#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
FOLH1B	219595	broad.mit.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395333A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395333A>G										Q9HBA9	FOH1B_HUMAN			0	731	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.348	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	56	0	0	0	1	0	3	56				
MLIP	90523	broad.mit.edu	37	6	53989504	53989504	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53989504A>G	ENST00000274897.5	+	3	566	c.453A>G	c.(451-453)ccA>ccG	p.P151P	MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Silent_p.P151P	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	151						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGCCCCCCAGGGGGGATTG	0.537																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(451-453)ccA>ccG		muscular LMNA-interacting protein							77.0	79.0	78.0					6																	53989504		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53989504A>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.453A>G	6.37:g.53989504A>G						MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000274897.5_Silent_p.P151P|MLIP_ENST00000511744.1_3'UTR	p.P151P			Q5VWP3	MLIP_HUMAN			3	566	+			151					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.453A>G	CCDS4954.1																																																																																				0.537	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		6	155	0	0	0	1	0	6	155				
ANK1	286	broad.mit.edu	37	8	41554019	41554019	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr8:41554019C>T	ENST00000347528.4	-	26	2905	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R941Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	941	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGCACGTCCGTGGCGGGAT	0.682																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2821-2823)cGg>cAg		ankyrin 1, erythrocytic							44.0	43.0	43.0					8																	41554019		2203	4299	6502	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554019C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2822G>A	8.37:g.41554019C>T	ENSP00000339620:p.Arg941Gln					ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R941Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q	p.R941Q			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	2905	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	941			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2822G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704567	0.96812	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.994;0.977;0.937;0.997;0.997	T	0.66736	-0.5848	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	982;941;941;941;941;257	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Q	941;941;941;941;941;941;982;941	ENSP00000339620:R941Q;ENSP00000289734:R941Q;ENSP00000369082:R941Q;ENSP00000380149:R941Q;ENSP00000380147:R941Q;ENSP00000309131:R941Q;ENSP00000265709:R982Q	ENSP00000265709:R982Q	R	-	2	0	ANK1	41673176	1.000000	0.71417	0.814000	0.32528	0.756000	0.42949	6.050000	0.71063	2.686000	0.91538	0.561000	0.74099	CGG		0.682	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	67	0	0	0	1	0	4	67				
FNIP2	57600	broad.mit.edu	37	4	159750278	159750278	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:159750278A>G	ENST00000264433.6	+	3	357	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Silent_p.G117G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	94					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCCAGGGAagcagcagtg	0.458																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(280-282)ggA>ggG		folliculin interacting protein 2							45.0	46.0	46.0					4																	159750278		2041	4207	6248	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159750278A>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.282A>G	4.37:g.159750278A>G						FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Silent_p.G117G	p.G94G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	3	357	+	all_hematologic(180;0.24)		94					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.282A>G	CCDS47155.1																																																																																				0.458	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	25	0	0	0	1	0	3	25				
TPTE2	93492	broad.mit.edu	37	13	20048104	20048104	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr13:20048104A>G	ENST00000400230.2	-	6	386	c.342T>C	c.(340-342)gcT>gcC	p.A114A	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Silent_p.A114A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000382977.4_Silent_p.A114A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	114					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A77A(1)|p.A114A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAAGCCAATAGCTAGAGAAA	0.333																																						ENST00000400230.2																			2	Substitution - coding silent(2)	p.A77A(1)|p.A114A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(340-342)gcT>gcC		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							51.0	57.0	55.0					13																	20048104		2201	4296	6497	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048104A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.342T>C	13.37:g.20048104A>G						TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000382977.4_Silent_p.A114A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Silent_p.A114A	p.A114A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	386	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	114					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.342T>C	CCDS45014.1																																																																																				0.333	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	153	0	0	0	1	0	3	153				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	45	0	0	0	1	0	4	45				
SPTBN4	57731	broad.mit.edu	37	19	41026051	41026051	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:41026051G>A	ENST00000352632.3	+	16	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1216					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGTGCTGCGTAACCAGGTG	0.672																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3646-3648)cGt>cAt		spectrin, beta, non-erythrocytic 4							9.0	10.0	10.0					19																	41026051		2109	4128	6237	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41026051G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3647G>A	19.37:g.41026051G>A	ENSP00000263373:p.Arg1216His					SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H	p.R1216H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3733	+			1216					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3647G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975268	0.18736	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.75154	-0.91;1.27;1.27	3.89	-0.906	0.10524	.	0.293275	0.28332	U	0.015737	T	0.40423	0.1116	N	0.01352	-0.895	0.80722	D	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.002;0.003	T	0.14254	-1.0479	10	0.72032	D	0.01	.	7.0653	0.25149	0.6735:0.0:0.3265:0.0	.	1216;1216	Q9H254;Q71S06	SPTN4_HUMAN;.	H	1216	ENSP00000263373:R1216H;ENSP00000340345:R1216H;ENSP00000340741:R1216H	ENSP00000340345:R1216H	R	+	2	0	SPTBN4	45717891	0.000000	0.05858	0.225000	0.23894	0.063000	0.16089	-0.126000	0.10563	0.028000	0.15324	-0.379000	0.06801	CGT		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	20	0	0	0	1	0	3	20				
HLA-DRA	3122	broad.mit.edu	37	6	32411670	32411670	+	Missense_Mutation	SNP	C	C	T	rs530789959		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:32411670C>T	ENST00000374982.5	+	4	746	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R250C			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				C|||	1	0.000199681	0.0008	0.0	5008	,	,		20038	0.0		0.0	False		,,,				2504	0.0					ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(748-750)Cgc>Tgc		major histocompatibility complex, class II, DR alpha							124.0	111.0	116.0					6																	32411670		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411670C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.673C>T	6.37:g.32411670C>T	ENSP00000364121:p.Arg225Cys					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R225C	p.R250C	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			4	857	+			250					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	.	16.42	3.117810	0.56505	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01871	4.59;4.83	5.06	3.29	0.37713	.	0.471757	0.23091	N	0.052037	T	0.02610	0.0079	M	0.76574	2.34	0.09310	N	1	D;D	0.71674	0.998;0.99	P;P	0.53360	0.724;0.634	T	0.36480	-0.9746	10	0.56958	D	0.05	.	7.8486	0.29440	0.0:0.813:0.0:0.187	.	225;250	Q30118;P01903	.;DRA_HUMAN	C	250;225	ENSP00000378786:R250C;ENSP00000364121:R225C	ENSP00000364121:R225C	R	+	1	0	HLA-DRA	32519648	0.000000	0.05858	0.007000	0.13788	0.244000	0.25665	0.522000	0.22909	0.846000	0.35142	0.573000	0.79308	CGC		0.532	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		8	115	0	0	0	1	0	8	115				
ELOVL5	60481	broad.mit.edu	37	6	53139895	53139895	+	Silent	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr6:53139895G>A	ENST00000542638.1	-	5	936	c.489C>T	c.(487-489)tgC>tgT	p.C163C	ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000370918.4_Silent_p.C153C|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000541407.1_Silent_p.C190C			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	163					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(487-489)tgC>tgT		ELOVL fatty acid elongase 5							77.0	64.0	69.0					6																	53139895		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53139895G>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.489C>T	6.37:g.53139895G>A						ELOVL5_ENST00000541407.1_Silent_p.C190C|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000370918.4_Silent_p.C153C	p.C163C			Q9NYP7	ELOV5_HUMAN			5	936	-	Lung NSC(77;0.116)		163					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.489C>T	CCDS4951.1																																																																																				0.517	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		3	55	0	0	0	1	0	3	55				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		3	115	0	0	0	1	0	3	115				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	36	0	0	0	1	0	3	36				
TPTE2	93492	broad.mit.edu	37	13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G	rs201242841		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.G116A(1)|p.G79A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(346-348)gGc>gCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50.0	56.0	54.0					13																	20048099		2201	4296	6497	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048099C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.347G>C	13.37:g.20048099C>G	ENSP00000383089:p.Gly116Ala					TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A	p.G116A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	391	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	116					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.347G>C	CCDS45014.1	252	0.11538461538461539	36	0.07317073170731707	19	0.052486187845303865	102	0.17832167832167833	95	0.12532981530343007	c	0	-2.627908	0.00115	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98329	-4.32;-4.87;-4.32;-4.32;-4.87;-4.32	2.33	-2.37	0.06643	Ion transport (1);	0.296377	0.32503	N	0.006020	T	0.00695	0.0023	N	0.00104	-2.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71702	-0.4513	9	.	.	.	-8.0858	6.9032	0.24295	0.0:0.5353:0.283:0.1817	.	79;116	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	A	116;116;79;79;116;116;116	ENSP00000372438:G116A;ENSP00000383089:G116A;ENSP00000255310:G79A;ENSP00000375098:G79A;ENSP00000372437:G116A;ENSP00000372435:G116A	.	G	-	2	0	TPTE2	18946099	0.991000	0.36638	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	-0.680000	0.05211	-1.933000	0.00509	GGC		0.343	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	152	0	0	0	1	0	3	152				
HOXA13	3209	broad.mit.edu	37	7	27237982	27237982	+	Silent	SNP	T	T	C	rs35608915	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:27237982T>C	ENST00000222753.4	-	2	1030	c.1002A>G	c.(1000-1002)ttA>ttG	p.L334L	HOTTIP_ENST00000521028.2_RNA|HOXA13_ENST00000518136.3_5'Flank|HOTTIP_ENST00000605136.1_RNA|HOTTIP_ENST00000421733.1_RNA|HOTTIP_ENST00000472494.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	334					artery morphogenesis (GO:0048844)|branching involved in prostate gland morphogenesis (GO:0060442)|embryonic forelimb morphogenesis (GO:0035115)|endothelial cell fate specification (GO:0060847)|endothelial cell morphogenesis (GO:0001886)|inner ear development (GO:0048839)|male genitalia development (GO:0030539)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of BMP signaling pathway (GO:0030510)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|ventricular septum development (GO:0003281)	intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CAAGTTCTTTTAATTGCACCT	0.507			T	NUP98	AML						OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T|||	5	0.000998403	0.0	0.0014	5008	,	,		18519	0.0		0.003	False		,,,				2504	0.001					ENST00000222753.4				Dom	yes		7	7p15-p14.2	3209	T	homeo box A13			L	NUP98		AML		0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						c.(1000-1002)ttA>ttG		homeobox A13		T		3,4403	6.2+/-15.9	0,3,2200	181.0	179.0	180.0		1002	0.4	1.0	7	dbSNP_126	180	34,8566	24.0+/-70.4	0,34,4266	no	coding-synonymous	HOXA13	NM_000522.4		0,37,6466	CC,CT,TT		0.3953,0.0681,0.2845		334/389	27237982	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	3209				skeletal system development	nucleus	sequence-specific DNA binding	g.chr7:27237982T>C		CCDS5412.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106031	ENSG00000106031		"""Homeoboxes / ANTP class : HOXL subclass"""	5102	protein-coding gene	gene with protein product		142959	"""homeo box A13"""	HOX1J, HOX1		1973146, 1358459	Standard	NM_000522		Approved		uc003szb.1	P31271	OTTHUMG00000023438	ENST00000222753.4:c.1002A>G	7.37:g.27237982T>C			OREG0003748	type=REGULATORY REGION|Gene=HOXA13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792		p.L334L	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN			2	1030	-			334					A4D188|O43371	Silent	SNP	ENST00000222753.4	37	c.1002A>G	CCDS5412.1																																																																																				0.507	HOXA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358752.3			5	214	0	0	0	1	0	5	214				
TTC30B	150737	broad.mit.edu	37	2	178416303	178416303	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr2:178416303C>T	ENST00000408939.3	-	1	1439	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	397					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1189-1191)Gta>Ata		tetratricopeptide repeat domain 30B							235.0	240.0	238.0					2																	178416303		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416303C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1189G>A	2.37:g.178416303C>T	ENSP00000386181:p.Val397Ile						p.V397I	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1439	-			397					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1189G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.614009	0.03690	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.16073	2.37	4.77	4.77	0.60923	.	0.052693	0.85682	D	0.000000	T	0.09730	0.0239	N	0.16656	0.425	0.58432	D	0.999998	B	0.10296	0.003	B	0.13407	0.009	T	0.07309	-1.0779	10	0.06099	T	0.92	.	13.7493	0.62897	0.0:0.9229:0.0:0.0771	.	397	Q8N4P2	TT30B_HUMAN	I	350;397	ENSP00000386181:V397I	ENSP00000386181:V397I	V	-	1	0	TTC30B	178124549	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	4.994000	0.63901	2.628000	0.89032	0.655000	0.94253	GTA		0.448	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	330	0	0	0	1	0	6	330				
EBI3	10148	broad.mit.edu	37	19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	rs182560914		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14648	0.0		0.001	False		,,,				2504	0.0					ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(580-582)Cgg>Tgg		Epstein-Barr virus induced 3							58.0	57.0	57.0					19																	4236975		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4236975C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.580C>T	19.37:g.4236975C>T	ENSP00000221847:p.Arg194Trp						p.R194W	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	+		Hepatocellular(1079;0.137)	194			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.580C>T	CCDS12123.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.49	1.954193	0.34471	.	.	ENSG00000105246	ENST00000221847	T	0.59502	0.26	5.41	-0.774	0.10991	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.861076	0.10217	N	0.701413	T	0.47544	0.1451	L	0.54323	1.7	0.09310	N	1	B	0.26147	0.143	B	0.20577	0.03	T	0.36939	-0.9727	10	0.40728	T	0.16	-21.3836	7.7652	0.28976	0.4553:0.4575:0.0:0.0872	.	194	Q14213	IL27B_HUMAN	W	194	ENSP00000221847:R194W	ENSP00000221847:R194W	R	+	1	2	EBI3	4187975	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.061000	0.11693	-0.095000	0.12351	0.650000	0.86243	CGG		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			3	85	0	0	0	1	0	3	85				
NHSL2	340527	broad.mit.edu	37	X	71360543	71360543	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chrX:71360543G>T	ENST00000373677.1	+	2	3309	c.2047G>T	c.(2047-2049)Ggc>Tgc	p.G683C	NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(2047-2049)Ggc>Tgc		NHS-like 2							53.0	49.0	50.0					X																	71360543		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360543G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2047G>T	X.37:g.71360543G>T	ENSP00000362781:p.Gly683Cys					NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C	p.G683C			F5H593	F5H593_HUMAN			2	3309	+	Renal(35;0.156)		1049					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2047G>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538055	0.45176	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.49720	1.45;0.8;0.77;0.8	6.08	-9.76	0.00503	.	1.007180	0.07974	N	0.984427	T	0.25791	0.0628	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16603	0.007;0.018;0.018	B;B;B	0.15484	0.013;0.013;0.013	T	0.32161	-0.9917	10	0.59425	D	0.04	-0.0168	6.4653	0.21977	0.5785:0.1589:0.1872:0.0754	.	1049;818;683	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	C	1049;683;818;683	ENSP00000444617:G1049C;ENSP00000362781:G683C;ENSP00000424079:G818C;ENSP00000444914:G683C	ENSP00000362781:G683C	G	+	1	0	NHSL2	71277268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-2.498000	0.00512	-0.905000	0.02835	GGC		0.562	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		3	72	1	0	1	1	1	3	72				
STXBP5L	9515	broad.mit.edu	37	3	120628502	120628502	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:120628502G>A	ENST00000273666.6	+	2	348	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	26					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(76-78)aGt>aAt		syntaxin binding protein 5-like							46.0	54.0	52.0					3																	120628502		1912	4139	6051	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120628502G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.77G>A	3.37:g.120628502G>A	ENSP00000273666:p.Ser26Asn					STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N	p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	2	348	+			26					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.77G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415669	0.42817	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.52526	1.72;1.73;1.52;1.03;1.5;0.66;1.74	5.04	2.1	0.27182	.	0.357947	0.24403	N	0.038821	T	0.24736	0.0600	N	0.08118	0	0.23107	N	0.998286	B;B	0.17667	0.023;0.023	B;B	0.18263	0.021;0.021	T	0.16512	-1.0400	10	0.28530	T	0.3	-28.0666	9.3173	0.37941	0.0:0.299:0.5462:0.1548	.	26;26	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	26	ENSP00000273666:S26N;ENSP00000420019:S26N;ENSP00000419627:S26N;ENSP00000420287:S26N;ENSP00000420666:S26N;ENSP00000419404:S26N;ENSP00000420167:S26N	ENSP00000273666:S26N	S	+	2	0	STXBP5L	122111192	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	2.009000	0.40903	0.250000	0.21479	0.650000	0.86243	AGT		0.478	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			3	66	0	0	0	1	0	3	66				
CEP192	55125	broad.mit.edu	37	18	13100361	13100361	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr18:13100361T>G	ENST00000325971.8	+	36	6526	c.4933T>G	c.(4933-4935)Ttg>Gtg	p.L1645V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.L2241V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1645					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTAACTCGTTTGACCTCCAA	0.363																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6721-6723)Ttg>Gtg		centrosomal protein 192kDa							77.0	75.0	76.0					18																	13100361		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13100361T>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4933T>G	18.37:g.13100361T>G	ENSP00000317156:p.Leu1645Val					CEP192_ENST00000325971.8_Missense_Mutation_p.L1645V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V|CEP192_ENST00000540847.2_3'UTR	p.L2241V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6801	+			1836					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6721T>G		.	.	.	.	.	.	.	.	.	.	T	4.087	0.014049	0.07959	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06528	3.29;3.29;3.29	5.52	0.189	0.15119	.	1.695950	0.02940	N	0.140341	T	0.09291	0.0229	L	0.56769	1.78	0.09310	N	1	P;P;P;B	0.45827	0.867;0.604;0.744;0.001	P;B;B;B	0.44811	0.461;0.271;0.21;0.002	T	0.29088	-1.0023	10	0.21014	T	0.42	2.1655	3.4464	0.07482	0.1317:0.0839:0.4427:0.3417	.	1766;2241;245;843	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	V	2241;1645;1645;1766;245	ENSP00000427550:L2241V;ENSP00000317156:L1645V;ENSP00000389190:L1766V	ENSP00000317156:L1645V	L	+	1	2	CEP192	13090361	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.550000	0.23345	-0.118000	0.11851	-0.313000	0.08912	TTG		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	117	0	0	0	1	0	8	117				
OR4N4	283694	broad.mit.edu	37	15	22382666	22382666	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:22382666A>T	ENST00000328795.4	+	1	285	c.194A>T	c.(193-195)aAc>aTc	p.N65I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	65						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTCTGGGCAACTTGGCCTTC	0.463																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(193-195)aAc>aTc		olfactory receptor, family 4, subfamily N, member 4							147.0	148.0	147.0					15																	22382666		2203	4297	6500	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382666A>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.194A>T	15.37:g.22382666A>T	ENSP00000332500:p.Asn65Ile					RP11-69H14.6_ENST00000558896.1_RNA	p.N65I	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	285	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	65					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.194A>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099462	0.37048	.	.	ENSG00000183706	ENST00000328795	T	0.13089	2.62	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.26955	0.0660	L	0.60455	1.87	0.32265	N	0.569605	D	0.60575	0.988	P	0.62491	0.903	T	0.25152	-1.0140	10	0.59425	D	0.04	-6.4184	9.793	0.40717	1.0:0.0:0.0:0.0	.	65	Q8N0Y3	OR4N4_HUMAN	I	65	ENSP00000332500:N65I	ENSP00000332500:N65I	N	+	2	0	OR4N4	19884030	0.001000	0.12720	0.989000	0.46669	0.389000	0.30415	1.625000	0.37029	1.465000	0.48006	0.164000	0.16699	AAC		0.463	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			7	391	0	0	0	1	0	7	391				
OR4X1	390113	broad.mit.edu	37	11	48285551	48285551	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:48285551A>T	ENST00000320048.1	+	1	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(139-141)Atc>Ttc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							178.0	159.0	166.0					11																	48285551		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285551A>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.139A>T	11.37:g.48285551A>T	ENSP00000321506:p.Ile47Phe						p.I47F	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	139	+			47					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.139A>T	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	9.029	0.986732	0.18889	.	.	ENSG00000176567	ENST00000320048	T	0.08546	3.08	4.29	-4.04	0.04010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18467	0.0443	H	0.94886	3.595	0.09310	N	1	P	0.48503	0.911	B	0.41988	0.372	T	0.22556	-1.0213	9	0.87932	D	0	.	11.4936	0.50396	0.492:0.0:0.508:0.0	.	47	Q8NH49	OR4X1_HUMAN	F	47	ENSP00000321506:I47F	ENSP00000321506:I47F	I	+	1	0	OR4X1	48242127	0.000000	0.05858	0.003000	0.11579	0.058000	0.15608	-0.061000	0.11693	-0.662000	0.05338	0.460000	0.39030	ATC		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		7	62	0	0	0	1	0	7	62				
CSMD2	114784	broad.mit.edu	37	1	34180219	34180219	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:34180219C>T	ENST00000373381.4	-	21	3550	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1085	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCCACAGGCGCCGTCTGCC	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3373-3375)cGc>cAc		CUB and Sushi multiple domains 2							127.0	144.0	139.0					1																	34180219		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180219C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3374G>A	1.37:g.34180219C>T	ENSP00000362479:p.Arg1125His						p.R1125H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3550	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1085			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3374G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.424714	0.96111	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.85130	0.997;0.978	T	0.81597	-0.0860	10	0.23302	T	0.38	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1085;1125	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1125	ENSP00000362479:R1125H	ENSP00000241312:R1085H	R	-	2	0	CSMD2	33952806	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	CGC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	341	0	0	0	1	0	20	341				
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		ACCAGCGGCTTGTAGTACACA	0.627																																						ENST00000330048.5																			0																																																			0							g.chr16:32890639T>C	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890639T>C								NR_003083.2						0	3159	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.627	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	37	0	0	0	1	0	4	37				
ZNF665	79788	broad.mit.edu	37	19	53668940	53668940	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr19:53668940C>T	ENST00000600412.1	-	2	723	c.608G>A	c.(607-609)gGc>gAc	p.G203D	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(607-609)gGc>gAc		zinc finger protein 665							122.0	131.0	128.0					19																	53668940		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668940C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.608G>A	19.37:g.53668940C>T	ENSP00000469154:p.Gly203Asp					ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D	p.G203D			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	723	-			203					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.608G>A		.	.	.	.	.	.	.	.	.	.	C	9.115	1.007516	0.19199	.	.	ENSG00000197497	ENST00000396424	T	0.20881	2.04	2.07	-1.76	0.08006	.	.	.	.	.	T	0.24586	0.0596	L	0.31420	0.93	0.09310	N	0.999999	D	0.63880	0.993	D	0.67900	0.954	T	0.14896	-1.0456	9	0.56958	D	0.05	.	3.2245	0.06728	0.1911:0.4318:0.0:0.3772	.	268	Q9H7R5-2	.	D	268	ENSP00000379702:G268D	ENSP00000379702:G268D	G	-	2	0	ZNF665	58360752	0.000000	0.05858	0.005000	0.12908	0.165000	0.22458	-1.020000	0.03618	-0.179000	0.10654	0.436000	0.28706	GGC		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		5	248	0	0	0	1	0	5	248				
COIL	8161	broad.mit.edu	37	17	55016500	55016500	+	Missense_Mutation	SNP	T	T	C	rs533878148		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr17:55016500T>C	ENST00000240316.4	-	7	1697	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	555	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													T|||	1	0.000199681	0.0	0.0	5008	,	,		17301	0.0		0.001	False		,,,				2504	0.0					ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1663-1665)Aaa>Gaa		coilin							119.0	114.0	116.0					17																	55016500		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55016500T>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1663A>G	17.37:g.55016500T>C	ENSP00000240316:p.Lys555Glu						p.K555E	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			7	1697	-	Breast(9;6.15e-08)		555					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1663A>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600898	0.28534	.	.	ENSG00000121058	ENST00000240316	T	0.35048	1.33	4.84	4.84	0.62591	.	0.333481	0.31872	N	0.006935	T	0.21468	0.0517	N	0.14661	0.345	0.21950	N	0.999451	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.32370	T	0.25	-14.4845	10.9787	0.47482	0.0:0.0:0.0:1.0	.	555	P38432	COIL_HUMAN	E	555	ENSP00000240316:K555E	ENSP00000240316:K555E	K	-	1	0	COIL	52371499	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	1.545000	0.36169	2.173000	0.68751	0.533000	0.62120	AAA		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			6	141	0	0	0	1	0	6	141				
CXXC5	51523	broad.mit.edu	37	5	139060332	139060332	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr5:139060332G>A	ENST00000302517.3	+	2	938	c.224G>A	c.(223-225)cGc>cAc	p.R75H	CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	75					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGCGCCGCTCCCGCCCG	0.642																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(223-225)cGc>cAc		CXXC finger protein 5							57.0	75.0	69.0					5																	139060332		2105	4207	6312	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060332G>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.224G>A	5.37:g.139060332G>A	ENSP00000302543:p.Arg75His					CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H	p.R75H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	938	+			75					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.224G>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351655	0.61183	.	.	ENSG00000171604	ENST00000504944;ENST00000302517;ENST00000504844;ENST00000502336;ENST00000520967;ENST00000511048;ENST00000509238;ENST00000502716;ENST00000503511;ENST00000511457	.	.	.	5.41	4.42	0.53409	.	0.210247	0.39341	N	0.001399	T	0.29588	0.0738	N	0.19112	0.55	0.39473	D	0.96776	D	0.60160	0.987	P	0.45232	0.474	T	0.06110	-1.0845	8	.	.	.	-18.3037	4.0536	0.09806	0.2611:0.0:0.7389:0.0	.	75	Q7LFL8	CXXC5_HUMAN	H	75	.	.	R	+	2	0	CXXC5	139040516	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.438000	0.66550	2.531000	0.85337	0.561000	0.74099	CGC		0.642	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		4	129	0	0	0	1	0	4	129				
BAMBI	25805	broad.mit.edu	37	10	28970195	28970195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr10:28970195C>T	ENST00000375533.3	+	2	641	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	29					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(85-87)Cga>Tga		BMP and activin membrane-bound inhibitor							93.0	90.0	91.0					10																	28970195		2203	4300	6503	SO:0001587	stop_gained	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970195C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.85C>T	10.37:g.28970195C>T	ENSP00000364683:p.Arg29*						p.R29*	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	641	+			29						Nonsense_Mutation	SNP	ENST00000375533.3	37	c.85C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021380	0.98613	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.64	1.99	0.26369	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7832	0.69781	0.6988:0.3012:0.0:0.0	.	.	.	.	X	29	.	ENSP00000364683:R29X	R	+	1	2	BAMBI	29010201	0.995000	0.38212	0.998000	0.56505	0.986000	0.74619	1.636000	0.37144	0.524000	0.28502	0.655000	0.94253	CGA		0.433	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		3	83	0	0	0	1	0	3	83				
COL24A1	255631	broad.mit.edu	37	1	86250007	86250007	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr1:86250007T>C	ENST00000370571.2	-	49	4468	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1368	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4102-4104)Aga>Gga		collagen, type XXIV, alpha 1							114.0	110.0	111.0					1																	86250007		1930	4133	6063	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86250007T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4102A>G	1.37:g.86250007T>C	ENSP00000359603:p.Arg1368Gly					COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	49	4468	-			1368			Collagen-like 16.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4102A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617128	0.46736	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94184	-3.2;-3.37	5.36	4.16	0.48862	.	0.000000	0.36374	N	0.002634	D	0.96405	0.8827	M	0.91249	3.19	0.48395	D	0.999641	D;D	0.71674	0.998;0.998	D;D	0.70487	0.954;0.969	D	0.96328	0.9241	10	0.52906	T	0.07	.	11.9821	0.53125	0.0:0.0:0.1447:0.8553	.	1368;1368	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	G	1368	ENSP00000359603:R1368G;ENSP00000392531:R1368G	ENSP00000359603:R1368G	R	-	1	2	COL24A1	86022595	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.256000	0.51492	2.034000	0.60081	0.482000	0.46254	AGA		0.453	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	117	0	0	0	1	0	3	117				
MUC4	4585	broad.mit.edu	37	3	195516162	195516162	+	Silent	SNP	T	T	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:195516162T>G	ENST00000463781.3	-	2	2748	c.2289A>C	c.(2287-2289)tcA>tcC	p.S763S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S763S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	768					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGTCAGGTGAGGTGCTGG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2287-2289)tcA>tcC		mucin 4, cell surface associated							71.0	81.0	78.0					3																	195516162		2162	4285	6447	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516162T>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2289A>C	3.37:g.195516162T>G						MUC4_ENST00000475231.1_Silent_p.S763S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.S763S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2748	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	768					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2289A>C	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	62	0	0	0	1	0	7	62				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		6	102	0	0	0	1	0	6	102				
ENPEP	2028	broad.mit.edu	37	4	111398002	111398002	+	Silent	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr4:111398002C>T	ENST00000265162.5	+	1	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	144					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCACCCGGCTCCCGGAGCTGA	0.622																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(430-432)ctC>ctT		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						68.0	79.0	75.0					4																	111398002		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398002C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.432C>T	4.37:g.111398002C>T							p.L144L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	774	+		Hepatocellular(203;0.217)	144					Q504U2	Silent	SNP	ENST00000265162.5	37	c.432C>T	CCDS3691.1																																																																																				0.622	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			19	202	0	0	0	1	0	19	202				
VPS13C	54832	broad.mit.edu	37	15	62305292	62305292	+	Silent	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr15:62305292G>A	ENST00000261517.5	-	11	844	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395898.3_Silent_p.A214A|VPS13C_ENST00000395896.4_Silent_p.A257A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(769-771)gcC>gcT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							78.0	73.0	74.0					15																	62305292		2203	4299	6502	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62305292G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.771C>T	15.37:g.62305292G>A						VPS13C_ENST00000395896.4_Silent_p.A257A|VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395898.3_Silent_p.A214A	p.A257A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			11	844	-			257						Silent	SNP	ENST00000261517.5	37	c.771C>T	CCDS32257.1																																																																																				0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		9	100	0	0	0	1	0	9	100				
MLIP	90523	broad.mit.edu	37	6	53989504	53989504	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr6:53989504A>G	ENST00000274897.5	+	3	566	c.453A>G	c.(451-453)ccA>ccG	p.P151P	MLIP_ENST00000370876.2_Silent_p.P89P|MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Silent_p.P151P	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	151						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAGGCCCCCCAGGGGGGATTG	0.537																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(451-453)ccA>ccG		muscular LMNA-interacting protein							77.0	79.0	78.0					6																	53989504		2203	4300	6503	SO:0001819	synonymous_variant	90523					nuclear envelope|PML body	protein binding	g.chr6:53989504A>G	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.453A>G	6.37:g.53989504A>G						MLIP_ENST00000370877.2_Silent_p.P99P|MLIP_ENST00000502396.1_Silent_p.P162P|MLIP_ENST00000509997.1_Silent_p.P99P|MLIP_ENST00000274897.5_Silent_p.P151P|MLIP_ENST00000358276.5_Silent_p.P145P|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Silent_p.P89P	p.P151P			Q5VWP3	MLIP_HUMAN			3	566	+			151					B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	ENST00000274897.5	37	c.453A>G	CCDS4954.1																																																																																				0.537	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		6	155	0	0	0	1	0	6	155				
ANK1	286	broad.mit.edu	37	8	41554019	41554019	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr8:41554019C>T	ENST00000347528.4	-	26	2905	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000396942.1_Missense_Mutation_p.R941Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	941	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCGCACGTCCGTGGCGGGAT	0.682																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2821-2823)cGg>cAg		ankyrin 1, erythrocytic							44.0	43.0	43.0					8																	41554019		2203	4299	6502	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41554019C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2822G>A	8.37:g.41554019C>T	ENSP00000339620:p.Arg941Gln					ANK1_ENST00000379758.2_Missense_Mutation_p.R941Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R941Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R941Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R982Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R941Q|ANK1_ENST00000347528.4_Missense_Mutation_p.R941Q	p.R941Q			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	2905	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	941			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2822G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704567	0.96812	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.994;0.977;0.937;0.997;0.997	T	0.66736	-0.5848	10	0.72032	D	0.01	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	982;941;941;941;941;257	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	Q	941;941;941;941;941;941;982;941	ENSP00000339620:R941Q;ENSP00000289734:R941Q;ENSP00000369082:R941Q;ENSP00000380149:R941Q;ENSP00000380147:R941Q;ENSP00000309131:R941Q;ENSP00000265709:R982Q	ENSP00000265709:R982Q	R	-	2	0	ANK1	41673176	1.000000	0.71417	0.814000	0.32528	0.756000	0.42949	6.050000	0.71063	2.686000	0.91538	0.561000	0.74099	CGG		0.682	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		4	67	0	0	0	1	0	4	67				
FOLH1B	219595	broad.mit.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395333A>G	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395333A>G										Q9HBA9	FOH1B_HUMAN			0	731	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.348	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		3	56	0	0	0	1	0	3	56				
FNIP2	57600	broad.mit.edu	37	4	159750278	159750278	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr4:159750278A>G	ENST00000264433.6	+	3	357	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Silent_p.G117G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	94					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCCAGGGAagcagcagtg	0.458																																						ENST00000264433.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(280-282)ggA>ggG		folliculin interacting protein 2							45.0	46.0	46.0					4																	159750278		2041	4207	6248	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159750278A>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.282A>G	4.37:g.159750278A>G						FNIP2_ENST00000379346.3_Silent_p.G117G|FNIP2_ENST00000505445.1_3'UTR	p.G94G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	3	357	+	all_hematologic(180;0.24)		94					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.282A>G	CCDS47155.1																																																																																				0.458	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		3	25	0	0	0	1	0	3	25				
TF	7018	broad.mit.edu	37	3	133473446	133473446	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:133473446G>A	ENST00000402696.3	+	4	918	c.433G>A	c.(433-435)Gct>Act	p.A145T	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Missense_Mutation_p.A18T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	145	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	AGGCAGGTCCGCTGGGTGGAA	0.527																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(433-435)Gct>Act		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						181.0	177.0	178.0					3																	133473446		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133473446G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.433G>A	3.37:g.133473446G>A	ENSP00000385834:p.Ala145Thr					TF_ENST00000264998.3_Missense_Mutation_p.A18T|TF_ENST00000475382.1_3'UTR	p.A145T	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			4	918	+			145			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.433G>A	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561710	0.65538	.	.	ENSG00000091513	ENST00000402696;ENST00000482271;ENST00000264998	T;T;T	0.40225	1.14;1.04;1.14	5.25	3.44	0.39384	.	0.092655	0.85682	D	0.000000	T	0.67135	0.2861	H	0.96970	3.915	0.51767	D	0.999938	D	0.56287	0.975	P	0.54590	0.756	T	0.74093	-0.3776	10	0.72032	D	0.01	-22.3783	9.3828	0.38325	0.0762:0.0:0.7801:0.1437	.	145	P02787	TRFE_HUMAN	T	145;18;18	ENSP00000385834:A145T;ENSP00000419338:A18T;ENSP00000264998:A18T	ENSP00000264998:A18T	A	+	1	0	TF	134956136	1.000000	0.71417	0.099000	0.21106	0.398000	0.30690	5.236000	0.65354	0.777000	0.33496	-0.254000	0.11334	GCT		0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		5	371	0	0	0	1	0	5	371				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		8	279	0	0	0	1	0	8	279				
TPTE2	93492	broad.mit.edu	37	13	20048104	20048104	+	Silent	SNP	A	A	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr13:20048104A>G	ENST00000400230.2	-	6	386	c.342T>C	c.(340-342)gcT>gcC	p.A114A	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Silent_p.A114A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Silent_p.A77A|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000382977.4_Silent_p.A114A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	114					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.A77A(1)|p.A114A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAAGCCAATAGCTAGAGAAA	0.333																																						ENST00000400230.2																			2	Substitution - coding silent(2)	p.A77A(1)|p.A114A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(340-342)gcT>gcC		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							51.0	57.0	55.0					13																	20048104		2201	4296	6497	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048104A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.342T>C	13.37:g.20048104A>G						TPTE2_ENST00000382978.1_Silent_p.A114A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Silent_p.A114A|TPTE2_ENST00000382977.4_Silent_p.A114A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Silent_p.A77A|TPTE2_ENST00000390680.2_Silent_p.A77A	p.A114A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	386	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	114					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.342T>C	CCDS45014.1																																																																																				0.333	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	153	0	0	0	1	0	3	153				
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89395322C>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395322C>T										Q9HBA9	FOH1B_HUMAN			0	720	+									RNA	SNP	ENST00000532352.1	37																																																																																						0.343	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	45	0	0	0	1	0	4	45				
SPTBN4	57731	broad.mit.edu	37	19	41026051	41026051	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:41026051G>A	ENST00000352632.3	+	16	3733	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1216					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGGTGCTGCGTAACCAGGTG	0.672																																						ENST00000352632.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(3646-3648)cGt>cAt		spectrin, beta, non-erythrocytic 4							9.0	10.0	10.0					19																	41026051		2109	4128	6237	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41026051G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3647G>A	19.37:g.41026051G>A	ENSP00000263373:p.Arg1216His					SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1216H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1216H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1216H	p.R1216H			Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		16	3733	+			1216					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.3647G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975268	0.18736	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.75154	-0.91;1.27;1.27	3.89	-0.906	0.10524	.	0.293275	0.28332	U	0.015737	T	0.40423	0.1116	N	0.01352	-0.895	0.80722	D	1	B;B	0.20261	0.043;0.0	B;B	0.08055	0.002;0.003	T	0.14254	-1.0479	10	0.72032	D	0.01	.	7.0653	0.25149	0.6735:0.0:0.3265:0.0	.	1216;1216	Q9H254;Q71S06	SPTN4_HUMAN;.	H	1216	ENSP00000263373:R1216H;ENSP00000340345:R1216H;ENSP00000340741:R1216H	ENSP00000340345:R1216H	R	+	2	0	SPTBN4	45717891	0.000000	0.05858	0.225000	0.23894	0.063000	0.16089	-0.126000	0.10563	0.028000	0.15324	-0.379000	0.06801	CGT		0.672	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			3	20	0	0	0	1	0	3	20				
HLA-DRA	3122	broad.mit.edu	37	6	32411670	32411670	+	Missense_Mutation	SNP	C	C	T	rs530789959		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr6:32411670C>T	ENST00000374982.5	+	4	746	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.R250C			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	250					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGCAGCAGAACGCAGGGGGCC	0.532									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				C|||	1	0.000199681	0.0008	0.0	5008	,	,		20038	0.0		0.0	False		,,,				2504	0.0					ENST00000395388.2																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						c.(748-750)Cgc>Tgc		major histocompatibility complex, class II, DR alpha							124.0	111.0	116.0					6																	32411670		1511	2709	4220	SO:0001583	missense	3122	T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32411670C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.673C>T	6.37:g.32411670C>T	ENSP00000364121:p.Arg225Cys					HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R225C	p.R250C	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN			4	857	+			250					A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.748C>T		.	.	.	.	.	.	.	.	.	.	.	16.42	3.117810	0.56505	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01871	4.59;4.83	5.06	3.29	0.37713	.	0.471757	0.23091	N	0.052037	T	0.02610	0.0079	M	0.76574	2.34	0.09310	N	1	D;D	0.71674	0.998;0.99	P;P	0.53360	0.724;0.634	T	0.36480	-0.9746	10	0.56958	D	0.05	.	7.8486	0.29440	0.0:0.813:0.0:0.187	.	225;250	Q30118;P01903	.;DRA_HUMAN	C	250;225	ENSP00000378786:R250C;ENSP00000364121:R225C	ENSP00000364121:R225C	R	+	1	0	HLA-DRA	32519648	0.000000	0.05858	0.007000	0.13788	0.244000	0.25665	0.522000	0.22909	0.846000	0.35142	0.573000	0.79308	CGC		0.532	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111		8	115	0	0	0	1	0	8	115				
ELOVL5	60481	broad.mit.edu	37	6	53139895	53139895	+	Silent	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr6:53139895G>A	ENST00000542638.1	-	5	936	c.489C>T	c.(487-489)tgC>tgT	p.C163C	ELOVL5_ENST00000486973.1_5'Flank|ELOVL5_ENST00000370918.4_Silent_p.C153C|MIR5685_ENST00000579080.1_RNA|ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000541407.1_Silent_p.C190C			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	163					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TACAGTGGCCGCAGGGGACCC	0.517																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(487-489)tgC>tgT		ELOVL fatty acid elongase 5							77.0	64.0	69.0					6																	53139895		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53139895G>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.489C>T	6.37:g.53139895G>A						ELOVL5_ENST00000304434.6_Silent_p.C163C|ELOVL5_ENST00000370918.4_Silent_p.C153C|ELOVL5_ENST00000541407.1_Silent_p.C190C	p.C163C			Q9NYP7	ELOV5_HUMAN			5	936	-	Lung NSC(77;0.116)		163					B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.489C>T	CCDS4951.1																																																																																				0.517	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		3	55	0	0	0	1	0	3	55				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	36	0	0	0	1	0	3	36				
TPTE2	93492	broad.mit.edu	37	13	20048099	20048099	+	Missense_Mutation	SNP	C	C	G	rs201242841		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr13:20048099C>G	ENST00000400230.2	-	6	391	c.347G>C	c.(346-348)gGc>gCc	p.G116A	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	116					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G116A(1)|p.G79A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAATAAGCCAATAGCTAG	0.343																																						ENST00000400230.2																			2	Substitution - Missense(2)	p.G116A(1)|p.G79A(1)	endometrium(2)	NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(346-348)gGc>gCc		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							50.0	56.0	54.0					13																	20048099		2201	4296	6497	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20048099C>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.347G>C	13.37:g.20048099C>G	ENSP00000383089:p.Gly116Ala					TPTE2_ENST00000382978.1_Missense_Mutation_p.G116A|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.G116A|TPTE2_ENST00000382977.4_Missense_Mutation_p.G116A|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Missense_Mutation_p.G79A|TPTE2_ENST00000390680.2_Missense_Mutation_p.G79A	p.G116A			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	6	391	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	116					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.347G>C	CCDS45014.1	252	0.11538461538461539	36	0.07317073170731707	19	0.052486187845303865	102	0.17832167832167833	95	0.12532981530343007	c	0	-2.627908	0.00115	.	.	ENSG00000132958	ENST00000382978;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000343548	D;D;D;D;D;D	0.98329	-4.32;-4.87;-4.32;-4.32;-4.87;-4.32	2.33	-2.37	0.06643	Ion transport (1);	0.296377	0.32503	N	0.006020	T	0.00695	0.0023	N	0.00104	-2.125	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.71702	-0.4513	9	.	.	.	-8.0858	6.9032	0.24295	0.0:0.5353:0.283:0.1817	.	79;116	Q6XPS3-3;Q6XPS3	.;TPTE2_HUMAN	A	116;116;79;79;116;116;116	ENSP00000372438:G116A;ENSP00000383089:G116A;ENSP00000255310:G79A;ENSP00000375098:G79A;ENSP00000372437:G116A;ENSP00000372435:G116A	.	G	-	2	0	TPTE2	18946099	0.991000	0.36638	0.001000	0.08648	0.000000	0.00434	1.799000	0.38824	-0.680000	0.05211	-1.933000	0.00509	GGC		0.343	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		3	152	0	0	0	1	0	3	152				
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A	rs369770584		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6490-6492)acC>acT		mucin 4, cell surface associated							15.0	15.0	15.0					3																	195511959		676	1556	2232	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511959G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6492C>T	3.37:g.195511959G>A						MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.T2164T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6951	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	943					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6492C>T	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4	0	0	0	1	0	2	4				
TTC30B	150737	broad.mit.edu	37	2	178416303	178416303	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr2:178416303C>T	ENST00000408939.3	-	1	1439	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	397					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCCTGTACTTGTATGGTA	0.448																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1189-1191)Gta>Ata		tetratricopeptide repeat domain 30B							235.0	240.0	238.0					2																	178416303		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416303C>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1189G>A	2.37:g.178416303C>T	ENSP00000386181:p.Val397Ile						p.V397I	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	1439	-			397					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1189G>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	C	1.268	-0.614009	0.03690	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.16073	2.37	4.77	4.77	0.60923	.	0.052693	0.85682	D	0.000000	T	0.09730	0.0239	N	0.16656	0.425	0.58432	D	0.999998	B	0.10296	0.003	B	0.13407	0.009	T	0.07309	-1.0779	10	0.06099	T	0.92	.	13.7493	0.62897	0.0:0.9229:0.0:0.0771	.	397	Q8N4P2	TT30B_HUMAN	I	350;397	ENSP00000386181:V397I	ENSP00000386181:V397I	V	-	1	0	TTC30B	178124549	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	4.994000	0.63901	2.628000	0.89032	0.655000	0.94253	GTA		0.448	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	330	0	0	0	1	0	6	330				
EBI3	10148	broad.mit.edu	37	19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	rs182560914		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		14648	0.0		0.001	False		,,,				2504	0.0					ENST00000221847.5																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(580-582)Cgg>Tgg		Epstein-Barr virus induced 3							58.0	57.0	57.0					19																	4236975		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4236975C>T	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.580C>T	19.37:g.4236975C>T	ENSP00000221847:p.Arg194Trp						p.R194W	NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	5	633	+		Hepatocellular(1079;0.137)	194			Fibronectin type-III 2.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.580C>T	CCDS12123.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.49	1.954193	0.34471	.	.	ENSG00000105246	ENST00000221847	T	0.59502	0.26	5.41	-0.774	0.10991	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.861076	0.10217	N	0.701413	T	0.47544	0.1451	L	0.54323	1.7	0.09310	N	1	B	0.26147	0.143	B	0.20577	0.03	T	0.36939	-0.9727	10	0.40728	T	0.16	-21.3836	7.7652	0.28976	0.4553:0.4575:0.0:0.0872	.	194	Q14213	IL27B_HUMAN	W	194	ENSP00000221847:R194W	ENSP00000221847:R194W	R	+	1	2	EBI3	4187975	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	-0.061000	0.11693	-0.095000	0.12351	0.650000	0.86243	CGG		0.607	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			3	85	0	0	0	1	0	3	85				
OR4N4	283694	broad.mit.edu	37	15	22382666	22382666	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr15:22382666A>T	ENST00000328795.4	+	1	285	c.194A>T	c.(193-195)aAc>aTc	p.N65I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	65						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTCTGGGCAACTTGGCCTTC	0.463																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(193-195)aAc>aTc		olfactory receptor, family 4, subfamily N, member 4							147.0	148.0	147.0					15																	22382666		2203	4297	6500	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382666A>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.194A>T	15.37:g.22382666A>T	ENSP00000332500:p.Asn65Ile					RP11-69H14.6_ENST00000558896.1_RNA	p.N65I	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	285	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	65					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.194A>T	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099462	0.37048	.	.	ENSG00000183706	ENST00000328795	T	0.13089	2.62	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.26955	0.0660	L	0.60455	1.87	0.32265	N	0.569605	D	0.60575	0.988	P	0.62491	0.903	T	0.25152	-1.0140	10	0.59425	D	0.04	-6.4184	9.793	0.40717	1.0:0.0:0.0:0.0	.	65	Q8N0Y3	OR4N4_HUMAN	I	65	ENSP00000332500:N65I	ENSP00000332500:N65I	N	+	2	0	OR4N4	19884030	0.001000	0.12720	0.989000	0.46669	0.389000	0.30415	1.625000	0.37029	1.465000	0.48006	0.164000	0.16699	AAC		0.463	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			7	391	0	0	0	1	0	7	391				
NHSL2	340527	broad.mit.edu	37	X	71360543	71360543	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chrX:71360543G>T	ENST00000373677.1	+	2	3309	c.2047G>T	c.(2047-2049)Ggc>Tgc	p.G683C	NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C			Q5HYW2	NHSL2_HUMAN	NHS-like 2	683										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCGCCACCGGCGATGACCT	0.562																																						ENST00000373677.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28						c.(2047-2049)Ggc>Tgc		NHS-like 2							53.0	49.0	50.0					X																	71360543		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71360543G>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2047G>T	X.37:g.71360543G>T	ENSP00000362781:p.Gly683Cys					NHSL2_ENST00000540800.1_Missense_Mutation_p.G1049C|NHSL2_ENST00000535692.1_Missense_Mutation_p.G683C|NHSL2_ENST00000510661.1_Missense_Mutation_p.G818C	p.G683C			F5H593	F5H593_HUMAN			2	3309	+	Renal(35;0.156)		1049					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2047G>T		.	.	.	.	.	.	.	.	.	.	G	14.45	2.538055	0.45176	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.49720	1.45;0.8;0.77;0.8	6.08	-9.76	0.00503	.	1.007180	0.07974	N	0.984427	T	0.25791	0.0628	N	0.22421	0.69	0.09310	N	1	B;B;B	0.16603	0.007;0.018;0.018	B;B;B	0.15484	0.013;0.013;0.013	T	0.32161	-0.9917	10	0.59425	D	0.04	-0.0168	6.4653	0.21977	0.5785:0.1589:0.1872:0.0754	.	1049;818;683	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	C	1049;683;818;683	ENSP00000444617:G1049C;ENSP00000362781:G683C;ENSP00000424079:G818C;ENSP00000444914:G683C	ENSP00000362781:G683C	G	+	1	0	NHSL2	71277268	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-2.498000	0.00512	-0.905000	0.02835	GGC		0.562	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		3	72	1	0	1	1	1	3	72				
OR4X1	390113	broad.mit.edu	37	11	48285551	48285551	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr11:48285551A>T	ENST00000320048.1	+	1	139	c.139A>T	c.(139-141)Atc>Ttc	p.I47F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TGTGGTGACCATCCTGGCCAG	0.493																																						ENST00000320048.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(139-141)Atc>Ttc		olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)							178.0	159.0	166.0					11																	48285551		2201	4298	6499	SO:0001583	missense	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285551A>T	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.139A>T	11.37:g.48285551A>T	ENSP00000321506:p.Ile47Phe						p.I47F	NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN			1	139	+			47					Q6IF74	Missense_Mutation	SNP	ENST00000320048.1	37	c.139A>T	CCDS31487.1	.	.	.	.	.	.	.	.	.	.	A	9.029	0.986732	0.18889	.	.	ENSG00000176567	ENST00000320048	T	0.08546	3.08	4.29	-4.04	0.04010	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18467	0.0443	H	0.94886	3.595	0.09310	N	1	P	0.48503	0.911	B	0.41988	0.372	T	0.22556	-1.0213	9	0.87932	D	0	.	11.4936	0.50396	0.492:0.0:0.508:0.0	.	47	Q8NH49	OR4X1_HUMAN	F	47	ENSP00000321506:I47F	ENSP00000321506:I47F	I	+	1	0	OR4X1	48242127	0.000000	0.05858	0.003000	0.11579	0.058000	0.15608	-0.061000	0.11693	-0.662000	0.05338	0.460000	0.39030	ATC		0.493	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726		7	62	0	0	0	1	0	7	62				
CEP192	55125	broad.mit.edu	37	18	13100361	13100361	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr18:13100361T>G	ENST00000325971.8	+	36	6526	c.4933T>G	c.(4933-4935)Ttg>Gtg	p.L1645V	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.L2241V|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1645					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTAACTCGTTTGACCTCCAA	0.363																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6721-6723)Ttg>Gtg		centrosomal protein 192kDa							77.0	75.0	76.0					18																	13100361		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13100361T>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4933T>G	18.37:g.13100361T>G	ENSP00000317156:p.Leu1645Val					CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1766V|CEP192_ENST00000325971.8_Missense_Mutation_p.L1645V	p.L2241V	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6801	+			1836					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6721T>G		.	.	.	.	.	.	.	.	.	.	T	4.087	0.014049	0.07959	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06528	3.29;3.29;3.29	5.52	0.189	0.15119	.	1.695950	0.02940	N	0.140341	T	0.09291	0.0229	L	0.56769	1.78	0.09310	N	1	P;P;P;B	0.45827	0.867;0.604;0.744;0.001	P;B;B;B	0.44811	0.461;0.271;0.21;0.002	T	0.29088	-1.0023	10	0.21014	T	0.42	2.1655	3.4464	0.07482	0.1317:0.0839:0.4427:0.3417	.	1766;2241;245;843	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	V	2241;1645;1645;1766;245	ENSP00000427550:L2241V;ENSP00000317156:L1645V;ENSP00000389190:L1766V	ENSP00000317156:L1645V	L	+	1	2	CEP192	13090361	0.000000	0.05858	0.000000	0.03702	0.279000	0.26890	0.550000	0.23345	-0.118000	0.11851	-0.313000	0.08912	TTG		0.363	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		8	117	0	0	0	1	0	8	117				
STXBP5L	9515	broad.mit.edu	37	3	120628502	120628502	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:120628502G>A	ENST00000273666.6	+	2	348	c.77G>A	c.(76-78)aGt>aAt	p.S26N	STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	26					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAGTGGCAGTAACAGTGGT	0.478																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(76-78)aGt>aAt		syntaxin binding protein 5-like							46.0	54.0	52.0					3																	120628502		1912	4139	6051	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120628502G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.77G>A	3.37:g.120628502G>A	ENSP00000273666:p.Ser26Asn					STXBP5L_ENST00000472879.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S26N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S26N	p.S26N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	2	348	+			26					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.77G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415669	0.42817	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000495504;ENST00000471262	T;T;T;T;T;T;T	0.52526	1.72;1.73;1.52;1.03;1.5;0.66;1.74	5.04	2.1	0.27182	.	0.357947	0.24403	N	0.038821	T	0.24736	0.0600	N	0.08118	0	0.23107	N	0.998286	B;B	0.17667	0.023;0.023	B;B	0.18263	0.021;0.021	T	0.16512	-1.0400	10	0.28530	T	0.3	-28.0666	9.3173	0.37941	0.0:0.299:0.5462:0.1548	.	26;26	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	N	26	ENSP00000273666:S26N;ENSP00000420019:S26N;ENSP00000419627:S26N;ENSP00000420287:S26N;ENSP00000420666:S26N;ENSP00000419404:S26N;ENSP00000420167:S26N	ENSP00000273666:S26N	S	+	2	0	STXBP5L	122111192	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	2.009000	0.40903	0.250000	0.21479	0.650000	0.86243	AGT		0.478	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			3	66	0	0	0	1	0	3	66				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	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			3	190	0	0	0	1	0	3	190				
CSMD2	114784	broad.mit.edu	37	1	34180219	34180219	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr1:34180219C>T	ENST00000373381.4	-	21	3550	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1085	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTCCACAGGCGCCGTCTGCC	0.592																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(3373-3375)cGc>cAc		CUB and Sushi multiple domains 2							127.0	144.0	139.0					1																	34180219		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180219C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3374G>A	1.37:g.34180219C>T	ENSP00000362479:p.Arg1125His						p.R1125H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			21	3550	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1085			CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3374G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.424714	0.96111	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.91354	3.2	0.80722	D	1	D;D	0.89917	1.0;0.974	D;D	0.85130	0.997;0.978	T	0.81597	-0.0860	10	0.23302	T	0.38	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	1085;1125	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1125	ENSP00000362479:R1125H	ENSP00000241312:R1085H	R	-	2	0	CSMD2	33952806	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	CGC		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		20	341	0	0	0	1	0	20	341				
ZNF665	79788	broad.mit.edu	37	19	53668940	53668940	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:53668940C>T	ENST00000600412.1	-	2	723	c.608G>A	c.(607-609)gGc>gAc	p.G203D	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAGGCTTTGCCACACTCATT	0.393																																						ENST00000600412.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(607-609)gGc>gAc		zinc finger protein 665							122.0	131.0	128.0					19																	53668940		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668940C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.608G>A	19.37:g.53668940C>T	ENSP00000469154:p.Gly203Asp					ZNF665_ENST00000396424.3_Missense_Mutation_p.G268D	p.G203D			Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	723	-			203					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.608G>A		.	.	.	.	.	.	.	.	.	.	C	9.115	1.007516	0.19199	.	.	ENSG00000197497	ENST00000396424	T	0.20881	2.04	2.07	-1.76	0.08006	.	.	.	.	.	T	0.24586	0.0596	L	0.31420	0.93	0.09310	N	0.999999	D	0.63880	0.993	D	0.67900	0.954	T	0.14896	-1.0456	9	0.56958	D	0.05	.	3.2245	0.06728	0.1911:0.4318:0.0:0.3772	.	268	Q9H7R5-2	.	D	268	ENSP00000379702:G268D	ENSP00000379702:G268D	G	-	2	0	ZNF665	58360752	0.000000	0.05858	0.005000	0.12908	0.165000	0.22458	-1.020000	0.03618	-0.179000	0.10654	0.436000	0.28706	GGC		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		5	248	0	0	0	1	0	5	248				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	104	0	0	0	1	0	4	104				
COIL	8161	broad.mit.edu	37	17	55016500	55016500	+	Missense_Mutation	SNP	T	T	C	rs533878148		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr17:55016500T>C	ENST00000240316.4	-	7	1697	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E	RP5-1107A17.3_ENST00000572187.1_RNA	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	555	Tudor; atypical.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATCAACTCTTTCCAAAATACA	0.388													T|||	1	0.000199681	0.0	0.0	5008	,	,		17301	0.0		0.001	False		,,,				2504	0.0					ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(1663-1665)Aaa>Gaa		coilin							119.0	114.0	116.0					17																	55016500		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55016500T>C	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1663A>G	17.37:g.55016500T>C	ENSP00000240316:p.Lys555Glu						p.K555E	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			7	1697	-	Breast(9;6.15e-08)		555					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.1663A>G	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600898	0.28534	.	.	ENSG00000121058	ENST00000240316	T	0.35048	1.33	4.84	4.84	0.62591	.	0.333481	0.31872	N	0.006935	T	0.21468	0.0517	N	0.14661	0.345	0.21950	N	0.999451	B	0.02656	0.0	B	0.08055	0.003	T	0.11012	-1.0605	10	0.32370	T	0.25	-14.4845	10.9787	0.47482	0.0:0.0:0.0:1.0	.	555	P38432	COIL_HUMAN	E	555	ENSP00000240316:K555E	ENSP00000240316:K555E	K	-	1	0	COIL	52371499	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	1.545000	0.36169	2.173000	0.68751	0.533000	0.62120	AAA		0.388	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			6	141	0	0	0	1	0	6	141				
CXXC5	51523	broad.mit.edu	37	5	139060332	139060332	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr5:139060332G>A	ENST00000302517.3	+	2	938	c.224G>A	c.(223-225)cGc>cAc	p.R75H	CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	75					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGCGCCGCTCCCGCCCG	0.642																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(223-225)cGc>cAc		CXXC finger protein 5							57.0	75.0	69.0					5																	139060332		2105	4207	6312	SO:0001583	missense	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060332G>A	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.224G>A	5.37:g.139060332G>A	ENSP00000302543:p.Arg75His					CXXC5_ENST00000511048.1_Missense_Mutation_p.R75H	p.R75H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	938	+			75					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	ENST00000302517.3	37	c.224G>A	CCDS43370.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351655	0.61183	.	.	ENSG00000171604	ENST00000504944;ENST00000302517;ENST00000504844;ENST00000502336;ENST00000520967;ENST00000511048;ENST00000509238;ENST00000502716;ENST00000503511;ENST00000511457	.	.	.	5.41	4.42	0.53409	.	0.210247	0.39341	N	0.001399	T	0.29588	0.0738	N	0.19112	0.55	0.39473	D	0.96776	D	0.60160	0.987	P	0.45232	0.474	T	0.06110	-1.0845	8	.	.	.	-18.3037	4.0536	0.09806	0.2611:0.0:0.7389:0.0	.	75	Q7LFL8	CXXC5_HUMAN	H	75	.	.	R	+	2	0	CXXC5	139040516	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.438000	0.66550	2.531000	0.85337	0.561000	0.74099	CGC		0.642	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		4	129	0	0	0	1	0	4	129				
FSIP2	401024	broad.mit.edu	37	2	186671209	186671209	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr2:186671209G>A	ENST00000424728.1	+	17	17176	c.17176G>A	c.(17176-17178)Gca>Aca	p.A5726T	FSIP2_ENST00000343098.5_Missense_Mutation_p.A5815T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5726										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGGATTCGGCACAGTCTGT	0.368																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(17443-17445)Gca>Aca		fibrous sheath interacting protein 2							73.0	68.0	70.0					2																	186671209		1814	4070	5884	SO:0001583	missense	401024							g.chr2:186671209G>A	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17176G>A	2.37:g.186671209G>A	ENSP00000401306:p.Ala5726Thr					FSIP2_ENST00000424728.1_Missense_Mutation_p.A5726T	p.A5815T	NM_173651.2	NP_775922.2					17	17443	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.17443G>A		.	.	.	.	.	.	.	.	.	.	G	16.25	3.069320	0.55539	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.54479	0.57;0.58	4.88	-4.8	0.03190	.	.	.	.	.	T	0.27313	0.0670	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.21793	-1.0235	7	0.18276	T	0.48	.	2.705	0.05159	0.5025:0.1245:0.2463:0.1267	.	.	.	.	T	5815;5726	ENSP00000344403:A5815T;ENSP00000401306:A5726T	ENSP00000344403:A5815T	A	+	1	0	FSIP2	186379454	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.258000	0.02863	-1.221000	0.02591	-1.054000	0.02325	GCA		0.368	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		4	173	0	0	0	1	0	4	173				
BAMBI	25805	broad.mit.edu	37	10	28970195	28970195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr10:28970195C>T	ENST00000375533.3	+	2	641	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	29					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGGTGAAATTCGATGCTACTG	0.433																																						ENST00000375533.3																			0				central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						c.(85-87)Cga>Tga		BMP and activin membrane-bound inhibitor							93.0	90.0	91.0					10																	28970195		2203	4300	6503	SO:0001587	stop_gained	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970195C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.85C>T	10.37:g.28970195C>T	ENSP00000364683:p.Arg29*						p.R29*	NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN			2	641	+			29						Nonsense_Mutation	SNP	ENST00000375533.3	37	c.85C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	40	8.021380	0.98613	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.64	1.99	0.26369	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7832	0.69781	0.6988:0.3012:0.0:0.0	.	.	.	.	X	29	.	ENSP00000364683:R29X	R	+	1	2	BAMBI	29010201	0.995000	0.38212	0.998000	0.56505	0.986000	0.74619	1.636000	0.37144	0.524000	0.28502	0.655000	0.94253	CGA		0.433	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		3	83	0	0	0	1	0	3	83				
COL24A1	255631	broad.mit.edu	37	1	86250007	86250007	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr1:86250007T>C	ENST00000370571.2	-	49	4468	c.4102A>G	c.(4102-4104)Aga>Gga	p.R1368G	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1368	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGGTGACCTCTTTTACCTTGA	0.453																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(4102-4104)Aga>Gga		collagen, type XXIV, alpha 1							114.0	110.0	111.0					1																	86250007		1930	4133	6063	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86250007T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4102A>G	1.37:g.86250007T>C	ENSP00000359603:p.Arg1368Gly					COL24A1_ENST00000436319.1_Missense_Mutation_p.R1368G	p.R1368G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	49	4468	-			1368			Collagen-like 16.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4102A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.617128	0.46736	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94184	-3.2;-3.37	5.36	4.16	0.48862	.	0.000000	0.36374	N	0.002634	D	0.96405	0.8827	M	0.91249	3.19	0.48395	D	0.999641	D;D	0.71674	0.998;0.998	D;D	0.70487	0.954;0.969	D	0.96328	0.9241	10	0.52906	T	0.07	.	11.9821	0.53125	0.0:0.0:0.1447:0.8553	.	1368;1368	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	G	1368	ENSP00000359603:R1368G;ENSP00000392531:R1368G	ENSP00000359603:R1368G	R	-	1	2	COL24A1	86022595	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	3.256000	0.51492	2.034000	0.60081	0.482000	0.46254	AGA		0.453	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		3	117	0	0	0	1	0	3	117				
MUC4	4585	broad.mit.edu	37	3	195516162	195516162	+	Silent	SNP	T	T	G			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr3:195516162T>G	ENST00000463781.3	-	2	2748	c.2289A>C	c.(2287-2289)tcA>tcC	p.S763S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S763S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	768					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGTCAGGTGAGGTGCTGG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2287-2289)tcA>tcC		mucin 4, cell surface associated							71.0	81.0	78.0					3																	195516162		2162	4285	6447	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516162T>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2289A>C	3.37:g.195516162T>G						MUC4_ENST00000475231.1_Silent_p.S763S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.S763S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2748	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	768					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2289A>C	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		7	62	0	0	0	1	0	7	62				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	84	0	0	0	1	0	4	84				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		6	102	0	0	0	1	0	6	102				
ENPEP	2028	broad.mit.edu	37	4	111398002	111398002	+	Silent	SNP	C	C	T			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr4:111398002C>T	ENST00000265162.5	+	1	774	c.432C>T	c.(430-432)ctC>ctT	p.L144L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	144					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TCACCCGGCTCCCGGAGCTGA	0.622																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(430-432)ctC>ctT		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						68.0	79.0	75.0					4																	111398002		2203	4300	6503	SO:0001819	synonymous_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111398002C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.432C>T	4.37:g.111398002C>T							p.L144L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	774	+		Hepatocellular(203;0.217)	144					Q504U2	Silent	SNP	ENST00000265162.5	37	c.432C>T	CCDS3691.1																																																																																				0.622	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			19	202	0	0	0	1	0	19	202				
VPS13C	54832	broad.mit.edu	37	15	62305292	62305292	+	Silent	SNP	G	G	A			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr15:62305292G>A	ENST00000261517.5	-	11	844	c.771C>T	c.(769-771)gcC>gcT	p.A257A	VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395898.3_Silent_p.A214A|VPS13C_ENST00000395896.4_Silent_p.A257A	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATTCCAGTAGGCGCTAAGAC	0.348																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(769-771)gcC>gcT		vacuolar protein sorting 13 homolog C (S. cerevisiae)							78.0	73.0	74.0					15																	62305292		2203	4299	6502	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62305292G>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.771C>T	15.37:g.62305292G>A						VPS13C_ENST00000395898.3_Silent_p.A214A|VPS13C_ENST00000249837.3_Silent_p.A214A|VPS13C_ENST00000395896.4_Silent_p.A257A	p.A257A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			11	844	-			257						Silent	SNP	ENST00000261517.5	37	c.771C>T	CCDS32257.1																																																																																				0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		9	100	0	0	0	1	0	9	100				
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	170						7	170	---	---	---	---
LOC285692	285692	broad.mit.edu	37	5	9821412	9821414	+	lincRNA	DEL	CAC	CAC	-	rs377294449		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr5:9821412_9821414delCAC	ENST00000511616.1	-	0	521					NR_027112.2																						gactcaagcacaccaccaccACC	0.483																																						ENST00000511616.1																			0																																																			0							g.chr5:9821412_9821414delCAC																													5.37:g.9821421_9821423delCAC								NR_027112.2						0	521	-									RNA	DEL	ENST00000511616.1	37																																																																																						0.483	CTD-2143L24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365724.1			2	4						2	4	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr7:114271580_114271582delCAG	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393498.2_Intron			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114271580_114271582delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1CAG>-	7.37:g.114271589_114271591delCAG						FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	DEL	ENST00000393494.2	37		CCDS5760.1																																																																																				0.512	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4						2	4	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79984308	79984308	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr9:79984308delT	ENST00000360280.3	+	63	8907	c.8647delT	c.(8647-8649)tttfs	p.F2884fs	VPS13A_ENST00000376634.4_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.F2845fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2884					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGTAGAAGCATTTTTTTATGA	0.303																																						ENST00000360280.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(8647-8649)ttfs		vacuolar protein sorting 13 homolog A (S. cerevisiae)							142.0	145.0	144.0					9																	79984308		2202	4300	6502	SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79984308delT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8647delT	9.37:g.79984308delT	ENSP00000353422:p.Phe2884fs					VPS13A_ENST00000376634.4_Frame_Shift_Del_p.F2884fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.F2845fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.F2884fs	p.F2884fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN			63	8907	+			2884					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Del	DEL	ENST00000360280.3	37	c.8647delT	CCDS6655.1																																																																																				0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		7	204						7	204	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47359101	47359103	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr11:47359101_47359103delTCT	ENST00000545968.1	-	25	2495_2497	c.2441_2443delAGA	c.(2440-2445)aagagc>agc	p.K814del	MYBPC3_ENST00000256993.4_In_Frame_Del_p.K813del|MYBPC3_ENST00000399249.2_In_Frame_Del_p.K814del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	814	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CACCGGTAGCTCTTCTTCTTCTT	0.601																																						ENST00000545968.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42	GRCh37	CD021840	MYBPC3	D		c.(2440-2445)agc>a		myosin binding protein C, cardiac																																				SO:0001651	inframe_deletion	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47359101_47359103delTCT	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2441_2443delAGA	11.37:g.47359110_47359112delTCT	ENSP00000442795:p.Lys814del					MYBPC3_ENST00000399249.2_In_Frame_Del_p.KS814del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.KS813del	p.KS814del	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN		Lung(87;0.176)	25	2495_2497	-			813			Fibronectin type-III 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	In_Frame_Del	DEL	ENST00000545968.1	37	c.2441_2443delAGA	CCDS53621.1																																																																																				0.601	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			7	96						7	96	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		10	217						10	217	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81161713	81161713	+	RNA	DEL	A	A	-	rs113658800	byFrequency	TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	30093dfe-c178-4d68-b53d-fe766cf50cbd	g.chr16:81161713delA	ENST00000534142.1	-	0	432				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAATCAAAATAATCTTAACAC	0.438													AA|AA|A|deletion	1066	0.212859	0.1241	0.1844	5008	,	,		21979	0.377		0.1769	False		,,,				2504	0.2209					ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2				440,3070		64,312,1379	8.0	8.0	8.0			1.6	0.0	16	dbSNP_132	9	1070,6628		143,784,2922	no	intron	PKD1L2	NM_052892.3		207,1096,4301	A1A1,A1R,RR		13.8997,12.5356,13.4725			81161713	1510,9698	1790	3895	5685			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161713delA	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161713delA						PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	4099	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000534142.1	37																																																																																						0.438	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			4	2						4	2	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)agacaafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1366-1371)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128205_152128208delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1367_1370delGACA	1.37:g.152128213_152128216delTGTC	ENSP00000317895:p.Arg456fs						p.RQ456fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1431_1434	-			456			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1367_1370delGACA	CCDS41397.1																																																																																				0.520	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	1513						9	1513	---	---	---	---
LOC285692	285692	broad.mit.edu	37	5	9821412	9821414	+	lincRNA	DEL	CAC	CAC	-	rs377294449		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr5:9821412_9821414delCAC	ENST00000511616.1	-	0	521					NR_027112.2																						gactcaagcacaccaccaccACC	0.483																																						ENST00000511616.1																			0																																																			0							g.chr5:9821412_9821414delCAC																													5.37:g.9821421_9821423delCAC								NR_027112.2						0	521	-									RNA	DEL	ENST00000511616.1	37																																																																																						0.483	CTD-2143L24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000365724.1			2	4						2	4	---	---	---	---
ERICH1-AS1	619343	broad.mit.edu	37	8	844731	844732	+	RNA	INS	-	-	G	rs370162676		TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr8:844731_844732insG	ENST00000524139.1	+	0	151				ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA			P0C838	ERAS1_HUMAN	ERICH1 antisense RNA 1																		GGTGGCTGGCAGGGCAGGGTGG	0.713																																						ENST00000524139.1																			0																																																			0							g.chr8:844731_844732insG	BC022082, BC038783		8p23.3	2012-10-12	2012-08-15	2012-04-16	ENSG00000237647	ENSG00000237647		"""Long non-coding RNAs"""	32290	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 68"", ""ERICH1 antisense RNA 1 (non-protein coding)"""	C8orf68			Standard	NR_073397		Approved		uc003wpj.2	P0C838	OTTHUMG00000163635		8.37:g.844734_844734dupG						ERICH1-AS1_ENST00000522092.1_RNA|ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA								0	151	+									RNA	INS	ENST00000524139.1	37																																																																																						0.713	ERICH1-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000374625.1			2	4						2	4	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		10	217						10	217	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr14:99641544_99641546delCTC	ENST00000357195.3	-	4	1636_1638	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_ENST00000345514.2_In_Frame_Del_p.E472del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.7			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1414-1416)del		B-cell CLL/lymphoma 11B (zinc finger protein)			,	259,3515		17,225,1645					,	1.8	1.0			6	544,6744		46,452,3146	no	coding,coding	BCL11B	NM_138576.2,NM_022898.1	,	63,677,4791	A1A1,A1R,RR		7.4643,6.8627,7.2591	,	,		803,10259				SO:0001651	inframe_deletion	64919					nucleus	zinc ion binding	g.chr14:99641544_99641546delCTC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1627_1629delGAG	14.37:g.99641553_99641555delCTC	ENSP00000349723:p.Glu543del					BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	p.E472del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1680_1682	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	543					Q9H162	In_Frame_Del	DEL	ENST00000357195.3	37	c.1414_1416delGAG	CCDS9950.1																																																																																				0.700	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		2	4						2	4	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-BJ-A3PR-01A-11D-A21Z-08	TCGA-BJ-A3PR-11A-11D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afaf8f71-43ae-46dc-914c-8a51fe781ca4	92a61365-29b3-4b2e-840c-e69a3c72b2c8	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(22-27)ccc>c		sialic acid binding Ig-like lectin 8																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	89_91	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		8	131						8	131	---	---	---	---
