#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
ULK3	25989	broad.mit.edu	37	15	75134762	75134762	+	Splice_Site	SNP	C	C	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr15:75134762C>G	ENST00000440863.2	-	2	194		c.e2-1		ULK3_ENST00000568667.1_Splice_Site|ULK3_ENST00000569437.1_Splice_Site	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3						autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAGTGTCCTTCTGCGAGACAG	0.557																																						uc010ulq.1																			0				breast(2)	2						c.e2-1		Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.							187.0	184.0	185.0					15																	75134762		1967	4153	6120	SO:0001630	splice_region_variant	25989					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:75134762C>G	BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"""unc-51-like kinase 3 (C. elegans)"""				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.103-1G>C	15.37:g.75134762C>G						ULK3_uc010ulp.1_Splice_Site|ULK3_uc010ulr.1_Splice_Site|ULK3_uc010bkf.1_Splice_Site_p.K35_splice|ULK3_uc002ayv.2_Splice_Site_p.K35_splice|ULK3_uc010uls.1_Splice_Site|ULK3_uc010ult.1_Splice_Site|ULK3_uc010ulu.1_Splice_Site	p.K46_splice	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN			2	139	-			35			Protein kinase.		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Splice_Site	SNP	ENST00000440863.2	37	c.136_splice	CCDS45305.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333494	0.60853	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0888	0.86617	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ULK3	72921815	1.000000	0.71417	0.994000	0.49952	0.611000	0.37282	7.270000	0.78493	2.378000	0.81104	0.655000	0.94253	.		0.557	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421734.4	NM_015518	Intron	65	168	0	0	0	1	0	65	168				
KIAA1244	57221	broad.mit.edu	37	6	138584107	138584107	+	Missense_Mutation	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:138584107G>A	ENST00000251691.4	+	12	1653	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAGTCAGGGAACGAGAGG	0.592																																						uc003qhu.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1486-1488)gGg>gAg		Homo sapiens KIAA1244 (KIAA1244), mRNA.							51.0	39.0	43.0					6																	138584107		2203	4299	6502	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584107G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1487G>A	6.37:g.138584107G>A	ENSP00000251691:p.Gly496Glu						p.G496E	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	11	1658	+	Breast(32;0.135)		496						Missense_Mutation	SNP	ENST00000251691.4	37	c.1487G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	9.246	1.039478	0.19669	.	.	ENSG00000112379	ENST00000251691	T	0.20200	2.09	5.52	4.65	0.58169	.	0.640740	0.14684	N	0.304577	T	0.07593	0.0191	N	0.24115	0.695	0.35554	D	0.804136	P	0.35077	0.483	B	0.33339	0.162	T	0.11891	-1.0569	10	0.52906	T	0.07	-23.692	14.0705	0.64856	0.0723:0.0:0.9277:0.0	.	496	Q5TH69	BIG3_HUMAN	E	496	ENSP00000251691:G496E	ENSP00000251691:G496E	G	+	2	0	KIAA1244	138625800	0.992000	0.36948	0.032000	0.17829	0.472000	0.32918	4.378000	0.59568	1.323000	0.45263	0.655000	0.94253	GGG		0.592	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		3	3	0	0	0	1	0	3	3				
BDH1	622	broad.mit.edu	37	3	197238954	197238954	+	Missense_Mutation	SNP	C	C	T	rs145598252		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:197238954C>T	ENST00000392378.2	-	7	1154	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	BDH1_ENST00000441275.1_Missense_Mutation_p.A195T|BDH1_ENST00000392379.1_Missense_Mutation_p.A282T|BDH1_ENST00000358186.2_Missense_Mutation_p.A282T	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	282					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		TCCATCTTGGCGATCTTTTCA	0.582																																						uc003fxr.3																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(844-846)Gcc>Acc		Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	NADH(DB00157)	C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	187.0	157.0	167.0		844,844,844	2.9	0.2	3	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense,missense	BDH1	NM_004051.4,NM_203314.2,NM_203315.2	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	282/344,282/344,282/344	197238954	1,13005	2203	4300	6503	SO:0001583	missense	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197238954C>T	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.844G>A	3.37:g.197238954C>T	ENSP00000376183:p.Ala282Thr					BDH1_uc003fxs.3_Missense_Mutation_p.A282T|BDH1_uc003fxu.3_Missense_Mutation_p.A282T	p.A282T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	7	1246	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	282					D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	ENST00000392378.2	37	c.844G>A	CCDS3328.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983110	0.34942	2.27E-4	0.0	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275	D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21	5.85	2.87	0.33458	NAD(P)-binding domain (1);	0.257583	0.43919	D	0.000507	D	0.87799	0.6268	L	0.42744	1.35	0.42674	D	0.993522	B	0.25809	0.135	B	0.17098	0.017	T	0.81486	-0.0911	10	0.17369	T	0.5	.	10.7729	0.46334	0.2568:0.6185:0.1247:0.0	.	282	Q02338	BDH_HUMAN	T	282;282;282;195	ENSP00000376183:A282T;ENSP00000350914:A282T;ENSP00000376184:A282T;ENSP00000411014:A195T	ENSP00000350914:A282T	A	-	1	0	BDH1	198723351	1.000000	0.71417	0.163000	0.22734	0.690000	0.40134	1.575000	0.36493	0.890000	0.36211	0.655000	0.94253	GCC		0.582	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		71	107	0	0	0	1	0	71	107				
DCX	1641	broad.mit.edu	37	X	110654079	110654079	+	Missense_Mutation	SNP	A	A	C			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:110654079A>C	ENST00000338081.3	-	1	295	c.124T>G	c.(124-126)Tca>Gca	p.S42A	DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000488120.1_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	42					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTTGTAAATGAATCCATAGCC	0.423																																						uc011msv.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(124-126)Tca>Gca		Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.							209.0	183.0	192.0					X																	110654079		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110654079A>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.124T>G	X.37:g.110654079A>C	ENSP00000337697:p.Ser42Ala					DCX_uc004epd.3_Missense_Mutation_p.S42A|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	p.S42A	NM_178152	NP_835365	O43602	DCX_HUMAN			0	296	-			42					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.124T>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.98|11.98	1.801176|1.801176	0.31869|0.31869	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000338081	.|T	.|0.26223	.|1.75	4.4|4.4	3.23|3.23	0.37069|0.37069	.|.	.|0.241990	.|0.21715	.|N	.|0.070201	T|T	0.13072|0.13072	0.0317|0.0317	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16802	.|0.019;0.019	.|B;B	.|0.17098	.|0.017;0.017	T|T	0.06092|0.06092	-1.0846|-1.0846	5|10	.|0.87932	.|D	.|0	.|.	8.229|8.229	0.31587|0.31587	0.9056:0.0:0.0944:0.0|0.9056:0.0:0.0944:0.0	.|.	.|30;42	.|B4DM53;O43602	.|.;DCX_HUMAN	M|A	33|42	.|ENSP00000337697:S42A	.|ENSP00000337697:S42A	I|S	-|-	3|1	3|0	DCX|DCX	110540735|110540735	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.812000|3.812000	0.55628|0.55628	0.812000|0.812000	0.34326|0.34326	0.411000|0.411000	0.27672|0.27672	ATT|TCA		0.423	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		7	174	0	0	0	1	0	7	174				
DTX1	1840	broad.mit.edu	37	12	113533162	113533162	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:113533162C>A	ENST00000257600.3	+	8	2084	c.1581C>A	c.(1579-1581)ttC>ttA	p.F527L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	527					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGAAGAAGTTCACCGCAAGAG	0.597																																						uc001tuk.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1579-1581)ttC>ttA		Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.							73.0	77.0	76.0					12																	113533162		2203	4300	6503	SO:0001583	missense	1840				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113533162C>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1581C>A	12.37:g.113533162C>A	ENSP00000257600:p.Phe527Leu						p.F527L	NM_004416	NP_004407	Q86Y01	DTX1_HUMAN			7	1917	+			527					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1581C>A	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817464	0.70912	.	.	ENSG00000135144	ENST00000257600	T	0.54866	0.55	4.66	3.76	0.43208	.	0.056522	0.64402	D	0.000001	T	0.60907	0.2305	M	0.88906	2.99	0.52099	D	0.999948	B	0.32939	0.391	B	0.38954	0.286	T	0.64188	-0.6466	10	0.87932	D	0	-0.564	8.549	0.33440	0.0:0.8152:0.0:0.1848	.	527	Q86Y01	DTX1_HUMAN	L	527	ENSP00000257600:F527L	ENSP00000257600:F527L	F	+	3	2	DTX1	112017545	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	3.720000	0.54933	0.922000	0.37019	0.561000	0.74099	TTC		0.597	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			5	173	0	0	0	1	0	5	173				
BCAM	4059	broad.mit.edu	37	19	45317503	45317503	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:45317503G>A	ENST00000270233.6	+	7	901	c.879G>A	c.(877-879)ggG>ggA	p.G293G	BCAM_ENST00000589651.1_Silent_p.G293G	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	293	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTGCCGGGGGGACGGCAGCC	0.672																																						uc002ozu.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(877-879)ggG>ggA		Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.							48.0	48.0	48.0					19																	45317503		2203	4299	6502	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317503G>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.879G>A	19.37:g.45317503G>A						BCAM_uc002ozt.1_Silent_p.G293G	p.G293G	NM_005581	NP_005572	P50895	BCAM_HUMAN			6	923	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	293			Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.879G>A	CCDS12644.1																																																																																				0.672	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		83	82	0	0	0	1	0	83	82				
TAS2R46	259292	broad.mit.edu	37	12	11214130	11214130	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr12:11214130A>G	ENST00000533467.1	-	1	763	c.764T>C	c.(763-765)cTg>cCg	p.L255P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	255					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTTGTTTTCCAGACTCTCAAA	0.418																																						uc001qzp.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(763-765)cTg>cCg		Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.							183.0	193.0	189.0					12																	11214130		2202	4300	6502	SO:0001583	missense	259292				sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	g.chr12:11214130A>G	AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.764T>C	12.37:g.11214130A>G	ENSP00000436450:p.Leu255Pro					PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.L255P	NM_176887	NP_795368	P59540	T2R46_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	0	764	-			255					P59548|Q645X6	Missense_Mutation	SNP	ENST00000533467.1	37	c.764T>C	CCDS53748.1	.	.	.	.	.	.	.	.	.	.	A	6.503	0.460981	0.12342	.	.	ENSG00000226761	ENST00000533467	T	0.00682	5.86	2.54	2.54	0.30619	.	.	.	.	.	T	0.00906	0.0030	L	0.37897	1.145	0.21020	N	0.999804	B	0.12630	0.006	B	0.20577	0.03	T	0.44050	-0.9353	9	0.37606	T	0.19	.	8.5848	0.33651	1.0:0.0:0.0:0.0	.	255	P59540	T2R46_HUMAN	P	255	ENSP00000436450:L255P	ENSP00000436450:L255P	L	-	2	0	TAS2R46	11105397	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-0.344000	0.07780	1.181000	0.42912	0.163000	0.16589	CTG		0.418	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383559.1	NM_176887		6	122	0	0	0	1	0	6	122				
ABCB7	22	broad.mit.edu	37	X	74296488	74296488	+	Splice_Site	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chrX:74296488G>A	ENST00000373394.3	-	5	462	c.455C>T	c.(454-456)gCc>gTc	p.A152V	ABCB7_ENST00000253577.3_Splice_Site_p.A153V|ABCB7_ENST00000339447.4_Splice_Site_p.A112V|ABCB7_ENST00000534570.1_5'Flank			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	152	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AATATTCATGGCCTAAAAACA	0.318																																						uc004ebz.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.e5-1		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.							84.0	65.0	71.0					X																	74296488		2203	4300	6503	SO:0001630	splice_region_variant	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74296488G>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.454-1C>T	X.37:g.74296488G>A						ABCB7_uc010nlt.3_Splice_Site_p.A112_splice|ABCB7_uc004eca.3_Splice_Site_p.A152_splice|ABCB7_uc011mqn.2_Splice_Site_p.A126_splice|ABCB7_uc010nls.3_Splice_Site_p.A113_splice	p.A153_splice	NM_004299	NP_004290	O75027	ABCB7_HUMAN			5	482	-			152			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Splice_Site	SNP	ENST00000373394.3	37	c.457_splice		.	.	.	.	.	.	.	.	.	.	G	5.433	0.265057	0.10294	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524;ENST00000526404	D;D;D;D;D	0.91521	-2.49;-2.49;-2.49;-2.49;-2.86	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.306560	0.37012	N	0.002282	T	0.68449	0.3002	N	0.00436	-1.5	0.39211	D	0.96331	B;B;B;B;B	0.15141	0.002;0.012;0.003;0.003;0.002	B;B;B;B;B	0.20184	0.016;0.012;0.028;0.028;0.016	T	0.71133	-0.4681	10	0.02654	T	1	-5.7904	12.8977	0.58109	0.0:0.1586:0.8414:0.0	.	126;112;153;152;153	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	V	126;153;112;152;126;97;165	ENSP00000253577:A153V;ENSP00000343849:A112V;ENSP00000362492:A152V;ENSP00000436586:A126V;ENSP00000435521:A97V	ENSP00000253577:A153V	A	-	2	0	ABCB7	74213213	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.129000	0.50500	2.252000	0.74401	0.544000	0.68410	GCC		0.318	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	Missense_Mutation	3	35	0	0	0	1	0	3	35				
OR52N2	390077	broad.mit.edu	37	11	5841775	5841775	+	Missense_Mutation	SNP	C	C	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5841775C>G	ENST00000317037.2	+	1	232	c.210C>G	c.(208-210)ttC>ttG	p.F70L	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F70F(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTCTCCTTCACTGATGTCA	0.537																																						uc010qzp.2																			1	Substitution - coding silent(1)	p.F70F(2)	skin(1)	autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32						c.(208-210)ttC>ttG		Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.							167.0	144.0	152.0					11																	5841775		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841775C>G	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.210C>G	11.37:g.5841775C>G	ENSP00000322801:p.Phe70Leu					TRIM5_uc001mbq.1_Intron	p.F70L	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	210	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	70					Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.210C>G	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153846	0.01700	.	.	ENSG00000180988	ENST00000317037	T	0.00966	5.49	5.91	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.193930	0.37261	N	0.002174	T	0.00608	0.0020	N	0.13198	0.31	0.22292	N	0.999226	B	0.06786	0.001	B	0.08055	0.003	T	0.48980	-0.8986	10	0.02654	T	1	.	9.7411	0.40418	0.0:0.7204:0.0:0.2796	.	70	Q8NGI0	O52N2_HUMAN	L	70	ENSP00000322801:F70L	ENSP00000322801:F70L	F	+	3	2	OR52N2	5798351	0.000000	0.05858	0.367000	0.25926	0.566000	0.35808	0.206000	0.17375	0.136000	0.18733	0.655000	0.94253	TTC		0.537	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		3	203	0	0	0	1	0	3	203				
PODXL2	50512	broad.mit.edu	37	3	127379384	127379384	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127379384G>A	ENST00000342480.6	+	3	552	c.513G>A	c.(511-513)gaG>gaA	p.E171E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	171	Glu-rich.				leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						aggaagaggaggagagggaga	0.557																																						uc003ejq.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(511-513)gaG>gaA		Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.							59.0	64.0	62.0					3																	127379384		2203	4300	6503	SO:0001819	synonymous_variant	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379384G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.513G>A	3.37:g.127379384G>A							p.E171E	NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN			2	537	+			171			Glu-rich.		Q6UVY4|Q8WUV6	Silent	SNP	ENST00000342480.6	37	c.513G>A	CCDS3044.1																																																																																				0.557	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		3	71	0	0	0	1	0	3	71				
SEC61A1	29927	broad.mit.edu	37	3	127779461	127779461	+	Silent	SNP	C	C	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:127779461C>A	ENST00000243253.3	+	7	757	c.573C>A	c.(571-573)atC>atA	p.I191I	SEC61A1_ENST00000464451.1_Silent_p.I197I|SEC61A1_ENST00000424880.2_Silent_p.I71I	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	191					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GTGAAACCATCGTATGGAAGG	0.478																																						uc003ekb.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(571-573)atC>atA		Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.							119.0	105.0	110.0					3																	127779461		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127779461C>A	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.573C>A	3.37:g.127779461C>A						SEC61A1_uc003ekc.3_Silent_p.I138I|SEC61A1_uc003ekd.3_Silent_p.I71I	p.I191I	NM_013336	NP_037468	P61619	S61A1_HUMAN			6	757	+			191					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.573C>A	CCDS3046.1																																																																																				0.478	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		3	58	0	0	0	1	0	3	58				
LRRC36	55282	broad.mit.edu	37	16	67401213	67401213	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr16:67401213A>G	ENST00000329956.6	+	8	1067	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	LRRC36_ENST00000435835.3_Missense_Mutation_p.R229G|LRRC36_ENST00000290940.7_Missense_Mutation_p.R82G|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229G	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTGGTAAAAGGCCTCAGAG	0.403																																						uc002esv.3																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1048-1050)Agg>Ggg		Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.							179.0	183.0	182.0					16																	67401213		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67401213A>G	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1048A>G	16.37:g.67401213A>G	ENSP00000329943:p.Arg350Gly					LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Intron|LRRC36_uc002esx.3_Missense_Mutation_p.R229G|LRRC36_uc010vjk.2_Missense_Mutation_p.R229G|LRRC36_uc010vjl.2_Intron	p.R350G	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	7	1067	+		Ovarian(137;0.192)	350					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1048A>G	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.386409	0.61956	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.55588	2.82;0.51;1.1	6.17	6.17	0.99709	.	0.612512	0.17516	N	0.171423	T	0.55529	0.1926	L	0.50333	1.59	0.80722	D	1	P;P;P	0.46142	0.873;0.873;0.763	P;P;B	0.47346	0.544;0.466;0.288	T	0.56547	-0.7961	10	0.54805	T	0.06	-5.5187	13.214	0.59844	1.0:0.0:0.0:0.0	.	229;229;350	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	G	350;82;229	ENSP00000329943:R350G;ENSP00000290940:R82G;ENSP00000411122:R229G	ENSP00000290940:R82G	R	+	1	2	LRRC36	65958714	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	4.891000	0.63185	2.371000	0.80710	0.533000	0.62120	AGG		0.403	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		3	122	0	0	0	1	0	3	122				
UTRN	7402	broad.mit.edu	37	6	145021242	145021242	+	Missense_Mutation	SNP	G	G	T	rs374209033		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr6:145021242G>T	ENST00000367545.3	+	52	7672	c.7672G>T	c.(7672-7674)Gct>Tct	p.A2558S	UTRN_ENST00000367526.4_Missense_Mutation_p.A113S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2558					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGGCCAGCGCTGAGAAGTG	0.373																																						uc003qkt.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(7672-7674)Gct>Tct		Homo sapiens utrophin (UTRN), mRNA.							74.0	74.0	74.0					6																	145021242		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145021242G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7672G>T	6.37:g.145021242G>T	ENSP00000356515:p.Ala2558Ser						p.A2558S	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	51	7764	+		Ovarian(120;0.218)	2558					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7672G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265518	0.23136	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.34472	1.36;1.36	5.64	5.64	0.86602	.	0.000000	0.46758	D	0.000270	T	0.12008	0.0292	N	0.24115	0.695	0.51012	D	0.999905	B	0.15141	0.012	B	0.12156	0.007	T	0.15065	-1.0450	10	0.02654	T	1	.	19.7186	0.96134	0.0:0.0:1.0:0.0	.	2558	P46939	UTRO_HUMAN	S	2558;113	ENSP00000356515:A2558S;ENSP00000356496:A113S	ENSP00000356496:A113S	A	+	1	0	UTRN	145062935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.333000	0.79214	2.659000	0.90383	0.655000	0.94253	GCT		0.373	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			3	54	0	0	0	1	0	3	54				
Unknown	0	broad.mit.edu	37	11	5989487	5989487	+	IGR	SNP	C	C	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr11:5989487C>T								OR56A3 (19896 upstream) : OR52L1 (17634 downstream)																							TTGGGGATGACGGTGAGGCAG	0.532																																						uc010qzu.2																			0											c.(238-240)Gtc>Atc		Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.							75.0	73.0	73.0					11																	5989487		692	1591	2283	SO:0001628	intergenic_variant	390084					integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5989487C>T																													11.37:g.5989487C>T							p.V80I	NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN			0	238	-			80						Missense_Mutation	SNP		37	c.238G>A																																																																																				0	0.532									40	72	0	0	0	1	0	40	72				
RAVER1	125950	broad.mit.edu	37	19	10431412	10431412	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr19:10431412G>A	ENST00000293677.6	-	9	1821	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGAGCAGGCGGGACTTGAGCT	0.697																																						uc002moa.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1738-1740)tcC>tcT		Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.							4.0	5.0	5.0					19																	10431412		1887	4004	5891	SO:0001819	synonymous_variant	125950					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding	g.chr19:10431412G>A		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.1740C>T	19.37:g.10431412G>A						RAVER1_uc002mnz.3_5'Flank	p.S580S	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		8	1820	-			433					A6NMU4|Q8IY60|Q8TF24	Silent	SNP	ENST00000293677.6	37	c.1740C>T	CCDS45960.1																																																																																				0.697	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		3	19	0	0	0	1	0	3	19				
SOX14	8403	broad.mit.edu	37	3	137484265	137484265	+	Silent	SNP	G	G	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:137484265G>A	ENST00000306087.1	+	1	687	c.639G>A	c.(637-639)caG>caA	p.Q213Q		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	213					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CCACCCTGCAGCCCCCCGTCG	0.657																																						uc003erm.2																			0				large_intestine(2)|lung(12)	14						c.(637-639)caG>caA		Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.							44.0	33.0	37.0					3																	137484265		2202	4293	6495	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484265G>A	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.639G>A	3.37:g.137484265G>A							p.Q213Q	NM_004189	NP_004180	O95416	SOX14_HUMAN			0	1132	+			213					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.639G>A	CCDS3094.1																																																																																				0.657	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		4	72	0	0	0	1	0	4	72				
GJA4	2701	broad.mit.edu	37	1	35260771	35260771	+	Silent	SNP	C	C	G			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:35260771C>G	ENST00000342280.4	+	2	1045	c.957C>G	c.(955-957)ccC>ccG	p.P319P		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	319			P -> S (in allele CX37*2; dbSNP:rs1764391). {ECO:0000269|PubMed:10447790, ECO:0000269|PubMed:10728596, ECO:0000269|Ref.3, ECO:0000269|Ref.4}.		blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCAAAAACCCCCAAGTCGTC	0.587																																						uc009vul.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(1183-1185)ccC>ccG		Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.							43.0	41.0	42.0					1																	35260771		2203	4300	6503	SO:0001819	synonymous_variant	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260771C>G	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.957C>G	1.37:g.35260771C>G						GJA4_uc001bya.3_Silent_p.P319P|GJA4_uc009vum.1_Silent_p.P319P|GJA4_uc021olb.1_Silent_p.P319P	p.P395P	NM_002060	NP_002051	P35212	CXA4_HUMAN			1	1209	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	319					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	ENST00000342280.4	37	c.1185C>G	CCDS30669.1																																																																																				0.587	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		13	51	0	0	0	1	0	13	51				
MAATS1	89876	broad.mit.edu	37	3	119462867	119462867	+	Silent	SNP	C	C	T			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr3:119462867C>T	ENST00000273390.5	+	14	1803	c.1726C>T	c.(1726-1728)Cta>Tta	p.L576L	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	412						mitochondrion (GO:0005739)											AGGAAGGGCACTAGCAGACAT	0.488																																						uc003ede.4																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1726-1728)Cta>Tta		Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.							94.0	81.0	86.0					3																	119462867		2203	4300	6503	SO:0001819	synonymous_variant	89876					mitochondrion	protein binding	g.chr3:119462867C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1726C>T	3.37:g.119462867C>T						C3orf15_uc010hqz.3_Silent_p.L514L|C3orf15_uc011bjd.2_Silent_p.L450L|C3orf15_uc011bje.2_Silent_p.L556L	p.L576L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	13	1803	+			412					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Silent	SNP	ENST00000273390.5	37	c.1726C>T	CCDS2994.1																																																																																				0.488	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		54	60	0	0	0	1	0	54	60				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	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						p.V600E	NM_004333	NP_004324	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		26	44	0	0	0	1	0	26	44				
SCN3A	6328	broad.mit.edu	37	2	165952089	165952089	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr2:165952089C>A	ENST00000360093.3	-	25	4854	c.4363G>T	c.(4363-4365)Ggg>Tgg	p.G1455W	SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.G1406W|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1455W	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1455					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGAATGACCCAAAGATGATA	0.284																																						uc002ucx.3																			0		p.F1454S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4363-4365)Ggg>Tgg		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						84.0	81.0	82.0					2																	165952089		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952089C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4363G>T	2.37:g.165952089C>A	ENSP00000353206:p.Gly1455Trp					SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.G1406W|SCN3A_uc002ucz.3_Missense_Mutation_p.G1406W	p.G1455W	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			24	4855	-			1455					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4363G>T		.	.	.	.	.	.	.	.	.	.	C	26.2	4.714492	0.89112	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.98947	-5.26;-5.26;-5.26	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.99946	5.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96917	0.9671	10	0.87932	D	0	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1406;1406;1455	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	W	1455;1455;1406	ENSP00000353206:G1455W;ENSP00000283254:G1455W;ENSP00000386726:G1406W	ENSP00000283254:G1455W	G	-	1	0	SCN3A	165660335	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	GGG		0.284	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		3	56	0	0	0	1	0	3	56				
NBPF10	100132406	broad.mit.edu	37	1	145328378	145328378	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr1:145328378T>C	ENST00000342960.5	+	33	4261	c.4226T>C	c.(4225-4227)aTt>aCt	p.I1409T	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTGCAGGAATTAAAAAGGAC	0.463																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4225-4227)aTt>aCt		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145328378T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4226T>C	1.37:g.145328378T>C	ENSP00000345684:p.Ile1409Thr					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	p.I1409T	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4261	+	all_hematologic(923;0.032)		1409					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4226T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.025	-1.378962	0.01204	.	.	ENSG00000163386	ENST00000342960	T	0.03413	3.94	.	.	.	.	.	.	.	.	T	0.00936	0.0031	L	0.41961	1.31	0.09310	N	1	.	.	.	.	.	.	T	0.46303	-0.9201	5	0.15952	T	0.53	.	.	.	.	.	.	.	.	T	1409	ENSP00000345684:I1409T	ENSP00000345684:I1409T	I	+	2	0	NBPF10	144039735	0.026000	0.19158	0.003000	0.11579	0.398000	0.30690	-0.605000	0.05661	-0.819000	0.04323	0.128000	0.15822	ATT		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	51	0	0	0	1	0	3	51				
HAP1	9001	broad.mit.edu	37	17	39888235	39888237	+	In_Frame_Del	DEL	CTT	CTT	-	rs150945451	byFrequency	TCGA-J8-A3NZ-01A-11D-A21A-08	TCGA-J8-A3NZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862a2fcb-d576-4e6f-9a5e-fbd57fed25f0	0dbbbd24-6a84-45d4-aec5-6e394cb1c1b2	g.chr17:39888235_39888237delCTT	ENST00000310778.5	-	4	857_859	c.848_850delAAG	c.(847-852)gaagca>gca	p.E283del	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_In_Frame_Del_p.E283del|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000393939.2_In_Frame_Del_p.E283del|HAP1_ENST00000341193.5_In_Frame_Del_p.E291del			P54257	HAP1_HUMAN	huntingtin-associated protein 1	283	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			tcttcctctgcttcttcttcttc	0.507																																						uc002hxm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(847-852)gaagca>gca		Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.			,,	1,4253		0,1,2126					,,	-0.5	0.0			191	11,8241		0,11,4115	no	coding,coding,coding	HAP1	NM_177977.2,NM_001079871.1,NM_001079870.1	,,	0,12,6241	A1A1,A1R,RR		0.1333,0.0235,0.096	,,	,,		12,12494				SO:0001651	inframe_deletion	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39888235_39888237delCTT	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.848_850delAAG	17.37:g.39888244_39888246delCTT	ENSP00000309392:p.Glu283del					JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_In_Frame_Del_p.E283del|HAP1_uc002hxo.1_In_Frame_Del_p.E291del|HAP1_uc002hxp.1_In_Frame_Del_p.E283del	p.E283del	NM_177977	NP_817084	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		3	860_862	-		Breast(137;0.000162)	283			Glu-rich.|HAP1 N-terminal.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	In_Frame_Del	DEL	ENST00000310778.5	37	c.848_850delAAG																																																																																					0.507	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949		2	4						2	4	---	---	---	---
