	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	A	9.397	1.077135	0.20227	.	.	ENSG00000174914	ENST00000312153	T	0.00174	8.62	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.344874	0.25037	N	0.033639	T	0.00144	0.0004	L	0.41573	1.285	0.09310	N	1	B	0.12013	0.005	B	0.22601	0.04	T	0.39623	-0.9605	10	0.52906	T	0.07	-6.0418	5.1574	0.15042	0.751:0.0:0.0879:0.1611	.	185	Q8NH87	OR9G1_HUMAN	G	185	ENSP00000309012:E185G	ENSP00000309012:E185G	E	+	2	0	OR9G1	56224993	0.000000	0.05858	0.985000	0.45067	0.605000	0.37080	1.007000	0.29860	2.006000	0.58801	0.467000	0.42956	GAG		0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		30	112	0	0	0	0.007291	0	30	112				
PRPS2	5634	broad.mit.edu	37	X	12838861	12838861	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	ENST00000380668.5	+	6	931	c.803C>T	c.(802-804)gCt>gTt	p.A268V	PRPS2_ENST00000398491.2_Missense_Mutation_p.A271V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	268					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483																																						ENST00000380668.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						c.(802-804)gCt>gTt		phosphoribosyl pyrophosphate synthetase 2							109.0	89.0	96.0					X																	12838861		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12838861C>T	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.803C>T	X.37:g.12838861C>T	ENSP00000370043:p.Ala268Val					PRPS2_ENST00000398491.2_Missense_Mutation_p.A271V	p.A268V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN			6	931	+			268					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.803C>T	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726098	0.48833	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000461630;ENST00000460220	T;T;T	0.72167	-0.63;-0.63;-0.63	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.88105	2.93	0.80722	D	1	P;P	0.51449	0.797;0.945	B;P	0.48921	0.391;0.595	D	0.86073	0.1539	10	0.66056	D	0.02	-13.406	17.5895	0.87992	0.0:1.0:0.0:0.0	.	268;271	P11908;P11908-2	PRPS2_HUMAN;.	V	268;271;123;100	ENSP00000370043:A268V;ENSP00000381504:A271V;ENSP00000418911:A123V	ENSP00000370043:A268V	A	+	2	0	PRPS2	12748782	1.000000	0.71417	0.948000	0.38648	0.977000	0.68977	7.332000	0.79203	2.169000	0.68431	0.468000	0.43344	GCT		0.483	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		19	70	0	0	0	0.010504	0	19	70				
RXRG	6258	broad.mit.edu	37	1	165398112	165398112	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	ENST00000359842.5	-	2	443	c.141T>G	c.(139-141)gaT>gaG	p.D47E		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	47	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)	TCACTGGGGTATCTGTGTAGC	0.607																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(139-141)gaT>gaG		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						64.0	59.0	61.0					1																	165398112		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.chr1:165398112A>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.141T>G	1.37:g.165398112A>C	ENSP00000352900:p.Asp47Glu						p.D47E	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			2	443	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		47			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.141T>G	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	A	4.258	0.046833	0.08243	.	.	ENSG00000143171	ENST00000359842	D	0.91577	-2.87	4.71	-0.855	0.10700	.	0.115539	0.38720	N	0.001597	T	0.33731	0.0873	N	0.00538	-1.39	0.27197	N	0.960272	B	0.02656	0.0	B	0.06405	0.002	T	0.41413	-0.9510	9	0.02654	T	1	.	1.3609	0.02191	0.368:0.1792:0.3277:0.1251	.	47	P48443	RXRG_HUMAN	E	47	ENSP00000352900:D47E	ENSP00000352900:D47E	D	-	3	2	RXRG	163664736	0.997000	0.39634	0.958000	0.39756	0.964000	0.63967	0.209000	0.17435	-0.020000	0.14032	-1.017000	0.02453	GAT		0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		5	63	0	0	0	0.000602	0	5	63				
ADAMTS18	170692	broad.mit.edu	37	16	77401350	77401350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	ENST00000282849.5	-	4	1184	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAMTS18_ENST00000567121.1_5'Flank	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	256					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCTTGCGTCGTCCACAAAAA	0.443																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(766-768)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 18							81.0	79.0	79.0					16																	77401350		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77401350G>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.766C>T	16.37:g.77401350G>A	ENSP00000282849:p.Arg256*						p.R256*	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			4	1184	-			256					Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.766C>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081865	0.98051	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	.	.	.	4.99	3.98	0.46160	.	0.064498	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9118	0.58184	0.0:0.0:0.76:0.2399	.	.	.	.	X	256	.	ENSP00000282849:R256X	R	-	1	2	ADAMTS18	75958851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.703000	0.47110	2.603000	0.88011	0.555000	0.69702	CGA		0.443	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			18	72	0	0	0	0.010504	0	18	72				
RIMS1	22999	broad.mit.edu	37	6	72889453	72889453	+	Missense_Mutation	SNP	C	C	T	rs373901709		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:72889453C>T	ENST00000521978.1	+	5	647	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RIMS1_ENST00000518273.1_Missense_Mutation_p.S216L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S216L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S216L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S216L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S216L|RIMS1_ENST00000264839.7_Missense_Mutation_p.S216L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S216L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	216					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAGCGATCGCGGTCTCAG	0.597																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(646-648)tCg>tTg		regulating synaptic membrane exocytosis 1		C	LEU/SER	0,4214		0,0,2107	73.0	83.0	80.0		647	5.7	0.1	6		80	1,8481		0,1,4240	no	missense	RIMS1	NM_014989.4	145	0,1,6347	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	216/1693	72889453	1,12695	2107	4241	6348	SO:0001583	missense	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889453C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.647C>T	6.37:g.72889453C>T	ENSP00000428417:p.Ser216Leu					RIMS1_ENST00000521978.1_Missense_Mutation_p.S216L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S216L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S216L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S216L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S216L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S216L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S216L	p.S216L			Q86UR5	RIMS1_HUMAN			5	647	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	216					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.647C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082589	0.94050	0.0	1.18E-4	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15952	2.38;2.52;2.44;2.52;2.51;2.51;2.51;2.43	5.65	5.65	0.86999	.	0.000000	0.53938	D	0.000042	T	0.12135	0.0295	L	0.52364	1.645	0.80722	D	1	P	0.46064	0.872	B	0.38683	0.279	T	0.02553	-1.1142	10	0.52906	T	0.07	-9.4667	19.7321	0.96186	0.0:1.0:0.0:0.0	.	216	Q86UR5	RIMS1_HUMAN	L	216	ENSP00000430101:S216L;ENSP00000275037:S216L;ENSP00000264839:S216L;ENSP00000429959:S216L;ENSP00000430408:S216L;ENSP00000430502:S216L;ENSP00000430932:S216L;ENSP00000428417:S216L	ENSP00000264839:S216L	S	+	2	0	RIMS1	72946174	1.000000	0.71417	0.122000	0.21767	0.911000	0.54048	7.594000	0.82698	2.668000	0.90789	0.655000	0.94253	TCG		0.597	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			5	150	0	0	0	0.001168	0	5	150				
PCSK2	5126	broad.mit.edu	37	20	17446133	17446133	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	ENST00000262545.2	+	11	1680	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.M420I|PCSK2_ENST00000377899.1_Missense_Mutation_p.M436I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	455					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGTGAAAATGGCTAAAGACT	0.567																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1363-1365)atG>atT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78.0	66.0	70.0					20																	17446133		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446133G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1365G>T	20.37:g.17446133G>T	ENSP00000262545:p.Met455Ile					PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.M420I|PCSK2_ENST00000377899.1_Missense_Mutation_p.M436I	p.M455I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			11	1680	+			455					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1365G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193715	0.58017	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.62498	0.02;0.02;0.02	5.68	5.68	0.88126	Galactose-binding domain-like (1);Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.037608	0.85682	D	0.000000	T	0.60483	0.2272	L	0.55834	1.745	0.58432	D	0.999999	B;B;B	0.22909	0.042;0.077;0.008	B;B;B	0.23018	0.043;0.043;0.007	T	0.55256	-0.8169	10	0.35671	T	0.21	-31.3417	18.3441	0.90315	0.0:0.0:1.0:0.0	.	420;436;455	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	I	436;455;420	ENSP00000367131:M436I;ENSP00000262545:M455I;ENSP00000437458:M420I	ENSP00000262545:M455I	M	+	3	0	PCSK2	17394133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.686000	0.91538	0.555000	0.69702	ATG		0.567	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		7	45	1	0	1.26484e-09	0.003080	2.00586e-09	7	45				
TUBGCP4	27229	broad.mit.edu	37	15	43695930	43695930	+	Missense_Mutation	SNP	C	C	T	rs149549954	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	ENST00000260383.7	+	16	2038	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.S594L			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	595					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20217	0.0		0.0	False		,,,				2504	0.0					ENST00000564079.1																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21						c.(1780-1782)tCg>tTg		tubulin, gamma complex associated protein 4		C	LEU/SER	15,3879		0,15,1932	83.0	81.0	81.0		1781	3.6	0.9	15	dbSNP_134	81	0,8298		0,0,4149	yes	missense	TUBGCP4	NM_014444.2	145	0,15,6081	TT,TC,CC		0.0,0.3852,0.123	benign	594/667	43695930	15,12177	1947	4149	6096	SO:0001583	missense	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43695930C>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1784C>T	15.37:g.43695930C>T	ENSP00000260383:p.Ser595Leu					TUBGCP4_ENST00000260383.7_Missense_Mutation_p.S595L|TUBGCP4_ENST00000399460.3_3'UTR	p.S594L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	16	2021	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	595					B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37	c.1781C>T		2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	13.74	2.327703	0.41197	0.003852	0.0	ENSG00000137822	ENST00000260383	.	.	.	5.51	3.56	0.40772	.	0.114577	0.64402	N	0.000008	T	0.22322	0.0538	N	0.11427	0.14	0.80722	D	1	P;B	0.35348	0.496;0.417	B;B	0.26864	0.034;0.074	T	0.04796	-1.0926	9	0.16420	T	0.52	-1.8871	10.4462	0.44495	0.0:0.8346:0.0:0.1654	.	595;594	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	L	594	.	ENSP00000260383:S594L	S	+	2	0	TUBGCP4	41483222	0.999000	0.42202	0.862000	0.33874	0.997000	0.91878	4.041000	0.57339	0.734000	0.32515	0.655000	0.94253	TCG		0.527	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		22	21	0	0	0	0.003330	0	22	21				
ATP8A2	51761	broad.mit.edu	37	13	26411309	26411309	+	Silent	SNP	C	C	A	rs375411072		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	ENST00000381655.2	+	29	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.T856T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	881					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2761-2763)acC>acA		ATPase, aminophospholipid transporter, class I, type 8A, member 2							115.0	112.0	113.0					13																	26411309		1911	4127	6038	SO:0001819	synonymous_variant	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411309C>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2763C>A	13.37:g.26411309C>A						ATP8A2_ENST00000255283.8_Silent_p.T856T|ATP8A2_ENST00000491840.1_3'UTR	p.T921T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	29	2905	+		Breast(139;0.0201)|Lung SC(185;0.0225)	881					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	c.2763C>A	CCDS41873.1																																																																																				0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		52	105	1	0	2.83923e-41	0.014410	4.79311e-41	52	105				
FAM120C	54954	broad.mit.edu	37	X	54209051	54209051	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	ENST00000375180.2	-	1	637	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.A194V|FAM120C_ENST00000328235.4_Missense_Mutation_p.A194V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	194							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721																																						ENST00000375180.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(580-582)gCg>gTg		family with sequence similarity 120C							28.0	20.0	23.0					X																	54209051		2185	4282	6467	SO:0001583	missense	54954							g.chrX:54209051G>A	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.581C>T	X.37:g.54209051G>A	ENSP00000364324:p.Ala194Val					FAM120C_ENST00000477084.1_Missense_Mutation_p.A194V|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.A194V	p.A194V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN			1	637	-			194					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.581C>T	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	10.37	1.330370	0.24167	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.56103	0.48;0.48;0.48	3.62	1.81	0.25067	.	0.222735	0.35585	U	0.003111	T	0.24122	0.0584	N	0.10972	0.075	0.46654	D	0.999148	P;B;P	0.40083	0.498;0.066;0.702	B;B;B	0.34722	0.139;0.019;0.188	T	0.08659	-1.0711	10	0.08837	T	0.75	-5.1376	8.5069	0.33193	0.2102:0.0:0.7898:0.0	.	194;194;194	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	V	194	ENSP00000364324:A194V;ENSP00000329896:A194V;ENSP00000420718:A194V	ENSP00000329896:A194V	A	-	2	0	FAM120C	54225776	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.860000	0.69546	0.211000	0.20683	0.513000	0.50165	GCG		0.721	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		7	15	0	0	0	0.001984	0	7	15				
CISH	1154	broad.mit.edu	37	3	50645154	50645154	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	ENST00000348721.3	-	3	841	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	CISH_ENST00000443053.2_Missense_Mutation_p.R238C	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	221	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622																																						ENST00000443053.2																			0				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(712-714)Cgc>Tgc		cytokine inducible SH2-containing protein							97.0	97.0	97.0					3																	50645154		2203	4300	6503	SO:0001583	missense	1154				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular		g.chr3:50645154G>A	Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.661C>T	3.37:g.50645154G>A	ENSP00000294173:p.Arg221Cys					CISH_ENST00000348721.3_Missense_Mutation_p.R221C	p.R238C	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	4	939	-			221			SOCS box.		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	37	c.712C>T	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394437	0.96009	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.51817	0.69;0.69	5.73	5.73	0.89815	SOCS protein, C-terminal (4);	0.100972	0.64402	D	0.000001	T	0.53302	0.1788	L	0.31420	0.93	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.55303	0.764;0.773	T	0.53795	-0.8388	10	0.56958	D	0.05	-17.355	19.5168	0.95168	0.0:0.0:1.0:0.0	.	238;221	G5E9R1;Q9NSE2	.;CISH_HUMAN	C	238;221	ENSP00000409346:R238C;ENSP00000294173:R221C	ENSP00000294173:R221C	R	-	1	0	CISH	50620158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.660000	0.74417	2.693000	0.91896	0.655000	0.94253	CGC		0.622	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		23	97	0	0	0	0.003330	0	23	97				
OR5D14	219436	broad.mit.edu	37	11	55563532	55563532	+	Silent	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	ENST00000335605.1	+	1	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(499-501)cgG>cgT		olfactory receptor, family 5, subfamily D, member 14							190.0	189.0	189.0					11																	55563532		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563532G>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.501G>T	11.37:g.55563532G>T							p.R167R	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	501	+		all_epithelial(135;0.196)	167					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.501G>T	CCDS31508.1																																																																																				0.502	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		34	163	1	0	6.05902e-23	0.003755	1.00133e-22	34	163				
ACSM1	116285	broad.mit.edu	37	16	20635526	20635526	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	ENST00000307493.4	-	12	1606	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ACSM1_ENST00000520010.1_Silent_p.A513A|ACSM1_ENST00000219151.4_Silent_p.A164A	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	513					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473																																						ENST00000219151.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(490-492)gcC>gcT		acyl-CoA synthetase medium-chain family member 1							144.0	118.0	126.0					16																	20635526		2201	4300	6501	SO:0001819	synonymous_variant	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20635526G>A	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1539C>T	16.37:g.20635526G>A						ACSM1_ENST00000307493.4_Silent_p.A513A|ACSM1_ENST00000520010.1_Silent_p.A513A	p.A164A			Q08AH1	ACSM1_HUMAN			13	1702	-			513					Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	c.492C>T	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	g	0.079	-1.188019	0.01607	.	.	ENSG00000166743	ENST00000524149	.	.	.	3.92	-7.84	0.01196	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40776	-0.9545	4	.	.	.	.	3.2152	0.06696	0.1921:0.3001:0.3873:0.1205	.	.	.	.	L	185	.	.	P	-	2	0	ACSM1	20543027	0.000000	0.05858	0.216000	0.23742	0.011000	0.07611	-6.600000	0.00060	-2.528000	0.00493	-0.347000	0.07816	CCT		0.473	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		21	69	0	0	0	0.014323	0	21	69				
TNXB	7148	broad.mit.edu	37	6	32049264	32049264	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	ENST00000375244.3	-	10	4124	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	TNXB_ENST00000375247.2_Missense_Mutation_p.A1308V|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1395	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3922-3924)gCg>gTg		tenascin XB							32.0	36.0	35.0					6																	32049264		2044	4183	6227	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32049264G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3923C>T	6.37:g.32049264G>A	ENSP00000364393:p.Ala1308Val					TNXB_ENST00000375247.2_Missense_Mutation_p.A1308V	p.A1308V			P22105	TENX_HUMAN			10	4124	-			1395			Fibronectin type-III 5.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3923C>T		.	.	.	.	.	.	.	.	.	.	G	10.20	1.284947	0.23392	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04551	3.6;3.6	5.55	-3.29	0.05017	.	2.028370	0.02480	N	0.088392	T	0.01558	0.0050	L	0.47716	1.5	0.09310	N	1	P	0.40681	0.727	B	0.36030	0.216	T	0.39482	-0.9612	10	0.39692	T	0.17	.	7.0117	0.24865	0.0:0.1808:0.3792:0.4399	.	1308	P22105-3	.	V	1308	ENSP00000364393:A1308V;ENSP00000364396:A1308V	ENSP00000364393:A1308V	A	-	2	0	TNXB	32157242	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-2.653000	0.00856	-0.857000	0.04115	-0.723000	0.03601	GCG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	18	0	0	0	0.000602	0	4	18				
HTR1E	3354	broad.mit.edu	37	6	87725427	87725427	+	Silent	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	ENST00000305344.5	+	2	1078	c.375C>A	c.(373-375)acC>acA	p.T125T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	125					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GGGCCATCACCAATGCTATTG	0.562																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(373-375)acC>acA		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						106.0	85.0	92.0					6																	87725427		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725427C>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.375C>A	6.37:g.87725427C>A						HTR1E_ENST00000369584.1_Silent_p.T125T	p.T125T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1078	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	125					E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.375C>A	CCDS5006.1																																																																																				0.562	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		17	127	1	0	1.67942e-08	0.006122	2.63668e-08	17	127				
TMCC3	57458	broad.mit.edu	37	12	94975589	94975589	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	ENST00000261226.4	-	2	935	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_ENST00000551457.1_Silent_p.N237N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592																																						ENST00000261226.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						c.(802-804)aaC>aaT		transmembrane and coiled-coil domain family 3							96.0	91.0	92.0					12																	94975589		2203	4300	6503	SO:0001819	synonymous_variant	57458					integral to membrane		g.chr12:94975589G>A	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.804C>T	12.37:g.94975589G>A						TMCC3_ENST00000551457.1_Silent_p.N237N	p.N268N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN			2	935	-			268					Q8IWB2	Silent	SNP	ENST00000261226.4	37	c.804C>T	CCDS31877.1																																																																																				0.592	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		24	93	0	0	0	0.002780	0	24	93				
CAMTA1	23261	broad.mit.edu	37	1	7796570	7796570	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:7796570C>T	ENST00000303635.7	+	13	3440	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1078V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1078					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGGGCTATGCCACCCTAATC	0.592			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3232-3234)gCc>gTc		calmodulin binding transcription activator 1							100.0	94.0	96.0					1																	7796570		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7796570C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3233C>T	1.37:g.7796570C>T	ENSP00000306522:p.Ala1078Val					CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1078V	p.A1078V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	13	3440	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1078					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.3233C>T	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.414015|5.414015	0.96072|0.96072	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646|ENST00000495233	T;T|.	0.32272|.	1.46;1.46|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53834|0.53834	0.1821|0.1821	N|N	0.16903|0.16903	0.455|0.455	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.997;0.991;1.0;0.998|.	D;P;D;D|.	0.85130|.	0.925;0.787;0.997;0.989|.	T|T	0.46610|0.46610	-0.9179|-0.9179	10|5	0.32370|.	T|.	0.25|.	-21.6065|-21.6065	20.04|20.04	0.97581|0.97581	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1078;165;34;1078|.	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1|.	.;.;.;CMTA1_HUMAN|.	V|S	1078;1078;165;34|35	ENSP00000306522:A1078V;ENSP00000402561:A1078V|.	ENSP00000306522:A1078V|.	A|P	+|+	2|1	0|0	CAMTA1|CAMTA1	7719157|7719157	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.793000|0.793000	0.44817|0.44817	5.915000|5.915000	0.69973|0.69973	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GCC|CCA		0.592	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		4	97	0	0	0	0.000602	0	4	97				
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																						ENST00000445430.1																			0																																																			0							g.chr3:195400814_195400815insTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT														0	1410_1411	+									RNA	INS	ENST00000445430.1	37																																																																																						0.574	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	29						7	29	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	7						6	7	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		1	Substitution - Missense(1)	p.F808L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2422-2424)ttfs		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						71.0	69.0	70.0					4																	55151636		2203	4300	6503	SO:0001589	frameshift_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151636delT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2422delT	4.37:g.55151636delT	ENSP00000257290:p.Phe808fs	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	p.F808fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2753	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		808			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Frame_Shift_Del	DEL	ENST00000257290.5	37	c.2422delT	CCDS3495.1																																																																																				0.418	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		9	2168						9	2168	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						ENST00000309964.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)del		clock circadian regulator																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		21	2528_2530	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	603						8	603	---	---	---	---
FAM21A	387680	broad.mit.edu	37	10	47909193	47909194	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr10:47909193_47909194delCC	ENST00000358474.5	+	10	763_764	c.763_764delCC	c.(763-765)cccfs	p.P256fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN		256					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTATTCACACCCCCCAAGCTG	0.515																																						ENST00000358474.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(763-765)cfs		family with sequence similarity 21, member B																																				SO:0001589	frameshift_variant	55747				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:47909193_47909194delCC																												ENST00000358474.5:c.763_764delCC	10.37:g.47909197_47909198delCC	ENSP00000351259:p.Pro256fs						p.P256fs	NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN			10	763_764	+			256						Frame_Shift_Del	DEL	ENST00000358474.5	37	c.763_764delCC	CCDS44379.1																																																																																				0.515	FAM21B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047871.2			2	4						2	4	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101514904	101514905	+	lincRNA	DEL	GT	GT	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr14:101514904_101514905delGT	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA|MIR539_ENST00000365690.2_RNA|MIR889_ENST00000401280.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR655_ENST00000362159.2_RNA|MIR381_ENST00000362150.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		CACCTCTGGGgtgtgtgtgtgt	0.47																																						ENST00000553692.1																			0																																																			0							g.chr14:101514904_101514905delGT	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.101514914_101514915delGT														0	28	+									RNA	DEL	ENST00000553692.1	37																																																																																						0.470	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	ENST00000269305.4	-	8	1022	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM961376	TP53	M		c.(832-834)ctfs	Other conserved DNA damage response genes	tumor protein p53							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577105delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833delC	17.37:g.7577105delG	ENSP00000269305:p.Pro278fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs	p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	965	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.833delC	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	13						38	13	---	---	---	---
EMILIN2	84034	broad.mit.edu	37	18	2891806	2891806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	ENST00000254528.3	+	4	1840	c.1681delC	c.(1681-1683)cctfs	p.P561fs		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	561					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(1681-1683)ctfs		elastin microfibril interfacer 2							74.0	70.0	71.0					18																	2891806		2203	4300	6503	SO:0001589	frameshift_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891806delC	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1681delC	18.37:g.2891806delC	ENSP00000254528:p.Pro561fs						p.P561fs	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1840	+			561					B2RMY3|Q8NBH3|Q96JQ4	Frame_Shift_Del	DEL	ENST00000254528.3	37	c.1681delC	CCDS11828.1																																																																																				0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		23	64						23	64	---	---	---	---
CYTH4	27128	broad.mit.edu	37	22	37705324	37705326	+	In_Frame_Del	DEL	CTT	CTT	-	rs542894219		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	ENST00000248901.6	+	9	955_957	c.768_770delCTT	c.(766-771)accttc>acc	p.F258del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	258					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(766-771)acc>ac		cytohesin 4																																				SO:0001651	inframe_deletion	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37705324_37705326delCTT	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.768_770delCTT	22.37:g.37705327_37705329delCTT	ENSP00000248901:p.Phe258del						p.TF256del	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			9	955_957	+			256					Q5R3F9|Q9UGT6	In_Frame_Del	DEL	ENST00000248901.6	37	c.768_770delCTT	CCDS13946.1																																																																																				0.567	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			45	81						45	81	---	---	---	---
