#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
RBP3	5949	broad.mit.edu	37	10	48390723	48390723	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:48390723A>G	ENST00000224600.4	-	1	268	c.155T>C	c.(154-156)aTc>aCc	p.I52T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	52	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCTGCTGGATGGCTTCCTG	0.597																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(154-156)aTc>aCc		retinol binding protein 3, interstitial	Vitamin A(DB00162)						65.0	57.0	60.0					10																	48390723		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390723A>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.155T>C	10.37:g.48390723A>G	ENSP00000224600:p.Ile52Thr						p.I52T	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	268	-			52			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.155T>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485866	0.84854	.	.	ENSG00000107618	ENST00000224600	T	0.63913	-0.07	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.83078	-0.0139	10	0.87932	D	0	-30.7367	15.1691	0.72854	1.0:0.0:0.0:0.0	.	52	P10745	RET3_HUMAN	T	52	ENSP00000224600:I52T	ENSP00000224600:I52T	I	-	2	0	RBP3	48010729	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.063000	0.76714	2.188000	0.69820	0.533000	0.62120	ATC		0.597	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		9	37	0	0	0	1	0	9	37				
DAGLA	747	broad.mit.edu	37	11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:61504739G>A	ENST00000257215.5	+	14	1573	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	486					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R486H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647																																						ENST00000257215.5																			1	Substitution - Missense(1)	p.R486H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1456-1458)cGc>cAc		diacylglycerol lipase, alpha							158.0	167.0	164.0					11																	61504739		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61504739G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1457G>A	11.37:g.61504739G>A	ENSP00000257215:p.Arg486His						p.R486H	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	14	1573	+			486					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1457G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.919111	0.92249	.	.	ENSG00000134780	ENST00000257215	T	0.32515	1.45	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	L	0.58354	1.805	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.55211	-0.8176	10	0.52906	T	0.07	-26.5472	16.264	0.82565	0.0:0.0:1.0:0.0	.	486	Q9Y4D2	DGLA_HUMAN	H	486	ENSP00000257215:R486H	ENSP00000257215:R486H	R	+	2	0	DAGLA	61261315	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	9.128000	0.94424	1.898000	0.54952	0.306000	0.20318	CGC		0.647	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		16	253	0	0	0	1	0	16	253				
RCBTB2	1102	broad.mit.edu	37	13	49070412	49070412	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:49070412T>C	ENST00000344532.3	-	14	1853	c.1430A>G	c.(1429-1431)aAg>aGg	p.K477R	RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	477					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTGGCAGAGCTTTTTCAAACG	0.463																																						ENST00000344532.3																			0				breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31						c.(1429-1431)aAg>aGg		regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2							108.0	102.0	104.0					13																	49070412		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49070412T>C	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1430A>G	13.37:g.49070412T>C	ENSP00000345144:p.Lys477Arg					RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R|RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R	p.K477R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	14	1853	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	477					B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1430A>G	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	t	13.99	2.400658	0.42613	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.67698	-0.28;-0.28;-0.28	5.04	5.04	0.67666	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.092241	0.85682	D	0.000000	T	0.45013	0.1321	N	0.05619	-0.005	0.80722	D	1	B;B;B;B	0.14805	0.011;0.001;0.011;0.001	B;B;B;B	0.23150	0.044;0.019;0.015;0.019	T	0.38112	-0.9676	10	0.27082	T	0.32	.	10.3447	0.43899	0.0:0.0777:0.0:0.9222	.	203;482;429;477	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	R	477;429;482;482;203	ENSP00000345144:K477R;ENSP00000389910:K482R;ENSP00000443862:K203R	ENSP00000345144:K477R	K	-	2	0	RCBTB2	47968413	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.644000	0.61397	2.021000	0.59480	0.456000	0.33151	AAG		0.463	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		8	46	0	0	0	1	0	8	46				
CLSTN3	9746	broad.mit.edu	37	12	7302188	7302188	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:7302188A>G	ENST00000266546.6	+	14	2594	c.2144A>G	c.(2143-2145)gAt>gGt	p.D715G	CLSTN3_ENST00000537408.1_Missense_Mutation_p.D727G	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	715					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.D715V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTGGTGGGGGATGACCTGGAT	0.567																																						ENST00000537408.1																			1	Substitution - Missense(1)	p.D715V(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2179-2181)gAt>gGt		calsyntenin 3							89.0	80.0	83.0					12																	7302188		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7302188A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2144A>G	12.37:g.7302188A>G	ENSP00000266546:p.Asp715Gly					CLSTN3_ENST00000266546.6_Missense_Mutation_p.D715G	p.D727G			Q9BQT9	CSTN3_HUMAN			13	2718	+			715					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2180A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370346	0.61624	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.32272	1.46;1.46	5.67	5.67	0.87782	.	0.056408	0.64402	D	0.000001	T	0.24470	0.0593	N	0.24115	0.695	0.58432	D	0.999992	P;B	0.47762	0.9;0.002	B;B	0.42214	0.38;0.009	T	0.02574	-1.1139	10	0.46703	T	0.11	-23.6603	14.4848	0.67609	1.0:0.0:0.0:0.0	.	727;715	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	G	715;727	ENSP00000266546:D715G;ENSP00000440679:D727G	ENSP00000266546:D715G	D	+	2	0	CLSTN3	7193455	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.982000	0.93471	2.161000	0.67846	0.459000	0.35465	GAT		0.567	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		4	36	0	0	0	1	0	4	36				
UTY	7404	broad.mit.edu	37	Y	15410959	15410959	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrY:15410959A>G	ENST00000331397.4	-	24	4462	c.3455T>C	c.(3454-3456)gTc>gCc	p.V1152A	UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A|UTY_ENST00000362096.4_Missense_Mutation_p.V1152A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1152	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATACACAGGGACATTTGCTTC	0.383																																					Colon(103;1740 2135 40732 45171)	ENST00000331397.4																			0				kidney(1)|lung(6)	7						c.(3454-3456)gTc>gCc		ubiquitously transcribed tetratricopeptide repeat containing, Y-linked							58.0	60.0	59.0					Y																	15410959		590	1925	2515	SO:0001583	missense	7404				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrY:15410959A>G	AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"""Tetratricopeptide (TTC) repeat domain containing"""	12638	protein-coding gene	gene with protein product		400009	"""ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome"", ""ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"""			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.3455T>C	Y.37:g.15410959A>G	ENSP00000328939:p.Val1152Ala					UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A|UTY_ENST00000362096.4_Missense_Mutation_p.V1152A	p.V1152A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN			24	4462	-			1152			JmjC.		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	ENST00000331397.4	37	c.3455T>C	CCDS14783.1																																																																																				0.383	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088394.1	NM_182660		15	7	0	0	0	1	0	15	7				
TNRC6A	27327	broad.mit.edu	37	16	24788379	24788379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788379C>T	ENST00000395799.3	+	5	418	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	97	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gcagccacagcagcagcagca	0.602																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(289-291)Cag>Tag		trinucleotide repeat containing 6A							25.0	34.0	31.0					16																	24788379		2146	4247	6393	SO:0001587	stop_gained	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788379C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.289C>T	16.37:g.24788379C>T	ENSP00000379144:p.Gln97*					TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97*	p.Q97*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	418	+			97			Gln-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Nonsense_Mutation	SNP	ENST00000395799.3	37	c.289C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	17.19	3.327533	0.60743	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	.	.	.	4.44	4.44	0.53790	.	0.131961	0.34507	N	0.003914	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-0.0368	12.883	0.58028	0.0:1.0:0.0:0.0	.	.	.	.	X	97	.	ENSP00000326900:Q97X	Q	+	1	0	TNRC6A	24695880	1.000000	0.71417	0.080000	0.20451	0.679000	0.39708	3.892000	0.56235	2.757000	0.94681	0.591000	0.81541	CAG		0.602	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	22	0	0	0	1	0	11	22				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	18	0	0	0	1	0	27	18				
FNBP1	23048	broad.mit.edu	37	9	132757223	132757223	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr9:132757223G>C	ENST00000446176.2	-	2	225	c.39C>G	c.(37-39)aaC>aaG	p.N13K	FNBP1_ENST00000420781.1_Missense_Mutation_p.N13K|FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	13	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTTTTTCTAAGTTGTCAAACT	0.333			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.(37-39)aaC>aaG		formin binding protein 1							170.0	166.0	167.0					9																	132757223		1822	4081	5903	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132757223G>C	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.39C>G	9.37:g.132757223G>C	ENSP00000413625:p.Asn13Lys					FNBP1_ENST00000446176.2_Missense_Mutation_p.N13K|FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K	p.N13K			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	2	257	-		Ovarian(14;0.000536)	13			FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.39C>G	CCDS48040.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571834	0.45798	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.15952	2.38;2.38;2.38	5.55	3.7	0.42460	Fps/Fes/Fer/CIP4 homology (3);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.64170	1.965	0.80722	D	1	B;P;B;B;P	0.41643	0.388;0.758;0.383;0.096;0.758	B;P;B;B;P	0.54544	0.268;0.755;0.248;0.16;0.755	T	0.01848	-1.1261	10	0.41790	T	0.15	-30.8745	10.2676	0.43464	0.2166:0.0:0.7834:0.0	.	13;13;13;13;13	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q96RU3	.;.;.;.;FNBP1_HUMAN	K	13	ENSP00000413625:N13K;ENSP00000407548:N13K;ENSP00000347907:N13K	ENSP00000347907:N13K	N	-	3	2	FNBP1	131797044	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.836000	0.62789	1.332000	0.45431	0.563000	0.77884	AAC		0.333	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			23	82	0	0	0	1	0	23	82				
ESPN	83715	broad.mit.edu	37	1	6488429	6488429	+	Silent	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:6488429C>T	ENST00000377828.1	+	2	606	c.438C>T	c.(436-438)gcC>gcT	p.A146A	MIR4252_ENST00000585139.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	146					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACTACGCTGCCGCCAAAGGAG	0.647																																						ENST00000377828.1																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(436-438)gcC>gcT		espin							49.0	53.0	52.0					1																	6488429		2202	4300	6502	SO:0001819	synonymous_variant	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6488429C>T	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.438C>T	1.37:g.6488429C>T							p.A146A	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	2	606	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	146					Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	ENST00000377828.1	37	c.438C>T	CCDS70.1																																																																																				0.647	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	NM_031475		3	36	0	0	0	1	0	3	36				
EMR2	30817	broad.mit.edu	37	19	14876167	14876167	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:14876167C>G	ENST00000315576.3	-	10	1322	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EMR2_ENST00000392965.3_Missense_Mutation_p.D291H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	291					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGCTTGTAGTCTCTGCCCAGG	0.602																																						ENST00000315576.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(871-873)Gac>Cac		egf-like module containing, mucin-like, hormone receptor-like 2							129.0	115.0	120.0					19																	14876167		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14876167C>G	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.871G>C	19.37:g.14876167C>G	ENSP00000319883:p.Asp291His					EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000392965.3_Missense_Mutation_p.D291H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H	p.D291H	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN			10	1322	-			291					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.871G>C	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177966	0.38413	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.80123	-1.02;-1.18;-0.51;0.31;0.96;-1.34;1.22;-1.21	3.84	-2.99	0.05497	.	.	.	.	.	T	0.69628	0.3132	L	0.47716	1.5	0.09310	N	0.999999	B;B;B;B;B;B;B;B	0.23377	0.006;0.004;0.037;0.012;0.004;0.022;0.005;0.084	B;B;B;B;B;B;B;B	0.23419	0.005;0.009;0.01;0.015;0.009;0.02;0.006;0.046	T	0.60052	-0.7338	9	0.66056	D	0.02	.	4.4369	0.11555	0.0:0.3282:0.1755:0.4963	.	291;198;291;149;242;291;291;291	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	H	291;291;242;198;149;291;30;242	ENSP00000319883:D291H;ENSP00000376694:D291H;ENSP00000263380:D242H;ENSP00000319454:D198H;ENSP00000319838:D149H;ENSP00000376692:D291H;ENSP00000376691:D30H;ENSP00000376689:D242H	ENSP00000319883:D291H	D	-	1	0	EMR2	14737167	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.763000	0.01802	-0.314000	0.08716	0.388000	0.25769	GAC		0.602	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			5	91	0	0	0	1	0	5	91				
CLUH	23277	broad.mit.edu	37	17	2605307	2605307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:2605307G>A	ENST00000570628.2	-	4	511	c.406C>T	c.(406-408)Cga>Tga	p.R136*	CLUH_ENST00000435359.1_Nonsense_Mutation_p.R136*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.R136*			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	136					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											AGCAGGTCTCGGACATGGCGC	0.627																																						ENST00000570628.1																			0											c.(406-408)Cga>Tga		clustered mitochondria (cluA/CLU1) homolog							60.0	68.0	65.0					17																	2605307		2149	4230	6379	SO:0001587	stop_gained	23277							g.chr17:2605307G>A	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.406C>T	17.37:g.2605307G>A	ENSP00000458986:p.Arg136*					CLUH_ENST00000575014.1_Nonsense_Mutation_p.R68*|CLUH_ENST00000538975.1_Nonsense_Mutation_p.R136*|CLUH_ENST00000435359.1_Nonsense_Mutation_p.R136*	p.R136*							4	511	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Nonsense_Mutation	SNP	ENST00000570628.2	37	c.406C>T	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375609	0.82682	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	.	.	.	5.25	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5048	0.67746	0.0:0.0:0.8528:0.1472	.	.	.	.	X	136	.	ENSP00000320468:R136X	R	-	1	2	KIAA0664	2552057	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.220000	0.51207	1.203000	0.43233	0.591000	0.81541	CGA		0.627	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		11	16	0	0	0	1	0	11	16				
CEP95	90799	broad.mit.edu	37	17	62518886	62518886	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:62518886T>G	ENST00000556440.2	+	8	1292	c.782T>G	c.(781-783)aTt>aGt	p.I261S	CEP95_ENST00000553412.1_Missense_Mutation_p.I97S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	261						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CGAGCAGCTATTCCTTTACAT	0.483																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(781-783)aTt>aGt		centrosomal protein 95kDa							96.0	95.0	95.0					17																	62518886		1900	4118	6018	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62518886T>G	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.782T>G	17.37:g.62518886T>G	ENSP00000450461:p.Ile261Ser					CEP95_ENST00000553412.1_Missense_Mutation_p.I97S	p.I261S	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			8	1292	+			261					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.782T>G	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883503	0.72410	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.50277	0.8;0.75	5.73	5.73	0.89815	.	0.237105	0.42964	D	0.000626	T	0.66137	0.2759	M	0.70275	2.135	0.46298	D	0.998978	D	0.76494	0.999	D	0.64877	0.93	T	0.70096	-0.4966	10	0.87932	D	0	-8.6411	14.5846	0.68315	0.0:0.0:0.0:1.0	.	261	Q96GE4	CEP95_HUMAN	S	196;261;97	ENSP00000450461:I261S;ENSP00000450906:I97S	ENSP00000438458:I196S	I	+	2	0	CEP95	59949348	1.000000	0.71417	0.993000	0.49108	0.511000	0.34104	5.430000	0.66501	2.191000	0.70037	0.482000	0.46254	ATT		0.483	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		4	40	0	0	0	1	0	4	40				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	45	0	0	0	1	0	3	45				
ACD	65057	broad.mit.edu	37	16	67694142	67694142	+	Silent	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:67694142C>T	ENST00000393919.4	-	1	504	c.240G>A	c.(238-240)ccG>ccA	p.P80P	PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Silent_p.P80P|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000602551.1_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	80					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTACACCCAGCGGATGCAACG	0.706																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(238-240)ccG>ccA		adrenocortical dysplasia homolog (mouse)							28.0	37.0	34.0					16																	67694142		2163	4272	6435	SO:0001819	synonymous_variant	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694142C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.240G>A	16.37:g.67694142C>T						ACD_ENST00000393919.4_Silent_p.P80P	p.P80P	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	571	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	80					Q562H5|Q9H8F9	Silent	SNP	ENST00000393919.4	37	c.240G>A	CCDS42181.1																																																																																				0.706	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		3	44	0	0	0	1	0	3	44				
TAOK3	51347	broad.mit.edu	37	12	118693346	118693346	+	Silent	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:118693346T>C	ENST00000392533.3	-	3	517	c.27A>G	c.(25-27)ccA>ccG	p.P9P	TAOK3_ENST00000419821.2_Silent_p.P9P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	9					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAATCTCTGGGTCCTTCA	0.398																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(25-27)ccA>ccG		TAO kinase 3							135.0	136.0	136.0					12																	118693346		2203	4300	6503	SO:0001819	synonymous_variant	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118693346T>C	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.27A>G	12.37:g.118693346T>C						TAOK3_ENST00000419821.2_Silent_p.P9P	p.P9P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			3	517	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		9					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	ENST00000392533.3	37	c.27A>G	CCDS9188.1																																																																																				0.398	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		10	97	0	0	0	1	0	10	97				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			10	31	0	0	0	1	0	10	31				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	41	0	0	0	1	0	3	41				
SLC29A3	55315	broad.mit.edu	37	10	73122070	73122070	+	Missense_Mutation	SNP	C	C	T	rs564770014		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:73122070C>T	ENST00000373189.5	+	6	1185	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	378					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AATAGCAAGGCGCTCCCAGGG	0.602																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1132-1134)gCg>gTg		solute carrier family 29 (equilibrative nucleoside transporter), member 3							132.0	127.0	129.0					10																	73122070		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73122070C>T	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1133C>T	10.37:g.73122070C>T	ENSP00000362285:p.Ala378Val					SLC29A3_ENST00000469204.1_3'UTR	p.A378V	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			6	1185	+			378					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.1133C>T	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519313	0.27211	.	.	ENSG00000198246	ENST00000373189	T	0.62364	0.03	5.8	1.98	0.26296	.	0.939427	0.09006	N	0.862263	T	0.29028	0.0721	N	0.00841	-1.15	0.22479	N	0.999068	B	0.02656	0.0	B	0.04013	0.001	T	0.31308	-0.9948	9	0.16896	T	0.51	-4.5948	8.9442	0.35749	0.0:0.2255:0.0:0.7745	.	378	Q9BZD2	S29A3_HUMAN	V	378	ENSP00000362285:A378V	ENSP00000362285:A378V	A	+	2	0	SLC29A3	72792076	1.000000	0.71417	0.636000	0.29352	0.339000	0.28857	2.870000	0.48451	0.121000	0.18284	-0.290000	0.09829	GCG		0.602	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		30	52	0	0	0	1	0	30	52				
MARC2	54996	broad.mit.edu	37	1	220936309	220936309	+	Silent	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:220936309T>C	ENST00000366913.3	+	4	865	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	MARC2_ENST00000359316.2_Silent_p.L223L	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	223	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCTGGTAGATTTGAATACCAG	0.502																																						ENST00000366913.3																			0											c.(667-669)Ttg>Ctg		mitochondrial amidoxime reducing component 2							111.0	111.0	111.0					1																	220936309		2203	4300	6503	SO:0001819	synonymous_variant	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220936309T>C		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.667T>C	1.37:g.220936309T>C						MARC2_ENST00000359316.2_Silent_p.L223L	p.L223L	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN			4	865	+			223			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Silent	SNP	ENST00000366913.3	37	c.667T>C	CCDS1525.1																																																																																				0.502	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		8	38	0	0	0	1	0	8	38				
ATRX	546	broad.mit.edu	37	X	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1426*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAATACGTCGCCTTTTCTTT	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R1426*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4276-4278)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						236.0	201.0	213.0					X																	76909629		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76909629G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4276C>T	X.37:g.76909629G>A	ENSP00000362441:p.Arg1426*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	p.R1426*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			14	4490	-			1426					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.4276C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	44	11.200502	0.99530	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.41	3.6	0.41247	.	0.079753	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8333	13.0038	0.58692	0.0:0.0:0.397:0.603	.	.	.	.	X	1426;1388	.	ENSP00000362441:R1426X	R	-	1	2	ATRX	76796285	0.991000	0.36638	0.982000	0.44146	0.683000	0.39861	1.747000	0.38298	0.544000	0.28883	0.502000	0.49764	CGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		22	20	0	0	0	1	0	22	20				
OR5P3	120066	broad.mit.edu	37	11	7847281	7847281	+	Missense_Mutation	SNP	A	A	G	rs531151076	byFrequency	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847281A>G	ENST00000328375.1	-	1	238	c.239T>C	c.(238-240)gTc>gCc	p.V80A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGAGCATGACAGGTGTGAC	0.478																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(238-240)gTc>gCc		olfactory receptor, family 5, subfamily P, member 3							126.0	123.0	124.0					11																	7847281		2188	4296	6484	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847281A>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.239T>C	11.37:g.7847281A>G	ENSP00000332068:p.Val80Ala					RP11-35J10.5_ENST00000527565.1_lincRNA	p.V80A	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	238	-			80					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.239T>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539500	0.27563	.	.	ENSG00000182334	ENST00000328375	T	0.01323	5.01	5.28	-3.8	0.04307	GPCR, rhodopsin-like superfamily (1);	0.569035	0.14402	U	0.321831	T	0.01061	0.0035	N	0.12569	0.235	0.09310	N	1	B	0.34264	0.446	B	0.29524	0.103	T	0.38329	-0.9666	10	0.87932	D	0	-15.9267	16.1303	0.81428	0.163:0.0:0.0:0.837	.	80	Q8WZ94	OR5P3_HUMAN	A	80	ENSP00000332068:V80A	ENSP00000332068:V80A	V	-	2	0	OR5P3	7803857	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.471000	0.06631	-0.893000	0.03930	-1.474000	0.01003	GTC		0.478	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		10	33	0	0	0	1	0	10	33				
TENM4	26011	broad.mit.edu	37	11	78380316	78380316	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:78380316T>C	ENST00000278550.7	-	32	7536	c.7074A>G	c.(7072-7074)atA>atG	p.I2358M		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2358					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGTCACAAGCTATGTAAAACT	0.483																																						ENST00000278550.7																			0											c.(7072-7074)atA>atG		teneurin transmembrane protein 4							139.0	141.0	141.0					11																	78380316		2057	4216	6273	SO:0001583	missense	26011							g.chr11:78380316T>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7074A>G	11.37:g.78380316T>C	ENSP00000278550:p.Ile2358Met						p.I2358M	NM_001098816.2	NP_001092286.2					32	7536	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.7074A>G	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806986	0.31961	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90732	-2.72;0.75	5.14	-8.25	0.01025	.	0.052638	0.64402	D	0.000001	D	0.85643	0.5744	M	0.71036	2.16	0.29303	N	0.868579	P	0.46395	0.877	B	0.42462	0.388	T	0.81127	-0.1074	9	.	.	.	.	10.3264	0.43796	0.2915:0.0:0.473:0.2355	.	2358	Q6N022	TEN4_HUMAN	M	2358;822	ENSP00000278550:I2358M;ENSP00000431711:I822M	.	I	-	3	3	ODZ4	78057964	0.039000	0.19947	0.875000	0.34327	0.962000	0.63368	-0.807000	0.04520	-1.461000	0.01909	-2.426000	0.00216	ATA		0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			4	85	0	0	0	1	0	4	85				
CIRH1A	84916	broad.mit.edu	37	16	69199373	69199373	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:69199373C>G	ENST00000314423.7	+	15	1954	c.1777C>G	c.(1777-1779)Ccg>Gcg	p.P593A	CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A|CIRH1A_ENST00000563094.1_Missense_Mutation_p.P593A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	593					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TCCCAAGAGACCGATGCACAT	0.463																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000563094.1																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1777-1779)Ccg>Gcg		cirrhosis, autosomal recessive 1A (cirhin)							189.0	146.0	160.0					16																	69199373		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69199373C>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1777C>G	16.37:g.69199373C>G	ENSP00000327179:p.Pro593Ala					CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A|CIRH1A_ENST00000314423.7_Missense_Mutation_p.P593A	p.P593A			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1811	+			593					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1777C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012832	0.54468	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.30714	1.52;2.29	6.17	5.22	0.72569	.	0.101143	0.64402	N	0.000001	T	0.35364	0.0929	M	0.73598	2.24	0.48185	D	0.999607	B;B	0.29909	0.261;0.197	B;B	0.29524	0.091;0.103	T	0.20338	-1.0278	10	0.52906	T	0.07	.	12.0943	0.53747	0.1357:0.7336:0.1307:0.0	.	593;593	Q969X6;Q969X6-3	CIR1A_HUMAN;.	A	593;478	ENSP00000327179:P593A;ENSP00000339164:P478A	ENSP00000327179:P593A	P	+	1	0	CIRH1A	67756874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.031000	0.64134	1.611000	0.50210	0.655000	0.94253	CCG		0.463	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		11	37	0	0	0	1	0	11	37				
TMEM79	84283	broad.mit.edu	37	1	156255699	156255699	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:156255699C>T	ENST00000405535.2	+	2	853	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	228					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGATGTCCCACGGCTGCCCAC	0.607																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(682-684)Cgg>Tgg		transmembrane protein 79							109.0	112.0	111.0					1																	156255699		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255699C>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.682C>T	1.37:g.156255699C>T	ENSP00000384748:p.Arg228Trp					TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Intron	p.R228W	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			2	853	+	Hepatocellular(266;0.158)		228					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.682C>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795652	0.70452	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.52983	0.64;0.64	5.29	3.37	0.38596	.	0.404728	0.25666	N	0.029119	T	0.27524	0.0676	N	0.14661	0.345	0.38224	D	0.940837	D	0.76494	0.999	P	0.56700	0.804	T	0.14476	-1.0471	10	0.49607	T	0.09	-5.1614	8.6431	0.33989	0.157:0.7628:0.0:0.0802	.	228	Q9BSE2	TMM79_HUMAN	W	228	ENSP00000295694:R228W;ENSP00000384748:R228W	ENSP00000295694:R228W	R	+	1	2	TMEM79	154522323	0.946000	0.32159	0.738000	0.30950	0.987000	0.75469	2.080000	0.41586	0.746000	0.32786	0.561000	0.74099	CGG		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		45	112	0	0	0	1	0	45	112				
FAM124A	220108	broad.mit.edu	37	13	51825995	51825995	+	Silent	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:51825995C>T	ENST00000322475.8	+	3	627	c.492C>T	c.(490-492)ccC>ccT	p.P164P	FAM124A_ENST00000280057.6_Silent_p.P200P	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	164										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCCGGCCCGTGCACTACG	0.632																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(490-492)ccC>ccT		family with sequence similarity 124A							24.0	23.0	24.0					13																	51825995		2202	4300	6502	SO:0001819	synonymous_variant	220108							g.chr13:51825995C>T	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.492C>T	13.37:g.51825995C>T						FAM124A_ENST00000280057.6_Silent_p.P200P	p.P164P	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	627	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	164					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	ENST00000322475.8	37	c.492C>T	CCDS55900.1																																																																																				0.632	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		4	6	0	0	0	1	0	4	6				
TNRC6A	27327	broad.mit.edu	37	16	24788378	24788378	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788378G>T	ENST00000395799.3	+	5	417	c.288G>T	c.(286-288)caG>caT	p.Q96H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	96	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agcagccacagcagcagcagc	0.597																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(286-288)caG>caT		trinucleotide repeat containing 6A							26.0	34.0	31.0					16																	24788378		2153	4253	6406	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24788378G>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.288G>T	16.37:g.24788378G>T	ENSP00000379144:p.Gln96His					TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H	p.Q96H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	5	417	+			96			Gln-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.288G>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	9.708	1.156349	0.21454	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.13196	2.66;2.61	4.55	1.53	0.23141	.	0.486389	0.19060	N	0.123789	T	0.09949	0.0244	L	0.38175	1.15	0.22378	N	0.999153	B	0.31790	0.34	B	0.30855	0.121	T	0.20538	-1.0272	10	0.59425	D	0.04	4.9027	6.5609	0.22485	0.2982:0.0:0.7018:0.0	.	96	Q8NDV7	TNR6A_HUMAN	H	96	ENSP00000326900:Q96H;ENSP00000379144:Q96H	ENSP00000326900:Q96H	Q	+	3	2	TNRC6A	24695879	0.997000	0.39634	0.066000	0.19879	0.696000	0.40369	1.074000	0.30703	0.409000	0.25649	0.591000	0.81541	CAG		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		11	23	1	0	5.50884e-06	1	5.89317e-06	11	23				
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr7:114270018G>A	ENST00000393494.2	+	5	834	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393500.3_Silent_p.Q110Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				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.Q210Q(2)		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						agcagcaacagcagcagcagc	0.502																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	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.(328-330)caG>caA		forkhead box P2							48.0	44.0	45.0					7																	114270018		2197	4288	6485	SO:0001819	synonymous_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.chr7:114270018G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.555G>A	7.37:g.114270018G>A						FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q	p.Q110Q			O15409	FOXP2_HUMAN			11	1150	+			185			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.330G>A	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		5	31	0	0	0	1	0	5	31				
CHRNA6	8973	broad.mit.edu	37	8	42620342	42620342	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:42620342C>T	ENST00000276410.2	-	2	440	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	29					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	GCACAGCCCACACAGCCTGTG	0.562																																						ENST00000276410.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22						c.(85-87)Gtg>Atg		cholinergic receptor, nicotinic, alpha 6 (neuronal)							118.0	110.0	113.0					8																	42620342		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42620342C>T	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.85G>A	8.37:g.42620342C>T	ENSP00000276410:p.Val29Met					CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M	p.V29M	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		2	440	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	29					B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.85G>A	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	C	8.719	0.914001	0.17907	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	T;T	0.79352	-1.26;-1.26	5.09	3.27	0.37495	.	0.791479	0.12296	N	0.481606	T	0.59183	0.2175	N	0.08118	0	0.09310	N	1	B;B	0.25667	0.131;0.04	B;B	0.28638	0.092;0.03	T	0.49735	-0.8908	10	0.34782	T	0.22	.	9.0653	0.36460	0.0:0.8154:0.0:0.1846	.	29;29	B4DQH1;Q15825	.;ACHA6_HUMAN	M	29	ENSP00000276410:V29M;ENSP00000433871:V29M	ENSP00000276410:V29M	V	-	1	0	CHRNA6	42739499	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.404000	0.07205	0.631000	0.30412	-0.140000	0.14226	GTG		0.562	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			25	66	0	0	0	1	0	25	66				
DSG2	1829	broad.mit.edu	37	18	29126613	29126613	+	Silent	SNP	T	T	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr18:29126613T>C	ENST00000261590.8	+	15	3473	c.3264T>C	c.(3262-3264)ttT>ttC	p.F1088F	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1088					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCCAGATTTTGGTTTAGAGG	0.473																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(3262-3264)ttT>ttC		desmoglein 2							83.0	81.0	82.0					18																	29126613		1937	4142	6079	SO:0001819	synonymous_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126613T>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.3264T>C	18.37:g.29126613T>C						RP11-75N4.2_ENST00000583706.1_RNA	p.F1088F	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3473	+			1088					Q4KKU6	Silent	SNP	ENST00000261590.8	37	c.3264T>C	CCDS42423.1																																																																																				0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		6	49	0	0	0	1	0	6	49				
RIMBP2	23504	broad.mit.edu	37	12	130898840	130898840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:130898840G>A	ENST00000261655.4	-	14	2645	c.2482C>T	c.(2482-2484)Cga>Tga	p.R828*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	828					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCGGTCTCGCCCGTAATCG	0.567																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2482-2484)Cga>Tga		RIMS binding protein 2							56.0	63.0	61.0					12																	130898840		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130898840G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2482C>T	12.37:g.130898840G>A	ENSP00000261655:p.Arg828*						p.R828*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	14	2645	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	828					Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.2482C>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	41	8.955794	0.99016	.	.	ENSG00000060709	ENST00000261655	.	.	.	4.49	3.56	0.40772	.	0.241250	0.34245	N	0.004126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-0.8212	13.4904	0.61390	0.0:0.0:0.8295:0.1705	.	.	.	.	X	828	.	ENSP00000261655:R828X	R	-	1	2	RIMBP2	129464793	0.991000	0.36638	0.040000	0.18447	0.383000	0.30230	5.335000	0.65929	0.919000	0.36945	0.650000	0.86243	CGA		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		18	27	0	0	0	1	0	18	27				
ZNF860	344787	broad.mit.edu	37	3	32031226	32031226	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:32031226C>G	ENST00000360311.4	+	2	1204	c.655C>G	c.(655-657)Cta>Gta	p.L219V		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	219					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)|lung(4)|ovary(1)	8						ATTACTCACACTAAAACAGGA	0.333																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(655-657)Cta>Gta		zinc finger protein 860							50.0	37.0	41.0					3																	32031226		692	1590	2282	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031226C>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.655C>G	3.37:g.32031226C>G	ENSP00000373274:p.Leu219Val						p.L219V	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1204	+			219					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.655C>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560376	0.03939	.	.	ENSG00000197385	ENST00000360311	T	0.28069	1.63	0.345	0.345	0.16011	.	.	.	.	.	T	0.11965	0.0291	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	8	.	.	.	.	6.4437	0.21865	0.0:0.9998:0.0:2.0E-4	.	219	A6NHJ4	ZN860_HUMAN	V	219	ENSP00000373274:L219V	.	L	+	1	2	ZNF860	32006230	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-0.997000	0.03705	0.392000	0.25172	0.393000	0.25936	CTA		0.333	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			7	34	0	0	0	1	0	7	34				
UBA2	10054	broad.mit.edu	37	19	34929585	34929585	+	Silent	SNP	G	G	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:34929585G>A	ENST00000246548.4	+	6	565	c.495G>A	c.(493-495)ccG>ccA	p.P165P	UBA2_ENST00000439527.2_Silent_p.P69P	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	165					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCTAAGCCGACCCAGAGAA	0.403																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(205-207)ccG>ccA		ubiquitin-like modifier activating enzyme 2							239.0	210.0	220.0					19																	34929585		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34929585G>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.495G>A	19.37:g.34929585G>A						UBA2_ENST00000246548.4_Silent_p.P165P	p.P69P			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		6	705	+	Esophageal squamous(110;0.162)		165					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.207G>A	CCDS12439.1																																																																																				0.403	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		27	83	0	0	0	1	0	27	83				
DDIAS	220042	broad.mit.edu	37	11	82644345	82644345	+	Silent	SNP	A	A	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:82644345A>G	ENST00000533655.1	+	6	2177	c.1965A>G	c.(1963-1965)ggA>ggG	p.G655G	C11orf82_ENST00000430323.2_Silent_p.G655G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G354G	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		655					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGCCTTGGGGACATATCAATA	0.343																																						ENST00000533655.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						c.(1963-1965)ggA>ggG		chromosome 11 open reading frame 82							156.0	147.0	150.0					11																	82644345		2203	4300	6503	SO:0001819	synonymous_variant	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82644345A>G																												ENST00000533655.1:c.1965A>G	11.37:g.82644345A>G						C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G655G|C11orf82_ENST00000329143.3_Silent_p.G354G	p.G655G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN			6	2177	+			655					Q96LK6|Q9H856	Silent	SNP	ENST00000533655.1	37	c.1965A>G	CCDS8263.1																																																																																				0.343	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1			8	128	0	0	0	1	0	8	128				
RAP2C	57826	broad.mit.edu	37	X	131351245	131351245	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:131351245C>T	ENST00000342983.2	-	2	798	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T|RAP2C-AS1_ENST00000441399.2_RNA|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	18					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ACAGTAAGGGCAGATTTGCCA	0.507																																						ENST00000342983.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8						c.(52-54)Gcc>Acc		RAP2C, member of RAS oncogene family							176.0	181.0	179.0					X																	131351245		2203	4300	6503	SO:0001583	missense	57826				negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity	g.chrX:131351245C>T	BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.52G>A	X.37:g.131351245C>T	ENSP00000340274:p.Ala18Thr					RAP2C_ENST00000460462.1_Intron|RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T	p.A18T	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN			2	798	-	Acute lymphoblastic leukemia(192;0.000127)		18					B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	ENST00000342983.2	37	c.52G>A	CCDS14632.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.652149	0.88056	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.75260	-0.92;-0.92	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	M	0.84683	2.71	0.80722	D	1	B	0.25007	0.116	B	0.24541	0.054	T	0.79529	-0.1766	10	0.72032	D	0.01	.	17.8602	0.88779	0.0:1.0:0.0:0.0	.	18	Q9Y3L5	RAP2C_HUMAN	T	18	ENSP00000340274:A18T;ENSP00000359911:A18T	ENSP00000340274:A18T	A	-	1	0	RAP2C	131178926	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.236000	0.73375	0.502000	0.49764	GCC		0.507	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058312.1	NM_021183		6	147	0	0	0	1	0	6	147				
SALL1	6299	broad.mit.edu	37	16	51171049	51171049	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:51171049C>A	ENST00000251020.4	-	3	3982	c.3949G>T	c.(3949-3951)Gac>Tac	p.D1317Y	SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Missense_Mutation_p.D1220Y	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1317					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTTGCTGTCCTCCACGAAG	0.567																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3658-3660)Gac>Tac		spalt-like transcription factor 1							63.0	54.0	57.0					16																	51171049		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171049C>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3949G>T	16.37:g.51171049C>A	ENSP00000251020:p.Asp1317Tyr					SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000251020.4_Missense_Mutation_p.D1317Y	p.D1220Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	4089	-		all_cancers(37;0.0322)	1317					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3658G>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757629	0.69648	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.56941	0.43;0.43;0.43	5.8	5.8	0.92144	.	0.140838	0.64402	D	0.000005	T	0.71213	0.3313	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.74023	0.733;0.982	T	0.71951	-0.4437	10	0.87932	D	0	-22.5924	20.0486	0.97617	0.0:1.0:0.0:0.0	.	1317;140	Q9NSC2;F5H733	SALL1_HUMAN;.	Y	1317;1220;1281;140	ENSP00000251020:D1317Y;ENSP00000407914:D1220Y;ENSP00000442827:D140Y	ENSP00000251020:D1317Y	D	-	1	0	SALL1	49728550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.800000	0.85949	2.752000	0.94435	0.643000	0.83706	GAC		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		14	35	1	0	3.45872e-05	1	3.61593e-05	14	35				
SFTPD	6441	broad.mit.edu	37	10	81706233	81706233	+	Silent	SNP	G	G	A	rs148973610		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:81706233G>A	ENST00000372292.3	-	2	223	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	61	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCCCTTCTCGCCCCGAGGGC	0.602																																						ENST00000372292.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17						c.(181-183)ggC>ggT		surfactant protein D		G		0,4406		0,0,2203	46.0	44.0	45.0		183	-5.7	0.9	10	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SFTPD	NM_003019.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		61/376	81706233	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81706233G>A	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.183C>T	10.37:g.81706233G>A							p.G61G	NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		2	223	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		61			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	c.183C>T	CCDS7362.1																																																																																				0.602	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1			3	43	0	0	0	1	0	3	43				
KIF3B	9371	broad.mit.edu	37	20	30897692	30897692	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr20:30897692C>A	ENST00000375712.3	+	2	279	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	38	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATGTTAAGCTGGGGCAGGT	0.522																																						ENST00000375712.3																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(112-114)Ctg>Atg		kinesin family member 3B							158.0	127.0	137.0					20																	30897692		2203	4300	6503	SO:0001583	missense	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897692C>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.112C>A	20.37:g.30897692C>A	ENSP00000364864:p.Leu38Met						p.L38M	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	279	+			38			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	c.112C>A	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637401	0.29157	.	.	ENSG00000101350	ENST00000375712	T	0.75477	-0.94	4.76	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	T	0.73140	0.3549	L	0.48986	1.54	0.80722	D	1	B;P	0.45634	0.157;0.863	B;P	0.48982	0.329;0.597	T	0.73452	-0.3978	10	0.49607	T	0.09	.	9.4098	0.38485	0.0:0.8704:0.0:0.1296	.	38;38	B4DYF2;O15066	.;KIF3B_HUMAN	M	38	ENSP00000364864:L38M	ENSP00000364864:L38M	L	+	1	2	KIF3B	30361353	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	1.105000	0.31086	2.630000	0.89119	0.561000	0.74099	CTG		0.522	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		3	36	1	0	1	1	1	3	36				
GADD45GIP1	90480	broad.mit.edu	37	19	13065170	13065170	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:13065170C>T	ENST00000316939.1	-	2	544	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	174					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						CTCCTGGAAGCGGGCACTCCT	0.622																																						ENST00000316939.1																			0				ovary(2)|prostate(1)|skin(1)	4						c.(520-522)cGc>cAc		growth arrest and DNA-damage-inducible, gamma interacting protein 1							72.0	75.0	74.0					19																	13065170		2203	4300	6503	SO:0001583	missense	90480				cell cycle|interspecies interaction between organisms	nucleus	protein binding	g.chr19:13065170C>T	AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.521G>A	19.37:g.13065170C>T	ENSP00000323065:p.Arg174His						p.R174H	NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN			2	544	-			174					Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	c.521G>A	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885496	0.72410	.	.	ENSG00000179271	ENST00000316939	.	.	.	4.74	3.71	0.42584	.	0.069774	0.56097	D	0.000028	T	0.69061	0.3069	M	0.74881	2.28	0.40407	D	0.979711	D	0.76494	0.999	D	0.68765	0.96	T	0.72001	-0.4422	9	0.72032	D	0.01	-31.637	5.5206	0.16931	0.0:0.721:0.0:0.279	.	174	Q8TAE8	G45IP_HUMAN	H	174	.	ENSP00000323065:R174H	R	-	2	0	GADD45GIP1	12926170	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	3.816000	0.55658	2.217000	0.71921	0.558000	0.71614	CGC		0.622	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850		17	31	0	0	0	1	0	17	31				
EEF1D	1936	broad.mit.edu	37	8	144668979	144668979	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:144668979A>C	ENST00000529272.1	-	2	437	c.37T>G	c.(37-39)Ttc>Gtc	p.F13V	EEF1D_ENST00000532741.1_Missense_Mutation_p.F429V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	13					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AACTTGTCGAACCAGATCTTC	0.552																																						ENST00000532741.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1285-1287)Ttc>Gtc		eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)							129.0	128.0	128.0					8																	144668979		2203	4300	6503	SO:0001583	missense	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144668979A>C	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.37T>G	8.37:g.144668979A>C	ENSP00000434872:p.Phe13Val					EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000529272.1_Missense_Mutation_p.F13V|EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V	p.F429V			P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		2	1513	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		13					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.1285T>G	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978753	0.74360	.	.	ENSG00000104529	ENST00000419152;ENST00000532400;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000528610;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000356793;ENST00000317198;ENST00000337369;ENST00000531621;ENST00000524624;ENST00000534380;ENST00000534377;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749;ENST00000526340;ENST00000525223;ENST00000532543;ENST00000531931	.	.	.	4.81	3.66	0.41972	.	0.051711	0.85682	D	0.000000	T	0.76104	0.3941	M	0.84082	2.675	0.51482	D	0.999924	P;P;D;P;D;P	0.76494	0.599;0.944;0.999;0.594;0.998;0.955	B;P;D;B;D;P	0.73380	0.284;0.649;0.976;0.164;0.98;0.809	T	0.74743	-0.3562	9	0.48119	T	0.1	.	7.2517	0.26152	0.8256:0.0:0.1744:0.0	.	13;379;331;13;429;379	E9PBQ9;D3DWK1;F8W934;P29692;E9PRY8;P29692-2	.;.;.;EF1D_HUMAN;.;.	V	13;13;429;13;379;13;13;13;379;331;13;379;13;13;13;13;13;13;13;13;13;13;29;13;13;13;13	.	ENSP00000317399:F13V	F	-	1	0	EEF1D	144740122	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	6.708000	0.74660	0.801000	0.34066	0.459000	0.35465	TTC		0.552	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2	NM_032378		4	94	0	0	0	1	0	4	94				
OR5P3	120066	broad.mit.edu	37	11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438																																						ENST00000328375.1																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15						c.(214-216)gGg>gCg		olfactory receptor, family 5, subfamily P, member 3							116.0	113.0	114.0					11																	7847305		2188	4296	6484	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847305C>G	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.215G>C	11.37:g.7847305C>G	ENSP00000332068:p.Gly72Ala					RP11-35J10.5_ENST00000527565.1_lincRNA	p.G72A	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	214	-			72					Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.215G>C	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	C	1.507	-0.550463	0.03996	.	.	ENSG00000182334	ENST00000328375	T	0.01313	5.02	5.18	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000291	T	0.01454	0.0047	L	0.35341	1.055	0.09310	N	1	B	0.17038	0.02	B	0.23275	0.045	T	0.44682	-0.9312	10	0.39692	T	0.17	-10.7394	8.1317	0.31031	0.3149:0.5323:0.1528:0.0	.	72	Q8WZ94	OR5P3_HUMAN	A	72	ENSP00000332068:G72A	ENSP00000332068:G72A	G	-	2	0	OR5P3	7803881	0.009000	0.17119	0.006000	0.13384	0.002000	0.02628	2.470000	0.45119	1.387000	0.46486	0.644000	0.83932	GGG		0.438	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		11	37	0	0	0	1	0	11	37				
CDV3	55573	broad.mit.edu	37	3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:133292940_133292942delAAG	ENST00000264993.3	+	1	367_369	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_ENST00000515421.1_5'Flank|CDV3_ENST00000511392.1_5'Flank|CDV3_ENST00000508481.1_5'Flank|CDV3_ENST00000431519.2_In_Frame_Del_p.K22del|CDV3_ENST00000420115.2_5'Flank	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	22	Poly-Lys.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744																																						ENST00000264993.3																			0				kidney(3)|lung(1)|prostate(1)	5						c.(52-54)del		CDV3 homolog (mouse)			,	27,3461		1,25,1718					,	1.8	1.0			4	68,7044		3,62,3491	no	coding,coding	CDV3	NM_017548.4,NM_001134422.1	,	4,87,5209	A1A1,A1R,RR		0.9561,0.7741,0.8962	,	,		95,10505				SO:0001651	inframe_deletion	55573				cell proliferation	cytoplasm		g.chr3:133292940_133292942delAAG	AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.52_54delAAG	3.37:g.133292949_133292951delAAG	ENSP00000264993:p.Lys22del					CDV3_ENST00000431519.2_In_Frame_Del_p.K22del	p.K22del	NM_001134422.1|NM_017548.4	NP_001127894.1|NP_060018.1	Q9UKY7	CDV3_HUMAN			1	367_369	+			22			Poly-Lys.		B3KUC2|Q96IP9	In_Frame_Del	DEL	ENST00000264993.3	37	c.52_54delAAG	CCDS3079.1																																																																																				0.744	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1	NM_017548		2	4						2	4	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		2	4						2	4	---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80173535	80173535	+	5'Flank	DEL	C	C	-	rs61581716	byFrequency	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:80173535delC	ENST00000389641.4	-	0	0				RP13-516M14.2_ENST00000581303.1_RNA|CCDC57_ENST00000392343.3_5'Flank|CCDC57_ENST00000392347.1_5'Flank			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			tccttccctgccccccacact	0.701													|||unknown(LONG_INSERTION)	2565	0.512181	0.5688	0.5375	5008	,	,		10887	0.5258		0.4235	False		,,,				2504	0.4949					ENST00000581303.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr17:80173535delC	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396		17.37:g.80173535delC	Exception_encountered													0	1371	+								A6NP51|A8MQC7|Q8IWG2|Q8TER3	RNA	DEL	ENST00000389641.4	37																																																																																						0.701	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		5	2						5	2	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085940_11085942delCAC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085949_11085951delCAC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	9						4	9	---	---	---	---
