#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
NDST3	9348	broad.mit.edu	37	4	118975475	118975475	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr4:118975475T>A	ENST00000296499.5	+	2	813	c.410T>A	c.(409-411)tTa>tAa	p.L137*	NDST3_ENST00000433996.2_Nonsense_Mutation_p.L137*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	137	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GAGAATATTTTAAAGTATATA	0.353																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(409-411)tTa>tAa		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							22.0	25.0	24.0					4																	118975475		2193	4287	6480	SO:0001587	stop_gained	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:118975475T>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.410T>A	4.37:g.118975475T>A	ENSP00000296499:p.Leu137*					NDST3_ENST00000433996.2_Nonsense_Mutation_p.L137*	p.L137*	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			2	813	+			137			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Nonsense_Mutation	SNP	ENST00000296499.5	37	c.410T>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	T	34	5.345398	0.95807	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	.	.	.	5.54	2.79	0.32731	.	0.249082	0.34802	N	0.003679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9213	0.41466	0.0:0.2142:0.0:0.7858	.	.	.	.	X	137	.	ENSP00000296499:L137X	L	+	2	0	NDST3	119194923	0.898000	0.30612	1.000000	0.80357	0.986000	0.74619	2.869000	0.48444	0.923000	0.37045	-0.256000	0.11100	TTA		0.353	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		3	39	0	0	0	1	0	3	39				
CIITA	4261	broad.mit.edu	37	16	11017093	11017093	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr16:11017093C>T	ENST00000324288.8	+	19	3459	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M	CIITA_ENST00000381835.5_Missense_Mutation_p.T525M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1109					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGATGTGGACGCCCACCATC	0.607			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(3325-3327)aCg>aTg		class II, major histocompatibility complex, transactivator							119.0	113.0	115.0					16																	11017093		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11017093C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3326C>T	16.37:g.11017093C>T	ENSP00000316328:p.Thr1109Met					CIITA_ENST00000381835.5_Missense_Mutation_p.T525M	p.T1109M	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			19	3459	+			1109					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.3326C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407241	0.62399	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.73047	-0.71;0.65	4.61	3.59	0.41128	.	0.168088	0.29133	N	0.013043	T	0.71854	0.3389	L	0.31476	0.935	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.69479	0.899;0.964;0.835	T	0.73238	-0.4046	10	0.72032	D	0.01	.	8.9943	0.36043	0.2372:0.7628:0.0:0.0	.	525;1109;1109	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	M	1109;525	ENSP00000316328:T1109M;ENSP00000371257:T525M	ENSP00000316328:T1109M	T	+	2	0	CIITA	10924594	0.897000	0.30589	0.992000	0.48379	0.886000	0.51366	1.562000	0.36353	2.373000	0.80994	0.655000	0.94253	ACG		0.607	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	114	0	0	0	1	0	8	114				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	81	0	0	0	1	0	4	81				
LTBP2	4053	broad.mit.edu	37	14	74967622	74967622	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr14:74967622C>T	ENST00000261978.4	-	36	5817	c.5431G>A	c.(5431-5433)Gag>Aag	p.E1811K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1767K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1811	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCCTGCCTCAGCCACATAT	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(5431-5433)Gag>Aag		latent transforming growth factor beta binding protein 2							44.0	43.0	43.0					14																	74967622		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74967622C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5431G>A	14.37:g.74967622C>T	ENSP00000261978:p.Glu1811Lys					LTBP2_ENST00000556690.1_Missense_Mutation_p.E1767K	p.E1811K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	36	5817	-			1811			EGF-like 20; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.5431G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437385	0.12104	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91521	-2.86;-2.86	5.4	2.29	0.28610	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.575265	0.14453	N	0.318673	T	0.68476	0.3005	N	0.01235	-0.94	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.58463	-0.7632	10	0.23891	T	0.37	.	0.7418	0.00975	0.1592:0.3481:0.1782:0.3145	.	1811	Q14767	LTBP2_HUMAN	K	1811;1767	ENSP00000261978:E1811K;ENSP00000451477:E1767K	ENSP00000261978:E1811K	E	-	1	0	LTBP2	74037375	0.029000	0.19370	0.341000	0.25589	0.380000	0.30137	1.348000	0.33987	0.770000	0.33336	0.655000	0.94253	GAG		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		6	46	0	0	0	1	0	6	46				
KIF16B	55614	broad.mit.edu	37	20	16354924	16354924	+	Silent	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:16354924G>A	ENST00000354981.2	-	20	3485	c.3328C>T	c.(3328-3330)Ctg>Ttg	p.L1110L	KIF16B_ENST00000378003.2_Silent_p.L336L|KIF16B_ENST00000355755.3_Silent_p.L1110L|KIF16B_ENST00000408042.1_Silent_p.L1110L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1110					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGGGAACCAGGTGTGATTTT	0.458																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3328-3330)Ctg>Ttg		kinesin family member 16B							109.0	94.0	99.0					20																	16354924		2203	4300	6503	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16354924G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3328C>T	20.37:g.16354924G>A						KIF16B_ENST00000378003.2_Silent_p.L336L|KIF16B_ENST00000355755.3_Silent_p.L1110L|KIF16B_ENST00000408042.1_Silent_p.L1110L	p.L1110L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			20	3485	-			1110					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3328C>T	CCDS13122.1																																																																																				0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		5	79	0	0	0	1	0	5	79				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	28	0	0	0	1	0	5	28				
WDR64	128025	broad.mit.edu	37	1	241904837	241904837	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:241904837G>A	ENST00000366552.2	+	11	1518	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	WDR64_ENST00000437684.2_Missense_Mutation_p.M437I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	437										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TTATGGACATGTATCCTTTGA	0.353																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1309-1311)atG>atA		WD repeat domain 64							131.0	120.0	124.0					1																	241904837		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241904837G>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1311G>A	1.37:g.241904837G>A	ENSP00000355510:p.Met437Ile					WDR64_ENST00000437684.2_Missense_Mutation_p.M437I	p.M437I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		11	1518	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	437					B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1311G>A		.	.	.	.	.	.	.	.	.	.	G	11.46	1.644576	0.29246	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.36520	1.52;1.25;1.37	5.49	5.49	0.81192	.	0.147918	0.48767	D	0.000172	T	0.17066	0.0410	N	0.08118	0	0.32320	N	0.562519	B	0.21225	0.053	B	0.20184	0.028	T	0.10753	-1.0616	10	0.02654	T	1	-24.9066	12.6117	0.56554	0.0:0.1666:0.8334:0.0	.	157	D1MPS4	.	I	437;437;208	ENSP00000355510:M437I;ENSP00000402446:M437I;ENSP00000406656:M208I	ENSP00000355510:M437I	M	+	3	0	WDR64	239971460	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.902000	0.48703	2.584000	0.87258	0.655000	0.94253	ATG		0.353	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		6	44	0	0	0	1	0	6	44				
HERC2P2	400322	broad.mit.edu	37	15	23300079	23300079	+	RNA	SNP	T	T	G	rs417713	byFrequency	TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr15:23300079T>G	ENST00000560464.1	-	0	4208									hect domain and RLD 2 pseudogene 2																		GTGCTGCACGTTGACAGGCGT	0.607																																						ENST00000560464.1																			0																																																			0							g.chr15:23300079T>G	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23300079T>G														0	4208	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.607	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	19	0	0	0	1	0	5	19				
OR6Q1	219952	broad.mit.edu	37	11	57798830	57798830	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:57798830T>G	ENST00000302622.3	+	1	429	c.406T>G	c.(406-408)Tat>Gat	p.Y136D	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCCTCTCCACTATGGGGCTTT	0.527																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(406-408)Tat>Gat		olfactory receptor, family 6, subfamily Q, member 1							138.0	127.0	131.0					11																	57798830		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798830T>G	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.406T>G	11.37:g.57798830T>G	ENSP00000307734:p.Tyr136Asp					OR9Q1_ENST00000335397.3_Intron	p.Y136D	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	429	+		Breast(21;0.0707)|all_epithelial(135;0.142)	136					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.406T>G	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069717	0.76301	.	.	ENSG00000172381	ENST00000302622	T	0.01947	4.54	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	N	0.003537	T	0.23926	0.0579	H	0.98446	4.235	0.43632	D	0.996026	D	0.89917	1.0	D	0.97110	1.0	T	0.44772	-0.9306	10	0.87932	D	0	.	13.7793	0.63073	0.0:0.0:0.0:1.0	.	136	Q8NGQ2	OR6Q1_HUMAN	D	136	ENSP00000307734:Y136D	ENSP00000307734:Y136D	Y	+	1	0	OR6Q1	57555406	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	7.565000	0.82337	1.897000	0.54924	0.523000	0.50628	TAT		0.527	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		6	61	0	0	0	1	0	6	61				
CPT1C	126129	broad.mit.edu	37	19	50212006	50212006	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr19:50212006G>C	ENST00000392518.4	+	14	1848	c.1476G>C	c.(1474-1476)caG>caC	p.Q492H	CPT1C_ENST00000323446.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q492H|CPT1C_ENST00000354199.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q481H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	492					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AATGCTTTCAGCTGGGCTACT	0.602																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1474-1476)caG>caC		carnitine palmitoyltransferase 1C							133.0	120.0	125.0					19																	50212006		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50212006G>C	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1476G>C	19.37:g.50212006G>C	ENSP00000376303:p.Gln492His					CPT1C_ENST00000354199.5_Missense_Mutation_p.Q492H|CPT1C_ENST00000598293.1_Missense_Mutation_p.Q492H|CPT1C_ENST00000405931.2_Missense_Mutation_p.Q481H|CPT1C_ENST00000323446.5_Missense_Mutation_p.Q492H	p.Q492H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	14	1848	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	492					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.1476G>C	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884123	0.17467	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	4.42	-0.594	0.11664	.	0.306670	0.23450	N	0.048041	T	0.74351	0.3705	N	0.20807	0.61	0.27710	N	0.945502	B;B;B;B	0.14438	0.003;0.01;0.0;0.0	B;B;B;B	0.18263	0.021;0.01;0.002;0.008	T	0.58148	-0.7687	10	0.21014	T	0.42	-10.8603	4.1122	0.10063	0.203:0.0:0.4772:0.3198	.	363;492;481;492	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	H	492;492;481;492;363	ENSP00000376303:Q492H;ENSP00000346138:Q492H;ENSP00000384465:Q481H;ENSP00000319343:Q492H	ENSP00000295404:Q363H	Q	+	3	2	CPT1C	54903818	0.999000	0.42202	0.998000	0.56505	0.976000	0.68499	0.720000	0.25896	0.115000	0.18071	0.456000	0.33151	CAG		0.602	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		4	89	0	0	0	1	0	4	89				
NUP43	348995	broad.mit.edu	37	6	150067084	150067084	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:150067084C>A	ENST00000340413.2	-	2	311	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	NUP43_ENST00000460354.2_Missense_Mutation_p.D79Y|NUP43_ENST00000367403.3_Missense_Mutation_p.D140Y|NUP43_ENST00000367404.4_Missense_Mutation_p.D79Y|NUP43_ENST00000463048.3_5'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	79					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACCTGTAAATCCATTACATCA	0.393																																						ENST00000340413.2																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(235-237)Gat>Tat		nucleoporin 43kDa							124.0	121.0	122.0					6																	150067084		2203	4300	6503	SO:0001583	missense	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067084C>A	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.235G>T	6.37:g.150067084C>A	ENSP00000342262:p.Asp79Tyr					NUP43_ENST00000367403.3_Missense_Mutation_p.D140Y|NUP43_ENST00000460354.2_Missense_Mutation_p.D79Y|NUP43_ENST00000463048.3_5'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.D79Y	p.D79Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	2	311	-		Ovarian(120;0.0164)	79					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.235G>T	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055218	0.93793	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.71934	-0.12;-0.12;-0.61;-0.61;-0.61	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83880	0.5350	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.978;0.982	D	0.83410	0.0027	10	0.59425	D	0.04	-26.8533	20.6647	0.99678	0.0:1.0:0.0:0.0	.	79;79	B4E2F0;Q8NFH3	.;NUP43_HUMAN	Y	79;79;140;79;86	ENSP00000342262:D79Y;ENSP00000432401:D79Y;ENSP00000356373:D140Y;ENSP00000356374:D79Y;ENSP00000438031:D86Y	ENSP00000342262:D79Y	D	-	1	0	NUP43	150108777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.890000	0.99128	0.655000	0.94253	GAT		0.393	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		7	87	1	0	8.12818e-05	1	8.61588e-05	7	87				
TAF1L	138474	broad.mit.edu	37	9	32631138	32631138	+	Silent	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr9:32631138C>T	ENST00000242310.4	-	1	4529	c.4440G>A	c.(4438-4440)ggG>ggA	p.G1480G	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1480	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATGTTTTGGCCCATTGTAGG	0.418																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4438-4440)ggG>ggA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							191.0	174.0	180.0					9																	32631138		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631138C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4440G>A	9.37:g.32631138C>T							p.G1480G	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4529	-			1480			Bromo 1.		Q0VG57	Silent	SNP	ENST00000242310.4	37	c.4440G>A	CCDS35003.1																																																																																				0.418	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	174	0	0	0	1	0	4	174				
HERC2P2	400322	broad.mit.edu	37	15	23300033	23300033	+	RNA	SNP	T	T	C	rs1058831	byFrequency	TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr15:23300033T>C	ENST00000560464.1	-	0	4254									hect domain and RLD 2 pseudogene 2																		CGGGAACGGGTGACTGCTTGC	0.592													C|||	1690	0.33746	0.4826	0.3069	5008	,	,		22469	0.3135		0.2286	False		,,,				2504	0.2996					ENST00000560464.1																			0																																																			0							g.chr15:23300033T>C	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23300033T>C														0	4254	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.592	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	20	0	0	0	1	0	4	20				
ATP2A1	487	broad.mit.edu	37	16	28900176	28900176	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr16:28900176G>T	ENST00000357084.3	+	9	1264	c.997G>T	c.(997-999)Gta>Tta	p.V333L	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V333L|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V208L	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	333					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GAATGCCATTGTAAGAAGCTT	0.587																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(997-999)Gta>Tta		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							192.0	166.0	175.0					16																	28900176		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900176G>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.997G>T	16.37:g.28900176G>T	ENSP00000349595:p.Val333Leu					ATP2A1_ENST00000536376.1_Missense_Mutation_p.V208L|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V333L	p.V333L	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1181	+			333					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.997G>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575677	0.86645	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.93307	-3.2;-3.2;-3.17	5.42	5.42	0.78866	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95655	0.8587	M	0.89785	3.06	0.80722	D	1	B;B;B	0.26147	0.143;0.075;0.061	B;B;B	0.36959	0.237;0.237;0.152	D	0.94888	0.8045	10	0.87932	D	0	.	17.984	0.89151	0.0:0.0:1.0:0.0	.	208;333;333	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	L	333;333;370;208	ENSP00000349595:V333L;ENSP00000378879:V333L;ENSP00000443101:V208L	ENSP00000349595:V333L	V	+	1	0	ATP2A1	28807677	1.000000	0.71417	0.977000	0.42913	0.567000	0.35839	9.838000	0.99474	2.538000	0.85594	0.467000	0.42956	GTA		0.587	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		14	104	1	0	1.5842e-08	1	1.78644e-08	14	104				
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	byFrequency	TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378																																						ENST00000478176.1																			1	Substitution - coding silent(1)	p.F40F(1)	kidney(1)																	41.0	30.0	33.0					20																	26084296		692	1590	2282			0							g.chr20:26084296A>G	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084296A>G								NR_003678.1						0	161	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.378	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	56	0	0	0	1	0	3	56				
HIC1	3090	broad.mit.edu	37	17	1960006	1960006	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:1960006C>T	ENST00000322941.3	+	2	79	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	HIC1_ENST00000399849.3_Missense_Mutation_p.P8S	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	27					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GATGGAGGCGCCCGGCCACTC	0.687																																						ENST00000399849.2																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(22-24)Ccc>Tcc		hypermethylated in cancer 1							9.0	11.0	11.0					17																	1960006		2066	4191	6257	SO:0001583	missense	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1960006C>T		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.79C>T	17.37:g.1960006C>T	ENSP00000314080:p.Pro27Ser					HIC1_ENST00000322941.3_Missense_Mutation_p.P27S	p.P8S	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	182	+			27					D3DTI4	Missense_Mutation	SNP	ENST00000322941.3	37	c.22C>T	CCDS42229.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.902916	0.72754	.	.	ENSG00000177374	ENST00000399849;ENST00000322941	T;T	0.21932	1.98;1.98	4.37	4.37	0.52481	BTB/POZ fold (2);	.	.	.	.	T	0.31734	0.0806	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.22208	-1.0223	9	0.87932	D	0	.	15.6383	0.76973	0.0:1.0:0.0:0.0	.	27	Q14526	HIC1_HUMAN	S	8;27	ENSP00000382742:P8S;ENSP00000314080:P27S	ENSP00000314080:P27S	P	+	1	0	HIC1	1906756	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.346000	0.79347	2.267000	0.75376	0.555000	0.69702	CCC		0.687	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		4	19	0	0	0	1	0	4	19				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	94	0	0	0	1	0	4	94				
OR2A2	442361	broad.mit.edu	37	7	143806760	143806760	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr7:143806760C>T	ENST00000408979.2	+	1	154	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTCTGTGGACTCTTCTCTGT	0.517																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(85-87)Ctc>Ttc		olfactory receptor, family 2, subfamily A, member 2							157.0	152.0	154.0					7																	143806760		1997	4192	6189	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806760C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.85C>T	7.37:g.143806760C>T	ENSP00000386209:p.Leu29Phe						p.L29F	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	154	+	Melanoma(164;0.0783)		29					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.85C>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924734	0.18056	.	.	ENSG00000221989	ENST00000408979	T	0.17213	2.29	3.61	-3.04	0.05412	.	1.063240	0.07613	N	0.925712	T	0.13713	0.0332	L	0.45137	1.4	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.35599	-0.9782	10	0.41790	T	0.15	-5.8423	7.335	0.26605	0.4221:0.302:0.276:0.0	.	29	Q6IF42	OR2A2_HUMAN	F	29	ENSP00000386209:L29F	ENSP00000386209:L29F	L	+	1	0	OR2A2	143437693	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-11.423000	0.00003	-0.828000	0.04273	-0.233000	0.12211	CTC		0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			4	72	0	0	0	1	0	4	72				
KRT27	342574	broad.mit.edu	37	17	38935974	38935974	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:38935974G>A	ENST00000301656.3	-	4	864	c.824C>T	c.(823-825)gCg>gTg	p.A275V	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCAGGCCTCCGCGTCCCTGCG	0.652																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(823-825)gCg>gTg		keratin 27							37.0	36.0	36.0					17																	38935974		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935974G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.824C>T	17.37:g.38935974G>A	ENSP00000301656:p.Ala275Val						p.A275V	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			4	864	-		Breast(137;0.000812)	275			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.824C>T	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995752	0.54147	.	.	ENSG00000171446	ENST00000301656	D	0.89875	-2.58	5.51	4.54	0.55810	Filament (1);	0.101398	0.43747	N	0.000523	D	0.85873	0.5798	L	0.42008	1.315	0.09310	N	0.999999	P	0.50443	0.935	P	0.48425	0.577	T	0.76222	-0.3038	10	0.19590	T	0.45	.	10.2687	0.43470	0.1686:0.0:0.8314:0.0	.	275	Q7Z3Y8	K1C27_HUMAN	V	275	ENSP00000301656:A275V	ENSP00000301656:A275V	A	-	2	0	KRT27	36189500	0.043000	0.20138	0.621000	0.29145	0.882000	0.50991	1.391000	0.34475	1.465000	0.48006	0.585000	0.79938	GCG		0.652	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		4	29	0	0	0	1	0	4	29				
UTS2	10911	broad.mit.edu	37	1	7910967	7910967	+	Missense_Mutation	SNP	G	G	A	rs201000488		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:7910967G>A	ENST00000361696.5	-	2	150	c.119C>T	c.(118-120)gCg>gTg	p.A40V	UTS2_ENST00000377516.2_Missense_Mutation_p.A40V|UTS2_ENST00000054668.5_Missense_Mutation_p.A55V	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2	40					muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		AGTTAAGCGCGCGTCTTCATG	0.463																																						ENST00000377516.2																			0				kidney(1)|lung(4)|urinary_tract(1)	6						c.(118-120)gCg>gTg		urotensin 2							89.0	89.0	89.0					1																	7910967		2203	4300	6503	SO:0001583	missense	10911				muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity	g.chr1:7910967G>A	AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"""Endogenous ligands"""	12636	protein-coding gene	gene with protein product	"""prepro U-II"""	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218	ENST00000361696.5:c.119C>T	1.37:g.7910967G>A	ENSP00000355163:p.Ala40Val					UTS2_ENST00000054668.5_Missense_Mutation_p.A55V|UTS2_ENST00000361696.5_Missense_Mutation_p.A40V	p.A40V			O95399	UTS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)	3	439	-	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	40					Q5H8X7|Q6UXF6|Q9UKP7	Missense_Mutation	SNP	ENST00000361696.5	37	c.119C>T	CCDS91.1	.	.	.	.	.	.	.	.	.	.	G	9.444	1.088827	0.20390	.	.	ENSG00000049247	ENST00000377516;ENST00000400910;ENST00000361696;ENST00000054668	T;T;T	0.34072	1.38;1.43;1.39	5.16	3.26	0.37387	.	0.693436	0.14616	N	0.308730	T	0.16041	0.0386	N	0.04297	-0.235	0.09310	N	1	B;B;B	0.26902	0.095;0.033;0.163	B;B;B	0.20384	0.02;0.009;0.029	T	0.19160	-1.0314	10	0.27082	T	0.32	-0.8104	8.6393	0.33968	0.1831:0.0:0.8169:0.0	.	55;40;40	O95399-2;O95399;Q5H8X8	.;UTS2_HUMAN;.	V	40;40;40;55	ENSP00000366738:A40V;ENSP00000355163:A40V;ENSP00000054668:A55V	ENSP00000054668:A55V	A	-	2	0	UTS2	7833554	0.033000	0.19621	0.000000	0.03702	0.000000	0.00434	2.558000	0.45879	0.639000	0.30564	-0.143000	0.13931	GCG		0.463	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003612.1	NM_006786		4	62	0	0	0	1	0	4	62				
PHYHIPL	84457	broad.mit.edu	37	10	60996414	60996414	+	Missense_Mutation	SNP	G	G	A	rs530007000		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr10:60996414G>A	ENST00000373880.4	+	3	739	c.475G>A	c.(475-477)Gca>Aca	p.A159T	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.A133T|PHYHIPL_ENST00000472199.1_3'UTR	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	159	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						ATTCTGCACCGCAGGTAAGAG	0.328													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17885	0.0		0.0	False		,,,				2504	0.0					ENST00000373880.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						c.(475-477)Gca>Aca		phytanoyl-CoA 2-hydroxylase interacting protein-like							70.0	71.0	71.0					10																	60996414		2203	4299	6502	SO:0001583	missense	84457							g.chr10:60996414G>A	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.475G>A	10.37:g.60996414G>A	ENSP00000362987:p.Ala159Thr					PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Missense_Mutation_p.A133T	p.A159T	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN			3	739	+			159					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	ENST00000373880.4	37	c.475G>A	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514593	0.85389	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	D;D	0.85629	-2.01;-2.01	5.89	5.89	0.94794	Immunoglobulin-like fold (1);	0.160665	0.42821	D	0.000656	D	0.89801	0.6820	M	0.74258	2.255	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.51135	0.66;0.539	D	0.90493	0.4468	10	0.87932	D	0	-7.1566	20.2361	0.98357	0.0:0.0:1.0:0.0	.	133;159	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	T	159;133	ENSP00000362987:A159T;ENSP00000362985:A133T	ENSP00000362985:A133T	A	+	1	0	PHYHIPL	60666420	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	9.837000	0.99465	2.791000	0.96007	0.591000	0.81541	GCA		0.328	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		4	32	0	0	0	1	0	4	32				
THSD7B	80731	broad.mit.edu	37	2	137814077	137814077	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr2:137814077G>T	ENST00000409968.1	+	3	405	c.227G>T	c.(226-228)aGt>aTt	p.S76I	THSD7B_ENST00000413152.2_Missense_Mutation_p.S45I|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000272643.3_Missense_Mutation_p.S76I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	76	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGGTGGACAAGTCACCTGTCT	0.532																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(226-228)aGt>aTt		thrombospondin, type I, domain containing 7B							83.0	90.0	87.0					2																	137814077		2025	4198	6223	SO:0001583	missense	80731							g.chr2:137814077G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.227G>T	2.37:g.137814077G>T	ENSP00000387145:p.Ser76Ile					THSD7B_ENST00000413152.2_Missense_Mutation_p.S45I|THSD7B_ENST00000272643.3_Missense_Mutation_p.S76I	p.S76I						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	405	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.227G>T		.	.	.	.	.	.	.	.	.	.	G	16.85	3.235349	0.58886	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60171	0.21;0.21;0.21	5.89	5.89	0.94794	.	0.170423	0.64402	D	0.000008	T	0.56277	0.1974	L	0.31476	0.935	0.80722	D	1	P	0.40619	0.724	P	0.49528	0.614	T	0.50717	-0.8795	10	0.30854	T	0.27	.	14.4236	0.67200	0.0:0.2565:0.7435:0.0	.	45	C9JKN6	.	I	76;76;45	ENSP00000387145:S76I;ENSP00000272643:S76I;ENSP00000413841:S45I	ENSP00000272643:S76I	S	+	2	0	THSD7B	137530547	1.000000	0.71417	0.734000	0.30879	0.989000	0.77384	4.721000	0.61951	2.788000	0.95919	0.585000	0.79938	AGT		0.532	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		11	25	1	0	0.000673444	1	0.000699854	11	25				
OR10G8	219869	broad.mit.edu	37	11	123900679	123900679	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:123900679T>A	ENST00000431524.1	+	1	383	c.350T>A	c.(349-351)aTg>aAg	p.M117K		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TACAGGGTCATGTCCTGTGAT	0.557																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(349-351)aTg>aAg		olfactory receptor, family 10, subfamily G, member 8							152.0	143.0	146.0					11																	123900679		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900679T>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.350T>A	11.37:g.123900679T>A	ENSP00000389072:p.Met117Lys						p.M117K	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	383	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	117					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.350T>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319794	0.60524	.	.	ENSG00000234560	ENST00000431524	T	0.47869	0.83	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.78786	0.4338	H	0.98883	4.36	0.46478	D	0.999064	D	0.71674	0.998	D	0.81914	0.995	D	0.84695	0.0725	10	0.87932	D	0	.	10.5975	0.45347	0.0:0.0:0.0:1.0	.	117	Q8NGN5	O10G8_HUMAN	K	117	ENSP00000389072:M117K	ENSP00000389072:M117K	M	+	2	0	OR10G8	123405889	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	4.253000	0.58791	1.377000	0.46286	0.528000	0.53228	ATG		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		11	107	0	0	0	1	0	11	107				
PRSS58	136541	broad.mit.edu	37	7	141955354	141955354	+	Splice_Site	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr7:141955354C>T	ENST00000552471.1	-	2	499		c.e2+1		PRSS58_ENST00000547058.2_Splice_Site			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TTATCACTCACGGTAAATTGC	0.502																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.e2+1		protease, serine, 58							74.0	74.0	74.0					7																	141955354		2203	4300	6503	SO:0001630	splice_region_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955354C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.179+1G>A	7.37:g.141955354C>T						PRSS58_ENST00000547058.2_Splice_Site				Q8IYP2	PRS58_HUMAN			2	499	-								B3KVJ6|D3DXD2	Splice_Site	SNP	ENST00000552471.1	37		CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856601	0.71834	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2693	0.82607	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRSS58	141601831	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.803000	0.62546	2.711000	0.92665	0.655000	0.94253	.		0.502	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	Intron	9	42	0	0	0	1	0	9	42				
PCDH11Y	83259	broad.mit.edu	37	Y	4967265	4967265	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chrY:4967265G>A	ENST00000333703.4	+	5	2126	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCTGGATCGTCGTACAGGC	0.438																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1612-1614)cGt>cAt		protocadherin 11 Y-linked							42.0	39.0	40.0					Y																	4967265		617	1971	2588	SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967265G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1613G>A	Y.37:g.4967265G>A	ENSP00000330552:p.Arg538His					PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R549H|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R549H	p.R538H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2126	+			549			Cadherin 5.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1613G>A	CCDS14776.1																																																																																				0.438	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		14	11	0	0	0	1	0	14	11				
SLC12A5	57468	broad.mit.edu	37	20	44673702	44673702	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:44673702G>T	ENST00000454036.2	+	12	1610	c.1561G>T	c.(1561-1563)Gct>Tct	p.A521S	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A498S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	521					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACCTGTGGGGCTGGGCTGCA	0.617																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1561-1563)Gct>Tct		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						115.0	114.0	114.0					20																	44673702		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44673702G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1561G>T	20.37:g.44673702G>T	ENSP00000387694:p.Ala521Ser					SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.A498S	p.A521S	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			12	1637	+		Myeloproliferative disorder(115;0.0122)	521					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1561G>T	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557864	0.86231	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98732	-5.1;-5.1	4.32	3.36	0.38483	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	L	0.37697	1.125	0.80722	D	1	P;P	0.44044	0.825;0.622	P;B	0.50934	0.654;0.329	D	0.95316	0.8416	10	0.22109	T	0.4	.	12.3679	0.55238	0.0:0.0:0.8302:0.1698	.	521;498	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	S	521;498	ENSP00000387694:A521S;ENSP00000243964:A498S	ENSP00000243964:A498S	A	+	1	0	SLC12A5	44107109	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.257000	0.95545	1.012000	0.39366	0.313000	0.20887	GCT		0.617	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			5	99	1	0	0.217242	1	0.217242	5	99				
SDE2	163859	broad.mit.edu	37	1	226182980	226182980	+	Silent	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:226182980G>A	ENST00000272091.7	-	2	243	c.225C>T	c.(223-225)tgC>tgT	p.C75C		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	75																	CTTTTCCACCGCAAAGTCTGG	0.403																																						ENST00000366817.1																			0											c.(70-72)gCg>gTg		SDE2 telomere maintenance homolog (S. pombe)							171.0	158.0	162.0					1																	226182980		1912	4138	6050	SO:0001819	synonymous_variant	163859							g.chr1:226182980G>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.225C>T	1.37:g.226182980G>A						SDE2_ENST00000272091.7_Silent_p.C75C	p.A24V							2	234	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.71C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	4.850	0.158025	0.09236	.	.	ENSG00000143751	ENST00000366817	T	0.50001	0.76	6.01	-3.78	0.04333	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.51764	-0.8664	6	0.87932	D	0	8.1452	8.7088	0.34371	0.4262:0.0:0.4662:0.1076	.	.	.	.	V	24	ENSP00000355782:A24V	ENSP00000355782:A24V	A	-	2	0	C1orf55	224249603	0.001000	0.12720	0.004000	0.12327	0.073000	0.16967	-0.044000	0.12023	-1.012000	0.03387	-1.287000	0.01368	GCG		0.403	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		4	87	0	0	0	1	0	4	87				
MASP1	5648	broad.mit.edu	37	3	186978566	186978566	+	Silent	SNP	G	G	A	rs553549384	byFrequency	TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr3:186978566G>A	ENST00000337774.5	-	4	899	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000169293.6_Silent_p.F170F|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	170	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGATGTAGCCGAAGCGGCAGG	0.527													G|||	5	0.000998403	0.0	0.0	5008	,	,		18092	0.0		0.0	False		,,,				2504	0.0051					ENST00000337774.5																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(508-510)ttC>ttT		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)							148.0	109.0	123.0					3																	186978566		2203	4300	6503	SO:0001819	synonymous_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186978566G>A	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.510C>T	3.37:g.186978566G>A						MASP1_ENST00000392472.2_Silent_p.F57F|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.F144F|MASP1_ENST00000296280.6_Silent_p.F170F|MASP1_ENST00000169293.6_Silent_p.F170F	p.F170F	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	4	899	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		170			EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	ENST00000337774.5	37	c.510C>T	CCDS33907.1																																																																																				0.527	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		3	48	0	0	0	1	0	3	48				
SNX2	6643	broad.mit.edu	37	5	122161782	122161782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr5:122161782G>A	ENST00000379516.2	+	12	1358	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Nonsense_Mutation_p.W300*	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	417					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGGCAGAAATGGGAAGATGCT	0.328																																						ENST00000379516.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19						c.(1249-1251)tGg>tAg		sorting nexin 2							94.0	90.0	91.0					5																	122161782		2203	4300	6503	SO:0001587	stop_gained	6643				cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr5:122161782G>A	AF043453	CCDS34217.1, CCDS64234.1	5q23.2	2011-05-03			ENSG00000205302	ENSG00000205302		"""Sorting nexins"""	11173	protein-coding gene	gene with protein product		605929				9819414	Standard	NM_003100		Approved		uc003kte.4	O60749	OTTHUMG00000163020	ENST00000379516.2:c.1250G>A	5.37:g.122161782G>A	ENSP00000368831:p.Trp417*					SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Nonsense_Mutation_p.W300*	p.W417*	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)	12	1358	+		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	417					B3KN44|B4DEK4|B7Z408|O43650|P82862|Q53XK8|Q597H6|Q9BTS8	Nonsense_Mutation	SNP	ENST00000379516.2	37	c.1250G>A	CCDS34217.1	.	.	.	.	.	.	.	.	.	.	G	37	6.170456	0.97343	.	.	ENSG00000205302	ENST00000379516;ENST00000514949	.	.	.	5.93	5.06	0.68205	.	0.056550	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1443	15.2238	0.73333	0.0674:0.0:0.9326:0.0	.	.	.	.	X	417;300	.	ENSP00000368831:W417X	W	+	2	0	SNX2	122189681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.716000	0.84723	1.513000	0.48852	0.655000	0.94253	TGG		0.328	SNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371392.1	NM_003100		5	50	0	0	0	1	0	5	50				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	83	0	0	0	1	0	5	83				
DDX27	55661	broad.mit.edu	37	20	47850217	47850217	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:47850217G>A	ENST00000371764.4	+	11	1346	c.1337G>A	c.(1336-1338)cGt>cAt	p.R446H	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	446						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGCCTAATCGTGAAGGAGAC	0.572																																						ENST00000371764.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1336-1338)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							72.0	71.0	71.0					20																	47850217		2203	4300	6503	SO:0001583	missense	55661					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr20:47850217G>A	AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1337G>A	20.37:g.47850217G>A	ENSP00000360828:p.Arg446His					DDX27_ENST00000484427.1_3'UTR	p.R446H	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	1346	+			446					A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	ENST00000371764.4	37	c.1337G>A	CCDS13416.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735717	0.69189	.	.	ENSG00000124228	ENST00000371764	T	0.01584	4.75	5.97	5.97	0.96955	.	0.098803	0.64402	D	0.000002	T	0.03390	0.0098	L	0.44542	1.39	0.51482	D	0.999923	P	0.45986	0.87	B	0.43052	0.406	T	0.53012	-0.8498	10	0.56958	D	0.05	-22.1339	17.9218	0.88969	0.0:0.0:1.0:0.0	.	446	Q96GQ7	DDX27_HUMAN	H	446	ENSP00000360828:R446H	ENSP00000360828:R446H	R	+	2	0	DDX27	47283624	1.000000	0.71417	0.998000	0.56505	0.391000	0.30476	6.491000	0.73649	2.837000	0.97791	0.655000	0.94253	CGT		0.572	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080485.1			4	62	0	0	0	1	0	4	62				
NAPRT	93100	broad.mit.edu	37	8	144658675	144658675	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr8:144658675C>T	ENST00000449291.2	-	7	1243	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	NAPRT1_ENST00000426292.3_Missense_Mutation_p.V317M|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V317M|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V317M|RP11-661A12.9_ENST00000531730.1_RNA																endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCAGCCTCACGCCCACTGCC	0.627																																						ENST00000449291.2																			0				endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(949-951)Gtg>Atg		nicotinate phosphoribosyltransferase domain containing 1							33.0	33.0	33.0					8																	144658675		2198	4298	6496	SO:0001583	missense	93100				nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity	g.chr8:144658675C>T																												ENST00000449291.2:c.949G>A	8.37:g.144658675C>T	ENSP00000401508:p.Val317Met					RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Missense_Mutation_p.V317M|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V317M|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V317M	p.V317M			Q6XQN6	PNCB_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1243	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		317						Missense_Mutation	SNP	ENST00000449291.2	37	c.949G>A	CCDS6403.2	.	.	.	.	.	.	.	.	.	.	C	17.57	3.423498	0.62733	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.61392	0.17;0.14;0.11;0.16;0.14	4.32	1.24	0.21308	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.312973	0.29715	N	0.011381	T	0.73984	0.3657	M	0.91510	3.215	0.34851	D	0.741658	D;P;D;D	0.67145	0.981;0.937;0.995;0.996	P;P;P;D	0.65773	0.822;0.572;0.897;0.938	T	0.76143	-0.3067	10	0.66056	D	0.02	-12.1517	5.4266	0.16429	0.345:0.5552:0.0:0.0998	.	317;317;317;317	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	M	317	ENSP00000405670:V317M;ENSP00000401508:V317M;ENSP00000341136:V317M;ENSP00000390949:V317M;ENSP00000276844:V317M	ENSP00000276844:V317M	V	-	1	0	NAPRT1	144729818	0.379000	0.25123	0.135000	0.22099	0.876000	0.50452	0.947000	0.29082	0.031000	0.15407	0.643000	0.83706	GTG		0.627	NAPRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346708.3			5	10	0	0	0	1	0	5	10				
DEFB129	140881	broad.mit.edu	37	20	210386	210386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr20:210386G>T	ENST00000246105.4	+	2	557	c.526G>T	c.(526-528)Gag>Tag	p.E176*		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	176					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACCATCACTGGAGCTAGAGGA	0.443																																						ENST00000246105.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9						c.(526-528)Gag>Tag		defensin, beta 129							87.0	80.0	82.0					20																	210386		2203	4300	6503	SO:0001587	stop_gained	140881				defense response to bacterium	extracellular region		g.chr20:210386G>T	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.526G>T	20.37:g.210386G>T	ENSP00000246105:p.Glu176*						p.E176*	NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	557	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	176					Q8NES7	Nonsense_Mutation	SNP	ENST00000246105.4	37	c.526G>T	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098522	0.37048	.	.	ENSG00000125903	ENST00000246105	.	.	.	4.29	1.08	0.20341	.	1.348300	0.05512	N	0.560470	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.8572	4.0026	0.09587	0.2333:0.194:0.5727:0.0	.	.	.	.	X	176	.	ENSP00000246105:E176X	E	+	1	0	DEFB129	158386	0.001000	0.12720	0.001000	0.08648	0.071000	0.16799	0.346000	0.19997	0.278000	0.22164	0.563000	0.77884	GAG		0.443	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		5	29	1	0	2.0095e-06	1	2.17354e-06	5	29				
RAB11FIP4	84440	broad.mit.edu	37	17	29850576	29850576	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:29850576G>A	ENST00000325874.8	+	8	1205	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.E224K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	326	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGGCAGCACCGAAGACCTGTT	0.607																																						ENST00000325874.8																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(976-978)Gaa>Aaa		RAB11 family interacting protein 4 (class II)							162.0	148.0	153.0					17																	29850576		2203	4300	6503	SO:0001583	missense	84440				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr17:29850576G>A	AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.976G>A	17.37:g.29850576G>A	ENSP00000312837:p.Glu326Lys					RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.E224K	p.E326K	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN			8	1205	+		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)	326			Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	ENST00000325874.8	37	c.976G>A	CCDS11267.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579595	0.96565	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.65987	0.915;0.94	T	0.77101	-0.2712	8	.	.	.	-31.7962	15.5137	0.75806	0.0:0.0:1.0:0.0	.	224;326	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	K	326	.	.	E	+	1	0	RAB11FIP4	26874696	1.000000	0.71417	0.966000	0.40874	0.972000	0.66771	9.240000	0.95396	2.745000	0.94114	0.484000	0.47621	GAA		0.607	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932		4	57	0	0	0	1	0	4	57				
PYGL	5836	broad.mit.edu	37	14	51375588	51375588	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr14:51375588G>T	ENST00000216392.7	-	18	2595	c.2263C>A	c.(2263-2265)Cag>Aag	p.Q755K	PYGL_ENST00000532462.1_Missense_Mutation_p.Q755K|PYGL_ENST00000544180.2_Missense_Mutation_p.Q721K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	755					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AGGTCAGGCTGCTTGGGAGAA	0.438																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2263-2265)Cag>Aag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						171.0	175.0	174.0					14																	51375588		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51375588G>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2263C>A	14.37:g.51375588G>T	ENSP00000216392:p.Gln755Lys					PYGL_ENST00000544180.2_Missense_Mutation_p.Q721K|PYGL_ENST00000532462.1_Missense_Mutation_p.Q755K	p.Q755K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			18	2595	-	all_epithelial(31;0.00825)|Breast(41;0.148)		755					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2263C>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602939	0.46423	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.92805	-3.11;-3.11;-3.11	5.73	5.73	0.89815	.	0.206703	0.51477	D	0.000091	D	0.86372	0.5917	L	0.31420	0.93	0.37289	D	0.908182	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.12837	0.003;0.008;0.001	T	0.83283	-0.0037	10	0.54805	T	0.06	-19.9596	9.9839	0.41830	0.0:0.1478:0.6991:0.153	.	721;721;755	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	K	755;721;755	ENSP00000431657:Q755K;ENSP00000443787:Q721K;ENSP00000216392:Q755K	ENSP00000216392:Q755K	Q	-	1	0	PYGL	50445338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.164000	0.58190	2.709000	0.92574	0.655000	0.94253	CAG		0.438	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		4	103	1	0	0.150653	1	0.153551	4	103				
NCR3	259197	broad.mit.edu	37	6	31557641	31557641	+	Silent	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:31557641G>A	ENST00000340027.5	-	2	569	c.306C>T	c.(304-306)gaC>gaT	p.D102D	NCR3_ENST00000376073.4_Silent_p.D102D|NCR3_ENST00000376071.4_Silent_p.D77D|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376072.3_Silent_p.D102D	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	102	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)		p.D102E(1)		cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						AGATGCTGGCGTCATGGCCTC	0.632																																						ENST00000376073.4																			1	Substitution - Missense(1)	p.D102E(1)	ovary(1)	cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						c.(304-306)gaC>gaT		natural cytotoxicity triggering receptor 3							141.0	126.0	131.0					6																	31557641		1511	2709	4220	SO:0001819	synonymous_variant	259197				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31557641G>A	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.306C>T	6.37:g.31557641G>A						NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000340027.5_Silent_p.D102D|NCR3_ENST00000376071.4_Silent_p.D77D|NCR3_ENST00000376072.3_Silent_p.D102D	p.D102D	NM_001145466.1	NP_001138938.1	O14931	NCTR3_HUMAN			2	569	-			102			Ig-like.		B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Silent	SNP	ENST00000340027.5	37	c.306C>T	CCDS34397.1																																																																																				0.632	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			4	57	0	0	0	1	0	4	57				
HOXB4	3214	broad.mit.edu	37	17	46655387	46655387	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr17:46655387C>T	ENST00000332503.5	-	1	2086	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000485909.2_5'Flank	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	99	Pro-rich (part of the transcriptional activation domain).				anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGGGCCCCGGCGGGTGGCGGC	0.836																																						ENST00000332503.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						c.(295-297)Gcc>Acc		homeobox B4							3.0	4.0	4.0					17																	46655387		1139	2535	3674	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46655387C>T		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.295G>A	17.37:g.46655387C>T	ENSP00000328928:p.Ala99Thr					HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron	p.A99T	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN			1	2086	-			99			Pro-rich (part of the transcriptional activation domain).		Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.295G>A	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	4.687	0.127662	0.08981	.	.	ENSG00000182742	ENST00000332503	T	0.42513	0.97	3.23	-0.831	0.10789	.	1.235630	0.06291	N	0.699200	T	0.24160	0.0585	N	0.21142	0.635	0.21762	N	0.99955	B	0.29590	0.25	B	0.09377	0.004	T	0.13953	-1.0490	10	0.11485	T	0.65	.	10.0192	0.42033	0.5351:0.4649:0.0:0.0	.	99	P17483	HXB4_HUMAN	T	99	ENSP00000328928:A99T	ENSP00000328928:A99T	A	-	1	0	HOXB4	44010386	0.007000	0.16637	0.649000	0.29536	0.489000	0.33432	-0.114000	0.10757	-0.127000	0.11661	0.313000	0.20887	GCC		0.836	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2			2	1	0	0	0	1	0	2	1				
FILIP1	27145	broad.mit.edu	37	6	76022259	76022259	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:76022259C>T	ENST00000237172.7	-	5	3619	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	FILIP1_ENST00000393004.2_Missense_Mutation_p.V1097M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.V998M	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1097										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCGGCTGTCACGTTTACTGGT	0.512																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3289-3291)Gtg>Atg		filamin A interacting protein 1							210.0	160.0	177.0					6																	76022259		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022259C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3289G>A	6.37:g.76022259C>T	ENSP00000237172:p.Val1097Met					FILIP1_ENST00000370020.1_Missense_Mutation_p.V998M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.V1097M	p.V1097M			Q7Z7B0	FLIP1_HUMAN			5	3510	-			1097					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3289G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	6.602	0.479511	0.12581	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18657	2.2;2.2;2.2	5.63	1.94	0.25998	.	0.697424	0.14833	N	0.295777	T	0.03564	0.0102	N	0.22421	0.69	0.09310	N	1	B;P;P	0.50272	0.003;0.787;0.933	B;B;B	0.35727	0.002;0.075;0.209	T	0.30504	-0.9976	10	0.49607	T	0.09	-8.1404	5.8776	0.18838	0.0:0.5182:0.1264:0.3554	.	1097;1097;1097	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	M	1097;1097;998	ENSP00000376728:V1097M;ENSP00000237172:V1097M;ENSP00000359037:V998M	ENSP00000237172:V1097M	V	-	1	0	FILIP1	76078979	0.029000	0.19370	0.727000	0.30756	0.246000	0.25737	0.881000	0.28173	0.076000	0.16826	-0.127000	0.14921	GTG		0.512	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		5	99	0	0	0	1	0	5	99				
C3	718	broad.mit.edu	37	19	6718310	6718310	+	Silent	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr19:6718310G>A	ENST00000245907.6	-	3	473	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	127					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGAGGTACCCGCTCTGCAGGC	0.647																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(379-381)agC>agT		complement component 3							94.0	78.0	83.0					19																	6718310		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718310G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.381C>T	19.37:g.6718310G>A							p.S127S	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	473	-			127					A7E236	Silent	SNP	ENST00000245907.6	37	c.381C>T	CCDS32883.1																																																																																				0.647	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	22	0	0	0	1	0	4	22				
EDC4	23644	broad.mit.edu	37	16	67914636	67914636	+	Silent	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr16:67914636C>T	ENST00000358933.5	+	18	2513	c.2274C>T	c.(2272-2274)tcC>tcT	p.S758S	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	758					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GTTTTGGCTCCTCTGCACCAG	0.662																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(2272-2274)tcC>tcT		enhancer of mRNA decapping 4							155.0	147.0	150.0					16																	67914636		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67914636C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2274C>T	16.37:g.67914636C>T							p.S758S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	18	2513	+		Ovarian(137;0.0563)	758					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.2274C>T	CCDS10849.1																																																																																				0.662	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		10	134	0	0	0	1	0	10	134				
POLG	5428	broad.mit.edu	37	15	89860013	89860013	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr15:89860013G>A	ENST00000268124.5	-	23	4022	c.3689C>T	c.(3688-3690)tCc>tTc	p.S1230F	FANCI_ENST00000300027.8_3'UTR|POLG_ENST00000442287.2_Missense_Mutation_p.S1230F|FANCI_ENST00000310775.7_3'UTR	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1230					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTTTTCCAAGGAGCCTTTGGT	0.507								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(3688-3690)tCc>tTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							109.0	101.0	104.0					15																	89860013		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89860013G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3689C>T	15.37:g.89860013G>A	ENSP00000268124:p.Ser1230Phe					FANCI_ENST00000300027.8_3'UTR|POLG_ENST00000442287.2_Missense_Mutation_p.S1230F|FANCI_ENST00000310775.7_3'UTR	p.S1230F	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		23	4022	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		1230					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.3689C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884752	0.91814	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96685	-4.09;-4.09	5.95	5.95	0.96441	.	0.107271	0.64402	D	0.000003	D	0.96433	0.8836	L	0.55481	1.735	0.58432	D	0.999998	D	0.57899	0.981	P	0.55161	0.77	D	0.96169	0.9121	10	0.72032	D	0.01	-33.2579	13.5695	0.61838	0.0706:0.0:0.9294:0.0	.	1230	P54098	DPOG1_HUMAN	F	1230	ENSP00000268124:S1230F;ENSP00000399851:S1230F	ENSP00000268124:S1230F	S	-	2	0	POLG	87661017	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.690000	0.84178	2.824000	0.97209	0.655000	0.94253	TCC		0.507	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		6	55	0	0	0	1	0	6	55				
PRR3	80742	broad.mit.edu	37	6	30525976	30525976	+	Silent	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr6:30525976C>T	ENST00000376560.3	+	2	615	c.156C>T	c.(154-156)ggC>ggT	p.G52G	PRR3_ENST00000376557.3_Intron|GNL1_ENST00000376621.3_5'Flank|PRR3_ENST00000498336.1_3'UTR	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN	proline rich 3	52	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			lung(1)|ovary(1)	2						GAAAACCTGGCGACCCTAAGT	0.502																																						ENST00000376560.3																			0				lung(1)|ovary(1)	2						c.(154-156)ggC>ggT		proline rich 3							86.0	88.0	87.0					6																	30525976		1170	2502	3672	SO:0001819	synonymous_variant	80742						nucleic acid binding|zinc ion binding	g.chr6:30525976C>T	AK074531	CCDS43440.1, CCDS43441.1	6p21.32	2013-01-18	2004-05-27		ENSG00000204576	ENSG00000204576		"""Zinc fingers, CCCH-type domain containing"""	21149	protein-coding gene	gene with protein product			"""proline-rich polpeptide 3"""				Standard	NM_025263		Approved	CAT56, Em:AB014077.1, Em:AB023052.2	uc003nqi.2	P79522	OTTHUMG00000031037	ENST00000376560.3:c.156C>T	6.37:g.30525976C>T						PRR3_ENST00000498336.1_3'UTR|PRR3_ENST00000376557.3_Intron	p.G52G	NM_025263.3	NP_079539.2	P79522	PRR3_HUMAN			2	615	+			52			Pro-rich.		A1A4H4|Q5RJB5|Q5STN6	Silent	SNP	ENST00000376560.3	37	c.156C>T	CCDS43440.1																																																																																				0.502	PRR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076033.2	NM_025263		6	32	0	0	0	1	0	6	32				
MTR	4548	broad.mit.edu	37	1	236966820	236966820	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr1:236966820C>T	ENST00000366577.5	+	2	521	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.R43W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	43	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CATGATCCAGCGGGAGAAGCT	0.468																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(127-129)Cgg>Tgg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						111.0	112.0	111.0					1																	236966820		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236966820C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.127C>T	1.37:g.236966820C>T	ENSP00000355536:p.Arg43Trp					MTR_ENST00000535889.1_Missense_Mutation_p.R43W|MTR_ENST00000418145.2_Intron	p.R43W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	2	521	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	43			Hcy-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.127C>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466598	0.84425	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.13538	2.58;2.58	4.95	2.97	0.34412	Homocysteine S-methyltransferase (4);	0.327633	0.29266	N	0.012656	T	0.37019	0.0988	M	0.91038	3.17	0.39513	D	0.968399	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.55011	0.766;0.766;0.766	T	0.57069	-0.7874	10	0.87932	D	0	-0.8406	13.2359	0.59969	0.2869:0.7131:0.0:0.0	.	43;43;43	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	W	43	ENSP00000355536:R43W;ENSP00000441845:R43W	ENSP00000355536:R43W	R	+	1	2	MTR	235033443	0.998000	0.40836	0.706000	0.30403	0.800000	0.45204	3.081000	0.50120	1.312000	0.45043	0.644000	0.83932	CGG		0.468	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		3	55	0	0	0	1	0	3	55				
ZNF671	79891	broad.mit.edu	37	19	58232392	58232392	+	Silent	SNP	G	G	A	rs377518791		TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr19:58232392G>A	ENST00000317398.6	-	4	1157	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S256S|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAATCAGGCCGGAGATTTGTC	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19319	0.0		0.0	False		,,,				2504	0.001					ENST00000317398.6																			0				kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1060-1062)tcC>tcT		zinc finger protein 671		G		0,4406		0,0,2203	70.0	64.0	66.0		1062	-3.7	0.0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF671	NM_024833.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		354/535	58232392	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232392G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1062C>T	19.37:g.58232392G>A						AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.S256S	p.S354S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1157	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	354					A6NF07|Q9H5E9	Silent	SNP	ENST00000317398.6	37	c.1062C>T	CCDS12961.1																																																																																				0.453	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		4	61	0	0	0	1	0	4	61				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	50	0	0	0	1	0	4	50				
MIR9-2	407047	broad.mit.edu	37	5	87980831	87980831	+	RNA	DEL	G	G	-			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr5:87980831delG	ENST00000510274.1	+	0	46																											aggaggaggaggGATGGGAGG	0.587																																						ENST00000510274.1																			0																																																			0							g.chr5:87980831delG																													5.37:g.87980831delG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.587	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			2	4						2	4	---	---	---	---
TMEM151A	256472	broad.mit.edu	37	11	66063023	66063023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9L4-01A-11D-A41K-08	TCGA-ZG-A9L4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7d643e8-1bc8-4a0d-af31-ca9f06243547	c35ccd5c-e37d-41c1-9ebf-b805bc3cfa63	g.chr11:66063023delC	ENST00000327259.4	+	2	1450	c.1306delC	c.(1306-1308)cccfs	p.P436fs		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	436						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GGACACGGAACCCCTGGAGAG	0.731																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(1306-1308)ccfs		transmembrane protein 151A							5.0	6.0	6.0					11																	66063023		1557	3176	4733	SO:0001589	frameshift_variant	256472					integral to membrane		g.chr11:66063023delC	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1306delC	11.37:g.66063023delC	ENSP00000326244:p.Pro436fs						p.P436fs	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	1450	+			436					Q8ND14	Frame_Shift_Del	DEL	ENST00000327259.4	37	c.1306delC	CCDS8133.1																																																																																				0.731	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		2	4						2	4	---	---	---	---
