#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
MTMR4	9110	broad.mit.edu	37	17	56572506	56572506	+	Silent	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:56572506G>A	ENST00000323456.5	-	16	3121	c.2997C>T	c.(2995-2997)aaC>aaT	p.N999N	MTMR4_ENST00000579925.1_Silent_p.N942N	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	999					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGAAGGGCAGTTCAGTGGAA	0.507																																						uc002iwj.2																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(2995-2997)aaC>aaT		Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.							207.0	191.0	196.0					17																	56572506		2203	4300	6503	SO:0001819	synonymous_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572506G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2997C>T	17.37:g.56572506G>A			Somatic					p.N999N	NM_004687	NP_004678	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			15	3107	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		999					D3DTZ6|Q8IV27|Q9Y4D5	Silent	SNP	ENST00000323456.5	37	c.2997C>T	CCDS11608.1																																																																																				0.507	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		5	259	0	0	0	1	0	5	259				
SNAP47	116841	broad.mit.edu	37	1	227935556	227935556	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:227935556G>A	ENST00000366759.4	+	2	668	c.254G>A	c.(253-255)aGc>aAc	p.S85N	SNAP47_ENST00000315781.5_Missense_Mutation_p.S85N|SNAP47_ENST00000366760.1_Intron|SNAP47-AS1_ENST00000413347.2_RNA	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	85				DST -> TRP (in Ref. 5; AAH01332). {ECO:0000305}.	long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATGACTGACAGCACTGGAGAG	0.527																																						uc001hrf.2																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(253-255)aGc>aAc		Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.							62.0	55.0	58.0					1																	227935556		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935556G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.254G>A	1.37:g.227935556G>A	ENSP00000355721:p.Ser85Asn		Somatic				SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.S85N|SNAP47_uc001hre.3_Intron	p.S85N	NM_053052	NP_444280	WXS	Illumina GAIIx	Phase_I	Q5SQN1	SNP47_HUMAN			1	668	+			85	DST -> TRP (in Ref. 5; AAH01332).				B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.254G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	4.450	0.083409	0.08533	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.15603	2.41;2.41	4.08	1.79	0.24919	.	0.617332	0.17694	N	0.165165	T	0.11281	0.0275	L	0.34521	1.04	0.09310	N	1	B;B	0.29805	0.257;0.257	B;B	0.29077	0.098;0.098	T	0.21930	-1.0231	10	0.40728	T	0.16	-13.8919	5.629	0.17499	0.6285:0.0:0.3715:0.0	.	85;85	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	N	85	ENSP00000355721:S85N;ENSP00000314157:S85N	ENSP00000314157:S85N	S	+	2	0	SNAP47	226002179	1.000000	0.71417	0.001000	0.08648	0.029000	0.11900	2.933000	0.48948	0.207000	0.20607	0.591000	0.81541	AGC		0.527	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		3	37	0	0	0	1	0	3	37				
TDRD6	221400	broad.mit.edu	37	6	46658465	46658465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:46658465C>A	ENST00000316081.6	+	1	2600	c.2600C>A	c.(2599-2601)tCa>tAa	p.S867*	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Nonsense_Mutation_p.S867*|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	867	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATATTTATTCAATTAGTGAA	0.368																																						uc003oyj.3																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2599-2601)tCa>tAa		Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.							76.0	83.0	80.0					6																	46658465		2203	4300	6503	SO:0001587	stop_gained	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658465C>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2600C>A	6.37:g.46658465C>A	ENSP00000346065:p.Ser867*		Somatic				TDRD6_uc010jze.3_Nonsense_Mutation_p.S867*	p.S867*	NM_001010870	NP_001010870	WXS	Illumina GAIIx	Phase_I	O60522	TDRD6_HUMAN	Lung(136;0.192)		0	2854	+			867			Tudor 4.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Nonsense_Mutation	SNP	ENST00000316081.6	37	c.2600C>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	39	7.417118	0.98272	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	.	.	.	5.75	4.88	0.63580	.	0.988332	0.08273	N	0.971158	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3511	10.204	0.43101	0.0:0.7928:0.136:0.0712	.	.	.	.	X	867	.	ENSP00000346065:S867X	S	+	2	0	TDRD6	46766424	0.083000	0.21467	0.057000	0.19452	0.995000	0.86356	1.813000	0.38962	1.429000	0.47314	0.655000	0.94253	TCA		0.368	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		4	94	0	0	0	1	0	4	94				
FUNDC2	65991	broad.mit.edu	37	X	154282927	154282927	+	Silent	SNP	C	C	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:154282927C>T	ENST00000369498.3	+	5	804	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L184V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448																																						uc004fmw.3																			1	Substitution - Missense(1)	p.L184V(2)|p.L184L(1)	breast(1)	breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(550-552)Ctg>Ttg		Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.							149.0	137.0	141.0					X																	154282927		2203	4300	6503	SO:0001819	synonymous_variant	65991					mitochondrion		g.chrX:154282927C>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.550C>T	X.37:g.154282927C>T			Somatic					p.L184L	NM_023934	NP_076423	WXS	Illumina GAIIx	Phase_I	Q9BWH2	FUND2_HUMAN			4	700	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		184					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	c.550C>T	CCDS14763.1																																																																																				0.448	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		11	253	0	0	0	1	0	11	253				
MRPL46	26589	broad.mit.edu	37	15	89010506	89010506	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:89010506C>A	ENST00000312475.4	-	1	144	c.103G>T	c.(103-105)Gca>Tca	p.A35S	MRPS11_ENST00000325844.4_5'Flank|MRPS11_ENST00000353598.6_5'Flank|MRPL46_ENST00000559538.1_5'Flank	NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	35						mitochondrion (GO:0005739)|ribosome (GO:0005840)	hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGTGCGGCTGCAAGAGCCAGG	0.677																																						uc002bmj.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(103-105)Gca>Tca		Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.							28.0	30.0	29.0					15																	89010506		2201	4299	6500	SO:0001583	missense	26589					mitochondrion|ribosome	hydrolase activity	g.chr15:89010506C>A	AF210056	CCDS10341.1	15q25.3	2012-10-08	2001-12-10	2001-12-14	ENSG00000259494	ENSG00000259494		"""Mitochondrial ribosomal proteins / large subunits"""	1192	protein-coding gene	gene with protein product		611851	"""chromosome 15 open reading frame 4"""	C15orf4		11761714, 11551941	Standard	NM_022163		Approved	LIECG2, P2ECSL	uc002bmj.2	Q9H2W6	OTTHUMG00000148683	ENST00000312475.4:c.103G>T	15.37:g.89010506C>A	ENSP00000312311:p.Ala35Ser		Somatic				MRPL46_uc002bmi.1_5'Flank|MRPS11_uc002bmm.3_5'Flank|MRPS11_uc002bmn.3_5'Flank|MRPS11_uc010bnj.3_5'Flank|MRPS11_uc002bml.3_5'Flank	p.A35S	NM_022163	NP_071446	WXS	Illumina GAIIx	Phase_I	Q9H2W6	RM46_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		0	128	-	Lung NSC(78;0.203)		35					B2RD75|Q9HBU8	Missense_Mutation	SNP	ENST00000312475.4	37	c.103G>T	CCDS10341.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264730	0.59431	.	.	ENSG00000173867	ENST00000312475	T	0.42513	0.97	5.07	0.847	0.18961	.	0.408254	0.27147	N	0.020710	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.16100	-1.0414	10	0.08837	T	0.75	.	2.5944	0.04850	0.1507:0.5384:0.146:0.165	.	35	Q9H2W6	RM46_HUMAN	S	35	ENSP00000312311:A35S	ENSP00000312311:A35S	A	-	1	0	MRPL46	86811510	0.000000	0.05858	0.014000	0.15608	0.029000	0.11900	0.651000	0.24873	0.300000	0.22699	0.655000	0.94253	GCA		0.677	MRPL46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309073.1	NM_022163		3	15	0	0	0	1	0	3	15				
CEP95	90799	broad.mit.edu	37	17	62512852	62512852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:62512852C>T	ENST00000556440.2	+	5	889	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	CEP95_ENST00000553412.1_Intron	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	127						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TGAAACTGAACAGTATTTTAA	0.368																																						uc002jem.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(379-381)Cag>Tag		Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.							109.0	99.0	102.0					17																	62512852		1817	4070	5887	SO:0001587	stop_gained	90799					centrosome|spindle pole	protein binding	g.chr17:62512852C>T	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.379C>T	17.37:g.62512852C>T	ENSP00000450461:p.Gln127*		Somatic				CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Intron	p.Q127*	NM_138363	NP_612372	WXS	Illumina GAIIx	Phase_I	Q96GE4	CEP95_HUMAN			4	437	+			127					B4DMD2|Q96M81	Nonsense_Mutation	SNP	ENST00000556440.2	37	c.379C>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024294	0.75390	.	.	ENSG00000258890	ENST00000556440	.	.	.	5.1	1.91	0.25777	.	0.786112	0.12366	N	0.475250	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.8718	8.6425	0.33985	0.1637:0.52:0.3163:0.0	.	.	.	.	X	127	.	ENSP00000437744:Q127X	Q	+	1	0	CEP95	59943314	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	0.297000	0.19101	0.380000	0.24823	-1.067000	0.02272	CAG		0.368	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		13	29	0	0	0	1	0	13	29				
E2F3	1871	broad.mit.edu	37	6	20402610	20402610	+	Silent	SNP	C	C	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741																																						uc003nda.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(145-147)gcC>gcT		Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.							14.0	21.0	18.0					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20402610C>T	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.147C>T	6.37:g.20402610C>T			Somatic				E2F3_uc003ncz.2_Silent_p.A49A|E2F3_uc021ymj.1_5'Flank	p.A49A	NM_001949	NP_001940	WXS	Illumina GAIIx	Phase_I	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		0	474	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		49			Poly-Ala.		Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	c.147C>T	CCDS4545.1																																																																																				0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			3	48	0	0	0	1	0	3	48				
PLP1	5354	broad.mit.edu	37	X	103042754	103042754	+	Missense_Mutation	SNP	G	G	A	rs11543023		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chrX:103042754G>A	ENST00000303958.2	+	4	627	c.481G>A	c.(481-483)Gtt>Att	p.V161I	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Missense_Mutation_p.V161I|PLP1_ENST00000361621.2_Missense_Mutation_p.V126I	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	161			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TGCCCTGACCGTTGTGTGGCT	0.507																																						uc010nov.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						c.(481-483)Gtt>Att		Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.							265.0	180.0	209.0					X																	103042754		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042754G>A	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.481G>A	X.37:g.103042754G>A	ENSP00000305152:p.Val161Ile		Somatic				RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.V161I|PLP1_uc004elj.3_Missense_Mutation_p.V126I|PLP1_uc011msf.2_Missense_Mutation_p.V106I|PLP1_uc010nox.3_Missense_Mutation_p.V115I	p.V161I	NM_001128834	NP_001122306	WXS	Illumina GAIIx	Phase_I	P60201	MYPR_HUMAN			4	761	+			161		Missing (in HLD1).			P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.481G>A	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117101	0.08881	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99252	-5.63;-5.63;-5.63	5.73	-2.0	0.07433	.	0.630262	0.17318	N	0.178635	D	0.95017	0.8387	N	0.12502	0.225	0.25863	N	0.983802	B;B;B;B	0.18461	0.004;0.001;0.001;0.028	B;B;B;B	0.15052	0.001;0.002;0.002;0.012	D	0.89255	0.3593	10	0.07644	T	0.81	-6.9567	11.153	0.48471	0.5962:0.0:0.4038:0.0	rs11543023;rs11543023	106;161;161;126	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	I	161;161;126;139	ENSP00000405750:V161I;ENSP00000305152:V161I;ENSP00000354860:V126I	ENSP00000305152:V161I	V	+	1	0	PLP1	102929410	0.808000	0.29022	0.959000	0.39883	0.996000	0.88848	0.400000	0.20932	-0.297000	0.08934	0.600000	0.82982	GTT		0.507	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			5	230	0	0	0	1	0	5	230				
DNAH2	146754	broad.mit.edu	37	17	7736520	7736520	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr17:7736520C>A	ENST00000572933.1	+	85	14570	c.13110C>A	c.(13108-13110)agC>agA	p.S4370R	DNAH2_ENST00000389173.2_Missense_Mutation_p.S4370R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4370					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGCAGAGAGCCGCAAGAAGA	0.622																																						uc002giu.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(13108-13110)agC>agA		Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.							35.0	36.0	35.0					17																	7736520		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7736520C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.13110C>A	17.37:g.7736520C>A	ENSP00000458355:p.Ser4370Arg		Somatic					p.S4370R	NM_020877	NP_065928	WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			83	13124	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4370					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.13110C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783103	0.16189	.	.	ENSG00000183914	ENST00000389173	T	0.08282	3.11	3.9	-0.377	0.12501	Dynein heavy chain (1);	0.191020	0.45361	D	0.000378	T	0.04724	0.0128	N	0.21448	0.665	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.43589	-0.9382	10	0.15066	T	0.55	.	8.7406	0.34556	0.0:0.628:0.0:0.372	.	4370	Q9P225	DYH2_HUMAN	R	4370	ENSP00000373825:S4370R	ENSP00000373825:S4370R	S	+	3	2	DNAH2	7677245	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.558000	0.23469	0.100000	0.17581	0.484000	0.47621	AGC		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		6	49	0	0	0	1	0	6	49				
UROC1	131669	broad.mit.edu	37	3	126226844	126226844	+	Missense_Mutation	SNP	C	C	T	rs369545977		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr3:126226844C>T	ENST00000290868.2	-	5	559	c.506G>A	c.(505-507)cGc>cAc	p.R169H	UROC1_ENST00000383579.3_Missense_Mutation_p.R169H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	169					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGGGCACTGCGGCTGCTGGG	0.597																																						uc010hsi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(505-507)cGc>cAc		Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	72.0	75.0	74.0		506,506	3.0	0.6	3		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UROC1	NM_001165974.1,NM_144639.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	169/737,169/677	126226844	1,13005	2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126226844C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.506G>A	3.37:g.126226844C>T	ENSP00000290868:p.Arg169His		Somatic				UROC1_uc003eiz.2_Missense_Mutation_p.R169H	p.R169H	NM_001165974	NP_001159446	WXS	Illumina GAIIx	Phase_I	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	4	560	-			169					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.506G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970815	0.34754	0.0	1.16E-4	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.43688	0.94;0.94	3.91	3.03	0.35002	Urocanase domain (2);	0.239792	0.42682	D	0.000665	T	0.44498	0.1296	M	0.72118	2.19	0.19575	N	0.999968	P;P	0.46512	0.832;0.879	B;B	0.43623	0.213;0.425	T	0.44283	-0.9338	10	0.87932	D	0	-9.3888	11.3057	0.49334	0.0:0.1976:0.8024:0.0	.	169;169	E9PE13;Q96N76	.;HUTU_HUMAN	H	169	ENSP00000290868:R169H;ENSP00000373073:R169H	ENSP00000290868:R169H	R	-	2	0	UROC1	127709534	0.954000	0.32549	0.601000	0.28877	0.033000	0.12548	1.450000	0.35134	0.979000	0.38497	-0.340000	0.08031	CGC		0.597	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		13	153	0	0	0	1	0	13	153				
ZNF446	55663	broad.mit.edu	37	19	58992084	58992084	+	Silent	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr19:58992084G>A	ENST00000594369.1	+	7	1725	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E	ZNF446_ENST00000335841.4_3'UTR|ZNF446_ENST00000596341.1_Silent_p.E397E	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	448					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		ACCGGCCGGAGGTTCCATGAG	0.657																																						uc002qsz.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(1342-1344)gaG>gaA		Homo sapiens zinc finger protein 446 (ZNF446), mRNA.							28.0	31.0	30.0					19																	58992084		2184	4250	6434	SO:0001819	synonymous_variant	55663				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58992084G>A		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.1344G>A	19.37:g.58992084G>A			Somatic				ZNF446_uc002qta.3_3'UTR|ZNF446_uc010eur.3_3'UTR|SLC27A5_uc002qtb.3_Non-coding_Transcript	p.E448E	NM_017908	NP_060378	WXS	Illumina GAIIx	Phase_I	Q9NWS9	ZN446_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	6	1461	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	448						Silent	SNP	ENST00000594369.1	37	c.1344G>A	CCDS12982.1																																																																																				0.657	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467052.1	NM_017908		4	99	0	0	0	1	0	4	99				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	60	0	0	0	1	0	31	60				
CACNA1E	777	broad.mit.edu	37	1	181735734	181735734	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr1:181735734T>C	ENST00000367573.2	+	35	4868	c.4868T>C	c.(4867-4869)aTc>aCc	p.I1623T	CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1623T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.I1604T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1230T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1574T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1555T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1604T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1623					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTTATGCCATCATTGGGATG	0.478																																						uc009wxt.3																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4867-4869)aTc>aCc		Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.							143.0	126.0	131.0					1																	181735734		1919	4138	6057	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181735734T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4868T>C	1.37:g.181735734T>C	ENSP00000356545:p.Ile1623Thr		Somatic				CACNA1E_uc001gow.3_Missense_Mutation_p.I1623T|CACNA1E_uc009wxs.3_Missense_Mutation_p.I1604T|CACNA1E_uc001gox.1_Missense_Mutation_p.I849T	p.I1623T	NM_001205293	NP_001192222	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			34	5063	+			1623					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4868T>C	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629600	0.87660	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98947	-5.26;-5.26;-5.26;-5.26;-5.26;-5.26;-5.26	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	M	0.93106	3.38	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.80764	0.984;0.994;0.99	D	0.98934	1.0788	10	0.87932	D	0	.	15.3885	0.74723	0.0:0.0:0.0:1.0	.	1604;1623;1623	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	T	1623;1604;1574;1555;1230;1604;1623	ENSP00000356542:I1623T;ENSP00000434814:I1604T;ENSP00000350183:I1574T;ENSP00000351101:I1555T;ENSP00000356539:I1230T;ENSP00000353222:I1604T;ENSP00000356545:I1623T	ENSP00000350183:I1574T	I	+	2	0	CACNA1E	180002357	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.887000	0.87295	2.118000	0.64928	0.533000	0.62120	ATC		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	9	0	0	0	1	0	10	9				
LRP1B	53353	broad.mit.edu	37	2	141245239	141245239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr2:141245239G>A	ENST00000389484.3	-	58	10161	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3064					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTGGGTCGGCTAGAATCG	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9190-9192)Cga>Tga		Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.							93.0	95.0	94.0					2																	141245239		2203	4292	6495	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141245239G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9190C>T	2.37:g.141245239G>A	ENSP00000374135:p.Arg3064*	TSP Lung(27;0.18)	Somatic					p.R3064*	NM_018557	NP_061027	WXS	Illumina GAIIx	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	57	10162	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3064					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.9190C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	55	24.185479	0.99959	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.77	1.45	0.22620	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.9117	0.41411	0.0797:0.0:0.2109:0.7094	.	.	.	.	X	3064;3002	.	ENSP00000374135:R3064X	R	-	1	2	LRP1B	140961709	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.054000	0.49908	0.264000	0.21851	0.650000	0.86243	CGA		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	86	0	0	0	1	0	6	86				
ANKRD42	338699	broad.mit.edu	37	11	82935987	82935987	+	Missense_Mutation	SNP	A	A	G	rs376999354	byFrequency	TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr11:82935987A>G	ENST00000393392.2	+	6	755	c.593A>G	c.(592-594)aAt>aGt	p.N198S	ANKRD42_ENST00000531895.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.N226S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.N225S	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	198			N -> D (in dbSNP:rs17515016).		positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AAAGCTTTCAATGATAATGGA	0.423													A|||	3	0.000599042	0.0008	0.0014	5008	,	,		12958	0.0		0.001	False		,,,				2504	0.0					uc010rsv.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(676-678)aAt>aGt		Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.		A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	105.0	108.0	107.0		593	5.7	1.0	11		107	0,8600		0,0,4300	no	missense	ANKRD42	NM_182603.2	46	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	198/390	82935987	1,13005	2203	4300	6503	SO:0001583	missense	338699							g.chr11:82935987A>G	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.593A>G	11.37:g.82935987A>G	ENSP00000377051:p.Asn198Ser		Somatic				ANKRD42_uc001ozz.1_Missense_Mutation_p.N198S|ANKRD42_uc001paa.3_Missense_Mutation_p.N226S|ANKRD42_uc001pab.1_Missense_Mutation_p.N225S	p.N226S			WXS	Illumina GAIIx	Phase_I	Q8N9B4	ANR42_HUMAN			5	1099	+			198					Q49A49	Missense_Mutation	SNP	ENST00000393392.2	37	c.677A>G	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176202	0.78564	2.27E-4	0.0	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000004	T	0.38692	0.1050	L	0.61036	1.89	0.41734	D	0.989572	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.74674	0.939;0.91;0.91;0.984	T	0.09037	-1.0693	9	.	.	.	-12.6792	14.8967	0.70649	1.0:0.0:0.0:0.0	.	226;490;317;198	E9PIL2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;ANR42_HUMAN	S	545;225;226;198;226	ENSP00000260047:N225S;ENSP00000434666:N226S;ENSP00000377051:N198S;ENSP00000435790:N226S	.	N	+	2	0	ANKRD42	82613635	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.289000	0.72696	2.154000	0.67381	0.533000	0.62120	AAT		0.423	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		48	74	0	0	0	1	0	48	74				
EBF1	1879	broad.mit.edu	37	5	158141175	158141175	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:158141175T>C	ENST00000313708.6	-	12	1423	c.1141A>G	c.(1141-1143)Agg>Ggg	p.R381G	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R350G|EBF1_ENST00000517373.1_Missense_Mutation_p.R373G	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	381					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCAGCCCTTTTGAGTATT	0.478			T	HMGA2	lipoma																																	uc011ddx.2				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0		p.R381M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1144-1146)Agg>Ggg		Homo sapiens early B-cell factor 1 (EBF1), mRNA.							220.0	209.0	213.0					5																	158141175		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158141175T>C	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1141A>G	5.37:g.158141175T>C	ENSP00000322898:p.Arg381Gly		Somatic				EBF1_uc011ddw.2_Missense_Mutation_p.R249G|EBF1_uc010jip.3_Missense_Mutation_p.R381G|EBF1_uc003lxl.4_Missense_Mutation_p.R350G	p.R382G	NM_024007	NP_076870	WXS	Illumina GAIIx	Phase_I	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1446	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	381					Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.1144A>G	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855367	0.51376	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.43294	0.95;0.95;0.95	5.76	4.55	0.56014	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.85859	2.78	0.52501	D	0.999953	D;D;B;D	0.89917	1.0;0.997;0.347;1.0	D;D;B;D	0.97110	0.999;0.973;0.229;1.0	T	0.72623	-0.4237	10	0.66056	D	0.02	-6.607	13.3023	0.60332	0.0:0.0:0.226:0.774	.	381;368;381;350	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	381;381;350;373	ENSP00000322898:R381G;ENSP00000370029:R350G;ENSP00000428020:R373G	ENSP00000322898:R381G	R	-	1	2	EBF1	158073753	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	2.184000	0.42575	2.191000	0.70037	0.533000	0.62120	AGG		0.478	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		4	256	0	0	0	1	0	4	256				
C1GALT1	56913	broad.mit.edu	37	7	7283195	7283195	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr7:7283195A>G	ENST00000223122.3	+	3	991	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	C1GALT1_ENST00000436587.2_Missense_Mutation_p.Y310C			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	310					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCTTTTCACTATGTTGATTCT	0.353																																						uc003srb.2																			0				breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(928-930)tAt>tGt		Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.							186.0	178.0	180.0					7																	7283195		2203	4300	6503	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7283195A>G	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.929A>G	7.37:g.7283195A>G	ENSP00000223122:p.Tyr310Cys		Somatic				C1GALT1_uc003sra.3_Missense_Mutation_p.Y310C	p.Y310C	NM_020156	NP_064541	WXS	Illumina GAIIx	Phase_I	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	1152	+			310					Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.929A>G	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959809	0.74016	.	.	ENSG00000106392	ENST00000436587;ENST00000223122	T;T	0.63255	-0.03;-0.03	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.80746	2.51	0.80722	D	1	D	0.62365	0.991	D	0.67725	0.953	T	0.82032	-0.0658	10	0.62326	D	0.03	-24.1183	15.1931	0.73063	1.0:0.0:0.0:0.0	.	310	Q9NS00	C1GLT_HUMAN	C	310	ENSP00000389176:Y310C;ENSP00000223122:Y310C	ENSP00000223122:Y310C	Y	+	2	0	C1GALT1	7249720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.242000	0.95408	2.130000	0.65690	0.533000	0.62120	TAT		0.353	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		5	160	0	0	0	1	0	5	160				
ALG1L	200810	broad.mit.edu	37	3	125647418	125647418	+	IGR	SNP	A	A	T			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr3:125647418A>T	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						GGAGATGGCAATGCTGAACCT	0.483																																						uc003eid.4																			0													Homo sapiens family with sequence similarity 86, member A pseudogene (LOC100125556), transcript variant 2, non-coding RNA.																																				SO:0001628	intergenic_variant	100125556							g.chr3:125647418A>T	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647418A>T			Somatic				LOC100125556_uc003eif.4_Non-coding_Transcript				WXS	Illumina GAIIx	Phase_I					4		+								D3DNA5	RNA	SNP	ENST00000340333.3	37	c.494A>T	CCDS33840.1																																																																																				0.483	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	242	0	0	0	1	0	4	242				
BRIX1	55299	broad.mit.edu	37	5	34922857	34922857	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr5:34922857T>C	ENST00000336767.5	+	6	857	c.494T>C	c.(493-495)cTt>cCt	p.L165P	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	165	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCTCGGCCCCTTTTGTCTTTT	0.343																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(493-495)cTt>cCt		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							104.0	110.0	108.0					5																	34922857		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|protein binding	g.chr5:34922857T>C		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.494T>C	5.37:g.34922857T>C	ENSP00000338862:p.Leu165Pro		Somatic				BRIX1_uc011col.1_Missense_Mutation_p.L165P	p.L165P	NM_018321	NP_060791	WXS	Illumina GAIIx	Phase_I	Q8TDN6	BRX1_HUMAN			5	518	+			165			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.494T>C	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448690	0.84101	.	.	ENSG00000113460	ENST00000336767	T	0.28454	1.61	6.16	6.16	0.99307	Brix domain (3);Anticodon-binding (1);	0.060328	0.64402	D	0.000002	T	0.63058	0.2479	M	0.89601	3.045	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.66351	0.943;0.925	T	0.70461	-0.4865	10	0.66056	D	0.02	-21.2046	16.8061	0.85666	0.0:0.0:0.0:1.0	.	165;165	B4E0B8;Q8TDN6	.;BRX1_HUMAN	P	165	ENSP00000338862:L165P	ENSP00000338862:L165P	L	+	2	0	BRIX1	34958614	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.552000	0.82192	2.367000	0.80283	0.528000	0.53228	CTT		0.343	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		3	160	0	0	0	1	0	3	160				
RASGRP1	10125	broad.mit.edu	37	15	38791143	38791143	+	Silent	SNP	G	G	A	rs374227836		TCGA-EL-A3H8-01A-11D-A20C-08	TCGA-EL-A3H8-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05186c15-d6e9-4087-9b9e-0b109b8a9826	f57de21a-8553-47a8-9783-ca735dec455a	g.chr15:38791143G>A	ENST00000310803.5	-	15	1902	c.1725C>T	c.(1723-1725)tgC>tgT	p.C575C	RASGRP1_ENST00000561180.1_Silent_p.C626C|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000559830.1_Silent_p.C540C|RASGRP1_ENST00000450598.2_Silent_p.C540C|RASGRP1_ENST00000539159.1_Silent_p.C527C	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	575					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGTTCATCCCGCAGTCTGTGG	0.468																																						uc001zke.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(1723-1725)tgC>tgT		Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.		G	,	0,3850		0,0,1925	260.0	251.0	254.0		1620,1725	-10.2	0.7	15		254	1,8293		0,1,4146	no	coding-synonymous,coding-synonymous	RASGRP1	NM_001128602.1,NM_005739.3	,	0,1,6071	AA,AG,GG		0.0121,0.0,0.0082	,	540/763,575/798	38791143	1,12143	1925	4147	6072	SO:0001819	synonymous_variant	10125				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38791143G>A	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.1725C>T	15.37:g.38791143G>A			Somatic				RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Silent_p.C402C|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Silent_p.C540C	p.C575C	NM_005739	NP_005730	WXS	Illumina GAIIx	Phase_I	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	14	1903	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	575					Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.1725C>T	CCDS45222.1																																																																																				0.468	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		5	387	0	0	0	1	0	5	387				
