#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
DEGS2	123099	broad.mit.edu	37	14	100615601	100615601	+	Missense_Mutation	SNP	C	C	T	rs184833633	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr14:100615601C>T	ENST00000305631.5	-	2	1104	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				TTGGGGTGGACGCAGAGCGGC	0.667													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		16456	0.0		0.0	False		,,,				2504	0.0					ENST00000305631.5																			0				breast(1)|lung(6)|skin(1)	8						c.(529-531)Gtc>Atc		delta(4)-desaturase, sphingolipid 2							37.0	41.0	39.0					14																	100615601		2203	4296	6499	SO:0001583	missense	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615601C>T		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.529G>A	14.37:g.100615601C>T	ENSP00000307126:p.Val177Ile					DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	p.V177I	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN			2	1104	-		Melanoma(154;0.212)	177						Missense_Mutation	SNP	ENST00000305631.5	37	c.529G>A	CCDS9956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.922	0.354217	0.11182	.	.	ENSG00000168350	ENST00000305631	T	0.16897	2.31	4.62	3.66	0.41972	Fatty acid desaturase, type 1 (1);	0.116848	0.56097	D	0.000022	T	0.09905	0.0243	N	0.13327	0.33	0.80722	D	1	P	0.51653	0.947	B	0.42851	0.4	T	0.14117	-1.0484	10	0.07990	T	0.79	-13.3503	14.5123	0.67797	0.1468:0.8532:0.0:0.0	.	177	Q6QHC5	DEGS2_HUMAN	I	177	ENSP00000307126:V177I	ENSP00000307126:V177I	V	-	1	0	DEGS2	99685354	1.000000	0.71417	0.959000	0.39883	0.043000	0.13939	4.845000	0.62853	2.273000	0.75805	0.561000	0.74099	GTC		0.667	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		10	32	0	0	0	1	0	10	32				
UBAP1	51271	broad.mit.edu	37	9	34241443	34241443	+	Silent	SNP	G	G	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:34241443G>A	ENST00000297661.4	+	4	655	c.420G>A	c.(418-420)acG>acA	p.T140T	UBAP1_ENST00000379186.4_Silent_p.T140T|UBAP1_ENST00000359544.2_Silent_p.T140T|UBAP1_ENST00000536252.1_Silent_p.T140T|UBAP1_ENST00000540348.1_Silent_p.T140T|UBAP1_ENST00000543944.1_Silent_p.T176T|UBAP1_ENST00000545103.1_Silent_p.T204T	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	140					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTAGTGCCACGAAACAGAAAG	0.478																																					NSCLC(109;1074 1634 14978 20375 39620)	ENST00000536252.1																			0				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(418-420)acG>acA		ubiquitin associated protein 1							127.0	118.0	121.0					9																	34241443		2203	4300	6503	SO:0001819	synonymous_variant	51271					cytoplasm		g.chr9:34241443G>A	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.420G>A	9.37:g.34241443G>A						UBAP1_ENST00000379186.4_Silent_p.T140T|UBAP1_ENST00000297661.4_Silent_p.T140T|UBAP1_ENST00000545103.1_Silent_p.T204T|UBAP1_ENST00000543944.1_Silent_p.T176T|UBAP1_ENST00000359544.2_Silent_p.T140T|UBAP1_ENST00000540348.1_Silent_p.T140T	p.T140T	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		5	818	+			140					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Silent	SNP	ENST00000297661.4	37	c.420G>A	CCDS6550.1																																																																																				0.478	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			9	58	0	0	0	1	0	9	58				
ANKRD20A11P	391267	broad.mit.edu	37	21	15326405	15326405	+	RNA	SNP	C	C	T	rs8127713	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr21:15326405C>T	ENST00000344693.5	-	0	802					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TTTCCATTGACTATTCTGTTT	0.423													.|||	2400	0.479233	0.5182	0.5836	5008	,	,		19804	0.3651		0.4324	False		,,,				2504	0.5184					ENST00000344693.5																			0																																																			0							g.chr21:15326405C>T			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15326405C>T								NR_027270.1						0	802	-									RNA	SNP	ENST00000344693.5	37																																																																																						0.423	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			5	87	0	0	0	1	0	5	87				
RNF10	9921	broad.mit.edu	37	12	121001322	121001322	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr12:121001322A>G	ENST00000325954.4	+	9	1888	c.1427A>G	c.(1426-1428)aAt>aGt	p.N476S	RNF10_ENST00000413266.2_Missense_Mutation_p.N481S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	476					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAGATGACAATCTTAAAGAG	0.527																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(1426-1428)aAt>aGt		ring finger protein 10							78.0	73.0	74.0					12																	121001322		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001322A>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1427A>G	12.37:g.121001322A>G	ENSP00000322242:p.Asn476Ser					RNF10_ENST00000413266.2_Missense_Mutation_p.N481S	p.N476S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			9	1888	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		476					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1427A>G	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	A	7.324	0.617544	0.14129	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T	0.39406	1.08;1.08	5.98	-4.23	0.03789	.	0.610401	0.18829	N	0.130004	T	0.16685	0.0401	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.34850	-0.9812	10	0.06236	T	0.91	.	10.2854	0.43564	0.3484:0.12:0.5315:0.0	.	481;476	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	S	476;476;481;22	ENSP00000322242:N476S;ENSP00000415682:N481S	ENSP00000322242:N476S	N	+	2	0	RNF10	119485705	0.012000	0.17670	0.926000	0.36857	0.646000	0.38490	-0.256000	0.08757	-0.772000	0.04602	-0.263000	0.10527	AAT		0.527	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			11	41	0	0	0	1	0	11	41				
OTUD5	55593	broad.mit.edu	37	X	48781191	48781191	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:48781191T>C	ENST00000156084.4	-	7	1477	c.1417A>G	c.(1417-1419)Atg>Gtg	p.M473V	OTUD5_ENST00000428668.2_Missense_Mutation_p.M251V|OTUD5_ENST00000396743.3_Missense_Mutation_p.M468V|OTUD5_ENST00000484499.1_5'Flank|OTUD5_ENST00000376488.3_Missense_Mutation_p.M468V	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	473					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GGGGGCTTCATGCCCAATTCA	0.617																																						ENST00000156084.4																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(1417-1419)Atg>Gtg		OTU domain containing 5							62.0	60.0	61.0					X																	48781191		2203	4300	6503	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48781191T>C		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.1417A>G	X.37:g.48781191T>C	ENSP00000156084:p.Met473Val					OTUD5_ENST00000428668.2_Missense_Mutation_p.M251V|OTUD5_ENST00000396743.3_Missense_Mutation_p.M468V|OTUD5_ENST00000376488.3_Missense_Mutation_p.M468V	p.M473V	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN			7	1477	-			473					B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.1417A>G	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	T	3.462	-0.109766	0.06924	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.38	4.38	0.52667	.	0.382773	0.26196	N	0.025762	T	0.17280	0.0415	N	0.04508	-0.205	0.19300	N	0.999971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13575	-1.0504	10	0.17832	T	0.49	-1.6895	5.7061	0.17909	0.0:0.1169:0.0:0.8831	.	251;473;468	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	V	468;444;346;473;468;251	ENSP00000379969:M468V;ENSP00000390767:M346V;ENSP00000156084:M473V;ENSP00000365671:M468V;ENSP00000401629:M251V	ENSP00000156084:M473V	M	-	1	0	OTUD5	48666135	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.469000	0.35343	1.944000	0.56390	0.425000	0.28330	ATG		0.617	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602		5	17	0	0	0	1	0	5	17				
NETO1	81832	broad.mit.edu	37	18	70417314	70417314	+	Silent	SNP	G	G	A	rs144601570	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr18:70417314G>A	ENST00000327305.6	-	9	2181	c.1524C>T	c.(1522-1524)caC>caT	p.H508H	NETO1_ENST00000299430.2_Silent_p.H507H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Silent_p.H508H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	508					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CGGCTTTATCGTGTCTGGACA	0.438																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(1522-1524)caC>caT		neuropilin (NRP) and tolloid (TLL)-like 1		G	,	0,4406		0,0,2203	93.0	81.0	85.0		1524,1524	2.6	1.0	18	dbSNP_134	85	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous,coding-synonymous	NETO1	NM_001201465.1,NM_138966.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	508/534,508/534	70417314	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417314G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1524C>T	18.37:g.70417314G>A						NETO1_ENST00000583169.1_Silent_p.H508H|NETO1_ENST00000299430.2_Silent_p.H507H	p.H508H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	2181	-		Esophageal squamous(42;0.129)	508					Q86W85|Q8ND78|Q8TDF4	Silent	SNP	ENST00000327305.6	37	c.1524C>T	CCDS12000.1																																																																																				0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		7	37	0	0	0	1	0	7	37				
AC015849.16	0	broad.mit.edu	37	17	34233869	34233869	+	lincRNA	SNP	G	G	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr17:34233869G>T	ENST00000587132.1	-	0	4158																											GCAAATCTCAGTGTTGAACTT	0.522																																						ENST00000587132.1																			0																																																			0							g.chr17:34233869G>T																													17.37:g.34233869G>T														0	4158	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.522	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			4	24	1	0	0.00909568	1	0.00909568	4	24				
PTPRD	5789	broad.mit.edu	37	9	8375990	8375990	+	Missense_Mutation	SNP	C	C	T	rs142960593		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr9:8375990C>T	ENST00000381196.4	-	36	5150	c.4607G>A	c.(4606-4608)cGt>cAt	p.R1536H	PTPRD_ENST00000358503.5_Missense_Mutation_p.R1514H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1130H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1129H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1536H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1536H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1126H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1126H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1523H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1536	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1536L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGACTCTACGTAAGAAAGC	0.468										TSP Lung(15;0.13)																												ENST00000381196.4																			1	Substitution - Missense(1)	p.R1536L(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4606-4608)cGt>cAt		protein tyrosine phosphatase, receptor type, D		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	108.0	114.0		3377,3386,4607,3386,3389,3359	5.7	1.0	9	dbSNP_134	114	6,8592	5.0+/-18.6	0,6,4293	yes	missense,missense,missense,missense,missense,missense	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	29,29,29,29,29,29	0,7,6495	TT,TC,CC		0.0698,0.0227,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1126/1503,1129/1506,1536/1913,1129/1506,1130/1507,1120/1497	8375990	7,12997	2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8375990C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4607G>A	9.37:g.8375990C>T	ENSP00000370593:p.Arg1536His	TSP Lung(15;0.13)				PTPRD_ENST00000397611.3_Missense_Mutation_p.R1126H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1129H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1536H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1523H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1126H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1514H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1129H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1536H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1130H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1129H	p.R1536H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	36	5150	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1536			Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4607G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978672	0.92982	2.27E-4	6.98E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.71	5.71	0.89125	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.996;0.999;0.999;0.999;0.994;0.998;0.999;1.0;0.999	P;D;D;D;P;P;P;D;P	0.74023	0.705;0.982;0.982;0.982;0.763;0.884;0.868;0.941;0.902	D	0.91826	0.5471	9	.	.	.	.	19.8352	0.96655	0.0:1.0:0.0:0.0	.	1129;1120;1129;1130;1126;1126;1523;1536;1536	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1536;1536;1523;1514;1130;1129;1126;1126;1007;1536;1129;1129	ENSP00000370593:R1536H;ENSP00000348812:R1536H;ENSP00000353187:R1523H;ENSP00000351293:R1514H;ENSP00000347373:R1130H;ENSP00000380741:R1129H;ENSP00000380735:R1126H;ENSP00000440515:R1126H;ENSP00000438164:R1536H;ENSP00000417093:R1129H;ENSP00000380731:R1129H	.	R	-	2	0	PTPRD	8365990	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.698000	0.92095	0.585000	0.79938	CGT		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	56	0	0	0	1	0	13	56				
ENTPD6	955	broad.mit.edu	37	20	25198164	25198164	+	Silent	SNP	C	C	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:25198164C>T	ENST00000376652.4	+	9	988	c.825C>T	c.(823-825)ggC>ggT	p.G275G	ENTPD6_ENST00000354989.5_Silent_p.G258G|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000433259.2_Silent_p.G275G|ENTPD6_ENST00000360031.2_Silent_p.G274G			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	275					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCCACCCGGCTACCTGACGG	0.552																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(820-822)ggC>ggT		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							98.0	95.0	96.0					20																	25198164		2203	4300	6503	SO:0001819	synonymous_variant	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25198164C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.825C>T	20.37:g.25198164C>T						ENTPD6_ENST00000433259.2_Silent_p.G275G|ENTPD6_ENST00000376652.4_Silent_p.G275G|ENTPD6_ENST00000354989.5_Silent_p.G258G	p.G274G	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			9	1004	+			275					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.822C>T	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	c	0.310	-0.968236	0.02232	.	.	ENSG00000197586	ENST00000433417;ENST00000427553;ENST00000447877	.	.	.	5.71	-0.05	0.13832	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.35762	D	0.820267	.	.	.	.	.	.	T	0.44159	-0.9346	4	.	.	.	-18.1316	4.0851	0.09943	0.1021:0.5412:0.1449:0.2118	.	.	.	.	V	196;133;168	.	.	A	+	2	0	ENTPD6	25146164	0.946000	0.32159	0.180000	0.23079	0.004000	0.04260	0.017000	0.13399	0.373000	0.24621	-1.402000	0.01139	GCT		0.552	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			14	83	0	0	0	1	0	14	83				
CD84	8832	broad.mit.edu	37	1	160523156	160523156	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160523156G>A	ENST00000311224.4	-	4	838	c.772C>T	c.(772-774)Cca>Tca	p.P258S	CD84_ENST00000368048.3_Intron|CD84_ENST00000534968.1_Intron|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000368047.3_5'Flank|CD84_ENST00000368054.3_Intron	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	258					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCTTCTGGGAAAATCCTA	0.458																																						ENST00000311224.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24						c.(772-774)Cca>Tca		CD84 molecule							69.0	70.0	70.0					1																	160523156		2203	4300	6503	SO:0001583	missense	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523156G>A	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.772C>T	1.37:g.160523156G>A	ENSP00000312367:p.Pro258Ser					CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Intron|CD84_ENST00000368048.3_Intron|RP11-528G1.2_ENST00000446952.1_RNA	p.P258S	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	838	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		258					B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	c.772C>T	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	8.372	0.835603	0.16820	.	.	ENSG00000066294	ENST00000311224;ENST00000360056	T;T	0.62364	0.4;0.03	4.93	-0.841	0.10752	.	10.138400	0.00166	N	0.000000	T	0.13713	0.0332	N	0.11201	0.11	0.18873	N	0.999982	B;B	0.19331	0.035;0.02	B;B	0.16289	0.015;0.007	T	0.06006	-1.0851	10	0.07644	T	0.81	1.6819	3.8887	0.09110	0.4095:0.0:0.4302:0.1603	.	258;258	Q9UIB8-4;Q9UIB8	.;SLAF5_HUMAN	S	258	ENSP00000312367:P258S;ENSP00000353163:P258S	ENSP00000312367:P258S	P	-	1	0	CD84	158789780	0.003000	0.15002	0.064000	0.19789	0.819000	0.46315	0.164000	0.16542	-0.226000	0.09899	-0.142000	0.14014	CCA		0.458	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		7	37	0	0	0	1	0	7	37				
BSG	682	broad.mit.edu	37	19	577919	577919	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr19:577919G>C	ENST00000333511.3	+	2	283	c.213G>C	c.(211-213)tgG>tgC	p.W71C	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	71					blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCTCTGGGACGGCGCCC	0.687																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(211-213)tgG>tgC		basigin							29.0	27.0	28.0					19																	577919		2197	4295	6492	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:577919G>C	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.213G>C	19.37:g.577919G>C	ENSP00000333769:p.Trp71Cys					BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR	p.W71C	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	283	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	71					A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.213G>C	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078425	0.55753	.	.	ENSG00000172270	ENST00000333511	T	0.02579	4.24	3.54	3.54	0.40534	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.156815	0.44688	U	0.000433	T	0.13713	0.0332	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.02553	-1.1142	10	0.39692	T	0.17	-12.971	14.0078	0.64475	0.0:0.0:1.0:0.0	.	71	P35613	BASI_HUMAN	C	71	ENSP00000333769:W71C	ENSP00000333769:W71C	W	+	3	0	BSG	528919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	1.652000	0.50683	0.462000	0.41574	TGG		0.687	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		4	13	0	0	0	1	0	4	13				
APAF1	317	broad.mit.edu	37	12	99119209	99119209	+	Missense_Mutation	SNP	T	T	C	rs138188210	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr12:99119209T>C	ENST00000551964.1	+	25	4083	c.3347T>C	c.(3346-3348)cTc>cCc	p.L1116P	APAF1_ENST00000550527.1_Missense_Mutation_p.L1105P|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.L1073P|APAF1_ENST00000359972.2_Missense_Mutation_p.L1062P|APAF1_ENST00000357310.1_Missense_Mutation_p.L1073P|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1116					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AGTTTTGATCTCCTTTTGCCA	0.458													T|||	7	0.00139776	0.0008	0.0043	5008	,	,		22734	0.0		0.002	False		,,,				2504	0.001					ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(3217-3219)cTc>cCc		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)	T	PRO/LEU,PRO/LEU,PRO/LEU,PRO/LEU,	1,4405	2.1+/-5.4	0,1,2202	118.0	103.0	108.0		3185,3314,3347,3218,	-4.6	0.0	12	dbSNP_134	108	14,8586	9.8+/-36.6	0,14,4286	yes	missense,missense,missense,missense,intron	APAF1	NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1	98,98,98,98,	0,15,6488	CC,CT,TT		0.1628,0.0227,0.1153	benign,benign,benign,benign,	1062/1195,1105/1238,1116/1249,1073/1206,	99119209	15,12991	2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99119209T>C	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3347T>C	12.37:g.99119209T>C	ENSP00000448165:p.Leu1116Pro					APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Missense_Mutation_p.L1062P|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.L1073P|APAF1_ENST00000551964.1_Missense_Mutation_p.L1116P|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.L1105P|APAF1_ENST00000549007.1_Intron	p.L1073P	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			24	3795	+			1116					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.3218T>C	CCDS9069.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	T	9.547	1.114909	0.20795	2.27E-4	0.001628	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000550527;ENST00000547045	T;T;T;T;T	0.81078	-1.45;-1.45;2.27;-1.45;2.27	6.06	-4.59	0.03400	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.687775	0.15336	N	0.267778	T	0.63931	0.2553	N	0.11154	0.105	0.20703	N	0.999869	P;P;B;B	0.44006	0.824;0.594;0.043;0.38	P;B;B;B	0.50490	0.642;0.242;0.008;0.075	T	0.59521	-0.7439	10	0.45353	T	0.12	-0.0878	3.8289	0.08865	0.5149:0.067:0.2513:0.1668	.	1073;1062;1116;1105	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	P	1116;1062;1073;1105;1073	ENSP00000448165:L1116P;ENSP00000353059:L1062P;ENSP00000349862:L1073P;ENSP00000448449:L1105P;ENSP00000449791:L1073P	ENSP00000349862:L1073P	L	+	2	0	APAF1	97643340	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.213000	0.09305	-0.386000	0.07821	-1.168000	0.01747	CTC		0.458	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		4	73	0	0	0	1	0	4	73				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		3	37	0	0	0	1	0	3	37				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000543101.1_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	16	0	0	0	1	0	3	16				
ACOXL	55289	broad.mit.edu	37	2	111556600	111556600	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr2:111556600G>C	ENST00000389811.4	+	7	694	c.470G>C	c.(469-471)tGt>tCt	p.C157S	ACOXL_ENST00000340561.4_Missense_Mutation_p.C157S|ACOXL_ENST00000439055.1_Missense_Mutation_p.C157S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	157					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GGGCCCCACTGTTTCATCGTT	0.463																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(469-471)tGt>tCt		acyl-CoA oxidase-like							142.0	123.0	129.0					2																	111556600		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111556600G>C		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.470G>C	2.37:g.111556600G>C	ENSP00000374461:p.Cys157Ser					ACOXL_ENST00000439055.1_Missense_Mutation_p.C157S|ACOXL_ENST00000340561.4_Missense_Mutation_p.C157S	p.C157S			Q9NUZ1	ACOXL_HUMAN			7	694	+			157					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.470G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376765|3.376765	0.61735|0.61735	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561|ENST00000422487	D;D;D|.	0.98849|.	-5.18;-5.18;-5.18|.	5.35|5.35	5.35|5.35	0.76521|0.76521	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51618|0.51618	0.1685|0.1685	L|L	0.33093|0.33093	0.98|0.98	0.49213|0.49213	D|D	0.999761|0.999761	P;P;B|.	0.51933|.	0.915;0.949;0.431|.	B;P;B|.	0.45610|.	0.292;0.487;0.269|.	T|T	0.39761|0.39761	-0.9598|-0.9598	10|6	0.52906|0.06625	T|T	0.07|0.88	-11.6428|-11.6428	16.9167|16.9167	0.86153|0.86153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	157;157;157|.	E9PB20;Q9NUZ1-2;Q9NUZ1|.	.;.;ACOXL_HUMAN|.	S|L	157|9	ENSP00000374461:C157S;ENSP00000407761:C157S;ENSP00000343717:C157S|.	ENSP00000343717:C157S|ENSP00000404255:V9L	C|V	+|+	2|1	0|0	ACOXL|ACOXL	111273071|111273071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.987000|5.987000	0.70571|0.70571	2.665000|2.665000	0.90641|0.90641	0.650000|0.650000	0.86243|0.86243	TGT|GTT		0.463	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		13	107	0	0	0	1	0	13	107				
STAG3L4	64940	broad.mit.edu	37	7	66774113	66774113	+	RNA	SNP	T	T	C			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:66774113T>C	ENST00000416602.2	+	0	554					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TCTGTCACACTAGCACCCTGG	0.498																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7															100.0	101.0	101.0					7																	66774113		2203	4300	6503			0							g.chr7:66774113T>C			7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774113T>C								NR_040586.1		Q8TBR4	STG34_HUMAN			0	554	+		Lung NSC(55;0.0839)|all_lung(88;0.181)						Q9H8W0	RNA	SNP	ENST00000416602.2	37																																																																																						0.498	STAG3L4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346611.1	NM_022906		13	69	0	0	0	1	0	13	69				
BCLAF1	9774	broad.mit.edu	37	6	136599357	136599357	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr6:136599357T>A	ENST00000531224.1	-	4	914	c.662A>T	c.(661-663)aAt>aTt	p.N221I	BCLAF1_ENST00000353331.4_Missense_Mutation_p.N219I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.N219I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000527759.1_Missense_Mutation_p.N219I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	221					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGGACTATTATCATAAGC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(661-663)aAt>aTt		BCL2-associated transcription factor 1							259.0	245.0	250.0					6																	136599357		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599357T>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.662A>T	6.37:g.136599357T>A	ENSP00000435210:p.Asn221Ile					BCLAF1_ENST00000527759.1_Missense_Mutation_p.N219I|BCLAF1_ENST00000527536.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000530767.1_Missense_Mutation_p.N221I|BCLAF1_ENST00000392348.2_Missense_Mutation_p.N219I|BCLAF1_ENST00000353331.4_Missense_Mutation_p.N219I	p.N221I	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	914	-	Colorectal(23;0.24)		221					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.662A>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456451	0.63401	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.24044	0.0582	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.78314	0.991;0.991;0.991;0.991	T	0.01697	-1.1293	10	0.56958	D	0.05	-21.6556	16.4461	0.83932	0.0:0.0:0.0:1.0	.	219;219;221;221	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	I	221;219;221;221;219;219;221	ENSP00000435210:N221I;ENSP00000229446:N219I;ENSP00000435441:N221I;ENSP00000436501:N221I;ENSP00000434826:N219I;ENSP00000376159:N219I;ENSP00000431734:N221I	ENSP00000229446:N219I	N	-	2	0	BCLAF1	136641050	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.767000	0.68850	2.285000	0.76669	0.528000	0.53228	AAT		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	175	0	0	0	1	0	10	175				
IGHV4-4	28401	broad.mit.edu	37	14	106478464	106478464	+	RNA	SNP	T	T	C	rs80132192	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr14:106478464T>C	ENST00000390596.2	-	0	110									immunoglobulin heavy variable 4-4																		ACCTCCCATATCCCCATGTCT	0.587													.|||	2963	0.591653	0.3631	0.6052	5008	,	,		9540	0.7192		0.5984	False		,,,				2504	0.7526					ENST00000390596.2																			0																				59.0	57.0	57.0					14																	106478464		1886	4095	5981			0							g.chr14:106478464T>C	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478464T>C														0	110	-									RNA	SNP	ENST00000390596.2	37																																																																																						0.587	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		4	55	0	0	0	1	0	4	55				
ZFYVE28	57732	broad.mit.edu	37	4	2306946	2306946	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr4:2306946C>G	ENST00000290974.2	-	8	1460	c.1121G>C	c.(1120-1122)gGa>gCa	p.G374A	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G344A|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G304A|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	374					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCCCTCCGCTCCTGGCCTGTG	0.667																																						ENST00000290974.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(1120-1122)gGa>gCa		zinc finger, FYVE domain containing 28							36.0	37.0	37.0					4																	2306946		2203	4297	6500	SO:0001583	missense	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306946C>G	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1121G>C	4.37:g.2306946C>G	ENSP00000290974:p.Gly374Ala					ZFYVE28_ENST00000515312.1_Missense_Mutation_p.G304A|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.G344A|RP11-478C1.7_ENST00000510632.1_RNA	p.G374A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN			8	1460	-			374					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	c.1121G>C	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697428	0.30142	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.58652	0.33;0.32;0.33	4.82	3.95	0.45737	.	0.222920	0.47093	N	0.000250	T	0.52008	0.1708	M	0.64997	1.995	0.25658	N	0.986038	B;P	0.48294	0.264;0.908	B;B	0.41860	0.066;0.368	T	0.52859	-0.8519	10	0.56958	D	0.05	.	7.8758	0.29592	0.0:0.7503:0.1644:0.0853	.	344;374	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	A	374;344;304	ENSP00000290974:G374A;ENSP00000425706:G344A;ENSP00000426299:G304A	ENSP00000290974:G374A	G	-	2	0	ZFYVE28	2276744	0.000000	0.05858	0.024000	0.17045	0.020000	0.10135	0.270000	0.18607	1.230000	0.43646	0.537000	0.68136	GGA		0.667	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		9	40	0	0	0	1	0	9	40				
ATP1A2	477	broad.mit.edu	37	1	160109744	160109744	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr1:160109744C>T	ENST00000361216.3	+	22	3093	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R991*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1002					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1002R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGATGAGGTCCGAAAGCTCAT	0.582																																						ENST00000361216.3																			1	Substitution - coding silent(1)	p.R1002R(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(3004-3006)Cga>Tga		ATPase, Na+/K+ transporting, alpha 2 polypeptide							141.0	126.0	131.0					1																	160109744		2203	4300	6503	SO:0001587	stop_gained	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109744C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3004C>T	1.37:g.160109744C>T	ENSP00000354490:p.Arg1002*					ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R991*	p.R1002*	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3093	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1002					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Nonsense_Mutation	SNP	ENST00000361216.3	37	c.3004C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	42	9.427856	0.99167	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.942	0.41587	0.2027:0.7973:0.0:0.0	.	.	.	.	X	1002;991;705	.	ENSP00000354490:R1002X	R	+	1	2	ATP1A2	158376368	0.965000	0.33210	0.995000	0.50966	0.982000	0.71751	0.734000	0.26101	2.420000	0.82092	0.655000	0.94253	CGA		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		10	69	0	0	0	1	0	10	69				
SYNE1	23345	broad.mit.edu	37	6	152665261	152665261	+	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr6:152665261C>A	ENST00000367255.5	-	74	12781	c.12180G>T	c.(12178-12180)gaG>gaT	p.E4060D	SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4060			E -> D (in dbSNP:rs4645434).		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4060D(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGACTTGGCTCTAAATCCG	0.498										HNSCC(10;0.0054)			C|||	2732	0.545527	0.4138	0.6182	5008	,	,		18310	0.6488		0.6024	False		,,,				2504	0.5072					ENST00000367255.5																			3	Substitution - Missense(3)	p.E4060D(3)	skin(2)|central_nervous_system(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12178-12180)gaG>gaT		spectrin repeat containing, nuclear envelope 1		C	ASP/GLU,ASP/GLU	2065,2341	569.8+/-382.7	487,1091,625	106.0	102.0	103.0		11967,12180	-1.2	0.0	6	dbSNP_111	103	5313,3287	647.1+/-400.3	1664,1985,651	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	45,45	2151,3076,1276	AA,AC,CC		38.2209,46.8679,43.2723	benign,benign	3989/8750,4060/8798	152665261	7378,5628	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152665261C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12180G>T	6.37:g.152665261C>A	ENSP00000356224:p.Glu4060Asp	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D	p.E4060D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12781	-		Ovarian(120;0.0955)	4060		E -> D (in dbSNP:rs4645434).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12180G>T	CCDS5236.2	1271	0.581959706959707	217	0.4410569105691057	222	0.6132596685082873	373	0.6520979020979021	459	0.6055408970976254	C	6.405	0.442830	0.12164	0.468679	0.617791	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.76	-1.25	0.09405	.	0.176957	0.39341	N	0.001392	T	0.05914	0.0154	N	0.14661	0.345	0.22911	P	0.99857779	B;B;B;B	0.28208	0.203;0.203;0.203;0.082	B;B;B;B	0.24541	0.031;0.031;0.031;0.054	T	0.36187	-0.9758	9	0.11182	T	0.66	.	10.9634	0.47397	0.0:0.4861:0.0:0.5139	rs4645434;rs52832929;rs56482475;rs57199459;rs4645434	4060;4060;4060;3989	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4060;3989;4060;3989;3925	ENSP00000356224:E4060D;ENSP00000396024:E3989D;ENSP00000265368:E4060D;ENSP00000390975:E3989D;ENSP00000341887:E3925D	ENSP00000265368:E4060D	E	-	3	2	SYNE1	152706954	0.996000	0.38824	0.016000	0.15963	0.190000	0.23558	0.426000	0.21363	-0.234000	0.09782	-0.749000	0.03505	GAG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	69	1	0	0.00909568	1	0.00909568	4	69				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	63	0	0	0	1	0	16	63				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	38	0	0	0	1	0	5	38				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	111	0	0	0	1	0	6	111				
PLCB1	23236	broad.mit.edu	37	20	8639291	8639291	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr20:8639291C>A	ENST00000338037.6	+	9	829	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q268K|PLCB1_ENST00000378641.3_Missense_Mutation_p.Q268K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	268					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCTCTAAAACAAGAGCAAGT	0.398																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(802-804)Caa>Aaa		phospholipase C, beta 1 (phosphoinositide-specific)							126.0	114.0	118.0					20																	8639291		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8639291C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.802C>A	20.37:g.8639291C>A	ENSP00000338185:p.Gln268Lys					PLCB1_ENST00000378637.2_Missense_Mutation_p.Q268K|PLCB1_ENST00000338037.6_Missense_Mutation_p.Q268K	p.Q268K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			9	1277	+			268					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.802C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755109	0.49362	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.15952	2.38;2.38;2.38	5.95	5.95	0.96441	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.160135	0.56097	D	0.000029	T	0.11707	0.0285	N	0.12746	0.255	0.36542	D	0.871375	B;B	0.29988	0.005;0.264	B;B	0.26416	0.022;0.069	T	0.24333	-1.0163	10	0.17369	T	0.5	.	20.3921	0.98947	0.0:1.0:0.0:0.0	.	268;268	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	268;268;268;188;188	ENSP00000367908:Q268K;ENSP00000338185:Q268K;ENSP00000367904:Q268K	ENSP00000338185:Q268K	Q	+	1	0	PLCB1	8587291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.453000	0.44970	2.822000	0.97130	0.650000	0.86243	CAA		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			17	92	1	0	3.52763e-06	1	3.71831e-06	17	92				
TMSB15A	11013	broad.mit.edu	37	X	101770063	101770063	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chrX:101770063A>T	ENST00000289373.4	-	2	164	c.29T>A	c.(28-30)gTg>gAg	p.V10E		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	10					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						AAACTTCTCCACTTCCGACAA	0.383																																						ENST00000289373.4																			0				large_intestine(1)|lung(1)	2						c.(28-30)gTg>gAg		thymosin beta 15a							114.0	107.0	110.0					X																	101770063		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770063A>T	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"""thymosin-like 8"""	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.29T>A	X.37:g.101770063A>T	ENSP00000289373:p.Val10Glu						p.V10E	NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN			2	164	-			10					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.29T>A	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115521	0.37339	.	.	ENSG00000158164	ENST00000289373	T	0.60920	0.15	3.65	3.65	0.41850	.	0.000000	0.45606	D	0.000354	T	0.71525	0.3350	.	.	.	0.31450	N	0.670858	D	0.67145	0.996	D	0.69824	0.966	T	0.75144	-0.3421	9	0.87932	D	0	-9.6759	9.4926	0.38969	1.0:0.0:0.0:0.0	.	10	P0CG34	TB15A_HUMAN	E	10	ENSP00000289373:V10E	ENSP00000289373:V10E	V	-	2	0	TMSB15A	101656719	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.923000	0.63412	1.346000	0.45694	0.430000	0.28490	GTG		0.383	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992		15	34	0	0	0	1	0	15	34				
INTS4L2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G	rs374730441|rs202004878|rs183571014|rs553737227	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCACCCCCCCCCCCGTTAAAAT	0.47																																						ENST00000430126.2																			0																																																			0							g.chr7:65150824_65150825insG	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150824_65150825insG														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.470	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		2	4						2	4	---	---	---	---
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542																																						ENST00000437494.1																			0																																																			0							g.chr7:75804673delA																													7.37:g.75804673delA														0	57	+									RNA	DEL	ENST00000437494.1	37																																																																																						0.542	AC005077.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344669.1			2	4						2	4	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-EM-A4FO-01A-11D-A257-08	TCGA-EM-A4FO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ebe8c430-5f66-4ddc-bbfb-30a601278c1f	059e7e1a-05de-45bb-879b-d3a813025b91	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		5	8						5	8	---	---	---	---
