#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
BIRC6	57448	broad.mit.edu	37	2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13468-13470)gCa>gTa		baculoviral IAP repeat containing 6							74.0	73.0	73.0					2																	32819095		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32819095C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13469C>T	2.37:g.32819095C>T	ENSP00000393596:p.Ala4490Val						p.A4490V	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			67	13603	+	Acute lymphoblastic leukemia(172;0.155)		4490					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13469C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330902	0.60853	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.51	5.51	0.81932	.	0.172283	0.51477	D	0.000085	T	0.68760	0.3036	L	0.40543	1.245	0.51482	D	0.999922	B	0.16603	0.018	B	0.14023	0.01	T	0.62153	-0.6914	10	0.30078	T	0.28	.	19.4294	0.94758	0.0:1.0:0.0:0.0	.	4490	Q9NR09	BIRC6_HUMAN	V	4490	ENSP00000393596:A4490V	ENSP00000393596:A4490V	A	+	2	0	BIRC6	32672599	1.000000	0.71417	0.833000	0.33012	0.991000	0.79684	4.753000	0.62183	2.579000	0.87056	0.650000	0.86243	GCA		0.388	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	39	0	0	0	1	0	3	39				
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs555608997	byFrequency	TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458													N|||	1273	0.254193	0.2209	0.2378	5008	,	,		7147	0.4355		0.2455	False		,,,				2504	0.1329					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1366-1368)gtA>gtG		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828112A>G	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1368A>G	9.37:g.43828112A>G							p.V456V	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1761	+			456			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1368A>G	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	N	5.461	0.270213	0.10349	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.6	-5.2	0.02823	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.51767	P	6.499999999998174E-5	.	.	.	.	.	.	T	0.22034	-1.0228	3	.	.	.	.	0.8201	0.01109	0.4314:0.1307:0.1593:0.2786	.	.	.	.	C	505	.	.	Y	+	2	0	CNTNAP3B	43768108	0.072000	0.21174	0.010000	0.14722	0.245000	0.25701	-0.184000	0.09698	-1.395000	0.02074	-1.123000	0.02005	TAT		0.458	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	59	0	0	0	1	0	3	59				
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1134	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3400-3402)ccC>ccT		nascent polypeptide-associated complex alpha subunit							61.0	59.0	60.0					12																	57111912		1261	2772	4033	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111912G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3402C>T	12.37:g.57111912G>A						NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	p.P1134P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3683	-			0						Silent	SNP	ENST00000454682.1	37	c.3402C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		3	33	0	0	0	1	0	3	33				
SPHKAP	80309	broad.mit.edu	37	2	228883669	228883669	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:228883669C>T	ENST00000392056.3	-	7	1947	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S634N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	634						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCAATGCTGCTGTAGGTATT	0.478																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1900-1902)aGc>aAc		SPHK1 interactor, AKAP domain containing							71.0	69.0	70.0					2																	228883669		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883669C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1901G>A	2.37:g.228883669C>T	ENSP00000375909:p.Ser634Asn					SPHKAP_ENST00000344657.5_Missense_Mutation_p.S634N	p.S634N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	1947	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	634					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1901G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	5.347	0.249330	0.10130	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.51574	0.7;0.7	5.54	2.75	0.32379	.	0.468148	0.26377	N	0.024724	T	0.35189	0.0923	L	0.58101	1.795	0.28871	N	0.894965	B;P	0.40834	0.002;0.73	B;B	0.32980	0.002;0.156	T	0.29427	-1.0012	10	0.38643	T	0.18	.	6.1718	0.20421	0.0:0.6348:0.1498:0.2155	.	634;634	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	N	634	ENSP00000375909:S634N;ENSP00000339886:S634N	ENSP00000339886:S634N	S	-	2	0	SPHKAP	228591913	0.971000	0.33674	0.028000	0.17463	0.007000	0.05969	0.785000	0.26830	0.814000	0.34374	-0.872000	0.02987	AGC		0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		44	43	0	0	0	1	0	44	43				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	111	0	0	0	1	0	6	111				
FAM65C	140876	broad.mit.edu	37	20	49247340	49247340	+	Silent	SNP	G	G	A	rs374881854		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr20:49247340G>A	ENST00000327979.2	-	2	456	c.45C>T	c.(43-45)gcC>gcT	p.A15A	FAM65C_ENST00000535356.1_Silent_p.A19A|FAM65C_ENST00000045083.2_Silent_p.A15A			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	15										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGACCCCCACGGCCCCTGTGT	0.657																																						ENST00000327979.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(43-45)gcC>gcT		family with sequence similarity 65, member C		G		0,4404		0,0,2202	28.0	23.0	25.0		45	-4.4	0.5	20		25	1,8599		0,1,4299	no	coding-synonymous	FAM65C	NM_080829.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		15/947	49247340	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	140876							g.chr20:49247340G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.45C>T	20.37:g.49247340G>A						FAM65C_ENST00000535356.1_Silent_p.A19A|FAM65C_ENST00000045083.2_Silent_p.A15A	p.A15A			Q96MK2	FA65C_HUMAN			2	456	-			15					Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	c.45C>T	CCDS13431.2																																																																																				0.657	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			11	14	0	0	0	1	0	11	14				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			645528							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	48	0	0	0	1	0	4	48				
FGF7	2252	broad.mit.edu	37	15	49776572	49776572	+	Silent	SNP	A	A	C			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr15:49776572A>C	ENST00000267843.4	+	4	1067	c.456A>C	c.(454-456)gcA>gcC	p.A152A	FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	152					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.A152A(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		ACACATATGCATCAGCTAAAT	0.338																																						ENST00000267843.4																			1	Substitution - coding silent(1)	p.A152A(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(454-456)gcA>gcC		fibroblast growth factor 7	Palifermin(DB00039)						55.0	53.0	54.0					15																	49776572		2037	3875	5912	SO:0001819	synonymous_variant	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776572A>C	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.456A>C	15.37:g.49776572A>C						FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	p.A152A	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1067	+		all_lung(180;0.00391)	152					H0YNY5|Q6FGV5|Q96FG5	Silent	SNP	ENST00000267843.4	37	c.456A>C	CCDS10131.1																																																																																				0.338	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		3	97	0	0	0	1	0	3	97				
HDAC4	9759	broad.mit.edu	37	2	239988460	239988460	+	Silent	SNP	G	G	A	rs199744642		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:239988460G>A	ENST00000345617.3	-	24	3737	c.2946C>T	c.(2944-2946)tgC>tgT	p.C982C	AC017028.3_ENST00000584260.1_RNA|AC017028.5_ENST00000582834.1_RNA|AC017028.2_ENST00000578555.1_RNA|AC017028.4_ENST00000577359.1_RNA|AC017028.6_ENST00000577291.1_RNA|AC017028.9_ENST00000581111.1_RNA|MIR4440_ENST00000583986.1_RNA|AC017028.10_ENST00000579161.1_RNA|HDAC4_ENST00000543185.1_Silent_p.C566C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	982	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCGAGGCGTCGCAAATGGCGG	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17120	0.0		0.0	False		,,,				2504	0.0					ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2944-2946)tgC>tgT		histone deacetylase 4							80.0	77.0	78.0					2																	239988460		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239988460G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2946C>T	2.37:g.239988460G>A						HDAC4_ENST00000543185.1_Silent_p.C566C	p.C982C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	24	3737	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	982			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2946C>T	CCDS2529.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	10.48	1.362474	0.24684	.	.	ENSG00000068024	ENST00000430200	.	.	.	4.21	-2.63	0.06133	.	.	.	.	.	T	0.55721	0.1938	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53892	-0.8374	4	.	.	.	.	11.2242	0.48873	0.576:0.0:0.424:0.0	.	.	.	.	V	73	.	.	A	-	2	0	HDAC4	239653397	0.152000	0.22762	0.990000	0.47175	0.960000	0.62799	-0.456000	0.06754	-0.401000	0.07644	-0.469000	0.05056	GCG		0.637	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		4	139	0	0	0	1	0	4	139				
ZNF365	22891	broad.mit.edu	37	10	64429987	64429987	+	Silent	SNP	T	T	C			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr10:64429987T>C	ENST00000395251.1	+	7	911	c.577T>C	c.(577-579)Ttg>Ctg	p.L193L	ZNF365_ENST00000410046.3_Silent_p.L439L|ZNF365_ENST00000395249.1_Silent_p.L45L	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	193										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AATCATCGATTTGTTGACTGA	0.428																																						ENST00000410046.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1315-1317)Ttg>Ctg		zinc finger protein 365							267.0	264.0	265.0					10																	64429987		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64429987T>C	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.577T>C	10.37:g.64429987T>C						ZNF365_ENST00000395251.1_Silent_p.L193L|ZNF365_ENST00000395249.1_Silent_p.L45L	p.L439L	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN			8	1595	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		193						Silent	SNP	ENST00000395251.1	37	c.1315T>C	CCDS7265.1																																																																																				0.428	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951		11	429	0	0	0	1	0	11	429				
FBXW2	26190	broad.mit.edu	37	9	123550425	123550425	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr9:123550425C>T	ENST00000608872.1	-	3	299	c.112G>A	c.(112-114)Gca>Aca	p.A38T	FBXW2_ENST00000340778.5_Missense_Mutation_p.A38T	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	38					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGCTGGACTGCCCCACTCAGA	0.443																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(112-114)Gca>Aca		F-box and WD repeat domain containing 2							60.0	59.0	59.0					9																	123550425		1866	4114	5980	SO:0001583	missense	26190				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123550425C>T	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.112G>A	9.37:g.123550425C>T	ENSP00000476369:p.Ala38Thr					FBXW2_ENST00000340778.5_Missense_Mutation_p.A38T	p.A38T	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			3	299	-			38					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.112G>A	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086282	0.76642	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.80214	0.29;-1.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	N	0.24115	0.695	0.80722	D	1	D;D;P	0.67145	0.996;0.97;0.948	D;P;P	0.79784	0.993;0.665;0.487	T	0.76386	-0.2978	10	0.12430	T	0.62	-5.565	17.887	0.88858	0.0:1.0:0.0:0.0	.	38;38;38	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	T	38	ENSP00000363036:A38T;ENSP00000341161:A38T	ENSP00000341161:A38T	A	-	1	0	FBXW2	122590246	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.820000	0.69250	2.824000	0.97209	0.655000	0.94253	GCA		0.443	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			3	65	0	0	0	1	0	3	65				
KRTAP10-12	386685	broad.mit.edu	37	21	46117404	46117404	+	Silent	SNP	C	C	T			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr21:46117404C>T	ENST00000400365.3	+	1	318	c.288C>T	c.(286-288)acC>acT	p.T96T	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	96	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTTGCTGCACCTCCTCCCCCT	0.657																																						ENST00000400365.3																			0				large_intestine(1)|lung(8)	9						c.(286-288)acC>acT		keratin associated protein 10-12							72.0	77.0	76.0					21																	46117404		2203	4296	6499	SO:0001819	synonymous_variant	386685					keratin filament		g.chr21:46117404C>T	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.288C>T	21.37:g.46117404C>T						TSPEAR_ENST00000323084.4_Intron	p.T96T	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN			1	318	+			96			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Silent	SNP	ENST00000400365.3	37	c.288C>T	CCDS42967.1																																																																																				0.657	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		37	154	0	0	0	1	0	37	154				
MUC17	140453	broad.mit.edu	37	7	100677614	100677614	+	Missense_Mutation	SNP	A	A	C			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr7:100677614A>C	ENST00000306151.4	+	3	2981	c.2917A>C	c.(2917-2919)Ata>Cta	p.I973L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	973	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGGTACCAGCATACCAACCTC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2917-2919)Ata>Cta		mucin 17, cell surface associated							349.0	325.0	333.0					7																	100677614		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677614A>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2917A>C	7.37:g.100677614A>C	ENSP00000302716:p.Ile973Leu						p.I973L	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	2981	+	Lung NSC(181;0.136)|all_lung(186;0.182)		973			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2917A>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.904547	0.00512	.	.	ENSG00000169876	ENST00000306151	T	0.02236	4.38	1.08	-0.208	0.13185	.	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48581	-0.9023	9	0.07813	T	0.8	.	4.3811	0.11295	0.771:0.0:0.229:0.0	.	973	Q685J3	MUC17_HUMAN	L	973	ENSP00000302716:I973L	ENSP00000302716:I973L	I	+	1	0	MUC17	100464334	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.379000	0.02554	-0.044000	0.13491	0.113000	0.15668	ATA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		138	735	0	0	0	1	0	138	735				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	51	0	0	0	1	0	3	51				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	50	0	0	0	1	0	3	50				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	393						8	393	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	lincRNA	DEL	T	T	-	rs71401155	byFrequency	TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													|||unknown(HR)	2984	0.595847	0.4977	0.6196	5008	,	,		15474	0.5893		0.6431	False		,,,				2504	0.6697					ENST00000441803.1																			0																																																			0							g.chr2:217474994delT																													2.37:g.217474994delT														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			4	6						4	6	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	4883							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	126						8	126	---	---	---	---
CCDC69	26112	broad.mit.edu	37	5	150563044	150563044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr5:150563044delG	ENST00000355417.2	-	9	1019	c.845delC	c.(844-846)cctfs	p.P282fs	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	282										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGGGCCAGAGGGAAGGCAGG	0.642																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(844-846)ctfs		coiled-coil domain containing 69							52.0	49.0	50.0					5																	150563044		2203	4300	6503	SO:0001589	frameshift_variant	26112							g.chr5:150563044delG		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.845delC	5.37:g.150563044delG	ENSP00000347586:p.Pro282fs					CCDC69_ENST00000521308.1_5'UTR	p.P282fs	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1019	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	282					A8K9X6	Frame_Shift_Del	DEL	ENST00000355417.2	37	c.845delC	CCDS4312.1																																																																																				0.642	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		2	4						2	4	---	---	---	---
LINC00937	389634	broad.mit.edu	37	12	8519552	8519554	+	lincRNA	DEL	CCA	CCA	-	rs370335955|rs36094839|rs571647407		TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr12:8519552_8519554delCCA	ENST00000544461.1	-	0	1081				RP11-113C12.4_ENST00000537764.1_RNA|AC092865.1_ENST00000408177.1_RNA					long intergenic non-protein coding RNA 937																		TACCAGCTTCccaccaccaccac	0.473														457	0.091254	0.1309	0.085	5008	,	,		17620	0.002		0.172	False		,,,				2504	0.0511					ENST00000544461.1																			0																																																			389634							g.chr12:8519552_8519554delCCA	BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8519561_8519563delCCA						RP11-113C12.4_ENST00000537764.1_RNA								0	1081	-									RNA	DEL	ENST00000544461.1	37																																																																																						0.473	LINC00937-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400511.1			10	72						10	72	---	---	---	---
OR7C1	26664	broad.mit.edu	37	19	14910637	14910638	+	Frame_Shift_Ins	INS	-	-	A	rs534928853	byFrequency	TCGA-RW-A68A-01A-11D-A35D-08	TCGA-RW-A68A-11A-21D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c75b0c-7a65-406a-ae3b-f43a03521386	7299d9a0-41b7-4e49-8b53-351166dcaad2	g.chr19:14910637_14910638insA	ENST00000248073.2	-	1	385_386	c.311_312insT	c.(310-312)ttcfs	p.F104fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	104					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CAAATGAAGTGAAAAAAAAAAT	0.446																																						ENST00000248073.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						c.(310-312)tacfs		olfactory receptor, family 7, subfamily C, member 1																																				SO:0001589	frameshift_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910637_14910638insA	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.312dupT	19.37:g.14910647_14910647dupA	ENSP00000248073:p.Phe104fs					OR7A5_ENST00000601611.1_Intron	p.Y104fs	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN			1	385_386	-			104					Q15621|Q6IFP2|Q96R94	Frame_Shift_Ins	INS	ENST00000248073.2	37	c.311_312insT	CCDS12317.1																																																																																				0.446	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			7	73						7	73	---	---	---	---
