#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
TRIM24	8805	broad.mit.edu	37	7	138261187	138261187	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:138261187G>A	ENST00000343526.4	+	13	2299	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E			O15164	TIF1A_HUMAN	tripartite motif containing 24	695					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAAGCCGAGGAAGGTAAACT	0.378																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2083-2085)gGa>gAa		tripartite motif containing 24							108.0	100.0	103.0					7																	138261187		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138261187G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2084G>A	7.37:g.138261187G>A	ENSP00000340507:p.Gly695Glu					TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E	p.G695E			O15164	TIF1A_HUMAN			13	2299	+			695					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.2084G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052095	0.36181	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.78816	-1.21;-1.15	6.07	6.07	0.98685	.	0.093297	0.85682	D	0.000000	T	0.63343	0.2503	N	0.11560	0.145	0.42632	D	0.993385	B;B	0.27286	0.125;0.174	B;B	0.36244	0.056;0.22	T	0.60444	-0.7262	10	0.24483	T	0.36	-19.9506	10.9589	0.47374	0.1392:0.0:0.8608:0.0	.	695;661	O15164;O15164-2	TIF1A_HUMAN;.	E	695;606;661	ENSP00000340507:G695E;ENSP00000390829:G661E	ENSP00000340507:G695E	G	+	2	0	TRIM24	137911727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.922000	0.56462	2.885000	0.99019	0.655000	0.94253	GGA		0.378	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		8	87	0	0	0	1	0	8	87				
OXR1	55074	broad.mit.edu	37	8	107704967	107704967	+	Silent	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:107704967C>T	ENST00000442977.2	+	6	639	c.540C>T	c.(538-540)gtC>gtT	p.V180V	OXR1_ENST00000445937.1_Silent_p.V179V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000517566.2_Silent_p.V179V	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	180					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATCCTGATGTCCATCCAACAG	0.338																																						ENST00000445937.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(535-537)gtC>gtT		oxidation resistance 1							64.0	62.0	63.0					8																	107704967		2203	4300	6503	SO:0001819	synonymous_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107704967C>T	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.540C>T	8.37:g.107704967C>T						OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000517566.2_Silent_p.V179V|OXR1_ENST00000442977.2_Silent_p.V180V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000452423.2_5'UTR	p.V179V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	798	+			180					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	c.537C>T	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	C	8.311	0.822037	0.16678	.	.	ENSG00000164830	ENST00000517455	.	.	.	5.26	0.174	0.15040	.	.	.	.	.	T	0.41766	0.1173	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22173	-1.0224	4	.	.	.	-3.5456	1.5611	0.02595	0.1175:0.3721:0.2301:0.2803	.	.	.	.	F	96	.	.	S	+	2	0	OXR1	107774143	0.031000	0.19500	0.988000	0.46212	0.904000	0.53231	-0.279000	0.08479	-0.030000	0.13804	0.467000	0.42956	TCC		0.338	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		14	35	0	0	0	1	0	14	35				
KIF5C	3800	broad.mit.edu	37	2	149679749	149679749	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:149679749C>T	ENST00000435030.1	+	2	538	c.170C>T	c.(169-171)aCg>aTg	p.T57M				O60282	KIF5C_HUMAN	kinesin family member 5C	57	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCTCCCAACACGACCCAAGAG	0.408																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(169-171)aCg>aTg		kinesin family member 5C							95.0	94.0	94.0					2																	149679749		1888	4130	6018	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149679749C>T	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.170C>T	2.37:g.149679749C>T	ENSP00000393379:p.Thr57Met						p.T57M			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	2	538	+			57			Kinesin-motor.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.170C>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360585	0.82353	.	.	ENSG00000168280	ENST00000451033;ENST00000435030	T	0.73363	-0.74	5.28	5.28	0.74379	Kinesin, motor domain (4);	.	.	.	.	D	0.86830	0.6027	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88186	0.2874	8	0.87932	D	0	.	17.8536	0.88755	0.0:1.0:0.0:0.0	.	57	O60282	KIF5C_HUMAN	M	57	ENSP00000393379:T57M	ENSP00000393379:T57M	T	+	2	0	KIF5C	149396219	1.000000	0.71417	0.991000	0.47740	0.778000	0.44026	7.301000	0.78850	2.736000	0.93811	0.655000	0.94253	ACG		0.408	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		7	20	0	0	0	1	0	7	20				
AGTR2	186	broad.mit.edu	37	X	115303787	115303787	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:115303787A>G	ENST00000371906.4	+	3	444	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	85					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TACATCTTCAACCTCGCTGTG	0.378																																						ENST00000371906.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						c.(253-255)aAc>aGc		angiotensin II receptor, type 2							204.0	197.0	199.0					X																	115303787		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303787A>G	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.254A>G	X.37:g.115303787A>G	ENSP00000360973:p.Asn85Ser						p.N85S	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	444	+			85					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.254A>G	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300883	0.60195	.	.	ENSG00000180772	ENST00000371906	T	0.43688	0.94	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	M	0.67953	2.075	0.51482	D	0.999927	D	0.89917	1.0	D	0.97110	1.0	T	0.63712	-0.6575	10	0.87932	D	0	-8.7278	10.7502	0.46205	1.0:0.0:0.0:0.0	.	85	P50052	AGTR2_HUMAN	S	85	ENSP00000360973:N85S	ENSP00000360973:N85S	N	+	2	0	AGTR2	115217815	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	7.181000	0.77682	1.659000	0.50751	0.412000	0.27726	AAC		0.378	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		4	305	0	0	0	1	0	4	305				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		6	43	0	0	0	1	0	6	43				
MRPS23	51649	broad.mit.edu	37	17	55918578	55918578	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:55918578G>T	ENST00000313608.8	-	3	304	c.259C>A	c.(259-261)Cta>Ata	p.L87I	MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	87					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGATTGAATAGATCAAAAGCT	0.323																																						ENST00000313608.8																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(259-261)Cta>Ata		mitochondrial ribosomal protein S23							109.0	112.0	111.0					17																	55918578		2203	4300	6503	SO:0001583	missense	51649				translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr17:55918578G>T	AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.259C>A	17.37:g.55918578G>T	ENSP00000320184:p.Leu87Ile					MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN			3	304	-	Breast(9;8.75e-08)		87					B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	ENST00000313608.8	37	c.259C>A	CCDS11598.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754629	0.69648	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.22	3.07	0.35406	Ribosomal protein S23/S25, mitochondrial (1);	0.136026	0.51477	D	0.000099	T	0.70806	0.3266	M	0.73430	2.235	0.41356	D	0.987393	D	0.89917	1.0	D	0.85130	0.997	T	0.69914	-0.5016	9	0.87932	D	0	.	6.6557	0.22986	0.0991:0.0:0.729:0.1719	.	87	Q9Y3D9	RT23_HUMAN	I	87	.	ENSP00000320184:L87I	L	-	1	2	MRPS23	53273577	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.662000	0.46766	0.477000	0.27464	-0.355000	0.07637	CTA		0.323	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443301.1	NM_016070		48	71	1	0	6.3237e-29	1	6.71893e-29	48	71				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						ENST00000300131.3																			3	Substitution - coding silent(3)	p.P211P(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(631-633)ccT>ccC		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C						NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		3	11	0	0	0	1	0	3	11				
MST1L	11223	broad.mit.edu	37	1	17085056	17085056	+	RNA	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr1:17085056G>A	ENST00000455405.2	-	0	132							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CCACCCTCTTGCCACACTTCT	0.602																																						ENST00000455405.2																			0																																																			0							g.chr1:17085056G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085056G>A														0	132	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.602	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	55	0	0	0	1	0	5	55				
ZNF569	148266	broad.mit.edu	37	19	37903535	37903535	+	Silent	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:37903535C>T	ENST00000316950.6	-	6	2582	c.2025G>A	c.(2023-2025)tcG>tcA	p.S675S	ZNF569_ENST00000392150.2_Silent_p.S516S|ZNF569_ENST00000392149.2_Silent_p.S675S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACAAGGTGCGACTTTTGGC	0.408																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2023-2025)tcG>tcA		zinc finger protein 569							114.0	116.0	115.0					19																	37903535		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903535C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.2025G>A	19.37:g.37903535C>T						ZNF569_ENST00000392149.2_Silent_p.S675S|ZNF569_ENST00000392150.2_Silent_p.S516S	p.S675S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2582	-			675					A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.2025G>A	CCDS12503.1																																																																																				0.408	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		49	72	0	0	0	1	0	49	72				
CEACAM6	4680	broad.mit.edu	37	19	42259554	42259554	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:42259554C>T	ENST00000199764.6	+	1	226	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	3					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACCATGGGACCCCCCTCAGCC	0.612																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(7-9)cCc>cTc		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							100.0	95.0	96.0					19																	42259554		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42259554C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.8C>T	19.37:g.42259554C>T	ENSP00000199764:p.Pro3Leu					CEA_ENST00000598976.1_Intron	p.P3L	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	1	226	+			3					Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.8C>T	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010454	0.19277	.	.	ENSG00000086548	ENST00000199764	T	0.19394	2.15	2.15	-0.537	0.11872	.	.	.	.	.	T	0.16938	0.0407	L	0.57536	1.79	0.21675	N	0.999593	B	0.22604	0.072	B	0.26969	0.075	T	0.36261	-0.9755	9	0.23302	T	0.38	.	2.6477	0.04990	0.2747:0.5281:0.0:0.1971	.	3	P40199	CEAM6_HUMAN	L	3	ENSP00000199764:P3L	ENSP00000199764:P3L	P	+	2	0	CEACAM6	46951394	0.000000	0.05858	0.126000	0.21872	0.090000	0.18270	-1.163000	0.03138	-0.233000	0.09797	0.305000	0.20034	CCC		0.612	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			15	35	0	0	0	1	0	15	35				
FAM47C	442444	broad.mit.edu	37	X	37027114	37027114	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCGCCCGGAGCC	0.647																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(631-633)Cgc>Tgc		family with sequence similarity 47, member C							30.0	31.0	31.0					X																	37027114		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027114C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.631C>T	X.37:g.37027114C>T	ENSP00000367913:p.Arg211Cys						p.R211C	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	683	+			211					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.631C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	1.588	-0.529897	0.04112	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	1.03	-2.05	0.07321	.	.	.	.	.	T	0.09905	0.0243	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	9	0.49607	T	0.09	.	5.0213	0.14363	0.0:0.4935:0.0:0.5064	.	211	Q5HY64	FA47C_HUMAN	C	211	ENSP00000367913:R211C	ENSP00000367913:R211C	R	+	1	0	FAM47C	36937035	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.392000	0.02523	-0.805000	0.04404	-0.810000	0.03169	CGC		0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		22	35	0	0	0	1	0	22	35				
RSPH14	27156	broad.mit.edu	37	22	23401783	23401783	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:23401783C>T	ENST00000216036.4	-	7	1100	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		302										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(904-906)Gcc>Acc		rhabdoid tumor deletion region gene 1							79.0	80.0	80.0					22																	23401783		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23401783C>T																												ENST00000216036.4:c.904G>A	22.37:g.23401783C>T	ENSP00000216036:p.Ala302Thr						p.A302T	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	7	1100	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		302						Missense_Mutation	SNP	ENST00000216036.4	37	c.904G>A	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055289	0.36277	.	.	ENSG00000100218	ENST00000216036	T	0.50277	0.75	5.08	4.06	0.47325	Armadillo-like helical (1);Armadillo-type fold (1);	0.735360	0.13496	N	0.383623	T	0.31104	0.0786	L	0.34521	1.04	0.80722	D	1	P	0.43169	0.8	B	0.34180	0.177	T	0.03221	-1.1059	10	0.20519	T	0.43	-22.0375	9.7645	0.40552	0.0:0.9034:0.0:0.0966	.	302	Q9UHP6	RTDR1_HUMAN	T	302	ENSP00000216036:A302T	ENSP00000216036:A302T	A	-	1	0	RTDR1	21731783	1.000000	0.71417	0.985000	0.45067	0.218000	0.24690	1.394000	0.34509	1.286000	0.44565	0.561000	0.74099	GCC		0.642	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			34	44	0	0	0	1	0	34	44				
OR52N4	390072	broad.mit.edu	37	11	5776137	5776137	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr11:5776137C>T	ENST00000317254.3	+	1	215	c.167C>T	c.(166-168)gCc>gTc	p.A56V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGAGGATGCCCTGCACAAA	0.453																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(166-168)gCc>gTc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							164.0	166.0	165.0					11																	5776137		2127	4269	6396	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776137C>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.167C>T	11.37:g.5776137C>T	ENSP00000323224:p.Ala56Val					TRIM5_ENST00000380027.1_Intron	p.A56V	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	215	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	56					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.167C>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388812	0.25118	.	.	ENSG00000181074	ENST00000317254	T	0.00333	8.07	5.93	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.298816	0.24178	N	0.040833	T	0.00241	0.0007	L	0.45051	1.395	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.39440	-0.9614	10	0.59425	D	0.04	.	9.2302	0.37432	0.0:0.5246:0.3973:0.0781	.	56	Q8NGI2	O52N4_HUMAN	V	56	ENSP00000323224:A56V	ENSP00000323224:A56V	A	+	2	0	OR52N4	5732713	0.000000	0.05858	0.750000	0.31169	0.527000	0.34593	-0.081000	0.11321	1.505000	0.48720	0.551000	0.68910	GCC		0.453	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		3	58	0	0	0	1	0	3	58				
FUT8	2530	broad.mit.edu	37	14	66208905	66208905	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:66208905A>G	ENST00000360689.5	+	11	3232	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R	FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTTGGGGGCCAGAATGCCCAC	0.438																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(1504-1506)cAg>cGg		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							129.0	130.0	130.0					14																	66208905		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66208905A>G	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1505A>G	14.37:g.66208905A>G	ENSP00000353910:p.Gln502Arg					FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R	p.Q502R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	3232	+			502			SH3.		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1505A>G	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.587081	0.86851	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	6.17	6.17	0.99709	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	M	0.85197	2.74	0.80722	D	1	P;D;D	0.62365	0.666;0.991;0.991	B;D;D	0.74023	0.264;0.974;0.982	T	0.81176	-0.1052	10	0.62326	D	0.03	-15.3216	14.7743	0.69713	1.0:0.0:0.0:0.0	.	96;373;502	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	R	502;502;339;502;373;96	ENSP00000353910:Q502R;ENSP00000378087:Q502R;ENSP00000452433:Q339R;ENSP00000378086:Q502R;ENSP00000351057:Q373R;ENSP00000396770:Q96R	ENSP00000351057:Q373R	Q	+	2	0	FUT8	65278658	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	CAG		0.438	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		5	137	0	0	0	1	0	5	137				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		7	42	0	0	0	1	0	7	42				
TLE3	7090	broad.mit.edu	37	15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	472					Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1414-1416)gGc>gAc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							55.0	63.0	60.0					15																	70347560		2199	4298	6497	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70347560C>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.1415G>A	15.37:g.70347560C>T	ENSP00000452871:p.Gly472Asp					TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000317509.8_Missense_Mutation_p.G460D	p.G472D			Q04726	TLE3_HUMAN			15	2792	-			472					B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.1415G>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567493	0.86439	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550;ENST00000542329	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.54	3.62	0.41486	WD40 repeat-like-containing domain (1);	0.365640	0.30193	N	0.010187	T	0.35189	0.0923	M	0.88241	2.94	0.80722	D	1	P;D;D;D;D;D;D;D	0.67145	0.904;0.969;0.996;0.969;0.992;0.969;0.985;0.982	P;P;P;P;D;P;D;P	0.67548	0.644;0.788;0.897;0.724;0.952;0.657;0.921;0.815	T	0.31081	-0.9956	10	0.59425	D	0.04	-11.2741	11.6082	0.51045	0.0:0.9116:0.0:0.0884	.	462;469;464;467;460;472;472;399	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	D	464;469;472;462;399;139	ENSP00000390007:G464D;ENSP00000394717:G469D;ENSP00000415057:G462D;ENSP00000442594:G399D	ENSP00000319233:G472D	G	-	2	0	TLE3	68134614	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	4.747000	0.62141	1.137000	0.42214	0.462000	0.41574	GGC		0.637	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		3	51	0	0	0	1	0	3	51				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			19	38	0	0	0	1	0	19	38				
CDH17	1015	broad.mit.edu	37	8	95178204	95178204	+	Splice_Site	SNP	C	C	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:95178204C>A	ENST00000027335.3	-	10	1191	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	CDH17_ENST00000441892.2_Splice_Site_p.G142V|CDH17_ENST00000450165.2_Splice_Site_p.G356V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATACTGTTACCTATGAGGAA	0.398																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.e10-1		cadherin 17, LI cadherin (liver-intestine)							51.0	52.0	52.0					8																	95178204		2203	4300	6503	SO:0001630	splice_region_variant	1015					integral to membrane	calcium ion binding	g.chr8:95178204C>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1067-1G>T	8.37:g.95178204C>A						CDH17_ENST00000441892.2_Splice_Site_p.G142_splice|CDH17_ENST00000450165.2_Splice_Site_p.G356_splice	p.G356_splice	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		10	1191	-	Breast(36;4.65e-06)		356			Cadherin 4.		Q15336|Q2M2E0	Splice_Site	SNP	ENST00000027335.3	37	c.1066_splice	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223645	0.58668	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.69175	-0.38;-0.38;-0.38	5.62	4.74	0.60224	Cadherin (3);Cadherin-like (1);	0.123572	0.36628	N	0.002488	D	0.85936	0.5813	H	0.94847	3.59	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.982	D	0.89538	0.3790	10	0.87932	D	0	.	13.6647	0.62387	0.1558:0.8442:0.0:0.0	.	142;356	E7EN24;Q12864	.;CAD17_HUMAN	V	356;142;356	ENSP00000027335:G356V;ENSP00000392811:G142V;ENSP00000401468:G356V	ENSP00000027335:G356V	G	-	2	0	CDH17	95247380	0.973000	0.33851	0.711000	0.30485	0.018000	0.09664	2.384000	0.44362	1.341000	0.45600	0.561000	0.74099	GGT		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	Missense_Mutation	9	19	1	0	0.000673444	1	0.000700932	9	19				
SIRT1	23411	broad.mit.edu	37	10	69669113	69669113	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr10:69669113G>C	ENST00000212015.6	+	7	1324	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T|SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	424	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|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)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CAGTTTCATAGAGCCATGAAG	0.418																																						ENST00000212015.6																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						c.(1270-1272)aGa>aCa		sirtuin 1							109.0	101.0	104.0					10																	69669113		2203	4300	6503	SO:0001583	missense	23411				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding	g.chr10:69669113G>C	AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1271G>C	10.37:g.69669113G>C	ENSP00000212015:p.Arg424Thr					SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T|SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T	p.R424T	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN			7	1324	+			424			Deacetylase sirtuin-type.		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	ENST00000212015.6	37	c.1271G>C	CCDS7273.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189155	0.57909	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.53	5.53	0.82687	.	0.048110	0.85682	N	0.000000	T	0.33990	0.0882	N	0.25957	0.775	0.54753	D	0.999989	B;B	0.12013	0.001;0.005	B;B	0.15484	0.005;0.013	T	0.06197	-1.0840	10	0.25751	T	0.34	-9.2802	19.0817	0.93185	0.0:0.0:1.0:0.0	.	121;424	B0QZ35;Q96EB6	.;SIRT1_HUMAN	T	424;129;121;121	ENSP00000212015:R424T;ENSP00000409208:R129T;ENSP00000384508:R121T;ENSP00000384063:R121T	ENSP00000212015:R424T	R	+	2	0	SIRT1	69339119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.167000	0.94773	2.587000	0.87381	0.563000	0.77884	AGA		0.418	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			41	40	0	0	0	1	0	41	40				
CLDND1	56650	broad.mit.edu	37	3	98235544	98235544	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:98235544G>A	ENST00000503004.1	-	5	1600	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	241						apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TACTCTTTCCGGTTGGTGTGA	0.428																																						ENST00000503004.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						c.(721-723)Cgg>Tgg		claudin domain containing 1							112.0	95.0	101.0					3																	98235544		2203	4300	6503	SO:0001583	missense	56650					integral to membrane		g.chr3:98235544G>A	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.721C>T	3.37:g.98235544G>A	ENSP00000421226:p.Arg241Trp					CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W|CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W|CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W	p.R241W			Q9NY35	CLDN1_HUMAN			5	1600	-			241					B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Missense_Mutation	SNP	ENST00000503004.1	37	c.721C>T	CCDS2930.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134016	0.56828	.	.	ENSG00000080822	ENST00000341181;ENST00000437922;ENST00000394180;ENST00000503004;ENST00000394185;ENST00000394181;ENST00000510545;ENST00000511081;ENST00000513287;ENST00000511667;ENST00000513452	T;T;T;T;T;T;T;T;T;T;T	0.35236	1.69;1.67;1.69;1.69;1.69;1.69;1.69;1.36;1.69;1.32;1.69	6.03	6.03	0.97812	.	0.222920	0.46758	D	0.000279	T	0.35335	0.0928	L	0.27053	0.805	0.46542	D	0.999096	D;P;D	0.56287	0.975;0.916;0.975	P;B;P	0.46339	0.513;0.165;0.513	T	0.11817	-1.0572	10	0.87932	D	0	-8.8708	18.0507	0.89347	0.0:0.0:1.0:0.0	.	241;146;241	D6RCR8;F2Z2D9;Q9NY35	.;.;CLDN1_HUMAN	W	241;264;241;241;241;241;241;146;241;219;241	ENSP00000340247:R241W;ENSP00000388457:R264W;ENSP00000377734:R241W;ENSP00000421226:R241W;ENSP00000377739:R241W;ENSP00000377735:R241W;ENSP00000423590:R241W;ENSP00000424669:R146W;ENSP00000426869:R241W;ENSP00000423732:R219W;ENSP00000425539:R241W	ENSP00000340247:R241W	R	-	1	2	CLDND1	99718234	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.514000	0.60482	2.861000	0.98227	0.655000	0.94253	CGG		0.428	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		15	33	0	0	0	1	0	15	33				
CMIP	80790	broad.mit.edu	37	16	81735339	81735339	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:81735339G>C	ENST00000537098.3	+	16	1902	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	CMIP_ENST00000539778.2_Missense_Mutation_p.E516D|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	610						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CAACCCTGGAGAGCACAGACG	0.587																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(1828-1830)gaG>gaC		c-Maf inducing protein							190.0	198.0	195.0					16																	81735339		2173	4273	6446	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81735339G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1830G>C	16.37:g.81735339G>C	ENSP00000446100:p.Glu610Asp					CMIP_ENST00000539778.2_Missense_Mutation_p.E516D|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D	p.E610D	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			16	1902	+			576					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1830G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839383	0.51057	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09817	2.94;2.94	4.83	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	N	0.24115	0.695	0.45194	D	0.998205	P;P;P	0.49783	0.928;0.928;0.671	P;P;B	0.44518	0.452;0.452;0.073	T	0.09058	-1.0692	10	0.52906	T	0.07	.	9.6054	0.39630	0.1608:0.0:0.8392:0.0	.	457;516;610	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	D	610;516;516;423	ENSP00000446100:E610D;ENSP00000440401:E516D	ENSP00000381120:E516D	E	+	3	2	CMIP	80292840	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.301000	0.65727	2.233000	0.73108	0.313000	0.20887	GAG		0.587	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		63	114	0	0	0	1	0	63	114				
TMC3	342125	broad.mit.edu	37	15	81627192	81627192	+	Silent	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:81627192T>C	ENST00000359440.5	-	21	2463	c.2328A>G	c.(2326-2328)tcA>tcG	p.S776S	TMC3_ENST00000558726.1_Silent_p.S777S|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCTGCTCCCTGAGTCAAAAT	0.607																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2329-2331)tcA>tcG		transmembrane channel-like 3							133.0	130.0	131.0					15																	81627192		2076	4218	6294	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81627192T>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2328A>G	15.37:g.81627192T>C						RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.S776S|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	p.S777S			Q7Z5M5	TMC3_HUMAN			21	2466	-			776						Silent	SNP	ENST00000359440.5	37	c.2331A>G	CCDS45324.1																																																																																				0.607	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		3	42	0	0	0	1	0	3	42				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	48	0	0	0	1	0	3	48				
KMT2C	58508	broad.mit.edu	37	7	152012290	152012290	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:152012290C>A	ENST00000262189.6	-	4	741	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D175Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	175					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGCTGTTGTCATCAATGTCC	0.378																																						ENST00000355193.2																			0											c.(523-525)Gac>Tac		lysine (K)-specific methyltransferase 2C							264.0	230.0	242.0					7																	152012290		2202	4300	6502	SO:0001583	missense	58508							g.chr7:152012290C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.523G>T	7.37:g.152012290C>A	ENSP00000262189:p.Asp175Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.D175Y	p.D175Y							4	741	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.523G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899417	0.52227	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84370	-1.84;-1.84	5.78	5.78	0.91487	.	0.138244	0.31821	N	0.007005	D	0.83903	0.5355	L	0.29908	0.895	0.80722	D	1	P	0.49961	0.93	P	0.48030	0.564	D	0.85287	0.1065	10	0.62326	D	0.03	.	20.0137	0.97470	0.0:1.0:0.0:0.0	.	175	Q8NEZ4	MLL3_HUMAN	Y	175	ENSP00000262189:D175Y;ENSP00000347325:D175Y	ENSP00000262189:D175Y	D	-	1	0	MLL3	151643223	1.000000	0.71417	0.921000	0.36526	0.991000	0.79684	2.934000	0.48956	2.734000	0.93682	0.563000	0.77884	GAC		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			79	284	1	0	1.25742e-37	1	1.36444e-37	79	284				
DDX54	79039	broad.mit.edu	37	12	113614883	113614883	+	Silent	SNP	A	A	G			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:113614883A>G	ENST00000306014.5	-	6	657	c.630T>C	c.(628-630)ttT>ttC	p.F210F	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Silent_p.F210F	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGGGCTGCAAACTGGTCTT	0.517																																						ENST00000314045.7																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(628-630)ttT>ttC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							150.0	134.0	140.0					12																	113614883		2203	4300	6503	SO:0001819	synonymous_variant	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113614883A>G	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.630T>C	12.37:g.113614883A>G						DDX54_ENST00000306014.5_Silent_p.F210F	p.F210F	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN			6	657	-			210			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Silent	SNP	ENST00000306014.5	37	c.630T>C	CCDS31907.1																																																																																				0.517	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		22	38	0	0	0	1	0	22	38				
MYH8	4626	broad.mit.edu	37	17	10298604	10298604	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:10298604G>A	ENST00000403437.2	-	34	4902	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1603					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCATCCAGCGTGCTCTGCAT	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4807-4809)aCg>aTg		myosin, heavy chain 8, skeletal muscle, perinatal							230.0	191.0	205.0					17																	10298604		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298604G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4808C>T	17.37:g.10298604G>A	ENSP00000384330:p.Thr1603Met					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T1603M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			34	4902	-			1603					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4808C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321914	0.41096	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79454	-1.27	4.85	2.83	0.33086	Myosin tail (1);	0.000000	0.42964	U	0.000639	T	0.76162	0.3949	M	0.80982	2.52	0.41888	D	0.990353	B	0.14012	0.009	B	0.13407	0.009	T	0.73325	-0.4018	10	0.66056	D	0.02	.	9.39	0.38367	0.0749:0.0:0.7812:0.1439	.	1603	P13535	MYH8_HUMAN	M	1603	ENSP00000384330:T1603M	ENSP00000252173:T1603M	T	-	2	0	MYH8	10239329	1.000000	0.71417	0.574000	0.28523	0.931000	0.56810	4.547000	0.60712	0.622000	0.30249	0.650000	0.86243	ACG		0.428	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		40	100	0	0	0	1	0	40	100				
LTA4H	4048	broad.mit.edu	37	12	96400139	96400139	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:96400139G>A	ENST00000228740.2	-	16	1624	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F|LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|LTA4H_ENST00000548375.1_5'UTR	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	495					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	TGAGAAGAGAGATCCTTCAGG	0.338																																						ENST00000228740.2																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						c.(1483-1485)Ctc>Ttc		leukotriene A4 hydrolase							106.0	104.0	105.0					12																	96400139		2203	4300	6503	SO:0001583	missense	4048				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr12:96400139G>A	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1483C>T	12.37:g.96400139G>A	ENSP00000228740:p.Leu495Phe					LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F	p.L495F	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN			16	1624	-			495					B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	c.1483C>T	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	G	8.739	0.918426	0.17982	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.37411	1.2;1.2;1.2	5.74	3.64	0.41730	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.258586	0.39909	N	0.001236	T	0.14657	0.0354	N	0.04880	-0.145	0.50039	D	0.999847	B;B;B	0.13145	0.004;0.007;0.001	B;B;B	0.11329	0.006;0.003;0.004	T	0.07829	-1.0752	10	0.14656	T	0.56	-10.2335	5.8516	0.18696	0.1054:0.0:0.6253:0.2692	.	471;471;495	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	F	495;471;471	ENSP00000228740:L495F;ENSP00000449958:L471F;ENSP00000395051:L471F	ENSP00000228740:L495F	L	-	1	0	LTA4H	94924270	0.991000	0.36638	1.000000	0.80357	0.905000	0.53344	1.290000	0.33319	1.319000	0.45190	0.561000	0.74099	CTC		0.338	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408655.1	NM_000895		9	19	0	0	0	1	0	9	19				
ITPR1	3708	broad.mit.edu	37	3	4829646	4829646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:4829646C>T	ENST00000443694.2	+	49	6586	c.6586C>T	c.(6586-6588)Cga>Tga	p.R2196*	ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGATTAGACCGAACAATGGA	0.388																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6586-6588)Cga>Tga		inositol 1,4,5-trisphosphate receptor, type 1							72.0	64.0	67.0					3																	4829646		1876	4115	5991	SO:0001587	stop_gained	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4829646C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6586C>T	3.37:g.4829646C>T	ENSP00000401671:p.Arg2196*					ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.R2196*	p.R2196*	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	51	6936	+			2211					E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.6586C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	47	13.686002	0.99757	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6282	0.76878	0.1472:0.8528:0.0:0.0	.	.	.	.	X	2211;2196;2196;2163;657;2163;2148;2196	.	ENSP00000306253:R2196X	R	+	1	2	ITPR1	4804646	1.000000	0.71417	0.994000	0.49952	0.074000	0.17049	3.231000	0.51294	1.217000	0.43442	0.561000	0.74099	CGA		0.388	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		3	10	0	0	0	1	0	3	10				
HUWE1	10075	broad.mit.edu	37	X	53579402	53579402	+	Splice_Site	SNP	G	G	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:53579402G>C	ENST00000342160.3	-	62	9208	c.8751C>G	c.(8749-8751)agC>agG	p.S2917R	HUWE1_ENST00000262854.6_Splice_Site_p.S2917R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2917					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGTGGGGAGCTGAGGGAAA	0.488																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.e62-1		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							49.0	44.0	46.0					X																	53579402		2203	4300	6503	SO:0001630	splice_region_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53579402G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8751-1C>G	X.37:g.53579402G>C						HUWE1_ENST00000262854.6_Splice_Site_p.S2917_splice	p.S2917_splice			Q7Z6Z7	HUWE1_HUMAN			62	9208	-			2917					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Splice_Site	SNP	ENST00000342160.3	37	c.8750_splice	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.624994|2.624994	0.46840|0.46840	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.35973	.|1.28;1.28	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.642748	.|0.17050	.|N	.|0.188954	T|T	0.25568|0.25568	0.0622|0.0622	N|N	0.14661|0.14661	0.345|0.345	0.45250|0.45250	D|D	0.99825|0.99825	.|B;B	.|0.21905	.|0.022;0.062	.|B;B	.|0.23716	.|0.004;0.048	T|T	0.10405|0.10405	-1.0631|-1.0631	5|10	.|0.13470	.|T	.|0.59	.|.	18.0042|18.0042	0.89205|0.89205	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2917;2917	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	V|R	1951|2917	.|ENSP00000340648:S2917R;ENSP00000262854:S2917R	.|ENSP00000262854:S2917R	L|S	-|-	1|3	0|2	HUWE1|HUWE1	53596127|53596127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	2.999000|2.999000	0.49473|0.49473	2.528000|2.528000	0.85240|0.85240	0.529000|0.529000	0.55759|0.55759	CTC|AGC		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	Missense_Mutation	4	18	0	0	0	1	0	4	18				
NDRG3	57446	broad.mit.edu	37	20	35293669	35293669	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr20:35293669C>T	ENST00000349004.1	-	11	809	c.728G>A	c.(727-729)gGc>gAc	p.G243D	NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D|NDRG3_ENST00000373803.2_Missense_Mutation_p.G243D	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	243					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATCATTTTGGCCCAGTATGGG	0.378																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(727-729)gGc>gAc		NDRG family member 3							249.0	252.0	251.0					20																	35293669		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35293669C>T	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.728G>A	20.37:g.35293669C>T	ENSP00000345292:p.Gly243Asp					NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D|NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000349004.1_Missense_Mutation_p.G243D	p.G243D			Q9UGV2	NDRG3_HUMAN			11	784	-		Myeloproliferative disorder(115;0.00878)	243					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.728G>A	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767177	0.49574	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.0	4.05	0.47172	.	0.048168	0.85682	D	0.000000	T	0.44582	0.1300	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	T	0.49624	-0.8920	10	0.52906	T	0.07	.	12.8181	0.57677	0.1647:0.8353:0.0:0.0	.	148;231;243	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	D	243;243;231;148;139	ENSP00000345292:G243D;ENSP00000362909:G243D;ENSP00000352703:G231D;ENSP00000362878:G148D;ENSP00000442813:G139D	ENSP00000345292:G243D	G	-	2	0	NDRG3	34727083	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	5.192000	0.65115	1.451000	0.47736	-0.188000	0.12872	GGC		0.378	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			4	201	0	0	0	1	0	4	201				
STAB1	23166	broad.mit.edu	37	3	52539130	52539130	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:52539130G>A	ENST00000321725.6	+	13	1565	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	497					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGTGGCAGGCCCCCTCTGG	0.607																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1489-1491)Gcc>Acc		stabilin 1							70.0	78.0	76.0					3																	52539130		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52539130G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1489G>A	3.37:g.52539130G>A	ENSP00000312946:p.Ala497Thr						p.A497T	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	13	1565	+			497					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1489G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311361	0.10789	.	.	ENSG00000010327	ENST00000321725	T	0.72167	-0.63	5.46	2.67	0.31697	FAS1 domain (3);	0.485872	0.21330	N	0.076311	T	0.45236	0.1332	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.23404	-1.0189	10	0.21014	T	0.42	.	7.7599	0.28946	0.0:0.5986:0.3159:0.0855	.	497;497	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	T	497	ENSP00000312946:A497T	ENSP00000312946:A497T	A	+	1	0	STAB1	52514170	0.013000	0.17824	0.119000	0.21687	0.546000	0.35178	0.893000	0.28336	0.277000	0.22141	-0.776000	0.03382	GCC		0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		30	44	0	0	0	1	0	30	44				
DSP	1832	broad.mit.edu	37	6	7579935	7579935	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr6:7579935T>C	ENST00000379802.3	+	23	3853	c.3512T>C	c.(3511-3513)aTt>aCt	p.I1171T	DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1171	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTACGAGATTGAAAGGTTG	0.443																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(3511-3513)aTt>aCt		desmoplakin							77.0	76.0	76.0					6																	7579935		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7579935T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3512T>C	6.37:g.7579935T>C	ENSP00000369129:p.Ile1171Thr					DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	3853	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1171			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3512T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781224	0.31502	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.91792	-2.91;-2.91	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000007	D	0.90717	0.7087	L	0.40543	1.245	0.44603	D	0.997571	B;D	0.63880	0.014;0.993	B;D	0.72338	0.008;0.977	D	0.88715	0.3225	10	0.13470	T	0.59	.	14.7062	0.69191	0.0:0.0:0.0:1.0	.	1218;1171	Q4LE79;P15924	.;DESP_HUMAN	T	1171	ENSP00000369129:I1171T;ENSP00000396591:I1171T	ENSP00000369129:I1171T	I	+	2	0	DSP	7524934	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	5.091000	0.64505	1.870000	0.54199	0.455000	0.32223	ATT		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		19	25	0	0	0	1	0	19	25				
TRAV9-2	28677	broad.mit.edu	37	14	22409646	22409646	+	RNA	SNP	G	G	A			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:22409646G>A	ENST00000390441.2	+	0	192									T cell receptor alpha variable 9-2																		CACGTACACAGCCACAGGATA	0.498																																						ENST00000390441.2																			0																				81.0	76.0	77.0					14																	22409646		1928	4134	6062			0							g.chr14:22409646G>A	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409646G>A														0	192	+									RNA	SNP	ENST00000390441.2	37																																																																																						0.498	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		10	18	0	0	0	1	0	10	18				
TRPV6	55503	broad.mit.edu	37	7	142573433	142573433	+	Splice_Site	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:142573433C>T	ENST00000359396.3	-	8	1155	c.910G>A	c.(910-912)Gct>Act	p.A304T	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	304					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGGCGAGCCTGCAACAGA	0.597																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.e8-1		transient receptor potential cation channel, subfamily V, member 6							65.0	68.0	67.0					7																	142573433		2203	4300	6503	SO:0001630	splice_region_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573433C>T	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.910-1G>A	7.37:g.142573433C>T							p.A304_splice	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			8	1155	-	Melanoma(164;0.059)		304					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Splice_Site	SNP	ENST00000359396.3	37	c.909_splice	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728305	0.89390	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.47869	0.83	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75085	-0.3442	10	0.30854	T	0.27	-12.3778	16.8604	0.86016	0.0:1.0:0.0:0.0	.	304	Q9H1D0	TRPV6_HUMAN	T	304;136	ENSP00000352358:A304T	ENSP00000310825:A136T	A	-	1	0	TRPV6	142283555	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.614000	0.82996	2.458000	0.83093	0.655000	0.94253	GCT		0.597	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	Missense_Mutation	4	120	0	0	0	1	0	4	120				
INPP5E	56623	broad.mit.edu	37	9	139326361	139326361	+	Silent	SNP	G	G	A	rs140255426		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:139326361G>A	ENST00000371712.3	-	7	1866	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCGTCCACGACTGTGCGCC	0.667													N|||	0	0.0	0.0	0.0	5008	,	,		8856	0.0		0.0	False		,,,				2504	0.0					ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(1462-1464)gtC>gtT		inositol polyphosphate-5-phosphatase, 72 kDa		G		7,4393		0,7,2193	39.0	37.0	38.0		1464	-6.9	0.0	9	dbSNP_134	38	0,8598		0,0,4299	no	coding-synonymous	INPP5E	NM_019892.4		0,7,6492	AA,AG,GG		0.0,0.1591,0.0539		488/645	139326361	7,12991	2200	4299	6499	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139326361G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1464C>T	9.37:g.139326361G>A							p.V488V	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	7	1866	-		Myeloproliferative disorder(178;0.0511)	488					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.1464C>T	CCDS7000.1																																																																																				0.667	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		14	11	0	0	0	1	0	14	11				
HPRT1	3251	broad.mit.edu	37	X	133627577	133627577	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:133627577T>C	ENST00000298556.7	+	6	601	c.442T>C	c.(442-444)Tcc>Ccc	p.S148P	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	148					adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	GACTTTGCTTTCCTTGGTCAG	0.353																																						ENST00000298556.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(442-444)Tcc>Ccc		hypoxanthine phosphoribosyltransferase 1	Mercaptopurine(DB01033)|Thioguanine(DB00352)						189.0	173.0	178.0					X																	133627577		2203	4300	6503	SO:0001583	missense	3251				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chrX:133627577T>C	M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"""Lesch-Nyhan syndrome"""	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.442T>C	X.37:g.133627577T>C	ENSP00000298556:p.Ser148Pro					HPRT1_ENST00000462974.1_3'UTR	p.S148P	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN			6	601	+	Acute lymphoblastic leukemia(192;0.000127)		148					A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	c.442T>C	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	T	7.774	0.708098	0.15239	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99856	-7.21	5.56	4.37	0.52481	Phosphoribosyltransferase (1);	0.234633	0.42294	D	0.000738	D	0.98940	0.9640	L	0.28458	0.855	0.43857	D	0.996457	B	0.02656	0.0	B	0.04013	0.001	D	0.99981	1.2543	10	0.24483	T	0.36	-4.2241	10.2327	0.43264	0.0:0.0:0.3154:0.6846	.	148	P00492	HPRT_HUMAN	P	148	ENSP00000298556:S148P	ENSP00000298556:S148P	S	+	1	0	HPRT1	133455243	1.000000	0.71417	0.837000	0.33122	0.576000	0.36127	1.523000	0.35932	0.729000	0.32403	0.417000	0.27973	TCC		0.353	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		89	122	0	0	0	1	0	89	122				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	57	0	0	0	1	0	4	57				
MAATS1	89876	broad.mit.edu	37	3	119449113	119449113	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:119449113C>T	ENST00000273390.5	+	8	984	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	303						mitochondrion (GO:0005739)											GTTGAGGAAGCGTGAAGAGAA	0.428																																						ENST00000273390.5																			0											c.(907-909)Cgt>Tgt		MYCBP-associated, testis expressed 1							164.0	167.0	166.0					3																	119449113		2203	4300	6503	SO:0001583	missense	89876							g.chr3:119449113C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.907C>T	3.37:g.119449113C>T	ENSP00000273390:p.Arg303Cys						p.R303C	NM_033364.3	NP_203528.2					8	984	+								A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.907C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539645	0.65085	.	.	ENSG00000183833	ENST00000273390	T	0.35421	1.31	5.2	4.33	0.51752	.	0.046933	0.85682	D	0.000000	T	0.60650	0.2285	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.996;0.998	T	0.65038	-0.6265	10	0.87932	D	0	-20.7372	9.0865	0.36584	0.1456:0.7801:0.0:0.0743	.	303;64;241;303;303	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	C	303	ENSP00000273390:R303C	ENSP00000273390:R303C	R	+	1	0	C3orf15	120931803	1.000000	0.71417	0.309000	0.25155	0.886000	0.51366	2.110000	0.41873	1.321000	0.45227	0.557000	0.71058	CGT		0.428	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		5	185	0	0	0	1	0	5	185				
TMEFF1	8577	broad.mit.edu	37	9	103338864	103338864	+	Frame_Shift_Del	DEL	G	G	-	rs201911679		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:103338864delG	ENST00000374879.4	+	10	1557	c.1125delG	c.(1123-1125)acgfs	p.T375fs	TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs|MURC_ENST00000307584.5_5'Flank	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	375					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTTCAGATACGTCATCCAGAA	0.308																																						ENST00000374879.4																			0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(1123-1125)acfs		transmembrane protein with EGF-like and two follistatin-like domains 1							153.0	146.0	149.0					9																	103338864		2203	4300	6503	SO:0001589	frameshift_variant	8577							g.chr9:103338864delG	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.1125delG	9.37:g.103338864delG	ENSP00000364013:p.Thr375fs					TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs	p.T375fs	NM_003692.4	NP_003683.2					10	1557	+		Acute lymphoblastic leukemia(62;0.0452)						Q13086|Q8N3T8	Frame_Shift_Del	DEL	ENST00000374879.4	37	c.1125delG	CCDS6750.1																																																																																				0.308	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	NM_003692		25	77						25	77	---	---	---	---
GPX2	2877	broad.mit.edu	37	14	65406518	65406519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:65406518_65406519insT	ENST00000389614.5	-	2	346_347	c.260_261insA	c.(259-261)aagfs	p.K87fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	87					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GACGGACATACTTGAGACTGTT	0.52																																						ENST00000389614.5																			0				large_intestine(2)|ovary(1)|skin(1)	4						c.(259-261)atafs		glutathione peroxidase 2 (gastrointestinal)	Glutathione(DB00143)																																			SO:0001589	frameshift_variant	2877				response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity	g.chr14:65406518_65406519insT		CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.261dupA	14.37:g.65406520_65406520dupT	ENSP00000374265:p.Lys87fs					CHURC1-FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000542227.1_Intron	p.I87fs	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN		all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	2	346_347	-			87					Q6PJ52|Q8WWI7|Q9NRP9	Frame_Shift_Ins	INS	ENST00000389614.5	37	c.260_261insA	CCDS41964.1																																																																																				0.520	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000414708.1			16	36						16	36	---	---	---	---
