#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
ZNF232	7775	broad.mit.edu	37	17	5009595	5009595	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:5009595T>C	ENST00000250076.3	-	5	1513	c.859A>G	c.(859-861)Agg>Ggg	p.R287G	ZNF232_ENST00000575898.1_Missense_Mutation_p.R278G|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	260					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ACCATCTGCCTGAAACTTTCC	0.453																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(859-861)Agg>Ggg		zinc finger protein 232							99.0	99.0	99.0					17																	5009595		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009595T>C	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.859A>G	17.37:g.5009595T>C	ENSP00000250076:p.Arg287Gly					ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.R278G	p.R287G	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			5	1513	-			260						Missense_Mutation	SNP	ENST00000250076.3	37	c.859A>G	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	T	4.296	0.054088	0.08291	.	.	ENSG00000167840	ENST00000250076	T	0.00760	5.73	2.99	0.618	0.17624	.	0.000000	0.34986	N	0.003539	T	0.00637	0.0021	L	0.37630	1.12	0.35160	D	0.770559	B;B	0.09022	0.001;0.002	B;B	0.09377	0.001;0.004	T	0.53034	-0.8495	10	0.30854	T	0.27	.	2.3312	0.04236	0.2182:0.2805:0.0:0.5013	.	260;251	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	G	287	ENSP00000250076:R287G	ENSP00000250076:R287G	R	-	1	2	ZNF232	4950319	0.027000	0.19231	0.027000	0.17364	0.214000	0.24535	0.091000	0.15046	0.080000	0.16959	0.533000	0.62120	AGG		0.453	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		4	111	0	0	0	1	0	4	111				
PANK1	53354	broad.mit.edu	37	10	91371708	91371708	+	Silent	SNP	C	C	G			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr10:91371708C>G	ENST00000307534.4	-	2	956	c.801G>C	c.(799-801)gtG>gtC	p.V267V	PANK1_ENST00000342512.3_Silent_p.V42V|PANK1_ENST00000371774.2_Silent_p.V69V|PANK1_ENST00000322191.6_Silent_p.V42V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	267					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TCAGGTTCTCCACTTCCTCTT	0.473																																						ENST00000307534.4																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						c.(799-801)gtG>gtC		pantothenate kinase 1	Bezafibrate(DB01393)						116.0	105.0	108.0					10																	91371708		2203	4300	6503	SO:0001819	synonymous_variant	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91371708C>G	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.801G>C	10.37:g.91371708C>G						PANK1_ENST00000371774.2_Silent_p.V69V|PANK1_ENST00000342512.3_Silent_p.V42V|PANK1_ENST00000322191.6_Silent_p.V42V	p.V267V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN			2	956	-			267					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	c.801G>C	CCDS31244.1																																																																																				0.473	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	79	0	0	0	1	0	11	79				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	50	0	0	0	1	0	3	50				
NME8	51314	broad.mit.edu	37	7	37903970	37903970	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr7:37903970A>C	ENST00000199447.4	+	9	847	c.475A>C	c.(475-477)Att>Ctt	p.I159L	NME8_ENST00000440017.1_Missense_Mutation_p.I159L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	159	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CAGTATTGCTATTATCAAACC	0.279																																						ENST00000199447.4																			0											c.(475-477)Att>Ctt		NME/NM23 family member 8							24.0	26.0	25.0					7																	37903970		2193	4287	6480	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903970A>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.475A>C	7.37:g.37903970A>C	ENSP00000199447:p.Ile159Leu					EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.I159L	p.I159L	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			9	847	+			159			NDK 1.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.475A>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.969137	0.53614	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T;T	0.54071	0.96;0.59;0.96	4.65	-0.876	0.10624	.	0.379512	0.21928	N	0.067074	T	0.48429	0.1499	L	0.52905	1.665	0.09310	N	1	P	0.42556	0.783	P	0.50617	0.646	T	0.40478	-0.9561	10	0.20519	T	0.43	-16.6801	4.6962	0.12804	0.5844:0.156:0.2596:0.0	.	159	Q8N427	TXND3_HUMAN	L	159;104;104;159	ENSP00000199447:I159L;ENSP00000390596:I104L;ENSP00000397063:I159L	ENSP00000199447:I159L	I	+	1	0	TXNDC3	37870495	0.646000	0.27295	0.009000	0.14445	0.076000	0.17211	1.051000	0.30417	-0.221000	0.09973	-0.374000	0.07098	ATT		0.279	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		3	13	0	0	0	1	0	3	13				
LRRC8C	84230	broad.mit.edu	37	1	90178510	90178510	+	Silent	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr1:90178510C>T	ENST00000370454.4	+	3	636	c.381C>T	c.(379-381)ttC>ttT	p.F127F	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	127					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCAAGTATTTCCCTTACCTTG	0.433																																						ENST00000370454.4																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28						c.(379-381)ttC>ttT		leucine rich repeat containing 8 family, member C							143.0	138.0	140.0					1																	90178510		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90178510C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.381C>T	1.37:g.90178510C>T						RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	p.F127F	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	636	+		all_lung(203;0.126)	127					B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.381C>T	CCDS725.1																																																																																				0.433	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		14	150	0	0	0	1	0	14	150				
GPC5	2262	broad.mit.edu	37	13	92345964	92345964	+	Silent	SNP	G	G	A	rs147274494	byFrequency	TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr13:92345964G>A	ENST00000377067.3	+	3	1221	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	283					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCCTGGCGCACATGGCGG	0.552																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(847-849)gcG>gcA		glypican 5		G		0,4406		0,0,2203	113.0	100.0	104.0		849	-11.2	0.5	13	dbSNP_134	104	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	GPC5	NM_004466.4		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		283/573	92345964	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92345964G>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.849G>A	13.37:g.92345964G>A							p.A283A	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			3	1221	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	283					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.849G>A	CCDS9468.1																																																																																				0.552	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		13	84	0	0	0	1	0	13	84				
HELZ2	85441	broad.mit.edu	37	20	62196338	62196338	+	Silent	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr20:62196338C>T	ENST00000467148.1	-	8	3906	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	HELZ2_ENST00000427522.2_Silent_p.P710P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1279					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGATGCCCAGCGGGTAGTAGA	0.687																																						ENST00000467148.1																			0											c.(3835-3837)ccG>ccA		helicase with zinc finger 2, transcriptional coactivator							13.0	16.0	15.0					20																	62196338		2176	4289	6465	SO:0001819	synonymous_variant	85441							g.chr20:62196338C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3837G>A	20.37:g.62196338C>T						HELZ2_ENST00000427522.2_Silent_p.P710P	p.P1279P	NM_001037335.2	NP_001032412.2					8	3906	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.3837G>A	CCDS33508.1																																																																																				0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		3	28	0	0	0	1	0	3	28				
FRMD3	257019	broad.mit.edu	37	9	85863147	85863147	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:85863147A>C	ENST00000304195.3	-	14	1686	c.1480T>G	c.(1480-1482)Ttg>Gtg	p.L494V	FRMD3_ENST00000328788.1_Missense_Mutation_p.L151V|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494V|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCAGCAATCAAAAAGGCGTTT	0.478																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1480-1482)Ttg>Gtg		FERM domain containing 3							130.0	129.0	130.0					9																	85863147		1962	4160	6122	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863147A>C	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1480T>G	9.37:g.85863147A>C	ENSP00000303508:p.Leu494Val					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.L151V|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494V|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300V	p.L494V	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1686	-			494					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1480T>G	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	4.706	0.131342	0.08981	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86164	-1.67;-2.08;0.81;-1.67	5.72	-4.87	0.03123	.	0.251398	0.35495	N	0.003172	D	0.87277	0.6137	L	0.43152	1.355	0.25610	N	0.986502	P;P;D	0.71674	0.9;0.884;0.998	B;B;D	0.77557	0.219;0.256;0.99	T	0.81822	-0.0756	10	0.30078	T	0.28	.	12.2418	0.54546	0.3842:0.0:0.527:0.0888	.	494;494;151	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	V	494;300;151;494	ENSP00000365621:L494V;ENSP00000365617:L300V;ENSP00000328615:L151V;ENSP00000303508:L494V	ENSP00000303508:L494V	L	-	1	2	FRMD3	85052967	0.111000	0.22076	0.846000	0.33378	0.915000	0.54546	-0.592000	0.05747	-1.388000	0.02092	-1.139000	0.01908	TTG		0.478	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		20	150	0	0	0	1	0	20	150				
KLHDC4	54758	broad.mit.edu	37	16	87788845	87788845	+	Silent	SNP	G	G	T	rs374665017		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr16:87788845G>T	ENST00000270583.5	-	4	382	c.324C>A	c.(322-324)acC>acA	p.T108T	KLHDC4_ENST00000353170.5_Silent_p.T51T|KLHDC4_ENST00000347925.5_Silent_p.T108T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	108										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TGTCAACTTTGGTCCAGGTGT	0.502																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(322-324)acC>acA		kelch domain containing 4							212.0	193.0	199.0					16																	87788845		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87788845G>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.324C>A	16.37:g.87788845G>T						KLHDC4_ENST00000353170.5_Silent_p.T51T|KLHDC4_ENST00000347925.5_Silent_p.T108T	p.T108T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	4	382	-			108					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.324C>A	CCDS10963.1																																																																																				0.502	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		10	47	1	0	3.86212e-05	1	4.06018e-05	10	47				
OR11A1	26531	broad.mit.edu	37	6	29395335	29395335	+	Silent	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr6:29395335C>T	ENST00000377149.1	-	5	556	c.84G>A	c.(82-84)ttG>ttA	p.L28L	OR11A1_ENST00000377147.2_Silent_p.L28L|OR11A1_ENST00000377148.1_Silent_p.L28L|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAATAAAAAACAAGAAATGCA	0.408																																						ENST00000377149.1																			0				cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(82-84)ttG>ttA		olfactory receptor, family 11, subfamily A, member 1							74.0	74.0	74.0					6																	29395335		1510	2708	4218	SO:0001819	synonymous_variant	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395335C>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.84G>A	6.37:g.29395335C>T						OR11A1_ENST00000377148.1_Silent_p.L28L|OR11A1_ENST00000377147.2_Silent_p.L28L|OR5V1_ENST00000377154.1_Intron	p.L28L			Q9GZK7	O11A1_HUMAN			5	556	-			28					A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	c.84G>A	CCDS34363.1																																																																																				0.408	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			4	83	0	0	0	1	0	4	83				
MGA	23269	broad.mit.edu	37	15	42035035	42035035	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr15:42035035C>T	ENST00000570161.1	+	14	4877	c.4877C>T	c.(4876-4878)aCt>aTt	p.T1626I	MGA_ENST00000219905.7_Missense_Mutation_p.T1626I|MGA_ENST00000389936.4_Missense_Mutation_p.T1626I|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTAAAGAAACTACTTATTCT	0.448																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4876-4878)aCt>aTt		MGA, MAX dimerization protein							82.0	79.0	80.0					15																	42035035		1882	4115	5997	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42035035C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4877C>T	15.37:g.42035035C>T	ENSP00000457035:p.Thr1626Ile					MGA_ENST00000389936.4_Missense_Mutation_p.T1626I|MGA_ENST00000566586.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.T1626I|MGA_ENST00000545763.1_Intron	p.T1626I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	15	5058	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1626			Thr-rich.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.4877C>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283566	0.59867	.	.	ENSG00000174197	ENST00000219905;ENST00000389936	D;D	0.84516	-1.86;-1.78	4.96	4.96	0.65561	.	1.675130	0.03485	N	0.215708	T	0.74535	0.3729	N	0.08118	0	0.80722	D	1	P;P	0.40476	0.718;0.578	B;B	0.33890	0.172;0.172	T	0.60490	-0.7253	10	0.20046	T	0.44	.	16.5776	0.84705	0.0:1.0:0.0:0.0	.	242;1626	B4DVS1;E7ENI0	.;.	I	1626	ENSP00000219905:T1626I;ENSP00000374586:T1626I	ENSP00000219905:T1626I	T	+	2	0	MGA	39822327	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.832000	0.62759	2.577000	0.86979	0.563000	0.77884	ACT		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		8	78	0	0	0	1	0	8	78				
FRMD3	257019	broad.mit.edu	37	9	85863145	85863145	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:85863145C>G	ENST00000304195.3	-	14	1688	c.1482G>C	c.(1480-1482)ttG>ttC	p.L494F	FRMD3_ENST00000328788.1_Missense_Mutation_p.L151F|FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494F|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	494						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCAAAAAGGCGT	0.468																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1480-1482)ttG>ttC		FERM domain containing 3							127.0	127.0	127.0					9																	85863145		1966	4161	6127	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85863145C>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1482G>C	9.37:g.85863145C>G	ENSP00000303508:p.Leu494Phe					FRMD3_ENST00000465485.1_5'UTR|FRMD3_ENST00000328788.1_Missense_Mutation_p.L151F|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494F|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300F	p.L494F	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			14	1688	-			494					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1482G>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	7.376	0.627745	0.14257	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000328788;ENST00000304195	D;D;T;D	0.86366	-1.71;-2.11;0.76;-1.71	5.72	4.78	0.61160	.	0.251398	0.35495	N	0.003172	D	0.90947	0.7154	L	0.54323	1.7	0.38104	D	0.937362	D;D;D	0.89917	0.985;0.982;1.0	P;P;D	0.85130	0.724;0.764;0.997	D	0.91882	0.5516	10	0.56958	D	0.05	.	11.7183	0.51666	0.0:0.8454:0.0:0.1546	.	494;494;151	A2A2Y4;A2A2Y4-2;A2A2Y4-4	FRMD3_HUMAN;.;.	F	494;300;151;494	ENSP00000365621:L494F;ENSP00000365617:L300F;ENSP00000328615:L151F;ENSP00000303508:L494F	ENSP00000303508:L494F	L	-	3	2	FRMD3	85052965	1.000000	0.71417	0.988000	0.46212	0.937000	0.57800	4.606000	0.61126	1.319000	0.45190	0.655000	0.94253	TTG		0.468	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		20	148	0	0	0	1	0	20	148				
OR6T1	219874	broad.mit.edu	37	11	123814182	123814182	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr11:123814182G>A	ENST00000321252.2	-	1	398	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122S(1)|p.R122C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527																																						ENST00000321252.2																			2	Substitution - Missense(2)	p.R122S(1)|p.R122C(1)	kidney(1)|skin(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(364-366)Cgt>Tgt		olfactory receptor, family 6, subfamily T, member 1							89.0	75.0	80.0					11																	123814182		2202	4299	6501	SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123814182G>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.364C>T	11.37:g.123814182G>A	ENSP00000325203:p.Arg122Cys						p.R122C	NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	398	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	122					Q6IFE7	Missense_Mutation	SNP	ENST00000321252.2	37	c.364C>T	CCDS31700.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899531	0.52227	.	.	ENSG00000181499	ENST00000321252	T	0.77358	-1.09	3.85	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.87410	0.6170	M	0.85462	2.755	0.34811	D	0.737747	D	0.89917	1.0	D	0.91635	0.999	D	0.90045	0.4145	9	0.66056	D	0.02	-40.5181	10.1214	0.42623	0.0:0.0:0.7982:0.2018	.	122	Q8NGN1	OR6T1_HUMAN	C	122	ENSP00000325203:R122C	ENSP00000325203:R122C	R	-	1	0	OR6T1	123319392	0.791000	0.28800	0.018000	0.16275	0.986000	0.74619	1.792000	0.38754	0.768000	0.33290	0.563000	0.77884	CGT		0.527	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		3	34	0	0	0	1	0	3	34				
ZNF644	84146	broad.mit.edu	37	1	91406702	91406702	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr1:91406702T>A	ENST00000370440.1	-	3	426	c.209A>T	c.(208-210)aAt>aTt	p.N70I	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N70I|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	70					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTCAACGTATTATTTTTCTG	0.393																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(208-210)aAt>aTt		zinc finger protein 644							157.0	151.0	153.0					1																	91406702		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91406702T>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.209A>T	1.37:g.91406702T>A	ENSP00000359469:p.Asn70Ile					ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N70I|ZNF644_ENST00000467231.1_Intron	p.N70I			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	426	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	70					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.209A>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.476	1.096858	0.20552	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00608	6.25;6.25	5.91	-0.221	0.13126	.	0.402683	0.26411	N	0.024539	T	0.00210	0.0006	N	0.24115	0.695	0.38624	D	0.951213	B	0.34103	0.437	B	0.32289	0.143	T	0.66440	-0.5923	10	0.87932	D	0	-2.3517	10.1787	0.42955	0.0:0.437:0.0:0.563	.	70	Q9H582	ZN644_HUMAN	I	70	ENSP00000359469:N70I;ENSP00000337008:N70I	ENSP00000337008:N70I	N	-	2	0	ZNF644	91179290	0.484000	0.25964	0.034000	0.17996	0.787000	0.44495	0.033000	0.13754	-0.272000	0.09259	-0.256000	0.11100	AAT		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		14	94	0	0	0	1	0	14	94				
MAP4K2	5871	broad.mit.edu	37	11	64559403	64559403	+	Silent	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr11:64559403C>T	ENST00000294066.2	-	27	2161	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	MAP4K2_ENST00000377350.3_Silent_p.T682T	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	690	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGATGTCGGGCGTCAGGCCAG	0.692																																						ENST00000294066.2																			0				cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						c.(2068-2070)acG>acA		mitogen-activated protein kinase kinase kinase kinase 2							11.0	13.0	13.0					11																	64559403		2187	4283	6470	SO:0001819	synonymous_variant	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64559403C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2070G>A	11.37:g.64559403C>T						MAP4K2_ENST00000377350.3_Silent_p.T682T	p.T690T	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN			27	2161	-			690			CNH.		Q86VU3	Silent	SNP	ENST00000294066.2	37	c.2070G>A	CCDS8082.1																																																																																				0.692	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		5	7	0	0	0	1	0	5	7				
SLC6A13	6540	broad.mit.edu	37	12	369173	369173	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr12:369173G>A	ENST00000343164.4	-	2	98	c.46C>T	c.(46-48)Cca>Tca	p.P16S	RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P16S|SLC6A13_ENST00000436453.1_Missense_Mutation_p.P16S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	16					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGATACACTGGTTTTGTCTCT	0.517																																						ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(46-48)Cca>Tca		solute carrier family 6 (neurotransmitter transporter), member 13							203.0	189.0	194.0					12																	369173		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:369173G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.46C>T	12.37:g.369173G>A	ENSP00000339260:p.Pro16Ser					SLC6A13_ENST00000436453.1_Missense_Mutation_p.P16S|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P16S	p.P16S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		2	98	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		16					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.46C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	7.879	0.729754	0.15507	.	.	ENSG00000010379	ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453	T;T;T;T	0.73047	-0.7;-0.71;0.12;0.44	5.94	4.08	0.47627	.	0.770957	0.12320	N	0.479312	T	0.49440	0.1557	N	0.19112	0.55	0.19300	N	0.99997	B;P;B	0.40731	0.001;0.728;0.0	B;B;B	0.35114	0.002;0.196;0.001	T	0.24083	-1.0170	10	0.07813	T	0.8	.	10.2229	0.43207	0.067:0.2592:0.6738:0.0	.	16;16;16	B4DJL1;Q8WW56;Q9NSD5	.;.;S6A13_HUMAN	S	16	ENSP00000407104:P16S;ENSP00000339260:P16S;ENSP00000444606:P16S;ENSP00000389316:P16S	ENSP00000339260:P16S	P	-	1	0	SLC6A13	239434	0.999000	0.42202	0.170000	0.22879	0.058000	0.15608	2.760000	0.47581	0.806000	0.34183	0.563000	0.77884	CCA		0.517	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		20	179	0	0	0	1	0	20	179				
NELFB	25920	broad.mit.edu	37	9	140157669	140157669	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:140157669C>T	ENST00000343053.4	+	5	1115	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	260					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GGACCCGTGCCACAAGGTAGC	0.662																																						ENST00000343053.4																			0											c.(778-780)Cac>Tac		negative elongation factor complex member B							138.0	120.0	126.0					9																	140157669		2203	4300	6503	SO:0001583	missense	25920							g.chr9:140157669C>T	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.778C>T	9.37:g.140157669C>T	ENSP00000339495:p.His260Tyr						p.H260Y	NM_015456.3	NP_056271.2					5	1115	+								A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.778C>T	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	c	14.86	2.662841	0.47572	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76353	-0.2990	9	0.41790	T	0.15	-41.7143	16.8077	0.85710	0.0:1.0:0.0:0.0	.	260	Q8WX92	NELFB_HUMAN	Y	260	.	ENSP00000339495:H260Y	H	+	1	0	COBRA1	139277490	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	7.741000	0.84997	2.285000	0.76669	0.298000	0.19748	CAC		0.662	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		11	67	0	0	0	1	0	11	67				
L1CAM	3897	broad.mit.edu	37	X	153136389	153136389	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chrX:153136389G>A	ENST00000370060.1	-	7	739	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	L1CAM_ENST00000538883.1_Missense_Mutation_p.R186W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R184W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R179W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R186W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R179W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R184W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	184	Ig-like C2-type 2.		R -> Q (in HSAS; severe). {ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:9195224}.|R -> W (in HSAS). {ECO:0000269|PubMed:10797421}.		axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTCACCCGCTCGTCCTGC	0.612																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	GRCh37	CM064090|CM960913	L1CAM	M		c.(550-552)Cgg>Tgg		L1 cell adhesion molecule							199.0	139.0	159.0					X																	153136389		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153136389G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.550C>T	X.37:g.153136389G>A	ENSP00000359077:p.Arg184Trp					L1CAM_ENST00000361699.4_Missense_Mutation_p.R184W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R184W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R179W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R179W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R186W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R186W	p.R184W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			7	739	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		184		R -> Q (in HSAS; severe).|R -> W (in HSAS).	Ig-like C2-type 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.550C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819448	0.71028	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000540065;ENST00000370055;ENST00000361699	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.57	3.69	0.42338	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000035	D	0.93044	0.7786	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.992;1.0	D	0.94038	0.7307	10	0.87932	D	0	.	12.2438	0.54558	0.0:0.0:0.8283:0.1716	.	179;184;184	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	W	184;186;184;186;179;54;179;184	ENSP00000359077:R184W;ENSP00000438430:R186W;ENSP00000359074:R184W;ENSP00000439645:R186W;ENSP00000354712:R179W;ENSP00000359072:R179W;ENSP00000355380:R184W	ENSP00000355380:R184W	R	-	1	2	L1CAM	152789583	0.989000	0.36119	0.999000	0.59377	0.622000	0.37654	1.997000	0.40786	1.029000	0.39812	0.436000	0.28706	CGG		0.612	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		16	74	0	0	0	1	0	16	74				
CDC42BPB	9578	broad.mit.edu	37	14	103416203	103416203	+	Silent	SNP	G	G	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr14:103416203G>T	ENST00000361246.2	-	26	3636	c.3348C>A	c.(3346-3348)cgC>cgA	p.R1116R		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCATATGCGCGCTGCCATC	0.557																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(3346-3348)cgC>cgA		CDC42 binding protein kinase beta (DMPK-like)							132.0	125.0	128.0					14																	103416203		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103416203G>T	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.3348C>A	14.37:g.103416203G>T							p.R1116R	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	26	3636	-		Melanoma(154;0.155)	1116			PH.			Silent	SNP	ENST00000361246.2	37	c.3348C>A	CCDS9978.1																																																																																				0.557	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		18	115	1	0	3.51602e-12	1	3.89613e-12	18	115				
ANKRD17	26057	broad.mit.edu	37	4	73951097	73951097	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr4:73951097G>A	ENST00000358602.4	-	30	7144	c.7028C>T	c.(7027-7029)gCt>gTt	p.A2343V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2343					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGTTTGAAGCAAAGTTTCC	0.428																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(7027-7029)gCt>gTt		ankyrin repeat domain 17							108.0	110.0	109.0					4																	73951097		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73951097G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7028C>T	4.37:g.73951097G>A	ENSP00000351416:p.Ala2343Val					ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V	p.A2343V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		30	7144	-	Breast(15;0.000295)		2343					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.7028C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807817	0.70797	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.69561	-0.41;-0.39;-0.36	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000003	T	0.78246	0.4253	L	0.43152	1.355	0.42167	D	0.991628	D;D;D;D	0.67145	0.996;0.996;0.993;0.993	D;D;D;D	0.73380	0.98;0.98;0.956;0.935	T	0.78406	-0.2216	10	0.72032	D	0.01	.	20.4375	0.99097	0.0:0.0:1.0:0.0	.	2342;2092;2343;2230	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	2343;1750;2092;2230;727	ENSP00000351416:A2343V;ENSP00000332265:A2092V;ENSP00000427151:A2230V	ENSP00000332265:A2092V	A	-	2	0	ANKRD17	74169961	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.103000	0.77014	2.906000	0.99361	0.655000	0.94253	GCT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		4	161	0	0	0	1	0	4	161				
ZAP70	7535	broad.mit.edu	37	2	98349377	98349377	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr2:98349377G>A	ENST00000264972.5	+	5	810	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A73T|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	199	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGCACATACGCCCTGTCCCT	0.627																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(595-597)Gcc>Acc		zeta-chain (TCR) associated protein kinase 70kDa							94.0	71.0	79.0					2																	98349377		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98349377G>A	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.595G>A	2.37:g.98349377G>A	ENSP00000264972:p.Ala199Thr					ZAP70_ENST00000442208.1_Missense_Mutation_p.A73T|ZAP70_ENST00000463643.1_3'UTR	p.A199T	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			5	810	+			199			SH2 2.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.595G>A	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396875	0.96009	.	.	ENSG00000115085	ENST00000264972;ENST00000442208	D;D	0.87029	-2.2;-2.2	5.61	5.61	0.85477	SH2 motif (5);	0.000000	0.49916	D	0.000130	D	0.88555	0.6468	N	0.21282	0.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63877	0.919;0.918	D	0.89754	0.3942	10	0.72032	D	0.01	.	17.5077	0.87750	0.0:0.0:1.0:0.0	.	73;199	P43403-3;P43403	.;ZAP70_HUMAN	T	199;73	ENSP00000264972:A199T;ENSP00000411141:A73T	ENSP00000264972:A199T	A	+	1	0	ZAP70	97715809	1.000000	0.71417	0.465000	0.27155	0.924000	0.55760	7.649000	0.83500	2.808000	0.96608	0.655000	0.94253	GCC		0.627	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			5	59	0	0	0	1	0	5	59				
NOS3	4846	broad.mit.edu	37	7	150699374	150699374	+	Silent	SNP	T	T	C			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr7:150699374T>C	ENST00000484524.1	+	13	1734	c.1734T>C	c.(1732-1734)gaT>gaC	p.D578D	NOS3_ENST00000461406.1_Silent_p.D372D|NOS3_ENST00000297494.3_Silent_p.D578D|NOS3_ENST00000467517.1_Silent_p.D578D	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAATGGGGATCCCCCGGAGA	0.562																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1732-1734)gaT>gaC		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						50.0	42.0	45.0					7																	150699374		2202	4296	6498	SO:0001819	synonymous_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699374T>C		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1734T>C	7.37:g.150699374T>C						NOS3_ENST00000461406.1_Silent_p.D372D|NOS3_ENST00000467517.1_Silent_p.D578D|NOS3_ENST00000484524.1_Silent_p.D578D	p.D578D	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	2091	+	all_neural(206;0.219)		578			Flavodoxin-like.		Q495E5	Silent	SNP	ENST00000484524.1	37	c.1734T>C	CCDS55182.1																																																																																				0.562	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		3	10	0	0	0	1	0	3	10				
TATDN1	83940	broad.mit.edu	37	8	125535240	125535240	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr8:125535240A>G	ENST00000276692.6	-	2	63	c.26T>C	c.(25-27)aTt>aCt	p.I9T	TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000605953.1_Missense_Mutation_p.I9T|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	9					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGATACCAATATCTGTAGA	0.328																																						ENST00000276692.6																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(25-27)aTt>aCt		TatD DNase domain containing 1							76.0	81.0	79.0					8																	125535240		2203	4300	6503	SO:0001583	missense	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125535240A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.26T>C	8.37:g.125535240A>G	ENSP00000276692:p.Ile9Thr					TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000605953.1_Missense_Mutation_p.I9T	p.I9T	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	63	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		9					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.26T>C	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	a	18.84	3.709440	0.68730	.	.	ENSG00000147687	ENST00000276692;ENST00000522810	.	.	.	5.54	4.38	0.52667	.	0.048370	0.85682	N	0.000000	T	0.76090	0.3939	M	0.75777	2.31	0.80722	D	1	P;D	0.67145	0.803;0.996	P;D	0.73708	0.539;0.981	T	0.76503	-0.2935	9	0.51188	T	0.08	-14.4509	11.1089	0.48221	0.9274:0.0:0.0726:0.0	.	9;9	E5RG17;Q6P1N9	.;TATD1_HUMAN	T	9	.	ENSP00000276692:I9T	I	-	2	0	TATDN1	125604421	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.427000	0.66483	1.036000	0.39998	-0.267000	0.10333	ATT		0.328	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		9	49	0	0	0	1	0	9	49				
RNF213	57674	broad.mit.edu	37	17	78328255	78328255	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:78328255G>A	ENST00000582970.1	+	36	10884	c.10741G>A	c.(10741-10743)Gta>Ata	p.V3581I	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V1654I|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3630I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3581					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCTTGCGGGTATCCAAGAT	0.552																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10741-10743)Gta>Ata		ring finger protein 213							98.0	91.0	94.0					17																	78328255		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78328255G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10741G>A	17.37:g.78328255G>A	ENSP00000464087:p.Val3581Ile					CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3630I|RNF213_ENST00000336301.6_Missense_Mutation_p.V1654I	p.V3581I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		36	10884	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10741G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	5.882	0.346833	0.11126	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23348	1.91	4.93	1.8	0.24995	.	0.533866	0.20025	N	0.100833	T	0.21103	0.0508	M	0.62723	1.935	0.09310	N	1	B;B	0.22146	0.018;0.065	B;B	0.16722	0.016;0.015	T	0.26985	-1.0087	10	0.13853	T	0.58	.	7.7552	0.28919	0.4727:0.0:0.5273:0.0	.	3630;1654	C9JCP4;Q63HN8	.;RN213_HUMAN	I	3581;3630;1654	ENSP00000338218:V1654I	ENSP00000338218:V1654I	V	+	1	0	RNF213	75942850	0.142000	0.22610	0.014000	0.15608	0.252000	0.25951	1.379000	0.34340	0.503000	0.28060	0.650000	0.86243	GTA		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		11	96	0	0	0	1	0	11	96				
CAPN11	11131	broad.mit.edu	37	6	44144631	44144631	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr6:44144631C>A	ENST00000398776.1	+	11	1171	c.1133C>A	c.(1132-1134)aCg>aAg	p.T378K	CAPN11_ENST00000542245.1_Missense_Mutation_p.T378K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	378	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCAACCTCACGCCTGATACA	0.597																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1132-1134)aCg>aAg		calpain 11							198.0	193.0	195.0					6																	44144631		2092	4227	6319	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144631C>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1133C>A	6.37:g.44144631C>A	ENSP00000381758:p.Thr378Lys					CAPN11_ENST00000542245.1_Missense_Mutation_p.T378K	p.T378K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1171	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		378			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1133C>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183038	0.57800	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88201	-2.35;-2.35	4.55	1.46	0.22682	Peptidase C2, calpain, catalytic domain (3);	0.702507	0.12852	N	0.433875	D	0.93232	0.7844	M	0.93507	3.425	0.39076	D	0.960805	D;D	0.69078	0.987;0.997	D;P	0.64321	0.924;0.794	D	0.91828	0.5473	10	0.87932	D	0	.	9.3082	0.37887	0.0:0.7646:0.0:0.2354	.	32;378	B4DT90;Q9UMQ6	.;CAN11_HUMAN	K	378	ENSP00000381758:T378K;ENSP00000441078:T378K	ENSP00000381758:T378K	T	+	2	0	CAPN11	44252609	0.995000	0.38212	0.590000	0.28732	0.590000	0.36582	3.202000	0.51067	0.437000	0.26423	0.561000	0.74099	ACG		0.597	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			6	263	1	0	0.00198382	1	0.00203341	6	263				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	116	0	0	0	1	0	5	116				
UBN1	29855	broad.mit.edu	37	16	4910802	4910802	+	Missense_Mutation	SNP	C	C	T	rs368743671	byFrequency	TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr16:4910802C>T	ENST00000396658.4	+	6	1512	c.809C>T	c.(808-810)gCg>gTg	p.A270V	UBN1_ENST00000262376.6_Missense_Mutation_p.A270V|UBN1_ENST00000545171.1_Missense_Mutation_p.A270V|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.A270V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	270					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGCCTGTTGCGGTCCCATCA	0.498													C|||	3	0.000599042	0.0	0.0	5008	,	,		19888	0.0		0.0	False		,,,				2504	0.0031					ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(808-810)gCg>gTg		ubinuclein 1							128.0	117.0	121.0					16																	4910802		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910802C>T	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.809C>T	16.37:g.4910802C>T	ENSP00000379894:p.Ala270Val					UBN1_ENST00000262376.6_Missense_Mutation_p.A270V|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000590769.1_Missense_Mutation_p.A270V|UBN1_ENST00000545171.1_Missense_Mutation_p.A270V	p.A270V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1512	+			270					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.809C>T	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	2.613	-0.290364	0.05568	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.46451	1.43;0.87;1.43	5.77	-0.683	0.11335	.	0.637179	0.17167	N	0.184412	T	0.24160	0.0585	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.17868	-1.0355	10	0.23891	T	0.37	0.3154	11.0282	0.47757	0.0:0.4951:0.0:0.5049	.	270;270	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	V	270	ENSP00000262376:A270V;ENSP00000442379:A270V;ENSP00000379894:A270V	ENSP00000262376:A270V	A	+	2	0	UBN1	4850803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.028000	0.12350	-0.236000	0.09753	-1.202000	0.01658	GCG		0.498	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		4	113	0	0	0	1	0	4	113				
TMF1	7110	broad.mit.edu	37	3	69097585	69097585	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr3:69097585C>T	ENST00000398559.2	-	2	487	c.271G>A	c.(271-273)Gat>Aat	p.D91N	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|MIR3136_ENST00000583498.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.D91N			P82094	TMF1_HUMAN	TATA element modulatory factor 1	91					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCAGATTCATCGACCACAGTC	0.463																																						ENST00000543976.1																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(271-273)Gat>Aat		TATA element modulatory factor 1							209.0	202.0	204.0					3																	69097585		1933	4138	6071	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097585C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.271G>A	3.37:g.69097585C>T	ENSP00000381567:p.Asp91Asn					CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D91N|CTD-2013N24.2_ENST00000598783.1_RNA	p.D91N	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	2	517	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	91					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.271G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101879	0.94245	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.25749	1.79;1.78	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.32693	-0.9897	10	0.28530	T	0.3	-26.4945	20.0545	0.97645	0.0:1.0:0.0:0.0	.	91;91	P82094-2;P82094	.;TMF1_HUMAN	N	91	ENSP00000381567:D91N;ENSP00000438706:D91N	ENSP00000348582:D91N	D	-	1	0	TMF1	69180275	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	7.487000	0.81328	2.748000	0.94277	0.655000	0.94253	GAT		0.463	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		31	229	0	0	0	1	0	31	229				
DRD5	1816	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr4:9784063A>G	ENST00000304374.2	+	1	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	137					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.D137G(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ATCAGCGTGGACCGCTACTGG	0.612																																						ENST00000304374.2																			1	Substitution - Missense(1)	p.D137G(1)	prostate(1)	NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(409-411)gAc>gGc		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						42.0	40.0	41.0					4																	9784063		2203	4300	6503	SO:0001583	missense	0				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784063A>G	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.410A>G	4.37:g.9784063A>G	ENSP00000306129:p.Asp137Gly						p.D137G	NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN			1	806	+			137					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.410A>G	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	20.6	4.025892	0.75390	.	.	ENSG00000169676	ENST00000304374	D	0.85702	-2.02	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	H	0.98111	4.15	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96259	0.9189	10	0.87932	D	0	.	12.8864	0.58047	1.0:0.0:0.0:0.0	.	137	P21918	DRD5_HUMAN	G	137	ENSP00000306129:D137G	ENSP00000306129:D137G	D	+	2	0	DRD5	9393161	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.708000	0.91372	1.824000	0.53156	0.254000	0.18369	GAC		0.612	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1			3	44	0	0	0	1	0	3	44				
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			7	412						7	412	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-	rs372401787		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626																																						ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(472-477)gct>g		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618431_89618433delCCT	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.473_475delAGG	4.37:g.89618440_89618442delCCT	ENSP00000320488:p.Glu158del					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron	p.EA158del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	953_955	-			158			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.473_475delAGG	CCDS3632.1																																																																																				0.626	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		7	188						7	188	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		8	120						8	120	---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																						ENST00000308736.2																			3	Deletion - In frame(3)	p.E168delE(3)	breast(2)|prostate(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(502-504)del		DEAH (Asp-Glu-Ala-His) box polypeptide 37																																				SO:0001651	inframe_deletion	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465270_125465272delCTC	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del						p.E168del	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	600_602	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		168					Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	c.502_504delGAG	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		3	6						3	6	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13441098	13441098	+	Frame_Shift_Del	DEL	G	G	-	rs376451601		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr19:13441098delG	ENST00000360228.5	-	10	1304	c.1305delC	c.(1303-1305)cccfs	p.P435fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.P436fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	436					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCCTCTTCGGGGTTGAGCA	0.488																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1303-1305)ccfs		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						81.0	81.0	81.0					19																	13441098		1895	4121	6016	SO:0001589	frameshift_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13441098delG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1305delC	19.37:g.13441098delG	ENSP00000353362:p.Pro435fs					CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.P436fs	p.P435fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		10	1304	-			436					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Frame_Shift_Del	DEL	ENST00000360228.5	37	c.1305delC	CCDS45998.1																																																																																				0.488	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---
CYP4F8	11283	broad.mit.edu	37	19	15733290	15733291	+	RNA	DEL	GA	GA	-			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr19:15733290_15733291delGA	ENST00000441682.2	+	0	708							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						aggagagaaggagagagagaga	0.515																																						ENST00000441682.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26								cytochrome P450, family 4, subfamily F, polypeptide 8																																						11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15733290_15733291delGA	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15733300_15733301delGA										P98187	CP4F8_HUMAN			0	708	+									RNA	DEL	ENST00000441682.2	37																																																																																						0.515	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		4	2						4	2	---	---	---	---
